Alicia Valenzuela Anna Anagnostopolous Christopher Mungall Eisuke Dohi Georgios V. Gkoutos Hiroshi Masuya Howard Dene Melissa Berry Michelle Knowlton Nicole Vasilevsky Paul Schofield Tatsuya Kushida Terue Takatsuki Toyofumi Fujiwara Carroll W. Goldsmith Cynthia L. Smith Janan T. Eppig Susan Bello The Mammalian Phenotype Ontology is being developed by Cynthia L. Smith, Susan M. Bello, Anna, Anagnostopoulos, Carroll W. Goldsmith and Janan T. Eppig, as part of the Mouse Genome Database (MGD) Project, Mouse Genome Informatics (MGI), The Jackson Laboratory, Bar Harbor, ME. This file contains pre-coordinated phenotype terms, definitions and synonyms that can be used to describe mammalian phenotypes. The ontology is represented as a directed acyclic graph (DAG). It organizes phenotype terms into major biological system headers such as nervous system and respiratory system. This ontology is currently under development. Weekly updates are available at the Mouse Genome Informatics (MGI) ftp site (ftp://ftp.informatics.jax.org/pub/reports/index.html#pheno) as well as the OBO Foundry site (http://obofoundry.org/). Japanese labels of MP were created by the MP Japanese Translation Project (https://github.com/dbcls/MP_Japanse). Questions, comments and suggestions are welcome, and should be directed to pheno@jax.org, Susan.Bello@jax.org or to GitHub tracker (https://github.com/mgijax/mammalian-phenotype-ontology/issues) MGD is funded by NIH/NHGRI grant HG000330. English The Mammalian Phenotype Ontology MPheno.ontology 1.2 The Mammalian Phenotype Ontology Copyright © 2007, 2008, 2011, 2012, 2015, 2024 by The Jackson Laboratory. 2025-05-22 definition term replaced by Terms in use by Europhenome Terms in use by IMPC Terms in use by IMPC Early Viability Group Terms in use by Mouse Genetics Project, Sanger Institute, Wellcome Trust Genome Campus subset_property consider has_alternative_id has_broad_synonym database_cross_reference has_exact_synonym has_narrow_synonym has_obo_format_version has_obo_namespace has_related_synonym in_subset MPheno.ontology RO:0002503 towards MPheno.ontology RO:0002573 has modifier the observable morphological, physiological, behavioral and other characteristics of mammalian organisms that are manifested through development and lifespan MPheno.ontology MP:0000001 mammalian phenotype MP:0000001 the observable morphological, physiological, behavioral and other characteristics of mammalian organisms that are manifested through development and lifespan https://orcid.org/0000-0003-3691-0324 OBSOLETE. Anatomy MPheno.ontology MP:0000002 obsolete Morphology true MP:0000002 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue MP:0000011 abnormality of adipose tissue adipose tissue abnormalities adipose tissue dysplasia MPheno.ontology MP:0000003 abnormal adipose tissue morphology MP:0000003 any structural anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue MESH:A10.165.114 MGI:cwg true MP:0000004 increased amount of the thermogenic form of adipose tissue that is composed of brown adipocytes MP:0001779 increased brown fat MPheno.ontology increased brown fat amount MP:0000005 increased brown adipose tissue amount MP:0000005 increased amount of the thermogenic form of adipose tissue that is composed of brown adipocytes MGI:cwg true MP:0000006 true MP:0000007 increased quantity of fat-storing cells/tissue MP:0001782 increased white fat MPheno.ontology increased white fat amount MP:0000008 increased white adipose tissue amount MP:0000008 increased quantity of fat-storing cells/tissue MGI:cwg true MP:0000009 any structural anomaly of the encapsulated adipose tissue in the abdomen abnormal abdominal fat depot morphology MPheno.ontology MP:0000010 abnormal abdominal fat pad morphology MP:0000010 any structural anomaly of the encapsulated adipose tissue in the abdomen PMID:8941642 true MP:0000011 OBSOLETE. reduction in amount or absence of adipose tissue beneath the skin MP:0008843 MP:0008844 MPheno.ontology MP:0000012 Obsolete. Use instead the terms decreased subcutaneous adipose tissue amount (MP:0008844) or absent subcutaneous adipose tissue (MP:0008843). obsolete loss of subcutaneous adipose tissue true MP:0000012 OBSOLETE. reduction in amount or absence of adipose tissue beneath the skin PMID:8941642 alterations in the normal placement of body fat MPheno.ontology abnormal fat distribution MP:0000013 abnormal adipose tissue distribution MP:0000013 alterations in the normal placement of body fat PMID:10471508 true MP:0000014 anomaly in the coloration of the skin of the outer ear due to changes in the amount, shape, or distribution of cells producing pigment MPheno.ontology MP:0000015 abnormal ear pigmentation MP:0000015 anomaly in the coloration of the skin of the outer ear due to changes in the amount, shape, or distribution of cells producing pigment MGI:cwg MGI:llw2 true MP:0000016 outer ears of a greater than normal size enlarged ears increased outer ear size large ears macrotia MPheno.ontology MP:0000017 big ears MP:0000017 outer ears of a greater than normal size MGI:cwg outer ears of a smaller than normal size decreased ear size microtia reduced ear size reduced pinna size MPheno.ontology MP:0000018 small ears MP:0000018 outer ears of a smaller than normal size MGI:cwg increased width of the epidermal and cartilaginous tissue that makes up the ear MPheno.ontology MP:0000019 thick ears MP:0000019 increased width of the epidermal and cartilaginous tissue that makes up the ear PMID:1709129 loss of the outer layer of the epidermis of the ears in thick, dry scale-like patches MPheno.ontology MP:0000020 scaly ears MP:0000020 loss of the outer layer of the epidermis of the ears in thick, dry scale-like patches PMID:1709129 protuberant outer ears MPheno.ontology protruding ears MP:0000021 prominent ears MP:0000021 protuberant outer ears PMID:10769039 any anomaly in the characteristic surface outline or contour of the external ear MPheno.ontology MP:0000022 abnormal ear shape MP:0000022 any anomaly in the characteristic surface outline or contour of the external ear PMID:10921880 anomaly in the space between or the placement of the outer ears abnormal ear distance/ position abnormal pinna position abnormal pinnae position abnormal position of pinna MPheno.ontology MP:0000023 abnormal ear position MP:0000023 anomaly in the space between or the placement of the outer ears MGI:cwg outer ears are situated below the normal location often giving the perception of protruding from the head low set ears low-set ears lowset ears MPheno.ontology melotia MP:0000024 lowered ear position MP:0000024 outer ears are situated below the normal location often giving the perception of protruding from the head MGI:llw2 greater than normal space between the outer ears hypertelorism of ears increased distance between the ears MPheno.ontology MP:0000025 otic hypertelorism MP:0000025 greater than normal space between the outer ears MGI:cwg any structural anomaly of any components of the labyrinth, including the semicircular canals, vestibule and cochlea GO:0042472 inner ear dysplasia MPheno.ontology MP:0000026 abnormal inner ear morphology MP:0000026 any structural anomaly of any components of the labyrinth, including the semicircular canals, vestibule and cochlea ISBN:0-683-40008-8 OBSOLETE. MPheno.ontology MP:0000027 obsolete horizontal canal defects true MP:0000027 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly in the part of the vestibular ganglion that receives fibers from the maculae of the utricle and the sacculae and the ampullae of the anterior and lateral semicircular ducts pars superior vestibularis dysplasia MPheno.ontology MP:0000028 abnormal pars superior vestibularis morphology MP:0000028 any structural anomaly in the part of the vestibular ganglion that receives fibers from the maculae of the utricle and the sacculae and the ampullae of the anterior and lateral semicircular ducts ISBN:0-683-40008-8 any structural anomaly of the largest of the three auditory ossicles, which resembles a club or hammer MPheno.ontology MP:0000029 abnormal malleus morphology MP:0000029 any structural anomaly of the largest of the three auditory ossicles, which resembles a club or hammer ISBN:0-683-40008-8 MGI:cwg any structural anomaly of the bony ring at the ear canal to which the tympanic membrane is attached tympanic ring dysplasia MPheno.ontology abnormal ectotympanic MP:0000030 abnormal tympanic ring morphology MP:0000030 any structural anomaly of the bony ring at the ear canal to which the tympanic membrane is attached ISBN:0-683-40008-8 any structural anomaly of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound cochlear dysplasia MPheno.ontology MP:0000031 abnormal cochlea morphology MP:0000031 any structural anomaly of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound ISBN:0-683-40008-8 a retrogressive impairment of function or destruction of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound MPheno.ontology MP:0000032 cochlear degeneration MP:0000032 a retrogressive impairment of function or destruction of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound ISBN:0-683-40008-8 missing spiral tube within the cochlea that contains the organ of Corti, the neuroepithelial receptor organ for hearing absent cochlear duct MPheno.ontology MP:0000033 absent scala media MP:0000033 missing spiral tube within the cochlea that contains the organ of Corti, the neuroepithelial receptor organ for hearing ISBN:0-683-40008-8 any structural anomaly of the cavity between the semicircular canals and the cochlea of the inner ear abnormal vestibule morphology vestibular dysplasia abnormal bony labyrinth vestibule morphology abnormal inner ear vestibulum morphology abnormal osseous labyrinth vestibule morphology abnormal vestibule of bony labyrinth morphology MPheno.ontology MP:0000034 abnormal inner ear vestibule morphology MP:0000034 any structural anomaly of the cavity between the semicircular canals and the cochlea of the inner ear ISBN:0-683-40008-8 any structural anomaly of the complex arrangement of communicating canaliculi and sacs suspended within the cavity of the bony labyrinth of the inner ear MPheno.ontology MP:0000035 abnormal membranous labyrinth morphology MP:0000035 any structural anomaly of the complex arrangement of communicating canaliculi and sacs suspended within the cavity of the bony labyrinth of the inner ear ISBN:0-683-40008-8 missing organ of balance; consists of three bony tubes within which the semicircular ducts are located MPheno.ontology MP:0000036 absent semicircular canals MP:0000036 missing organ of balance; consists of three bony tubes within which the semicircular ducts are located ISBN:0-683-40008-8 any structural anomaly of the lateral long bony tube of the labyrinth that is involved in the sense of balance horizontal semicircular canal dysplasia MPheno.ontology MP:0000037 abnormal lateral semicircular canal morphology MP:0000037 any structural anomaly of the lateral long bony tube of the labyrinth that is involved in the sense of balance MGI:cwg https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 OBSOLETE. decreased diameter of the three long bony tubes of the labyrinth that are involved in the sense of balance MP:0002428 MPheno.ontology MP:0000038 obsolete thin semicircular canals true MP:0000038 OBSOLETE. decreased diameter of the three long bony tubes of the labyrinth that are involved in the sense of balance MGI:cwg any structural anomaly of the cartilage or bony capsule surrounding the inner ear mechanism abnormal auditory capsule morphology abnormal periotic capsule morphology MPheno.ontology MP:0000039 abnormal otic capsule morphology MP:0000039 any structural anomaly of the cartilage or bony capsule surrounding the inner ear mechanism ISBN:0-683-40008-8 abnormal auditory capsule morphology https://www.medilexicon.com/dictionary/14089 missing small bones of the tympanic cavity MPheno.ontology MP:0000040 absent middle ear ossicles MP:0000040 missing small bones of the tympanic cavity ISBN:0-683-40008-8 PMID:1346922 missing small membranous canal of the inner ear; connecting membranous labyrinth with the endolymphatic sac MPheno.ontology MP:0000041 absent endolymphatic duct MP:0000041 missing small membranous canal of the inner ear; connecting membranous labyrinth with the endolymphatic sac ISBN:0-683-40008-8 any structural anomaly associated with the highly specialized epithelium in the floor of the ductus cochlearis; also referred to a spiral organ (organum spirale), or acoustic papilla abnormal spiral organ morphology MPheno.ontology MP:0000042 abnormal organ of Corti morphology MP:0000042 any structural anomaly associated with the highly specialized epithelium in the floor of the ductus cochlearis; also referred to a spiral organ (organum spirale), or acoustic papilla ISBN:0-683-40008-8 a retrogressive impairment of function or destruction of all or part the highly specialized epithelium in the floor of the ductus cochlearis degeneration of organ of Corti MPheno.ontology MP:0000043 organ of Corti degeneration MP:0000043 a retrogressive impairment of function or destruction of all or part the highly specialized epithelium in the floor of the ductus cochlearis MGI:cwg absence of the highly specialized epithelium in the floor of the ductus cochlearis absent acoustic papilla absent spiral organ MPheno.ontology MP:0000044 absent organ of Corti MP:0000044 absence of the highly specialized epithelium in the floor of the ductus cochlearis PMID:10072433 any structural anomaly of the sensory epithelial cells of the inner ear abnormal hair cells hair cell dysplasia MPheno.ontology MP:0000045 abnormal hair cell morphology MP:0000045 any structural anomaly of the sensory epithelial cells of the inner ear ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 any structural anomaly of the transverse groove on the membranous amupulla of each semicircular duct, where the nerve enters the ampullary crest abnormal ampullary groove morphology abnormal ampullary sulcus morphology MPheno.ontology MP:0000046 abnormal sulcus ampullaris morphology MP:0000046 any structural anomaly of the transverse groove on the membranous amupulla of each semicircular duct, where the nerve enters the ampullary crest ISBN:0-683-40008-8 MGI:cwg OBSOLETE. MP:0004482 MPheno.ontology MP:0000047 obsolete abnormal interdental cells true MP:0000047 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly in the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph; stria vascularis normally consists of marginal, intermediate, and basal cells: basal and marginal cell tight junctions preclude paracellular diffusion into and out of the intrastrial space while basal and intermediate cells secrete into this space potassium ions derived from fibrocytes through gap junctions abnormal psalterial cord morphology abnormal stria vascularis ductus cochlearis morphology abnormal vascular stripe morphology MPheno.ontology MP:0000048 abnormal stria vascularis morphology MP:0000048 any structural anomaly in the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph; stria vascularis normally consists of marginal, intermediate, and basal cells: basal and marginal cell tight junctions preclude paracellular diffusion into and out of the intrastrial space while basal and intermediate cells secrete into this space potassium ions derived from fibrocytes through gap junctions ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any structural anomaly of any components of the tympanic cavity or its ossicles middle ear dysplasia MPheno.ontology MP:0000049 abnormal middle ear morphology MP:0000049 any structural anomaly of any components of the tympanic cavity or its ossicles ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0000050 OBSOLETE. MP:0003110 MPheno.ontology MP:0000051 obsolete absent process brevus true MP:0000051 OBSOLETE. https://orcid.org/0000-0003-3691-0324 early onset of the opening and spreading out of the outer ear MPheno.ontology MP:0000052 early ear unfolding MP:0000052 early onset of the opening and spreading out of the outer ear PMID:9135074 overly robust development of the ear MPheno.ontology MP:0000053 excessive ear growth MP:0000053 overly robust development of the ear PMID:9135074 late onset of the growth of the outer ear delayed ear elevation delayed ear extroversion MPheno.ontology MP:0000054 delayed ear emergence MP:0000054 late onset of the growth of the outer ear PMID:9722615 true MP:0000055 true MP:0000056 true MP:0000057 true MP:0000058 true MP:0000059 late onset of the formation of bone MPheno.ontology MP:0000060 delayed bone ossification MP:0000060 late onset of the formation of bone PMID:9144284 easily damaged or broken bones MP:0001543 brittle bones fragile bones general bone weakness increased susceptibility to bone fracture increased susceptibility to fractures MPheno.ontology MP:0000061 fragile skeleton MP:0000061 easily damaged or broken bones PMID:8393145 increase in the quatitative measurment value of mineral content of bone; BMD is used as an indicator of bone strength used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size MP:0010120 elevated BMD elevated bone mineral density increased BMD increased bone density MPheno.ontology MP:0000062 increased bone mineral density MP:0000062 increase in the quatitative measurment value of mineral content of bone; BMD is used as an indicator of bone strength used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 reduction in the quatitative measurment value of mineral content of bone; BMD is used as an indicator of bone strength used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size MP:0010121 decreased BMD decreased bone density reduced BMD reduced bone density reduced bone mineral density osteopenia MPheno.ontology MP:0000063 decreased bone mineral density MP:0000063 reduction in the quatitative measurment value of mineral content of bone; BMD is used as an indicator of bone strength used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 inability to degrade the organic and inorganic phases of bone by absorption, usually by the abnormal function or by absence of osteoclasts MPheno.ontology MP:0000064 failure of bone resorption MP:0000064 inability to degrade the organic and inorganic phases of bone by absorption, usually by the abnormal function or by absence of osteoclasts PMID:10709991 PMID:1997203 any structural anomaly of the medullary cavities of the bones abnormal bone marrow cavities abnormal bone medullary cavity morphology MPheno.ontology MP:0000065 Note that this term refers to the structure of the cavity itself, not to the contents of the cavity (i.e. the bone marrow). abnormal bone marrow cavity morphology MP:0000065 any structural anomaly of the medullary cavities of the bones ISBN:0-683-40008-8 PMID:10709991 reduction in bone mass or atrophy of skeletal tissue; may lead to skeletal fragility MPheno.ontology reduced bone mass MP:0000066 osteoporosis MP:0000066 reduction in bone mass or atrophy of skeletal tissue; may lead to skeletal fragility ISBN:0-683-40008-8 PMID:10471508 https://orcid.org/0000-0003-3691-0324 excessive formation of dense trabecular bone and excessive calcified cartilage formation; may lead to anemia and extramedullary hematopoiesis MPheno.ontology MP:0000067 osteopetrosis MP:0000067 excessive formation of dense trabecular bone and excessive calcified cartilage formation; may lead to anemia and extramedullary hematopoiesis ISBN:0-683-40008-8 MESH:C05.116.099.708.702.678 true MP:0000068 kyphosis combined with scoliosis scoliokyphosis MPheno.ontology MP:0000069 kyphoscoliosis MP:0000069 kyphosis combined with scoliosis MGI:cml PMID:11136708 true MP:0000070 decrease in the number of normal cells in normal arrangement in the axial skeleton, typically resulting in decreased size hypoplastic axial skeleton MPheno.ontology MP:0000071 axial skeleton hypoplasia MP:0000071 decrease in the number of normal cells in normal arrangement in the axial skeleton, typically resulting in decreased size ISBN:0-683-40008-8 PMID:10572046 https://orcid.org/0000-0003-3691-0324 true MP:0000072 missing skeletal elements comprising the cranium and face absence of craniofacial bones MPheno.ontology MP:0000073 absent craniofacial bones MP:0000073 missing skeletal elements comprising the cranium and face PMID:8837770 any structural anomaly of the bones of the skull enclosing the brain MP:0000076 abnormal calvaria morphology abnormal cranial vault morphology calvaria dysplasia neurocranium dysplasia MPheno.ontology MP:0000074 abnormal neurocranium morphology MP:0000074 any structural anomaly of the bones of the skull enclosing the brain ISBN:0-683-40008-8 PMID:10572046 missing bones of the skull enclosing the brain absence of neurocranium MPheno.ontology MP:0000075 absent neurocranium MP:0000075 missing bones of the skull enclosing the brain ISBN:0-683-40008-8 PMID:9753320 true MP:0000076 any structural anomaly of the bone of the cranium that lies above and anterior to the occipital bone in some mammals MP:0000110 interparietal bone dysplasia MPheno.ontology MP:0000077 abnormal interparietal bone morphology MP:0000077 any structural anomaly of the bone of the cranium that lies above and anterior to the occipital bone in some mammals PMID:10742104 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young supraoccipital bone dysplasia MPheno.ontology MP:0000078 The basioccipital, exoccipital and supraoccipital bones are distinct bones in prenatal, neonatal and some early juvenile stages in most mammals. In adult organisms, these structures are fused to form the unified adult occipital bone. abnormal supraoccipital bone morphology MP:0000078 any structural anomaly of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young PMID:10742104 any structural anomaly of the basilar process of the occipital bone in the base of the cranium, frequently forming a direct part of the occipital in the adult, but usually distinct in the young basioccipital bone dysplasia MPheno.ontology MP:0000079 The basioccipital, exoccipital and supraoccipital bones are distinct bones in prenatal, neonatal and some early juvenile stages in most mammals. In adult organisms, these structures are fused to form the unified adult occipital bone. abnormal basioccipital bone morphology MP:0000079 any structural anomaly of the basilar process of the occipital bone in the base of the cranium, frequently forming a direct part of the occipital in the adult, but usually distinct in the young ISBN:0-683-40008-8 any structural anomaly of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young exoccipital bone dysplasia MPheno.ontology MP:0000080 The basioccipital, exoccipital and supraoccipital bones are distinct bones in prenatal, neonatal and some early juvenile stages in most mammals. In adult organisms, these structures are fused to form the unified adult occipital bone. abnormal exoccipital bone morphology MP:0000080 any structural anomaly of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young ISBN:0-683-40008-8 PMID:1680563 early closure of one or more of the joints (sutures) between the bones of the skull; can cause alterations in head shape, facial features, brain growth and, in rare cases, damage to the brain due to increased pressure inside the skull MP:0005268 Fyler:4336 cranial suture synostosis craniostosis craniosynostosis early fusion of cranial sutures MPheno.ontology MP:0000081 premature cranial suture closure MP:0000081 early closure of one or more of the joints (sutures) between the bones of the skull; can cause alterations in head shape, facial features, brain growth and, in rare cases, damage to the brain due to increased pressure inside the skull PMID:7597092 https://rarediseases.info.nih.gov/diseases/6209/craniosynostosis parietal bones of the skull partly coincide instead of articulating MPheno.ontology MP:0000082 overlapping parietal bones MP:0000082 parietal bones of the skull partly coincide instead of articulating PMID:7597092 OBSOLETE. growth of extra bony structures in or near the cranium MP:0014166 heterotopic cranial bone growth MPheno.ontology MP:0000083 obsolete ectopic cranial bone growth true MP:0000083 OBSOLETE. growth of extra bony structures in or near the cranium PMID:7597092 any structural anomaly in the membranous interval at the margins of cranial bones in neonates abnormal fontanel morphology fontanelle dysplasia MPheno.ontology MP:0000084 abnormal fontanelle morphology MP:0000084 any structural anomaly in the membranous interval at the margins of cranial bones in neonates ISBN:0-683-40008-8 PMID:9949198 enlarged diamond-shaped membranous interval at the junction of the coronal, sagittal and metopic sutures of the cranium enlarged anterior fontanelle enlarged frontal fontanelle large anterior fontanel large frontal fontanelle MPheno.ontology MP:0000085 large anterior fontanelle MP:0000085 enlarged diamond-shaped membranous interval at the junction of the coronal, sagittal and metopic sutures of the cranium ISBN:0-683-40008-8 PMID:9949198 true MP:0000086 missing the lower bony framework of the mouth where the inferior teeth are held absence of lower jaw absence of mandible absent lower jaw agenesis of the lower jaw bone agenesis of the mandible aplasia of the lower jaw bone aplasia of the mandible mandibular agenesis mandibular agnathia mandibular aplasia MPheno.ontology MP:0000087 absent mandible MP:0000087 missing the lower bony framework of the mouth where the inferior teeth are held ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 reduced length of the lower bony framework of the mouth where the inferior teeth are held reduced mandible length truncated mandible MPheno.ontology MP:0000088 short mandible MP:0000088 reduced length of the lower bony framework of the mouth where the inferior teeth are held MGI:cwg true MP:0000089 missing anterior and interior portion of the maxilla absence of premaxilla MPheno.ontology MP:0000090 absent premaxilla MP:0000090 missing anterior and interior portion of the maxilla ISBN:0-683-40008-8 PMID:7914451 length reduction or truncation of the anterior and interior portion of the maxilla short incisive bone truncated premaxilla MPheno.ontology MP:0000091 short premaxilla MP:0000091 length reduction or truncation of the anterior and interior portion of the maxilla ISBN:0-683-40008-8 PMID:9949198 true MP:0000092 true MP:0000093 missing projecting ridge on the inferior surface of the body of the maxilla and mandible containing the tooth sockets absence of alveolar process absent alveolar bone absent alveolar ridge MPheno.ontology MP:0000094 absent alveolar process MP:0000094 missing projecting ridge on the inferior surface of the body of the maxilla and mandible containing the tooth sockets ISBN:0-683-40008-8 PMID:7914451 true MP:0000095 true MP:0000096 reduced length of the upper jaw bone MP:0000093 decreased maxilla length reduced maxilla length reduced upper jaw length MPheno.ontology MP:0000097 short maxilla MP:0000097 reduced length of the upper jaw bone ISBN:0-683-40008-8 PMID:9949198 any structural anomaly of the triangular flat bone of the nasal septum vomer bone dysplasia MPheno.ontology MP:0000098 abnormal vomer bone morphology MP:0000098 any structural anomaly of the triangular flat bone of the nasal septum ISBN:0-683-40008-8 missing triangular flat bone of the nasal septum absence of vomer bone MPheno.ontology MP:0000099 absent vomer bone MP:0000099 missing triangular flat bone of the nasal septum ISBN:0-683-40008-8 PMID:9753320 any structural anomaly of the single midline facial bone that separates the nasal cavity from the brain, located at the roof of the nose between the two orbits; it is cubical in shape, relatively lightweight because of its spongy construction, and contributes to the anterior cranial fossa abnormal ethmoidal bone morphology ethmoid bone dysplasia ethmoidal bone dysplasia MPheno.ontology MP:0000100 abnormal ethmoid bone morphology MP:0000100 any structural anomaly of the single midline facial bone that separates the nasal cavity from the brain, located at the roof of the nose between the two orbits; it is cubical in shape, relatively lightweight because of its spongy construction, and contributes to the anterior cranial fossa ISBN:0-683-40008-8 https://radiopaedia.org/articles/ethmoid-bone-1 missing the single midline facial bone that separates the nasal cavity from the brain, located at the roof of the nose between the two orbits; it is cubical in shape, relatively lightweight because of its spongy construction, and contributes to the anterior cranial fossa absent ethmoidal bone MPheno.ontology MP:0000101 absent ethmoid bone MP:0000101 missing the single midline facial bone that separates the nasal cavity from the brain, located at the roof of the nose between the two orbits; it is cubical in shape, relatively lightweight because of its spongy construction, and contributes to the anterior cranial fossa ISBN:0-683-40008-8 PMID:9753320 https://radiopaedia.org/articles/ethmoid-bone-1 any structural anomaly of either of two rectangular bone plates forming the bridge of the nose nasal bone dysplasia MPheno.ontology MP:0000102 abnormal nasal bone morphology MP:0000102 any structural anomaly of either of two rectangular bone plates forming the bridge of the nose ISBN:0-683-40008-8 PMID:7914451 decrease in the number of normal cells in normal arrangement in the nasal bone, typically resulting in decreased size hypoplastic nasal bone MPheno.ontology MP:0000103 nasal bone hypoplasia MP:0000103 decrease in the number of normal cells in normal arrangement in the nasal bone, typically resulting in decreased size PMID:9949198 any structural anomaly of the irregularly shaped bone of the base of the skull sphenoid bone dysplasia MPheno.ontology MP:0000104 abnormal sphenoid bone morphology MP:0000104 any structural anomaly of the irregularly shaped bone of the base of the skull ISBN:0-683-40008-8 PMID:9753320 anomaly in the formation of the bone at the base of the sphenoid bone; arises from an ossification center independent of the remainder of the sphenoid bone defective ossification of basisphenoid MPheno.ontology MP:0000105 impaired ossification of basisphenoid bone MP:0000105 anomaly in the formation of the bone at the base of the sphenoid bone; arises from an ossification center independent of the remainder of the sphenoid bone ISBN:0-683-40008-8 PMID:9753320 any structural anomaly of part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone basisphenoid bone dysplasia MPheno.ontology MP:0000106 abnormal basisphenoid bone morphology MP:0000106 any structural anomaly of part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone ISBN:0-683-40008-8 any structural anomaly of the single bone forming the forehead and roof of the eye orbit frontal bone dysplasia MPheno.ontology MP:0000107 abnormal frontal bone morphology MP:0000107 any structural anomaly of the single bone forming the forehead and roof of the eye orbit ISBN:0-683-40008-8 PMID:7914451 incomplete merging or fusion of the tissues (e.g. the two globular processes) along the facial midline that normally unite to form the face median facial cleft mid-face cleft mid-facial cleft midfacial cleft MPheno.ontology MP:0000108 midline facial cleft MP:0000108 incomplete merging or fusion of the tissues (e.g. the two globular processes) along the facial midline that normally unite to form the face ISBN:0-683-40008-8 PMID:9753320 any structural anomaly of either of a pair of membranous bones of the roof of the skull located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium parietal bone dysplasia MPheno.ontology MP:0000109 abnormal parietal bone morphology MP:0000109 any structural anomaly of either of a pair of membranous bones of the roof of the skull located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium https://orcid.org/0000-0002-6490-7723 https://quizlet.com/222497251/cranial-bones-flash-cards/ https://www.merriam-webster.com/dictionary/parietal%20bone true MP:0000110 congenital fissure of the tissues normally uniting to form the palate MP:0000429 Fyler:4876 palatoschisis MPheno.ontology MP:0000111 cleft palate MP:0000111 congenital fissure of the tissues normally uniting to form the palate ISBN:0-683-40008-8 PMID:9753320 true MP:0000112 true MP:0000113 incomplete fusion of the chin; usually a fissure MPheno.ontology MP:0000114 cleft chin MP:0000114 incomplete fusion of the chin; usually a fissure ISBN:0-683-40008-8 PMID:9256350 true MP:0000115 any anomaly in the formation of the teeth abnormal odontogenesis abnormal odontogeny abnormal odontosis abnormal tooth morphogenesis tooth development abnormalities MPheno.ontology MP:0000116 abnormal tooth development MP:0000116 any anomaly in the formation of the teeth MGI:cwg missing the local thickening that is normally formed within the primary dental lamina and grows into a solid epithelial tooth bud that invades the underlying mesenchyme; the placodes consist of thickened epithelium and underlying neural crest derived mesenchyme, and they function as the first signaling centers of the tooth absence of tooth anlage absence of tooth primordium absent dental anlage absent dental placode absent dental primordium absent odontogenic placode absent tooth anlage absent tooth primordia absent tooth primordium MPheno.ontology MP:0000117 absent tooth placode MP:0000117 missing the local thickening that is normally formed within the primary dental lamina and grows into a solid epithelial tooth bud that invades the underlying mesenchyme; the placodes consist of thickened epithelium and underlying neural crest derived mesenchyme, and they function as the first signaling centers of the tooth PMID:10227294 https://orcid.org/0000-0002-6490-7723 https://www.ncbi.nlm.nih.gov/books/NBK27071/ failure of differentiation of the teeth MPheno.ontology MP:0000118 arrest of tooth development MP:0000118 failure of differentiation of the teeth PMID:7958926 any anomaly in the developmental process in which a tooth moves in an axial and occlusal direction from its developmental position within the alveolar crypt in the jaw to its final functional position in the occlusal plane tooth eruption abnormalities MPheno.ontology MP:0000119 abnormal tooth eruption MP:0000119 any anomaly in the developmental process in which a tooth moves in an axial and occlusal direction from its developmental position within the alveolar crypt in the jaw to its final functional position in the occlusal plane https://books.google.com/books?isbn=8131240363 https://orcid.org/0000-0002-6490-7723 perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth bad bite dental malocclusion malalignment of upper and lower dental arches malocclusion of teeth misalignment of upper and lower dental arches MPheno.ontology MP:0000120 malocclusion MP:0000120 perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth PMID:10742104 inability of the teeth to grow into the oral cavity MPheno.ontology MP:0000121 failure of tooth eruption MP:0000121 inability of the teeth to grow into the oral cavity ISBN:0-683-40008-8 PMID:10709991 early onset of the growth of the teeth out of the gums MPheno.ontology MP:0000122 premature tooth eruption MP:0000122 early onset of the growth of the teeth out of the gums PMID:1709129 true MP:0000123 OBSOLETE. absence of some or all of the bony structures of the upper and lower jaws used in mastication MP:0030610 MPheno.ontology MP:0000124 obsolete absent teeth true MP:0000124 OBSOLETE. absence of some or all of the bony structures of the upper and lower jaws used in mastication ISBN:0-683-40008-8 PMID:10709991 absence of the pairs of long teeth that are the most anterior and prominent in the jaw absence of incisors MPheno.ontology MP:0000125 absent incisors MP:0000125 absence of the pairs of long teeth that are the most anterior and prominent in the jaw MGI:llw2 fragile and likely to break teeth MPheno.ontology MP:0000126 brittle teeth MP:0000126 fragile and likely to break teeth PMID:10742104 deterioration or loss over time of the molars degenerated molars MPheno.ontology MP:0000127 degenerate molars MP:0000127 deterioration or loss over time of the molars https://orcid.org/0000-0003-3691-0324 developmental delay of the growth of the molars MPheno.ontology MP:0000128 growth retardation of molars MP:0000128 developmental delay of the growth of the molars PMID:7914451 a retrogressive impairment of function or destruction of the epithelial cells of the inner later of the enamel organ of the developing tooth degeneration of ameloblasts MPheno.ontology MP:0000129 ameloblast degeneration MP:0000129 a retrogressive impairment of function or destruction of the epithelial cells of the inner later of the enamel organ of the developing tooth ISBN:0-683-40008-8 PMID:10742104 any structural anomaly of bone that has a lattice-like or spongy structure; it is highly vascular and contains intercommunicating spaces filled with bone marrow abnormal cancellous bone morphology abnormal spongy bone morphology abnormal spongy spongiosa morphology abnormal spongy substance morphology abnormal substantia trabecularis morphology MPheno.ontology MP:0000130 abnormal trabecular bone morphology MP:0000130 any structural anomaly of bone that has a lattice-like or spongy structure; it is highly vascular and contains intercommunicating spaces filled with bone marrow ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the rounded end of a long bone abnormal epiphysis morphology long bone epiphysis dysplasia MPheno.ontology MP:0000131 abnormal long bone epiphysis morphology MP:0000131 any structural anomaly of the rounded end of a long bone PMID:10742104 wider than normal rounded end of a long bone thick epiphysis MPheno.ontology MP:0000132 thickened long bone epiphysis MP:0000132 wider than normal rounded end of a long bone ISBN:0-683-40008-8 PMID:10709991 any structural anomaly of the conical section of bone between the epiphysis and diaphysis of the long bones; this section grows during childhood and juvenile stages and is completely ossified in adults abnormal metaphysis morphology long bone metaphysis dysplasia MPheno.ontology MP:0000133 abnormal long bone metaphysis morphology MP:0000133 any structural anomaly of the conical section of bone between the epiphysis and diaphysis of the long bones; this section grows during childhood and juvenile stages and is completely ossified in adults ISBN:0-683-40008-8 PMID:10709991 reduced or increased width of the superficial layer of compact bone MPheno.ontology abnormal cortical bone thickness MP:0000134 abnormal compact bone thickness MP:0000134 reduced or increased width of the superficial layer of compact bone ISBN:0-683-40008-8 PMID:10581033 thinner than normal superficial layer of compact bone decreased cortical bone thickness reduced compact bone thickness reduced cortical bone thickness thin compact bone thin cortical bone MPheno.ontology MP:0000135 decreased compact bone thickness MP:0000135 thinner than normal superficial layer of compact bone PMID:10742104 any structural anomaly of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system; microglia are scavengers, engulfing dead cells and other debris, and in Alzheimer's disease, microglia are found associated with dying nerve cells and amyloid plaques MPheno.ontology MP:0000136 abnormal microglial cell morphology MP:0000136 any structural anomaly of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system; microglia are scavengers, engulfing dead cells and other debris, and in Alzheimer's disease, microglia are found associated with dying nerve cells and amyloid plaques PMID:16322748 any structural anomaly of the bony segments of the spinal column MP:0001538 abnormal vertebra vertebra defect vertebral anomaly Fyler:4108 vertebra dysplasia MPheno.ontology MP:0000137 abnormal vertebrae morphology MP:0000137 any structural anomaly of the bony segments of the spinal column ISBN:0-683-40008-8 missing all of the bony segments of the spinal column absence of vertebrae MPheno.ontology MP:0000138 absent vertebrae MP:0000138 missing all of the bony segments of the spinal column PMID:8837770 loss of the bony protrusions on either side of the arch of a vertebrae at the point where the lamina joins the pedicle, between the superior and inferior articular processes; muscles and ligaments attach to these processes absence of transverse processes MPheno.ontology MP:0000139 absent vertebral transverse processes MP:0000139 loss of the bony protrusions on either side of the arch of a vertebrae at the point where the lamina joins the pedicle, between the superior and inferior articular processes; muscles and ligaments attach to these processes PMID:10804168 PMID:10804169 loss of the two short, thick processes, which project backward, one on either side, from the upper part of the body to the laminae absence of pedicles MPheno.ontology MP:0000140 absent vertebral pedicles MP:0000140 loss of the two short, thick processes, which project backward, one on either side, from the upper part of the body to the laminae ISBN:0-683-40008-8 PMID:10804168 PMID:10804169 any structural anomaly of the main cylindrical portion of the vertebra ventral to the vertebral canal abnormal vertebral bodies vertebral body dysplasia MPheno.ontology MP:0000141 abnormal vertebral body morphology MP:0000141 any structural anomaly of the main cylindrical portion of the vertebra ventral to the vertebral canal ISBN:0-683-40008-8 PMID:10572046 OBSOLETE. MPheno.ontology MP:0000142 obsolete An Extra Piece of Bone Rostral to C1 true MP:0000142 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MP:0004608 MP:0010703 MPheno.ontology MP:0000143 obsolete Broadening/Splitting of the Neural Arch of C2 true MP:0000143 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0000144 true MP:0000145 true MP:0000146 true MP:0000147 OBSOLETE. any structural anomaly of the bones of the shoulder or of the bones of the pelvis by which the limbs attach to the axial skeleton MP:0004508 MP:0004509 MP:0001540 abnormal shoulder/ pelvic girdle shoulder/ pelvic girdle defect MPheno.ontology MP:0000148 obsolete abnormal shoulder/ pelvic girdle morphology true MP:0000148 OBSOLETE. any structural anomaly of the bones of the shoulder or of the bones of the pelvis by which the limbs attach to the axial skeleton ISBN:0-683-40008-8 MGI:cwg any structural anomaly of either or both of the large, flat bones of the back part of the shoulder scapula dysplasia MPheno.ontology MP:0000149 abnormal scapula morphology MP:0000149 any structural anomaly of either or both of the large, flat bones of the back part of the shoulder ISBN:0-683-40008-8 any structural anomaly of the bones forming the bony wall of the chest abnormal ribs rib defect rib dysplasia MPheno.ontology MP:0000150 abnormal rib morphology MP:0000150 any structural anomaly of the bones forming the bony wall of the chest ISBN:0-683-40008-8 PMID:9778510 absence of all the pairs of bony structures that make up the body wall absence of ribs MPheno.ontology MP:0000151 absent ribs MP:0000151 absence of all the pairs of bony structures that make up the body wall PMID:7925010 missing part of rib structures near the spine, ribs do not contact vertebrae absence of proximal ribs MPheno.ontology MP:0000152 absent proximal rib MP:0000152 missing part of rib structures near the spine, ribs do not contact vertebrae PMID:10804168 PMID:10804169 forking or division of ribs, may be a result of partial rib fusions rib splitting MPheno.ontology MP:0000153 rib bifurcation MP:0000153 forking or division of ribs, may be a result of partial rib fusions ISBN:0-683-40008-8 appearance of one or more ribs as a single structure fused ribs fusion of ribs MPheno.ontology MP:0000154 rib fusion MP:0000154 appearance of one or more ribs as a single structure PMID:10804168 PMID:10804169 loss of bilateral symmetry in rib attachments to the vertebral column or to the sternum asymmetric rib articulation asymmetric rib attachment MPheno.ontology MP:0000155 asymmetric rib joints MP:0000155 loss of bilateral symmetry in rib attachments to the vertebral column or to the sternum PMID:7925010 OBSOLETE. MP:0000480 MPheno.ontology MP:0000156 obsolete Presence of 6 Vertebrosternal Ribs instead of 7 true MP:0000156 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the long flat bone of the chest that articulates with clavicle and first seven rib pairs; from rostral to caudal positions, the sternum consists of three parts: manubrium, body, and xiphoid process sternum defect sternum dysplasia MPheno.ontology MP:0000157 abnormal sternum morphology MP:0000157 any structural anomaly of the long flat bone of the chest that articulates with clavicle and first seven rib pairs; from rostral to caudal positions, the sternum consists of three parts: manubrium, body, and xiphoid process ISBN:0-683-40008-8 PMID:7925010 missing long flat bone of the chest; articulates with clavicle and first seven rib pairs MPheno.ontology MP:0000158 absent sternum MP:0000158 missing long flat bone of the chest; articulates with clavicle and first seven rib pairs ISBN:0-683-40008-8 PMID:10885747 any structural anomaly of the caudal tip of the sternum xiphoid process defect abnormal xiphisternum morphology abnormal xiphoid cartilage morphology xyphoid process dysplasia MPheno.ontology MP:0000159 abnormal xiphoid process morphology MP:0000159 any structural anomaly of the caudal tip of the sternum ISBN:0-683-40008-8 forward curvature of the spine, characterized by extensive flexion MP:0000068 humpback hunchback MPheno.ontology MP:0000160 kyphosis MP:0000160 forward curvature of the spine, characterized by extensive flexion ISBN:0-683-40008-8 MGI:cml PMID:10804168 PMID:11136708 lateral and rotational curvature of the spine MP:0000070 Fyler:4160 MPheno.ontology MP:0000161 scoliosis MP:0000161 lateral and rotational curvature of the spine ISBN:0-683-40008-8 PMID:11136708 PMID:9949198 anteriorly convex curvature of the spine saddle back MPheno.ontology MP:0000162 lordosis MP:0000162 anteriorly convex curvature of the spine ISBN:0-683-40008-8 PMID:10804169 any structural anomaly of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life cartilage dysplasia MPheno.ontology MP:0000163 abnormal cartilage morphology MP:0000163 any structural anomaly of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life ISBN:0-683-40008-8 anomaly in the formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life abnormal cartilage formation abnormal chondrogenesis dyschondrogenesis MPheno.ontology MP:0000164 abnormal cartilage development MP:0000164 anomaly in the formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life ISBN:0-683-40008-8 anomaly of the layer of the epiphyseal plate of a long bone where chondrocytes mature and enlarge MPheno.ontology abnormal long bone zone of hypertrophy MP:0000165 abnormal long bone hypertrophic chondrocyte zone MP:0000165 anomaly of the layer of the epiphyseal plate of a long bone where chondrocytes mature and enlarge ISBN:0-683-40008-8 PMID:10581033 any structural anomaly of a polymorphic cell that forms cartilage abnormal chondrocytes MPheno.ontology MP:0000166 abnormal chondrocyte morphology MP:0000166 any structural anomaly of a polymorphic cell that forms cartilage CL:0000138 fewer than normal numbers of polymorphic cells that form cartilage decreased chondrocyte cell number decreased number of chondrocytes reduced chondrocyte numbers MPheno.ontology MP:0000167 decreased chondrocyte number MP:0000167 fewer than normal numbers of polymorphic cells that form cartilage CL:0000138 anomaly in the formation of the soft, pulpy tissue filling the medullary cavities of bones abnormal bone marrow formation MPheno.ontology MP:0000168 abnormal bone marrow development MP:0000168 anomaly in the formation of the soft, pulpy tissue filling the medullary cavities of bones ISBN:0-683-40008-8 true MP:0000169 true MP:0000170 true MP:0000171 increased or decreased number of cells that make up the core cavities of bones when compared to controls MPheno.ontology MP:0000172 abnormal bone marrow cell number MP:0000172 increased or decreased number of cells that make up the core cavities of bones when compared to controls MGI:tc true MP:0000173 true MP:0000174 lack of all cells that make up the core cavities of bones MP:0000342 absence of bone marrow cell MPheno.ontology Loss of bone marrow cell loss of bone marrow cell MP:0000175 absent bone marrow cell MP:0000175 lack of all cells that make up the core cavities of bones MGI:cwg OBSOLETE. anomalous appearance of fat-forming cells in the bone marrow MPheno.ontology MP:0000176 obsolete bone marrow occupied by adipocytes true MP:0000176 OBSOLETE. anomalous appearance of fat-forming cells in the bone marrow MGI:cwg true MP:0000177 true MP:0000178 true MP:0000179 anomaly in the amount in the blood of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MP:0001549 MP:0005177 abnormal cholesterol level abnormal total circulating cholesterol level abnormal total plasma cholesterol level abnormal total serum cholesterol level MPheno.ontology MP:0000180 abnormal circulating cholesterol level MP:0000180 anomaly in the amount in the blood of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues ISBN:0-683-40008-8 any anomaly in the amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions abnormal blood LDL cholesterol level MPheno.ontology abnormal circulating beta-lipoprotein level MP:0000181 abnormal circulating LDL cholesterol level MP:0000181 any anomaly in the amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions https://orcid.org/0000-0003-3691-0324 greater amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions elevated LDL cholesterol level high LDL cholesterol level increased LDL cholesterol level elevated circulating LDL cholesterol level MPheno.ontology increased circulating beta-lipoprotein level MP:0000182 increased circulating LDL cholesterol level MP:0000182 greater amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions https://orcid.org/0000-0003-3691-0324 reduced amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions decreased LDL cholesterol level low LDL cholesterol level low circulating LDL cholesterol level reduced circulating LDL cholesterol level MPheno.ontology decreased circulating beta-lipoprotein level MP:0000183 decreased circulating LDL cholesterol level MP:0000183 reduced amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions https://orcid.org/0000-0003-3691-0324 any anomaly in the amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion MP:0001555 abnormal HDL cholesterol level abnormal HDL levels MPheno.ontology MP:0000184 abnormal circulating HDL cholesterol level MP:0000184 any anomaly in the amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion https://orcid.org/0000-0003-3691-0324 true MP:0000185 reduced amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion MP:0002618 decreased HDL cholesterol level low HDL cholesterol level low circulating HDL cholesterol level reduced circulating HDL level low serum HDL level MPheno.ontology MP:0000186 decreased circulating HDL cholesterol level MP:0000186 reduced amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion https://orcid.org/0000-0003-3691-0324 any anomaly in the concentration of triglyceride, a glycerol esterified at each of its three hydroxyl groups by a fatty acid; triglyceride is an important molecule for storage of fatty acids in adipose tissue MP:0001551 abnormal triacylglycerol level MPheno.ontology MP:0000187 abnormal triglyceride level MP:0000187 any anomaly in the concentration of triglyceride, a glycerol esterified at each of its three hydroxyl groups by a fatty acid; triglyceride is an important molecule for storage of fatty acids in adipose tissue ISBN:0-683-40008-8 MGI:cwg any anomaly in the concentration in the blood of the major monosaccharide of the body MP:0001557 abnormal blood glucose level MPheno.ontology MP:0000188 abnormal circulating glucose level MP:0000188 any anomaly in the concentration in the blood of the major monosaccharide of the body MGI:cwg low levels of plasma glucose in the circulating blood; this generally refers to a pathological state MP:0001558 MP:0002613 Decreased Blood Glucose Level low blood glucose levels hypoglycaemia MPheno.ontology MP:0000189 hypoglycemia MP:0000189 low levels of plasma glucose in the circulating blood; this generally refers to a pathological state ISBN:0-683-40008-8 true MP:0000190 true MP:0000191 any anomaly in the concentration of any inorganic substance that has importance in body functions MP:0001561 MPheno.ontology MP:0000192 abnormal mineral level MP:0000192 any anomaly in the concentration of any inorganic substance that has importance in body functions ISBN:0-683-40008-8 true MP:0000193 abnormally high concentration of calcium ions in the circulating blood MP:0001563 MP:0001768 hypercalcaemia hypercalcemia increased circulating calcium MPheno.ontology MP:0000194 increased circulating calcium level MP:0000194 abnormally high concentration of calcium ions in the circulating blood ISBN:0-683-40008-8 subnormal concentrations of calcium ions in the circulating blood MP:0001564 MP:0001769 decreased circulating calcium hypocalcaemia hypocalcemia reduced circulating calcium level MPheno.ontology MP:0000195 decreased circulating calcium level MP:0000195 subnormal concentrations of calcium ions in the circulating blood ISBN:0-683-40008-8 true MP:0000196 true MP:0000197 abnormally low concentrations of phosphates in the circulating blood MP:0001567 MP:0001774 hypophosphataemia hypophosphatemia reduced circulating phospate level MPheno.ontology MP:0000198 decreased circulating phosphate level MP:0000198 abnormally low concentrations of phosphates in the circulating blood ISBN:0-683-40008-8 anomaly in the blood level of the major blood protein that is important in maintaining the colloidal osmotic pressure, fatty acid transport and transporting large organic molecules MP:0001568 abnormal albumin level MPheno.ontology MP:0000199 abnormal circulating serum albumin level MP:0000199 anomaly in the blood level of the major blood protein that is important in maintaining the colloidal osmotic pressure, fatty acid transport and transporting large organic molecules MESH:D12.776.034.841 true MP:0000200 true MP:0000201 any anomaly in the concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters; low levels are seen in cases of hypophosphatasia MP:0001571 abnormal AP level abnormal alkaline phosphatase level GO:0004035 abnormal circulating ALP levels MPheno.ontology MP:0000202 abnormal circulating alkaline phosphatase level MP:0000202 any anomaly in the concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters; low levels are seen in cases of hypophosphatasia ISBN:0-683-40008-8 any anomaly in the concentration in the blood of the enzyme which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid MP:0001572 abnormal AST level abnormal aspartate aminotransferase level abnormal aspartate transaminase level abnormal circulating AAT level abnormal circulating ASAT level abnormal circulating SGOT level abnormal circulating serum glutamic oxaloacetic transaminase level MPheno.ontology MP:0000203 abnormal circulating aspartate transaminase level MP:0000203 any anomaly in the concentration in the blood of the enzyme which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid ISBN:0-683-40008-8 true MP:0000204 true MP:0000205 true MP:0000206 true MP:0000207 less than the average percentage of a volume of a blood sample occupied by red blood cells MP:0001580 decreased haematocrit reduced haematocrit reduced hematocrit MPheno.ontology MP:0000208 decreased hematocrit MP:0000208 less than the average percentage of a volume of a blood sample occupied by red blood cells MESH:E01.450.375.400 true MP:0000209 true MP:0000210 true MP:0000211 true MP:0000212 true MP:0000213 true MP:0000214 lack of mature red blood cells absence of RBCs absence of erythrocytes absence of red blood cells absent RBCs absent definitive erythrocyte MPheno.ontology MP:0000215 absent erythrocytes MP:0000215 lack of mature red blood cells PMID:7830794 lack of progenitors of the erythrocyte lineage absence of erythrocyte precursors absent erythrocyte precursors MPheno.ontology absent BFU-E absent CFU-E absent blast forming unit erythroid absent burst forming unit erythroid absent colony forming unit erythroid absent erythroid stem cell MP:0000216 absent erythroid progenitor cell MP:0000216 lack of progenitors of the erythrocyte lineage CL:0000038 PMID:7830794 any anomaly in the number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue MP:0001587 abnormal WBC cell abnormal leucocyte cell number abnormal white blood cell count abnormal white blood cell number leucocyte count abnormalities leukocyte count abnormalities white blood cell count abnormalities white blood cell number abnormalities MPheno.ontology MP:0000217 abnormal leukocyte cell number MP:0000217 any anomaly in the number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue CL:0000738 MESH:A11.118.637 greater than normal number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue increased WBC count increased WBC number increased leucocyte cell number increased leucocyte count increased leukocyte count increased white blood cell number leucocytosis leukocytosis MPheno.ontology MP:0000218 increased leukocyte cell number MP:0000218 greater than normal number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue CL:0000738 MESH:A11.118.637 greater than normal number of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes increased neutrophil count increased neutrophil number neutrophilia MPheno.ontology MP:0000219 increased neutrophil cell number MP:0000219 greater than normal number of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes CL:0000775 https://orcid.org/0000-0003-3691-0324 greater count of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood increased monocyte count increased monocyte number monocytosis MPheno.ontology MP:0000220 increased monocyte cell number MP:0000220 greater count of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood CL:0000576 reduction in the number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue decreased WBC count decreased WBC number decreased leucocyte count decreased leukocyte count decreased white blood cell number reduced WBC count reduced WBC number reduced leucocyte cell number reduced leucocyte count reduced leukocyte cell number reduced leukocyte count reduced white blood cell number leucocytopenia leucopenia leukocytopenia leukopenia lymphopenia MPheno.ontology MP:0000221 decreased leukocyte cell number MP:0000221 reduction in the number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue CL:0000738 MESH:A11.118.637 reduced count of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes decreased neutrophil count decreased neutrophil number neutropenia reduced neutrophil cell number reduced neutrophil count MPheno.ontology MP:0000222 decreased neutrophil cell number MP:0000222 reduced count of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes CL:0000775 https://orcid.org/0000-0003-3691-0324 reduced count of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood decreased monocyte count decreased monocyte number reduced monocyte cell number reduced monocyte count monocytopenia MPheno.ontology MP:0000223 decreased monocyte cell number MP:0000223 reduced count of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood CL:0000576 MGI:cwg true MP:0000224 true MP:0000225 deviation from normal for the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices MP:0001590 abnormal MCV abnormal mean cell volume MPheno.ontology MP:0000226 MCV is calculated by dividing the hematocrit by the total number of RBCs and multiplying this number by ten (10). abnormal mean corpuscular volume MP:0000226 deviation from normal for the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices ISBN:0-683-40008-8 MGI:cwg true MP:0000227 abnormal development of the non-nucleated cells of the blood (platelets, thrombocytes) involved in blood coagulation MP:0000211 MP:0000227 MP:0001583 MP:0001591 MP:0001592 MP:0002448 MPheno.ontology abnormal thrombocyte development abnormal thrombocyte differentiation MP:0000228 abnormal thrombopoiesis MP:0000228 abnormal development of the non-nucleated cells of the blood (platelets, thrombocytes) involved in blood coagulation MESH:G04.335.151.825.798 atypical production of or inability to produce the giant 50 to 100 micron diameter cells with greatly lobulated nuclei found in the bone marrow; mature blood platelets are released from their cytoplasm MP:0001593 abnormal megacaryocyte differentiation abnormal megalocaryocyte differentiation abnormal megalokaryocyte differentiation MPheno.ontology MP:0000229 abnormal megakaryocyte differentiation MP:0000229 atypical production of or inability to produce the giant 50 to 100 micron diameter cells with greatly lobulated nuclei found in the bone marrow; mature blood platelets are released from their cytoplasm CL:0000556 ISBN:0721601464 altered tension of the blood within the systemic arteries MP:0001594 MP:0002129 heart/cardiovascular system: blood pressure anomalies MGI:2173589 MPheno.ontology MP:0000230 abnormal systemic arterial blood pressure MP:0000230 altered tension of the blood within the systemic arteries https://orcid.org/0000-0003-3691-0324 sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states MP:0001595 MPheno.ontology MP:0000231 hypertension MP:0000231 sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states ISBN:0-683-40008-8 true MP:0000232 any anomaly in the rate of flow of the blood through vessels MP:0001597 MPheno.ontology MP:0000233 abnormal blood flow velocity MP:0000233 any anomaly in the rate of flow of the blood through vessels MGI:cwg true MP:0000234 true MP:0000235 true MP:0000236 OBSOLETE. fewer than the normal numbers of the various types of blood cells MP:0011182 reduced blood cell number reduction in hematopoietic cell types reduction in hemopoietic cell types MPheno.ontology MP:0000237 obsolete decreased blood cell number true MP:0000237 OBSOLETE. fewer than the normal numbers of the various types of blood cells PMID:10673499 absence of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface MP:0000349 absence of pre-B cell deficiency of pre-B cells loss of pre-B cell MPheno.ontology MP:0000238 absent pre-B cells MP:0000238 absence of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface MGI:tc PMID:10673499 lack of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages absence of myeloid colony forming progenitor cells absent CMPs MPheno.ontology absent CFU-S absent cfu-gemm absent colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte absent multipotential myeloid stem cell absent myeloid stem cell absent pluripotent stem cell (bone marrow) deficiency of myeloid colony forming progenitor cells MP:0000239 absent common myeloid progenitor cells MP:0000239 lack of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages CL:0000049 PMID:10673499 formation and development of blood cells outside the bone marrow, e.g., in the spleen, liver, or lymph nodes EMH extramedullary haematopoiesis extramedullary haemopoiesis extramedullary hemopoiesis extramedullary myelopoiesis MPheno.ontology MP:0000240 extramedullary hematopoiesis MP:0000240 formation and development of blood cells outside the bone marrow, e.g., in the spleen, liver, or lymph nodes MESH:G04.335.151.825.463 true MP:0000241 defect or reduced ability in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei MPheno.ontology MP:0000242 impaired fertilization MP:0000242 defect or reduced ability in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei ISBN:0-683-40008-8 involuntary shock-like contractions, variable in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles; generally due to a central nervous system lesion MPheno.ontology MP:0000243 myoclonus MP:0000243 involuntary shock-like contractions, variable in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles; generally due to a central nervous system lesion ISBN:0-683-40008-8 MESH:C10.597.350.500 true MP:0000244 atypical process of the formation of enucleated fetal and adult erythrocytes MP:0001608 abnormal definitive erythropoiesis abnormal erythrocyte development abnormal erythrocytopoiesis erythropoiesis abnormalities MPheno.ontology MP:0000245 abnormal erythropoiesis MP:0000245 atypical process of the formation of enucleated fetal and adult erythrocytes ISBN:0-683-40008-8 MGI:tc true MP:0000246 OBSOLETE. functional anomaly of this factor that is a co-regulator of mast cell growth and produced by T and B cells MP:0008590 MP:0008659 abnormal IL-10 physiology MPheno.ontology MP:0000247 This term is obsolete. Instead, use the terms abnormal circulating interleukin-10 level (MP:0008590) and its children or abnormal interleukin-10 secretion (MP:0008659) and its children. obsolete abnormal interleukin-10 physiology true MP:0000247 OBSOLETE. functional anomaly of this factor that is a co-regulator of mast cell growth and produced by T and B cells https://orcid.org/0000-0002-0371-1954 condition in which erythrocytes are larger than normal in size MP:0001610 macrocythemia megalocythemia megalocytosis MPheno.ontology MP:0000248 macrocytosis MP:0000248 condition in which erythrocytes are larger than normal in size ISBN:0-683-40008-8 MGI:cwg any functional anomaly of any of the tubes that convey blood including the arteries, arterioles, capillaries, venules, and veins blood vessel defects abnormal blood vessel function blood vessel physiology abnormalities MPheno.ontology MP:0000249 abnormal blood vessel physiology MP:0000249 any functional anomaly of any of the tubes that convey blood including the arteries, arterioles, capillaries, venules, and veins ISBN:0-683-40008-8 anomaly in the narrowing of the blood vessels by smooth muscle contraction MP:0001612 MP:0005593 abnormal vascular smooth muscle contraction MPheno.ontology MP:0000250 abnormal vasoconstriction MP:0000250 anomaly in the narrowing of the blood vessels by smooth muscle contraction ISBN:0-683-40008-8 MESH:G09.330.582.400.920 true MP:0000251 true MP:0000252 true MP:0000253 true MP:0000254 obstruction of the normal flux of blood within the blood vessel network MPheno.ontology blood vasculature congestion congested blood vasculature MP:0000255 blood vessel congestion MP:0000255 obstruction of the normal flux of blood within the blood vessel network ISBN:0-683-40008-8 MGI:tc a state in which the red blood cells have multiple small projections appearing over the cell circumference resembling a small burr or a sea urchin burr erythrocyte crenation echinosis MPheno.ontology MP:0000256 echinocytosis MP:0000256 a state in which the red blood cells have multiple small projections appearing over the cell circumference resembling a small burr or a sea urchin ISBN:0-683-40008-8 PMID:12594949 https://orcid.org/0000-0002-6490-7723 true MP:0000257 true MP:0000258 aberrant process of vascular formation MP:0001620 vascular development abnormalities MPheno.ontology MP:0000259 abnormal vascular development MP:0000259 aberrant process of vascular formation ISBN:0-683-40008-8 aberrant process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network MP:0001621 angiogenesis abnormalities MPheno.ontology MP:0000260 abnormal angiogenesis MP:0000260 aberrant process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0000261 failure of or inadequate acquisition of the characteristics and/or functions of the arteries MPheno.ontology MP:0000262 poor arterial differentiation MP:0000262 failure of or inadequate acquisition of the characteristics and/or functions of the arteries ISBN:0-683-40008-8 formation of vasculature, but failure to differentiate into stereotypic organized pattern absence of organized vascular network MPheno.ontology MP:0000263 absent organized vascular network MP:0000263 formation of vasculature, but failure to differentiate into stereotypic organized pattern PMID:9949198 failure of vasculature to form divisions (offshoots) MPheno.ontology MP:0000264 failure of vascular branching MP:0000264 failure of vasculature to form divisions (offshoots) PMID:9949198 abnormal closure or absence of the lumen of one or more blood vessels atretic blood vessel MPheno.ontology atretic blood vasculature blood vasculature atresia MP:0000265 blood vessel atresia MP:0000265 abnormal closure or absence of the lumen of one or more blood vessels ISBN:0-683-40008-8 any structural anomaly of the hollow, muscular organ that maintains the circulation of the blood MP:0000271 abnormal heart cardiac abnormalities cardiac defects heart abnormalities heart defects GO:0007505 abnormal cardiac morphology cardiac dysplasia MPheno.ontology MP:0000266 abnormal heart morphology MP:0000266 any structural anomaly of the hollow, muscular organ that maintains the circulation of the blood MESH:A07.541 PMID:7477375 aberrant formation or incomplete differentiation of the heart MP:0001624 abnormal cardiac development cardiac development abnormalities MPheno.ontology MP:0000267 abnormal heart development MP:0000267 aberrant formation or incomplete differentiation of the heart PMID:9949198 https://orcid.org/0000-0003-3691-0324 OBSOLETE. abnormal cardiac development, anterior cardiac development abnormalities, anterior MPheno.ontology MP:0000268 obsolete abnormal anterior cardiac development true MP:0000268 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any anomaly in the characteristic morphogenetic movements where the primitive heart tube loops asymmetrically during early development; this looping brings the primitive heart chambers into alignment preceding their future integration abnormal looping morphogenesis abnormal cardiac looping MPheno.ontology MP:0000269 abnormal heart looping MP:0000269 any anomaly in the characteristic morphogenetic movements where the primitive heart tube loops asymmetrically during early development; this looping brings the primitive heart chambers into alignment preceding their future integration GO:0001947 any structural anomaly of the primitive epithelial cardiac tube before the division into the chambers of the mature heart heart tube abnormalities abnormal cardiac tube morphology abnormal primitive heart morphology heart tube dysplasia MPheno.ontology MP:0000270 abnormal heart tube morphology MP:0000270 any structural anomaly of the primitive epithelial cardiac tube before the division into the chambers of the mature heart ISBN:0-683-40008-8 true MP:0000271 any structural anomaly of the main trunk of the systemic arterial system that originates from the base of the left ventricle of the heart and extends to the abdomen at the point where it branches into the common iliac arteries aorta abnormalities Fyler:1453 MA:0000062 abnormal aortae morphology aorta dysplasia MPheno.ontology MP:0000272 abnormal aorta morphology MP:0000272 any structural anomaly of the main trunk of the systemic arterial system that originates from the base of the left ventricle of the heart and extends to the abdomen at the point where it branches into the common iliac arteries ISBN:0-683-40008-8 MESH:A07.231.114.056 congenitally abnormal position of the aorta where the valve origin straddles the ventral septum and so receives ejected blood from the right ventricle as well as the left, frequently in conjunction with a ventricular septal defect Fyler:1432 DA aortic dextroposition dextroposition of the aorta overriding aorta MPheno.ontology MP:0000273 overriding aortic valve MP:0000273 congenitally abnormal position of the aorta where the valve origin straddles the ventral septum and so receives ejected blood from the right ventricle as well as the left, frequently in conjunction with a ventricular septal defect ISBN:0-683-40008-8 MGI:cml increase over normal size of the heart cardiomegaly increased heart size macrocardia megacardia megalocardia MPheno.ontology MP:0000274 enlarged heart MP:0000274 increase over normal size of the heart PMID:7477375 increase in the number of normal cells in normal arrangement in the heart, typically resulting in increased size hyperplastic heart MPheno.ontology MP:0000275 heart hyperplasia MP:0000275 increase in the number of normal cells in normal arrangement in the heart, typically resulting in increased size PMID:7926784 enlargement of heart right ventricular wall and septum from the increase in size of its cells Fyler:3609 hypertrophic right ventricle right ventricle hypertrophy right ventricular hypertrophy MPheno.ontology MP:0000276 heart right ventricle hypertrophy MP:0000276 enlargement of heart right ventricular wall and septum from the increase in size of its cells https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 any anomaly in the characteristic surface outline or contour of the heart heart shape abnormalities MPheno.ontology MP:0000277 abnormal heart shape MP:0000277 any anomaly in the characteristic surface outline or contour of the heart https://orcid.org/0000-0003-3691-0324 any structural anomaly of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart MP:0002994 abnormal myocardial fibers abnormal myocardial fibres myocardial fibers abnormalities myocardial fibres abnormalities abnormal adult cardiomyocyte morphology abnormal cardiac muscle cell morphology abnormal myocardial cell morphology abnormal myocardial fibre morphology myocardial fiber dysplasia myocardial fibre dysplasia MPheno.ontology MP:0000278 abnormal myocardial fiber morphology MP:0000278 any structural anomaly of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart PMID:7926784 decrease in the number of normal cells in normal arrangement in the heart ventricle, typically resulting in decreased size hypoplasia of ventriculum hypoplastic ventriculum MPheno.ontology MP:0000279 ventricular hypoplasia MP:0000279 decrease in the number of normal cells in normal arrangement in the heart ventricle, typically resulting in decreased size ISBN:0-683-40008-8 decreased depth of the cardiac wall of the heart ventricles MPheno.ontology MP:0000280 thin ventricular wall MP:0000280 decreased depth of the cardiac wall of the heart ventricles PMID:9362461 any structural anomaly of the wall between the two lower chambers of the heart; the ventricular septum consists of a very small membranous portion just beneath the aortic valve, and a large thick muscular portion consisting of three sections including the inlet septum, the trabecular septum, and the outlet septum MP:0005484 Fyler:1815 abnormal ventricular septum morphology interventricular septum dysplasia ventricular septum dysplasia MPheno.ontology MP:0000281 abnormal interventricular septum morphology MP:0000281 any structural anomaly of the wall between the two lower chambers of the heart; the ventricular septum consists of a very small membranous portion just beneath the aortic valve, and a large thick muscular portion consisting of three sections including the inlet septum, the trabecular septum, and the outlet septum MESH:A07.541.459.750 any structural anomaly of the thin membranous structure between the two heart atria Fyler:2002 abnormal atrial septum morphology atrial septum dysplasia interatrial septum dysplasia MPheno.ontology MP:0000282 abnormal interatrial septum morphology MP:0000282 any structural anomaly of the thin membranous structure between the two heart atria MESH:A07.541.459 true MP:0000283 both the aorta and the pulmonary trunk originate, either in whole or in part, from the right ventricle; often found in conjunction with a ventricular septal defect MP:0000283 Fyler:0600 Fyler:600 DORV dextraposed ascending aorta double outlet heart right ventricle double-outflow right ventricle MPheno.ontology MP:0000284 double outlet right ventricle MP:0000284 both the aorta and the pulmonary trunk originate, either in whole or in part, from the right ventricle; often found in conjunction with a ventricular septal defect ISBN:0-683-40008-8 any structural anomaly of the membranous folds of the heart that prevent reflux of fluid valve abnormalities valve defects abnormal cardiac valve morphology cardiac valve dysplasia heart valve dysplasia MPheno.ontology MP:0000285 abnormal heart valve morphology MP:0000285 any structural anomaly of the membranous folds of the heart that prevent reflux of fluid MESH:A07.541.510 PMID:7926784 any structural anomaly of the valve that is located between the left atrium and the left ventricle of the heart, and contains two cusps, the anterior cusp and the posterior cusp, attached to the outer fibrous ring (annulus) Fyler:1508 abnormal bicuspid valve morphology abnormal left AV valve morphology abnormal left atrioventricular valve morphology abnormal mitral valvar morphology mitral valve dysplasia MPheno.ontology MP:0000286 abnormal mitral valve morphology MP:0000286 any structural anomaly of the valve that is located between the left atrium and the left ventricle of the heart, and contains two cusps, the anterior cusp and the posterior cusp, attached to the outer fibrous ring (annulus) ISBN:0-683-40008-8 MESH:A07.541.510.507 PMID:9949198 decrease in the number of normal cells in normal arrangement in any of the heart valves, typically resulting in decreased size hypoplastic heart valves MPheno.ontology MP:0000287 heart valve hypoplasia MP:0000287 decrease in the number of normal cells in normal arrangement in any of the heart valves, typically resulting in decreased size PMID:9362461 any structural anomaly of the fibroserous membrane covering the heart and beginning of the great vessels pericardial abnormalities Fyler:1900 abnormal pericaridal sac morphology pericardium dysplasia MPheno.ontology MP:0000288 abnormal pericardium morphology MP:0000288 any structural anomaly of the fibroserous membrane covering the heart and beginning of the great vessels ISBN:0-683-40008-8 MGI:cml PMID:10072433 true MP:0000289 true MP:0000290 extended fibroserous membrane covering the heart and beginning of the great vessels enlarged pericardial sac increased pericardium size MPheno.ontology MP:0000291 enlarged pericardium MP:0000291 extended fibroserous membrane covering the heart and beginning of the great vessels PMID:7477375 an expansion in the volume of the sac-like structure contained by the outer parietal layer of the pericardium distended pericardial sacs MPheno.ontology MP:0000292 distended pericardium MP:0000292 an expansion in the volume of the sac-like structure contained by the outer parietal layer of the pericardium https://orcid.org/0000-0003-3691-0324 absence of the supporting bundles of muscular fibers lining the walls of the heart MP:0000294 absence of trabeculae absent trabeculae failure of myocardial trabecular formation failure of trabecular formation MPheno.ontology MP:0000293 absent myocardial trabeculae MP:0000293 absence of the supporting bundles of muscular fibers lining the walls of the heart https://orcid.org/0000-0003-3691-0324 true MP:0000294 decrease in the number of normal cells in normal arrangement in the supporting bundles of muscular fibers lining the walls of the ventricles of the heart, typically resulting in decreased size hypoplastic trabecula carnea poorly developed trabecula carnea poorly developed ventricular trabeculae MPheno.ontology MP:0000295 trabecula carnea hypoplasia MP:0000295 decrease in the number of normal cells in normal arrangement in the supporting bundles of muscular fibers lining the walls of the ventricles of the heart, typically resulting in decreased size PMID:7477375 missing supporting bundles of muscular fibers lining the walls of the ventricles of the heart absence of ventricular trabeculae absent Rathke bundles absent columnae carneae absent fleshy beams absent ventricular trabeculae MPheno.ontology MP:0000296 absent trabeculae carneae MP:0000296 missing supporting bundles of muscular fibers lining the walls of the ventricles of the heart PMID:9362461 any structural anomaly of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices and the atrioventricular septum abnormal endocardial cushion abnormal endocardial cushion morphology endocardial cushion abnormalities GO:0007505 atrioventricular cushion dysplasia MPheno.ontology MP:0000297 abnormal atrioventricular cushion morphology MP:0000297 any structural anomaly of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices and the atrioventricular septum ISBN:0-683-40008-8 absence of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal absence of endocardial cushion absent endocardial cushion MPheno.ontology MP:0000298 absent atrioventricular cushions MP:0000298 absence of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal https://orcid.org/0000-0003-3691-0324 failure of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal to fuse to form the valves between the right and left atrioventricular orifices atrioventricular cushion closure failure failure of endocardial cushion closure failure of endocardial cushion fusion failure of endocardial cushions to fuse MPheno.ontology MP:0000299 failure of atrioventricular cushion closure MP:0000299 failure of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal to fuse to form the valves between the right and left atrioventricular orifices PMID:7477375 reduced thickness of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal thin endocardial cushions MPheno.ontology MP:0000300 thin atrioventricular cushion MP:0000300 reduced thickness of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal PMID:9362461 smaller than normal mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal decreased endocardial cushion size decreased size of endocardial cushions reduced endocardial cushion size reduced size of endocardial cushions reduced atrioventricular cushion size MPheno.ontology MP:0000301 decreased atrioventricular cushion size MP:0000301 smaller than normal mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal ISBN:0-683-40008-8 PMID:7477377 true MP:0000302 true MP:0000303 anomaly in the volume of blood pushed into the aorta with each beat of the heart MP:0001628 MPheno.ontology MP:0000304 abnormal cardiac stroke volume MP:0000304 anomaly in the volume of blood pushed into the aorta with each beat of the heart MESH:E01.370.370.380.150.700 MGI:cwg true MP:0000305 OBSOLETE. MP:0004085 MP:0001630 MPheno.ontology MP:0000306 obsolete abnormal pulse true MP:0000306 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MP:0001631 MPheno.ontology MP:0000307 obsolete abnormal heart sounds true MP:0000307 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0000308 true MP:0000309 true MP:0000310 true MP:0000311 true MP:0000312 any anomaly in the cessation of function at the cellular level MP:0001647 abnormal cell viability abnormal cellular death MPheno.ontology MP:0000313 abnormal cell death MP:0000313 any anomaly in the cessation of function at the cellular level ISBN:0-683-40008-8 the appearance of poikilocytes in the blood that owe their abnormal shape to fragmentation occurring as the cells flow through damaged small vessels fragmented erythrocytes schizocytosis MPheno.ontology fragmented red blood cells MP:0000314 schistocytosis MP:0000314 the appearance of poikilocytes in the blood that owe their abnormal shape to fragmentation occurring as the cells flow through damaged small vessels PMID:12594949 https://orcid.org/0000-0002-6490-7723 the presence of hemoglobin in the urine, including certain closely related pigments that are formed from slight alteration of the hemoglobin molecule haemoglobinuria increased urine haemoglobin level increased urine hemoglobin level MPheno.ontology MP:0000315 hemoglobinuria MP:0000315 the presence of hemoglobin in the urine, including certain closely related pigments that are formed from slight alteration of the hemoglobin molecule PMID:12594949 https://orcid.org/0000-0002-6490-7723 pathologic death of cells, usually from irreversible damage necrotic cell necrotic cells MPheno.ontology MP:0000316 cellular necrosis MP:0000316 pathologic death of cells, usually from irreversible damage ISBN:0-683-40008-8 OBSOLETE. any anomaly in the numbers of cells MPheno.ontology MP:0000317 obsolete abnormal cell number true MP:0000317 OBSOLETE. any anomaly in the numbers of cells MGI:cwg OBSOLETE. greater than expected number of cells MPheno.ontology MP:0000318 obsolete increased cell number true MP:0000318 OBSOLETE. greater than expected number of cells MGI:cwg OBSOLETE. increased activated B-cell number MPheno.ontology MP:0000319 obsolete increased activated B cell number true MP:0000319 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0000320 increased number of cells that make up the core cavities of bones when compared to the normal state MP:0000173 bone marrow hypercellularity hypercellular bone marrow increased bone marrow cellularity bone marrow hyperplasia hyperplastic bone marrow MPheno.ontology MP:0000321 increased bone marrow cell number MP:0000321 increased number of cells that make up the core cavities of bones when compared to the normal state MGI:tc greater than expected number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils MP:0000719 granulocytosis MPheno.ontology MP:0000322 increased granulocyte number MP:0000322 greater than expected number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils MGI:cwg true MP:0000323 greater than expected number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation mastocytosis MPheno.ontology MP:0000324 increased mast cell number MP:0000324 greater than expected number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation MESH:A.11.329.427 true MP:0000325 true MP:0000326 the presence of hemosiderin in the urine; hemosiderin is an intracellular storage form of iron, found in the form of pigmented yellow to brown granules consisting of a complex of ferric hydroxides, polysaccharides, and proteins with an iron content of about 33 per cent by weight MPheno.ontology MP:0000327 hemosiderinuria MP:0000327 the presence of hemosiderin in the urine; hemosiderin is an intracellular storage form of iron, found in the form of pigmented yellow to brown granules consisting of a complex of ferric hydroxides, polysaccharides, and proteins with an iron content of about 33 per cent by weight PMID:12594949 https://orcid.org/0000-0002-6490-7723 greater than expected number of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen increased intestinal cell number increased enterocyte number MPheno.ontology MP:0000328 increased enterocyte cell number MP:0000328 greater than expected number of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen CL:0000584 OBSOLETE. fewer than expected number of cells reduced cell number MPheno.ontology MP:0000329 obsolete decreased cell number true MP:0000329 OBSOLETE. fewer than expected number of cells MGI:cwg OBSOLETE. decreased activated B lymphocyte number decreased activated B-cell number MPheno.ontology MP:0000330 obsolete decreased activated B cell number true MP:0000330 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0000331 the presence of free hemoglobin in the blood plasma, an indication of significant intravascular hemolysis haemoglobinaemia haemoglobinemia MPheno.ontology MP:0000332 hemoglobinemia MP:0000332 the presence of free hemoglobin in the blood plasma, an indication of significant intravascular hemolysis PMID:12594949 https://orcid.org/0000-0002-6490-7723 decreased number of cells that make up the core cavities of bones when compared to the normal state MP:0000174 bone marrow hypocellularity decreased bone marrow cellularity hypocellular bone marrow reduced bone marrow cell number reduced bone marrow cellularity bone marrow hypoplasia hypoplastic bone marrow MPheno.ontology MP:0000333 decreased bone marrow cell number MP:0000333 decreased number of cells that make up the core cavities of bones when compared to the normal state MGI:tc PMID:10716451 fewer than expected number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils MP:0000723 reduced granulocyte number agranulocytosis granulocytopenia MPheno.ontology MP:0000334 decreased granulocyte number MP:0000334 fewer than expected number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils MGI:cwg true MP:0000335 fewer than expected number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation reduced mast cell number MPheno.ontology MP:0000336 decreased mast cell number MP:0000336 fewer than expected number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation MESH:A.11.329.427 true MP:0000337 true MP:0000338 fewer than expected number of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen decreased intestinal cell number reduced intestinal cell number reduced enterocyte number MPheno.ontology MP:0000339 decreased enterocyte cell number MP:0000339 fewer than expected number of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen CL:0000584 OBSOLETE. loss of cell MPheno.ontology MP:0000340 obsolete absence of cell true MP:0000340 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any change in the color of the bile from the normal yellowish brown or green abnormal bile colour MPheno.ontology MP:0000341 abnormal bile color MP:0000341 any change in the color of the bile from the normal yellowish brown or green ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0000342 change in the physiological response to necrosis of the cardiac tissue, often resulting from the sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors altered response to cardiac infarction MPheno.ontology MP:0000343 abnormal response to cardiac infarction MP:0000343 change in the physiological response to necrosis of the cardiac tissue, often resulting from the sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors ISBN:0-683-40008-8 MESH:C14.280.647.500 the absence of a distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus MP:0000793 MP:0000817 loss of Cajal-Retzius cell absence of Cajal-Retzius cell MPheno.ontology MP:0000344 absent Cajal-Retzius cell MP:0000344 the absence of a distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus MGI:tc PMID:10716451 true MP:0000345 a greater ear- to -ear distance resulting in the appearance of a wide face and a flattened snout MPheno.ontology MP:0000346 broad head MP:0000346 a greater ear- to -ear distance resulting in the appearance of a wide face and a flattened snout https://orcid.org/0000-0003-3691-0324 true MP:0000347 any change in the metabolism resulting in an altered ability to do physical work; for example, alterations in running capacity MPheno.ontology MP:0000348 abnormal aerobic fitness MP:0000348 any change in the metabolism resulting in an altered ability to do physical work; for example, alterations in running capacity RGD:cur https://orcid.org/0000-0003-3691-0324 true MP:0000349 anomaly in the ability of a cell population to undergo expansion by cell division MPheno.ontology MP:0000350 abnormal cell proliferation MP:0000350 anomaly in the ability of a cell population to undergo expansion by cell division ISBN:0-683-40008-8 increase in the expansion rate of a cell population by cell division MPheno.ontology MP:0000351 increased cell proliferation MP:0000351 increase in the expansion rate of a cell population by cell division https://orcid.org/0000-0003-3691-0324 reduction in the expansion rate of a cell population by cell division reduced cell proliferation MPheno.ontology MP:0000352 decreased cell proliferation MP:0000352 reduction in the expansion rate of a cell population by cell division https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0000353 obsolete Abnormal Cell Size true MP:0000353 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0000354 obsolete Increased Cell Size true MP:0000354 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0000355 obsolete Increased Purkinje Cell Size true MP:0000355 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0000356 obsolete Decreased Cell Size true MP:0000356 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0000357 obsolete Decreased Purkinje Cell Size true MP:0000357 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms MP:0000311 MP:0000312 abnormal cell cell abnormalities cellular abnormalities abnormal cell content or morphology abnormal cell content MPheno.ontology MP:0000358 abnormal cell morphology MP:0000358 any structural anomaly of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms MESH:A11 MGI:cwg any structural anomaly of a cell that is found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation MPheno.ontology MP:0000359 abnormal mast cell morphology MP:0000359 any structural anomaly of a cell that is found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation ISBN:068340007X MESH:A.11.329.427 OBSOLETE. lack of intracellular storage compartments that stain a different color than that of the dye used MPheno.ontology MP:0000360 obsolete absent metachromatic granules true MP:0000360 OBSOLETE. lack of intracellular storage compartments that stain a different color than that of the dye used ISBN:0-683-40008-8 MGI:cwg reduced amounts of proteolytic enzymes stored in mast cells reduced mast cell protease storage reduced storage of mast-cell proteases MPheno.ontology MP:0000361 decreased mast cell protease storage MP:0000361 reduced amounts of proteolytic enzymes stored in mast cells MGI:cwg reduced amounts of histamine stored in mast cells decreased histamine storage reduced histamine storage reduced storage of histamine reduced mast cell histamine storage MPheno.ontology MP:0000362 decreased mast cell histamine storage MP:0000362 reduced amounts of histamine stored in mast cells MGI:cwg OBSOLETE. MPheno.ontology MP:0000363 obsolete Abnormal Cell Behavior true MP:0000363 OBSOLETE. https://orcid.org/0000-0003-3691-0324 premature regression or persistence of vessels programmed to regress and/or loss of vessels not programmed to regress abnormal apoptosis involved in patterning of blood vessels MPheno.ontology MP:0000364 abnormal vascular regression MP:0000364 premature regression or persistence of vessels programmed to regress and/or loss of vessels not programmed to regress https://orcid.org/0000-0003-4606-0597 OBSOLETE. MPheno.ontology MP:0000365 obsolete Abnormal Hematopoietic/Hemopoietic/ Hematogenic/Hemogenic/Sanguifacient Cell Behavior true MP:0000365 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0000366 obsolete Impaired Proliferative Response of Hematopoietic Cells to Mitogens true MP:0000366 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any anomaly in the color, structure, growth, or texture of the hair abnormal coat/ hair coat/ hair abnormalities coat/ hair anomalies abnormal pelage morphology MPheno.ontology MP:0000367 abnormal coat/ hair morphology MP:0000367 any anomaly in the color, structure, growth, or texture of the hair https://orcid.org/0000-0003-3691-0324 true MP:0000368 true MP:0000369 the appearance of a stripe of white fur on the head MPheno.ontology MP:0000370 head blaze MP:0000370 the appearance of a stripe of white fur on the head https://orcid.org/0000-0003-3691-0324 a coat color that appears lighter in intensity or paler than normal dilute coat diluted coat colour light coat color light coat colour pale coat color pale coat colour MPheno.ontology MP:0000371 diluted coat color MP:0000371 a coat color that appears lighter in intensity or paler than normal https://orcid.org/0000-0003-3691-0324 uneven coloration of the hair MPheno.ontology MP:0000372 irregular coat pigmentation MP:0000372 uneven coloration of the hair MGI:llw2 the appearance of a round area of white fur on the belly MPheno.ontology MP:0000373 belly spot MP:0000373 the appearance of a round area of white fur on the belly https://orcid.org/0000-0003-3691-0324 OBSOLETE. hairs have a prominent pink tinge MPheno.ontology MP:0000374 obsolete pink fur hue true MP:0000374 OBSOLETE. hairs have a prominent pink tinge PMID:10769039 true MP:0000375 inflammatory reaction in hair follicles MPheno.ontology MP:0000376 folliculitis MP:0000376 inflammatory reaction in hair follicles ISBN:0-683-40008-8 PMID:8941642 any structural anomaly of the invagination of the epidermis from which the hair shaft develops MP:0000375 abnormal hair follicles hair follicles abnormalities abnormal hair follicle structure hair follicle structure abnormalities hair follicle dysplasia MPheno.ontology MP:0000377 abnormal hair follicle morphology MP:0000377 any structural anomaly of the invagination of the epidermis from which the hair shaft develops MESH:A10.272.497.500 missing epidermal invaginations from which the hair shaft develops MPheno.ontology MP:0000378 absent hair follicles MP:0000378 missing epidermal invaginations from which the hair shaft develops MESH:A10.272.497.500 fewer number of the epidermal invaginations from which the hair shaft develops reduced hair follicle number MPheno.ontology MP:0000379 decreased hair follicle number MP:0000379 fewer number of the epidermal invaginations from which the hair shaft develops MESH:A10.272.497.500 reduced size of the invagination of the epidermis from which the hair shaft develops MPheno.ontology MP:0000380 small hair follicles MP:0000380 reduced size of the invagination of the epidermis from which the hair shaft develops MESH:A10.272.497.500 PMID:10469309 increased size of the epidermal invaginations from which the hair shaft develops MPheno.ontology MP:0000381 enlarged hair follicles MP:0000381 increased size of the epidermal invaginations from which the hair shaft develops MESH:A10.272.497.500 arrest of or retarded differentiation of the epidermal invaginations from which the hair shaft develops MPheno.ontology MP:0000382 underdeveloped hair follicles MP:0000382 arrest of or retarded differentiation of the epidermal invaginations from which the hair shaft develops ISBN:0-683-40008-8 MESH:A10.272.497.500 misaligned hair follicles; hair follicles that do not orient in a typical pattern MPheno.ontology MP:0000383 abnormal hair follicle orientation MP:0000383 misaligned hair follicles; hair follicles that do not orient in a typical pattern PMID:9573048 twisted or contorted configuration of the arrangement of hair follicles in the skin MPheno.ontology MP:0000384 distorted hair follicle pattern MP:0000384 twisted or contorted configuration of the arrangement of hair follicles in the skin PMID:10469309 OBSOLETE. follicles that have swollen or expanded from the skin MP:0010699 MPheno.ontology MP:0000385 obsolete distended hair follicles true MP:0000385 OBSOLETE. follicles that have swollen or expanded from the skin J:53379 OBSOLETE. anomalies of the epidermal-derived layer surrounding the hair follicle; innermost of two layers MP:0010684 MP:0010685 hair follicle root sheath abnormalities MPheno.ontology MP:0000386 Obsolete. Use either abnormal hair follicle outer root sheath morphology (MP:0010684) or abnormal hair follicle inner root sheath morphology (MP:0010685). obsolete abnormal hair follicle root sheath true MP:0000386 OBSOLETE. anomalies of the epidermal-derived layer surrounding the hair follicle; innermost of two layers MGI:cwg disorganization of the epithelial cells that resides in the inner root sheath of the hair follicle disorganised inner root sheath cells MPheno.ontology MP:0000387 disorganized inner root sheath cells MP:0000387 disorganization of the epithelial cells that resides in the inner root sheath of the hair follicle CL:0002560 absence of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer and the inner root sheath cuticle MPheno.ontology absent inner root sheath MP:0000388 absent hair follicle inner root sheath MP:0000388 absence of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer and the inner root sheath cuticle PMID:19211055 disordered enveloping layer of cells of the hair follicle; surrounds inner root and is continuous with basal and spinous layers of the epidermis disorganised outer root sheath cells MPheno.ontology MP:0000389 disorganized outer root sheath cells MP:0000389 disordered enveloping layer of cells of the hair follicle; surrounds inner root and is continuous with basal and spinous layers of the epidermis PMID:10469309 disordered layer of matrix cells of the hair follicle disorganised matrix sheath cells MPheno.ontology MP:0000390 disorganized matrix sheath cells MP:0000390 disordered layer of matrix cells of the hair follicle PMID:10469309 early onset of hair follicle development MPheno.ontology MP:0000391 premature hair follicle generation MP:0000391 early onset of hair follicle development PMID:9135074 earlier onset of catagen phase during the cyclic transformation of the hair follicle MPheno.ontology MP:0000392 accelerated hair follicle regression MP:0000392 earlier onset of catagen phase during the cyclic transformation of the hair follicle ISBN:0-8493-8372-2 MGI:llw2 continuous induction of de novo hair follicles in the epidermis MPheno.ontology MP:0000393 persistent hair follicle morphogenesis MP:0000393 continuous induction of de novo hair follicles in the epidermis J:51296 absence of the pigment polymers located in the hair follicles absence of melanin granules in hair follicle absent melanin granules in hair follicle MPheno.ontology MP:0000394 absent hair follicle melanin granules MP:0000394 absence of the pigment polymers located in the hair follicles MGI:llw2 OBSOLETE. any structural anomaly of the different subsets of types of hairs or change to the expected complement of different hair types MP:0000367 MP:0000397 MP:0000400 MP:0000402 MP:0000405 MPheno.ontology MP:0000395 obsolete abnormal hair types true MP:0000395 OBSOLETE. any structural anomaly of the different subsets of types of hairs or change to the expected complement of different hair types PMID:9573048 greater bending arch of the distinct C- or S- shaped curvature of the hairs MPheno.ontology MP:0000396 increased curvature of hairs MP:0000396 greater bending arch of the distinct C- or S- shaped curvature of the hairs J:4606 any structural anomaly of the long, straight truncal hairs that contain two air cells in the medulla abnormal monotrich hair morphology MPheno.ontology MP:0000397 abnormal guard hair morphology MP:0000397 any structural anomaly of the long, straight truncal hairs that contain two air cells in the medulla ISBN:0-8493-8372-2 intercellular splits and kinks within or along the hair shaft of the long, straight truncal hairs that contain two air cells in the medulla splitting of monotrich hair MPheno.ontology MP:0000398 splitting of guard hairs MP:0000398 intercellular splits and kinks within or along the hair shaft of the long, straight truncal hairs that contain two air cells in the medulla ISBN:0-8493-8372-2 PMID:9808631 greater bending arch of the guard hairs increased curvature of monotrich hair MPheno.ontology MP:0000399 increased curvature of guard hairs MP:0000399 greater bending arch of the guard hairs PMID:9573048 any structural anomaly of truncal hairs that are straight, but are shorter than guard hairs, and contain two or more air cells in the medulla MPheno.ontology MP:0000400 abnormal awl hair morphology MP:0000400 any structural anomaly of truncal hairs that are straight, but are shorter than guard hairs, and contain two or more air cells in the medulla ISBN:0-8493-8372-2 greater bending arch of the awl hairs MPheno.ontology MP:0000401 increased curvature of awl hairs MP:0000401 greater bending arch of the awl hairs PMID:9573048 any structural anomaly or amount of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla MPheno.ontology MP:0000402 abnormal zigzag hair morphology MP:0000402 any structural anomaly or amount of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla ISBN:0-8493-8372-2 greater bending arch of the zigzag hairs MPheno.ontology MP:0000403 increased curvature of zigzag hairs MP:0000403 greater bending arch of the zigzag hairs PMID:9573048 smaller bending arch of the zigzag hairs reduced curvature of zigzag hairs MPheno.ontology MP:0000404 decreased curvature of zigzag hairs MP:0000404 smaller bending arch of the zigzag hairs PMID:10804183 any structural anomaly of truncal hairs having a single constriction and bend about midway along the hair shaft, and contain two or more air cells in the medulla MPheno.ontology MP:0000405 abnormal auchene hair morphology MP:0000405 any structural anomaly of truncal hairs having a single constriction and bend about midway along the hair shaft, and contain two or more air cells in the medulla ISBN:0-8493-8372-2 https://orcid.org/0000-0003-3691-0324 greater bending arch of the auchene hairs MPheno.ontology MP:0000406 increased curvature of auchene hairs MP:0000406 greater bending arch of the auchene hairs PMID:9573048 any structural anomaly of the fine under hair of the coat MPheno.ontology MP:0000407 abnormal duvet hair morphology MP:0000407 any structural anomaly of the fine under hair of the coat MGI:cwg absence of the of the fine under hair of the coat absence of duvet hair MPheno.ontology MP:0000408 absent duvet hair MP:0000408 absence of the of the fine under hair of the coat MGI:cwg true MP:0000409 hair or fur having undulations or a sinusoidal shape wavy hair curly hair waved fur MPheno.ontology MP:0000410 waved hair MP:0000410 hair or fur having undulations or a sinusoidal shape PMID:9573048 fur with a glossy or glistening appearance MPheno.ontology MP:0000411 shiny fur MP:0000411 fur with a glossy or glistening appearance J:45065 greater amount of body hair compared to controls hypertrichosis MPheno.ontology MP:0000412 excessive hair MP:0000412 greater amount of body hair compared to controls https://orcid.org/0000-0003-3691-0324 increased number of phalanges in any of the digits MPheno.ontology MP:0000413 polyphalangy MP:0000413 increased number of phalanges in any of the digits J:13069 https://orcid.org/0000-0003-3691-0324 absence of hair due to loss of hair; not in reference to primary genetic hairlessness but may be due to dietary, stress or secondary to immune condition absence of hair absence of hair shaft absent hair shaft no hair shaft baldness hair loss loss of hair MPheno.ontology hairless MP:0000414 alopecia MP:0000414 absence of hair due to loss of hair; not in reference to primary genetic hairlessness but may be due to dietary, stress or secondary to immune condition ISBN:0-683-40008-8 true MP:0000415 body hair that is less dense; may be due to reduced follicle numbers or due to the inability to retain some of the hairs of the coat over time MP:0000415 hypotrichosis sparse fur thin coat MPheno.ontology partial hair loss thin hair MP:0000416 sparse hair MP:0000416 body hair that is less dense; may be due to reduced follicle numbers or due to the inability to retain some of the hairs of the coat over time https://orcid.org/0000-0003-3691-0324 reduced average length of the hairs decreased hair length MPheno.ontology MP:0000417 short hair MP:0000417 reduced average length of the hairs J:64948 focal absence of hair in areas where hair is normally expected; in rodents, often appearing behind the ears and on the tail, resulting in visible patches of skin and uneven spots of hair growth on the body MP:0006368 patchy fur patchy hair MPheno.ontology localized bare skin localized hair loss MP:0000418 focal hair loss MP:0000418 focal absence of hair in areas where hair is normally expected; in rodents, often appearing behind the ears and on the tail, resulting in visible patches of skin and uneven spots of hair growth on the body ISBN:0-8493-8372-2 OBSOLETE. greasy, matted appearance of the fur MPheno.ontology MP:0000419 obsolete rough hair true MP:0000419 OBSOLETE. greasy, matted appearance of the fur https://orcid.org/0000-0003-3691-0324 fuzzy, irregular appearance of the hair MPheno.ontology MP:0000420 ruffled hair MP:0000420 fuzzy, irregular appearance of the hair J:50844 coat has spots, streaks, and/or blotches of a different color mottled fur MPheno.ontology MP:0000421 mottled coat MP:0000421 coat has spots, streaks, and/or blotches of a different color J:17194 late onset of the first appearance of the fur delayed hair growth MPheno.ontology MP:0000422 delayed hair appearance MP:0000422 late onset of the first appearance of the fur J:17792 slow initiation and asynchrony of the hair growth cycle (anagen) after catagen phase MPheno.ontology MP:0000423 delayed hair regrowth MP:0000423 slow initiation and asynchrony of the hair growth cycle (anagen) after catagen phase PMID:10742104 slow growth of the hair, appears at normal time MPheno.ontology MP:0000424 retarded hair growth MP:0000424 slow growth of the hair, appears at normal time J:5476 inability to retain the eyelashes loss of cilia ciliary madarosis loss of eyelashes madarosis milphosis MPheno.ontology MP:0000425 loss of eyelid cilia MP:0000425 inability to retain the eyelashes PMID:9420327 positional abnormality of hair heterotopic hair growth MPheno.ontology MP:0000426 ectopic hair growth MP:0000426 positional abnormality of hair J:24350 aberrant timing of growth and regression of the hair follicles MPheno.ontology MP:0000427 abnormal hair cycle MP:0000427 aberrant timing of growth and regression of the hair follicles MGI:llw2 https://orcid.org/0000-0002-8404-2907 any structural anomaly of the face or head affecting appearance craniofacial abnormalities craniofacial defects craniofacial dysplasia MPheno.ontology MP:0000428 abnormal craniofacial morphology MP:0000428 any structural anomaly of the face or head affecting appearance ISBN:0-683-40008-8 true MP:0000429 missing bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate MP:0000112 absent maxillary palatal process absent palatal process of maxilla absent palatine process MPheno.ontology MP:0000430 absent maxillary shelf MP:0000430 missing bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate ISBN:0-683-40008-8 PMID:7914451 https://orcid.org/0000-0003-3691-0324 missing bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate MP:0000113 absent horizontal plate absent palatal process of palatine bone absent palatine palatal process absent palatine shelf MPheno.ontology MP:0000431 absent palatine bone horizontal plate MP:0000431 missing bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate ISBN:0-683-40008-8 PMID:7914451 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the portion of the body containing the brain and organs of sight, hearing, taste, and smell head abnormalities MPheno.ontology MP:0000432 abnormal head morphology MP:0000432 any structural anomaly of the portion of the body containing the brain and organs of sight, hearing, taste, and smell ISBN:0-683-40008-8 an abnormally small head Fyler:4310 decreased head size reduced head size small head MPheno.ontology MP:0000433 microcephaly MP:0000433 an abnormally small head ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 an abnormally large size of the head MP:0001266 Fyler:4335 big head enlarged head increased head size large head macrocephaly MPheno.ontology MP:0000434 megacephaly MP:0000434 an abnormally large size of the head ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 reduced anterior-posterior length of the head MPheno.ontology brachycephaly MP:0000435 shortened head MP:0000435 reduced anterior-posterior length of the head PMID:9256350 any anomaly in the motion of the portion of the body containing the brain and organs of sight, hearing, taste, and smell MP:0001390 abnormal head movement MPheno.ontology MP:0000436 abnormal head movements MP:0000436 any anomaly in the motion of the portion of the body containing the brain and organs of sight, hearing, taste, and smell ISBN:0-683-40008-8 skin of face has appearance of being drawn or pulled tightly MPheno.ontology MP:0000437 taut facial appearance MP:0000437 skin of face has appearance of being drawn or pulled tightly PMID:10769039 any structural anomaly of the bones of the head abnormal cranium cranial abnormalities skull anomaly, congenital Fyler:4134 MA:0000316 cranium dysplasia MPheno.ontology abnormal skull abnormal skull morphology skull abnormalities skull anomaly MP:0000438 abnormal cranium morphology MP:0000438 any structural anomaly of the bones of the head ISBN:0-683-40008-8 increased size of the cranium increased cranium size MPheno.ontology enlarged skull increased skull size MP:0000439 enlarged cranium MP:0000439 increased size of the cranium https://orcid.org/0000-0003-3691-0324 increased curvature to the hemispherical shape of the upper cranial case dome-shaped skull MPheno.ontology domed skull MP:0000440 domed cranium MP:0000440 increased curvature to the hemispherical shape of the upper cranial case https://orcid.org/0000-0003-3691-0324 having an increased side-to-side, or lateral distance of the cranium increased skull width wide skull MPheno.ontology MP:0000441 increased cranium width MP:0000441 having an increased side-to-side, or lateral distance of the cranium https://orcid.org/0000-0003-3691-0324 true MP:0000442 any structural anomaly of the anterior facial part of the face or muzzle containing the oral and nasal regions MP:0000444 abnormal muzzle morphology abnormal snout snout abnormalities snout dysplasia abnormal nose shape abnormal snout shape snout shape abnormalities MPheno.ontology MP:0000443 The term muzzle has multiple meanings and can be ambiguous. It has been added as a broad synonym, and in this case, refers both to the protruding part of the face seen in many animal species. abnormal snout morphology MP:0000443 any structural anomaly of the anterior facial part of the face or muzzle containing the oral and nasal regions https://orcid.org/0000-0003-3691-0324 true MP:0000444 reduced length of the anterior facial part of the muzzle decreased snout length short nasal dorsum short nasal ridge short nose short nose ridge MPheno.ontology MP:0000445 short snout MP:0000445 reduced length of the anterior facial part of the muzzle PMID:9949198 the anterior facial part of the muzzle having a length greater than seen in controls increased snout length long nose MPheno.ontology MP:0000446 long snout MP:0000446 the anterior facial part of the muzzle having a length greater than seen in controls MGI:cwg a snout flattened laterally along the whole length without the appearance of distinctive curvature MPheno.ontology MP:0000447 flattened snout MP:0000447 a snout flattened laterally along the whole length without the appearance of distinctive curvature https://orcid.org/0000-0003-3691-0324 muzzle tapers to a small tip, sharper angle than wild type MPheno.ontology MP:0000448 pointed snout MP:0000448 muzzle tapers to a small tip, sharper angle than wild type PMID:7958926 wider than normal upper part of the ridge of the nose broadened nasal bridge wide nasal bridge widened nasal bridge MPheno.ontology MP:0000449 broad nasal bridge MP:0000449 wider than normal upper part of the ridge of the nose PMID:9949198 absence of the anterior facial part of the face or muzzle containing the oral and nasal regions absence of snout absent nose MPheno.ontology MP:0000450 absent snout MP:0000450 absence of the anterior facial part of the face or muzzle containing the oral and nasal regions https://orcid.org/0000-0003-3691-0324 loss of the outer layer of the epidermis of the muzzle in thick, dry scale-like patches scaly snout MPheno.ontology MP:0000451 scaly muzzle MP:0000451 loss of the outer layer of the epidermis of the muzzle in thick, dry scale-like patches PMID:10419685 any structural anomaly of the proximal portion of the digestive tract containing the oral cavity and bounded by the oral opening mouth abnormalities Fyler:4874 mouth malformation mouth dysplasia MPheno.ontology MP:0000452 In vertebrates, the mouth extends to the pharynx and includes gums, lips, tongue and parts of the palate. Typically also includes the teeth, except where these protrude from the mouth (tusks). abnormal mouth morphology MP:0000452 any structural anomaly of the proximal portion of the digestive tract containing the oral cavity and bounded by the oral opening UBERON:0000165 In vertebrates, the mouth extends to the pharynx and includes gums, lips, tongue and parts of the palate. Typically also includes the teeth, except where these protrude from the mouth (tusks). UBERON:0000165 congenital absence of the mouth absence of mouth astomia MPheno.ontology MP:0000453 absent mouth MP:0000453 congenital absence of the mouth PMID:8837770 any structural anomaly of the bony framework of the mouth where the teeth are held jaw abnormalities jaw dysplasia MPheno.ontology MP:0000454 abnormal jaw morphology MP:0000454 any structural anomaly of the bony framework of the mouth where the teeth are held ISBN:0-683-40008-8 any structural anomaly of the upper bony framework of the mouth where the superior teeth are held MP:0000089 abnormal upper jaw morphology maxilla dysplasia MPheno.ontology MP:0000455 abnormal maxilla morphology MP:0000455 any structural anomaly of the upper bony framework of the mouth where the superior teeth are held ISBN:0-683-40008-8 true MP:0000456 decrease in the number of normal cells in normal arrangement in the maxilla, typically resulting in decreased size MP:0000092 hypoplasia of maxilla hypoplasia of upper jaw hypoplastic maxilla hypoplastic upper jaw MPheno.ontology MP:0000457 maxilla hypoplasia MP:0000457 decrease in the number of normal cells in normal arrangement in the maxilla, typically resulting in decreased size ISBN:0-683-40008-8 MGI:tc PMID:10227294 any structural anomaly of the lower bony framework of the mouth where the inferior teeth are held MP:0000086 abnormal lower jaw morphology mandible dysplasia MPheno.ontology MP:0000458 abnormal mandible morphology MP:0000458 any structural anomaly of the lower bony framework of the mouth where the inferior teeth are held ISBN:0-683-40008-8 any structural anomaly of the vertebrae anterior to the sacrum MPheno.ontology MP:0000459 abnormal presacral vertebrae morphology MP:0000459 any structural anomaly of the vertebrae anterior to the sacrum https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the mandible, typically resulting in decreased size hypognathia hypoplasia of lower jaw hypoplasia of mandible hypoplastic lower jaw hypoplastic mandible mandibular hypoplasia MPheno.ontology MP:0000460 mandible hypoplasia MP:0000460 decrease in the number of normal cells in normal arrangement in the mandible, typically resulting in decreased size ISBN:0-683-40008-8 MGI:tc PMID:10227294 reduced number of the vertebrae anterior to the sacrum decreased number of presacral vertebrae reduced number of presacral vertebrae reduced presacral vertebrae number MPheno.ontology MP:0000461 decreased presacral vertebrae number MP:0000461 reduced number of the vertebrae anterior to the sacrum https://orcid.org/0000-0003-3691-0324 any structural anomaly of the system dedicated to the mechanical, chemical, and enzymatic processing of food MP:0000463 MP:0002141 digestive system abnormalities digestive system defects MGI:2173601 digestive system: dysmorphology digestive system dysplasia MPheno.ontology MP:0000462 abnormal digestive system morphology MP:0000462 any structural anomaly of the system dedicated to the mechanical, chemical, and enzymatic processing of food ISBN:0-683-40008-8 MGI:cwg true MP:0000463 greater number of the vertebrae anterior to the sacrum increased number of presacral vertebrae MPheno.ontology MP:0000464 increased presacral vertebrae number MP:0000464 greater number of the vertebrae anterior to the sacrum https://orcid.org/0000-0003-3691-0324 bleeding in the stomach and/or the intestines gastroenteric bleeding gastroenteric haemorrhage gastroenteric hemorrhage gastrointestinal bleeding gastrointestinal haemorrhage MPheno.ontology MP:0000465 gastrointestinal hemorrhage MP:0000465 bleeding in the stomach and/or the intestines ISBN:0-683-40008-8 MGI:tc PMID:10716451 increase in the number of normal cells in normal arrangement in the esophageal epithelium, typically resulting in increased size hyperplasia of the esophageal epithelium hyperplasia of the oesophageal epithelium hyperplastic esophageal epithelium oesophageal epithelium hyperplasia MPheno.ontology MP:0000466 esophageal epithelium hyperplasia MP:0000466 increase in the number of normal cells in normal arrangement in the esophageal epithelium, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 any structural anomaly of the part of the digestive canal through which food passes from the pharynx to the stomach esophagus abnormalities oesophagus abnormalities abnormal oesophagus morphology esophageal dysplasia esophagus dysplasia oesophageal dysplasia oesophagus dysplasia MPheno.ontology MP:0000467 abnormal esophagus morphology MP:0000467 any structural anomaly of the part of the digestive canal through which food passes from the pharynx to the stomach ISBN:0-683-40008-8 MGI:tc any structural anomaly of the epithelial layer that lines the luminal space of the esophagus esophageal epithelium abnormalities oesophageal epithelium abnormalities abnormal oesophageal epithelium morphology abnormal esophageal epithelium dysplasia abnormal oesophageal epithelium dysplasia MPheno.ontology MP:0000468 abnormal esophageal epithelium morphology MP:0000468 any structural anomaly of the epithelial layer that lines the luminal space of the esophagus ISBN:0-683-40008-8 any structural anomaly of the scaly epithelial layer of the esophagus abnormal oesophageal squamous epithelium morphology esophageal squamous epithelium dysplasia oesophageal squamous epithelium dysplasia MPheno.ontology MP:0000469 abnormal esophageal squamous epithelium morphology MP:0000469 any structural anomaly of the scaly epithelial layer of the esophagus ISBN:0-683-40008-8 MGI:tc PMID:10227294 any structural anomaly of the hollow, sac-like structure of the digestive canal between the esophagus and the small intestine that functions to emulsify food gastric abnormalities stomach abnormalities abnormal gastric morphology gastric dysplasia stomach dysplasia MPheno.ontology MP:0000470 abnormal stomach morphology MP:0000470 any structural anomaly of the hollow, sac-like structure of the digestive canal between the esophagus and the small intestine that functions to emulsify food ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the epithelial layer of the stomach stomach epithelium abnormalities stomach epithelium dysplasia MPheno.ontology MP:0000471 abnormal stomach epithelium morphology MP:0000471 any structural anomaly of the epithelial layer of the stomach MGI:tc any structural anomaly of the squamous epithelium that lines the distinct rodent non-glandular region of the stomach, i.e. the forestomach (aka anterior or proximal stomach); in neonatal and adult mice, this epithelium is stratified, fully keratinized, and devoid of gastric glands abnormal stomach squamous epithelium morphology stomach squamous epithelium dysplasia MPheno.ontology MP:0000472 abnormal stomach non-glandular epithelium morphology MP:0000472 any structural anomaly of the squamous epithelium that lines the distinct rodent non-glandular region of the stomach, i.e. the forestomach (aka anterior or proximal stomach); in neonatal and adult mice, this epithelium is stratified, fully keratinized, and devoid of gastric glands ISBN:0-683-40008-8 PMID:22750256 any structural anomaly of the gland-containing epithelial layer of the stomach stomach glandular epithelium dysplasia MPheno.ontology MP:0000473 abnormal stomach glandular epithelium morphology MP:0000473 any structural anomaly of the gland-containing epithelial layer of the stomach ISBN:0-683-40008-8 MGI:tc PMID:10227294 any structural anomaly of the anterior portion of the primitive digestive tube of the embryo that lies cephalic to the junction of the yolk stalk, consists of endodermal tissue, and gives rise to the pharynx, lower respiratory system, esophagus, stomach, duodenum proximal to the biliary tract, liver, pancreas, biliary tract, and gall bladder foregut abnormalities foregut dysplasia MPheno.ontology MP:0000474 abnormal foregut morphology MP:0000474 any structural anomaly of the anterior portion of the primitive digestive tube of the embryo that lies cephalic to the junction of the yolk stalk, consists of endodermal tissue, and gives rise to the pharynx, lower respiratory system, esophagus, stomach, duodenum proximal to the biliary tract, liver, pancreas, biliary tract, and gall bladder https://orcid.org/0000-0002-6490-7723 true MP:0000475 OBSOLETE. MPheno.ontology MP:0000476 obsolete thickening of bowel wall true MP:0000476 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the digestive tube passing from the stomach to the anus, consisting of the small and large intestine divisions MP:0000475 intestinal abnormalities abnormal bowel morphology abnormal bowel wall morphology bowel wall abnormalities intestinal dysplasia intestine dysplasia MPheno.ontology MP:0000477 abnormal intestine morphology MP:0000477 any structural anomaly of the digestive tube passing from the stomach to the anus, consisting of the small and large intestine divisions ISBN:0-683-40008-8 slowed progression to a structurally mature intestine developmental retardation of the intestine MPheno.ontology MP:0000478 delayed intestine development MP:0000478 slowed progression to a structurally mature intestine MGI:cwg any structural anomaly of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen abnormal enterocytes abnormal intestinal cell morphology intestinal cell abnormalities abnormal intestinal epithelial cell MPheno.ontology MP:0000479 abnormal enterocyte morphology MP:0000479 any structural anomaly of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen CL:0000584 greater than normal numbers of the pairs of bony structures that are elements of the body wall increased number of ribs MPheno.ontology MP:0000480 increased rib number MP:0000480 greater than normal numbers of the pairs of bony structures that are elements of the body wall ISBN:0-683-40008-8 deviation from the normal numbers of enterocytes abnormal enterocyte number MPheno.ontology abnormal intestinal cell number MP:0000481 abnormal enterocyte cell number MP:0000481 deviation from the normal numbers of enterocytes CL:0000584 increased length of the lateral and smaller of bone of the lower leg increased fibula length MPheno.ontology MP:0000482 long fibula MP:0000482 increased length of the lateral and smaller of bone of the lower leg https://orcid.org/0000-0002-0371-1954 OBSOLETE. increased enterocyte number MPheno.ontology MP:0000483 obsolete Increased intestinal cell number true MP:0000483 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the artery that arises from the right ventricle and conveys unaerated blood to the lungs abnormal PA pulmonary arterial abnormality pulmonary artery dysplasia MPheno.ontology MP:0000484 abnormal pulmonary artery morphology MP:0000484 any structural anomaly of the artery that arises from the right ventricle and conveys unaerated blood to the lungs MESH:A07.231.114.715 MGI:hdene OBSOLETE. decreased enterocyte number MPheno.ontology MP:0000485 obsolete Decreased intestinal cell number true MP:0000485 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery pulmonary trunk (MPA) abnormality pulmonary trunk dysplasia MPheno.ontology MP:0000486 abnormal pulmonary trunk morphology MP:0000486 any structural anomaly of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery ISBN:0-683-40008-8 MGI:hdene absence of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen MP:0000347 absence of intestinal cell absent intestinal cell loss of intestinal cell absence of enterocytes loss of enterocyte MPheno.ontology MP:0000487 absent enterocytes MP:0000487 absence of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen CL:0000584 any structural anomaly of the cellular avascular layer of the digestive tube passing from the stomach to the anus intestinal epithelium abnormalities intestinal epithelium dysplasia MPheno.ontology MP:0000488 abnormal intestinal epithelium morphology MP:0000488 any structural anomaly of the cellular avascular layer of the digestive tube passing from the stomach to the anus ISBN:0-683-40008-8 MGI:cwg any structural anomaly of the portion of the digestive tube extending from the ileocecal valve to the anus, consisting of the cecum, colon, rectum and anal canal large intestine abnormalities abnormal intestinum crassum large intestine dysplasia MPheno.ontology MP:0000489 abnormal large intestine morphology MP:0000489 any structural anomaly of the portion of the digestive tube extending from the ileocecal valve to the anus, consisting of the cecum, colon, rectum and anal canal ISBN:0-683-40008-8 any structural anomaly of the tubular intestinal glands found in the mucosal membranes abnormal intestinal glands abnormal intestinal gland morphology crypts of Lieberkuhn dysplasia intestinal gland dysplasia MPheno.ontology MP:0000490 abnormal crypts of Lieberkuhn morphology MP:0000490 any structural anomaly of the tubular intestinal glands found in the mucosal membranes ISBN:0-683-40008-8 an exudate collection associated with inflammation in the crypts of Lieberkuhn of the intestinal mucosa; often associated with ulcerative colitis crypt abscesses MPheno.ontology MP:0000491 crypts of Lieberkuhn abscesses MP:0000491 an exudate collection associated with inflammation in the crypts of Lieberkuhn of the intestinal mucosa; often associated with ulcerative colitis ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the terminal portion of the intestinal tube adjacent to the anus rectum abnormalities rectum dysplasia MPheno.ontology MP:0000492 abnormal rectum morphology MP:0000492 any structural anomaly of the terminal portion of the intestinal tube adjacent to the anus ISBN:0-683-40008-8 downward movement and external appearance of the rectum through the anus MPheno.ontology MP:0000493 rectal prolapse MP:0000493 downward movement and external appearance of the rectum through the anus ISBN:0-683-40008-8 MGI:tc any structural anomaly of the large sac at the ileum and large intestine junction cecum abnormalities abnormal caecum morphology cecum dysplasia MPheno.ontology MP:0000494 abnormal cecum morphology MP:0000494 any structural anomaly of the large sac at the ileum and large intestine junction ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the portion of the large intestine between the cecum and the rectum colon abnormalities colon dysplasia MPheno.ontology MP:0000495 abnormal colon morphology MP:0000495 any structural anomaly of the portion of the large intestine between the cecum and the rectum ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum small intestine abnormalities abnormal intestinum tenue morphology small intestine dysplasia MPheno.ontology MP:0000496 abnormal small intestine morphology MP:0000496 any structural anomaly of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum ISBN:0-683-40008-8 different location or arrangement of the small intestinal tract MPheno.ontology MP:0000497 abnormal small intestine placement MP:0000497 different location or arrangement of the small intestinal tract PMID:9144284 missing portion of the small intestine that extends from the duodenum to the ileum absence of jejunum MPheno.ontology MP:0000498 absent jejunum MP:0000498 missing portion of the small intestine that extends from the duodenum to the ileum ISBN:0-683-40008-8 missing portion of the small intestine that extends from the jejunum to the colon absence of ileum MPheno.ontology MP:0000499 absent ileum MP:0000499 missing portion of the small intestine that extends from the jejunum to the colon ISBN:0-683-40008-8 the descent of the small intestine through a weakness in the supporting tissues at the apex of the vagina gives rise to an enterocele, frequently caused by a weakness or separation of the cardinal and sacro-uterine ligaments enterocele small intestine hernia MPheno.ontology MP:0000500 small intestinal prolapse MP:0000500 the descent of the small intestine through a weakness in the supporting tissues at the apex of the vagina gives rise to an enterocele, frequently caused by a weakness or separation of the cardinal and sacro-uterine ligaments ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 anomaly in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system abnormal secretion MPheno.ontology MP:0000501 abnormal digestive secretion MP:0000501 anomaly in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system ISBN:0-683-40008-8 MGI:tc OBSOLETE. malfunctioning of the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from the mucous membrane of the digestive system abnormal mucosecretion MPheno.ontology MP:0000502 obsolete abnormal digestive mucosecretion true MP:0000502 OBSOLETE. malfunctioning of the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from the mucous membrane of the digestive system ISBN:0-683-40008-8 MGI:tc increase in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system excessive secretion MPheno.ontology MP:0000503 excessive digestive secretion MP:0000503 increase in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system ISBN:0-683-40008-8 MGI:tc increase in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from the mucous membrane of the digestive system MP:0000503 MP:0000514 excessive mucosecretion MPheno.ontology MP:0000504 obsolete excessive digestive mucosecretion true MP:0000504 increase in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from the mucous membrane of the digestive system ISBN:0-683-40008-8 MGI:tc PMID:10716451 reduction in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system reduced secretion reduced digestive secretion MPheno.ontology MP:0000505 decreased digestive secretion MP:0000505 reduction in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system ISBN:0-683-40008-8 MGI:tc reduction in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from the mucous membrane of the digestive system MP:0000505 MP:0000515 reduced mucosecretion reduced digestive mucosecretion MPheno.ontology MP:0000506 obsolete decreased digestive mucosecretion true MP:0000506 reduction in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from the mucous membrane of the digestive system ISBN:0-683-40008-8 MGI:tc failure to produce and/or release a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system absence of secretion loss of secretion absence of digestive secretion MPheno.ontology MP:0000507 absent digestive secretion MP:0000507 failure to produce and/or release a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system ISBN:0-683-40008-8 MGI:tc anomaly in the asymmetry of the visceral paired organs (e.g. lungs) such that organs on the left and right side have the morphology normally seen on the right side of the body; this may also be associated with absence of the spleen MPheno.ontology MP:0000508 right-sided isomerism MP:0000508 anomaly in the asymmetry of the visceral paired organs (e.g. lungs) such that organs on the left and right side have the morphology normally seen on the right side of the body; this may also be associated with absence of the spleen https://orcid.org/0000-0003-4606-0597 failure to produce and/or release a physiologically active substance (usually but not exclusively in liquid form) from the mucous membrane of the digestive system MP:0000507 absence of mucosecretion loss of mucosecretion absence of digestive mucosecretion MPheno.ontology MP:0000509 obsolete absent digestive mucosecretion true MP:0000509 failure to produce and/or release a physiologically active substance (usually but not exclusively in liquid form) from the mucous membrane of the digestive system ISBN:0-683-40008-8 MGI:tc loss of blood from the intestines that is characterized by temporary periods of abatement remittent intestinal bleeding remittent intestinal haemorrhage MPheno.ontology MP:0000510 remittent intestinal hemorrhage MP:0000510 loss of blood from the intestines that is characterized by temporary periods of abatement ISBN:0-683-40008-8 any structural anomaly of the mucous lining of the intestine; this consists of epithelium, lamina propria, and a layer of smooth muscle cells abnormal mucosa of the intestine intestinal mucosa abnormalities intestinal mucosa dysplasia MPheno.ontology MP:0000511 abnormal intestinal mucosa morphology MP:0000511 any structural anomaly of the mucous lining of the intestine; this consists of epithelium, lamina propria, and a layer of smooth muscle cells ISBN:0-683-40008-8 lesions in the mucous lining of the intestine intestinal ulcers mucosal ulceration of the intestine MPheno.ontology MP:0000512 intestinal ulcer MP:0000512 lesions in the mucous lining of the intestine MGI:cwg OBSOLETE. lymphocyte/plasma cell infiltration MPheno.ontology MP:0000513 obsolete infiltration of lymphocytes/plasma cells true MP:0000513 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0000514 true MP:0000515 any structural anomaly of any of the organs or tissues responsible for fluid volume regulation, regulating electrolytes, maintaining acid-base homeostasis, and elimination of water and water soluble waste products in an organism MP:0000517 abnormal urinary organs excretory system defects urinary organ abnormalities urinary system dysplasia MPheno.ontology MP:0000516 abnormal renal/urinary system morphology MP:0000516 any structural anomaly of any of the organs or tissues responsible for fluid volume regulation, regulating electrolytes, maintaining acid-base homeostasis, and elimination of water and water soluble waste products in an organism https://orcid.org/0000-0003-3691-0324 true MP:0000517 true MP:0000518 dilation of the pelvis and calices of one or both kidneys Fyler:4502 hydropic kidney renal pelvic dilation MPheno.ontology MP:0000519 hydronephrosis MP:0000519 dilation of the pelvis and calices of one or both kidneys ISBN:0-683-40008-8 absence of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine absence of kidney kidney agenesis renal agenesis Fyler:4503 Agenesis of kidneys bilateral kidney agenesis bilateral renal agenesis MPheno.ontology MP:0000520 absent kidney MP:0000520 absence of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine ISBN:0-683-40008-8 any structural anomaly of the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration; it contains the renal corpuscles, the renal tubules (except for parts of the loop of Henle which descend into the renal medulla), blood vessels and cortical collecting ducts abnormal renal cortex morphology kidney cortex dysplasia MPheno.ontology MP:0000521 abnormal kidney cortex morphology MP:0000521 any structural anomaly of the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration; it contains the renal corpuscles, the renal tubules (except for parts of the loop of Henle which descend into the renal medulla), blood vessels and cortical collecting ducts ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 presence of one or more abnormal membranous sacs in the kidney cortex cystic kidney cortex cystic renal cortex cysts in kidney cortex kidney cortex cysts renal cortex cyst renal cortex cysts renal cortical cyst renal cortical cysts MPheno.ontology MP:0000522 kidney cortex cyst MP:0000522 presence of one or more abnormal membranous sacs in the kidney cortex ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any disease of the capillary plexus in the kidney cortex MPheno.ontology MP:0000523 cortical renal glomerulopathies MP:0000523 any disease of the capillary plexus in the kidney cortex ISBN:0-683-40008-8 fewer of the loops of Henle, the proximal convoluted tubules or the distal convoluted tubules reduced number of renal tubules reduced renal tubule number MPheno.ontology MP:0000524 decreased renal tubule number MP:0000524 fewer of the loops of Henle, the proximal convoluted tubules or the distal convoluted tubules PMID:9144284 a clinical syndrome characterized by the inability to acidify urine MPheno.ontology MP:0000525 renal tubular acidosis MP:0000525 a clinical syndrome characterized by the inability to acidify urine ISBN:0-683-40008-8 reduced size of pyramidal masses; contain part of the secreting tubules and collecting tubules MPheno.ontology MP:0000526 small inner medullary pyramid MP:0000526 reduced size of pyramidal masses; contain part of the secreting tubules and collecting tubules ISBN:0-683-40008-8 PMID:9144284 any anomaly in the differentiation of the paired organs responsible for urine secretion abnormal nephrogenesis abnormal renal development kidney development abnormalities MPheno.ontology MP:0000527 abnormal kidney development MP:0000527 any anomaly in the differentiation of the paired organs responsible for urine secretion MGI:cwg late onset of the induction and/or differentiation of the kidney MP:0000529 delayed renal development developmental retardation of kidney MPheno.ontology MP:0000528 delayed kidney development MP:0000528 late onset of the induction and/or differentiation of the kidney PMID:7926784 true MP:0000529 any structural anomaly of the network of tubes that carries blood through the organ of excretion kidney vasculature abnormalities abnormal kidney blood vessel morphology abnormal renal vasculature morphology MPheno.ontology MP:0000530 abnormal kidney vasculature morphology MP:0000530 any structural anomaly of the network of tubes that carries blood through the organ of excretion ISBN:0-683-40008-8 anomaly in the asymmetry of the lung such that the lobes on both the left and right side have the morphology normally seen on the right side of the body MPheno.ontology MP:0000531 right pulmonary isomerism MP:0000531 anomaly in the asymmetry of the lung such that the lobes on both the left and right side have the morphology normally seen on the right side of the body https://orcid.org/0000-0002-6490-7723 obstruction of the normal flux of blood within the blood vessel network of the organ of secretion MP:0000257 congested kidney vasculature MPheno.ontology MP:0000532 kidney vascular congestion MP:0000532 obstruction of the normal flux of blood within the blood vessel network of the organ of secretion ISBN:0-683-40008-8 MGI:tc bleeding in the organ of excretion kidney bleeding kidney haemorrhage renal haemorrhage renal hemorrhage MPheno.ontology MP:0000533 kidney hemorrhage MP:0000533 bleeding in the organ of excretion ISBN:0-683-40008-8 MGI:tc any structural anomaly of the tube that conducts the urine from the renal pelvis to the bladder ureter abnormalities ureter dysplasia MPheno.ontology MP:0000534 abnormal ureter morphology MP:0000534 any structural anomaly of the tube that conducts the urine from the renal pelvis to the bladder ISBN:0-683-40008-8 increase in the number of normal cells in normal arrangement in the ureter urothelium, typically resulting in increased size hyperplasia of the luminal epithelium of ureter hyperplastic ureter urothelium luminal epithelium of ureter hyperplasia MPheno.ontology MP:0000535 ureter urothelium hyperplasia MP:0000535 increase in the number of normal cells in normal arrangement in the ureter urothelium, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 distention of the ureter with urine, due to blockage from any cause MPheno.ontology MP:0000536 hydroureter MP:0000536 distention of the ureter with urine, due to blockage from any cause ISBN:0-683-40008-8 MGI:cml any structural anomaly of the fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening urethra abnormalities abnormal urogenital canal morphology urethra dysplasia MPheno.ontology MP:0000537 abnormal urethra morphology MP:0000537 any structural anomaly of the fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening https://orcid.org/0000-0002-6490-7723 any structural anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys abnormal cystis urinaria morphology abnormal urocyst morphology abnormal urocystis morphology abnormal vesica morphology abnormal vesica urinaria morphology urinary bladder dysplasia MPheno.ontology MP:0000538 abnormal urinary bladder morphology MP:0000538 any structural anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys ISBN:0-683-40008-8 stretched musculomembranous organ that serves to collect and store urine excreted by the kidneys dilated urinary bladder megabladder megacystis megalocystis urinary bladder dilation urinary bladder distension MPheno.ontology MP:0000539 distended urinary bladder MP:0000539 stretched musculomembranous organ that serves to collect and store urine excreted by the kidneys ISBN:0-683-40008-8 any structural anomaly of the epithelial lining of the luminal space of the urinary bladder abnormal urinary bladder epithelium morphology abnormal urinary bladder transitional epithelium morphology urinary bladder epithelium dysplasia urinary bladder transitional epithelium dysplasia MPheno.ontology MP:0000540 abnormal urinary bladder urothelium morphology MP:0000540 any structural anomaly of the epithelial lining of the luminal space of the urinary bladder MGI:tc any structural anomaly of the transitional epithelial layer of the urinary bladder MP:0000540 urinary bladder transitional epithelium dysplasia MPheno.ontology MP:0000541 This term is identical to MP:0000540. obsolete abnormal urinary bladder transitional epithelium morphology true MP:0000541 any structural anomaly of the transitional epithelial layer of the urinary bladder MGI:tc anomaly in the asymmetry of the visceral paired organs (e.g. lungs) such that organs on the left and right side have the morphology normally seen on the left side of the body; this may also be associated with the presence of multiple spleens Fyler:0192 Fyler:192 MPheno.ontology polysplenia syndrome (left isomerism) MP:0000542 left-sided isomerism MP:0000542 anomaly in the asymmetry of the visceral paired organs (e.g. lungs) such that organs on the left and right side have the morphology normally seen on the left side of the body; this may also be associated with the presence of multiple spleens https://orcid.org/0000-0003-4606-0597 missing the transitional epithelial layer of the urinary bladder loss of urinary bladder transitional epithelium absence of urinary bladder transitional epithelium absent urinary bladder transitional epithelium MPheno.ontology MP:0000543 absent urinary bladder urothelium MP:0000543 missing the transitional epithelial layer of the urinary bladder MGI:tc PMID:10227294 decrease in the thickness of the transitional epithelial layer of the urinary bladder thin urinary bladder transitional epithelium MPheno.ontology MP:0000544 thin urinary bladder urothelium MP:0000544 decrease in the thickness of the transitional epithelial layer of the urinary bladder MGI:tc PMID:10227294 OBSOLETE. morphological or developmental anomaly of the digits, autopod, limbs, or tail abnormal extremities extremities abnormalities extremities defects abnormal extremity morphology extremities dysplasia extremity dysplasia limbs/digits/tail dysplasia MPheno.ontology MP:0000545 obsolete abnormal limbs/digits/tail morphology true MP:0000545 OBSOLETE. morphological or developmental anomaly of the digits, autopod, limbs, or tail MGI:cwg true MP:0000546 reduced average length of the extremities MP:0002542 brachymelia decreased limb length reduced limb length MPheno.ontology MP:0000547 short limbs MP:0000547 reduced average length of the extremities PMID:10742104 https://orcid.org/0000-0003-3691-0324 increased average length of the extremities increased limb length MPheno.ontology MP:0000548 long limbs MP:0000548 increased average length of the extremities MGI:tc absence of the projecting paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm and/or legs in mammalian species ectromelic limbs absence of limbs MPheno.ontology MP:0000549 absent limbs MP:0000549 absence of the projecting paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm and/or legs in mammalian species https://orcid.org/0000-0003-3691-0324 any structural anomaly of the projecting rostral-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm or front limb in mammalian species forelimb abnormalities abnormal arm morphology forelimb dysplasia MPheno.ontology MP:0000550 abnormal forelimb morphology MP:0000550 any structural anomaly of the projecting rostral-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm or front limb in mammalian species https://orcid.org/0000-0003-3691-0324 absence of the projecting rostral-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm or front limb in mammalian species absence of forelimb MPheno.ontology MP:0000551 absent forelimb MP:0000551 absence of the projecting rostral-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm or front limb in mammalian species https://orcid.org/0000-0003-3691-0324 any structural anomaly of the short bone of the lateral forearm radius dysplasia MPheno.ontology MP:0000552 abnormal radius morphology MP:0000552 any structural anomaly of the short bone of the lateral forearm ISBN:0-683-40008-8 missing the short bone of the lateral forearm absence of radius MPheno.ontology MP:0000553 absent radius MP:0000553 missing the short bone of the lateral forearm ISBN:0-683-40008-8 PMID:10227294 any structural anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands consisting of the scapholunar, triangular, greater multiangular, lesser multiangular, capitate, hamate, centrale and the sesamoids abnormal carpal bone abnormal carpus carpal bone dysplasia carpus dysplasia MPheno.ontology MP:0000554 Note that the bony structure of the human and rodent carpals are different. abnormal carpal bone morphology MP:0000554 any structural anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands consisting of the scapholunar, triangular, greater multiangular, lesser multiangular, capitate, hamate, centrale and the sesamoids ISBN:0-683-40008-8 ISBN:978-0028454405 absence of any or all of the nine nodular bones of the joint between the forelimb bones and the front paws/hands, consisting of the scapholunar, triangular, greater multiangular, lesser multiangular, capitate, hamate, centrale and the sesamoids absence of carpal bone absent carpus MPheno.ontology MP:0000555 Note that the bony structure of the human and rodent carpals are different. absent carpal bone MP:0000555 absence of any or all of the nine nodular bones of the joint between the forelimb bones and the front paws/hands, consisting of the scapholunar, triangular, greater multiangular, lesser multiangular, capitate, hamate, centrale and the sesamoids ISBN:0-683-40008-8 ISBN:978-0028454405 any structural anomaly of the projecting caudal-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the legs or back limbs in mammalian species hind limb abnormalities hindlimb abnormalities abnormal hind limb morphology abnormal leg morphology hind limb dysplasia hindlimb dysplasia MPheno.ontology MP:0000556 abnormal hindlimb morphology MP:0000556 any structural anomaly of the projecting caudal-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the legs or back limbs in mammalian species https://orcid.org/0000-0003-3691-0324 absence of the projecting caudal-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the legs or back limbs in mammalian species absence of hind limb absence of hind limbs absence of hindlimb absent hind limb absent hind limbs MPheno.ontology MP:0000557 absent hindlimb MP:0000557 absence of the projecting caudal-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the legs or back limbs in mammalian species https://orcid.org/0000-0003-3691-0324 any structural anomaly of the medial and larger of the two bones of the lower leg tibia dysplasia MPheno.ontology MP:0000558 abnormal tibia morphology MP:0000558 any structural anomaly of the medial and larger of the two bones of the lower leg ISBN:0-683-40008-8 any structural anomaly of the long bone of the thigh femur dysplasia MPheno.ontology MP:0000559 abnormal femur morphology MP:0000559 any structural anomaly of the long bone of the thigh ISBN:0-683-40008-8 true MP:0000560 missing one or more digits, or all digits Fyler:4173 absence of digits absent fingers absent toes MPheno.ontology MP:0000561 There is ambiguity in the literature regarding the meaning of the term adactyly. Some sources define this as missing all digits and other sources list the definition as missing all or one or more digits. In this ontology, we are using the latter, more inclusive definition, even though this may confound the usage of the term oligodactyly MP:0000565. adactyly MP:0000561 missing one or more digits, or all digits MGI:tc PMID:10227294 greater than the normal complement of digits on one or more autopods Fyler:4103 hyperdactyly polydactylia polydactylism extra fingers extra toes MPheno.ontology MP:0000562 polydactyly MP:0000562 greater than the normal complement of digits on one or more autopods ISBN:0-683-40008-8 true MP:0000563 any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone Fyler:4174 fused fingers fused toes MPheno.ontology MP:0000564 syndactyly MP:0000564 any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone ISBN:0-683-40008-8 congenital condition in which some digits or parts of digits are missing MP:0000563 hypodactyly MPheno.ontology MP:0000565 oligodactyly MP:0000565 congenital condition in which some digits or parts of digits are missing ISBN:0-683-40008-8 PMID:9949198 osseous union of two bones that are not normally connected MPheno.ontology MP:0000566 synostosis MP:0000566 osseous union of two bones that are not normally connected J:13049 absence of the most distal region of the digits truncation of digits MPheno.ontology MP:0000567 truncated digits MP:0000567 absence of the most distal region of the digits PMID:7925010 positional abnormality of a digit heterotopic digits MPheno.ontology MP:0000568 ectopic digits MP:0000568 positional abnormality of a digit PMID:9778510 anomaly in the coloration of the fingers or toes due to changes in the amount, shape, or distribution of cells producing pigment MP:0000570 altered digit pigmentation MPheno.ontology MP:0000569 abnormal digit pigmentation MP:0000569 anomaly in the coloration of the fingers or toes due to changes in the amount, shape, or distribution of cells producing pigment MGI:cwg MGI:llw2 true MP:0000570 fold of skin, or web, between the toes that is not normally present MPheno.ontology MP:0000571 interdigital webbing MP:0000571 fold of skin, or web, between the toes that is not normally present ISBN:0-683-40008-8 PMID:9753320 any structural anomaly of the distal elements of the limb of vertebrates including the pedal or prehensile appendages (e.g. hand, foot, paw, phalanges and/or digits) MP:0004271 hand and/or foot anomaly Fyler:4170 abnormal paw/hand/foot morphology abnormal foot morphology abnormal hand morphology abnormal paw morphology abnormal paws paw abnormalities paw/hand/foot dysplasia MPheno.ontology MP:0000572 abnormal autopod morphology MP:0000572 any structural anomaly of the distal elements of the limb of vertebrates including the pedal or prehensile appendages (e.g. hand, foot, paw, phalanges and/or digits) PMID:12560810 https://orcid.org/0000-0003-3691-0324 larger than average size of the rear feet enlarged hind paws increased hind paw size MPheno.ontology MP:0000573 increased hindlimb autopod size MP:0000573 larger than average size of the rear feet J:51296 any structural anomaly of the body of fat on the foot abnormal foot pads foot pad dysplasia MPheno.ontology MP:0000574 abnormal foot pad morphology MP:0000574 any structural anomaly of the body of fat on the foot MGI:cwg darker color of the foot pads due to excess pigment dark foot pads foot pad hyperpigmentation MPheno.ontology MP:0000575 increased foot pad pigmentation MP:0000575 darker color of the foot pads due to excess pigment MGI:cml congenital deformation of the autopods; hind or forelimb foot is plantarflexed, inverted and adducted Fyler:4171 club foot clubbed feet talipes equino varus talipes equinovarus MPheno.ontology MP:0000576 clubfoot MP:0000576 congenital deformation of the autopods; hind or forelimb foot is plantarflexed, inverted and adducted ISBN:0-683-40008-8 PMID:10709991 absence of the coiled tubular glands situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans MP:0000677 absence of palmar eccrine glands absent palmar eccrine glands absent palmar sweat glands loss of palmar eccrine glands MPheno.ontology MP:0000577 absent eccrine glands MP:0000577 absence of the coiled tubular glands situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans PMID:15843440 inflammatory, often suppurating lesions on the paws; often become necrotic ulcerated paws MPheno.ontology MP:0000578 ulcerated autopod MP:0000578 inflammatory, often suppurating lesions on the paws; often become necrotic J:17194 any structural anomaly of any of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits abnormal nails nail abnormalities nail dysplasia onychodystrophy MPheno.ontology abnormal claw morphology MP:0000579 abnormal nail morphology MP:0000579 any structural anomaly of any of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits ISBN:0-683-40008-8 atypical shape or size of the nails MPheno.ontology deformed claw MP:0000580 deformed nails MP:0000580 atypical shape or size of the nails PMID:9420327 OBSOLETE. appearance of nails and hair on the ventral side of the paw MPheno.ontology MP:0000581 obsolete ventral nails/ hair true MP:0000581 OBSOLETE. appearance of nails and hair on the ventral side of the paw PMID:9778510 keratin extensions from the toenails MPheno.ontology MP:0000582 toenail hyperkeratosis MP:0000582 keratin extensions from the toenails J:62478 increased length of the toenails increased toenail length MPheno.ontology MP:0000583 long toenails MP:0000583 increased length of the toenails PMID:1709129 true MP:0000584 a sharp bend or zigzag in the tail MP:0000586 MP:0000591 crooked tail kinky tail tail kinks MPheno.ontology MP:0000585 kinked tail MP:0000585 a sharp bend or zigzag in the tail PMID:10709991 true MP:0000586 true MP:0000587 a tail with a greater diameter than normal MPheno.ontology MP:0000588 thick tail MP:0000588 a tail with a greater diameter than normal MGI:cwg a tail with a smaller diameter than normal MPheno.ontology MP:0000589 thin tail MP:0000589 a tail with a smaller diameter than normal MGI:cwg true MP:0000590 true MP:0000591 reduced length of tail compared to control MP:0000587 decreased tail length reduced tail length stubbed tail MPheno.ontology MP:0000592 short tail MP:0000592 reduced length of tail compared to control PMID:10572046 OBSOLETE. MPheno.ontology MP:0000593 obsolete tail band true MP:0000593 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0000594 true MP:0000595 any anomaly in the differentiation of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage abnormal hepatic development MPheno.ontology MP:0000596 abnormal liver development MP:0000596 any anomaly in the differentiation of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 late onset of the induction and/or differentiation of the liver MPheno.ontology MP:0000597 delayed hepatic development MP:0000597 late onset of the induction and/or differentiation of the liver PMID:7926784 any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage MP:0000595 abnormal liver Fyler:4447 abnormal hepatic morphology liver dysplasia MPheno.ontology MP:0000598 abnormal liver morphology MP:0000598 any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 larger than average size of the liver hepatomegaly increased liver size MPheno.ontology MP:0000599 enlarged liver MP:0000599 larger than average size of the liver PMID:8941642 decrease in the number of normal cells in normal arrangement in the liver, typically resulting in decreased size hypoplastic liver MPheno.ontology hepatic hypoplasia MP:0000600 liver hypoplasia MP:0000600 decrease in the number of normal cells in normal arrangement in the liver, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 reduced size of the liver decreased liver size reduced liver size MPheno.ontology MP:0000601 small liver MP:0000601 reduced size of the liver PMID:7854452 the luminal space of one or more liver sinusoids is increased in volume or area dilated liver sinusoidal spaces enlarged hepatic sinusoidal space enlarged hepatic sinusoidal spaces hepatic sinusoidal dilation increased liver sinusoidal space size liver sinusoidal space dilation MPheno.ontology MP:0000602 Hepatic sinusoidal dilatation can be caused by hepatic venous outflow obstruction or extrahepatic inflammatory conditions; the dilated lumens can appear congested and packed with erythrocytes. Per PMID:15361506 and PMID:29844855, hepatic sinusoidal dilatation is defined as sinusoidal space (lumen) more than one hepatocyte plate in width dilated liver sinusoidal space MP:0000602 the luminal space of one or more liver sinusoids is increased in volume or area PMID:15361506 PMID:29844855 PMID:7854452 Hepatic sinusoidal dilatation can be caused by hepatic venous outflow obstruction or extrahepatic inflammatory conditions; the dilated lumens can appear congested and packed with erythrocytes. Per PMID:15361506 and PMID:29844855, hepatic sinusoidal dilatation is defined as sinusoidal space (lumen) more than one hepatocyte plate in width https://radiopaedia.org/articles/hepatic-sinusoidal-dilatation https://tpis.upmc.com/tpislibrary/dlp/Chap11frame.html liver lacking normal coloration, often refers to bloodless condition MPheno.ontology MP:0000603 pale liver MP:0000603 liver lacking normal coloration, often refers to bloodless condition PMID:7926784 an accumulation of extracellular amyloid deposits in tissues of the body MP:0000695 increased amyloid deposition MPheno.ontology MP:0000604 amyloidosis MP:0000604 an accumulation of extracellular amyloid deposits in tissues of the body ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0000605 fewer than normal number of parenchymal liver cells reduced hepatocyte cell number MPheno.ontology MP:0000606 decreased hepatocyte number MP:0000606 fewer than normal number of parenchymal liver cells PMID:7854452 any structural anomaly of the main structural specialized epithelial cells which normally organize into interconnected plates called lobules MP:0000605 MP:0002821 abnormal hepatocytes abnormal liver cells MPheno.ontology MP:0000607 abnormal hepatocyte morphology MP:0000607 any structural anomaly of the main structural specialized epithelial cells which normally organize into interconnected plates called lobules MESH:A11.436.348 PMID:7854452 disorganization of cohesive hepatocyte structure dissociation of liver parenchymal cells MPheno.ontology MP:0000608 dissociated hepatocytes MP:0000608 disorganization of cohesive hepatocyte structure PMID:7854452 any functional anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage abnormal hepatic function abnormal hepatic physiology abnormal liver function MPheno.ontology MP:0000609 abnormal liver physiology MP:0000609 any functional anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage ISBN:0-683-40008-8 impairment of bile flow due to obstruction in small bile ducts (intrahepatic cholestasis) or obstruction in large bile ducts (extrahepatic cholestasis) bile duct obstruction bile stasis biliary stasis MPheno.ontology MP:0000610 cholestasis MP:0000610 impairment of bile flow due to obstruction in small bile ducts (intrahepatic cholestasis) or obstruction in large bile ducts (extrahepatic cholestasis) MESH:C06.130.120.135 clinical manifestation of hyperbilirubinemia, with deposition of bile pigments in the skin, resulting in yellowish staining of the skin and mucous membranes icterus MPheno.ontology MP:0000611 jaundice MP:0000611 clinical manifestation of hyperbilirubinemia, with deposition of bile pigments in the skin, resulting in yellowish staining of the skin and mucous membranes MESH:C23.550.429.500 OBSOLETE. MPheno.ontology MP:0000612 obsolete sclerosis true MP:0000612 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the saliva-secreting glands of the oral cavity abnormal salivary glands salivary gland dysplasia MPheno.ontology MP:0000613 abnormal salivary gland morphology MP:0000613 any structural anomaly of the saliva-secreting glands of the oral cavity ISBN:0-683-40008-8 PMID:10906459 missing any of the saliva-secreting glands of the oral cavity absence of salivary glands MPheno.ontology MP:0000614 absent salivary gland MP:0000614 missing any of the saliva-secreting glands of the oral cavity ISBN:0-683-40008-8 MGI:tc PMID:10227294 any structural anomaly of the salivary gland of the hard palate abnormal glandulae palatinae morphology palatine gland dysplasia MPheno.ontology MP:0000615 abnormal palatine gland morphology MP:0000615 any structural anomaly of the salivary gland of the hard palate ISBN:0-683-40008-8 PMID:11002344 fewer branches and distal tips of the vesicles of the palatine gland reduced ductal branching in the palatine gland MPheno.ontology MP:0000616 decreased ductal branching in the palatine gland MP:0000616 fewer branches and distal tips of the vesicles of the palatine gland PMID:11002344 greater than normal number of cells that form mucus in the salivary glands increased number of salivary gland mucosal cells MPheno.ontology MP:0000617 increased salivary gland mucosal cell number MP:0000617 greater than normal number of cells that form mucus in the salivary glands PMID:11002344 reduced size of the saliva-secreting glands of the oral cavity decreased salivary gland size MPheno.ontology MP:0000618 small salivary gland MP:0000618 reduced size of the saliva-secreting glands of the oral cavity ISBN:0-683-40008-8 PMID:10906459 increase in the number of normal cells in normal arrangement in the salivary gland epithelium, typically resulting in increased size hyperplastic salivary gland epithelium MPheno.ontology MP:0000619 salivary gland epithelial hyperplasia MP:0000619 increase in the number of normal cells in normal arrangement in the salivary gland epithelium, typically resulting in increased size ISBN:0-683-40008-8 PMID:10906459 reduced diameter of the tubular canals that carry saliva MPheno.ontology MP:0000620 narrow salivary ducts MP:0000620 reduced diameter of the tubular canals that carry saliva ISBN:0-683-40008-8 PMID:10906459 greater than the expected number of a malignant neoplasm of the secreting cells of the salivary gland, occurring in a specific population in a given time period MP:0002040 MPheno.ontology Salivary Adenocarcinomas acinar carcinoma acinic cell adenocarcinoma acinic cell carcinoma salivary adenocarcinoma MP:0000621 increased salivary adenocarcinoma incidence MP:0000621 greater than the expected number of a malignant neoplasm of the secreting cells of the salivary gland, occurring in a specific population in a given time period ISBN:0-683-40008-8 greater than normal amounts of flowing saliva excess salivation hygrostomia hypersalivation ptyalism sialism sialismus sialosis sialorrhea MPheno.ontology MP:0000622 increased salivation MP:0000622 greater than normal amounts of flowing saliva ISBN:0-683-40008-8 reduction in the flow, secretion, or amount of saliva hyposalivation reduced salivation sialoschesis MPheno.ontology MP:0000623 decreased salivation MP:0000623 reduction in the flow, secretion, or amount of saliva MGI:cwg dryness of the mouth resulting from reduced salivary secretion dry mouth MPheno.ontology MP:0000624 xerostomia MP:0000624 dryness of the mouth resulting from reduced salivary secretion ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0000625 true MP:0000626 any structural anomaly of the compound, alveolar and apocrine accessory gland of the skin of mammals that secretes milk abnormal glandula mammaria morphology abnormal lactiferous gland morphology abnormal mammary glands mammary gland dysplasia MPheno.ontology abnormal Brustdruese morphology abnormal dug morphology abnormal lobe of mammary gland morphology abnormal mamma morphology abnormal mammae morphology MP:0000627 The neonatal male and female rat and mouse have 6 and 5 pairs of glands, respectively, with a single, central lactiferous duct, several branching secondary ducts, and numerous tertiary ducts (Ceriani 1970; Cardiff and Wellings 1999). In the rat, the glands are distributed in pairs along the milk line, with 1 pair cervical, 2 thoracic, 1 abdominal, and 2 inguinal (Astwood, Geschickter, and Rausch 1937). Distribution in the mouse is in the neck, chest wall (2 pairs), abdominal wall, and inguinal region (Cardiff and Wellings 1999). abnormal mammary gland morphology MP:0000627 any structural anomaly of the compound, alveolar and apocrine accessory gland of the skin of mammals that secretes milk ISBN:0-683-40008-8 aberration in the differentiation of the mammary gland during early embryogenesis or during sexual maturity MP:0003428 abnormal Brustdruese development abnormal Lactiferous gland development abnormal Lobe of breast development abnormal Lobe of mammary gland development abnormal breast development abnormal glandula mammaria development abnormal lactiferous gland development abnormal lobe of breast development abnormal lobe of mammary gland development abnormal mamma development abnormal mammae development abnormal mammary development abnormal mammogenesis MPheno.ontology MP:0000628 abnormal mammary gland development MP:0000628 aberration in the differentiation of the mammary gland during early embryogenesis or during sexual maturity ISBN:0-683-40008-8 absence of the specialized accessory gland of the skin of mammals that secretes milk absence of mammary glands absent Brustdruese absent Lactiferous gland absent Lobe of breast absent Lobe of mammary gland absent breast absent glandula mammaria absent lactiferous gland absent lobe of breast absent lobe of mammary gland absent mamma absent mammae amastia MPheno.ontology MP:0000629 absent mammary gland MP:0000629 absence of the specialized accessory gland of the skin of mammals that secretes milk PMID:7958926 increase in the number of normal cells in normal arrangement in the mammary gland, typically resulting in increased size Brustdruese hyperplasia Lactiferous gland hyperplasia Lobe of breast hyperplasia Lobe of mammary gland hyperplasia breast hyperplasia glandula mammaria hyperplasia lactiferous gland hyperplasia lobe of breast hyperplasia lobe of mammary gland hyperplasia mamma hyperplasia mammae hyperplasia MPheno.ontology MP:0000630 mammary gland hyperplasia MP:0000630 increase in the number of normal cells in normal arrangement in the mammary gland, typically resulting in increased size https://orcid.org/0000-0003-4606-0597 any structural anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli abnormal neuroendocrine glands neuroendocrine gland dysplasia MPheno.ontology MP:0000631 abnormal neuroendocrine gland morphology MP:0000631 any structural anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli ISBN:0-683-40008-8 any structural anomaly of the unpaired epithalamic structure that is shaped like a tiny pine cone and located above the posterior commissure near the level of the habenular complex and the sylvian aqueduct; it is both a circumventricular organ and an endocrine organ that secretes melatonin, a serotonin-derived hormone involved in the regulation of circadian rhythms; the pineal parenchyma, consisting of pinealocytes, interstitial (glial-like) cells, phagocytes and capillaries, is arranged into large folliculi separated by septae of connective tissue and blood vessels abnormal pineal glands abnormal conarium morphology abnormal corpus pineale morphology abnormal epiphysis cerebri morphology abnormal glandula pinealis morphology abnormal pineal body morphology pineal gland dysplasia MPheno.ontology MP:0000632 abnormal pineal gland morphology MP:0000632 any structural anomaly of the unpaired epithalamic structure that is shaped like a tiny pine cone and located above the posterior commissure near the level of the habenular complex and the sylvian aqueduct; it is both a circumventricular organ and an endocrine organ that secretes melatonin, a serotonin-derived hormone involved in the regulation of circadian rhythms; the pineal parenchyma, consisting of pinealocytes, interstitial (glial-like) cells, phagocytes and capillaries, is arranged into large folliculi separated by septae of connective tissue and blood vessels ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin from the anterior lobe; melanocyte stimulating hormone from the intermediate lobe and hormones involved in blood pressure regulation from the posterior lobe abnormal pituitary glands abnormal hypophysis morphology abnormal pituitary morphology pituitary gland dysplasia MPheno.ontology MP:0000633 abnormal pituitary gland morphology MP:0000633 any structural anomaly of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin from the anterior lobe; melanocyte stimulating hormone from the intermediate lobe and hormones involved in blood pressure regulation from the posterior lobe ISBN:0-683-40008-8 true MP:0000634 increase in the number of normal cells in normal arrangement in the pituitary gland, typically resulting in increased size MP:0000634 hyperplastic pituitary gland pituitary hyperplasia MPheno.ontology MP:0000635 pituitary gland hyperplasia MP:0000635 increase in the number of normal cells in normal arrangement in the pituitary gland, typically resulting in increased size ISBN:0-683-40008-8 increased size of pituitary gland increased pituitary gland size MPheno.ontology MP:0000636 enlarged pituitary gland MP:0000636 increased size of pituitary gland PMID:9744866 OBSOLETE. MP:0000985 MPheno.ontology MP:0000637 obsolete abnormal merkel cells true MP:0000637 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MP:0000986 MPheno.ontology MP:0000638 obsolete hyperproliferation of merkel cells true MP:0000638 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla abnormal adrenal glands abnormal adrenal body morphology abnormal adrenal morphology abnormal suprarenal body morphology abnormal suprarenal gland morphology adrenal gland dysplasia MPheno.ontology MP:0000639 abnormal adrenal gland morphology MP:0000639 any structural anomaly of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the adrenal gland, typically resulting in decreased size adrenal hypoplasia hypoplastic adrenal gland MPheno.ontology MP:0000640 adrenal gland hypoplasia MP:0000640 decrease in the number of normal cells in normal arrangement in the adrenal gland, typically resulting in decreased size ISBN:0-683-40008-8 true MP:0000641 increased size of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla MP:0000641 increased adrenal gland size MPheno.ontology MP:0000642 enlarged adrenal glands MP:0000642 increased size of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla ISBN:0-683-40008-8 absence of the inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine absent adrenal gland medulla absent suprarenal gland medulla absent central medulla MPheno.ontology MP:0000643 absent adrenal medulla MP:0000643 absence of the inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine ISBN:0-683-40008-8 MGI:llw2 congenital defect in which the heart is located on the right side of the thorax instead of on the left side (levocardia, the normal position) Fyler:0110 Fyler:110 MPheno.ontology MP:0000644 dextrocardia MP:0000644 congenital defect in which the heart is located on the right side of the thorax instead of on the left side (levocardia, the normal position) MESH:C14.240.400.280 https://orcid.org/0000-0002-6490-7723 absence of the cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion absence of adrenergic chromaffin cells loss of adrenergic chromaffin cells MPheno.ontology MP:0000645 absent adrenergic chromaffin cells MP:0000645 absence of the cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion ISBN:0-683-40008-8 PMID:10357937 https://orcid.org/0000-0003-3691-0324 larger size of cells of the steroid hormone-producing cells of the cortex of the adrenal gland enlarged cortical cells increased adrenocortical cell size MPheno.ontology adrenocortical cell hypertrophy MP:0000646 enlarged adrenocortical cells MP:0000646 larger size of cells of the steroid hormone-producing cells of the cortex of the adrenal gland ISBN:0-683-40008-8 PMID:10357937 any structural anomaly of the holocrine glands that secrete sebum into the hair follicles or in hairless areas into ducts MP:0001226 sebaceous gland dysplasia MPheno.ontology MP:0000647 abnormal sebaceous gland morphology MP:0000647 any structural anomaly of the holocrine glands that secrete sebum into the hair follicles or in hairless areas into ducts MGI:tc absence of the holocrine glands of the dermis that secrete sebum into the hair follicles MP:0001227 loss of sebaceous glands absence of sebaceous glands MPheno.ontology MP:0000648 absent sebaceous gland MP:0000648 absence of the holocrine glands of the dermis that secrete sebum into the hair follicles MGI:tc PMID:10227294 acquired diminution of the size of the holocrine glands of the dermis that secrete sebum into the hair follicles, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0001228 atrophic sebaceous gland MPheno.ontology MP:0000649 sebaceous gland atrophy MP:0000649 acquired diminution of the size of the holocrine glands of the dermis that secrete sebum into the hair follicles, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes PMID:8941642 https://orcid.org/0000-0003-3691-0324 congenital defect in which the heart is located in the middle of the thorax instead of on the left side (levocardia, the normal position) Fyler:0140 Fyler:140 MPheno.ontology MP:0000650 mesocardia MP:0000650 congenital defect in which the heart is located in the middle of the thorax instead of on the left side (levocardia, the normal position) https://orcid.org/0000-0002-6490-7723 true MP:0000651 increased size of the sebum secreting glands of the hair shaft MP:0001229 increased sebaceous gland size MPheno.ontology MP:0000652 enlarged sebaceous gland MP:0000652 increased size of the sebum secreting glands of the hair shaft https://orcid.org/0000-0003-3691-0324 any structural anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction abnormal gland of genitalia abnormal gland of reproductive system abnormal sex glands abnormal genitalia gland morphology abnormal reproductive gland morphology abnormal reproductive system gland morphology sex gland dysplasia MPheno.ontology MP:0000653 abnormal sex gland morphology MP:0000653 any structural anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction MGI:cwg missing any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction absence of sex glands absent reproductive gland MPheno.ontology MP:0000654 absent sex gland MP:0000654 missing any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction ISBN:0-683-40008-8 stretched appearance or excessive fluid in one or more sex glands MP:0001118 dilated sex glands dilation of sex glands sex gland dilation MPheno.ontology MP:0000655 dilated sex gland MP:0000655 stretched appearance or excessive fluid in one or more sex glands J:62478 true MP:0000656 true MP:0000657 true MP:0000658 increase in the number of normal cells in normal arrangement in the prostate gland, typically resulting in increased size MP:0001160 hyperplastic prostate gland MPheno.ontology MP:0000659 prostate gland hyperplasia MP:0000659 increase in the number of normal cells in normal arrangement in the prostate gland, typically resulting in increased size ISBN:0-683-40008-8 PMID:10906459 decrease in the number of normal cells in normal arrangement in the prostate gland lateral lobe, typically resulting in decreased size MP:0001161 LP hypoplasia hypoplastic lateral prostate hypoplastic lateral prostate lobe lateral prostate gland hypoplasia lateral prostate hypoplasia MPheno.ontology MP:0000660 prostate gland lateral lobe hypoplasia MP:0000660 decrease in the number of normal cells in normal arrangement in the prostate gland lateral lobe, typically resulting in decreased size ISBN:0-683-40008-8 PMID:10906459 reduced size of the rodent prostate lobe that is located below the ventral aspect of the bladder neck MP:0001162 decreased prostate gland ventral lobe size small VP small ventral prostate gland MPheno.ontology MP:0000661 small prostate gland ventral lobe MP:0000661 reduced size of the rodent prostate lobe that is located below the ventral aspect of the bladder neck PMID:10906459 PMID:12645922 PMID:3308446 anomaly in the development of the channels that secrete milk and direct milk to the nipple MPheno.ontology MP:0000662 abnormal branching of the mammary ductal tree MP:0000662 anomaly in the development of the channels that secrete milk and direct milk to the nipple https://orcid.org/0000-0003-4606-0597 true MP:0000663 reduced size of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles MP:0001164 decreased prostate gland anterior lobe size small AP small coagulating gland MPheno.ontology MP:0000664 small prostate gland anterior lobe MP:0000664 reduced size of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles PMID:11002344 PMID:12645922 PMID:3308446 fewer branches and distal tips of the vesicles of the coagulating gland MP:0001165 decreased ductal branching, coagulating gland reduced ductal branching in the coagulating gland MPheno.ontology MP:0000665 decreased ductal branching in the coagulating gland MP:0000665 fewer branches and distal tips of the vesicles of the coagulating gland PMID:11002344 fewer than normal minute canals that pass the prostatic secretions to the urethra MP:0001166 decreased number of prostate ducts decreased prostate duct number reduced number of prostate ducts reduced prostate duct number MPheno.ontology MP:0000666 decreased prostate gland duct number MP:0000666 fewer than normal minute canals that pass the prostatic secretions to the urethra ISBN:0-683-40008-8 PMID:10906459 true MP:0000667 true MP:0000668 true MP:0000669 true MP:0000670 decrease in the number of normal cells in normal arrangement in the bulbourethral gland, typically resulting in decreased size MP:0001171 Cowper's gland hypoplasia Mery gland hypoplasia bulbo-urethral gland hypoplasia hypoplastic bulbourethral gland reduced bulbourethral gland cellularity MPheno.ontology MP:0000671 bulbourethral gland hypoplasia MP:0000671 decrease in the number of normal cells in normal arrangement in the bulbourethral gland, typically resulting in decreased size ISBN:0-683-40008-8 PMID:10215624 OBSOLETE. fewer than normal number of cells that secrete fluid containing carbohydrate-rich glycoproteins MP:0001172 reduced mucin cell number reduced number of mucin cells MPheno.ontology MP:0000672 obsolete decreased mucin cell number true MP:0000672 OBSOLETE. fewer than normal number of cells that secrete fluid containing carbohydrate-rich glycoproteins ISBN:0-683-40008-8 true MP:0000673 any structural anomaly of any of the coil glands of the skin that secrete sweat abnormal sweat glands sweat gland dysplasia MPheno.ontology MP:0000674 abnormal sweat gland morphology MP:0000674 any structural anomaly of any of the coil glands of the skin that secrete sweat ISBN:0-683-40008-8 any structural anomaly of the coiled tubular glands situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans; in mice these are the only sweat glands present abnormal palmar eccrine gland morphology abnormal palmar eccrine glands abnormal palmar sweat gland morphology abnormal palmar sweat glands palmar eccrine gland dysplasia MPheno.ontology MP:0000675 The palmar and plantar eccrine glands of rodents are thought to provide enhanced tactile sensitivity rather than serving the thermoregulatory role ascribed to eccrine glands of the thin skin in humans. abnormal eccrine sweat gland morphology MP:0000675 any structural anomaly of the coiled tubular glands situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans; in mice these are the only sweat glands present PMID:15843440 https://orcid.org/0000-0003-3691-0324 more or less than the normal total amount of water retained in the body MPheno.ontology MP:0000676 abnormal body water content MP:0000676 more or less than the normal total amount of water retained in the body MGI:il true MP:0000677 any structural anomaly of one of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism MP:0001735 abnormal parathyroid glands parathyroid gland dysplasia MPheno.ontology MP:0000678 abnormal parathyroid gland morphology MP:0000678 any structural anomaly of one of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism ISBN:0-683-40008-8 more than the normal total amount of water retained in the body measured post mortem increased percentage water in carcass MPheno.ontology MP:0000679 increased percent water in carcass MP:0000679 more than the normal total amount of water retained in the body measured post mortem MGI:il missing the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland, which secrete parathyroid hormone (PTH) MP:0001736 absence of parathyroid glands loss of parathyroid glands MPheno.ontology MP:0000680 absent parathyroid glands MP:0000680 missing the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland, which secrete parathyroid hormone (PTH) ISBN:0-683-40008-8 any structural anomaly of the endocrine gland located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin MP:0001737 MP:0003500 abnormal thyroid glands abnormal thyroid morphology thyroid dysplasia MPheno.ontology MP:0000681 abnormal thyroid gland morphology MP:0000681 any structural anomaly of the endocrine gland located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin ISBN:0-683-40008-8 true MP:0000682 less than the normal total amount of water retained in the body measured post mortem decreased percentage water in carcass reduced percent water in carcass MPheno.ontology MP:0000683 decreased percent water in carcass MP:0000683 less than the normal total amount of water retained in the body measured post mortem MGI:il true MP:0000684 any structural anomaly in the organs or cells associated with the development and formation of lymphocytes immune system abnormalities lymphoid system abnormalities lymphopoietic system abnormalities immune system dysplasia MPheno.ontology MP:0000685 abnormal immune system morphology MP:0000685 any structural anomaly in the organs or cells associated with the development and formation of lymphocytes MGI:cwg true MP:0000686 reduced size of lymphatic tissues MPheno.ontology MP:0000687 small lymphoid organs MP:0000687 reduced size of lymphatic tissues ISBN:0-683-40008-8 J:34193 increase in the number of normal cells in normal arrangement in the lymphoid tissue, typically resulting in increased size hyperplastic lymph organ increased lymphoid tissue cellularity lymph organ hyperplasia MPheno.ontology MP:0000688 lymphoid hyperplasia MP:0000688 increase in the number of normal cells in normal arrangement in the lymphoid tissue, typically resulting in increased size MGI:cwg any structural anomaly of the organ that functions to filter blood and to store red corpuscles and platelets MP:0002226 spleen abnormalities abnormal spleen structure abnormal splenic morphology spleen dysplasia MPheno.ontology MP:0000689 abnormal spleen morphology MP:0000689 any structural anomaly of the organ that functions to filter blood and to store red corpuscles and platelets ISBN:0-683-40008-8 missing organ that functions to filter blood and to store red corpuscles and platelets Fyler:4771 absence of spleen asplenia splenic agenesis MPheno.ontology MP:0000690 absent spleen MP:0000690 missing organ that functions to filter blood and to store red corpuscles and platelets ISBN:0-683-40008-8 PMID:10572046 increased spleen size increased spleen size megosplenia splenomegalia splenomegaly MPheno.ontology MP:0000691 enlarged spleen MP:0000691 increased spleen size MGI:cwg decreased spleen size decreased spleen size decreased splenic size hyposplenia reduced spleen size MPheno.ontology MP:0000692 small spleen MP:0000692 decreased spleen size MGI:cwg increase in the number of normal cells in normal arrangement in the spleen, typically resulting in increased size hyperplastic spleen increased spleen cellularity splenic hyperplasia MPheno.ontology MP:0000693 spleen hyperplasia MP:0000693 increase in the number of normal cells in normal arrangement in the spleen, typically resulting in increased size ISBN:0-683-40008-8 PMID:8646780 decrease in the number of normal cells in normal arrangement in the spleen, typically resulting in decreased size MP:0002466 decreased spleen cellularity hypoplastic spleen splenic hypoplasia MPheno.ontology MP:0000694 spleen hypoplasia MP:0000694 decrease in the number of normal cells in normal arrangement in the spleen, typically resulting in decreased size MGI:cwg true MP:0000695 any structural anomaly of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles abnormal Peyer's patches MPheno.ontology MP:0000696 abnormal Peyer's patch morphology MP:0000696 any structural anomaly of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles MESH:A10.549.600 PMID:15841100 OBSOLETE. greater or more obvious numbers of Peyer's patches MP:0008132 MP:0008136 MPheno.ontology MP:0000697 obsolete more prevalent Peyer's patches true MP:0000697 OBSOLETE. greater or more obvious numbers of Peyer's patches MGI:cwg OBSOLETE. fewer or less obvious numbers of Peyer's patches MP:0008133 MP:0008135 MPheno.ontology MP:0000698 obsolete less prevalent Peyer's patches true MP:0000698 OBSOLETE. fewer or less obvious numbers of Peyer's patches MGI:cwg true MP:0000699 deviation from the normal number of lymph nodes MPheno.ontology MP:0000700 abnormal lymph node number MP:0000700 deviation from the normal number of lymph nodes MGI:cwg deviation from the normal lymph node size MPheno.ontology MP:0000701 abnormal lymph node size MP:0000701 deviation from the normal lymph node size MGI:cwg lymph nodes of increased size adenopathy increased lymph node size lymphadenopathy MPheno.ontology MP:0000702 enlarged lymph nodes MP:0000702 lymph nodes of increased size MGI:cwg any structural anomaly of the primary lymphoid organ that is required for maturation of T cells and secretion of thymosins, hormones that stimulate the development of antibodies; the thymus also stimulates the production of certain pituitary gland hormones that promote growth and sexual maturation MP:0002366 thymus abnormalities abnormal thymic morphology abnormal thymus structure thymus dysplasia MPheno.ontology MP:0000703 abnormal thymus morphology MP:0000703 any structural anomaly of the primary lymphoid organ that is required for maturation of T cells and secretion of thymosins, hormones that stimulate the development of antibodies; the thymus also stimulates the production of certain pituitary gland hormones that promote growth and sexual maturation ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 anomaly in the formation and/or differentiation of the thymus abnormal development of the thymus abnormal thymic development abnormal thymus organogenesis MPheno.ontology MP:0000704 in mouse, the parathyroid glands develop with the thymus from two common parathyroid/thymus primordia originating from the third pharyngeal pouch endoderm; the third pharyngeal pouches are formed at E9.5-E10 and are patterned into dorsal/anterior parathyroid and ventral/posterior thymus domains; the third pouch endoderm proliferates to form bilateral parathyroid/thymus common primordia at E11-E11.5; each primordium separates into one parathyroid gland and one thymus lobe at E12.5-E13.5, which then migrate to their eventual adult locations by about E14.5; the parathyroids locate adjacent to, or sometimes embedded within, the thyroid gland; the thymus migrates further caudally into the thorax, where the two lobes meet at the midline just above the heart; embryonic thymic remnants can give rise to ectopic thymic tissue in the neck, thyroid, and parathyroid glands; the thymus is the first of the lymphoid organs to be formed and grows considerably immediately after birth in response to postnatal antigen stimulation and the demand for large numbers of mature T cells; in rats and mice, the thymus reaches maximal size by sexual maturity and then gradually involutes abnormal thymus development MP:0000704 anomaly in the formation and/or differentiation of the thymus MGI:cwg in mouse, the parathyroid glands develop with the thymus from two common parathyroid/thymus primordia originating from the third pharyngeal pouch endoderm; the third pharyngeal pouches are formed at E9.5-E10 and are patterned into dorsal/anterior parathyroid and ventral/posterior thymus domains; the third pouch endoderm proliferates to form bilateral parathyroid/thymus common primordia at E11-E11.5; each primordium separates into one parathyroid gland and one thymus lobe at E12.5-E13.5, which then migrate to their eventual adult locations by about E14.5; the parathyroids locate adjacent to, or sometimes embedded within, the thyroid gland; the thymus migrates further caudally into the thorax, where the two lobes meet at the midline just above the heart; embryonic thymic remnants can give rise to ectopic thymic tissue in the neck, thyroid, and parathyroid glands; the thymus is the first of the lymphoid organs to be formed and grows considerably immediately after birth in response to postnatal antigen stimulation and the demand for large numbers of mature T cells; in rats and mice, the thymus reaches maximal size by sexual maturity and then gradually involutes PMID:17067941 PMID:21862553 http://dev.biologists.org/content/138/18/3865.full.pdf absence of the primary lymphoid organ Absence of Thymus absent thymus athymic MPheno.ontology MP:0000705 athymia MP:0000705 absence of the primary lymphoid organ ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 reduced size of the thymus decreased thymus size reduced thymus size MPheno.ontology MP:0000706 small thymus MP:0000706 reduced size of the thymus MGI:cwg true MP:0000707 increase in the number of normal cells in normal arrangement in the thymus, typically resulting in increased size hyperplastic thymus increased thymus cellularity thymic hyperplasia MPheno.ontology MP:0000708 thymus hyperplasia MP:0000708 increase in the number of normal cells in normal arrangement in the thymus, typically resulting in increased size ISBN:0-683-40008-8 PMID:8646780 increased size of thymus increased thymus size MPheno.ontology MP:0000709 enlarged thymus MP:0000709 increased size of thymus PMID:9744866 true MP:0000710 decrease in the number of normal cells in normal arrangement in the tymus cortex, typically resulting in decreased size MP:0005045 decreased cellularity of thymic cortex decreased thymic cortex cellularity hypoplasia of thymic cortex hypoplastic thymus cortex thymic cortex hypoplasia MPheno.ontology MP:0000711 thymus cortex hypoplasia MP:0000711 decrease in the number of normal cells in normal arrangement in the tymus cortex, typically resulting in decreased size ISBN:0-683-40008-8 OBSOLETE. MP:0008037 MP:0002372 abnormal thymocytes MPheno.ontology MP:0000712 obsolete abnormal thymocyte true MP:0000712 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MP:0006387 MPheno.ontology MP:0000713 obsolete abnormal thymocyte number true MP:0000713 OBSOLETE. https://orcid.org/0000-0003-3691-0324 greater than expected number of immature T cells located in the thymus MP:0000326 MP:0000721 MP:0001827 CL:0000893 increased thymocyte count MPheno.ontology MP:0000714 increased thymocyte number MP:0000714 greater than expected number of immature T cells located in the thymus CL:0000893 fewer than expected number of immature T cells located in the thymus MP:0000338 MP:0000725 MP:0001826 CL:0000893 reduced thymocyte number MPheno.ontology MP:0000715 decreased thymocyte number MP:0000715 fewer than expected number of immature T cells located in the thymus CL:0000893 any structural anomaly of immune cells abnormal immune cells immune system: cellular abnormalities MPheno.ontology MP:0000716 abnormal immune system cell morphology MP:0000716 any structural anomaly of immune cells MGI:cwg deviation from the normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells abnormal immune cell number MPheno.ontology MP:0000717 abnormal lymphocyte cell number MP:0000717 deviation from the normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells MGI:cwg https://orcid.org/0000-0003-3691-0324 true MP:0000718 true MP:0000719 true MP:0000720 true MP:0000721 true MP:0000722 true MP:0000723 true MP:0000724 true MP:0000725 absence of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells absence of immune cell loss of immune cell absence of lymphocyte MPheno.ontology MP:0000726 absent lymphocyte MP:0000726 absence of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells MGI:cwg https://orcid.org/0000-0003-3691-0324 lack of the set of single-positive T cells that express CD8 on their surface MP:0000345 absent single positive T cells Loss of CD4-8+ cells absence of CD4-8+ Cells absence of CD4-8+ cells absent CD4-8+ T cells absent CD8+ T cells MPheno.ontology MP:0000727 absent CD8-positive, alpha-beta T cells MP:0000727 lack of the set of single-positive T cells that express CD8 on their surface MGI:cwg true MP:0000728 anomaly in embryonic formation of muscle cells or fibers myogenesis abnormalities MPheno.ontology MP:0000729 abnormal myogenesis MP:0000729 anomaly in embryonic formation of muscle cells or fibers ISBN:0-683-40008-8 greater number of unfused cells in muscle that play a role in muscle regeneration increased number of satellite cells MPheno.ontology MP:0000730 increased satellite cell number MP:0000730 greater number of unfused cells in muscle that play a role in muscle regeneration PMID:9284044 accumulation of collagen within the muscles MPheno.ontology MP:0000731 increased collagen deposition in the muscles MP:0000731 accumulation of collagen within the muscles MGI:cwg development of initial muscle cells at a later time than is normal MPheno.ontology MP:0000732 delayed primary myocyte appearance MP:0000732 development of initial muscle cells at a later time than is normal MGI:cwg any anomaly in the differentiation of muscle tissue muscle development abnormalities MPheno.ontology MP:0000733 abnormal muscle development MP:0000733 any anomaly in the differentiation of muscle tissue MGI:cwg decrease in the number of normal cells in normal arrangement in the muscle, typically resulting in decreased size hypoplastic muscle MPheno.ontology MP:0000734 muscle hypoplasia MP:0000734 decrease in the number of normal cells in normal arrangement in the muscle, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 true MP:0000735 late onset of the induction and/or differentiation of skeletal muscle MPheno.ontology MP:0000736 delayed muscle development MP:0000736 late onset of the induction and/or differentiation of skeletal muscle PMID:7926784 malformation of or absence of the part of the somite that develops into the musculature MPheno.ontology MP:0000737 abnormal myotome development MP:0000737 malformation of or absence of the part of the somite that develops into the musculature ISBN:0-683-40008-8 inability or reduced ability of a muscle to shorten or to develop increased tension MPheno.ontology MP:0000738 impaired muscle contractility MP:0000738 inability or reduced ability of a muscle to shorten or to develop increased tension ISBN:0-683-40008-8 true MP:0000739 inability or reduced ability of the smooth muscle to shorten or to develop increased tension MPheno.ontology MP:0000740 impaired smooth muscle contractility MP:0000740 inability or reduced ability of the smooth muscle to shorten or to develop increased tension ISBN:0-683-40008-8 inability or reduced ability of the detrusor smooth muscle of the urinary bladder to shorten or to develop increased tension voluntarily or involuntarily; stretching of the smooth muscle fibers by accumulation of urine in the bladder leads to nervous signaling giving the urge to urinate; contraction of the detrusor muscle leads to urination, via emptying of the urine contained in the bladder through the urethra and urine excretion impaired contractility of detrusor muscle impaired contractility of detrusor urinae muscle impaired contractility of musculus detrusor MPheno.ontology MP:0000741 impaired contractility of urinary bladder detrusor smooth muscle MP:0000741 inability or reduced ability of the detrusor smooth muscle of the urinary bladder to shorten or to develop increased tension voluntarily or involuntarily; stretching of the smooth muscle fibers by accumulation of urine in the bladder leads to nervous signaling giving the urge to urinate; contraction of the detrusor muscle leads to urination, via emptying of the urine contained in the bladder through the urethra and urine excretion ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 inability or reduced ability of the ileal smooth muscle to shorten or to develop increased tension MPheno.ontology MP:0000742 impaired contractility of ileal smooth muscle MP:0000742 inability or reduced ability of the ileal smooth muscle to shorten or to develop increased tension ISBN:0-683-40008-8 an involuntary and often painful muscle contraction or cramps having a number of causes ranging from nutritional deficiency to serious nervous system conditions MP:0000744 muscle spasms MPheno.ontology MP:0000743 muscle spasm MP:0000743 an involuntary and often painful muscle contraction or cramps having a number of causes ranging from nutritional deficiency to serious nervous system conditions MGI:llw2 https://orcid.org/0000-0003-3691-0324 true MP:0000744 repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement shivering quivering shaking trembling tremor MPheno.ontology MP:0000745 tremors MP:0000745 repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement ISBN:0-683-40008-8 MESH:C10.597.350.850 state of being infirm or less strong than normal MPheno.ontology MP:0000746 weakness MP:0000746 state of being infirm or less strong than normal PMID:9420327 loss of muscle strength MPheno.ontology MP:0000747 muscle weakness MP:0000747 loss of muscle strength https://orcid.org/0000-0003-3691-0324 increasing loss of muscle strength over time MPheno.ontology MP:0000748 progressive muscle weakness MP:0000748 increasing loss of muscle strength over time https://orcid.org/0000-0003-3691-0324 pathological deterioration of muscle tissue, often accompanied by loss of function MPheno.ontology MP:0000749 muscle degeneration MP:0000749 pathological deterioration of muscle tissue, often accompanied by loss of function https://orcid.org/0000-0003-3691-0324 anomaly in the renewal, repair, and/or regrowth of muscle tissue following injury or disease MP:0002547 muscle regeneration abnormalities MPheno.ontology MP:0000750 abnormal muscle regeneration MP:0000750 anomaly in the renewal, repair, and/or regrowth of muscle tissue following injury or disease PMID:9284044 https://orcid.org/0000-0002-6490-7723 any abnormal condition or disease of the skeletal muscle MPheno.ontology MP:0000751 myopathy MP:0000751 any abnormal condition or disease of the skeletal muscle ISBN:0-683-40008-8 PMID:9284044 progressive weakness and wasting of muscle muscular dystrophy MPheno.ontology MP:0000752 dystrophic muscle MP:0000752 progressive weakness and wasting of muscle ISBN:0-683-40008-8 severe or complete loss of power of voluntary movement in a muscle through injury or disease of its nerve supply MPheno.ontology MP:0000753 paralysis MP:0000753 severe or complete loss of power of voluntary movement in a muscle through injury or disease of its nerve supply ISBN:0-683-40008-8 mild or partial loss of power of voluntary movement in a muscle through injury or disease of it or its nerve supply partial paralysis MPheno.ontology MP:0000754 paresis MP:0000754 mild or partial loss of power of voluntary movement in a muscle through injury or disease of it or its nerve supply ISBN:0-683-40008-8 severe or complete loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply hind limb paralysis MPheno.ontology MP:0000755 hindlimb paralysis MP:0000755 severe or complete loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply ISBN:0-683-40008-8 severe or complete loss of power of voluntary movement in muscles of the forelimb through injury or disease of it or its nerve supply fore limb paralysis MPheno.ontology MP:0000756 forelimb paralysis MP:0000756 severe or complete loss of power of voluntary movement in muscles of the forelimb through injury or disease of it or its nerve supply ISBN:0-683-40008-8 protrusions through and/or into the abdominal wall often resulting in the extrusion of viscera Fyler:4414 abdominoschisis gastroschisis laparoschisis paraomphalocele MPheno.ontology MP:0000757 herniated abdominal wall MP:0000757 protrusions through and/or into the abdominal wall often resulting in the extrusion of viscera ISBN:0-683-40008-8 PMID:9144284 true MP:0000758 any structural anomaly of any of the striated muscle fibers connected at either or both extremities with the bony framework of the body abnormal skeletal muscles skeletal muscle abnormalities skeletal muscle dysplasia MPheno.ontology abnormal striated muscle morphology MP:0000759 abnormal skeletal muscle morphology MP:0000759 any structural anomaly of any of the striated muscle fibers connected at either or both extremities with the bony framework of the body ISBN:0-683-40008-8 true MP:0000760 reduced thickness of the diaphragm muscle MPheno.ontology MP:0000761 thin diaphragm muscle MP:0000761 reduced thickness of the diaphragm muscle https://orcid.org/0000-0003-3691-0324 any structural anomaly of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor tongue abnormalities tongue dysplasia MPheno.ontology MP:0000762 abnormal tongue morphology MP:0000762 any structural anomaly of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor ISBN:0-683-40008-8 any structural anomaly of the keratinized projections on the dorsal surface of the tongue filiform papillae dysplasia MPheno.ontology MP:0000763 abnormal filiform papillae morphology MP:0000763 any structural anomaly of the keratinized projections on the dorsal surface of the tongue PMID:9420327 any structural anomaly of the epithelial layer of the tongue tongue epithelium dysplasia MPheno.ontology MP:0000764 abnormal tongue epithelium morphology MP:0000764 any structural anomaly of the epithelial layer of the tongue ISBN:0-683-40008-8 MGI:tc any structural anomaly of the scaly epithelial layer of the tongue tongue squamous epithelium dysplasia MPheno.ontology MP:0000765 abnormal tongue squamous epithelium morphology MP:0000765 any structural anomaly of the scaly epithelial layer of the tongue ISBN:0-683-40008-8 MGI:tc missing the scaly epithelial layer of the tongue absence of tongue squamous epithelium loss of tongue squamous epithelium MPheno.ontology MP:0000766 absent tongue squamous epithelium MP:0000766 missing the scaly epithelial layer of the tongue ISBN:0-683-40008-8 MGI:tc PMID:10227294 any structural anomaly of any of the unstriated muscle fibers of the internal organs, blood vessels, hair follicles, etc. smooth muscle abnormalities smooth muscle dysplasia MPheno.ontology MP:0000767 abnormal smooth muscle morphology MP:0000767 any structural anomaly of any of the unstriated muscle fibers of the internal organs, blood vessels, hair follicles, etc. ISBN:0-683-40008-8 OBSOLETE. any malformation or anomaly in the entire nerve apparatus, composed of a central part, the brain and spinal cord, and a peripheral part, the cranial and spinal nerves, autonomic ganglia, and plexuses MP:0003633 MP:0006387 nervous system defects MPheno.ontology MP:0000768 obsolete nervous system abnormalities true MP:0000768 OBSOLETE. any malformation or anomaly in the entire nerve apparatus, composed of a central part, the brain and spinal cord, and a peripheral part, the cranial and spinal nerves, autonomic ganglia, and plexuses MESH:A08 https://orcid.org/0000-0003-3691-0324 true MP:0000769 true MP:0000770 deviation from the average range of brain size for an organism brain size abnormalities MPheno.ontology MP:0000771 abnormal brain size MP:0000771 deviation from the average range of brain size for an organism https://orcid.org/0000-0003-3691-0324 true MP:0000772 true MP:0000773 smaller appearance of the brain MP:0000772 micrencephaly microencephaly reduced brain size small brain smaller brain size MPheno.ontology MP:0000774 decreased brain size MP:0000774 smaller appearance of the brain PMID:8837770 true MP:0000775 any structural anomaly of the paired inferior eminence of the mesencephalic tectum that is involved in preliminary visual processing, and control of eye movements MP:0000902 abnormal corpora quadrigeminum posterius morphology abnormal inferior nasal colliculus morphology abnormal posterior quadrigeminal body morphology inferior colliculus dysplasia MPheno.ontology MP:0000776 abnormal inferior colliculus morphology MP:0000776 any structural anomaly of the paired inferior eminence of the mesencephalic tectum that is involved in preliminary visual processing, and control of eye movements ISBN:0-683-40008-8 enlargement of the paired inferior eminence of the mesencephalic tectum MP:0000903 increased corpora quadrigeminum posterius size increased inferior nasal colliculus size increased posterior quadrigeminal body size increased size of inferior colliculus MPheno.ontology MP:0000777 increased inferior colliculus size MP:0000777 enlargement of the paired inferior eminence of the mesencephalic tectum ISBN:0-683-40008-8 J:57538 any structural anomaly in the structure of any bundle of myelinated nerve fibers following a defined path through the brain and/or spinal cord abnormal tract MPheno.ontology MP:0000778 abnormal nervous system tract morphology MP:0000778 any structural anomaly in the structure of any bundle of myelinated nerve fibers following a defined path through the brain and/or spinal cord https://orcid.org/0000-0002-0371-1954 OBSOLETE. MP:0002183 MPheno.ontology MP:0000779 obsolete gliosis of tract true MP:0000779 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres corpus callosum dysplasia MPheno.ontology MP:0000780 abnormal corpus callosum morphology MP:0000780 any structural anomaly of a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 smaller thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres decreased size of corpus callosum reduced corpus callosum size reduced size of corpus callosum MPheno.ontology MP:0000781 decreased corpus callosum size MP:0000781 smaller thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres ISBN:0-683-40008-8 true MP:0000782 any structural anomaly of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) abnormal prosencephalon morphology forebrain dysplasia MPheno.ontology MP:0000783 abnormal forebrain morphology MP:0000783 any structural anomaly of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) GO:0048853 decrease in the number of normal cells in normal arrangement in the forebrain, typically resulting in decreased size hypoplastic forebrain prosencephalon hypoplasia MPheno.ontology MP:0000784 forebrain hypoplasia MP:0000784 decrease in the number of normal cells in normal arrangement in the forebrain, typically resulting in decreased size GO:0048853 decrease in the number of normal cells in normal arrangement in the telencephalon, typically resulting in decreased size hypoplastic telencephalon MPheno.ontology MP:0000785 telencephalon hypoplasia MP:0000785 decrease in the number of normal cells in normal arrangement in the telencephalon, typically resulting in decreased size ISBN:0-683-40008-8 PMID:9362461 abnormal or arrest of differentiation or patterning of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells MPheno.ontology MP:0000786 abnormal embryonic neuroepithelial layer differentiation MP:0000786 abnormal or arrest of differentiation or patterning of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells PMID:9362461 any structural anomaly of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures, and is considered to be the seat of conscious mental processes; it develops from the anterior-most embryological division of the brain that develops from the prosencephalon MP:0000782 telencephalon dysplasia MPheno.ontology MP:0000787 abnormal telencephalon morphology MP:0000787 any structural anomaly of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures, and is considered to be the seat of conscious mental processes; it develops from the anterior-most embryological division of the brain that develops from the prosencephalon https://orcid.org/0000-0002-6490-7723 any structural anomaly of thin layer of grey matter on the surface of the cerebral hemisphere that folds into gyri; it is responsible for intellectual faculties and higher mental functions abnormal pallium morphology cerebral cortex dysplasia pallium dysplasia MPheno.ontology MP:0000788 abnormal cerebral cortex morphology MP:0000788 any structural anomaly of thin layer of grey matter on the surface of the cerebral hemisphere that folds into gyri; it is responsible for intellectual faculties and higher mental functions MESH:A08.186.211.730.885.287.500 increased depth of the mantle covering the surface of the cerebral hemispheres MPheno.ontology MP:0000789 thickened cerebral cortex MP:0000789 increased depth of the mantle covering the surface of the cerebral hemispheres ISBN:0-683-40008-8 abnormal formation or pattern of the layers of the cerebral cortex abnormal cerebral cortex stratification abnormal stratification in neocortex MPheno.ontology MP:0000790 abnormal stratification in cerebral cortex MP:0000790 abnormal formation or pattern of the layers of the cerebral cortex J:64289 https://orcid.org/0000-0003-3691-0324 splitting of the layers of the grey cellular mantle covering the surface of the brain delaminated neocortex MPheno.ontology MP:0000791 delaminated cerebral cortex MP:0000791 splitting of the layers of the grey cellular mantle covering the surface of the brain ISBN:0-683-40008-8 PMID:9010203 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the developing superficial cortical layer located just under the pia matter abnormal MZ morphology cortical marginal zone dysplasia MPheno.ontology MP:0000792 abnormal cortical marginal zone morphology MP:0000792 any structural anomaly of the developing superficial cortical layer located just under the pia matter PMID:1812236 https://orcid.org/0000-0003-3691-0324 true MP:0000793 any structural anomaly of the upper central part of the cerebral hemisphere parietal lobe dysplasia MPheno.ontology MP:0000794 abnormal parietal lobe morphology MP:0000794 any structural anomaly of the upper central part of the cerebral hemisphere MESH:A08.186.211.730.885.287.500.670 any structural anomaly of the area of the parietal lobe that receives general sensation from the body postcentral gyrus dysplasia MPheno.ontology MP:0000795 abnormal postcentral gyrus morphology MP:0000795 any structural anomaly of the area of the parietal lobe that receives general sensation from the body https://orcid.org/0000-0003-3691-0324 any structural anomaly of the area of the parietal lobe that integrates tactile and visual stimuli sensory dissociation area dysplasia MPheno.ontology MP:0000796 abnormal sensory dissociation area morphology MP:0000796 any structural anomaly of the area of the parietal lobe that integrates tactile and visual stimuli https://orcid.org/0000-0003-3691-0324 any structural anomaly of the area of the frontal lobe that is involved in perception based on sensory stimuli supramarginal gyrus dysplasia MPheno.ontology MP:0000797 abnormal supramarginal gyrus morphology MP:0000797 any structural anomaly of the area of the frontal lobe that is involved in perception based on sensory stimuli https://orcid.org/0000-0003-3691-0324 any structural anomaly of the anterior part of the cerebral hemisphere frontal lobe dysplasia MPheno.ontology MP:0000798 abnormal frontal lobe morphology MP:0000798 any structural anomaly of the anterior part of the cerebral hemisphere MESH:A08.186.211.730.885.287.500.270 any structural anomaly of the area of the frontal lobe that contains the cell bodies of the primary motor pathways abnormal primary motor area morphology precentral gyrus dysplasia MPheno.ontology MP:0000799 abnormal precentral gyrus morphology MP:0000799 any structural anomaly of the area of the frontal lobe that contains the cell bodies of the primary motor pathways https://orcid.org/0000-0003-3691-0324 any structural anomaly of the area of the frontal lobe that is involved with integration of voluntary movements and with speech abnormal prefrontal gyrus morphology abnormal supplementary motor/speech area morphology prefrontal gyrus dysplasia MPheno.ontology MP:0000800 abnormal supplemetal motor cortex morphology MP:0000800 any structural anomaly of the area of the frontal lobe that is involved with integration of voluntary movements and with speech https://orcid.org/0000-0003-3691-0324 any structural anomaly of the lower lateral part of the cerebral hemisphere temporal lobe dysplasia MPheno.ontology MP:0000801 abnormal temporal lobe morphology MP:0000801 any structural anomaly of the lower lateral part of the cerebral hemisphere MESH:A08.186.211.730.885.287.500.863 any structural anomaly of one of three major convolutions of the external surface of the temporal lobe of the cerebral hemispheres that is uppermost and borders the lateral (sylvian) fissure, and contains the primary auditory cortex abnormal first temporal convolution morphology abnormal gyrus temporalis superior morphology abnormal superior temporal convolution morphology superior temporal gyrus dysplasia MPheno.ontology MP:0000802 abnormal superior temporal gyrus morphology MP:0000802 any structural anomaly of one of three major convolutions of the external surface of the temporal lobe of the cerebral hemispheres that is uppermost and borders the lateral (sylvian) fissure, and contains the primary auditory cortex ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the area of the temporal lobe concerned with hearing abnormal primary auditory area morphology transverse gyrus of Heschl dysplasia MPheno.ontology MP:0000803 abnormal transverse gyrus of Heschl morphology MP:0000803 any structural anomaly of the area of the temporal lobe concerned with hearing https://orcid.org/0000-0003-3691-0324 any structural anomaly of the posterior part of the cerebral hemisphere occipital lobe dysplasia MPheno.ontology MP:0000804 abnormal occipital lobe morphology MP:0000804 any structural anomaly of the posterior part of the cerebral hemisphere MESH:A08.186.211.730.885.287.500.571 any structural anomaly of the area of the occipital cortex concerned with vision abnormal striate cortex morphology striate cortex dysplasia visual cortex dysplasia MPheno.ontology MP:0000805 abnormal visual cortex morphology MP:0000805 any structural anomaly of the area of the occipital cortex concerned with vision MESH:A08.186.211.730.885.287.500.571.735 true MP:0000806 any structural anomaly of the deep lying structure of the cerebrum involved with memory storage and spatial navigation MP:0000806 MP:0000810 abnormal hippocampal region abnormal hippocampus abnormal hippocampus region hippocampal defects hippocampus dysplasia MPheno.ontology abnormal hippocampal formation morphology MP:0000807 The synonym abnormal hippocampal formation is a frequently used synonym in the literature for the hippocampus. It is unfortunate that it implies a developmental process. There is also a lack of consensus relating to terms describing the hippocampus and/or the adjacent cerebral cortex with the term hippocampus sometimes referring to the hippocampal formation (or region) and sometimes only to the Ammon gyrus (Ammon's horn). In this ontology, we have used hippocampus to mean the entire formation (region). abnormal hippocampus morphology MP:0000807 any structural anomaly of the deep lying structure of the cerebrum involved with memory storage and spatial navigation ISBN:0-12-402035-6 PMID:9010203 https://orcid.org/0000-0003-3691-0324 improper differentiation of the hippocampus abnormal hippocampal development hippocampal dysgenesis MPheno.ontology MP:0000808 abnormal hippocampus development MP:0000808 improper differentiation of the hippocampus MGI:tc missing convoluted brain structure below the cerebral hemispheres; forms part of the limbic system absence of hippocampus MPheno.ontology MP:0000809 absent hippocampus MP:0000809 missing convoluted brain structure below the cerebral hemispheres; forms part of the limbic system ISBN:0-683-40008-8 PMID:10631168 true MP:0000810 a retrogressive impairment of function or destruction of the neuronal cells in the hippocampus degenerating hippocampal neurons MPheno.ontology MP:0000811 hippocampal neuron degeneration MP:0000811 a retrogressive impairment of function or destruction of the neuronal cells in the hippocampus J:72427 MGI:cml any structural anomaly of one of two interlocking gyri of the hippocampus formation that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus abnormal area dentata morphology abnormal dentate gyrus of hippocampal formation morphology abnormal fascia dentata morphology dentate gyrus dysplasia MPheno.ontology MP:0000812 abnormal dentate gyrus morphology MP:0000812 any structural anomaly of one of two interlocking gyri of the hippocampus formation that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus ISBN:0-683-40008-8 PMID:9010203 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the layers of the laminar structure of the hippocampus abnormal hippocampal laminar structure abnormal laminar structure of hippocampus MPheno.ontology MP:0000813 abnormal hippocampus layer morphology MP:0000813 any structural anomaly of the layers of the laminar structure of the hippocampus ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 lack of the section of the hippocampus normally situated above the gyrus hippocampi and composed of three layers, the molecular, granular, and polymorphic layers absence of dentate gyrus MPheno.ontology MP:0000814 absent dentate gyrus MP:0000814 lack of the section of the hippocampus normally situated above the gyrus hippocampi and composed of three layers, the molecular, granular, and polymorphic layers ISBN:0-683-40008-8 PMID:10631168 any structural anomaly of one or both of the two interlocking gyri of the hippocampus formation; a circonvolution of rhinencephalon, the grey substance of which is rich in big pyramidal neuronal cells abnormal CA abnormal Ammon horn morphology abnormal Ammon's horn morphology abnormal Cornu Ammonis morphology abnormal hippocampus proper morphology Ammon gyrus dysplasia MPheno.ontology MP:0000815 abnormal Ammon gyrus morphology MP:0000815 any structural anomaly of one or both of the two interlocking gyri of the hippocampus formation; a circonvolution of rhinencephalon, the grey substance of which is rich in big pyramidal neuronal cells ISBN:0-683-40008-8 OBSOLETE. MP:0008286 abnormal hippocampal molecular layer MPheno.ontology MP:0000816 obsolete abnormal hippocampal molecular layer morphology true MP:0000816 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0000817 any structural anomaly of the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe; this area is involved in aggression and fear responses abnormal amygdaloid area morphology abnormal amygdaloid body morphology abnormal amygdaloid complex morphology abnormal amygdaloid nuclear complex morphology abnormal amygdaloid nuclear group morphology abnormal amygdaloid nucleus morphology amygdala dysplasia MPheno.ontology MP:0000818 abnormal amygdala morphology MP:0000818 any structural anomaly of the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe; this area is involved in aggression and fear responses ISBN:0-683-40008-8 MESH:A08.186.211.577.090 any structural anomaly of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex MP:0000943 MA:0000194 abnormal olfactory bulb MPheno.ontology MP:0000819 abnormal olfactory bulb morphology MP:0000819 any structural anomaly of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex ISBN:0-683-40008-8 ISBN:0838580343 any structural anomaly of the infoldings of blood vessels of the pia mater covered by a thin coat of ependymal cells that form tufted projections into the third, fourth, and lateral ventricles of the brain; choroid plexuses secrete cerebrospinal fluid (CSF) and act as a filtration system, removing metabolic waste, foreign substances, and excess neurotransmitters from the CSF choroid plexus dysplasia MPheno.ontology MP:0000820 abnormal choroid plexus morphology MP:0000820 any structural anomaly of the infoldings of blood vessels of the pia mater covered by a thin coat of ependymal cells that form tufted projections into the third, fourth, and lateral ventricles of the brain; choroid plexuses secrete cerebrospinal fluid (CSF) and act as a filtration system, removing metabolic waste, foreign substances, and excess neurotransmitters from the CSF ISBN:0-683-40008-8 PMID:9362461 http://medical-dictionary.thefreedictionary.com/plexus https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the choroid plexus, typically resulting in increased size hyperplastic choroid plexus MPheno.ontology MP:0000821 choroid plexus hyperplasia MP:0000821 increase in the number of normal cells in normal arrangement in the choroid plexus, typically resulting in increased size ISBN:0-683-40008-8 PMID:9753320 http://medical-dictionary.thefreedictionary.com/plexus https://orcid.org/0000-0003-3691-0324 any structural anomaly of the system of four communicating cavities within the brain that are continuous with the central canal of the spinal cord abnormal ventricle abnormal cerebral ventricle morphology brain ventricle dysplasia MPheno.ontology MP:0000822 abnormal brain ventricle morphology MP:0000822 any structural anomaly of the system of four communicating cavities within the brain that are continuous with the central canal of the spinal cord ISBN:0-683-40008-8 any structural anomaly of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle abnormal lateral ventricles abnormal ventricle of cerebral hemisphere morphology abnormal ventriculus lateralis morphology lateral ventricle dysplasia MPheno.ontology MP:0000823 abnormal lateral ventricle morphology MP:0000823 any structural anomaly of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle MESH:A08.186.211.276.650 MGI:cwg true MP:0000824 the luminal space of one or both lateral ventricles is increased in volume or area, usually with an increase in contained fluid MP:0000824 dilated lateral ventricles dilated telencephalic ventricle dilated telencephalic ventricles dilated ventricle of cerebral hemisphere dilated ventriculus lateralis lateral ventricle dilation telencephalic ventricle dilation ventriculus lateralis dilation MPheno.ontology MP:0000825 dilated lateral ventricle MP:0000825 the luminal space of one or both lateral ventricles is increased in volume or area, usually with an increase in contained fluid ISBN:0-683-40008-8 MESH:A08.186.211.276.650 PMID:9010203 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina abnormal 3rd ventricle morphology abnormal ventriculus tertius morphology third ventricle dysplasia MPheno.ontology MP:0000826 abnormal third ventricle morphology MP:0000826 any structural anomaly of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina MESH:A08.186.211.276.840 MGI:cwg the luminal space of the third ventricle is increased in volume or area, usually with an increase in contained fluid, in the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina 3rd ventricle dilation dilated 3rd ventricle dilated third ventricles dilated ventricle of diencephalon dilated ventriculus tertius ventriculus tertius dilation MPheno.ontology third ventricle dilation MP:0000827 dilated third ventricle MP:0000827 the luminal space of the third ventricle is increased in volume or area, usually with an increase in contained fluid, in the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina MESH:A08.186.211.276.840 MGI:cwg any structural anomaly of the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space abnormal 4th ventricle morphology abnormal IVth ventricle morphology abnormal rhombencephalic ventricle morphology abnormal ventricle of rhombencephalon morphology abnormal ventriculus quartus morphology fourth ventricle dysplasia MPheno.ontology MP:0000828 abnormal fourth ventricle morphology MP:0000828 any structural anomaly of the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space MESH:A08.186.211.276.500 MGI:cwg the luminal space of the fourth ventricle is increased in volume or area, usually with an increase in contained fluid, in the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space 4th ventricle dilation IVth ventricle dilation dilated 4th ventricle dilated 4th ventricles dilated IVth ventricle dilated IVth ventricles dilated fourth ventricles dilated rhombencephalic ventricle dilated rhombencephalic ventricles dilated ventricle of rhombencephalon dilated ventriculus quartus fourth ventricle dilation rhombencephalic ventricle dilation ventriculus quartus dilation MPheno.ontology MP:0000829 dilated fourth ventricle MP:0000829 the luminal space of the fourth ventricle is increased in volume or area, usually with an increase in contained fluid, in the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space MESH:A08.186.211.276.500 MGI:cwg any structural anomaly of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex abnormal betweenbrain morphology abnormal interbrain morphology abnormal thalamencephalon morphology diencephalon dysplasia MPheno.ontology MP:0000830 abnormal diencephalon morphology MP:0000830 any structural anomaly of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex ISBN:0838580343 MESH:A08.186.211.730.317 increase in the number of normal cells in normal arrangement in the diencephalon, typically resulting in increased size betweenbrain hyperplasia hyperplastic diencephalon thalamencephalon hyperplasia MPheno.ontology interbrain hyperplasia MP:0000831 diencephalon hyperplasia MP:0000831 increase in the number of normal cells in normal arrangement in the diencephalon, typically resulting in increased size ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the large ovoid mass of paired bodies containing mostly grey matter and forming part of the lateral wall of the third ventricle of the brain thalamus dysplasia MPheno.ontology MP:0000832 abnormal thalamus morphology MP:0000832 any structural anomaly of the large ovoid mass of paired bodies containing mostly grey matter and forming part of the lateral wall of the third ventricle of the brain ISBN:0-683-40008-8 MESH:A08.186.211.730.317.826 increase in the number of normal cells in normal arrangement in the thalamus, typically resulting in increased size hyperplastic thalamus MPheno.ontology MP:0000833 thalamus hyperplasia MP:0000833 increase in the number of normal cells in normal arrangement in the thalamus, typically resulting in increased size ISBN:0-683-40008-8 any structural anomaly of the anterior part of the diencephalon that lies between the thalamus, hypothalamus, and tegmentum of the mesencephalon, including subthalamic nucleus, zona incerta, the fields of Forel, and the nucleus of ansa lenticularis abnormal ventral thalamus subthalamus dysplasia ventral thalamus dysplasia MPheno.ontology MP:0000834 abnormal subthalamus morphology MP:0000834 any structural anomaly of the anterior part of the diencephalon that lies between the thalamus, hypothalamus, and tegmentum of the mesencephalon, including subthalamic nucleus, zona incerta, the fields of Forel, and the nucleus of ansa lenticularis ISBN:0-683-40008-8 MESH:A08.186.211.730.317.800 any structural anomaly of the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function abnormal corpus luysi morphology subthalamic nucleus dysplasia MPheno.ontology MP:0000835 abnormal subthalamic nucleus morphology MP:0000835 any structural anomaly of the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function ISBN:0-683-40008-8 MESH:A08.186.211.730.317.800.800 any structural anomaly of the layer of grey substance that separates the posterior parts of the cerebral peduncles (tegmentum mesencephali) from the anterior parts; it normally includes a posterior compact part with many pigmented cells (pars compacta) and an anterior reticular part whose cells contain little pigment (pars reticularis) abnormal locus niger morphology abnormal nucleus niger morphology substantia nigra dysplasia MPheno.ontology MP:0000836 abnormal substantia nigra morphology MP:0000836 any structural anomaly of the layer of grey substance that separates the posterior parts of the cerebral peduncles (tegmentum mesencephali) from the anterior parts; it normally includes a posterior compact part with many pigmented cells (pars compacta) and an anterior reticular part whose cells contain little pigment (pars reticularis) ISBN:0-683-40008-8 MGI:cwg any structural anomaly of the ventral part of the diencephalon extending from the region of the optic chiasm to the caudal border of the mammillary bodies and forming the inferior and lateral walls of the third ventricle; this region regulates the autonomic nervous system via hormone production and release hypothalamus dysplasia MPheno.ontology MP:0000837 abnormal hypothalamus morphology MP:0000837 any structural anomaly of the ventral part of the diencephalon extending from the region of the optic chiasm to the caudal border of the mammillary bodies and forming the inferior and lateral walls of the third ventricle; this region regulates the autonomic nervous system via hormone production and release MESH:A08.186.211.464.482 OBSOLETE. MPheno.ontology MP:0000838 obsolete abnormal pituitary afferents true MP:0000838 OBSOLETE. https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the hypothalamus, typically resulting in increased size hyperplastic hypothalamus MPheno.ontology MP:0000839 hypothalamus hyperplasia MP:0000839 increase in the number of normal cells in normal arrangement in the hypothalamus, typically resulting in increased size ISBN:0-683-40008-8 PMID:9753320 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the small dorsomedial area of the thalamus including the habenular nuclei and associated fiber bundles, the pineal body, and the epithelial roof of the third ventricle epithalamus dysplasia MPheno.ontology MP:0000840 abnormal epithalamus morphology MP:0000840 any structural anomaly of the small dorsomedial area of the thalamus including the habenular nuclei and associated fiber bundles, the pineal body, and the epithelial roof of the third ventricle ISBN:0-683-40008-8 MESH:A08.186.211.464.200 any structural anomaly of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived; the metencephalon (anterior part of the embryonic hindbrain), gives rise to the cerebellum and pons while the myelencephalon (posterior portion of the embryonic hindbrain) gives rise to the medulla oblongata hindbrain dysplasia MPheno.ontology abnormal rhombencephalon morphology MP:0000841 abnormal hindbrain morphology MP:0000841 any structural anomaly of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived; the metencephalon (anterior part of the embryonic hindbrain), gives rise to the cerebellum and pons while the myelencephalon (posterior portion of the embryonic hindbrain) gives rise to the medulla oblongata https://orcid.org/0000-0002-6490-7723 missing nucleus of neurons on the dorsal part of the lateral surface of the pons; it normally receives projection fibers from the cochlear nuclei and is prominently involved in spatial localization of sound absent nucleus of superior olivary complex MPheno.ontology MP:0000842 absent superior olivary complex nucleus MP:0000842 missing nucleus of neurons on the dorsal part of the lateral surface of the pons; it normally receives projection fibers from the cochlear nuclei and is prominently involved in spatial localization of sound ISBN:0-683-40008-8 PMID:1346922 missing nucleus of neurons in the hindbrain; receives fibers from the facial muscles, stapedus muscle and stylohyoid muscle MPheno.ontology MP:0000843 absent facial nuclei MP:0000843 missing nucleus of neurons in the hindbrain; receives fibers from the facial muscles, stapedus muscle and stylohyoid muscle ISBN:0-683-40008-8 PMID:1346922 any structural anomaly of the dorsally concave bend of the embryonic rhombencephalon that produces a thinning of the roof of the pons and medulla oblongata and defines the boundary between the metencephalon and myelencephalon in the embryo abnormal (embryonic) hindbrain flexure morphology abnormal basicranial flexure morphology abnormal pontal flexure morphology abnormal transverse rhombencephalic flexure morphology MPheno.ontology MP:0000844 abnormal pontine flexure morphology MP:0000844 any structural anomaly of the dorsally concave bend of the embryonic rhombencephalon that produces a thinning of the roof of the pons and medulla oblongata and defines the boundary between the metencephalon and myelencephalon in the embryo https://orcid.org/0000-0002-6490-7723 true MP:0000845 any structural anomaly in the most caudal region of the brainstem that lies directly rostral to the spinal cord; includes regions responsible for autonomic functions such as digestion, breathing and control of heart rate MP:0000845 abnormal myelencephalon morphology medulla oblongata dysplasia myelencephalon dysplasia MPheno.ontology MP:0000846 abnormal medulla oblongata morphology MP:0000846 any structural anomaly in the most caudal region of the brainstem that lies directly rostral to the spinal cord; includes regions responsible for autonomic functions such as digestion, breathing and control of heart rate ISBN:0838580343 any structural anomaly of the anterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the cerebellum and the pons Varolii abnormal anterior hindbrain morphology abnormal anterior rhombencephalon morphology abnormal epencephalon morphology abnormal rostral hindbrain morphology abnormal rostral rhombencephalon morphology metencephalon dysplasia MPheno.ontology MP:0000847 abnormal metencephalon morphology MP:0000847 any structural anomaly of the anterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the cerebellum and the pons Varolii https://orcid.org/0000-0002-6490-7723 any structural anomaly of the band of nerve fibers in the brain connecting the medulla oblongata and the mesencephalon; this region conveys information about movement from the cerebral hemisphere to the cerebellum abnormal pons Varolii morphology pons dysplasia MPheno.ontology MP:0000848 abnormal pons morphology MP:0000848 any structural anomaly of the band of nerve fibers in the brain connecting the medulla oblongata and the mesencephalon; this region conveys information about movement from the cerebral hemisphere to the cerebellum ISBN:0-683-40008-8 ISBN:0838580343 PMID:1346922 any structural anomaly of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills cerebellar dysplasia cerebellum dysplasia MPheno.ontology MP:0000849 abnormal cerebellum morphology MP:0000849 any structural anomaly of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills ISBN:0838580343 PMID:9778510 missing the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement absence of cerebellum MPheno.ontology MP:0000850 absent cerebellum MP:0000850 missing the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement ISBN:0-683-40008-8 PMID:7925010 decrease in the number of normal cells in normal arrangement in the cerebellum, typically resulting in decreased size cerebellar hypoplasia hypoplastic cerebellum reduced cerebellum cellularity MPheno.ontology MP:0000851 cerebellum hypoplasia MP:0000851 decrease in the number of normal cells in normal arrangement in the cerebellum, typically resulting in decreased size PMID:9362461 https://orcid.org/0000-0003-3691-0324 reduced size of cerebellum decreased cerebellum size reduced cerebellum size MPheno.ontology MP:0000852 small cerebellum MP:0000852 reduced size of cerebellum https://orcid.org/0000-0003-3691-0324 missing small branches of the cerebellar lobules absence of cerebellum foliation lack of cerebellar foliation lack of cerebellum foliation loss of cerebellar foliation loss of cerebellum foliation MPheno.ontology MP:0000853 absent cerebellar foliation MP:0000853 missing small branches of the cerebellar lobules ISBN:0838580343 MGI:tc PMID:10716451 aberrant or incomplete differentiation of the part of the metencephalon that lies dorsal to the pons and medulla behind the brain stem and controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills abnormal cerebellar development MPheno.ontology MP:0000854 abnormal cerebellum development MP:0000854 aberrant or incomplete differentiation of the part of the metencephalon that lies dorsal to the pons and medulla behind the brain stem and controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills ISBN:0-683-40008-8 formation of the major fissures of the cerebellum earlier in development than normal MPheno.ontology MP:0000855 accelerated formation of intralobular fissures MP:0000855 formation of the major fissures of the cerebellum earlier in development than normal J:56546 any structural anomaly of the embryonic pseudostratified epithelium of the fourth cerebellar ventricle that eventually forms the vermis and ventral neuroepithelium cerebellar plate dysplasia MPheno.ontology MP:0000856 abnormal cerebellar plate morphology MP:0000856 any structural anomaly of the embryonic pseudostratified epithelium of the fourth cerebellar ventricle that eventually forms the vermis and ventral neuroepithelium PMID:9362461 any anomaly of the pattern of the ten cerebellar lobules; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres and the intermediate zone that separates the vermis from the lateral hemispheres; in addition, each of the ten basic lobules can be subdivided into sublobules but strain and species differences are reported MPheno.ontology MP:0000857 abnormal cerebellar foliation MP:0000857 any anomaly of the pattern of the ten cerebellar lobules; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres and the intermediate zone that separates the vermis from the lateral hemispheres; in addition, each of the ten basic lobules can be subdivided into sublobules but strain and species differences are reported ISBN:0838580343 PMID:17506688 altered likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it alteration in metastasis potential altered metastatic potential change in metastasis potential change in potential to develop metastases MPheno.ontology MP:0000858 abnormal metastatic potential MP:0000858 altered likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the area of the parietal lobe that lies posterior to the central sulcus and is concerned with receiving and processing general sensations from the body surface abnormal somatic sensory cortex morphology abnormal somesthetic area morphology somatosensory cortex dysplasia MPheno.ontology MP:0000859 abnormal somatosensory cortex morphology MP:0000859 any structural anomaly of the area of the parietal lobe that lies posterior to the central sulcus and is concerned with receiving and processing general sensations from the body surface ISBN:0-683-40008-8 MESH:A08.186.211.730.885.287.500.670.675 any structural anomaly of the area of the postcentral gyrus and central sulcus that is involved in somatic sensation abnormal primary somatic sensory cortex morphology MPheno.ontology MP:0000860 abnormal primary somatosensory cortex morphology MP:0000860 any structural anomaly of the area of the postcentral gyrus and central sulcus that is involved in somatic sensation ISBN:0838580343 derangement of the pattern of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae disorganised barrel cortex MPheno.ontology MP:0000861 disorganized barrel cortex MP:0000861 derangement of the pattern of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae ISBN:0838580343 J:64064 missing pattern of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae absence of barrels in primary somatosensory cortex MPheno.ontology MP:0000862 absent barrels in primary somatosensory cortex MP:0000862 missing pattern of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae ISBN:0838580343 any structural anomaly of the area of the upper bank of the lateral sulcus that is involved in somatic sensation abnormal secondary somatic sensory cortex morphology MPheno.ontology MP:0000863 abnormal secondary somatosensory cortex morphology MP:0000863 any structural anomaly of the area of the upper bank of the lateral sulcus that is involved in somatic sensation ISBN:0838580343 any structural anomaly of the narrow medial zone between the two hemispheres of the cerebellum that is delimited by two longitudinal furrows; it may be continuous with the cerebellar hemispheres in some areas of the cerebellum, e.g., dorsally, or separated by deeper fissues in others (e.g., ventrally); it receives inputs from the spinocerebellar tracts which carry to the vermis information on the position and balance of the torso, and it sends projections to the fastigial nucleus of the cerebellum, which then sends output to the vestibular nuclei MA:0000202 abnormal cerebellar vermis morphology abnormal spinocerebellum morphology vermis part abnormal vermis morphology cerebellum vermis dysplasia MPheno.ontology MP:0000864 abnormal cerebellum vermis morphology MP:0000864 any structural anomaly of the narrow medial zone between the two hemispheres of the cerebellum that is delimited by two longitudinal furrows; it may be continuous with the cerebellar hemispheres in some areas of the cerebellum, e.g., dorsally, or separated by deeper fissues in others (e.g., ventrally); it receives inputs from the spinocerebellar tracts which carry to the vermis information on the position and balance of the torso, and it sends projections to the fastigial nucleus of the cerebellum, which then sends output to the vestibular nuclei ISBN:0-683-40008-8 ISBN:0838580343 NLX:birnlex_1106 PMID:10742104 missing narrow middle zone between the two hemispheres of the cerebellum MPheno.ontology absent spinocerebellum morphology vermis part absent vermis MP:0000865 absent cerebellum vermis MP:0000865 missing narrow middle zone between the two hemispheres of the cerebellum ISBN:0-683-40008-8 PMID:9362461 decrease in the number of normal cells in normal arrangement in the cerebellum vermis, typically resulting in decreased size cerebellar vermal hypoplasia cerebellar vermis hypoplasia hypoplastic cerebellar vermis hypoplastic cerebellum vermis hypoplastic vermis vermis hypoplasia MPheno.ontology MP:0000866 cerebellum vermis hypoplasia MP:0000866 decrease in the number of normal cells in normal arrangement in the cerebellum vermis, typically resulting in decreased size PMID:10742104 any structural anomaly of the anterior portion of the narrow middle zone between the two hemispheres of the cerebellum that is located anterior to the primary fissure abnormal anterior vermis morphology abnormal rostral vermis morphology cerebellum anterior vermis dysplasia MPheno.ontology MP:0000867 abnormal cerebellum anterior vermis morphology MP:0000867 any structural anomaly of the anterior portion of the narrow middle zone between the two hemispheres of the cerebellum that is located anterior to the primary fissure ISBN:0-683-40008-8 smaller appearance of the narrow middle zone between the two hemispheres of the anterior lobe of the cerebellum decreased size of anterior vermis reduced anterior vermis size small anterior vermis MPheno.ontology MP:0000868 decreased anterior vermis size MP:0000868 smaller appearance of the narrow middle zone between the two hemispheres of the anterior lobe of the cerebellum ISBN:0-683-40008-8 any structural anomaly of the posterior portion of the narrow middle zone between the two hemispheres of the cerebellum that is located posterior to the primary fissure abnormal caudal vermis morphology abnormal inferior vermis morphology abnormal posterior vermis morphology cerebellum posterior vermis dysplasia MPheno.ontology MP:0000869 abnormal cerebellum posterior vermis morphology MP:0000869 any structural anomaly of the posterior portion of the narrow middle zone between the two hemispheres of the cerebellum that is located posterior to the primary fissure ISBN:0-683-40008-8 PMID:10742104 missing part of the inferior vermis of the cerebellum (vermis lobule VIII) absence of vermal pyramis absent cerebellar pyramid absent pyramid of vermis absent pyramis of cerebellum absent vermal pyramis MPheno.ontology MP:0000870 absent cerebellum vermis lobule VIII MP:0000870 missing part of the inferior vermis of the cerebellum (vermis lobule VIII) ISBN:0-683-40008-8 PMID:10742104 missing triangular elevation on the vermis of the cerebellum absence of vermal uvula absent vermal uvula MPheno.ontology MP:0000871 absent cerebellum vermis lobule IX MP:0000871 missing triangular elevation on the vermis of the cerebellum ISBN:0-683-40008-8 PMID:10742104 any structural anomaly of the transient layer of the cerebellar cortex present during development which is composed of the dividing and migrating granule cells abnormal EGL abnormal external granule cell layer morphology abnormal external germinal layer morphology abnormal external granule layer morphology MPheno.ontology MP:0000872 abnormal cerebellum external granule cell layer morphology MP:0000872 any structural anomaly of the transient layer of the cerebellar cortex present during development which is composed of the dividing and migrating granule cells MGI:tc reduced thickness of the transient layer of the cerebellar cortex present during development which is composed of dividing and migrating granule cells thin EGL thin external germinal layer thin external granule layer MPheno.ontology MP:0000873 thin external granule cell layer MP:0000873 reduced thickness of the transient layer of the cerebellar cortex present during development which is composed of dividing and migrating granule cells MGI:tc PMID:10716451 uneven thickness of the transient layer of the cerebellar cortex present during development which is composed of dividing and migrating granule cells irregular EGL irregular external germinal layer irregular external granule layer MPheno.ontology MP:0000874 irregular external granule cell layer thickness MP:0000874 uneven thickness of the transient layer of the cerebellar cortex present during development which is composed of dividing and migrating granule cells MGI:tc any structural anomaly of the cell layer that lies just underneath the molecular layer of the cerebellar cortex; it contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer, and candelabrum interneurons are vertically oriented between the Purkinje cells abnormal Purkinje cell layer MPheno.ontology MP:0000875 abnormal cerebellar Purkinje cell layer MP:0000875 any structural anomaly of the cell layer that lies just underneath the molecular layer of the cerebellar cortex; it contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer, and candelabrum interneurons are vertically oriented between the Purkinje cells ISBN:0-683-40008-8 a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex MPheno.ontology MP:0000876 Purkinje cell degeneration MP:0000876 a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex J:46854 any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells abnormal Purkinje cells abnormal Purkinje neuron morphology MPheno.ontology MP:0000877 abnormal Purkinje cell morphology MP:0000877 any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells ISBN:0838580343 different from average number of neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex MPheno.ontology MP:0000878 abnormal Purkinje cell number MP:0000878 different from average number of neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex ISBN:0-683-40008-8 greater than normal number of neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex MP:0000325 MPheno.ontology MP:0000879 increased Purkinje cell number MP:0000879 greater than normal number of neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex ISBN:0-683-40008-8 MGI:cwg fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex MP:0000337 reduced Purkinje cell number MPheno.ontology MP:0000880 decreased Purkinje cell number MP:0000880 fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex ISBN:0-683-40008-8 PMID:9362461 OBSOLETE. MPheno.ontology MP:0000881 obsolete Abnormal Purkinje Cell Size true MP:0000881 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0000882 obsolete Increased Purkinje Cell Size dup. true MP:0000882 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0000883 obsolete Decreased Purkinje Cell Size dup. true MP:0000883 OBSOLETE. https://orcid.org/0000-0003-3691-0324 splitting or disorganization of the layer of large neuron cell bodies between the molecular and granular layers of the cerebellum MPheno.ontology MP:0000884 delaminated Purkinje cell layer MP:0000884 splitting or disorganization of the layer of large neuron cell bodies between the molecular and granular layers of the cerebellum ISBN:0-683-40008-8 PMID:10742104 Purkinje cell body resides in places other than the Purkinje cell layer in the cerebellum heterotopic Purkinje cell MPheno.ontology MP:0000885 ectopic Purkinje cell MP:0000885 Purkinje cell body resides in places other than the Purkinje cell layer in the cerebellum MGI:tc PMID:10716451 any structural anomaly of the innermost cortical layer of the cerebellum; contains densely packed small neurons, mostly granule cells with some Golgi cells are found at the outer border abnormal IGL abnormal granule layer morphology abnormal internal granule cell layer morphology abnormal internal granule layer morphology MPheno.ontology MP:0000886 abnormal cerebellar granule layer morphology MP:0000886 any structural anomaly of the innermost cortical layer of the cerebellum; contains densely packed small neurons, mostly granule cells with some Golgi cells are found at the outer border ISBN:0-683-40008-8 ISBN:0838580343 splitting or disorganization of the deepest of the three layers of the cerebellum that contains granule cells delaminated IGL delaminated internal granule layer MPheno.ontology MP:0000887 delaminated cerebellar granule layer MP:0000887 splitting or disorganization of the deepest of the three layers of the cerebellum that contains granule cells ISBN:0-683-40008-8 PMID:10742104 absence of the innermost cortical layer of the cerebellum; contains densely packed small neurons, mostly granule cells with some Golgi cells are found at the outer border absent IGL absent internal granule layer MPheno.ontology MP:0000888 absent cerebellar granule layer MP:0000888 absence of the innermost cortical layer of the cerebellum; contains densely packed small neurons, mostly granule cells with some Golgi cells are found at the outer border ISBN:0-683-40008-8 ISBN:0838580343 any structural anomaly of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells abnormal molecular layer MPheno.ontology MP:0000889 abnormal cerebellar molecular layer MP:0000889 any structural anomaly of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells ISBN:0-683-40008-8 PMID:9010203 reduced width of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells decreased cerebellar molecular layer width MPheno.ontology MP:0000890 thin cerebellar molecular layer MP:0000890 reduced width of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells ISBN:0-683-40008-8 PMID:9010203 OBSOLETE. MPheno.ontology MP:0000891 obsolete Abnormal Thickness of Molecular Layer true MP:0000891 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0000892 obsolete Increased Thickness of Molecular Layer true MP:0000892 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0000893 obsolete Decreased Thickness of Molecular Layer true MP:0000893 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0000894 obsolete Abnormal Cell Number of Molecular Layer true MP:0000894 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0000895 obsolete Increased Cell Number of Molecular Layer true MP:0000895 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0000896 obsolete Decreased Cell Number of Molecular Layer true MP:0000896 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly associated with the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes abnormal mesencephalon morphology mesencephalon dysplasia midbrain dysplasia MPheno.ontology MP:0000897 abnormal midbrain morphology MP:0000897 any structural anomaly associated with the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes ISBN:0838580343 increase in the number of normal cells in normal arrangement in the brain region derived from the middle of the three cerebral vesicles of the embryo, typically resulting in increased size hyperplastic midbrain mesencephalon hyperplasia MPheno.ontology MP:0000898 midbrain hyperplasia MP:0000898 increase in the number of normal cells in normal arrangement in the brain region derived from the middle of the three cerebral vesicles of the embryo, typically resulting in increased size ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the inferior and superior colliculus abnormal colliculi morphology abnormal quadrigeminal body morphology corpora quadrigemina dysplasia MPheno.ontology abnormal colliculus morphology MP:0000899 abnormal corpora quadrigemina morphology MP:0000899 any structural anomaly of the inferior and superior colliculus PMID:9778510 smaller inferior and superior colliculus decreased size of colliculi reduced colliculi size reduced size of colliculi MPheno.ontology MP:0000900 decreased colliculi size MP:0000900 smaller inferior and superior colliculus ISBN:0-683-40008-8 PMID:7925010 positional abnormality of the inferior and superior colliculus altered position of colliculi MPheno.ontology MP:0000901 abnormal position of colliculi MP:0000901 positional abnormality of the inferior and superior colliculus J:57538 true MP:0000902 true MP:0000903 any structural anomaly of the paired superior eminence of the mesencephalic tectum that is involved in auditory processing abnormal anterior quadrigeminal body morphology abnormal corpora quadrigeminum posterius anterius morphology MPheno.ontology MP:0000904 abnormal superior colliculus morphology MP:0000904 any structural anomaly of the paired superior eminence of the mesencephalic tectum that is involved in auditory processing ISBN:0-683-40008-8 enlargement of the paired superior eminence of the mesencephalic tectum increased anterior quadrigeminal body size increased corpora quadrigeminum posterius anterius size increased size of superior colliculus MPheno.ontology MP:0000905 increased superior colliculus size MP:0000905 enlargement of the paired superior eminence of the mesencephalic tectum ISBN:0-683-40008-8 J:57538 any structural anomaly of the group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve MA:0001057 abnormal mesencephalic trigeminal nucleus morphology MPheno.ontology MP:0000906 abnormal trigeminal V mesencephalic nucleus morphology MP:0000906 any structural anomaly of the group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve ISBN:0-683-40008-8 reduced size of the group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve MPheno.ontology MP:0000907 small mesencephalic trigeminal nucleus MP:0000907 reduced size of the group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 missing group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve MPheno.ontology MP:0000908 absent mesencephalic trigeminal nucleus MP:0000908 missing group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve ISBN:0-683-40008-8 PMID:7958926 any structural anomaly of the group of motor neurons residing in the pons that innervate the muscles of facial expression abnormal motor nucleus, facial MPheno.ontology MP:0000909 abnormal facial motor nucleus morphology MP:0000909 any structural anomaly of the group of motor neurons residing in the pons that innervate the muscles of facial expression ISBN:0838580343 reduced size of the group of motor neurons residing in the pons that innervate the muscles of facial expression decreased facial motor nucleus size small motor nucleus, facial MPheno.ontology MP:0000910 small facial motor nucleus MP:0000910 reduced size of the group of motor neurons residing in the pons that innervate the muscles of facial expression ISBN:0838580343 J:56847 any structural anomaly of the group of motor neurons innervating the muscles of mastication abnormal motor nucleus, trigeminal morphology MPheno.ontology MP:0000911 abnormal trigeminal motor nucleus morphology MP:0000911 any structural anomaly of the group of motor neurons innervating the muscles of mastication ISBN:0-683-40008-8 reduced size of the group of motor neurons innervating the muscles of mastication decreased trigeminal motor nucleus size small motor nucleus, trigeminal MPheno.ontology MP:0000912 small trigeminal motor nucleus MP:0000912 reduced size of the group of motor neurons innervating the muscles of mastication ISBN:0-683-40008-8 J:18984 aberrant or incomplete differentiation of the brain MP:0001888 GO:0007420 brain development abnormalities MPheno.ontology MP:0000913 abnormal brain development MP:0000913 aberrant or incomplete differentiation of the brain PMID:9753320 https://orcid.org/0000-0003-3691-0324 neurocranial defects resulting in exposure or extrusion of the brain cranial hernia exencephalia MPheno.ontology MP:0000914 exencephaly MP:0000914 neurocranial defects resulting in exposure or extrusion of the brain ISBN:0-683-40008-8 PMID:9753320 true MP:0000915 true MP:0000916 hydrocephaly due to a block in cerebrospinal fluid flow in the ventricular system MP:0001892 non-communicating hydrocephalus non-communicating hydrocephaly noncommunicating hydrocephalus noncommunicating hydrocephaly obstructive hydrocephalus MPheno.ontology MP:0000917 obstructive hydrocephaly MP:0000917 hydrocephaly due to a block in cerebrospinal fluid flow in the ventricular system ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0000918 incomplete closure of the skull, usually congenital MPheno.ontology MP:0000919 cranioschisis MP:0000919 incomplete closure of the skull, usually congenital ISBN:0-683-40008-8 any anomaly in the process by which myelin sheaths are formed and maintained around neurons; oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane MP:0001894 MP:0010051 GO:0042552 altered myelination myelination abnormalities myelination defect absence of myelination absent myelination MPheno.ontology MP:0000920 abnormal myelination MP:0000920 any anomaly in the process by which myelin sheaths are formed and maintained around neurons; oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane GO:0042552 https://orcid.org/0000-0003-3691-0324 abnormal degeneration or destruction of the myelin sheath that results in the partial absence or patchy, incomplete area of a myelin sheath over all or part of an axon or fiber tract MP:0010049 myelin degeneration myelin destruction MPheno.ontology MP:0000921 Demyelination is a term used to describe the destruction of the myelin sheath that surrounds axonal fibres. This is caused by diseases that damage the myelin sheath or the cells that form it. demyelination MP:0000921 abnormal degeneration or destruction of the myelin sheath that results in the partial absence or patchy, incomplete area of a myelin sheath over all or part of an axon or fiber tract https://orcid.org/0000-0003-3691-0324 true MP:0000922 any structural anomaly of the single row of specialized glial cells that occupies the dorsal midline of the developing neural tube along the entire anterior-posterior axis; the roof plate serves as a critical embryonic signaling center for the organization of dorsal neuronal cell types, and acts as a barrier preventing axons and cells migrating across the dorsal midline roof plate abnormalities roof plate dysplasia MPheno.ontology MP:0000923 abnormal roof plate morphology MP:0000923 any structural anomaly of the single row of specialized glial cells that occupies the dorsal midline of the developing neural tube along the entire anterior-posterior axis; the roof plate serves as a critical embryonic signaling center for the organization of dorsal neuronal cell types, and acts as a barrier preventing axons and cells migrating across the dorsal midline https://orcid.org/0000-0002-6490-7723 absence of the single row of specialized glial cells that occupies the dorsal midline of the developing neural tube along the entire anterior-posterior axis; the roof plate serves as a critical embryonic signaling center for the organization of dorsal neuronal cell types, and acts as a barrier preventing axons and cells migrating across the dorsal midline absence of roof plate MPheno.ontology MP:0000924 absent roof plate MP:0000924 absence of the single row of specialized glial cells that occupies the dorsal midline of the developing neural tube along the entire anterior-posterior axis; the roof plate serves as a critical embryonic signaling center for the organization of dorsal neuronal cell types, and acts as a barrier preventing axons and cells migrating across the dorsal midline https://orcid.org/0000-0002-6490-7723 any structural anomaly of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube floor plate abnormalities abnormal floorplate morphology floor plate dysplasia MPheno.ontology MP:0000925 abnormal floor plate morphology MP:0000925 any structural anomaly of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube UBERON:0003079 absence of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube absent floorplate MPheno.ontology MP:0000926 absent floor plate MP:0000926 absence of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube UBERON:0003079 reduced size of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube decreased floor plate size reduced floor plate size small floorplate MPheno.ontology MP:0000927 small floor plate MP:0000927 reduced size of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube UBERON:0003079 arrest of the fusion of the cephalic neural folds incomplete head fold fusion incomplete anterior cephalic closure incomplete cephalic closure incomplete cranial neural fold fusion open anterior neuropore MPheno.ontology incomplete headfold fusion incomplete rostral neural tube closure MP:0000928 Head fold is properly used to describe the rostrally located, crescent shaped fold of the embryonic disc around the future foregut. However, it is often (and incorrectly) used as a synonym for the ventrally located cephalic neural folds. Take care to select the correct term. incomplete rostral neuropore closure MP:0000928 arrest of the fusion of the cephalic neural folds https://orcid.org/0000-0002-6490-7723 failure of completion of the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline MP:0000931 MP:0005436 spina bifida failure of neural tube closure hydrocele spinalis schistorrhachis MPheno.ontology MP:0000929 open neural tube MP:0000929 failure of completion of the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline J:62571 PMID:9949198 https://orcid.org/0000-0003-3691-0324 undulations in the embryonic neural tube MPheno.ontology MP:0000930 wavy neural tube MP:0000930 undulations in the embryonic neural tube J:37888 true MP:0000931 missing axial fibrocellular cord in embryos around which develops the vertebral primordia absence of notochord MPheno.ontology MP:0000932 absent notochord MP:0000932 missing axial fibrocellular cord in embryos around which develops the vertebral primordia ISBN:0-683-40008-8 any structural anomaly of any of the transiently divided segments of the developing neural tube of vertebrate embryos found within the hindbrain region in the area that will eventually become the rhombencephalon; the rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure abnormal rhombomeres rhombomere dysplasia MPheno.ontology MP:0000933 abnormal rhombomere morphology MP:0000933 any structural anomaly of any of the transiently divided segments of the developing neural tube of vertebrate embryos found within the hindbrain region in the area that will eventually become the rhombencephalon; the rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure ISBN:0-683-40008-8 PMID:1346922 UBERON:0001892 https://orcid.org/0000-0002-6490-7723 anomaly in the progression of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures, and is considered to be the seat of conscious mental processes; it develops from the anterior-most embryological division of the brain that develops from the prosencephalon MPheno.ontology MP:0000934 abnormal telencephalon development MP:0000934 anomaly in the progression of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures, and is considered to be the seat of conscious mental processes; it develops from the anterior-most embryological division of the brain that develops from the prosencephalon https://orcid.org/0000-0002-6490-7723 malformation of the stereotypic invaginations forming the paired diverticula of the telencephalon MPheno.ontology MP:0000935 abnormal folding of telencephalic vesicles MP:0000935 malformation of the stereotypic invaginations forming the paired diverticula of the telencephalon ISBN:0-683-40008-8 PMID:9753320 https://orcid.org/0000-0003-3691-0324 reduced size of the paired diverticula of the embryonic telencephalon, from which the forebrain develops small telencephalic vesicles MPheno.ontology MP:0000936 small embryonic telencephalon MP:0000936 reduced size of the paired diverticula of the embryonic telencephalon, from which the forebrain develops ISBN:0-683-40008-8 PMID:9753320 https://orcid.org/0000-0003-3691-0324 any structural anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses abnormal motor neurons motor neuron abnormalities abnormal motoneuron morphology motor neuron dysplasia MPheno.ontology MP:0000937 abnormal motor neuron morphology MP:0000937 any structural anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses motoneuron degeneration MPheno.ontology loss of motor neurons MP:0000938 motor neuron degeneration MP:0000938 retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses https://orcid.org/0000-0003-3691-0324 fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses decreased motoneuron number reduced motor neuron number MPheno.ontology MP:0000939 decreased motor neuron number MP:0000939 fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any changes in the placement, morphology or number of motor nerve fibers to an effector motor tissue, or failure of refinement of neuronal connections during development abnormal motoneuron innervation abnormal motor neuron projections MPheno.ontology MP:0000940 abnormal motor neuron innervation pattern MP:0000940 any changes in the placement, morphology or number of motor nerve fibers to an effector motor tissue, or failure of refinement of neuronal connections during development https://orcid.org/0000-0003-3691-0324 OBSOLETE. failure of an innervating motor neuron to stop at target site and form terminal arbors MP:0000940 failure of motoneuron target finding MPheno.ontology MP:0000941 obsolete failure of motor neuron target finding true MP:0000941 OBSOLETE. innervating motor neuron projections grow past typical endplate target and extend to myotendenous ends of muscle MP:0000940 excessive motoneuron axon growth excessive motor neuron growth MPheno.ontology MP:0000942 obsolete excessive motor neuron axon growth true MP:0000942 true MP:0000943 OBSOLETE. MP:0009954 MPheno.ontology MP:0000944 obsolete Reduced Olfactory mitral Cells true MP:0000944 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0000945 true MP:0000946 seizures characterized by uncontrolled motor activity MP:0001494 Convulsive convulsions MPheno.ontology MP:0000947 convulsive seizures MP:0000947 seizures characterized by uncontrolled motor activity ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 seizures without uncontrolled motor activity, but with impairment of consciousness MP:0001495 Nonconvulsive MPheno.ontology MP:0000948 nonconvulsive seizures MP:0000948 seizures without uncontrolled motor activity, but with impairment of consciousness ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0000949 anomaly in the seizure activity response that is brought about by treatment with pharmacological agents MP:0001497 MPheno.ontology pharmacologically induced seizures MP:0000950 abnormal seizure response to pharmacological agent MP:0000950 anomaly in the seizure activity response that is brought about by treatment with pharmacological agents https://orcid.org/0000-0003-3691-0324 occasional seizures occurring at irregular intervals MP:0001498 spontaneous seizures MPheno.ontology MP:0000951 sporadic seizures MP:0000951 occasional seizures occurring at irregular intervals https://orcid.org/0000-0003-3691-0324 any structural anomaly of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons CNS glia abnormalities abnormal CNS glia abnormal CNS glia morphology MPheno.ontology MP:0000952 abnormal CNS glial cell morphology MP:0000952 any structural anomaly of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons MESH:A08.637 any structural anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS abnormal oligodendrocytes abnormal oligodendroglia abnormal oligoglia abnormal oligodendroglial cell morphology abnormal oligoglial cell morphology MPheno.ontology MP:0000953 abnormal oligodendrocyte morphology MP:0000953 any structural anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS MESH:A08.637.600 fewer cells that differentiate into a type of glial cell in the central nervous system decreased oligodendrocyte precursor number reduced oligodendrocyte progenitor number reduced oligodendrocyte progenitor numbers MPheno.ontology MP:0000954 decreased oligodendrocyte progenitor number MP:0000954 fewer cells that differentiate into a type of glial cell in the central nervous system J:15108 any structural anomaly of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris spinal cord abnormalities spinal cord dysplasia MPheno.ontology MP:0000955 abnormal spinal cord morphology MP:0000955 any structural anomaly of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris https://orcid.org/0000-0003-3691-0324 smaller appearance of the spinal cord reduced spinal cord size small spinal cord MPheno.ontology MP:0000956 decreased spinal cord size MP:0000956 smaller appearance of the spinal cord PMID:8837770 true MP:0000957 a retrogressive impairment of function or destruction of the ganglia and peripheral nerves that lie outside the brain and spinal cord degeneration of peripheral nervous system MPheno.ontology MP:0000958 peripheral nervous system degeneration MP:0000958 a retrogressive impairment of function or destruction of the ganglia and peripheral nerves that lie outside the brain and spinal cord ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the neural tissue involved in the transmission of sensory signals somatic sensory system abnormalities somatic sensory system dysplasia MPheno.ontology MP:0000959 abnormal somatic sensory system morphology MP:0000959 any structural anomaly of the neural tissue involved in the transmission of sensory signals https://orcid.org/0000-0003-3691-0324 any structural anomaly of the clusters of neurons in the somatic peripheral nervous system which contain the cell bodies of sensory nerve axons, interneurons and non-neuronal supporting cells abnormal sensory ganglia sensory ganglia abnormalities sensory ganglion dysplasia MPheno.ontology MP:0000960 abnormal sensory ganglion morphology MP:0000960 any structural anomaly of the clusters of neurons in the somatic peripheral nervous system which contain the cell bodies of sensory nerve axons, interneurons and non-neuronal supporting cells MESH:A08.340.390 https://orcid.org/0000-0003-3691-0324 any structural anomaly of a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column MP:0001104 abnormal DRGs abnormal dorsal root ganglia abnormal spinal ganglia dorsal root ganglia abnormalities spinal ganglia abnormalities abnormal spinal ganglion morphology abnormal dorsal root ganglion dysplasia abnormal spinal ganglion dysplasia MPheno.ontology MP:0000961 abnormal dorsal root ganglion morphology MP:0000961 any structural anomaly of a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column MESH:A08.340.390.340 https://orcid.org/0000-0003-3691-0324 loss of segmentation pattern of dorsal root ganglia or loss of regular spacing between the ganglia disorganised dorsal root ganglia disorganized DRG disorganized spinal ganglia MPheno.ontology MP:0000962 disorganized dorsal root ganglion MP:0000962 loss of segmentation pattern of dorsal root ganglia or loss of regular spacing between the ganglia PMID:10804168 PMID:10804169 loss of DRG spacing pattern and the appearance of two or more ganglia as one dorsal root ganglia fusion fused DRG fused dorsal root ganglia fused spinal ganglia fusion of dorsal root ganglia MPheno.ontology MP:0000963 fused dorsal root ganglion MP:0000963 loss of DRG spacing pattern and the appearance of two or more ganglia as one PMID:10804168 PMID:10804169 reduced size a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column decreased dorsal root ganglion size reduced dorsal root ganglion size small DRG small spinal ganglion MPheno.ontology MP:0000964 small dorsal root ganglion MP:0000964 reduced size a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column MESH:A08.340.390.340 any structural anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses abnormal sensory neurons MPheno.ontology MP:0000965 abnormal sensory neuron morphology MP:0000965 any structural anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses reduced sensory neuron number MPheno.ontology MP:0000966 decreased sensory neuron number MP:0000966 fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0000967 any changes in the placement, morphology or number of sensory nerve fibers to sensory termini or to spinal cord MP:0000967 abnormal sensory neuron projections MPheno.ontology MP:0000968 abnormal sensory neuron innervation pattern MP:0000968 any changes in the placement, morphology or number of sensory nerve fibers to sensory termini or to spinal cord https://orcid.org/0000-0003-3691-0324 any structural anomaly of any of the peripheral receptors for pain, including receptors sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli abnormal nociceptors MPheno.ontology MP:0000969 abnormal nociceptor morphology MP:0000969 any structural anomaly of any of the peripheral receptors for pain, including receptors sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli MESH:A08.800.550.700.650 anomaly in a sensory receptor that may be stimulated by mechanical, thermal or chemical means abnormal polymodal receptors MPheno.ontology MP:0000970 abnormal polymodal receptor morphology MP:0000970 anomaly in a sensory receptor that may be stimulated by mechanical, thermal or chemical means ISBN:0838580343 any structural anomaly of any of the cellular receptors that mediate the sense of temperature; in vertebrates, these are most often located under the skin abnormal thermal receptors MPheno.ontology MP:0000971 abnormal thermoreceptor morphology MP:0000971 any structural anomaly of any of the cellular receptors that mediate the sense of temperature; in vertebrates, these are most often located under the skin MESH:A08.800.550.700.840 anomaly in the receptors of the body, usually nerve termini, that respond to mechanical pressure or distortion abnormal mechanoreceptors MPheno.ontology MP:0000972 abnormal mechanoreceptor morphology MP:0000972 anomaly in the receptors of the body, usually nerve termini, that respond to mechanical pressure or distortion ISBN:0-683-40008-8 any structural anomaly of the neuronal receptors that respond to mechanical pressure or distortion in the skin abnormal cutaneous/subcutaneous mechanoreceptors MPheno.ontology MP:0000973 abnormal cutaneous/subcutaneous mechanoreceptor morphology MP:0000973 any structural anomaly of the neuronal receptors that respond to mechanical pressure or distortion in the skin ISBN:0-683-40008-8 PMID:21304548 anomaly of the subcutaneous mechanoreceptors that innervate hair follicles of guard hairs, and are involved in the amplification of slow-moving and/or light touch stimuli signals abnormal hair guard neurons abnormal G hair neuron morphology MPheno.ontology MP:0000974 abnormal hair guard neuron morphology MP:0000974 anomaly of the subcutaneous mechanoreceptors that innervate hair follicles of guard hairs, and are involved in the amplification of slow-moving and/or light touch stimuli signals PMID:21304548 absence of the subcutaneous mechanoreceptors that innervate hair follicles of guard hairs, and are involved in the amplification of slow-moving and/or light touch stimuli signals absent G hair neurons MPheno.ontology MP:0000975 absent hair guard neurons MP:0000975 absence of the subcutaneous mechanoreceptors that innervate hair follicles of guard hairs, and are involved in the amplification of slow-moving and/or light touch stimuli signals PMID:21304548 more robust innervation of the subcutaneous mechanoreceptors that innervate hair follicles of guard hairs, and are involved in the amplification of slow-moving and/or light touch stimuli signals hyperinnervation of G hair neurons MPheno.ontology MP:0000976 hyperinnervation of hair guard cells MP:0000976 more robust innervation of the subcutaneous mechanoreceptors that innervate hair follicles of guard hairs, and are involved in the amplification of slow-moving and/or light touch stimuli signals PMID:21304548 anomaly of the subcutaneous mechanoreceptors that innervate tylotrich hair follicles abnormal hair-tylotrich neurons MPheno.ontology MP:0000977 abnormal hair-tylotrich neuron morphology MP:0000977 anomaly of the subcutaneous mechanoreceptors that innervate tylotrich hair follicles https://orcid.org/0000-0003-3691-0324 more robust innervation of the hair tylotrich cells MPheno.ontology MP:0000978 hyperinnervation of hair-tylotrich cells MP:0000978 more robust innervation of the hair tylotrich cells https://orcid.org/0000-0003-3691-0324 anomaly of the subcutaneous mechanosensitive D-hair (down-hair) neurons, which innervate hair follicles, and are characterized by a large-amplitude Cav3.2 T-current involved in the amplification of slow-moving and/or light touch stimuli abnormal D-hair receptors abnormal hair-down neurons abnormal D-hair neuron morphology MPheno.ontology MP:0000979 abnormal hair-down neuron morphology MP:0000979 anomaly of the subcutaneous mechanosensitive D-hair (down-hair) neurons, which innervate hair follicles, and are characterized by a large-amplitude Cav3.2 T-current involved in the amplification of slow-moving and/or light touch stimuli PMID:21304548 PMID:21892923 absence of the subcutaneous mechanosensitive D-hair (down-hair) neurons, which innervate hair follicles, and are characterized by a large-amplitude Cav3.2 T-current involved in the amplification of slow-moving and/or light touch stimuli loss of hair-down neurons MPheno.ontology MP:0000980 absent hair-down neurons MP:0000980 absence of the subcutaneous mechanosensitive D-hair (down-hair) neurons, which innervate hair follicles, and are characterized by a large-amplitude Cav3.2 T-current involved in the amplification of slow-moving and/or light touch stimuli PMID:21304548 PMID:21892923 more robust innervation of the subcutaneous mechanosensitive D-hair (down-hair) neurons, which innervate hair follicles, and are characterized by a large-amplitude Cav3.2 T-current involved in the amplification of slow-moving and/or light touch stimuli MPheno.ontology MP:0000981 hyperinnervation of hair-down cells MP:0000981 more robust innervation of the subcutaneous mechanosensitive D-hair (down-hair) neurons, which innervate hair follicles, and are characterized by a large-amplitude Cav3.2 T-current involved in the amplification of slow-moving and/or light touch stimuli PMID:21892923 any structural anomaly of any of the numerous oval bodies found in the dermal papillae of glabrous skin that transmit information about skin motion and slipping objects abnormal oval corpuscle morphology abnormal touch corpuscle morphology Meissner's corpuscle dysplasia MPheno.ontology MP:0000982 abnormal Meissner's corpuscle morphology MP:0000982 any structural anomaly of any of the numerous oval bodies found in the dermal papillae of glabrous skin that transmit information about skin motion and slipping objects ISBN:0-683-40008-8 PMID:21304548 larger than average size of any of the numerous oval bodies found in the dermal papillae of glabrous skin that transmit information about skin motion and slipping objects enlarged oval corpuscle enlarged touch corpuscle increased Meissner's corpuscle size MPheno.ontology MP:0000983 enlarged Meissner's corpuscles MP:0000983 larger than average size of any of the numerous oval bodies found in the dermal papillae of glabrous skin that transmit information about skin motion and slipping objects PMID:21304548 more robust supply of nerve fibers connected to any part of any of the numerous oval bodies found in the dermal papillae of glabrous skin that transmit information about skin motion and slipping objects MPheno.ontology MP:0000984 hyperinnervation of Meissner's corpuscle MP:0000984 more robust supply of nerve fibers connected to any part of any of the numerous oval bodies found in the dermal papillae of glabrous skin that transmit information about skin motion and slipping objects ISBN:0-683-40008-8 PMID:21304548 any structural anomaly of the modified epidermal cells located in the stratum basale and found mostly in areas where sensory perception is acute abnormal Merkel cells abnormal Merkel receptors Merkel's receptor dysplasia MPheno.ontology MP:0000985 abnormal Merkel's receptor morphology MP:0000985 any structural anomaly of the modified epidermal cells located in the stratum basale and found mostly in areas where sensory perception is acute MESH:A08.800.550.700.500.425 greater than the normal number of the modified epidermal cells located in the stratum basale and found mostly in areas where sensory perception is acute increased Merkel cell number increased Merkel receptor number increased numbers of Merkel's receptors MPheno.ontology MP:0000986 increased Merkel's receptor number MP:0000986 greater than the normal number of the modified epidermal cells located in the stratum basale and found mostly in areas where sensory perception is acute MESH:A08.800.550.700.500.425 more robust supply of nerve fibers connected to the modified epidermal cells located in the stratum basale and found mostly in areas where sensory perception is acute hyperinnervation of Merkel cells hyperinnervation of Merkel receptors MPheno.ontology MP:0000987 hyperinnervation of Merkel's receptor MP:0000987 more robust supply of nerve fibers connected to the modified epidermal cells located in the stratum basale and found mostly in areas where sensory perception is acute MESH:A08.800.550.700.500.425 MGI:cwg any structural anomaly of any of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin, and which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers; trasmit signals generated by vibrations when grasping an object abnormal lamellar corpuscle morphology abnormal lamellated corpuscle morphology pacinian corpuscle dysplasia MPheno.ontology MP:0000988 abnormal pacinian corpuscle morphology MP:0000988 any structural anomaly of any of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin, and which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers; trasmit signals generated by vibrations when grasping an object MESH:A08.800.550.700.500.700 PMID:21304548 any structural anomaly in the sensory cells in the subcutaneous tissue of the digits specialized to transduce mechanical stimuli, skin stretch, direction of object motion, hand shape and finger position Ruffini's corpuscle dysplasia MPheno.ontology MP:0000989 abnormal Ruffini's corpuscle morphology MP:0000989 any structural anomaly in the sensory cells in the subcutaneous tissue of the digits specialized to transduce mechanical stimuli, skin stretch, direction of object motion, hand shape and finger position ISBN:0-683-40008-8 PMID:21304548 any structural anomaly of the receptors that respond to mechanical pressure or distortion in the skeletal muscle abnormal muscle/skeletal mechanoreceptors MPheno.ontology MP:0000990 abnormal skeletal muscle mechanoreceptor morphology MP:0000990 any structural anomaly of the receptors that respond to mechanical pressure or distortion in the skeletal muscle ISBN:0-683-40008-8 any structural anomaly of the sensory organ in muscle; involved in the stretch reflex and sensitive to stretch velocity abnormal muscle spindle-primary morphology MPheno.ontology MP:0000991 abnormal primary muscle spindle morphology MP:0000991 any structural anomaly of the sensory organ in muscle; involved in the stretch reflex and sensitive to stretch velocity ISBN:0838580343 missing sensory organ in muscle; involved in the stretch reflex and is sensitive to stretch velocity absent muscle spindle -primary MPheno.ontology MP:0000992 absent primary muscle spindle MP:0000992 missing sensory organ in muscle; involved in the stretch reflex and is sensitive to stretch velocity ISBN:0838580343 missing a portion of the sensory organ in muscle; involved in the stretch reflex and is sensitive to stretch velocity partial loss of muscle spindle-primary MPheno.ontology MP:0000993 partial loss of primary muscle spindle MP:0000993 missing a portion of the sensory organ in muscle; involved in the stretch reflex and is sensitive to stretch velocity ISBN:0838580343 any structural anomaly of the sensory organ in muscle; involved in the stretch reflex and not sensitive to stretch velocity abnormal muscle spindle-secondary MPheno.ontology MP:0000994 abnormal secondary muscle spindle morphology MP:0000994 any structural anomaly of the sensory organ in muscle; involved in the stretch reflex and not sensitive to stretch velocity ISBN:0838580343 lack of the sensory organ in muscle; involved in the stretch reflex and is not sensitive to stretch velocity absent muscle spindle -secondary MPheno.ontology MP:0000995 absent secondary muscle spindle MP:0000995 lack of the sensory organ in muscle; involved in the stretch reflex and is not sensitive to stretch velocity ISBN:0-471-31639-3 missing a portion of the sensory organ in muscle; involved in the stretch reflex and is not sensitive to stretch velocity partial loss of muscle spindle-secondary MPheno.ontology MP:0000996 partial loss of secondary muscle spindle MP:0000996 missing a portion of the sensory organ in muscle; involved in the stretch reflex and is not sensitive to stretch velocity ISBN:0-471-31639-3 any structural anomaly of the sac or its contents that encloses the articulating ends of bones participating in a synovial joint abnormal articular capsule morphology abnormal capsula articularis morphology abnormal joint capsule morphology abnormal joint fibrous capsule morphology joint capsule dysplasia MPheno.ontology MP:0000997 abnormal synovial joint capsule morphology MP:0000997 any structural anomaly of the sac or its contents that encloses the articulating ends of bones participating in a synovial joint ISBN:0-683-40008-8 missing the sac that encloses the articulating ends of bones participating in a synovial joint absent articular capsule absent capsula articularis absent joint capsule absent joint fibrous capsule MPheno.ontology MP:0000998 absent synovial joint capsule MP:0000998 missing the sac that encloses the articulating ends of bones participating in a synovial joint ISBN:0-683-40008-8 any structural anomaly of the sensory organ in muscle that is involved in regulating muscle tension abnormal neurotendinous organ morphology abnormal neurotendinous spindle morphology golgi tendon organ dysplasia MPheno.ontology MP:0000999 abnormal golgi tendon organ morphology MP:0000999 any structural anomaly of the sensory organ in muscle that is involved in regulating muscle tension ISBN:0838580343 missing sensory organ in muscle that is involved in regulating muscle tension absent neurotendinous organ absent neurotendinous spindle MPheno.ontology MP:0001000 absent golgi tendon organ MP:0001000 missing sensory organ in muscle that is involved in regulating muscle tension ISBN:0838580343 any structural anomaly of any of the cells specialized to detect chemical substances and relay that information centrally in the nervous system abnormal chemoreceptors MPheno.ontology MP:0001001 abnormal chemoreceptor morphology MP:0001001 any structural anomaly of any of the cells specialized to detect chemical substances and relay that information centrally in the nervous system MESH:A08.800.550.700.120 OBSOLETE. any structural anomaly of the small sensory organs located in the tongue that contain gustatory receptor cells, basal cells, and supporting cells abnormal taste buds taste bud dysplasia MPheno.ontology MP:0001002 obsolete abnormal taste bud morphology true MP:0001002 OBSOLETE. any structural anomaly of the small sensory organs located in the tongue that contain gustatory receptor cells, basal cells, and supporting cells MESH:A03.556.500.885.779 MGI:cwg any structural anomaly of the proteins, usually projecting from the cilia of olfactory receptor neurons, that specifically bind odorant molecules and trigger responses in the specialized neurons of the olfactory epithelium abnormal odorant receptors abnormal odourant receptors MPheno.ontology MP:0001003 abnormal olfactory receptor morphology MP:0001003 any structural anomaly of the proteins, usually projecting from the cilia of olfactory receptor neurons, that specifically bind odorant molecules and trigger responses in the specialized neurons of the olfactory epithelium MESH:D12.776.543.750.100.600 MGI:cwg any structural anomaly of a cell specialized to detect and transduce light, including rods and cones of the retina abnormal photoreceptors CL:0000210 abnormal retinal photoreceptor morphology MPheno.ontology MP:0001004 abnormal retina photoreceptor morphology MP:0001004 any structural anomaly of a cell specialized to detect and transduce light, including rods and cones of the retina MESH:A.08.663.650.650 any structural anomaly of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane; rods are more sensitive to light than cones, but rod mediated vision has less spatial and temporal resolution than cone vision abnormal rod morphology abnormal rods CL:0000604 abnormal retinal rod cell morphology MPheno.ontology MP:0001005 abnormal retina rod cell morphology MP:0001005 any structural anomaly of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane; rods are more sensitive to light than cones, but rod mediated vision has less spatial and temporal resolution than cone vision MESH:A08.663.650.650.670.650 any structural anomaly of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment; cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision abnormal cone morphology abnormal cones CL:0000573 abnormal cone photoreceptor morphology abnormal retinal cone cell morphology MPheno.ontology MP:0001006 abnormal retina cone cell morphology MP:0001006 any structural anomaly of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment; cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision MESH:A08.663.650.650.670.100 any structural anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations sympathetic system abnormalities abnormal adrenergic system morphology abnormal somatic sympathetic system morphology abnormal thoracolumbar system morphology sympathetic system dysplasia MPheno.ontology MP:0001007 abnormal sympathetic system morphology MP:0001007 any structural anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations ISBN:0-683-40008-8 MESH:A08.800.050.800 any structural anomaly of the ganglia of the sympathetic nervous system including the paravertebral and the prevertebral ganglia, which include the sympathetic chain ganglia, the superior, middle, and inferior cervical ganglia, and the aorticorenal, celiac, and stellate ganglia sympathetic ganglia abnormalities abnormal sympathetic ganglia morphology sympathetic ganglion dysplasia MPheno.ontology MP:0001008 abnormal sympathetic ganglion morphology MP:0001008 any structural anomaly of the ganglia of the sympathetic nervous system including the paravertebral and the prevertebral ganglia, which include the sympathetic chain ganglia, the superior, middle, and inferior cervical ganglia, and the aorticorenal, celiac, and stellate ganglia MESH:A08.340.315.350 increase in the number of normal cells in normal arrangement in the paravertebral ganglia, typically resulting in increased size hyperplastic paravertebral ganglia MPheno.ontology MP:0001009 paravertebral ganglia hyperplasia MP:0001009 increase in the number of normal cells in normal arrangement in the paravertebral ganglia, typically resulting in increased size ISBN:0-683-40008-8 increase in the number of normal cells in normal arrangement in the prevertebral ganglia, typically resulting in increased size hyperplastic prevertebral ganglia MPheno.ontology MP:0001010 prevertebral ganglia hyperplasia MP:0001010 increase in the number of normal cells in normal arrangement in the prevertebral ganglia, typically resulting in increased size ISBN:0-683-40008-8 any structural anomaly of the group of neurons that is the largest of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck abnormal superior cervical ganglia abnormal ganglion cervicale superius morphology superior cervical ganglion dysplasia MPheno.ontology MP:0001011 abnormal superior cervical ganglion morphology MP:0001011 any structural anomaly of the group of neurons that is the largest of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck ISBN:0-683-40008-8 increase in the size of cells in the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck ganglion cervicale superius hypertrophy hypertrophic superior cervical ganglion hypertrophy of superior cervical ganglion MPheno.ontology MP:0001012 superior cervical ganglion hypertrophy MP:0001012 increase in the size of cells in the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck ISBN:0-683-40008-8 increased size of the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck enlarged ganglion cervicale superius increased superior cervical ganglion size MPheno.ontology MP:0001013 enlarged superior cervical ganglion MP:0001013 increased size of the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck ISBN:0-683-40008-8 lack of the group of neurons that is the largest of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck absence of superior cervical ganglion absent ganglion cervicale superius MPheno.ontology MP:0001014 absent superior cervical ganglion MP:0001014 lack of the group of neurons that is the largest of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck ISBN:0-683-40008-8 reduced size of the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck decreased superior cervical ganglion size reduced superior cervical ganglion size small ganglion cervicale superius MPheno.ontology MP:0001015 small superior cervical ganglion MP:0001015 reduced size of the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck ISBN:0-683-40008-8 any structural anomaly of the small ganglion located at the level of the cricoid cartilage of the laryngeal wall abnormal middle cervical ganglia morphology middle cervical ganglion dysplasia MPheno.ontology MP:0001016 abnormal middle cervical ganglion morphology MP:0001016 any structural anomaly of the small ganglion located at the level of the cricoid cartilage of the laryngeal wall ISBN:0-683-40008-8 any structural anomaly of the group of neurons formed by the fusion of the inferior cervical and first thoracic ganglia abnormal cervicothoracic ganglion morphology abnormal stellate ganglia morphology stellate ganglion dysplasisa MPheno.ontology MP:0001017 abnormal stellate ganglion morphology MP:0001017 any structural anomaly of the group of neurons formed by the fusion of the inferior cervical and first thoracic ganglia ISBN:0-683-40008-8 MESH:A08.340.315.350.800 OBSOLETE. MPheno.ontology MP:0001018 obsolete abnormal adrenal gland ganglion true MP:0001018 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the fourth lumbar vertebra MP:0006406 abnormal L4 dorsal root ganglia abnormal L4 DRG morphology abnormal L4 ganglion morphology abnormal L4 sympathetic ganglia morphology abnormal L4 sympathetic ganglion morphology L4 dorsal root ganglion dysplasia L4 ganglion dysplasia MPheno.ontology MP:0001019 abnormal L4 dorsal root ganglion morphology MP:0001019 any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the fourth lumbar vertebra https://orcid.org/0000-0003-3691-0324 increased bulk size of the L4 spinal ganglion L4 DRG ganglion hypertrophy L4 ganglia hypertrophy hypertrophy of L4 ganglion MPheno.ontology MP:0001020 L4 dorsal root ganglion hypertrophy MP:0001020 increased bulk size of the L4 spinal ganglion J:34172 reduced size of the L4 spinal ganglion decreased L4 dorsal root ganglion size reducedL4 dorsal root ganglion size small L4 DRG ganglion small L4 dorsal root ganglia MPheno.ontology MP:0001021 small L4 dorsal root ganglion MP:0001021 reduced size of the L4 spinal ganglion J:17792 any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the fifth lumbar vertebra MP:0006407 abnormal L5 DRG morphology abnormal L5 dorsal root ganglia morphology abnormal L5 ganglion morphology abnormal L5 sympathetic ganglia morphology abnormal L5 sympathetic ganglion morphology L5 dorsal root ganglion dysplasia L5 ganglion dysplasia MPheno.ontology MP:0001022 abnormal L5 dorsal root ganglion morphology MP:0001022 any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the fifth lumbar vertebra https://orcid.org/0000-0003-3691-0324 increased bulk size of L5 spinal ganglion L5 DRG hypertrophy L5 dorsal root ganglia hypertrophy hypertrophy of L5 ganglion MPheno.ontology MP:0001023 L5 dorsal root ganglion hypertrophy MP:0001023 increased bulk size of L5 spinal ganglion J:34172 reduced size of the L5 spinal ganglion decreased L5 dorsal root ganglion size reduced L5 dorsal root ganglion size small L5 DRG small L5 dorsal root ganglia MPheno.ontology MP:0001024 small L5 dorsal root ganglion MP:0001024 reduced size of the L5 spinal ganglion J:17792 any structural anomaly of any of the neurons of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations abnormal sympathetic neurons sympathetic neuron abnormalities MPheno.ontology MP:0001025 abnormal sympathetic neuron morphology MP:0001025 any structural anomaly of any of the neurons of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations MESH:A08.800.050.800 any structural anomaly of the neurons which secrete norepinephrine as a neurotransmitter; adrenergic neurons are mostly sympathetic postganglionic nerves plus some within specific brainstem foci abnormal adrenergic neurons adrenergic neuron abnormalities MPheno.ontology MP:0001026 abnormal adrenergic neuron morphology MP:0001026 any structural anomaly of the neurons which secrete norepinephrine as a neurotransmitter; adrenergic neurons are mostly sympathetic postganglionic nerves plus some within specific brainstem foci ISBN:070202788X OBSOLETE. adrenergic innervation abnormalities MPheno.ontology MP:0001027 obsolete abnormal adrenergic innervation true MP:0001027 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001028 obsolete adrenergic hyperinnervation of muscle true MP:0001028 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001029 true MP:0001030 OBSOLETE. MPheno.ontology MP:0001031 obsolete cholinergic hyperinnervation of muscle true MP:0001031 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the nerve fibers that release small peptides as their neurotransmitter abnormal peptidergic neurons peptidergic neuron abnormalities MPheno.ontology MP:0001032 abnormal peptidergic neuron morphology MP:0001032 any structural anomaly of the nerve fibers that release small peptides as their neurotransmitter ISBN:0-683-40008-8 MGI:cwg any structural anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and generally acts to conserve resources and restore homeostasis, often with effects reciprocal to the sympathetic nervous system parasympathetic system abnormalities abnormal cholinergic system morphology abnormal craniosacral system morphology abnormal somatic parasympathetic system morphology parasympathetic system dysplasia MPheno.ontology MP:0001033 abnormal parasympathetic system morphology MP:0001033 any structural anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and generally acts to conserve resources and restore homeostasis, often with effects reciprocal to the sympathetic nervous system ISBN:0-683-40008-8 MESH:A08.800.050.600 any structural anomaly of the ganglia of the parasympathetic nervous system, including the ciliary, pterygopalatine, submandibular, and otic ganglia in the cranial region and intrinsic (terminal) ganglia associated with target organs in the thorax and abdomen abnormal parasympathetic ganglia parasympathetic ganglion dysplasia MPheno.ontology MP:0001034 abnormal parasympathetic ganglion morphology MP:0001034 any structural anomaly of the ganglia of the parasympathetic nervous system, including the ciliary, pterygopalatine, submandibular, and otic ganglia in the cranial region and intrinsic (terminal) ganglia associated with target organs in the thorax and abdomen MESH:A08.340.315.300 any structural anomaly of the ganglion associated with the lingual nerve that provides postsynaptic fibers to the submandibular and sublingual glands abnormal submandibular ganglia MA:0002470 abnormal submaxillary ganglion morphology submandibular ganglion dysplasia MPheno.ontology MP:0001035 abnormal submandibular ganglion morphology MP:0001035 any structural anomaly of the ganglion associated with the lingual nerve that provides postsynaptic fibers to the submandibular and sublingual glands ISBN:0-683-40008-8 reduced size of the small parasympathetic ganglion of the lingual nerve small submandibular ganglia small submaxillary ganglion MPheno.ontology MP:0001036 small submandibular ganglion MP:0001036 reduced size of the small parasympathetic ganglion of the lingual nerve ISBN:0-683-40008-8 J:53284 any structural anomaly of the neurons of the autonomic nervous system that are responsible for innervation of smooth muscle, cardiac muscle and glands abnormal parasympathetic neurons MPheno.ontology MP:0001037 abnormal parasympathetic neuron morphology MP:0001037 any structural anomaly of the neurons of the autonomic nervous system that are responsible for innervation of smooth muscle, cardiac muscle and glands MESH:A08.800.050.600 any structural anomaly of the neurons that utilize acetylcholine as a neurotransmitter, including include alpha-motor neurons of the spinal cord, cranial nerves innervating skeletal muscle, preganglionic sympathetic and postganglionic parasympathetic neurons MP:0001029 cholinergic neuron abnormalities MPheno.ontology MP:0001038 abnormal cholinergic neuron morphology MP:0001038 any structural anomaly of the neurons that utilize acetylcholine as a neurotransmitter, including include alpha-motor neurons of the spinal cord, cranial nerves innervating skeletal muscle, preganglionic sympathetic and postganglionic parasympathetic neurons ISBN:070202788X ISBN:0838580343 OBSOLETE. malformation or absence of the supply of nerve fibers that utilize acetylcholine as a neurotransmitter MP:0001030 cholinergic innervation abnormalities MPheno.ontology MP:0001039 obsolete abnormal cholinergic innervation true MP:0001039 OBSOLETE. malformation or absence of the supply of nerve fibers that utilize acetylcholine as a neurotransmitter ISBN:0838580343 defective or incomplete supply of nerve fibers to the intestinal system that utilize acetylcholine as a neurotransmitter MP:0001050 MPheno.ontology MP:0001040 deficient enteric cholinergic innervation MP:0001040 defective or incomplete supply of nerve fibers to the intestinal system that utilize acetylcholine as a neurotransmitter J:53284 OBSOLETE. missing supply of nerve fibers to the gland that secretes tears MPheno.ontology MP:0001041 obsolete absent lacrimal gland cholinergic innervation true MP:0001041 OBSOLETE. missing supply of nerve fibers to the gland that secretes tears ISBN:0-683-40008-8 OBSOLETE. missing supply of nerve fibers to the exocrine gland on the floor of the mouth that secretes saliva MPheno.ontology MP:0001042 obsolete absent sublingual salivary gland cholinergic innervation true MP:0001042 OBSOLETE. missing supply of nerve fibers to the exocrine gland on the floor of the mouth that secretes saliva ISBN:0-683-40008-8 OBSOLETE. missing supply of nerve fibers to the exocrine gland lateral to the jaw that secretes saliva MPheno.ontology MP:0001043 obsolete absent parotid salivary gland cholinergic innervation true MP:0001043 OBSOLETE. missing supply of nerve fibers to the exocrine gland lateral to the jaw that secretes saliva ISBN:0-683-40008-8 any structural anomaly of the part of the autonomic nervous system that innervates the gastrointestinal tract, the pancreas, and the gallbladder and can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport enteric nervous system abnormalities enteric nervous system dysplasia MPheno.ontology MP:0001044 abnormal enteric nervous system morphology MP:0001044 any structural anomaly of the part of the autonomic nervous system that innervates the gastrointestinal tract, the pancreas, and the gallbladder and can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport MESH:A08.800.050.150 https://orcid.org/0000-0003-3691-0324 any structural anomaly or deformity of the groups of nerve cell bodies associated with the enteric neurons abnormal enteric ganglia enteric ganglion dysplasia MPheno.ontology MP:0001045 abnormal enteric ganglia morphology MP:0001045 any structural anomaly or deformity of the groups of nerve cell bodies associated with the enteric neurons https://orcid.org/0000-0003-3691-0324 any structural anomaly of the neurons that innervate the esophagus, stomach, small and large bowel abnormal enteric neurons MPheno.ontology MP:0001046 abnormal enteric neuron morphology MP:0001046 any structural anomaly of the neurons that innervate the esophagus, stomach, small and large bowel https://orcid.org/0000-0003-3691-0324 any structural anomaly of the neurons that utilize acetylcholine as a neurotransmitter and innervate the esophagus, stomach, small and large bowel abnormal enteric cholinergic neurons MPheno.ontology MP:0001047 abnormal enteric cholinergic neuron morphology MP:0001047 any structural anomaly of the neurons that utilize acetylcholine as a neurotransmitter and innervate the esophagus, stomach, small and large bowel ISBN:0838580343 absence of the neurons that innervate the esophagus, stomach, small and large bowel absence of enteric neurons MPheno.ontology MP:0001048 absent enteric neurons MP:0001048 absence of the neurons that innervate the esophagus, stomach, small and large bowel ISBN:0838580343 any structural anomaly of the supply of nerve fibers that utilize acetylcholine as a neurotransmitter to the intestinal system MPheno.ontology MP:0001049 abnormal enteric cholinergic innervation MP:0001049 any structural anomaly of the supply of nerve fibers that utilize acetylcholine as a neurotransmitter to the intestinal system ISBN:0-683-40008-8 true MP:0001050 any structural anomaly of the neural tissue involved in the transmission of motor signals somatic motor system abnormalities somatic motor system dysplasia MPheno.ontology MP:0001051 abnormal somatic motor system morphology MP:0001051 any structural anomaly of the neural tissue involved in the transmission of motor signals https://orcid.org/0000-0003-3691-0324 any changes in the placement, morphology or number of sensory, sympathetic or motor nerves to targets in muscle muscle innervation abnormalities MPheno.ontology abnormal muscle innervation MP:0001052 abnormal innervation pattern to muscle MP:0001052 any changes in the placement, morphology or number of sensory, sympathetic or motor nerves to targets in muscle https://orcid.org/0000-0003-3691-0324 any structural anomaly of the membrane to membrane contact of a motor axon and a muscle myofiber that is responsible for the transmission of nerve impulses neuromuscular synapse abnormalities abnormal NMJ morphology abnormal neuromuscular junction morphology MPheno.ontology MP:0001053 abnormal neuromuscular synapse morphology MP:0001053 any structural anomaly of the membrane to membrane contact of a motor axon and a muscle myofiber that is responsible for the transmission of nerve impulses ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 inability of nerve terminals to find target and/or form terminal arbors for synaptic transmission at the neuromuscular synapse failure of neuromuscular synapse pre-synaptic differentiation MPheno.ontology MP:0001054 failure of neuromuscular synapse presynaptic differentiation MP:0001054 inability of nerve terminals to find target and/or form terminal arbors for synaptic transmission at the neuromuscular synapse PMID:10742104 inability of an effector cell to form a differentiated postsynaptic membrane in response to innervation at the neuromuscular synapse failure of neuromuscular synapse post-synaptic differentiation MPheno.ontology MP:0001055 failure of neuromuscular synapse postsynaptic differentiation MP:0001055 inability of an effector cell to form a differentiated postsynaptic membrane in response to innervation at the neuromuscular synapse PMID:10742104 any structural anomaly of any of the twelve nerves that emerge from the cranium as opposed to the spinal nerves abnormal cranial nerves cranial nerve abnormalities cranial nerve dysplasia MPheno.ontology MP:0001056 abnormal cranial nerve morphology MP:0001056 any structural anomaly of any of the twelve nerves that emerge from the cranium as opposed to the spinal nerves ISBN:0-683-40008-8 PMID:9362461 https://orcid.org/0000-0003-3691-0324 true MP:0001057 true MP:0001058 acquired diminution of the size of the optic nerve, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0001331 atrophic optic nerve atrophy of optic nerve MPheno.ontology MP:0001059 optic nerve atrophy MP:0001059 acquired diminution of the size of the optic nerve, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0003-3691-0324 true MP:0001060 any structural anomaly of the third cranial nerve, which normally sends motor fibers to the levator muscles of the eyelid and to the superior rectus, inferior rectus, and inferior oblique muscles of the eye; and also sends parasympathetic efferents to the muscles controlling pupillary constriction and accommodation oculomotor nerve abnormalities abnormal CN-III morphology oculomotor nerve dysplasia MPheno.ontology MP:0001061 abnormal oculomotor nerve morphology MP:0001061 any structural anomaly of the third cranial nerve, which normally sends motor fibers to the levator muscles of the eyelid and to the superior rectus, inferior rectus, and inferior oblique muscles of the eye; and also sends parasympathetic efferents to the muscles controlling pupillary constriction and accommodation ISBN:0-683-40008-8 absence of the third cranial nerve, which normally sends motor fibers to the levator muscles of the eyelid and to the superior rectus, inferior rectus, and inferior oblique muscles of the eye absence of oculomotor nerve absent CN-III nerve MPheno.ontology MP:0001062 absent oculomotor nerve MP:0001062 absence of the third cranial nerve, which normally sends motor fibers to the levator muscles of the eyelid and to the superior rectus, inferior rectus, and inferior oblique muscles of the eye ISBN:0-683-40008-8 PMID:7925010 any structural anomaly of the fourth cranial nerve, which normally carries the motor innervation of the superior oblique muscles of the eye trochlear nerve abnormalities abnormal CN-IV morphology trochlear nerve dysplasia MPheno.ontology MP:0001063 abnormal trochlear nerve morphology MP:0001063 any structural anomaly of the fourth cranial nerve, which normally carries the motor innervation of the superior oblique muscles of the eye MESH:A08.800.800.120.800 MGI:cwg absence of the fourth cranial nerve, which normally carries the motor innervation of the superior oblique muscles of the eye absence of trochlear nerve absent CN-IV nerve MPheno.ontology MP:0001064 absent trochlear nerve MP:0001064 absence of the fourth cranial nerve, which normally carries the motor innervation of the superior oblique muscles of the eye ISBN:0-683-40008-8 PMID:7925010 any structural anomaly of the chief sensory nerve of the face and motor nerve of the muscles of mastication; has three major divisions: ophthalmic, maxillary and mandibular trigeminal nerve abnormalities abnormal CN-V morphology trigeminal nerve dysplasia MPheno.ontology MP:0001065 abnormal trigeminal nerve morphology MP:0001065 any structural anomaly of the chief sensory nerve of the face and motor nerve of the muscles of mastication; has three major divisions: ophthalmic, maxillary and mandibular ISBN:0-683-40008-8 ISBN:0838580343 lack of the chief sensory nerve of the face and motor nerve of the muscles of mastication; has three major divisions: ophthalmic, maxillary and mandibular absence of trigeminal nerve absent CN-V nerve MPheno.ontology MP:0001066 absent trigeminal nerve MP:0001066 lack of the chief sensory nerve of the face and motor nerve of the muscles of mastication; has three major divisions: ophthalmic, maxillary and mandibular ISBN:0-683-40008-8 missing third division of the trigeminal nerve absence of mandibular nerve MPheno.ontology MP:0001067 absent mandibular nerve MP:0001067 missing third division of the trigeminal nerve ISBN:0-683-40008-8 malformed or misprojected axons of the mandibular nerve abnormal branching of mandibular nerve MPheno.ontology MP:0001068 abnormal mandibular nerve branching MP:0001068 malformed or misprojected axons of the mandibular nerve ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 OBSOLETE. missing axonal connection from the trigeminal ganglion to the pons and medulla oblongata absence of trigeminal nerve connections to hindbrain MPheno.ontology MP:0001069 obsolete absent trigeminal nerve connections to hindbrain true MP:0001069 OBSOLETE. missing axonal connection from the trigeminal ganglion to the pons and medulla oblongata J:33038 any structural anomaly of the sixth cranial nerve, which originates in the abducens nucleus of the pons and sends motor fibers to the lateral rectus muscles of the eye abducens nerve abnormalities abnormal CN-VI morphology abducens nerve dysplasia MPheno.ontology MP:0001070 abnormal abducens nerve morphology MP:0001070 any structural anomaly of the sixth cranial nerve, which originates in the abducens nucleus of the pons and sends motor fibers to the lateral rectus muscles of the eye MESH:A08.800.800.120.030 MGI:cwg any structural anomaly of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue; principal branches are the superficial opthalmic, buccal, palatine and hyomandibular facial nerve abnormalities abnormal CN-VII morphology facial nerve dysplasia MPheno.ontology MP:0001071 abnormal facial nerve morphology MP:0001071 any structural anomaly of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue; principal branches are the superficial opthalmic, buccal, palatine and hyomandibular ISBN:0-683-40008-8 ISBN:0838580343 PMID:7477377 any structural anomaly in the composite sensory nerve innervating the receptor cells of the membranous labyrinth; it consists of two major, anatomically and functionally distinct components, each of which have different central connections: the vestibular nerve and the cochlear nerve vestibulocochlear nerve abnormalities abnormal CN-VIII morphology abnormal eighth cranial nerve [CN VIII] morphology abnormal eighth nerve morphology abnormal nervus acusticus [CN VIII] morphology abnormal nervus octavus [CN VIII] morphology abnormal nervus statoacusticus [CN VIII] morphology abnormal nervus vestibulocochlearis [CN VIII] morphology abnormal octavus morphology abnormal statoacoustic nerve morphology vestibulocochlear nerve dysplasia MPheno.ontology MP:0001072 abnormal vestibulocochlear nerve morphology MP:0001072 any structural anomaly in the composite sensory nerve innervating the receptor cells of the membranous labyrinth; it consists of two major, anatomically and functionally distinct components, each of which have different central connections: the vestibular nerve and the cochlear nerve ISBN:0-683-40008-8 PMID:1680563 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue; the branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion glossopharyngeal nerve abnormalities abnormal CN-IX morphology glossopharyngeal nerve dysplasia MPheno.ontology MP:0001073 abnormal glossopharyngeal nerve morphology MP:0001073 any structural anomaly of the sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue; the branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion ISBN:0838580343 any structural anomaly of the autonomic, sensory and motor axons of the tenth cranial nerve; it is primarily sensory but also has visceromotor components; it originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components, and also controls some motor functions such as speech; the sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis vagus nerve abnormalities abnormal CN-X morphology abnormal vagal nerve morphology vagus nerve dysplasia MPheno.ontology MP:0001074 abnormal vagus nerve morphology MP:0001074 any structural anomaly of the autonomic, sensory and motor axons of the tenth cranial nerve; it is primarily sensory but also has visceromotor components; it originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components, and also controls some motor functions such as speech; the sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis ISBN:0838580343 any structural anomaly of the eleventh cranial nerve, which normally originates from neurons in the medulla and in the cervical spinal cord spinal accessory nerve abnormalities abnormal CN-XI morphology abnormal spinal accessory nerve morphology accessory nerve dysplasia spinal accessory nerve dysplasia MPheno.ontology MP:0001075 abnormal accessory nerve morphology MP:0001075 any structural anomaly of the eleventh cranial nerve, which normally originates from neurons in the medulla and in the cervical spinal cord MESH:A08.800.800.120.060 MGI:cwg any structural anomaly of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue hypoglossal nerve abnormalities abnormal CN-XII morphology hypoglossal nerve dysplasia MPheno.ontology MP:0001076 abnormal hypoglossal nerve morphology MP:0001076 any structural anomaly of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue ISBN:0-683-40008-8 PMID:9362461 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the any of the 31 paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment abnormal spinal nerves spinal nerve abnormalities spinal nerve dysplasia MPheno.ontology MP:0001077 abnormal spinal nerve morphology MP:0001077 any structural anomaly of the any of the 31 paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment MESH:A08.800.800.720 any structural anomaly of motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues phrenic nerve dysplasia MPheno.ontology MP:0001078 abnormal phrenic nerve morphology MP:0001078 any structural anomaly of motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 absence of the motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues absence of phrenic nerve MPheno.ontology MP:0001079 absent phrenic nerve MP:0001079 absence of the motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 misprojection or failure to bundle the motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues MPheno.ontology MP:0001080 defasiculated phrenic nerve MP:0001080 misprojection or failure to bundle the motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the groups of nerve cell bodies associated with the twelve cranial nerves cranial ganglia abnormalities cranial ganglia dysplasia MPheno.ontology MP:0001081 abnormal cranial ganglia morphology MP:0001081 any structural anomaly of the groups of nerve cell bodies associated with the twelve cranial nerves ISBN:0-683-40008-8 PMID:9362461 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve) abnormal cranial ganglion VII morphology abnormal geniculate ganglia morphology abnormal geniculate ganglion of facial (VII) nerve morphology geniculate ganglia dysplasia MPheno.ontology MP:0001082 abnormal geniculate ganglion morphology MP:0001082 any structural anomaly of the group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve) ISBN:0-683-40008-8 reduced size of the geniculate ganglion or decreased size of sensory neuron cell bodies associated with the facial nerve decreased geniculate ganglion size small cranial ganglion VII small geniculate ganglion of facial (VII) nerve MPheno.ontology MP:0001083 small geniculate ganglion MP:0001083 reduced size of the geniculate ganglion or decreased size of sensory neuron cell bodies associated with the facial nerve ISBN:0-683-40008-8 any structural anomaly of the larger, lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve MP:0001099 abnormal extracraniale ganglion morphology abnormal inferior glossopharyngeal ganglion morphology abnormal inferior glossopharyngeal ganglion of the glossopharyngeal (IX) nerve morphology abnormal petrosal ganglia morphology petrosal ganglion dysplasia MPheno.ontology MP:0001084 abnormal petrosal ganglion morphology MP:0001084 any structural anomaly of the larger, lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve ISBN:0-683-40008-8 PMID:9362461 reduced size of the lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve reduced petrosal ganglion size small extracraniale ganglion small inferior glossopharyngeal ganglion small inferior glossopharyngeal ganglion of the glossopharyngeal (IX) nerve small petrosal ganglia MPheno.ontology MP:0001085 small petrosal ganglion MP:0001085 reduced size of the lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve ISBN:0-683-40008-8 PMID:9362461 absence of the lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve absent extracraniale ganglion absent inferior glossopharyngeal ganglion absent inferior glossopharyngeal ganglion of the glossopharyngeal (IX) nerve absent petrosal ganglia MPheno.ontology MP:0001086 absent petrosal ganglion MP:0001086 absence of the lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve ISBN:0-683-40008-8 PMID:9362461 any structural anomaly of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve) MP:0001103 abnormal cranial ganglion X morphology abnormal inferior vagus ganglion morphology abnormal inferior vagus ganglion of the vagus (X) nerve morphology abnormal nodose ganglia morphology nodose ganglion dysplasia MPheno.ontology MP:0001087 abnormal nodose ganglion morphology MP:0001087 any structural anomaly of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve) ISBN:0-683-40008-8 PMID:9362461 reduced size of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve) small cranial ganglion X decreased nodose ganglion size reduced nodose ganglion size small inferior vagus ganglion small inferior vagus ganglion of the vagus (X) nerve small nodose ganglia MPheno.ontology MP:0001088 small nodose ganglion MP:0001088 reduced size of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve) ISBN:0-683-40008-8 PMID:9362461 absence of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve) absent cranial ganglion X absent inferior vagus ganglion absent inferior vagus ganglion of the vagus (X) nerve absent nodose ganglia MPheno.ontology MP:0001089 absent nodose ganglion MP:0001089 absence of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve) ISBN:0-683-40008-8 PMID:9362461 true MP:0001090 OBSOLETE. MP:0003703 MPheno.ontology MP:0001091 obsolete small vestibular cochlear ganglion true MP:0001091 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve) abnormal Gasserian ganglion morphology abnormal cranial ganglion V morphology abnormal semi-lunar ganglion morphology abnormal semilunar ganglion morphology abnormal trigeminal ganglia morphology abnormal trigeminal ganglion of trigeminal (V) nerve morphology trigeminal ganglion dysplasia MPheno.ontology MP:0001092 abnormal trigeminal ganglion morphology MP:0001092 any structural anomaly of the group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve) ISBN:0-683-40008-8 reduced size of the trigeminal ganglion decreased trigeminal ganglion size small Gasserian ganglion small cranial ganglion V small semi-lunar ganglion small semilunar ganglion small trigeminal ganglia small trigeminal ganglion of trigeminal (V) nerve MPheno.ontology MP:0001093 small trigeminal ganglion MP:0001093 reduced size of the trigeminal ganglion J:17123 J:25565 increased bulk size due to increased cell size of the trigeminal ganglion Gasserian ganglion hypertrophy cranial ganglion V hypertrophy hypertrophy of trigeminal ganglion semi-lunar ganglion hypertrophy semilunar ganglion hypertrophy trigeminal ganglia hypertrophy trigeminal ganglion of trigeminal (V) nerve hypertrophy MPheno.ontology MP:0001094 trigeminal ganglion hypertrophy MP:0001094 increased bulk size due to increased cell size of the trigeminal ganglion J:34172 increased size of the group of sensory neuron cell bodies associated with the trigeminal nerve enlarged Gasserian ganglion enlarged cranial ganglion V enlarged semi-lunar ganglion enlarged semilunar ganglion enlarged trigeminal ganglia enlarged trigeminal ganglion of trigeminal (V) nerve increased trigeminal ganglion size MPheno.ontology MP:0001095 enlarged trigeminal ganglion MP:0001095 increased size of the group of sensory neuron cell bodies associated with the trigeminal nerve J:17131 any structural anomaly of the two groups of sensory neuron cell bodies associated with the ninth cranial nerve abnormal cranial ganglion IX morphology abnormal glossopharyngeal ganglia morphology glossopharyngeal ganglia dysplasia glossopharyngeal ganglion dysplasia MPheno.ontology MP:0001096 abnormal glossopharyngeal ganglion morphology MP:0001096 any structural anomaly of the two groups of sensory neuron cell bodies associated with the ninth cranial nerve ISBN:0-683-40008-8 any structural anomaly of the upper, smaller ganglion of the glossopharyngeal nerve located at the jugular foramen abnormal jugular ganglion morphology abnormal intracranial ganglion morphology abnormal superior glossopharyngeal ganglia morphology abnormal superior glossopharyngeal ganglion of the glossopharyngeal (IX) nerve morphology superior glossopharyngeal ganglia dysplasia MPheno.ontology MP:0001097 abnormal superior glossopharyngeal ganglion morphology MP:0001097 any structural anomaly of the upper, smaller ganglion of the glossopharyngeal nerve located at the jugular foramen ISBN:0-683-40008-8 reduced size of the upper ganglion of the glossopharyngeal nerve located at the jugular foramen small jugular ganglion decreased superior glossopharyngeal ganglia size decreased superior glossopharyngeal ganglion size small intracranial ganglion small superior glossopharyngeal ganglia small superior glossopharyngeal ganglion of the glossopharyngeal (IX) nerve MPheno.ontology MP:0001098 small superior glossopharyngeal ganglion MP:0001098 reduced size of the upper ganglion of the glossopharyngeal nerve located at the jugular foramen ISBN:0-683-40008-8 J:18984 true MP:0001099 any structural anomaly of the group of sensory neuron cell bodies associated with the vagus nerve abnormal cranial ganglion X morphology abnormal vagus ganglia morphology vagus ganglia dysplasia vagus ganglion dysplasia MPheno.ontology MP:0001100 abnormal vagus ganglion morphology MP:0001100 any structural anomaly of the group of sensory neuron cell bodies associated with the vagus nerve ISBN:0-683-40008-8 any structural anomaly of the upper ganglion of the vagus nerve located at the jugular foramen abnormal jugular ganglion morphology abnormal superior vagus ganglia morphology abnormal superior vagus ganglion of the vagus (X) nerve morphology jugular ganglion dysplasia superior vagus ganglion dysplasia MPheno.ontology MP:0001101 abnormal superior vagus ganglion morphology MP:0001101 any structural anomaly of the upper ganglion of the vagus nerve located at the jugular foramen ISBN:0-683-40008-8 reduced size of the upper ganglion of the vagus nerve located at the jugular foramen small jugular ganglion decreased superior vagus ganglion size small superior vagus ganglia small superior vagus ganglion of the vagus (X) nerve MPheno.ontology MP:0001102 small superior vagus ganglion MP:0001102 reduced size of the upper ganglion of the vagus nerve located at the jugular foramen ISBN:0-683-40008-8 J:18984 true MP:0001103 true MP:0001104 any structural anomaly of non-neuronal cells that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons PNS glia abnormalities abnormal neuroglia morphology abnormal PNS glia morphology MPheno.ontology MP:0001105 abnormal PNS glial cell morphology MP:0001105 any structural anomaly of non-neuronal cells that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons MESH:A08.637 any structural anomaly of the cells which form the insulating myelin sheaths of peripheral axons Schwann cell abnormalities abnormal Schwann cells MPheno.ontology MP:0001106 abnormal Schwann cell morphology MP:0001106 any structural anomaly of the cells which form the insulating myelin sheaths of peripheral axons MESH:A08.637.800 fewer than normal number of cells that sheath the axons of the peripheral nervous system reduced Schwann cell number MPheno.ontology MP:0001107 decreased Schwann cell number MP:0001107 fewer than normal number of cells that sheath the axons of the peripheral nervous system PMID:7477375 missing cells that sheath the axons of the peripheral nervous system absence of Schwann cells MPheno.ontology MP:0001108 absent Schwann cells MP:0001108 missing cells that sheath the axons of the peripheral nervous system J:43515 missing progenitors of cells that sheath the axons of the peripheral nervous system absence of Schwann cell precursors MPheno.ontology MP:0001109 absent Schwann cell precursors MP:0001109 missing progenitors of cells that sheath the axons of the peripheral nervous system J:43515 true MP:0001110 true MP:0001111 true MP:0001112 true MP:0001113 true MP:0001114 true MP:0001115 reduced size of the testis or the ovary decreased gonad size reduced gonad size MPheno.ontology MP:0001116 small gonad MP:0001116 reduced size of the testis or the ovary ISBN:0-683-40008-8 J:34193 absence of mature reproductive cells, ovum or spermatozoon, capable of fusing with a cell of similar origin, but opposite sex to give a zygote absence of gametes MPheno.ontology MP:0001117 absent gametes MP:0001117 absence of mature reproductive cells, ovum or spermatozoon, capable of fusing with a cell of similar origin, but opposite sex to give a zygote ISBN:0-683-40008-8 true MP:0001118 any structural anomaly of the organs associated with producing offspring in the sex that bears the offspring abnormal female reproductive anatomy morphology female reproductive anatomy dysplasia MPheno.ontology MP:0001119 abnormal female reproductive system morphology MP:0001119 any structural anomaly of the organs associated with producing offspring in the sex that bears the offspring ISBN:0-683-40008-8 any structural anomaly of the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth abnormal metra morphology abnormal uterine morphology uterine dysplasia uterus dysplasia MPheno.ontology MP:0001120 abnormal uterus morphology MP:0001120 any structural anomaly of the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the uterus, typically resulting in decreased size MP:0003573 hypoplasia of the uterus hypoplastic uterus metra hypoplasia metral hypoplasia rudimentary metra rudimentary uterus uterine hypoplasia MPheno.ontology MP:0001121 uterus hypoplasia MP:0001121 decrease in the number of normal cells in normal arrangement in the uterus, typically resulting in decreased size J:45065 true MP:0001122 stretched or widened luminal space of the female muscular organ of gestation dilated metra dilated uteri metra dilation uterine dilation uterus dilation MPheno.ontology MP:0001123 dilated uterus MP:0001123 stretched or widened luminal space of the female muscular organ of gestation J:50844 anomaly of any mature reproductive cell, ovum or spermatozoon, capable of fusing with a cell of similar origin, but opposite sex, to produce a zygote MPheno.ontology MP:0001124 abnormal gametes MP:0001124 anomaly of any mature reproductive cell, ovum or spermatozoon, capable of fusing with a cell of similar origin, but opposite sex, to produce a zygote ISBN:0-683-40008-8 any structural anomaly of the mature germ cells in the female abnormal oocytes MPheno.ontology MP:0001125 abnormal oocyte morphology MP:0001125 any structural anomaly of the mature germ cells in the female ISBN:0-683-40008-8 any structural anomaly of the female reproductive gland containing the germ cells abnormal gonad morphology abnormal ovaries abnormal ovarian morphology ovarian dysplasia ovary dysplasia MPheno.ontology MP:0001126 abnormal ovary morphology MP:0001126 any structural anomaly of the female reproductive gland containing the germ cells ISBN:0-683-40008-8 reduced size of the female reproductive gland containing the germ cells decreased ovary size reduced ovary size small ovaries MPheno.ontology MP:0001127 small ovary MP:0001127 reduced size of the female reproductive gland containing the germ cells ISBN:0-683-40008-8 increase in the number of normal cells in normal arrangement in the ovary, typically resulting in increased size hyperplastic ovaries hyperplastic ovary ovarian hyperplasia MPheno.ontology MP:0001128 ovary hyperplasia MP:0001128 increase in the number of normal cells in normal arrangement in the ovary, typically resulting in increased size ISBN:0-683-40008-8 a block in the formation of the spherical ovum in the ovary MP:0001122 impaired folliculogenesis impaired ovary folliculogenesis MPheno.ontology MP:0001129 impaired ovarian folliculogenesis MP:0001129 a block in the formation of the spherical ovum in the ovary ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 atypical formation or failure to form the spherical ovum in the ovary abnormal folliculogenesis abnormal ovary folliculogenesis MPheno.ontology MP:0001130 abnormal ovarian folliculogenesis MP:0001130 atypical formation or failure to form the spherical ovum in the ovary ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the sac-like structure in the ovary which surrounds an ovum abnormal ovarian follicles abnormal growing ovarian follicle morphology ovarian follicle dysplasia MPheno.ontology MP:0001131 abnormal ovarian follicle morphology MP:0001131 any structural anomaly of the sac-like structure in the ovary which surrounds an ovum ISBN:0-683-40008-8 absence of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle absence of mature ovarian follicles MPheno.ontology MP:0001132 absent mature ovarian follicles MP:0001132 absence of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle https://orcid.org/0000-0002-6490-7723 abnormal development of the cells of the corpus luteum of the ovary MPheno.ontology MP:0001133 impaired luteal cell differentiation MP:0001133 abnormal development of the cells of the corpus luteum of the ovary ISBN:0-683-40008-8 PMID:8646780 absence of the yellow endocrine body formed in the ovary after follicle rupture absent corpora lutea MPheno.ontology MP:0001134 absent corpus luteum MP:0001134 absence of the yellow endocrine body formed in the ovary after follicle rupture ISBN:0-683-40008-8 any structural anomaly of the lower opening of the uterus to the vagina abnormal cervix morphology cervix dysplasia abnormal canalis cervicis uteri morphology abnormal caudal segment of uterus morphology abnormal cervical canal morphology abnormal cervical canal of uterus morphology abnormal cervix uteri morphology abnormal neck of uterus morphology MPheno.ontology MP:0001135 abnormal uterine cervix morphology MP:0001135 any structural anomaly of the lower opening of the uterus to the vagina MGI:tc stretched or widened aperture of the lower opening of the uterus to the vagina cervix dilation dilated cervix cervical canal dilation dilated canalis cervicis uteri dilated caudal segment of uterus dilated cervical canal dilated cervical canal of uterus dilated cervix uteri dilated neck of uterus uterine cervix dilation MPheno.ontology MP:0001136 dilated uterine cervix MP:0001136 stretched or widened aperture of the lower opening of the uterus to the vagina https://orcid.org/0000-0002-6490-7723 any structural anomaly of the epithelial layer of the cervix abnormal cervical epithelium morphology abnormal cervix epithelium morphology cervical epithelium dysplasia cervix epithelium dysplasia MPheno.ontology MP:0001137 abnormal uterine cervix epithelium morphology MP:0001137 any structural anomaly of the epithelial layer of the cervix MGI:tc any structural anomaly of the scaly epithelial layer of the cervix abnormal cervical squamous epithelium morphology abnormal cervix squamous epithelium morphology cervical squamous epithelium dysplasia cervix squamous epithelium dysplasia MPheno.ontology MP:0001138 abnormal uterine cervix squamous epithelium morphology MP:0001138 any structural anomaly of the scaly epithelial layer of the cervix MGI:tc any structural anomaly of the part of the genital canal in the female that extends between the cervix of the uterus and the vestibule; it is an organ of copulation that receives the penis during sexual intercourse abnormal vaginal morphology vaginal dysplasia MPheno.ontology MP:0001139 abnormal vagina morphology MP:0001139 any structural anomaly of the part of the genital canal in the female that extends between the cervix of the uterus and the vestibule; it is an organ of copulation that receives the penis during sexual intercourse ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the epithelial layer of the vagina abnormal vaginal epithelium morphology MPheno.ontology MP:0001140 abnormal vagina epithelium morphology MP:0001140 any structural anomaly of the epithelial layer of the vagina MGI:tc PMID:10227294 increased depth of the vaginal epithelial layer MPheno.ontology MP:0001141 thickened vaginal epithelium MP:0001141 increased depth of the vaginal epithelial layer PMID:1709129 any structural anomaly of the median slit located inferior and posterior to the external urethral orifice in the female; the exit for menstrual flow and birth and the entrance for the penis during sexual intercourse; the size and appearance of the vaginal orifice varies inversely with that of the hymen (G. membrane), a thin fold of mucous membrane that surrounds the vaginal orifice abnormal introitus of vagina morphology abnormal orificium vaginae morphology abnormal ostium vaginae morphology abnormal vagina opening abnormal vaginal introitus morphology abnormal vaginal opening abnormal vaginal orifice morphology MPheno.ontology MP:0001142 abnormal vagina orifice morphology MP:0001142 any structural anomaly of the median slit located inferior and posterior to the external urethral orifice in the female; the exit for menstrual flow and birth and the entrance for the penis during sexual intercourse; the size and appearance of the vaginal orifice varies inversely with that of the hymen (G. membrane), a thin fold of mucous membrane that surrounds the vaginal orifice https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 shrunken, narrowed external median slit located inferior and posterior to the external urethral orifice in the female constricted vagina opening constricted vaginal introitus constricted vaginal opening MPheno.ontology MP:0001143 constricted vagina orifice MP:0001143 shrunken, narrowed external median slit located inferior and posterior to the external urethral orifice in the female https://orcid.org/0000-0002-6490-7723 imperforation or occlusion of the vagina, or adhesion of the walls of the vagina colpatresia complete failure of vagina opening fused vagina opening imperforate vagina vaginal atresia MPheno.ontology closed vagina fused vaginal opening MP:0001144 vagina atresia MP:0001144 imperforation or occlusion of the vagina, or adhesion of the walls of the vagina https://orcid.org/0000-0002-6490-7723 any structural anomaly of the organs associated with producing offspring in the sex that produces spermatozoa abnormal male reproductive anatomy abnormality of male external genitalia male reproductive anatomy dysplasia MPheno.ontology MP:0001145 abnormal male reproductive system morphology MP:0001145 any structural anomaly of the organs associated with producing offspring in the sex that produces spermatozoa ISBN:0-683-40008-8 any structural anomaly of the male reproductive glands MP:0003206 abnormal gonad morphology abnormality of the testis abnormal didymus morphology abnormal male gonad morphology abnormal orchis morphology abnormal testes morphology abnormal testicle morphology abnormal testiculus morphology testicular dysplasia testis dysplasia MPheno.ontology MP:0001146 abnormal testis morphology MP:0001146 any structural anomaly of the male reproductive glands ISBN:0-683-40008-8 reduced size of the male reproductive glands decreased testis size microorchidism microrchidia reduced testis size small male gonad small testes small testicles MPheno.ontology male hypogonadism MP:0001147 small testis MP:0001147 reduced size of the male reproductive glands ISBN:0-683-40008-8 increased size of the male reproductive glands enlarged didymus enlarged male gonad enlarged testes enlarged testicles increased testis size macroorchidism MPheno.ontology MP:0001148 enlarged testis MP:0001148 increased size of the male reproductive glands ISBN:0-683-40008-8 increase in the number of normal cells in normal arrangement in the testes, typically resulting in increased size hyperplastic male gonad hyperplastic testes hyperplastic testicles testis hyperplasia MPheno.ontology MP:0001149 testicular hyperplasia MP:0001149 increase in the number of normal cells in normal arrangement in the testes, typically resulting in increased size ISBN:0-683-40008-8 increased size of the external sac of skin that encloses the testes increased scrotum size MPheno.ontology MP:0001150 enlarged scrotum MP:0001150 increased size of the external sac of skin that encloses the testes ISBN:0-683-40008-8 PMID:1709129 increased size of the loose fold of skin that covers the penis increased foreskin size MPheno.ontology MP:0001151 enlarged foreskin MP:0001151 increased size of the loose fold of skin that covers the penis PMID:1709129 increased number of the interstitial cells found adjacent to the seminiferous tubules in the testicle that produce testosterone in the presence of luteinizing hormone Leydig cell hyperplasia MPheno.ontology MP:0001152 increased Leydig cell number MP:0001152 increased number of the interstitial cells found adjacent to the seminiferous tubules in the testicle that produce testosterone in the presence of luteinizing hormone https://orcid.org/0000-0002-0371-1954 reduced diameter of the tubules in the testes where spermatogenesis occurs narrow seminiferous tubules MPheno.ontology MP:0001153 small seminiferous tubules MP:0001153 reduced diameter of the tubules in the testes where spermatogenesis occurs https://orcid.org/0000-0003-4606-0597 a retrogressive impairment of function or destruction of the tubules in the testes where spermatogenesis occurs degeneration of seminiferous tubules MPheno.ontology MP:0001154 seminiferous tubule degeneration MP:0001154 a retrogressive impairment of function or destruction of the tubules in the testes where spermatogenesis occurs https://orcid.org/0000-0003-3691-0324 block of the process by which spermatogonial stem cells divide and differentiate into spermatozoa MPheno.ontology MP:0001155 arrest of spermatogenesis MP:0001155 block of the process by which spermatogonial stem cells divide and differentiate into spermatozoa J:62271 incomplete maturation or aberrant formation of the male gametes abnormal sperm development MPheno.ontology MP:0001156 abnormal spermatogenesis MP:0001156 incomplete maturation or aberrant formation of the male gametes J:58959 reduced size of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens MP:0000657 decreased seminal vesicle size small seminal vesicles MPheno.ontology small seminal gland MP:0001157 small seminal vesicle MP:0001157 reduced size of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens ISBN:0-683-40008-8 MGI:cwg any structural anomaly of the gland in males that secretes part of the seminiferous fluid MP:0000658 MA:0000404 abnormal prostate morphology prostate dysplasia prostate gland dysplasia MPheno.ontology MP:0001158 abnormal prostate gland morphology MP:0001158 any structural anomaly of the gland in males that secretes part of the seminiferous fluid ISBN:0-683-40008-8 PMID:10906459 missing gland in males that secretes part of the seminiferous fluid absence of prostate gland absent prostate MPheno.ontology MP:0001159 absent prostate gland MP:0001159 missing gland in males that secretes part of the seminiferous fluid ISBN:0-683-40008-8 true MP:0001160 true MP:0001161 true MP:0001162 any structural anomaly of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles MP:0000663 MA:0002422 abnormal AP morphology abnormal CG morphology abnormal anterior prostate morphology abnormal coagulating gland morphology MPheno.ontology MP:0001163 In rodents, the prostate gland consists of three lobes, the anterior prostate (AP; also known as the coagulating gland), the dorsolateral prostate (DLP), and the ventral prostate (VP). These lobes are arranged circumferentially around the urethra and display characteristic patterns of ductal branching and protein secretion (PMID:3308446). In contrast, the adult human prostate lacks discernible lobular organization and, instead, completely envelops the urethra at the base of the bladder (PMID:3308446). abnormal prostate gland anterior lobe morphology MP:0001163 any structural anomaly of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles PMID:12645922 PMID:3308446 true MP:0001164 true MP:0001165 true MP:0001166 epithelium is multi-layered instead of columnar and has increased cell number MP:0000667 hyperplastic prostate gland epithelium prostate epithelial hyperplasia MPheno.ontology MP:0001167 prostate gland epithelial hyperplasia MP:0001167 epithelium is multi-layered instead of columnar and has increased cell number PMID:10906459 any structural anomaly of the prostate epithelium MP:0000668 MA:0001737 abnormal prostate epithelium morphology prostate epithelial dysplasia MPheno.ontology MP:0001168 abnormal prostate gland epithelium morphology MP:0001168 any structural anomaly of the prostate epithelium PMID:10906459 any structural anomaly of any of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; they secrete a clear fluid known as pre-ejaculate (Cowper's fluid), and are homologous to the greater vestibular (Bartholin's) glands in the female MP:0000669 abnormal Cowper's gland morphology abnormal Mery gland morphology abnormal bulbo-urethral gland morphology abnormal glandula bulbourethralis morphology bulbourethral gland dysplasia MPheno.ontology MP:0001169 abnormal bulbourethral gland morphology MP:0001169 any structural anomaly of any of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; they secrete a clear fluid known as pre-ejaculate (Cowper's fluid), and are homologous to the greater vestibular (Bartholin's) glands in the female https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the bulbourethral gland, typically resulting in increased size MP:0000670 Cowper's gland hyperplasia Mery gland hyperplasia bulbo-urethral gland hyperplasia hyperplastic Cowper's gland hyperplastic bulbourethral gland MPheno.ontology MP:0001170 bulbourethral gland hyperplasia MP:0001170 increase in the number of normal cells in normal arrangement in the bulbourethral gland, typically resulting in increased size ISBN:0-683-40008-8 PMID:10906459 true MP:0001171 true MP:0001172 OBSOLETE. fewer than the normal number of cells found in the ducts through which the bulbourethral glands discharge mucus into the spongy part of the urethra MP:0001169 MP:0000673 reduced number of ductal cells in the Cowper's gland reduced number of ductal cells of the bulbourethral gland MPheno.ontology MP:0001173 obsolete decreased number of ductal cells of the bulbourethral gland true MP:0001173 OBSOLETE. fewer than the normal number of cells found in the ducts through which the bulbourethral glands discharge mucus into the spongy part of the urethra ISBN:0-683-40008-8 true MP:0001174 any structural anomaly of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs abnormal lung lung dysplasia MPheno.ontology MP:0001175 abnormal lung morphology MP:0001175 any structural anomaly of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs ISBN:0-683-40008-8 anomaly in the process of formation of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs MPheno.ontology MP:0001176 abnormal lung development MP:0001176 anomaly in the process of formation of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs ISBN:0-683-40008-8 decrease or absent air in the entire or part of a lung, with resulting loss of lung volume, due to trauma, blockage or congenital defect collapsed lung pulmonary collapse MPheno.ontology MP:0001177 atelectasis MP:0001177 decrease or absent air in the entire or part of a lung, with resulting loss of lung volume, due to trauma, blockage or congenital defect ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the lung, typically resulting in decreased size hypoplastic lung lung hypoplasia MPheno.ontology MP:0001178 pulmonary hypoplasia MP:0001178 decrease in the number of normal cells in normal arrangement in the lung, typically resulting in decreased size ISBN:0-397-51047-0 MGI:cwg increased width of the tissue intervening between two adjacent pulmonary alveoli, which consists of the basement membranes of alveolar-lining epithelium (mostly type I pneumocytes) and capillary endothelium thick alveolar septa thick alveolar septum thick interalveolar septum thick septum interalveolare MPheno.ontology MP:0001179 thick pulmonary interalveolar septum MP:0001179 increased width of the tissue intervening between two adjacent pulmonary alveoli, which consists of the basement membranes of alveolar-lining epithelium (mostly type I pneumocytes) and capillary endothelium https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001180 obsolete cellular infiltration of airway walls true MP:0001180 OBSOLETE. https://orcid.org/0000-0003-3691-0324 absence of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs Fyler:4206 absence of lungs MPheno.ontology MP:0001181 absent lungs MP:0001181 absence of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs ISBN:0-683-40008-8 bleeding within the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs lung haemorrhage pulmonary bleeding pulmonary haemorrhage pulmonary hemorrhage MPheno.ontology MP:0001182 lung hemorrhage MP:0001182 bleeding within the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs ISBN:0-683-40008-8 expanded volume of one or more of the saclike terminal dilations of the respiratory bronchioles, alveolar ducts and alveolar sacs across which gas exchance occurs between alveolar air and the pulmonary capillaries overexpanded pulmonary alveoli overexpanded respiratory alveoli overexpanded respiratory alveolus MPheno.ontology alveoli dilation alveolus dilation dilated alveoli dilated alveolus enlarged alveoli enlarged alveolus MP:0001183 overexpanded pulmonary alveolus MP:0001183 expanded volume of one or more of the saclike terminal dilations of the respiratory bronchioles, alveolar ducts and alveolar sacs across which gas exchance occurs between alveolar air and the pulmonary capillaries ISBN:0-683-40008-8 absence of the saclike terminal dilation of the respiratory bronchioles, alveolar ducts and alveolar sacs across which gas exchance occurs between alveolar air and the pulmonary capillaries MPheno.ontology absent respiratory alveoli MP:0001184 absent pulmonary alveoli MP:0001184 absence of the saclike terminal dilation of the respiratory bronchioles, alveolar ducts and alveolar sacs across which gas exchance occurs between alveolar air and the pulmonary capillaries ISBN:0-683-40008-8 true MP:0001185 the observable morphological and physiological characteristics of mammalian organisms that are manifested through the deposition or aggregation of coloring matter in any tissue or cell of the organism MPheno.ontology MP:0001186 pigmentation phenotype MP:0001186 the observable morphological and physiological characteristics of mammalian organisms that are manifested through the deposition or aggregation of coloring matter in any tissue or cell of the organism KSU:jbengtson true MP:0001187 excess of pigment in any or all tissues or a part of a tissue MPheno.ontology MP:0001188 hyperpigmentation MP:0001188 excess of pigment in any or all tissues or a part of a tissue ISBN:0-683-40008-8 PMID:9778510 lack of pigmentation of the skin albino MPheno.ontology pale skin MP:0001189 absent skin pigmentation MP:0001189 lack of pigmentation of the skin PMID:9949198 skin has a more intense ruddy appearance than normal, often due to capillary congestion erythema erythematous skin MPheno.ontology MP:0001190 reddish skin MP:0001190 skin has a more intense ruddy appearance than normal, often due to capillary congestion PMID:10921880 any anomaly in the state or quality of the skin MPheno.ontology MP:0001191 abnormal skin condition MP:0001191 any anomaly in the state or quality of the skin MGI:cwg loss of the outer layer of the epidermis in thick, dry scale-like patches skin scales skin scaling MPheno.ontology MP:0001192 scaly skin MP:0001192 loss of the outer layer of the epidermis in thick, dry scale-like patches PMID:8941642 chronic skin lesions characterized by inflammation and silvery-scaly patches MPheno.ontology MP:0001193 psoriasis MP:0001193 chronic skin lesions characterized by inflammation and silvery-scaly patches ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 inflammation of the skin (redness and itching) caused by an allergic reaction or contact with an irritant MP:0001205 MP:0001206 inflamed skin irritated skin MPheno.ontology MP:0001194 dermatitis MP:0001194 inflammation of the skin (redness and itching) caused by an allergic reaction or contact with an irritant PMID:8941642 shedding flakes on the skin MPheno.ontology MP:0001195 flaky skin MP:0001195 shedding flakes on the skin J:56641 skin with a glossy or glistening appearance MPheno.ontology MP:0001196 shiny skin MP:0001196 skin with a glossy or glistening appearance J:56641 skin secreting an unusually high amount of oil, resulting in a glossy, shiny appearance greasy skin MPheno.ontology MP:0001197 oily skin MP:0001197 skin secreting an unusually high amount of oil, resulting in a glossy, shiny appearance https://orcid.org/0000-0003-3691-0324 greasy skin https://orcid.org/0000-0002-6490-7723 skin has a taut, stretched appearance constricted skin taut skin MPheno.ontology MP:0001198 tight skin MP:0001198 skin has a taut, stretched appearance PMID:10921880 reduced thickness of the outer protective layer of the body MPheno.ontology MP:0001199 thin skin MP:0001199 reduced thickness of the outer protective layer of the body ISBN:0-683-40008-8 greater thickness of the outer protective layer of the body MPheno.ontology MP:0001200 thick skin MP:0001200 greater thickness of the outer protective layer of the body ISBN:0-683-40008-8 skin that is more transparent to light than normal MPheno.ontology MP:0001201 translucent skin MP:0001201 skin that is more transparent to light than normal J:15108 abnormally heightened reactivity of the skin to sunlight MPheno.ontology MP:0001202 skin photosensitivity MP:0001202 abnormally heightened reactivity of the skin to sunlight ISBN:0-683-40008-8 increased incidence of aberrant or damaged cells due to irradiation induced genotoxic damage decreased resistance to skin irradiation skin irradiation sensitivity MPheno.ontology increased susceptibility to skin irradiation MP:0001203 increased sensitivity to skin irradiation MP:0001203 increased incidence of aberrant or damaged cells due to irradiation induced genotoxic damage PMID:9185996 decreased incidence of aberrant or damaged cells due to irradiation induced genotoxic damage increased resistance to skin irradiation skin irradiation resistance MPheno.ontology MP:0001204 decreased sensitivity to skin irradiation MP:0001204 decreased incidence of aberrant or damaged cells due to irradiation induced genotoxic damage PMID:9185996 true MP:0001205 true MP:0001206 true MP:0001207 accumulation of fluid- filled thin walled structures under the epidermis or within the epidermis blister skin blister skin vesicle MPheno.ontology MP:0001208 blistering MP:0001208 accumulation of fluid- filled thin walled structures under the epidermis or within the epidermis J:65039 unpredictable appearance of skin lesions, usually with inflammation skin ulceration MPheno.ontology MP:0001209 spontaneous skin ulceration MP:0001209 unpredictable appearance of skin lesions, usually with inflammation J:65302 long raised strips of skin, usually aligned to the proximal-distal axis thick skin ridges MPheno.ontology MP:0001210 skin ridges MP:0001210 long raised strips of skin, usually aligned to the proximal-distal axis J:51296 irregular folds and/or indentations on the skin MPheno.ontology MP:0001211 wrinkled skin MP:0001211 irregular folds and/or indentations on the skin PMID:7925010 focal pathological and/or inflammatory changes characterized by alteration in the size, shape and organization of the cellular components of the skin cutaneous lesions MPheno.ontology MP:0001212 skin lesions MP:0001212 focal pathological and/or inflammatory changes characterized by alteration in the size, shape and organization of the cellular components of the skin https://orcid.org/0000-0003-3691-0324 greater than or fewer than the expected numbers of cells in the cutis MPheno.ontology MP:0001213 abnormal skin cell number MP:0001213 greater than or fewer than the expected numbers of cells in the cutis MGI:cwg increase in the number of normal cells in normal arrangement in the skin, typically resulting in increased thickness hyperplastic skin MPheno.ontology MP:0001214 skin hyperplasia MP:0001214 increase in the number of normal cells in normal arrangement in the skin, typically resulting in increased thickness J:47225 decrease in the number of normal cells in normal arrangement in the skin, typically resulting in decreased size hypoplastic skin MPheno.ontology MP:0001215 skin hypoplasia MP:0001215 decrease in the number of normal cells in normal arrangement in the skin, typically resulting in decreased size ISBN:0-683-40008-8 any structural anomaly of the superficial epithelial portion of the skin MP:0001225 abnormal epidermis morphology epidermal dysplasia epidermal layer dysplasia MPheno.ontology MP:0001216 abnormal epidermal layer morphology MP:0001216 any structural anomaly of the superficial epithelial portion of the skin ISBN:0-683-40008-8 missing the epidermal cell layer in the skin loss of epidermal layer loss of epidermis absence of epidermal layer absence of epidermis MPheno.ontology MP:0001217 absent epidermis MP:0001217 missing the epidermal cell layer in the skin MGI:tc PMID:10227294 reduced thickness of the superficial epithelial portion of the skin MPheno.ontology MP:0001218 thin epidermis MP:0001218 reduced thickness of the superficial epithelial portion of the skin ISBN:0-683-40008-8 J:61790 increase in the width of the epidermal cell layer in the skin thickened epidermis MPheno.ontology MP:0001219 thick epidermis MP:0001219 increase in the width of the epidermal cell layer in the skin PMID:8941642 morphological changes resulting from pathological death of the epidermal layer of skin; usually due to irreversible damage epidermis necrosis necrotic skin epidermis MPheno.ontology MP:0001220 epidermal necrosis MP:0001220 morphological changes resulting from pathological death of the epidermal layer of skin; usually due to irreversible damage PMID:8941642 acquired diminution of the size of epidermal layer of the skin, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MPheno.ontology MP:0001221 epidermal atrophy MP:0001221 acquired diminution of the size of epidermal layer of the skin, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the epidermis, typically resulting in increased thickness hyperplastic epidermal layer MPheno.ontology MP:0001222 epidermal hyperplasia MP:0001222 increase in the number of normal cells in normal arrangement in the epidermis, typically resulting in increased thickness ISBN:0-683-40008-8 PMID:8941642 true MP:0001223 aberrant programmed cell death or anomaly in the number of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum GO:0006915 GO:0030216 MPheno.ontology MP:0001224 abnormal keratinocyte apoptosis MP:0001224 aberrant programmed cell death or anomaly in the number of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0001225 true MP:0001226 true MP:0001227 true MP:0001228 true MP:0001229 shedding of the cuticle of the epidermis in scales or shreds MPheno.ontology MP:0001230 epidermal desquamation MP:0001230 shedding of the cuticle of the epidermis in scales or shreds ISBN:0-683-40008-8 PMID:10469309 any structural anomaly of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells abnormal basal cell layer morphology abnormal basal layer morphology abnormal columnar layer morphology abnormal germinative layer morphology abnormal palisade layer morphology abnormal stratum basale epidermis morphology abnormal stratum cylindricum morphology abnormal stratum germinativum morphology epidermis basal cell layer dysplasia MPheno.ontology MP:0001231 abnormal epidermis stratum basale morphology MP:0001231 any structural anomaly of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells ISBN:0-683-40008-8 absence of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells absence of basal layer absent basal cell layer absent basal layer absent columnar layer absent germinative layer absent palisade layer absent stratum basale epidermis absent stratum cylindricum absent stratum germinativum MPheno.ontology MP:0001232 absent epidermis stratum basale MP:0001232 absence of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells ISBN:0-683-40008-8 any structural anomaly of the suprabasal layer of the epidermis abnormal suprabasal layer morphology MPheno.ontology MP:0001233 abnormal epidermis suprabasal layer morphology MP:0001233 any structural anomaly of the suprabasal layer of the epidermis PMID:10469309 absence of the suprabasal layer of the skin absence of suprabasal layer MPheno.ontology MP:0001234 absent suprabasal layer MP:0001234 absence of the suprabasal layer of the skin MGI:cwg derangement of the pattern of the suprabasal layer of the skin disorganised suprabasal layer MPheno.ontology MP:0001235 disorganized suprabasal layer MP:0001235 derangement of the pattern of the suprabasal layer of the skin MGI:cwg any structural anomaly of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance abnormal prickle cell layer morphology abnormal spinous layer morphology abnormal stratum spinosum morphology MPheno.ontology MP:0001236 abnormal epidermis stratum spinosum morphology MP:0001236 any structural anomaly of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance ISBN:0-683-40008-8 increased size of the immature keratinocytes of the spinous layer of the epidermis enlarged prickle cells enlarged spinous cell size increased prickle cell size MPheno.ontology MP:0001237 enlarged spinous cells MP:0001237 increased size of the immature keratinocytes of the spinous layer of the epidermis PMID:18197786 reduced thickness of the stratum spinosum; the polyhedral cell layer thin prickle cell layer thin spinous layer thin stratum spinosum MPheno.ontology thin epidermal spinous layer MP:0001238 thin epidermis stratum spinosum MP:0001238 reduced thickness of the stratum spinosum; the polyhedral cell layer ISBN:0-683-40008-8 any structural anomaly of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis abnormal granular layer morphology abnormal stratum granulosum morphology abnormal epidermal granular layer morphology epidermal granular layer dysplasia epidermis stratum granulosum dysplasia MPheno.ontology MP:0001239 abnormal epidermis stratum granulosum morphology MP:0001239 any structural anomaly of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis ISBN:0-683-40008-8 any structural anomaly of the outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells abnormal cornified layer morphology abnormal horny layer morphology abnormal stratum corneum morphology cornified layer dysplasia epidermis stratum corneum dysplasia MPheno.ontology MP:0001240 abnormal epidermis stratum corneum morphology MP:0001240 any structural anomaly of the outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells ISBN:0-683-40008-8 absence of the outer layer of the epidermis, composed of several layers of keratinized non-nucleated cells absence of cornified layer absent cornified layer absent horny layer absent stratum corneum MPheno.ontology MP:0001241 absent epidermis stratum corneum MP:0001241 absence of the outer layer of the epidermis, composed of several layers of keratinized non-nucleated cells ISBN:0-683-40008-8 thickening of the horny layer of the epidermis MP:0001223 epidermal hyperkeratosis thickened cornified layer thickened horny layer thickened stratum corneum thicker cornified layer thicker horny layer thicker stratum corneum MPheno.ontology MP:0001242 hyperkeratosis MP:0001242 thickening of the horny layer of the epidermis ISBN:0-683-40008-8 any structural anomaly or atypical condition of the dermal layer of the skin abnormal corium morphology abnormal cutis vera morphology abnormal dermis morphology dermal layer dysplasia MPheno.ontology MP:0001243 abnormal dermal layer morphology MP:0001243 any structural anomaly or atypical condition of the dermal layer of the skin ISBN:0-683-40008-8 PMID:10469309 reduced thickness of the dermis thin corium thin cutis vera thin dermis MPheno.ontology MP:0001244 thin dermal layer MP:0001244 reduced thickness of the dermis J:65030 increased depth of the dermis thick corium thick cutis vera thick dermis thickened corium thickened cutis vera thickened dermal layer thickened dermis MPheno.ontology MP:0001245 thick dermal layer MP:0001245 increased depth of the dermis J:65033 gradual accumulation of mixed cell types in the dermis that are not normally found there MPheno.ontology MP:0001246 mixed cellular infiltration to dermis MP:0001246 gradual accumulation of mixed cell types in the dermis that are not normally found there J:65416 presence of one or more abnormal membranous sacs in the dermis cystic dermis dermal cysts MPheno.ontology MP:0001247 dermal cyst MP:0001247 presence of one or more abnormal membranous sacs in the dermis J:53379 OBSOLETE. missing supporting framework of a tissue or the body; formed of fibrous or ground substance absence of connective tissue MPheno.ontology MP:0001248 obsolete absent connective tissue true MP:0001248 OBSOLETE. missing supporting framework of a tissue or the body; formed of fibrous or ground substance ISBN:0-683-40008-8 PMID:10469309 OBSOLETE. missing fat associated with the skin layers MP:0011156 absence of dermal adipose tissue MPheno.ontology MP:0001249 obsolete absent dermal adipose tissue true MP:0001249 OBSOLETE. missing fat associated with the skin layers PMID:7958926 true MP:0001250 increased cell density of the superficial layer hypercellularity of superficial dermis MPheno.ontology superficial dermis hypercellularity MP:0001251 dermis papillary layer hypercellularity MP:0001251 increased cell density of the superficial layer PMID:10469309 true MP:0001252 any anomaly in the shoulder to floor distance compared to controls GO:0040007 GO:0040014 abnormal height MPheno.ontology MP:0001253 abnormal body height MP:0001253 any anomaly in the shoulder to floor distance compared to controls MGI:dlb increased shoulder to floor distance compared to controls increased height MPheno.ontology MP:0001254 increased body height MP:0001254 increased shoulder to floor distance compared to controls MGI:dlb decreased shoulder to floor distance compared to controls MP:0001269 decreased height reduced body height reduced height short stature MPheno.ontology MP:0001255 decreased body height MP:0001255 decreased shoulder to floor distance compared to controls MGI:dlb any anomaly in the measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction abnormal length MPheno.ontology MP:0001256 abnormal body length MP:0001256 any anomaly in the measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction https://orcid.org/0000-0003-3691-0324 increased measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction increased length MPheno.ontology MP:0001257 increased body length MP:0001257 increased measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction https://orcid.org/0000-0003-3691-0324 decreased measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction decreased length reduced body length reduced length short trunk MPheno.ontology MP:0001258 decreased body length MP:0001258 decreased measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction https://orcid.org/0000-0003-3691-0324 anomaly in average weight compared to controls abnormal weight MPheno.ontology MP:0001259 abnormal body weight MP:0001259 anomaly in average weight compared to controls MGI:cwg greater than normal average weight high body weight increased weight MPheno.ontology MP:0001260 increased body weight MP:0001260 greater than normal average weight J:33400 a status with body weight that is grossly above the average, acceptable or desirable weight, usually due to accumulation of excess fat tissue in the body obesity MPheno.ontology MP:0001261 obese MP:0001261 a status with body weight that is grossly above the average, acceptable or desirable weight, usually due to accumulation of excess fat tissue in the body HP:0001513 MESH:D009765 lower than normal average weight decreased weight low body weight reduced body weight reduced weight MPheno.ontology MP:0001262 decreased body weight MP:0001262 lower than normal average weight PMID:10709991 progressive reduction of body weight below normal average for age MPheno.ontology MP:0001263 This term should be used when weight is lost in the absence of external interventions. weight loss MP:0001263 progressive reduction of body weight below normal average for age PMID:9420327 larger than average body weight, height and/or length of an organism compared to controls GO:0040007 GO:0040014 increased size large body size MPheno.ontology MP:0001264 increased body size MP:0001264 larger than average body weight, height and/or length of an organism compared to controls ISBN:0-683-40008-8 PMID:8646780 smaller than average body weight, height and/or length of an organism compared to controls GO:0040007 GO:0040014 decreased size reduced body size reduced size runt runted runting small body size dwarf MPheno.ontology MP:0001265 decreased body size MP:0001265 smaller than average body weight, height and/or length of an organism compared to controls ISBN:0-683-40008-8 PMID:7854452 true MP:0001266 wider diameter, or distended chest cavity increased chest size MPheno.ontology MP:0001267 enlarged chest MP:0001267 wider diameter, or distended chest cavity PMID:7926784 distended circumference of the thoracic and abdominal areas MPheno.ontology MP:0001268 barrel chest MP:0001268 distended circumference of the thoracic and abdominal areas PMID:10572046 true MP:0001269 abdomen appears curved outward or swollen bulging abdomen protruding abdomen MPheno.ontology MP:0001270 distended abdomen MP:0001270 abdomen appears curved outward or swollen https://orcid.org/0000-0003-3691-0324 true MP:0001271 greater likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it elevated metastatic potential increase in metastasis potential increase in potential to develop metastases MPheno.ontology MP:0001272 increased metastatic potential MP:0001272 greater likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 reduced likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it reduced metastatic potential reduction in metastasis potential reduction in potential to develop metastases MPheno.ontology MP:0001273 decreased metastatic potential MP:0001273 reduced likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 coiled or spiral shape of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors MP:0001275 curly contour hair curly sinus hair curly touch hair curly whiskers curved vibrissae curved whiskers MPheno.ontology MP:0001274 curly vibrissae MP:0001274 coiled or spiral shape of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors MESH:A13.950 PMID:9573048 true MP:0001275 true MP:0001276 snarled or intertwined stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors tangled contour hair tangled sinus hair tangled touch hair tangled whiskers MPheno.ontology MP:0001277 tangled vibrissae MP:0001277 snarled or intertwined stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors MESH:A13.950 https://orcid.org/0000-0003-3691-0324 sharp bends in the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors kinked contour hair kinked sinus hair kinked touch hair kinked whiskers MPheno.ontology MP:0001278 kinked vibrissae MP:0001278 sharp bends in the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors J:56641 undulations or a sinusoidal shape of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors wavy contour hair wavy sinus hair wavy touch hair wavy whiskers MPheno.ontology MP:0001279 wavy vibrissae MP:0001279 undulations or a sinusoidal shape of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors MESH:A13.950 https://orcid.org/0000-0003-3691-0324 inability to retain the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors loss of contour hair loss of sinus hair loss of touch hair loss of whiskers MPheno.ontology MP:0001280 loss of vibrissae MP:0001280 inability to retain the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors PMID:9420327 longer average length of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors increased contour hair length increased sinus hair length increased touch hair length increased whisker length MPheno.ontology MP:0001281 increased vibrissae length MP:0001281 longer average length of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors MESH:A13.950 https://orcid.org/0000-0003-3691-0324 decreased length of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors decreased contour hair length decreased sinus hair length decreased touch hair length decreased whisker length short contour hair short sinus hair short touch hair short whiskers MPheno.ontology MP:0001282 short vibrissae MP:0001282 decreased length of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors MESH:A13.950 https://orcid.org/0000-0003-3691-0324 few and widely spaced stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors sparse contour hair sparse sinus hair sparse touch hair sparse whiskers MPheno.ontology MP:0001283 sparse vibrissae MP:0001283 few and widely spaced stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors MESH:A13.950 https://orcid.org/0000-0003-3691-0324 absence of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors absence of vibrissae absent contour hair absent sinus hair absent touch hair MPheno.ontology absence of whiskers absent whiskers MP:0001284 absent vibrissae MP:0001284 absence of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors MESH:A13.950 PMID:7958926 https://orcid.org/0000-0003-3691-0324 true MP:0001285 malformation or arrest of differentiation of the visual organ GO:0001654 eye development abnormalities MPheno.ontology MP:0001286 abnormal eye development MP:0001286 malformation or arrest of differentiation of the visual organ ISBN:0-683-40008-8 PMID:9753320 https://orcid.org/0000-0003-3691-0324 true MP:0001287 any anomaly in the signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens lens induction abnormalities MPheno.ontology MP:0001288 abnormal lens induction MP:0001288 any anomaly in the signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens GO:0060235 failure of the degeneration of the transient vascular system of the eye during development, that normally nourishes the retina, immature lens and primary vitreous of the developing eye persistence of hyaloid capillary system MPheno.ontology MP:0001289 persistence of hyaloid vascular system MP:0001289 failure of the degeneration of the transient vascular system of the eye during development, that normally nourishes the retina, immature lens and primary vitreous of the developing eye PMID:18841878 late average time for the first postnatal eye opening delayed eye lid opening delayed eye opening MPheno.ontology MP:0001290 In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later. delayed eyelid opening MP:0001290 late average time for the first postnatal eye opening J:17792 true MP:0001291 malformation or abnormal patterning of the ectodermal invagination that forms opposite the optic cup in the primordium of the lens of the eye lens vesicle development abnormalities MPheno.ontology lenticular vesicle development MP:0001292 abnormal lens vesicle development MP:0001292 malformation or abnormal patterning of the ectodermal invagination that forms opposite the optic cup in the primordium of the lens of the eye ISBN:0-12-402035-6 absence of the globe and ocular tissue from the orbit, with or without the presence of ocular adnexa (eyelids, conjunctiva, and lacrimal apparatus); remnants of the globe sometimes appear in ectopic locations MP:0001298 Fyler:4864 absence of eyes absent eyes eyeless MPheno.ontology MP:0001293 anophthalmia MP:0001293 absence of the globe and ocular tissue from the orbit, with or without the presence of ocular adnexa (eyelids, conjunctiva, and lacrimal apparatus); remnants of the globe sometimes appear in ectopic locations https://orcid.org/0000-0003-3691-0324 true MP:0001294 true MP:0001295 increased average size of the eyes big eyes enlarged eyes increased eye size macrophthalamos MPheno.ontology MP:0001296 macrophthalmia MP:0001296 increased average size of the eyes https://orcid.org/0000-0003-3691-0324 reduced average size of one or both eyes; generally refers to a congenital defect Fyler:4877 decreased eye size microphthalmos small eyes MPheno.ontology MP:0001297 microphthalmia MP:0001297 reduced average size of one or both eyes; generally refers to a congenital defect PMID:7926784 true MP:0001298 abnormal placement of the eyes in relation to each other or in relation to other craniofacial structures eye distance/ position abnormalities MPheno.ontology MP:0001299 abnormal eye distance/ position MP:0001299 abnormal placement of the eyes in relation to each other or in relation to other craniofacial structures https://orcid.org/0000-0003-3691-0324 increased interpupillary distance, i.e. increased distance between the center of the pupils of the two eyes excessive orbital separation increased distance between the eye sockets increased distance between the eyes increased interorbital distance wide set eyes wide-set eyes widely spaced eyes widened interpupillary distance MPheno.ontology MP:0001300 ocular hypertelorism MP:0001300 increased interpupillary distance, i.e. increased distance between the center of the pupils of the two eyes HP:0000316 PMID:19125427 OBSOLETE. MP:0001389 eye movement abnormalities MPheno.ontology MP:0001301 obsolete abnormal eye movement true MP:0001301 OBSOLETE. https://orcid.org/0000-0003-3691-0324 open eyes instead of closed at perinatal stage; failure of the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye to fuse completely together during development and an individual is born with the eye(s) uncovered leading to degrees of injury and blindness MP:0001342 open eye lids open eyelids MPheno.ontology MP:0001302 In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later. eyelids open at birth MP:0001302 open eyes instead of closed at perinatal stage; failure of the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye to fuse completely together during development and an individual is born with the eye(s) uncovered leading to degrees of injury and blindness MGI:llw2 any structural anomaly of the transparent structure of the eye responsible for focusing light rays lens abnormalities lens dysplasia MPheno.ontology MP:0001303 abnormal lens morphology MP:0001303 any structural anomaly of the transparent structure of the eye responsible for focusing light rays ISBN:0-683-40008-8 PMID:9144284 complete or partial opacity of the lens Fyler:4865 cataracts cataracts/ lens opacity lens opacity MPheno.ontology MP:0001304 cataract MP:0001304 complete or partial opacity of the lens ISBN:0-683-40008-8 increased size of the transparent structure of the eye responsible for focusing light rays increased lens size MPheno.ontology MP:0001305 enlarged lens MP:0001305 increased size of the transparent structure of the eye responsible for focusing light rays ISBN:0-683-40008-8 reduced size of the transparent structure of the eye responsible for focusing light rays decreased lens size microphakia reduced lens size MPheno.ontology MP:0001306 small lens MP:0001306 reduced size of the transparent structure of the eye responsible for focusing light rays ISBN:0-683-40008-8 PMID:9753320 condition in which the transparent anterior portion of the fibrous coat of the eye is joined to the transparent biconvex cellular refractive structure lying between the iris and vitreous humor of the eye MP:0001315 cornea and lens fusion cornea/lens fusion fused cornea/lens MPheno.ontology MP:0001307 fused cornea and lens MP:0001307 condition in which the transparent anterior portion of the fibrous coat of the eye is joined to the transparent biconvex cellular refractive structure lying between the iris and vitreous humor of the eye ISBN:0-683-40008-8 failure of normal orientation of the lens during development abnormal lens polarization MPheno.ontology MP:0001308 abnormal lens polarity MP:0001308 failure of normal orientation of the lens during development ISBN:0-683-40008-8 PMID:9753320 https://orcid.org/0000-0003-3691-0324 swollen cortical fibers of the eye lens hydropic eye lens fibres MPheno.ontology MP:0001309 hydropic eye lens fibers MP:0001309 swollen cortical fibers of the eye lens J:14285 any structural anomaly of the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball conjunctiva abnormalities conjunctival dysplasia MPheno.ontology MP:0001310 abnormal conjunctiva morphology MP:0001310 any structural anomaly of the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball MESH:A09.371.060.200 https://orcid.org/0000-0003-3691-0324 true MP:0001311 any structural anomaly of the transparent anterior portion of the fibrous coat of the eye that covers the iris, pupil, and anterior chamber; together with the lens, the cornea refracts light abnormal cornea of camera-type eye morphology cornea abnormalities abnormal corneal morphology abnormal tarsal conjunctiva morphology abnormal tunica cornea morphology corneal dysplasia MPheno.ontology MP:0001312 abnormal cornea morphology MP:0001312 any structural anomaly of the transparent anterior portion of the fibrous coat of the eye that covers the iris, pupil, and anterior chamber; together with the lens, the cornea refracts light ISBN:0-683-40008-8 UBERON:0000964 greater than average occurrence and/or persistence of the local accumulation of fluid, plasma proteins, and leukocytes in the cornea increased incidence of keratitis increased incidence of tunica cornea inflammation MPheno.ontology MP:0001313 increased incidence of corneal inflammation MP:0001313 greater than average occurrence and/or persistence of the local accumulation of fluid, plasma proteins, and leukocytes in the cornea https://orcid.org/0000-0003-3691-0324 complete or partial clouding of the cornea corneal opacity tunica cornea opacity MPheno.ontology MP:0001314 cornea opacity MP:0001314 complete or partial clouding of the cornea ISBN:0-683-40008-8 MGI:jte true MP:0001315 appearance of fibrous tissue on the cornea after healing in response to injury corneal scarring tunica cornea scarring MPheno.ontology MP:0001316 cornea scarring MP:0001316 appearance of fibrous tissue on the cornea after healing in response to injury J:30249 any structural anomaly of the central circular aperture of the iris through which light rays enter the eye pupil abnormalities pupil dysplasia MPheno.ontology MP:0001317 abnormal pupil morphology MP:0001317 any structural anomaly of the central circular aperture of the iris through which light rays enter the eye ISBN:0-683-40008-8 milky or cloudy appearance of the central circular aperture of the iris through which light rays normally enter the eye MPheno.ontology MP:0001318 pupil opacity MP:0001318 milky or cloudy appearance of the central circular aperture of the iris through which light rays normally enter the eye ISBN:0-683-40008-8 shape defects in the aperture of the iris through which light rays enter the eye, usually circular MPheno.ontology MP:0001319 irregularly shaped pupil MP:0001319 shape defects in the aperture of the iris through which light rays enter the eye, usually circular ISBN:0-683-40008-8 smaller than normal size of the central circular aperture of the iris through which light rays enter the eye decreased pupil size reduced pupil size small pupils MPheno.ontology MP:0001320 small pupil MP:0001320 smaller than normal size of the central circular aperture of the iris through which light rays enter the eye ISBN:0-683-40008-8 true MP:0001321 any structural anomaly of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye MP:0006227 iris abnormalities iris dysplasia MPheno.ontology MP:0001322 abnormal iris morphology MP:0001322 any structural anomaly of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye ISBN:0-683-40008-8 OBSOLETE. milky or cloudy iris that is impervious to light MPheno.ontology MP:0001323 obsolete iris opacity true MP:0001323 OBSOLETE. milky or cloudy iris that is impervious to light ISBN:0-683-40008-8 change in the normal pigmentation of the eye to another color, or lack of color abnormal ocular pigmentation abnormal eye color abnormal eye colour MPheno.ontology MP:0001324 abnormal eye pigmentation MP:0001324 change in the normal pigmentation of the eye to another color, or lack of color https://orcid.org/0000-0003-3691-0324 any structural anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors retina abnormalities retinal abnormalities abnormal retinal morphology retina dysplasia retinal dysplasia MPheno.ontology MP:0001325 abnormal retina morphology MP:0001325 any structural anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors MGI:cwg retrogressive pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function retinal degeneration MPheno.ontology MP:0001326 retina degeneration MP:0001326 retrogressive pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function ISBN:0-683-40008-8 MGI:pretel fewer than the expected number of rods and/or cones decreased retinal photoreceptor cell number reduced number of retinal photoreceptor cells reduced retina photoreceptor cell number reduced retinal photoreceptor cell number MPheno.ontology MP:0001327 decreased retina photoreceptor cell number MP:0001327 fewer than the expected number of rods and/or cones MGI:cwg derangement of the pattern of the sheets of cells comprising the optic part of the retina disorganised retinal layers MPheno.ontology MP:0001328 disorganized retina layers MP:0001328 derangement of the pattern of the sheets of cells comprising the optic part of the retina https://orcid.org/0000-0003-4606-0597 increase in the number of normal cells in normal arrangement in the retina, typically resulting in increased size hyperplastic retina retinal hyperplasia MPheno.ontology MP:0001329 retina hyperplasia MP:0001329 increase in the number of normal cells in normal arrangement in the retina, typically resulting in increased size ISBN:0-683-40008-8 any structural anomaly of the second cranial nerve which is responsible for conveying visual information from the retina to the brain; it extends from the retina to the optic chiasma where part of its fibers become the optic tract and cross to the opposite side and pass to the geniculate bodies MP:0001058 MP:0001287 optic nerve abnormalities abnormal CN-II morphology abnormal optic II nerve morphology optic nerve dysplasia MPheno.ontology MP:0001330 abnormal optic nerve morphology MP:0001330 any structural anomaly of the second cranial nerve which is responsible for conveying visual information from the retina to the brain; it extends from the retina to the optic chiasma where part of its fibers become the optic tract and cross to the opposite side and pass to the geniculate bodies https://orcid.org/0000-0003-3691-0324 true MP:0001331 misprojection or aberrant target finding of the second cranial nerve which is responsible for conveying visual information from the retina to the brain MP:0001060 optic nerve innervation abnormalities MPheno.ontology MP:0001332 abnormal optic nerve innervation MP:0001332 misprojection or aberrant target finding of the second cranial nerve which is responsible for conveying visual information from the retina to the brain https://orcid.org/0000-0003-3691-0324 absence of the second cranial nerve which is responsible for conveying visual information from the retina to the brain absent CN-II nerve absent optic II nerve MPheno.ontology MP:0001333 absent optic nerve MP:0001333 absence of the second cranial nerve which is responsible for conveying visual information from the retina to the brain https://orcid.org/0000-0003-3691-0324 absence of the band of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region MPheno.ontology MP:0001334 absent optic tract MP:0001334 absence of the band of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region ISBN:0-683-40008-8 OBSOLETE. MPheno.ontology MP:0001335 obsolete Subject to Infection true MP:0001335 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. greater than normal frequency of inflammatory response in the eyes MP:0001851 MPheno.ontology MP:0001336 obsolete increased incidence of inflamed eyes true MP:0001336 OBSOLETE. greater than normal frequency of inflammatory response in the eyes https://orcid.org/0000-0003-3691-0324 absence of natural or normal moisture in the eye xerophthalmia MPheno.ontology MP:0001337 dry eyes MP:0001337 absence of natural or normal moisture in the eye J:53284 true MP:0001338 true MP:0001339 any structural anomaly of the skin folds covering the front of the eyeball eyelid abnormalities abnormal blephara morphology abnormal blepharon morphology abnormal eye lid morphology abnormal eyelids morphology abnormal palpebra morphology abnormal palpebrae morphology eyelid dysplasia MPheno.ontology MP:0001340 abnormal eyelid morphology MP:0001340 any structural anomaly of the skin folds covering the front of the eyeball https://orcid.org/0000-0003-3691-0324 missing skin folds covering the front of the eyeball when closed ablepharia ablepharon absent blephara absent blepharon absent eye lids absent palpebra absent palpebrae eyelid agenesis eyelid aplasia missing eyelids MPheno.ontology MP:0001341 absent eyelids MP:0001341 missing skin folds covering the front of the eyeball when closed ISBN:0-683-40008-8 true MP:0001342 strongly protruding eyelids bulgy eyelids pronounced eye lids protruding eyelids MPheno.ontology MP:0001343 pronounced eyelids MP:0001343 strongly protruding eyelids J:65032 ptosis, drooping eyelids MP:0006161 drooping eye lids drooping eyelids palpebraoptosis ptosis ptosis of the eye MPheno.ontology MP:0001344 blepharoptosis MP:0001344 ptosis, drooping eyelids ISBN:0-683-40008-8 acquired diminution of the size of the sebaceous glands embedded in the tarsal plate of each eyelid, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0000651 atrophic glandulae tarsales atrophic meibomian glands atrophic palpebral glands atrophic tarsal glands MPheno.ontology MP:0001345 Meibomian gland atrophy MP:0001345 acquired diminution of the size of the sebaceous glands embedded in the tarsal plate of each eyelid, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes PMID:8941642 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the glands that secrete tears MP:0000682 abnormal lachrymal glands morphology lacrimal gland dysplasia MPheno.ontology MP:0001346 abnormal lacrimal gland morphology MP:0001346 any structural anomaly of the glands that secrete tears ISBN:0-683-40008-8 MGI:tc missing the glands that secrete tears MP:0000684 loss of lachrymal glands loss of lacrimal glands absence of lachrymal glands absence of lacrimal glands lacrimal gland aplasia MPheno.ontology MP:0001347 absent lacrimal glands MP:0001347 missing the glands that secrete tears ISBN:0-683-40008-8 MGI:tc any functional anomaly of the glands that secrete tears MPheno.ontology MP:0001348 abnormal lacrimal gland physiology MP:0001348 any functional anomaly of the glands that secrete tears ISBN:0-683-40008-8 an unusually high amount of fluid in the eye, either oversecreted by the lacrimal glands, or due to imperfect drainage by the tear conducting passages, often resulting in overflow of fluid from the eye onto the cheek epiphora excessive lachrymation excessive lacrimation watering eye lacrimous eye MPheno.ontology MP:0001349 excessive tearing MP:0001349 an unusually high amount of fluid in the eye, either oversecreted by the lacrimal glands, or due to imperfect drainage by the tear conducting passages, often resulting in overflow of fluid from the eye onto the cheek ISBN:0-683-40008-8 true MP:0001350 true MP:0001351 true MP:0001352 when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward other mice aggression to other mice increased aggression to other mice MPheno.ontology MP:0001353 increased aggression towards mice MP:0001353 when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward other mice ISBN:0-395-70869-9 ISBN:0-683-40008-8 when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward male mice aggression towards males MPheno.ontology MP:0001354 increased aggression towards male mice MP:0001354 when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward male mice ISBN:0-395-70869-9 ISBN:0-683-40008-8 no domineering, assault posture nor hostile physical action toward male mice lack of aggression towards males MPheno.ontology MP:0001355 submission towards male mice MP:0001355 no domineering, assault posture nor hostile physical action toward male mice ISBN:0-395-70869-9 ISBN:0-683-40008-8 PMID:10716451 when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward female mice aggression towards females MPheno.ontology MP:0001356 increased aggression towards female mice MP:0001356 when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward female mice ISBN:0-395-70869-9 ISBN:0-683-40008-8 when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward humans aggression to humans increased aggression to humans MPheno.ontology MP:0001357 increased aggression towards humans MP:0001357 when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward humans ISBN:0-395-70869-9 ISBN:0-683-40008-8 a domineering, assault posture and/or hostile physical action toward inanimate objects aggression to inanimate objects MPheno.ontology MP:0001358 aggression towards inanimate objects MP:0001358 a domineering, assault posture and/or hostile physical action toward inanimate objects ISBN:0-395-70869-9 ISBN:0-683-40008-8 OBSOLETE. MPheno.ontology MP:0001359 obsolete piling true MP:0001359 OBSOLETE. https://orcid.org/0000-0003-3691-0324 altered behavior of animals to approach and examine conspecifics MPheno.ontology MP:0001360 abnormal social investigation MP:0001360 altered behavior of animals to approach and examine conspecifics https://orcid.org/0000-0003-3691-0324 reclusive behavior; the tendency to refrain from participating in social situations and to seek isolation MPheno.ontology MP:0001361 In mice, one sign of this phenotype is that animals will remain physically distant, and do not sleep in piles with cagemates. social withdrawal MP:0001361 reclusive behavior; the tendency to refrain from participating in social situations and to seek isolation https://orcid.org/0000-0003-3691-0324 altered emotional response related to anticipation of a non-specific threat abnormal anxiety response altered anxiety response MPheno.ontology MP:0001362 abnormal anxiety-related response MP:0001362 altered emotional response related to anticipation of a non-specific threat MGI:CFG https://orcid.org/0000-0003-3691-0324 when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests elevated anxiety increased anxiety MPheno.ontology MP:0001363 increased anxiety-related response MP:0001363 when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests MGI:cwg when compared to controls, subjects exhibit fewer responses thought to be indicative of anxiety in behavioral tests MP:0001367 MP:0001368 MP:0002197 decreased anxiety reduced anxiety reduced anxiety in dark-light crossing task reduced anxiety in elevated plus maze test reduced anxiety in elevated zero maze test MPheno.ontology MP:0001364 decreased anxiety-related response MP:0001364 when compared to controls, subjects exhibit fewer responses thought to be indicative of anxiety in behavioral tests MGI:cwg OBSOLETE. resident animals exhibit escape behavior and do not initiate social investigation of an intruder mouse MPheno.ontology MP:0001365 obsolete increased escape behavior induced by intruder mouse true MP:0001365 OBSOLETE. resident animals exhibit escape behavior and do not initiate social investigation of an intruder mouse https://orcid.org/0000-0003-3691-0324 OBSOLETE. reduced freezing behavior resulting from failed escape attempts induced by forced swim in a small cylinder MPheno.ontology MP:0001366 obsolete impaired stress response in porsolt forced swin test true MP:0001366 OBSOLETE. reduced freezing behavior resulting from failed escape attempts induced by forced swim in a small cylinder ISBN:0-471-31639-3 PMID:10471508 https://orcid.org/0000-0003-3691-0324 true MP:0001367 true MP:0001368 true MP:0001369 true MP:0001370 true MP:0001371 true MP:0001372 OBSOLETE. MPheno.ontology MP:0001373 obsolete Increased Fecundity true MP:0001373 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001374 any change from the common preference of an initiating organism to initiate sexual contact with a receptive partner; in rodents, this usually refers to males that attempts to initiate sexual behavior with males and females indiscriminately MPheno.ontology MP:0001375 abnormal mating preference MP:0001375 any change from the common preference of an initiating organism to initiate sexual contact with a receptive partner; in rodents, this usually refers to males that attempts to initiate sexual behavior with males and females indiscriminately J:76339 deviation from the normal cycle or inability of females to respond favorably to males that initiate sexual behavior abnormal lordosis behavior MPheno.ontology MP:0001376 abnormal mating receptivity MP:0001376 deviation from the normal cycle or inability of females to respond favorably to males that initiate sexual behavior J:51468 increased, reduced or absent attempt of sexual behavioral contact between an initiating organism and a receptive partner abnormal copulation frequency abnormal coitus frequency MPheno.ontology MP:0001377 abnormal mating frequency MP:0001377 increased, reduced or absent attempt of sexual behavioral contact between an initiating organism and a receptive partner MESH:F01.145.113.252.748.200 anomalies in the ability to propulse semen from the genital ducts and the urethra to the exterior MPheno.ontology MP:0001378 abnormal ejaculation MP:0001378 anomalies in the ability to propulse semen from the genital ducts and the urethra to the exterior ISBN:0-683-40008-8 altered ability to achieve a rigid state of the penis obtained in the condition in which the erectile tissue is filled with blood MPheno.ontology MP:0001379 abnormal penile erection MP:0001379 altered ability to achieve a rigid state of the penis obtained in the condition in which the erectile tissue is filled with blood ISBN:0-683-40008-8 males do not as frequently initiate sexual behavior (as scored by the presence of copulation plugs in rodents, not due to infertility) reduced male mating frequency MPheno.ontology male reduced copulation male reduced copulation without impotence male sexual dysfunction, without impotence MP:0001380 decreased male mating frequency MP:0001380 males do not as frequently initiate sexual behavior (as scored by the presence of copulation plugs in rodents, not due to infertility) J:57125 true MP:0001381 females show anomlies in the feeding of offspring from mammary glands, or do not nurse offspring, or nurse offspring infrequently MPheno.ontology MP:0001382 abnormal nursing MP:0001382 females show anomlies in the feeding of offspring from mammary glands, or do not nurse offspring, or nurse offspring infrequently https://orcid.org/0000-0003-3691-0324 true MP:0001383 any anomaly in the ability of a nesting female to retrieve stray pups to the nest or a delay in retrieving stray pups MPheno.ontology MP:0001384 abnormal pup retrieval MP:0001384 any anomaly in the ability of a nesting female to retrieve stray pups to the nest or a delay in retrieving stray pups https://orcid.org/0000-0003-3691-0324 the killing and eating of newborn mice by the mother; however, this can be a normal response if the mother does not recognize the pups as her own MPheno.ontology MP:0001385 pup cannibalization MP:0001385 the killing and eating of newborn mice by the mother; however, this can be a normal response if the mother does not recognize the pups as her own https://orcid.org/0000-0003-3691-0324 anomaly in the behaviors related to a female tending to young MP:0001381 abnormal care for newborns maternal nurturing defect MPheno.ontology MP:0001386 abnormal maternal nurturing MP:0001386 anomaly in the behaviors related to a female tending to young https://orcid.org/0000-0003-4606-0597 OBSOLETE. MP:0002066 movement/ locomotion abnormalities MPheno.ontology MP:0001387 obsolete abnormal movement/ locomotion true MP:0001387 OBSOLETE. https://orcid.org/0000-0003-3691-0324 altered ability or inability to change body posture or shift a body part abnormal body part movement stationary movement abnormalities MPheno.ontology MP:0001388 abnormal stationary movement MP:0001388 altered ability or inability to change body posture or shift a body part https://orcid.org/0000-0003-3691-0324 deviation from the normal motility of the visual organs MPheno.ontology MP:0001389 abnormal eye movement MP:0001389 deviation from the normal motility of the visual organs MGI:cwg true MP:0001390 a change from the normal manner of moving the tail MP:0000590 MPheno.ontology MP:0001391 abnormal tail movements MP:0001391 a change from the normal manner of moving the tail MGI:cwg altered ability or inability to move from place to place in response to stimuli abnormal locomotion abnormal locomotor activity abnormal locomotor behaviour abnormal locomotory behavior abnormal locomotory behaviour MPheno.ontology MP:0001392 abnormal locomotor behavior MP:0001392 altered ability or inability to move from place to place in response to stimuli https://orcid.org/0000-0003-3691-0324 inability to coordinate voluntary muscular movements MPheno.ontology unsteady gait MP:0001393 ataxia MP:0001393 inability to coordinate voluntary muscular movements ISBN:0-683-40008-8 repeated movement in a circle; often associated with inner ear defects MPheno.ontology MP:0001394 circling MP:0001394 repeated movement in a circle; often associated with inner ear defects PMID:10709991 https://orcid.org/0000-0003-3691-0324 circling behavior exhibited in both clockwise and counterclockwise directions MPheno.ontology MP:0001395 bidirectional circling MP:0001395 circling behavior exhibited in both clockwise and counterclockwise directions MGI:cml circling behavior in one direction only, either clockwise or counterclockwise MPheno.ontology MP:0001396 unidirectional circling MP:0001396 circling behavior in one direction only, either clockwise or counterclockwise https://orcid.org/0000-0002-0371-1954 true MP:0001397 OBSOLETE. MPheno.ontology MP:0001398 obsolete backflips true MP:0001398 OBSOLETE. https://orcid.org/0000-0003-3691-0324 general restlessness or excessive movement; more frequent movement from one place to another or having an increased state of activity MP:0001397 MP:0001403 hyperactive increased physical activity MPheno.ontology restless MP:0001399 hyperactivity MP:0001399 general restlessness or excessive movement; more frequent movement from one place to another or having an increased state of activity ISBN:0-683-40008-8 increased reaction to touch MPheno.ontology MP:0001400 hyperresponsive MP:0001400 increased reaction to touch J:39801 marked by fitful, jerky movements MPheno.ontology MP:0001401 jumpy MP:0001401 marked by fitful, jerky movements J:22295 general reduction in locomotor activity; reduced movement from one place to another MP:0001419 decreased spontaneous locomotor activity hypolocomotion low spontaneous locomotor activity reduced locomotor activity reduced activity in horizontal open field test MPheno.ontology MP:0001402 decreased locomotor activity MP:0001402 general reduction in locomotor activity; reduced movement from one place to another ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0001403 failure of neonates or embryos to initiate any voluntary or spontaneous change in position or posture, with or without external stimulus failure to move MPheno.ontology MP:0001404 no spontaneous movement MP:0001404 failure of neonates or embryos to initiate any voluntary or spontaneous change in position or posture, with or without external stimulus ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 reduced ability to execute integrated movements of muscle MP:0001517 MP:0001518 MP:0001519 MP:0001520 MP:0001521 impaired motor coordination impaired motor coordination in balance beam test impaired motor coordination in hanging wire test impaired motor coordination in platform test impaired motor coordination in rotarod test impaired motor coordination in thin rod test MPheno.ontology MP:0001405 impaired coordination MP:0001405 reduced ability to execute integrated movements of muscle ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground abnormal ambulation peculiar gait MPheno.ontology MP:0001406 abnormal gait MP:0001406 abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground https://orcid.org/0000-0003-4606-0597 reduced average distance between steps MPheno.ontology MP:0001407 short stride length MP:0001407 reduced average distance between steps J:34193 repetitive, invariant, perseverative motor patterns that do not appear to be purposeful stereotypic behaviour MPheno.ontology MP:0001408 stereotypic behavior MP:0001408 repetitive, invariant, perseverative motor patterns that do not appear to be purposeful ISBN:0-471-31639-3 more frequent incidence of repetitive, invariant, perseverative motor patterns that do not appear to be purposeful increased stereotypic behaviour MPheno.ontology MP:0001409 increased stereotypic behavior MP:0001409 more frequent incidence of repetitive, invariant, perseverative motor patterns that do not appear to be purposeful ISBN:0-471-31639-3 https://orcid.org/0000-0003-3691-0324 repetitive up and down movement of the head head nodding MPheno.ontology MP:0001410 head bobbing MP:0001410 repetitive up and down movement of the head J:17123 repetitive rolling of the body MPheno.ontology MP:0001411 spinning MP:0001411 repetitive rolling of the body J:17123 compulsive scraping of the skin, usually with the nails MPheno.ontology MP:0001412 excessive scratching MP:0001412 compulsive scraping of the skin, usually with the nails J:61340 altered behavioral reaction associated with placing an animal in a new location abnormal transfer arousal transfer arousal MPheno.ontology MP:0001413 abnormal response to new environment MP:0001413 altered behavioral reaction associated with placing an animal in a new location MGI:CFG OBSOLETE. MPheno.ontology MP:0001414 obsolete Increased Response to New Environment true MP:0001414 OBSOLETE. https://orcid.org/0000-0003-3691-0324 greater amount of time spent investigating new location MPheno.ontology MP:0001415 increased exploration in new environment MP:0001415 greater amount of time spent investigating new location J:28825 OBSOLETE. MPheno.ontology MP:0001416 obsolete Decreased Response to New Environment true MP:0001416 OBSOLETE. https://orcid.org/0000-0003-3691-0324 less amount of time spent investigating a new location neophobia reduced exploration in new environment MPheno.ontology MP:0001417 decreased exploration in new environment MP:0001417 less amount of time spent investigating a new location ISBN:0471316393 OBSOLETE. MPheno.ontology MP:0001418 obsolete open field locomotion abnormalities true MP:0001418 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001419 true MP:0001420 OBSOLETE. MPheno.ontology MP:0001421 obsolete touch escape true MP:0001421 OBSOLETE. https://orcid.org/0000-0003-3691-0324 an altered pattern of fluid consumption or altered preference for particular fluids MP:0003911 MP:0003912 abnormal drinking behaviour MPheno.ontology MP:0001422 abnormal drinking behavior MP:0001422 an altered pattern of fluid consumption or altered preference for particular fluids https://orcid.org/0000-0003-3691-0324 the desire to drink more or less fluids than average, or to drink unusual fluids MPheno.ontology MP:0001423 abnormal liquid preference MP:0001423 the desire to drink more or less fluids than average, or to drink unusual fluids https://orcid.org/0000-0003-3691-0324 OBSOLETE. drinking water in anomalous quantities MP:0001422 MPheno.ontology MP:0001424 obsolete abnormal water consumption true MP:0001424 OBSOLETE. drinking water in anomalous quantities MGI:cwg aberrant behavioral-related or physiological-related intake of alcohol into the body abnormal ethanol consumption MPheno.ontology MP:0001425 abnormal alcohol consumption MP:0001425 aberrant behavioral-related or physiological-related intake of alcohol into the body https://orcid.org/0000-0003-3691-0324 abnormally large intake of fluids by mouth, usually due to excessive thirst that is relatively prolonged excessive drinking increased drinking polydypsia MPheno.ontology MP:0001426 polydipsia MP:0001426 abnormally large intake of fluids by mouth, usually due to excessive thirst that is relatively prolonged ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0001427 failure to drink MP:0001427 MPheno.ontology MP:0001428 adipsia MP:0001428 failure to drink ISBN:0-683-40008-8 excessive water loss from the body or from an organ or bodily part MPheno.ontology MP:0001429 dehydration MP:0001429 excessive water loss from the body or from an organ or bodily part ISBN:0-683-40008-8 PMID:9744866 true MP:0001430 altered ability to consume foods or atypical consumption pattern MP:0001430 MP:0003909 MP:0003910 abnormal feeding abnormal feeding behavior abnormal feeding behaviour abnormal eating behaviour MPheno.ontology MP:0001431 abnormal eating behavior MP:0001431 altered ability to consume foods or atypical consumption pattern ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 the desire to eat more or less food than average, or to eat unusual foods MPheno.ontology MP:0001432 abnormal food preference MP:0001432 the desire to eat more or less food than average, or to eat unusual foods https://orcid.org/0000-0003-3691-0324 eating to excess hyperphagia over eating MPheno.ontology MP:0001433 polyphagia MP:0001433 eating to excess https://orcid.org/0000-0003-3691-0324 true MP:0001434 inability to orient and open/close mouth in sucking pattern in response to external light touching or stroking of the chin absent rooting reflex absent rooting response no suckling reflex MPheno.ontology MP:0001435 absent suckling reflex MP:0001435 inability to orient and open/close mouth in sucking pattern in response to external light touching or stroking of the chin J:56847 reduced ability or inability to exert suction by the mouth, or atypical suckling pattern abnormal sucking behavior abnormal sucking behaviour abnormal suckling behaviour MPheno.ontology MP:0001436 abnormal suckling behavior MP:0001436 reduced ability or inability to exert suction by the mouth, or atypical suckling pattern J:16461 inability to pull food through the esophagus to the stomach in response to feeding MPheno.ontology MP:0001437 no swallowing reflex MP:0001437 inability to pull food through the esophagus to the stomach in response to feeding J:56847 failure to eat MP:0001434 MPheno.ontology MP:0001438 aphagia MP:0001438 failure to eat ISBN:0-683-40008-8 true MP:0001439 defects in the standard of behavior of cleaning and/or keeping outward appearance tidy (self, mate or offspring) MP:0001439 abnormal grooming abnormal grooming behaviour MPheno.ontology MP:0001440 abnormal grooming behavior MP:0001440 defects in the standard of behavior of cleaning and/or keeping outward appearance tidy (self, mate or offspring) https://orcid.org/0000-0003-3691-0324 increased amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring) increased grooming behaviour MPheno.ontology MP:0001441 increased grooming behavior MP:0001441 increased amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring) https://orcid.org/0000-0003-3691-0324 reduced amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring) decreased grooming behaviour reduced grooming behavior reduced grooming behaviour MPheno.ontology MP:0001442 decreased grooming behavior MP:0001442 reduced amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring) https://orcid.org/0000-0003-3691-0324 below average standard of cleaning and/or keeping outward appearance tidy (self, mate or offspring) MPheno.ontology MP:0001443 poor grooming MP:0001443 below average standard of cleaning and/or keeping outward appearance tidy (self, mate or offspring) J:30404 https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001444 obsolete compulsive biting true MP:0001444 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001445 obsolete compulsive licking true MP:0001445 OBSOLETE. https://orcid.org/0000-0003-3691-0324 anomaly in the behavior of plucking or biting off of the whiskers/vibrissae from other individuals of a cohort abnormal whisker trimming behaviour MPheno.ontology MP:0001446 This is a rodent-specific behavior. Whisker trimming and barbering are either normal or abnormal depending on the mouse strain. Barbering is particularly common in C57BL/6 and A2G but nearly unseen in other strains. This term should always be used in relation to the control and strain should be specified. abnormal whisker trimming behavior MP:0001446 anomaly in the behavior of plucking or biting off of the whiskers/vibrissae from other individuals of a cohort MGI:il PMID:16236465 https://orcid.org/0000-0003-3691-0324 deviation from the usual behavior of nesting animals to build sleeping nests out of any available materials, or of nesting animals to build nests to protect offspring abnormal nest building behaviour MPheno.ontology MP:0001447 abnormal nest building behavior MP:0001447 deviation from the usual behavior of nesting animals to build sleeping nests out of any available materials, or of nesting animals to build nests to protect offspring ISBN:0-471-31639-3 OBSOLETE:any anomaly in the the usual tendency of mice to pile together when sleeping MP:0021117 abnormal huddling behaviour MPheno.ontology MP:0001448 obsolete abnormal mouse huddling behavior true MP:0001448 OBSOLETE:any anomaly in the the usual tendency of mice to pile together when sleeping ISBN:0-471-31639-3 true MP:0001449 OBSOLETE. MPheno.ontology MP:0001450 obsolete Altered Intelligence true MP:0001450 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001451 obsolete Decreased Intelligence true MP:0001451 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001452 obsolete Increased Intelligence true MP:0001452 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001453 anomaly in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash) MP:0001453 abnormal context-trace conditioning abnormal cued conditioning behaviour cued conditioning anomalies cued fear conditioning abnormalities fear conditioning abnormalities MPheno.ontology MP:0001454 abnormal cued conditioning behavior MP:0001454 anomaly in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash) MGI:CFG OBSOLETE. MPheno.ontology MP:0001455 obsolete normal cued fear conditioning true MP:0001455 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. altered ability to recall an association between an auditory cue and a foot shock over time; measured by "freezing" of animal in response to auditory cue MP:0001454 MP:0002063 MPheno.ontology MP:0001456 obsolete impaired long term memory in cued fear conditioning test true MP:0001456 OBSOLETE. altered ability to recall an association between an auditory cue and a foot shock over time; measured by "freezing" of animal in response to auditory cue ISBN:0-471-31639-3 PMID:9949198 https://orcid.org/0000-0003-3691-0324 OBSOLETE. altered ability to recall an association between a location and a foot shock over time; measured by "freezing" of animal in response to auditory cue MP:0001469 MP:0002063 MPheno.ontology MP:0001457 obsolete impaired long term memory in contextual fear test true MP:0001457 OBSOLETE. altered ability to recall an association between a location and a foot shock over time; measured by "freezing" of animal in response to auditory cue ISBN:0-471-31639-3 https://orcid.org/0000-0003-3691-0324 anomaly in the ability to recognize objects that the animal has previously encountered; recognition is measured by relative amount of time exploring objects, which should decrease upon subsequent or multiple presentations of the same object when presented with novel objects at the same time object recognition memory abnormalities MPheno.ontology MP:0001458 abnormal object recognition memory MP:0001458 anomaly in the ability to recognize objects that the animal has previously encountered; recognition is measured by relative amount of time exploring objects, which should decrease upon subsequent or multiple presentations of the same object when presented with novel objects at the same time MGI:CFG OBSOLETE. reduced time spent exploring a novel object that replaced a training object after a specified retention time MP:0001458 MPheno.ontology MP:0001459 obsolete impaired memory in novel object recognition test true MP:0001459 OBSOLETE. reduced time spent exploring a novel object that replaced a training object after a specified retention time https://orcid.org/0000-0003-3691-0324 anomaly in the ability to exhibit a differential response to olfactory stimuli that is achieved by the reinforcement of the desired response for each particular olfactory stimulus olfactory discrimination memory abnormalities MPheno.ontology MP:0001460 abnormal olfactory discrimination memory MP:0001460 anomaly in the ability to exhibit a differential response to olfactory stimuli that is achieved by the reinforcement of the desired response for each particular olfactory stimulus MGI:CFG OBSOLETE. reduced food preference based on food recently smelled on the breath of other individuals MP:0001460 MPheno.ontology MP:0001461 obsolete impaired memory in olfactory discrimination test true MP:0001461 OBSOLETE. reduced food preference based on food recently smelled on the breath of other individuals ISBN:0-471-31639-3 anomaly in the ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus abnormal avoidance learning behaviour avoidance learning anomalies MPheno.ontology MP:0001462 abnormal avoidance learning behavior MP:0001462 anomaly in the ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus MGI:CFG anomaly in the ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues MP:0001466 MP:0001467 spatial learning abnormalities MPheno.ontology MP:0001463 abnormal spatial learning MP:0001463 anomaly in the ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues MGI:CFG https://orcid.org/0000-0003-3691-0324 OBSOLETE. reduced ability to remember a sequence of previously visited feeding sites in an eight arm maze MP:0008414 MP:0008428 MPheno.ontology MP:0001464 obsolete impaired learning in eight arm radial maze test true MP:0001464 OBSOLETE. reduced ability to remember a sequence of previously visited feeding sites in an eight arm maze ISBN:0-471-31639-3 OBSOLETE. MPheno.ontology MP:0001465 obsolete morris water maze true MP:0001465 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001466 true MP:0001467 anomaly in the ability to recall temporal events and stimuli temporal memory abnormalities MPheno.ontology MP:0001468 abnormal temporal memory MP:0001468 anomaly in the ability to recall temporal events and stimuli MGI:CFG anomaly in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case) abnormal contextual conditioning behaviour abnormal contextual fear conditioning contextual conditioning anomalies contextual fear conditioning abnormalities MPheno.ontology MP:0001469 abnormal contextual conditioning behavior MP:0001469 anomaly in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case) MGI:CFG OBSOLETE. MP:0001469 MPheno.ontology MP:0001470 obsolete impaired long term memory in step-down avoidance test true MP:0001470 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001471 obsolete large place fields true MP:0001471 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001472 less than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells deficient LTP deficient long term potentiation reduced long term potentiation MPheno.ontology MP:0001473 reduced long-term potentiation MP:0001473 less than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells ISBN:0838580343 true MP:0001474 less than the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of CA1 neurons deficient LTD deficient long term depression reduced long term depression MPheno.ontology MP:0001475 reduced long-term depression MP:0001475 less than the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of CA1 neurons ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 true MP:0001476 true MP:0001477 true MP:0001478 true MP:0001479 true MP:0001480 true MP:0001481 OBSOLETE. MPheno.ontology MP:0001482 obsolete Increased Pupil Restriction true MP:0001482 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001483 obsolete Decreased Pupil Restriction true MP:0001483 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001484 anomaly in the response to an auditory stimulus by a characteristic ear twitch MP:0001962 abnormal Preyer's reflex abnormal ear twitch response MPheno.ontology MP:0001485 abnormal pinna reflex MP:0001485 anomaly in the response to an auditory stimulus by a characteristic ear twitch PMID:11583390 aberrant threshold or reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch MPheno.ontology MP:0001486 abnormal startle reflex MP:0001486 aberrant threshold or reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch ISBN:0-471-31639-3 https://orcid.org/0000-0003-3691-0324 true MP:0001487 reduced threshold or more severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch MP:0001487 increased startle response in acoustic startle test MPheno.ontology MP:0001488 increased startle reflex MP:0001488 reduced threshold or more severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch ISBN:0-471-31639-3 https://orcid.org/0000-0003-3691-0324 greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch reduced startle reflex MPheno.ontology MP:0001489 decreased startle reflex MP:0001489 greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch ISBN:0-471-31639-3 https://orcid.org/0000-0003-3691-0324 animals do not change position in response to stimulation of the whiskers MP:0001276 MP:0001969 abnormal vibrissa reflex failure to orient in response to vibrissae stimulation MPheno.ontology MP:0001490 abnormal vibrissae reflex MP:0001490 animals do not change position in response to stimulation of the whiskers J:17194 absence of reflex action normally induced by touch or pain MP:0001971 MP:0001976 absent pain responsiveness in pin prick test absent pain responsiveness in tail pinch test absent tactile reflex MPheno.ontology tactile analgesia MP:0001491 unresponsive to tactile stimuli MP:0001491 absence of reflex action normally induced by touch or pain https://orcid.org/0000-0003-3691-0324 anomaly in the involuntary bristling of hairs that occurs when an organism is cold or experiences strong emotions such as fear or awe abnormal piloerection response MPheno.ontology cutis anserina goosebumps horripilation MP:0001492 The pilomotor reflex occurs in many mammals; for example, porcupines raise their quills when threatened. Piloerection as a response to cold or fear is vestigial in humans; as humans retain only very little body hair, the reflex (in humans) now provides no known benefit. abnormal pilomotor reflex MP:0001492 anomaly in the involuntary bristling of hairs that occurs when an organism is cold or experiences strong emotions such as fear or awe MESH:F02.830.702.607 https://orcid.org/0000-0003-3691-0324 true MP:0001493 true MP:0001494 true MP:0001495 a reflex seizure triggered by loud noises MP:0000949 MPheno.ontology MP:0001496 audiogenic seizures MP:0001496 a reflex seizure triggered by loud noises ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0001497 true MP:0001498 any anomaly in the long-lasting epileptogenic changes normally induced by daily sub threshold electrical brain stimulation, often used as an induced model for epilepsy abnormal kindling behavior abnormal kindling behaviour MPheno.ontology MP:0001499 abnormal kindling response MP:0001499 any anomaly in the long-lasting epileptogenic changes normally induced by daily sub threshold electrical brain stimulation, often used as an induced model for epilepsy ISBN:0-683-40008-8 J:45446 fewer epileptogenic changes normally induced by daily sub threshold electrical brain stimulation decreased kindling behavior decreased kindling behaviour reduced kindling behavior reduced kindling behaviour reduced kindling response MPheno.ontology MP:0001500 decreased kindling response MP:0001500 fewer epileptogenic changes normally induced by daily sub threshold electrical brain stimulation J:45446 deviation from the normal wake/sleep cycle MP:0002004 MPheno.ontology MP:0001501 abnormal sleep pattern MP:0001501 deviation from the normal wake/sleep cycle https://orcid.org/0000-0003-3691-0324 deviation from the normal 24 hour biological activity cycle MPheno.ontology MP:0001502 'has part' some (quality and ('inheres in' some 'circadian rhythm') and ('has modifier' some abnormal)) term was placed under behavior but definition was for any circadian rhythm not just behavior alt ID MP:0002005 obsolete abnormal circadian rhythm true MP:0001502 deviation from the normal 24 hour biological activity cycle https://orcid.org/0000-0003-3691-0324 OBSOLETE. MP:0001504 MP:0004262 MPheno.ontology MP:0001503 obsolete abnormal strength/ posture true MP:0001503 OBSOLETE. https://orcid.org/0000-0003-3691-0324 atypical intentionally or habitually assumed position of the limbs or carriage of the body MPheno.ontology MP:0001504 abnormal posture MP:0001504 atypical intentionally or habitually assumed position of the limbs or carriage of the body ISBN:0-683-40008-8 stooped low with the limbs pulled in close to the body and arched back MPheno.ontology MP:0001505 hunched posture MP:0001505 stooped low with the limbs pulled in close to the body and arched back J:30404 J:67231 lack of rigidity of the carriage of the body MPheno.ontology MP:0001506 limp posture MP:0001506 lack of rigidity of the carriage of the body ISBN:0-683-40008-8 J:60159 https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001507 obsolete positional passivity true MP:0001507 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001508 obsolete abnormal body tone true MP:0001508 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001509 obsolete abnormal body position true MP:0001509 OBSOLETE. https://orcid.org/0000-0003-3691-0324 anomaly in the visual aspect of the coat or hair abnormal appearance of the fur MPheno.ontology MP:0001510 abnormal coat appearance MP:0001510 anomaly in the visual aspect of the coat or hair ISBN:0-683-40008-8 coat that looks generally unkempt disheveled appearance of the fur ragged coat MPheno.ontology MP:0001511 disheveled coat MP:0001511 coat that looks generally unkempt MGI:cwg posture of the trunk in a curled position MPheno.ontology MP:0001512 trunk curl MP:0001512 posture of the trunk in a curled position MGI:cml mice clasp front and/or hind feet almost immediately upon being lifted by tail abnormal clutching reflex grasping reflex hind limb extension reflex hindlimb extension reflex limb clamping limb clasping MPheno.ontology MP:0001513 limb grasping MP:0001513 mice clasp front and/or hind feet almost immediately upon being lifted by tail MGI:cml OBSOLETE. MPheno.ontology MP:0001514 obsolete abnormal footprint pathway true MP:0001514 OBSOLETE. https://orcid.org/0000-0003-3691-0324 altered ability to grasp and hold objects, often measured as time spent hanging from an object or wire MPheno.ontology MP:0001515 abnormal grip strength MP:0001515 altered ability to grasp and hold objects, often measured as time spent hanging from an object or wire ISBN:0471316393 altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium impaired proprioception MPheno.ontology MP:0001516 abnormal motor coordination/balance MP:0001516 altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium https://orcid.org/0000-0003-3691-0324 true MP:0001517 true MP:0001518 true MP:0001519 true MP:0001520 true MP:0001521 reduced ability or inability to swim impaired ability to orient in water MPheno.ontology MP:0001522 impaired swimming MP:0001522 reduced ability or inability to swim J:39081 J:45446 reduced ability or greater amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position MPheno.ontology MP:0001523 impaired righting response MP:0001523 reduced ability or greater amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position ISBN:0-683-40008-8 reduced ability to organize limb movements to execute complex maneuvers, such as walking MPheno.ontology MP:0001524 impaired limb coordination MP:0001524 reduced ability to organize limb movements to execute complex maneuvers, such as walking J:17123 J:64962 https://orcid.org/0000-0003-3691-0324 reduced ability of an animal to maintain equilibrium MPheno.ontology MP:0001525 impaired balance MP:0001525 reduced ability of an animal to maintain equilibrium ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 altered ability to stretch and lift the forelimbs and head to grab a close edge abnormal reaching response abnormal visual placing MPheno.ontology MP:0001526 abnormal placing response MP:0001526 altered ability to stretch and lift the forelimbs and head to grab a close edge MGI:cml PMID:11136708 characterized by slow, writhing involuntary movements of flexion, extension, pronation and supination of the paws and toes athetosis MPheno.ontology MP:0001527 athetotic walking movements MP:0001527 characterized by slow, writhing involuntary movements of flexion, extension, pronation and supination of the paws and toes ISBN:0-683-40008-8 PMID:8208292 true MP:0001528 an inability, decreased ability or altered ability to produce sound from the vocal organs; or a general increase or decrease in the production of vocal sound MP:0001528 MPheno.ontology MP:0001529 abnormal vocalization MP:0001529 an inability, decreased ability or altered ability to produce sound from the vocal organs; or a general increase or decrease in the production of vocal sound MGI:cml OBSOLETE. MP:0001529 MPheno.ontology MP:0001530 obsolete Increased Vocalization true MP:0001530 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MP:0001529 MPheno.ontology MP:0001531 obsolete Decreased Vocalization true MP:0001531 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001532 obsolete Physiology true MP:0001532 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any functional anomaly of the bony framework of the body abnormal bone/ skeleton physiology bone/ skeletal physiology abnormalities MPheno.ontology MP:0001533 abnormal skeleton physiology MP:0001533 any functional anomaly of the bony framework of the body ISBN:0-683-40008-8 true MP:0001534 true MP:0001535 true MP:0001536 true MP:0001537 true MP:0001538 reduced number of the bony segments of the tail or tail remnant decreased number of caudal vertebrae decreased number of tail vertebrae reduced caudal vertebrae number MPheno.ontology MP:0001539 There are usually 27-30 caudal vertebrae present in rodents and only 3-5 fused caudal vertebrae in human. decreased caudal vertebrae number MP:0001539 reduced number of the bony segments of the tail or tail remnant ISBN:0-683-40008-8 true MP:0001540 any functional anomaly of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue MPheno.ontology abnormal chondroclast physiology MP:0001541 abnormal osteoclast physiology MP:0001541 any functional anomaly of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue CL:0000092 change in the ability of bone to endure the application of force without yielding or breaking MPheno.ontology MP:0001542 abnormal bone strength MP:0001542 change in the ability of bone to endure the application of force without yielding or breaking ISBN:0-683-40008-8 true MP:0001543 any functional anomaly of the heart or vascular tissue MP:0000302 MP:0001623 MP:0001626 MP:0002130 MGI:2173590 abnormal cardiovascular function abnormal circulatory system physiology circulatory system physiology abnormalities heart/cardiovascular system: other functional anomalies other abnormal cardiovascular system physiology abnormal heart function MPheno.ontology MP:0001544 abnormal cardiovascular system physiology MP:0001544 any functional anomaly of the heart or vascular tissue https://orcid.org/0000-0003-3691-0324 any functional anomaly of the fluid and/or its suspended elements that circulate(s) through the heart, arteries, capillaries, and veins abnormal haematopoietic system physiology abnormal haemopoietic system physiology abnormal hemopoietic system physiology blood defects blood physiology abnormalities MPheno.ontology MP:0001545 abnormal hematopoietic system physiology MP:0001545 any functional anomaly of the fluid and/or its suspended elements that circulate(s) through the heart, arteries, capillaries, and veins ISBN:0-683-40008-8 true MP:0001546 any anomaly in the concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body abnormal lipid storage MPheno.ontology MP:0001547 abnormal lipid level MP:0001547 any anomaly in the concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body ISBN:0-683-40008-8 abnormally high concentration of lipids in the circulating blood hyperlipaemia hyperlipemia hyperlipidaemia lipaemia lipemia MPheno.ontology MP:0001548 hyperlipidemia MP:0001548 abnormally high concentration of lipids in the circulating blood ISBN:0-683-40008-8 PMID:8941642 true MP:0001549 true MP:0001550 true MP:0001551 greater concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver MP:0005142 hypertriglyceridaemia hypertriglyceridemia elevated plasma triacylglycerol level elevated plasma triglyceride level elevated serum triacylglycerol level elevated serum triglyceride level MPheno.ontology MP:0001552 increased circulating triglyceride level MP:0001552 greater concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver https://orcid.org/0000-0003-3691-0324 any anomaly in the blood concentrations of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues abnormal FFA level abnormal NEFA level abnormal UFA level abnormal unesterified fatty acids level abnormal circulating free fatty acid level abnormal circulating non-esterified fatty acids level MPheno.ontology MP:0001553 abnormal circulating free fatty acids level MP:0001553 any anomaly in the blood concentrations of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues ISBN:0-683-40008-8 higher than normal levels of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues increased FFA level increased UFA level increased circulating free fatty acid level increased circulating non-esterified fatty acids level increased unesterified fatty acids level elevated serum free fatty acid levels MPheno.ontology increased NEFA level increased free fatty acids level MP:0001554 increased circulating free fatty acids level MP:0001554 higher than normal levels of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues ISBN:0-683-40008-8 true MP:0001555 higher amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion MP:0000185 MP:0002617 elevated HDL cholesterol level high HDL cholesterol level increased HDL cholesterol level elevated circulating HDL cholesterol level high HDL serum level MPheno.ontology MP:0001556 increased circulating HDL cholesterol level MP:0001556 higher amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion https://orcid.org/0000-0003-3691-0324 true MP:0001557 true MP:0001558 abnormally high concentration of glucose in the blood; generally refers to a pathological state MP:0000190 MP:0002612 Increased Blood Glucose Level high blood glucose levels hyperglycaemia MPheno.ontology MP:0001559 hyperglycemia MP:0001559 abnormally high concentration of glucose in the blood; generally refers to a pathological state ISBN:0-683-40008-8 any anomaly in the blood concentration of the polypeptide hormone, secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids MP:0000191 abnormal blood insulin level MPheno.ontology MP:0001560 abnormal circulating insulin level MP:0001560 any anomaly in the blood concentration of the polypeptide hormone, secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids ISBN:0-683-40008-8 true MP:0001561 any anomaly in the concentration of calcium in the blood MP:0000193 MP:0001767 abnormal blood calcium level MPheno.ontology MP:0001562 abnormal circulating calcium level MP:0001562 any anomaly in the concentration of calcium in the blood MGI:cwg true MP:0001563 true MP:0001564 any anomaly in the blood concentrations of the salt or ester of phosphoric acid MP:0000196 MP:0001772 MPheno.ontology MP:0001565 abnormal circulating phosphate level MP:0001565 any anomaly in the blood concentrations of the salt or ester of phosphoric acid ISBN:0-683-40008-8 abnormally high concentrations of phosphates in the circulating blood MP:0000197 MP:0001773 hyperphosphataemia hyperphosphatemia MPheno.ontology MP:0001566 increased circulating phosphate level MP:0001566 abnormally high concentrations of phosphates in the circulating blood ISBN:0-683-40008-8 true MP:0001567 true MP:0001568 any anomaly in the concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells MP:0000200 MPheno.ontology MP:0001569 abnormal circulating bilirubin level MP:0001569 any anomaly in the concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells https://orcid.org/0000-0003-3691-0324 aberrant concentration in the blood of any of the proteins that act as catalysts for biological reactions MP:0000201 abnormal blood enzyme level MPheno.ontology MP:0001570 abnormal circulating enzyme level MP:0001570 aberrant concentration in the blood of any of the proteins that act as catalysts for biological reactions MGI:cwg true MP:0001571 true MP:0001572 aberrant concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2-ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction MP:0000204 abnormal ALT level abnormal GPT level abnormal alanine aminotransferase level abnormal alanine transaminase level abnormal SGPT level abnormal serum glutamate pyruvate transaminase level abnormal serum glutamic-pyruvic transaminase level MPheno.ontology MP:0001573 abnormal circulating alanine transaminase level MP:0001573 aberrant concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2-ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction ISBN:0-683-40008-8 any anomaly in the concentration of the gaseous element that is essential for animal and plant life MPheno.ontology MP:0001574 abnormal oxygen level MP:0001574 any anomaly in the concentration of the gaseous element that is essential for animal and plant life ISBN:0-683-40008-8 a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood cyanotic MPheno.ontology MP:0001575 cyanosis MP:0001575 a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood ISBN:0-683-40008-8 true MP:0001576 less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs anaemia MPheno.ontology MP:0001577 anemia MP:0001577 less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs ISBN:0-683-40008-8 PMID:9949198 true MP:0001578 true MP:0001579 true MP:0001580 true MP:0001581 true MP:0001582 true MP:0001583 OBSOLETE. a blood coagulation disorder in which there is a decrease or lack of platelet dense bodies MP:0004721 MP:0000212 platelet storage pooling deficiency MPheno.ontology MP:0001584 This is really a disease term; see OMIM:185050. obsolete platelet storage pool deficiency true MP:0001584 OBSOLETE. a blood coagulation disorder in which there is a decrease or lack of platelet dense bodies MESH:C15.378.100.685 deficiency of red cells resulting from an increased rate of erythrocyte destruction MP:0000213 haemolytic anaemia hemolytic anaemia increased rate of erythrocyte destruction MPheno.ontology MP:0001585 hemolytic anemia MP:0001585 deficiency of red cells resulting from an increased rate of erythrocyte destruction ISBN:0-683-40008-8 altered number of the cells that transport oxygen, red blood cells, per unit MP:0000214 abnormal RBC count abnormal definitive erythrocyte cell number abnormal erythrocyte count abnormal red blood cell count erythrocyte count abnormalities MPheno.ontology MP:0001586 abnormal erythrocyte cell number MP:0001586 altered number of the cells that transport oxygen, red blood cells, per unit https://orcid.org/0000-0003-3691-0324 true MP:0001587 defects in the levels or the function of the oxygen-carrying protein of erythrocytes MP:0000224 abnormal haemoglobin haemoglobin abnormalities haemoglobin defects hemoglobin abnormalities hemoglobin defects MPheno.ontology MP:0001588 abnormal hemoglobin MP:0001588 defects in the levels or the function of the oxygen-carrying protein of erythrocytes ISBN:0-683-40008-8 anomalies in the average levels of hemoglobin contained in an erythrocyte MP:0000225 MP:0002595 abnormal MCH abnormal mean corpuscular haemoglobin mean corpuscular haemoglobin mean corpuscular hemoglobin MPheno.ontology MP:0001589 Mean corpuscular hemoglobin (MCH) is a standard measurment in clinical chemistry, usually reported in picograms/cell. abnormal mean corpuscular hemoglobin MP:0001589 anomalies in the average levels of hemoglobin contained in an erythrocyte ISBN:0-683-40008-8 true MP:0001590 true MP:0001591 true MP:0001592 true MP:0001593 true MP:0001594 true MP:0001595 sustained low blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states MP:0000232 MPheno.ontology MP:0001596 hypotension MP:0001596 sustained low blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states ISBN:0-683-40008-8 true MP:0001597 anomaly in the resistance to flow of the blood through the vessels MP:0000234 MPheno.ontology MP:0001598 abnormal blood viscosity MP:0001598 anomaly in the resistance to flow of the blood through the vessels ISBN:0-683-40008-8 any anomaly in the amount of space occupied by the blood in the vessels MP:0000235 MPheno.ontology MP:0001599 abnormal blood volume MP:0001599 any anomaly in the amount of space occupied by the blood in the vessels ISBN:0-683-40008-8 true MP:0001600 anomaly in the process of, or atypical formation of myeloid cells from the pluripotent hematopoietic stem cells in the bone marrow from myeloid stem cells, including the production of leukocytes in blood, such as monocytes and granulocytes and precursor cells for macrophage and dendritic cells found in the lymphoid tissue MP:0000169 abnormal myeloid cell differentiation myelopoiesis abnormalities MPheno.ontology MP:0001601 abnormal myelopoiesis MP:0001601 anomaly in the process of, or atypical formation of myeloid cells from the pluripotent hematopoietic stem cells in the bone marrow from myeloid stem cells, including the production of leukocytes in blood, such as monocytes and granulocytes and precursor cells for macrophage and dendritic cells found in the lymphoid tissue MESH:G04.335.151.825.597.750 atypical process of bone marrow cell formation and/or the formation of bone marrow-derived blood cells with the result of fewer of these cells being formed MP:0000170 reduced myelopoiesis MPheno.ontology MP:0001602 impaired myelopoiesis MP:0001602 atypical process of bone marrow cell formation and/or the formation of bone marrow-derived blood cells with the result of fewer of these cells being formed ISBN:0-683-40008-8 MGI:tc missing the process of bone marrow cell formation and/or the formation of bone marrow-derived blood cells MP:0000171 absence of myelopoiesis MPheno.ontology MP:0001603 failure of myelopoiesis MP:0001603 missing the process of bone marrow cell formation and/or the formation of bone marrow-derived blood cells ISBN:0-683-40008-8 MGI:tc PMID:10716451 true MP:0001604 true MP:0001605 atypical process of blood cell formation with the result of fewer of these cells being formed MP:0000244 MP:0001607 impaired haematopoiesis reduced haematogenesis reduced haematopoiesis reduced haematosis reduced haemogenesis reduced haemopoiesis reduced hematogenesis reduced hematopoiesis reduced hematosis reduced hemogenesis reduced hemopoiesis reduced sanguification MPheno.ontology MP:0001606 impaired hematopoiesis MP:0001606 atypical process of blood cell formation with the result of fewer of these cells being formed MGI:tc PMID:10716451 true MP:0001607 true MP:0001608 true MP:0001609 true MP:0001610 true MP:0001611 true MP:0001612 anomaly in the physiological widening of the lumen of the blood vessels by relaxing the underlying vascular smooth muscle MP:0000251 MP:0005594 abnormal vascular endothelium-dependent relaxation abnormal vascular relaxation abnormal vascular smooth muscle dilation abnormal vasodilatation abnormal vasorelaxation MPheno.ontology MP:0001613 abnormal vasodilation MP:0001613 anomaly in the physiological widening of the lumen of the blood vessels by relaxing the underlying vascular smooth muscle ISBN:0-683-40008-8 MESH:G09.330.582.400.925 any structural anomaly of the network of tubes that carries blood through the body MP:0000252 MP:0001611 MP:0002125 blood vessel abnormalities vasculature abnormalities abnormal blood vasculature morphology blood vessel dysplasia vascular dysplasia MPheno.ontology MP:0001614 abnormal blood vessel morphology MP:0001614 any structural anomaly of the network of tubes that carries blood through the body https://orcid.org/0000-0003-3691-0324 OBSOLETE. MP:0001614 MP:0000253 Decreased Vasculature MPheno.ontology MP:0001615 obsolete Decreased Vasculature true MP:0001615 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MP:0001614 MP:0000254 MPheno.ontology MP:0001616 obsolete Increased Vasculature true MP:0001616 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001617 true MP:0001618 anomaly in the ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases MP:0000258 MPheno.ontology MP:0001619 abnormal vascular permeability MP:0001619 anomaly in the ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases ISBN:0-683-40008-8 true MP:0001620 true MP:0001621 aberrant process of the initial establishment of the vascular network MP:0000261 vasculogenesis abnormalities MPheno.ontology MP:0001622 abnormal vasculogenesis MP:0001622 aberrant process of the initial establishment of the vascular network https://orcid.org/0000-0003-3691-0324 true MP:0001623 true MP:0001624 an increase in size of the cardiac tissue, not due to increased cell number MPheno.ontology MP:0001625 cardiac hypertrophy MP:0001625 an increase in size of the cardiac tissue, not due to increased cell number ISBN:0-683-40008-8 true MP:0001626 anomaly in the blood volume pumped by each ventricle per minute (stroke volume x heart rate) MP:0000303 MPheno.ontology MP:0001627 abnormal cardiac output MP:0001627 anomaly in the blood volume pumped by each ventricle per minute (stroke volume x heart rate) MESH:E01.370.370.380.150 MGI:cwg true MP:0001628 greater than or fewer than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute MP:0000305 MPheno.ontology MP:0001629 abnormal heart rate MP:0001629 greater than or fewer than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute MESH:G09.330.553.660.500 https://orcid.org/0000-0002-0371-1954 true MP:0001630 true MP:0001631 true MP:0001632 insufficient movement of blood throughout the body, often manifesting in cold and/or pale skin MPheno.ontology cold skin pale skin MP:0001633 poor circulation MP:0001633 insufficient movement of blood throughout the body, often manifesting in cold and/or pale skin PMID:9362461 https://orcid.org/0000-0003-3691-0324 blood loss in the interior of the body due to vessel rupture or dysmorphology internal bleeding internal haemorrhage MPheno.ontology MP:0001634 internal hemorrhage MP:0001634 blood loss in the interior of the body due to vessel rupture or dysmorphology PMID:7854452 true MP:0001635 uneven timing of heart contraction arrhythmia altered heart rhythm MPheno.ontology MP:0001636 irregular heartbeat MP:0001636 uneven timing of heart contraction ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 OBSOLETE. complete cessation of cardiac activity MPheno.ontology MP:0001637 obsolete cardiac arrest true MP:0001637 OBSOLETE. complete cessation of cardiac activity ISBN:0-683-40008-8 true MP:0001638 true MP:0001639 true MP:0001640 OBSOLETE. cessation of life; cessation of integrated tissue and organ functions; a gradual process at the cellular level MP:0001657 MP:0010769 MPheno.ontology MP:0001641 obsolete death true MP:0001641 OBSOLETE. cessation of life; cessation of integrated tissue and organ functions; a gradual process at the cellular level ISBN:0-683-40008-8 true MP:0001642 true MP:0001643 true MP:0001644 true MP:0001645 true MP:0001646 true MP:0001647 excessive or absent cell death in a particular tissue or cell type GO:0006915 MPheno.ontology MP:0001648 abnormal apoptosis MP:0001648 excessive or absent cell death in a particular tissue or cell type ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the fibrocartilagenous union of the two halves of the mandible (embryonic stages) MP:0000096 abnormal inter-mandibular joint morphology abnormal intermandibular joint morphology abnormal symphysis menti morphology symphysis menti dysplasia MPheno.ontology abnormal mental symphysis morphology abnormal symphysis mandibulae morphology abnormal symphysis mentalis morphology MP:0001649 abnormal mandibular symphysis morphology MP:0001649 any structural anomaly of the fibrocartilagenous union of the two halves of the mandible (embryonic stages) ISBN:0-683-40008-8 PMID:7914451 anomaly in the seizure activity response that is brought about by high or low frequency electrical stimulation MPheno.ontology electrically induced seizures MP:0001650 abnormal seizure response to electrical stimulation MP:0001650 anomaly in the seizure activity response that is brought about by high or low frequency electrical stimulation MGI:wf https://orcid.org/0000-0003-3691-0324 pathological death of cells or a portion of a tissue or organ; usually due to irreversible damage MP:0000316 MPheno.ontology MP:0001651 This term is nonspecific. Use MP:0000316 for widespread cellular necrosis, or use tissue-specific terms. obsolete necrosis true MP:0001651 pathological death of cells or a portion of a tissue or organ; usually due to irreversible damage PMID:7830794 morphological changes resulting from pathological death of some or all colon tissue; usually due to irreversible damage necrotic colon MPheno.ontology MP:0001652 colonic necrosis MP:0001652 morphological changes resulting from pathological death of some or all colon tissue; usually due to irreversible damage MGI:cwg morphological changes resulting from pathological death of gastric tissue; usually due to irreversible damage necrotic stomach MPheno.ontology MP:0001653 gastric necrosis MP:0001653 morphological changes resulting from pathological death of gastric tissue; usually due to irreversible damage MGI:cwg morphological changes resulting from pathological death of liver tissue; usually due to irreversible damage liver necrosis necrotic liver MPheno.ontology MP:0001654 hepatic necrosis MP:0001654 morphological changes resulting from pathological death of liver tissue; usually due to irreversible damage MGI:cwg morphological changes resulting from multiple localized areas of pathological death of liver tissue; usually due to irreversible damage multifocal liver necrosis multifocally necrotic liver MPheno.ontology MP:0001655 multifocal hepatic necrosis MP:0001655 morphological changes resulting from multiple localized areas of pathological death of liver tissue; usually due to irreversible damage MGI:cwg morphological changes resulting from one or more localized areas of pathological death of some or all liver tissue; usually due to irreversible damage focal liver necrosis focally necrotic liver MPheno.ontology MP:0001656 focal hepatic necrosis MP:0001656 morphological changes resulting from one or more localized areas of pathological death of some or all liver tissue; usually due to irreversible damage MGI:cwg differences from the expected diseased state or death caused by an external intervention MPheno.ontology MP:0001657 abnormal induced morbidity/mortality MP:0001657 differences from the expected diseased state or death caused by an external intervention MGI:cwg greater sensitivity to doses of ionizing radiation MPheno.ontology MP:0001658 increased mortality induced by gamma-irradiation MP:0001658 greater sensitivity to doses of ionizing radiation J:51834 OBSOLETE. MP:0010769 MP:0001660 altered life span MPheno.ontology MP:0001659 obsolete altered life span true MP:0001659 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001660 persistence of life for a longer period than is normal for an organism extended lifespan MPheno.ontology MP:0001661 extended life span MP:0001661 persistence of life for a longer period than is normal for an organism MGI:cwg true MP:0001662 any functional anomaly of the organ system that converts ingested food to nutrients and energy MP:0002142 MGI:2173602 digestive system physiology abnormalities digestive system: functional anomalies MPheno.ontology MP:0001663 abnormal digestive system physiology MP:0001663 any functional anomaly of the organ system that converts ingested food to nutrients and energy MGI:cwg any anomaly of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism abnormal digestive function MPheno.ontology MP:0001664 abnormal digestion MP:0001664 any anomaly of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism GO:0007586 prolonged diarrhea chronic diarrhoea prolonged diarrhoea MPheno.ontology MP:0001665 chronic diarrhea MP:0001665 prolonged diarrhea ISBN:0-683-40008-8 any anomaly in the quantity or rate of any nutrient taken up from the contents of the intestine MP:0008865 abnormal nutrient absorption MPheno.ontology MP:0001666 abnormal intestinal absorption MP:0001666 any anomaly in the quantity or rate of any nutrient taken up from the contents of the intestine GO:0050892 any anomaly in the ability of the body to take in substances composed of carbon, hydrogen, and oxygen according to the general formula Cn(H2O)n; sugars and starches are examples MP:0001669 MPheno.ontology MP:0001667 Carbohydrates are not absorbed in the intestines; they must be converted to monosaccharides in the digestive process before uptake by the intestines. obsolete abnormal carbohydrate absorption true MP:0001667 any anomaly in the ability of the body to take in substances composed of carbon, hydrogen, and oxygen according to the general formula Cn(H2O)n; sugars and starches are examples MGI:cwg any anomaly in the ability of the small intestine to absorb fructose into the bloodstream abnormal fructose absorption MPheno.ontology MP:0001668 abnormal intestinal fructose absorption MP:0001668 any anomaly in the ability of the small intestine to absorb fructose into the bloodstream https://orcid.org/0000-0003-3691-0324 any anomaly in the ability of the small intestine to absorb glucose into the bloodstream abnormal glucose absorption abnormal intestinal D-glucose absorption MPheno.ontology MP:0001669 abnormal intestinal glucose absorption MP:0001669 any anomaly in the ability of the small intestine to absorb glucose into the bloodstream GO:0001951 https://orcid.org/0000-0003-3691-0324 any anomaly in the ability of the body to take up inorganic substances that have importance in body functions into the blood by absorption from the small intestine MPheno.ontology MP:0001670 abnormal intestinal mineral absorption MP:0001670 any anomaly in the ability of the body to take up inorganic substances that have importance in body functions into the blood by absorption from the small intestine https://orcid.org/0000-0003-3691-0324 any anomaly in the ability to take in any of a group of organic substances, present in food, that are essential to normal metabolism MPheno.ontology MP:0001671 abnormal vitamin absorption MP:0001671 any anomaly in the ability to take in any of a group of organic substances, present in food, that are essential to normal metabolism ISBN:0-683-40008-8 anomaly in the establishment of the characteristic configuration of the embryonic body GO:0007275 abnormal embryogenesis/ development embryogenesis/ development abnormalities MPheno.ontology MP:0001672 abnormal embryo development MP:0001672 anomaly in the establishment of the characteristic configuration of the embryonic body ISBN:0-683-40008-8 true MP:0001673 abnormal development of the three primary germ layers of the embryo abnormal triploblastic development MPheno.ontology MP:0001674 abnormal germ layer development MP:0001674 abnormal development of the three primary germ layers of the embryo ISBN:0-683-40008-8 MGI:tc any abnormality in the formation of the outer of the three primary germ layers of the embryo (the others being mesoderm and endoderm) that originates in the epiblast and is formed during gastrulation; ectoderm is in contact with the amnionic cavity and gives rise to two distinct lineages, i.e. the surface ectoderm and the neural ectoderm; it is the source of Rathke's pouch and forms the central and peripheral nervous systems, the sensory epithelia of the eye, ear, and nose, the epidermis and its appendages (nails and hair), the mammary, pituitary and subcutaneous glands, the tooth enamel, and the mucous membranes of the mouth and anus GO:0001705 MPheno.ontology MP:0001675 abnormal ectoderm development MP:0001675 any abnormality in the formation of the outer of the three primary germ layers of the embryo (the others being mesoderm and endoderm) that originates in the epiblast and is formed during gastrulation; ectoderm is in contact with the amnionic cavity and gives rise to two distinct lineages, i.e. the surface ectoderm and the neural ectoderm; it is the source of Rathke's pouch and forms the central and peripheral nervous systems, the sensory epithelia of the eye, ear, and nose, the epidermis and its appendages (nails and hair), the mammary, pituitary and subcutaneous glands, the tooth enamel, and the mucous membranes of the mouth and anus http://discovery.lifemapsc.com/in-vivo-development/ectoderm http://discovery.lifemapsc.com/library/review-of-medical-embryology/chapter-25-germ-layers-and-their-derivatives http://en.wikipedia.org/wiki/Ectoderm https://orcid.org/0000-0002-6490-7723 any structural anomaly of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme abnormal AER MPheno.ontology MP:0001676 abnormal apical ectodermal ridge morphology MP:0001676 any structural anomaly of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme MGI:tc missing the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme absence of apical ectodermal ridge absent AER MPheno.ontology MP:0001677 absent apical ectodermal ridge MP:0001677 missing the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme PMID:10227294 increase in the thickness of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme thick AER MPheno.ontology MP:0001678 thick apical ectodermal ridge MP:0001678 increase in the thickness of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme MGI:tc decrease in the thickness of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme thin AER MPheno.ontology MP:0001679 thin apical ectodermal ridge MP:0001679 decrease in the thickness of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme MGI:tc failure or abnormality in the formation of the middle of the three primary germ layers of the embryo (the others being ectoderm and endoderm) during gastrulation; mesoderm is the origin of connective tissues, myoblasts, blood, the cardiovascular and lymphatic systems, most of the urogenital system, and the lining of the pericardial, pleural, and peritoneal cavities MP:0001681 GO:0001707 abnormal mesoderm differentiation MPheno.ontology MP:0001680 abnormal mesoderm development MP:0001680 failure or abnormality in the formation of the middle of the three primary germ layers of the embryo (the others being ectoderm and endoderm) during gastrulation; mesoderm is the origin of connective tissues, myoblasts, blood, the cardiovascular and lymphatic systems, most of the urogenital system, and the lining of the pericardial, pleural, and peritoneal cavities https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 true MP:0001681 true MP:0001682 absence of the middle of the three primary germ layers of the embryo (the others being ectoderm and endoderm) during gastrulation; mesoderm is the origin of connective tissues, myoblasts, blood, the cardiovascular and lymphatic systems, most of the urogenital system, and the lining of the pericardial, pleural, and peritoneal cavities MP:0001682 GO:0001707 Failure of Mesoderm Formation absence of mesoderm MPheno.ontology MP:0001683 absent mesoderm MP:0001683 absence of the middle of the three primary germ layers of the embryo (the others being ectoderm and endoderm) during gastrulation; mesoderm is the origin of connective tissues, myoblasts, blood, the cardiovascular and lymphatic systems, most of the urogenital system, and the lining of the pericardial, pleural, and peritoneal cavities https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 failure or abnormality in the formation of part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord MPheno.ontology MP:0001684 abnormal axial mesoderm morphology MP:0001684 failure or abnormality in the formation of part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 any abnormality in the formation of the innermost of the three primary germ layers of the embryo (the others being mesoderm and ectoderm) during gastrulation; endoderm gives rise to the epithelial lining of the gastrointestinal and respiratory tracts; the parenchyma of the tonsils, the liver, the thymus, the thyroid, the parathyroids, and the pancreas; the epithelial lining of the urinary bladder, urethra, and prostate; and the epithelial lining of the tympanic cavity, tympanic antrum, and auditory tube MP:0001686 GO:0001706 abnormal definitive endoderm development abnormal endoderm differentiation abnormal entoderm development MPheno.ontology MP:0001685 abnormal endoderm development MP:0001685 any abnormality in the formation of the innermost of the three primary germ layers of the embryo (the others being mesoderm and ectoderm) during gastrulation; endoderm gives rise to the epithelial lining of the gastrointestinal and respiratory tracts; the parenchyma of the tonsils, the liver, the thymus, the thyroid, the parathyroids, and the pancreas; the epithelial lining of the urinary bladder, urethra, and prostate; and the epithelial lining of the tympanic cavity, tympanic antrum, and auditory tube http://discovery.lifemapsc.com/in-vivo-development/endoderm http://discovery.lifemapsc.com/library/review-of-medical-embryology/chapter-25-germ-layers-and-their-derivatives http://education-portal.com/academy/lesson/endoderm-layer-definition-derivatives-quiz.html#lesson true MP:0001686 reduced thickness of the innermost germ layer of the embryo thin definitive endoderm thin entoderm MPheno.ontology MP:0001687 thin endoderm MP:0001687 reduced thickness of the innermost germ layer of the embryo ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any anomaly in the formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo; somites are transient structures - balls or blocks of paraxial mesoderm cells with an epithelial outer layer and a mesenchymal cell core - that emerge sequentially through a mesenchymal-to-epithelial transition (MET) from the morphologically unpatterned presomitic mesoderm; they give rise to the metameric anatomy of the vertebral column itself, and the associated skin, muscle and tendons abnormal metablastic segment development abnormal somite formation abnormal somite segmentation abnormal somitogenesis MPheno.ontology MP:0001688 abnormal somite development MP:0001688 any anomaly in the formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo; somites are transient structures - balls or blocks of paraxial mesoderm cells with an epithelial outer layer and a mesenchymal cell core - that emerge sequentially through a mesenchymal-to-epithelial transition (MET) from the morphologically unpatterned presomitic mesoderm; they give rise to the metameric anatomy of the vertebral column itself, and the associated skin, muscle and tendons GO:0001756 PMID:21164524 arrest of differentiation or patterning of the somites MPheno.ontology MP:0001689 incomplete somite formation MP:0001689 arrest of differentiation or patterning of the somites J:62882 disorganized or absent somite tissue or somite pattern in development MPheno.ontology MP:0001690 failure of somite differentiation MP:0001690 disorganized or absent somite tissue or somite pattern in development J:25248 anomaly in the characteristic surface outline or contour of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo irregular somite shape MPheno.ontology MP:0001691 abnormal somite shape MP:0001691 anomaly in the characteristic surface outline or contour of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo https://orcid.org/0000-0003-3691-0324 true MP:0001692 inability to form the epiblast ridge from which arises the germ layers of the embryo GO:0007369 MPheno.ontology MP:0001693 failure of primitive streak formation MP:0001693 inability to form the epiblast ridge from which arises the germ layers of the embryo ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 inability of inner cell mass cells to grow towards the abembryonic pole to form a cylinder-like structure failure to form egg cylinders MPheno.ontology MP:0001694 absent egg cylinders MP:0001694 inability of inner cell mass cells to grow towards the abembryonic pole to form a cylinder-like structure ISBN:0-12-402035-6 https://orcid.org/0000-0003-3691-0324 any anomaly in the development and invagination of the embryonic germ layers GO:0007669 MPheno.ontology MP:0001695 in the mouse, gastrulation initiates at E6.5, as cells of the primitive ectoderm (epiblast) delaminate at the posterior side of the embryo and ingress through the primitive streak in an epithelial-to-mesenchymal transition abnormal gastrulation MP:0001695 any anomaly in the development and invagination of the embryonic germ layers ISBN:0-683-40008-8 inability to differentiate and invaginate the primary germ layers GO:0007669 MPheno.ontology MP:0001696 failure to gastrulate MP:0001696 inability to differentiate and invaginate the primary germ layers ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any anomaly in the proportions of embryo compared to littermates (sensu Mus: up to E14, or the completion of organogenesis) MPheno.ontology MP:0001697 abnormal embryo size MP:0001697 any anomaly in the proportions of embryo compared to littermates (sensu Mus: up to E14, or the completion of organogenesis) MGI:cwg smaller proportions of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis) reduced embryo size small embryo MPheno.ontology MP:0001698 decreased embryo size MP:0001698 smaller proportions of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis) MGI:cwg larger proportions of embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis) enlarged embryo size MPheno.ontology MP:0001699 increased embryo size MP:0001699 larger proportions of embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis) MGI:cwg atypical axial rotation of the germ layers of the embryo during the primitive streak/early somite stage during which the curvature of the entire trunk region is normally reversed and the neural ectoderm moves to the convex region and the midgut region becomes located in the concave region GO:0007669 Abnormal Turning of Embryo abnormal embryonic axial rotation MPheno.ontology MP:0001700 In mouse, this event occurs at E8.5-E9.5. abnormal embryo turning MP:0001700 atypical axial rotation of the germ layers of the embryo during the primitive streak/early somite stage during which the curvature of the entire trunk region is normally reversed and the neural ectoderm moves to the convex region and the midgut region becomes located in the concave region ISBN:0-12-402035-6 https://orcid.org/0000-0003-3691-0324 arrest of the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage GO:0007669 MPheno.ontology MP:0001701 In mouse, this event occurs at E8.5-E9.5. incomplete embryo turning MP:0001701 arrest of the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage J:62571 true MP:0001702 true MP:0001703 anomaly in the development or formation of the axis that runs from the front to the back surface of the body abnormal back-front patterning MPheno.ontology MP:0001704 abnormal dorsal-ventral axis patterning MP:0001704 anomaly in the development or formation of the axis that runs from the front to the back surface of the body https://orcid.org/0000-0003-3691-0324 anomaly in the formation or development of a body structure, often a limb, in relation to the structure's proximity to the trunk or point of origin MPheno.ontology MP:0001705 abnormal proximal-distal axis patterning MP:0001705 anomaly in the formation or development of a body structure, often a limb, in relation to the structure's proximity to the trunk or point of origin MGI:cwg anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ abnormal L-R axis patterning abnormal dextro-sinistral axis patterning abnormal sinistro-dextral axis patterning MPheno.ontology MP:0001706 abnormal left-right axis patterning MP:0001706 anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ MGI:cwg true MP:0001707 true MP:0001708 true MP:0001709 failure of the amnion to form involutions absence of amniotic folds MPheno.ontology MP:0001710 absent amniotic folds MP:0001710 failure of the amnion to form involutions MGI:cwg any structural anomaly of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin abnormal placental morphology MPheno.ontology MP:0001711 abnormal placenta morphology MP:0001711 any structural anomaly of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin https://orcid.org/0000-0003-3691-0324 malformed or incomplete differentiation of the organ of metabolic exchange between the fetus and mother abnormal placental development MPheno.ontology MP:0001712 abnormal placenta development MP:0001712 malformed or incomplete differentiation of the organ of metabolic exchange between the fetus and mother ISBN:0-683-40008-8 fewer than normal number of cells of the extraembryonic cell layer that contributes to the placenta reduced trophoblast giant cell number MPheno.ontology MP:0001713 decreased trophoblast giant cell number MP:0001713 fewer than normal number of cells of the extraembryonic cell layer that contributes to the placenta ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 missing cells of the extraembryonic cell layer that contribute to the placenta absence of trophoblast cells MPheno.ontology MP:0001714 absent trophoblast giant cells MP:0001714 missing cells of the extraembryonic cell layer that contribute to the placenta ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the placental labyrinth, typically resulting in decreased size hypoplasia of labyrinth hypoplastic labyrinth hypoplastic placental labyrinth MPheno.ontology MP:0001715 placental labyrinth hypoplasia MP:0001715 decrease in the number of normal cells in normal arrangement in the placental labyrinth, typically resulting in decreased size ISBN:0-683-40008-8 any structural anomaly of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood, and is the site where the exchange of nutrients and waste products occurs between the maternal and fetal circulation abnormal placenta labyrinthine zone morphology abnormal placental labyrinth morphology MPheno.ontology abnormal labyrinth layer morphology MP:0001716 abnormal placenta labyrinth morphology MP:0001716 any structural anomaly of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood, and is the site where the exchange of nutrients and waste products occurs between the maternal and fetal circulation PMID:10888863 missing the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta absence of ectoplacental cone absent epamniotic cone MPheno.ontology MP:0001717 absent ectoplacental cone MP:0001717 missing the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta MGI:cwg any structural anomaly of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo; the yolk that it contains is the site of embryonic hematopoiesis and vitelline circulation is involved in early embryonic circulation; it is the origin of the primordial germ cells abnormal yolk sac morphology abnormal secondary yolk sac morphology abnormal umbilical vesicle morphology abnormal vitelline sac morphology MPheno.ontology MP:0001718 abnormal visceral yolk sac morphology MP:0001718 any structural anomaly of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo; the yolk that it contains is the site of embryonic hematopoiesis and vitelline circulation is involved in early embryonic circulation; it is the origin of the primordial germ cells ISBN10:9780123364258 ISBN:0-683-40008-8 PMID:21123814 absence of the vascular network that supplies the yolk sac absence of vitelline blood vessels absent omphalomesenteric vessels MPheno.ontology MP:0001719 absent vitelline blood vessels MP:0001719 absence of the vascular network that supplies the yolk sac ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001720 obsolete excessive surface folding true MP:0001720 OBSOLETE. https://orcid.org/0000-0003-3691-0324 absence of the masses of developing blood cells attached to endothelium in the yolk sac absence of blood islands absent blood islands MPheno.ontology MP:0001721 absent visceral yolk sac blood islands MP:0001721 absence of the masses of developing blood cells attached to endothelium in the yolk sac PMID:16140152 bloodless yolk sac MPheno.ontology MP:0001722 pale yolk sac MP:0001722 bloodless yolk sac J:62571 derangement in the pattern of the primary (honeycomb-like) vasculature of the yolk sac prior to remodeling into a mature vascular network disorganised yolk sac vascular plexus MPheno.ontology MP:0001723 disorganized yolk sac vascular plexus MP:0001723 derangement in the pattern of the primary (honeycomb-like) vasculature of the yolk sac prior to remodeling into a mature vascular network https://orcid.org/0000-0003-3691-0324 malformation of the derivative of the hypoblast cells that migrate into the blastocyst cavity, and line the cavity, giving rise to the primary and definitive yolk sacs; the extraembryonic endoderm fills the remaining cavity of the blastocyst MPheno.ontology MP:0001724 abnormal extraembryonic endoderm formation MP:0001724 malformation of the derivative of the hypoblast cells that migrate into the blastocyst cavity, and line the cavity, giving rise to the primary and definitive yolk sacs; the extraembryonic endoderm fills the remaining cavity of the blastocyst http://discovery.lifemapsc.com/in-vivo-development/hypoblast/extraembryonic-endoderm any structural anomaly of the connective stalk between the fetus and the placenta abnormal chorda umbilicalis morphology abnormal funiculus umbilicalis morphology umbilical cord dysplasia MPheno.ontology MP:0001725 abnormal umbilical cord morphology MP:0001725 any structural anomaly of the connective stalk between the fetus and the placenta ISBN:0-683-40008-8 PMID:9144284 any structural anomaly fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels MPheno.ontology MP:0001726 abnormal allantois morphology MP:0001726 any structural anomaly fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels ISBN:0-683-40008-8 anomaly in the process in which the blastocyst and/or the uterine environment to successfully synchronize allowing attachment of the blastocyst to the epithelial lining of the uterus, its penetration through the epithelium and any subsequent physiological interactions necessary to sustain embryonic development MPheno.ontology MP:0001727 abnormal embryo implantation MP:0001727 anomaly in the process in which the blastocyst and/or the uterine environment to successfully synchronize allowing attachment of the blastocyst to the epithelial lining of the uterus, its penetration through the epithelium and any subsequent physiological interactions necessary to sustain embryonic development ISBN:0-683-40008-8 MGI:llw2 PMID:10882512 inability of the blastocyst and/or the uterine environment to successfully synchronize allowing attachment of the blastocyst to the epithelial lining of the uterus, its penetration through the epithelium and any subsequent physiological interactions necessary to sustain embryonic development failure of implantation MPheno.ontology MP:0001728 failure of embryo implantation MP:0001728 inability of the blastocyst and/or the uterine environment to successfully synchronize allowing attachment of the blastocyst to the epithelial lining of the uterus, its penetration through the epithelium and any subsequent physiological interactions necessary to sustain embryonic development PMID:10882512 impaired ability of the blastocyst and/or the uterine environment to successfully synchronize allowing attachment of the blastocyst to the epithelial lining of the uterus, its penetration through the epithelium and any subsequent physiological interactions necessary to sustain embryonic development defective implantation impaired implantation MPheno.ontology abnormal blastocyst activation abnormal blastocyst competency MP:0001729 impaired embryo implantation MP:0001729 impaired ability of the blastocyst and/or the uterine environment to successfully synchronize allowing attachment of the blastocyst to the epithelial lining of the uterus, its penetration through the epithelium and any subsequent physiological interactions necessary to sustain embryonic development ISBN:0-683-40008-8 PMID:10882512 the cessation of development beyond a particular stage arrested embryonic development MPheno.ontology MP:0001730 embryonic growth arrest MP:0001730 the cessation of development beyond a particular stage J:17509 anomaly in reaching a developmental stage or stages after birth abnormal growth after birth MPheno.ontology MP:0001731 abnormal postnatal growth MP:0001731 anomaly in reaching a developmental stage or stages after birth MGI:il slow or limited development after birth decreased growth rate reduced growth rate retarded growth after birth stunted growth atelia ateliosis MPheno.ontology MP:0001732 postnatal growth retardation MP:0001732 slow or limited development after birth ISBN:0-683-40008-8 true MP:0001733 OBSOLETE. any structural anomaly of any of the glands that have no ducts, their secretions being absorbed directly into the blood MP:0002163 MP:0002164 MPheno.ontology MP:0001734 obsolete abnormal endocrine organ true MP:0001734 OBSOLETE. any structural anomaly of any of the glands that have no ducts, their secretions being absorbed directly into the blood ISBN:0-683-40008-8 true MP:0001735 true MP:0001736 true MP:0001737 true MP:0001738 altered ability of the surparenal gland to produce or secrete hormones MPheno.ontology abnormal adrenal secretion MP:0001739 abnormal adrenal gland secretion MP:0001739 altered ability of the surparenal gland to produce or secrete hormones MGI:hdene inability of adrenal gland to deliver epinephrine into the blood stream failure of adrenaline secretion failure of epinephrine secretion MPheno.ontology MP:0001740 failure of adrenal epinephrine secretion MP:0001740 inability of adrenal gland to deliver epinephrine into the blood stream ISBN:0-683-40008-8 PMID:10357937 https://orcid.org/0000-0003-3691-0324 OBSOLETE. less than the normal formation of this catecholamine hormone that stimulates the adrenergic receptors decreased epinephrine synthesis reduced adrenaline synthesis reduced epinephrine synthesis MPheno.ontology MP:0001741 obsolete decreased adrenaline synthesis true MP:0001741 OBSOLETE. less than the normal formation of this catecholamine hormone that stimulates the adrenergic receptors ISBN:0-683-40008-8 MGI:cwg absence in the circulation of a catecholamine hormone that stimulates the adrenergic receptors and causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels absence of circulating adrenaline absence of epinephrine MPheno.ontology MP:0001742 absent circulating adrenaline MP:0001742 absence in the circulation of a catecholamine hormone that stimulates the adrenergic receptors and causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels ISBN:0-683-40008-8 absence of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine absence of noradrenaline absence of norepinephrine MPheno.ontology MP:0001743 absent circulating noradrenaline MP:0001743 absence of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine ISBN:0198506732 increased release of this adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion MPheno.ontology MP:0001744 hypersecretion of corticosterone MP:0001744 increased release of this adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 greater than the normal blood amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion hypercorticosteronaemia hypercorticosteronemia elevated serum levels of corticosterone MPheno.ontology MP:0001745 increased circulating corticosterone level MP:0001745 greater than the normal blood amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion ISBN:0-683-40008-8 PMID:10357937 https://orcid.org/0000-0003-3691-0324 anomaly in the production and/or release of biologically active substances from pituitary tissue MPheno.ontology MP:0001746 abnormal pituitary secretion MP:0001746 anomaly in the production and/or release of biologically active substances from pituitary tissue https://orcid.org/0000-0003-3691-0324 increased release of this pituitary hormone from the pituitary gland that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex hypersecretion of ACTH MPheno.ontology MP:0001747 hypersecretion of adrenocorticotropin MP:0001747 increased release of this pituitary hormone from the pituitary gland that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 elevated concentration in the blood of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex elevated serum levels of ACTH increased serum levels of ACTH increased serum levels of adrenocorticotropic hormone increased serum levels of adrenocorticotropin increased serum levels of adrenotropic hormone increased serum levels of adrenotropin MPheno.ontology MP:0001748 increased circulating adrenocorticotropin level MP:0001748 elevated concentration in the blood of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex ISBN:0-683-40008-8 PMID:10357937 https://orcid.org/0000-0003-3691-0324 repression of secretion into the blood of FSH, the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis suppressed FSH levels suppressed follicle stimulating hormone levels MPheno.ontology MP:0001749 suppressed circulating follicle stimulating hormone level MP:0001749 repression of secretion into the blood of FSH, the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis ISBN:0-683-40008-8 higher than normal levels in the blood stream of FSH, the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis increased serum levels of FSH increased serum levels of follicle stimulating hormone increased serum levels of follitropin increased serum levels of gametokinetic hormone MPheno.ontology MP:0001750 increased circulating follicle stimulating hormone level MP:0001750 higher than normal levels in the blood stream of FSH, the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis ISBN:0-683-40008-8 J:35782 higher than the normal levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary increased circulating luteinising hormone level increased serum levels of LH increased serum levels of luteinising hormone increased serum levels of luteinizing hormone increased serum levels of lutropin MPheno.ontology MP:0001751 increased circulating luteinizing hormone level MP:0001751 higher than the normal levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary MESH:D06.472.699.322.576.463 altered ability of the hypothalamus to produce or release biologically active substances MPheno.ontology MP:0001752 abnormal hypothalamus secretion MP:0001752 altered ability of the hypothalamus to produce or release biologically active substances MGI:cwg excessive release of this factor, which normally stimulates the pituitary to release adrenocorticotropic hormone, from the hypothalamus hypersecretion of CRH MPheno.ontology MP:0001753 hypersecretion of corticotropin-releasing hormone MP:0001753 excessive release of this factor, which normally stimulates the pituitary to release adrenocorticotropic hormone, from the hypothalamus ISBN:0-683-40008-8 MGI:cwg higher than average amount of CRH in blood; CRH is normally released by the hypothalamus and stimulates the release of corticotropin by the anterior pituitary gland elevated serum levels of CRH elevated serum levels of corticotropin-releasing hormone MPheno.ontology MP:0001754 increased circulating corticotropin-releasing hormone level MP:0001754 higher than average amount of CRH in blood; CRH is normally released by the hypothalamus and stimulates the release of corticotropin by the anterior pituitary gland PMID:10471508 OBSOLETE. MP:0001663 MP:0001756 excretion defects excretion physiological abnormalities MPheno.ontology MP:0001755 obsolete abnormal excretion physiology true MP:0001755 OBSOLETE. https://orcid.org/0000-0003-3691-0324 anomaly in the process in which parasympathetic nerves stimulate the bladder wall muscle to contract resulting in the expulsion of urine from the body GO:0060073 abnormal micturition MPheno.ontology abnormal urine voiding MP:0001756 abnormal urination MP:0001756 anomaly in the process in which parasympathetic nerves stimulate the bladder wall muscle to contract resulting in the expulsion of urine from the body https://orcid.org/0000-0003-3691-0324 true MP:0001757 any change in the amount of glucose in the urine MPheno.ontology MP:0001758 abnormal urine glucose level MP:0001758 any change in the amount of glucose in the urine https://orcid.org/0000-0003-3691-0324 a greater amount of glucose in the urine compared to the normal state glucosuria glycosuria MPheno.ontology MP:0001759 increased urine glucose level MP:0001759 a greater amount of glucose in the urine compared to the normal state https://orcid.org/0000-0003-3691-0324 any change in the level of enzymes in the urine MPheno.ontology MP:0001760 abnormal urine enzyme level MP:0001760 any change in the level of enzymes in the urine https://orcid.org/0000-0003-3691-0324 increased or decreased frequency of urination episodes, or extended periods of anuria MPheno.ontology MP:0001761 abnormal urination pattern MP:0001761 increased or decreased frequency of urination episodes, or extended periods of anuria https://orcid.org/0000-0003-4606-0597 increased volume of urine produced and excreted diuresis increased urine output increased urine volume MPheno.ontology MP:0001762 Clinicians sometimes mistakenly label increased urinary frequency as polyuria (increased urine output); Though rarely used, pollakisuria (or pollakiuria) is the correct term for increased frequency of urination. polyuria MP:0001762 increased volume of urine produced and excreted MGI:cwg https://orcid.org/0000-0003-4606-0597 OBSOLETE. MP:0001761 MPheno.ontology MP:0001763 obsolete Infrequent Urination true MP:0001763 OBSOLETE. https://orcid.org/0000-0003-3691-0324 anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the fluids and tissues abnormal homeostatic process homeostasis abnormalities MPheno.ontology MP:0001764 abnormal homeostasis MP:0001764 anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the fluids and tissues ISBN:0-683-40008-8 anomaly in the processes involved in the maintenance of an internal equilibrium of charged molecules in the fluids and tissues MPheno.ontology MP:0001765 abnormal ion homeostasis MP:0001765 anomaly in the processes involved in the maintenance of an internal equilibrium of charged molecules in the fluids and tissues MGI:cwg OBSOLETE. MPheno.ontology MP:0001766 obsolete abnormal aluminum level true MP:0001766 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001767 true MP:0001768 true MP:0001769 any anomaly in the concentrations of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins and is an essential component of enzymes such as catalase, peroxidase, and various cytochromes MP:0000209 MP:0001581 MPheno.ontology MP:0001770 abnormal iron level MP:0001770 any anomaly in the concentrations of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins and is an essential component of enzymes such as catalase, peroxidase, and various cytochromes ISBN:0-683-40008-8 any anomaly in the blood concentration of magnesium abnormal blood magnesium level MPheno.ontology MP:0001771 abnormal circulating magnesium level MP:0001771 any anomaly in the blood concentration of magnesium ISBN:0-683-40008-8 true MP:0001772 true MP:0001773 true MP:0001774 any anomaly in the concentration of selenium, which is required for glutathione peroxidase and other enzymes MPheno.ontology MP:0001775 abnormal selenium level MP:0001775 any anomaly in the concentration of selenium, which is required for glutathione peroxidase and other enzymes ISBN:0-683-40008-8 any anomaly in the concentration in the blood of sodium, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume abnormal blood sodium level MPheno.ontology MP:0001776 abnormal circulating sodium level MP:0001776 any anomaly in the concentration in the blood of sodium, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume ISBN:0-683-40008-8 any anomaly in the process in which an organism modulates or maintains its internal body temperature abnormal body temperature regulation abnormal temperature regulation abnormal thermoregulation MPheno.ontology MP:0001777 abnormal body temperature homeostasis MP:0001777 any anomaly in the process in which an organism modulates or maintains its internal body temperature GO:0001659 https://orcid.org/0000-0003-3691-0324 anomaly in the amount of the thermogenic form of adipose tissue that is composed of brown adipocytes MP:0000004 abnormal brown fat amount MPheno.ontology MP:0001778 abnormal brown adipose tissue amount MP:0001778 anomaly in the amount of the thermogenic form of adipose tissue that is composed of brown adipocytes MGI:cwg true MP:0001779 reduced quantity of the thermogenic form of adipose tissue that is composed of brown adipocytes MP:0000006 decreased brown fat reduced brown fat reduced brown fat amount MPheno.ontology decreased brown fat amount MP:0001780 decreased brown adipose tissue amount MP:0001780 reduced quantity of the thermogenic form of adipose tissue that is composed of brown adipocytes MGI:cwg anomaly in the quantity of the white fat-storing cells/tissue MP:0000007 abnormal white fat amount MPheno.ontology MP:0001781 abnormal white adipose tissue amount MP:0001781 anomaly in the quantity of the white fat-storing cells/tissue MGI:cwg true MP:0001782 reduced quantity of fat-storing cells/tissue MP:0000009 decreased white fat decreased white fat amount reduced white adipose tissue amount reduced white fat reduced white fat amount MPheno.ontology MP:0001783 decreased white adipose tissue amount MP:0001783 reduced quantity of fat-storing cells/tissue MGI:cwg any anomaly in the control of intracellular and/or extracellular fluid MPheno.ontology MP:0001784 abnormal fluid regulation MP:0001784 any anomaly in the control of intracellular and/or extracellular fluid MGI:cwg an accumulation of an excessive amount of watery fluid in cells or intercellular tissues MP:0001338 oedema MPheno.ontology MP:0001785 edema MP:0001785 an accumulation of an excessive amount of watery fluid in cells or intercellular tissues ISBN:0-683-40008-8 accumulation of an excessive amount of fluid in the skin layers or just underneath the skin MP:0001207 skin oedema MPheno.ontology subcutaneous edema subcutaneous oedema MP:0001786 skin edema MP:0001786 accumulation of an excessive amount of fluid in the skin layers or just underneath the skin J:65039 accumulation of watery fluid in the pericardial sac of the heart MP:0000290 pericardial oedema pericardial sac edema pericardial sac oedema pericardium edema pericardium oedema MPheno.ontology MP:0001787 pericardial edema MP:0001787 accumulation of watery fluid in the pericardial sac of the heart J:52597 accumulation of an excessive amount of fluid in the area around the orbit MP:0001339 periorbital oedema MPheno.ontology MP:0001788 periorbital edema MP:0001788 accumulation of an excessive amount of fluid in the area around the orbit MGI:tc PMID:10716451 true MP:0001789 deviation from the normal function of the immune system MP:0001789 GO:0006955 immune system/response abnormalities immune system: response/ function abnormalities MPheno.ontology MP:0001790 abnormal immune system physiology MP:0001790 deviation from the normal function of the immune system MGI:cwg OBSOLETE. defective immune response; can be primary due to defect in immune system or secondary due to disease MPheno.ontology MP:0001791 obsolete immunodeficiency true MP:0001791 OBSOLETE. defective immune response; can be primary due to defect in immune system or secondary due to disease ISBN:0-683-40008-8 reduced ability or inability to self-repair and close wounds impaired wound repair MPheno.ontology MP:0001792 impaired wound healing MP:0001792 reduced ability or inability to self-repair and close wounds J:65302 MGI:cwg a change in the likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens MP:0002548 altered resistance to infection altered susceptibility to infection MPheno.ontology MP:0001793 abnormal susceptibility to infection MP:0001793 a change in the likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens ISBN:0-683-40008-8 MGI:cwg OBSOLETE. MPheno.ontology MP:0001794 obsolete Bacterial true MP:0001794 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001795 obsolete Gram Negative true MP:0001795 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001796 obsolete Gram Positive true MP:0001796 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001797 obsolete Opportunistic Infections of the Intestinal Tract true MP:0001797 OBSOLETE. https://orcid.org/0000-0003-3691-0324 reduced ability of macrophage phagocytic cells to internalize particulate matter decreased macrophage phagocytosis MPheno.ontology MP:0001798 impaired macrophage phagocytosis MP:0001798 reduced ability of macrophage phagocytic cells to internalize particulate matter ISBN:0-8153-1691-7 MGI:cwg OBSOLETE. MPheno.ontology MP:0001799 obsolete Viral true MP:0001799 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any functional anomaly of the aspect of immunity that is mediated by secreted antibodies produced in the cells of the B lymphocyte lineage (B cell) and the accessory processes that accompany it, including Th2 activation and cytokine production, germinal center formation and isotype switching, affinity maturation and memory cell generation; it also refers to the effector functions of antibody, which include pathogen and toxin neutralization, classical complement activation, and opsonin promotion of phagocytosis and pathogen elimination abnormal humoural immune response antibody-mediated immune response abnormalities humoral immune response dysfunction humoural immune response dysfunction MPheno.ontology MP:0001800 abnormal humoral immune response MP:0001800 any functional anomaly of the aspect of immunity that is mediated by secreted antibodies produced in the cells of the B lymphocyte lineage (B cell) and the accessory processes that accompany it, including Th2 activation and cytokine production, germinal center formation and isotype switching, affinity maturation and memory cell generation; it also refers to the effector functions of antibody, which include pathogen and toxin neutralization, classical complement activation, and opsonin promotion of phagocytosis and pathogen elimination ISBN:081533642X https://orcid.org/0000-0003-3691-0324 abnormal humoural immune response https://orcid.org/0000-0002-6490-7723 humoural immune response dysfunction https://orcid.org/0000-0002-6490-7723 true MP:0001801 inability to produce mature B cells, and accumulation of B cell precursors MP:0002457 arrested B cell development arrested B lymphocyte development arrested B-cell development failed B cell maturation failed B lymphocyte maturation failed B-cell maturation failure of B cell maturation failure of B lymphocyte maturation failure of B-cell maturation MPheno.ontology MP:0001802 arrested B cell differentiation MP:0001802 inability to produce mature B cells, and accumulation of B cell precursors J:52607 true MP:0001803 OBSOLETE. functional anomaly of any of the complement proteins MP:0010215 complement protein dysfunction MPheno.ontology MP:0001804 obsolete abnormal complement protein physiology true MP:0001804 OBSOLETE. functional anomaly of any of the complement proteins MGI:cwg less than normal immunoglobulin class G level MP:0001815 reduced IgG level decreased serum level of immunoglobulin G MPheno.ontology MP:0001805 decreased IgG level MP:0001805 less than normal immunoglobulin class G level MGI:cwg less than normal immunoglobulin class M level MP:0001816 reduced IgM level decreased serum level of immunoglobulin M MPheno.ontology MP:0001806 decreased IgM level MP:0001806 less than normal immunoglobulin class M level MGI:cwg less than normal immunoglobulin class A level reduced IgA level MPheno.ontology MP:0001807 decreased IgA level MP:0001807 less than normal immunoglobulin class A level MGI:cwg OBSOLETE. MP:0008071 MPheno.ontology MP:0001808 obsolete B cell Immunodeficiency true MP:0001808 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MP:0002490 MPheno.ontology MP:0001809 obsolete Abnormal Immunoglobulin Production true MP:0001809 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001810 true MP:0001811 true MP:0001812 true MP:0001813 true MP:0001814 true MP:0001815 true MP:0001816 OBSOLETE. MP:0002459 MP:0002490 MPheno.ontology MP:0001817 obsolete abnormal antibody production true MP:0001817 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MP:0002459 MP:0002490 MPheno.ontology MP:0001818 obsolete abnormal antibody titer true MP:0001818 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any functional anomaly of the cells of the immune system immune cell dysfunction MPheno.ontology MP:0001819 abnormal immune cell physiology MP:0001819 any functional anomaly of the cells of the immune system MGI:cwg OBSOLETE. abnormal activated B lymphocyte number abnormal activated B-cell number MPheno.ontology MP:0001820 obsolete abnormal activated B cell number true MP:0001820 true MP:0001821 true MP:0001822 decrease in the number of normal cells in normal arrangement in the thymus, typically resulting in decreased size MP:0000707 hypoplastic thymus thymic hypoplasia MPheno.ontology decreased thymus cellularity MP:0001823 thymus hypoplasia MP:0001823 decrease in the number of normal cells in normal arrangement in the thymus, typically resulting in decreased size MGI:cwg premature or late decline in thymic function normally associated with advancing age MP:0000710 abnormal thymic involution involuted thymus MPheno.ontology MP:0001824 abnormal thymus involution MP:0001824 premature or late decline in thymic function normally associated with advancing age https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 failure of T cell formation to proceed past a defined stage arrested T cell development arrested T-cell development MPheno.ontology MP:0001825 arrested T cell differentiation MP:0001825 failure of T cell formation to proceed past a defined stage MGI:cwg true MP:0001826 true MP:0001827 anomaly in the process of producing effector T cells from naive T cells abnormal T-cell activation MPheno.ontology MP:0001828 This process requires recognition of a foreign peptide fragment bound to self-MHC and the simultaneous delivery of a co-stimulatory signal by an antigen presenting cell; it results in the clonal expansion of naive T cells and their differentiation into armed effector cells. abnormal T cell activation MP:0001828 anomaly in the process of producing effector T cells from naive T cells ISBN:0-8153-1691-7 MGI:cwg greater than normal numbers of effector T cells MP:0000320 increased activated T-cell number MPheno.ontology MP:0001829 increased activated T cell number MP:0001829 greater than normal numbers of effector T cells MGI:cwg reduced numbers of effector T cells MP:0000331 decreased activated T-cell number reduced activated T cell number MPheno.ontology MP:0001830 decreased activated T cell number MP:0001830 reduced numbers of effector T cells MGI:cwg OBSOLETE.defective immune response due to defective T-lymphocyte response MP:0008070 MP:0002537 T-cell deficiency T-cell immunodeficiency MPheno.ontology MP:0001831 obsolete T cell immunodeficiency true MP:0001831 OBSOLETE.defective immune response due to defective T-lymphocyte response ISBN:0-683-40008-8 OBSOLETE. MP:0003790 MPheno.ontology MP:0001832 obsolete CD4-Positive cell immunodeficiency true MP:0001832 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MP:0000727 MPheno.ontology MP:0001833 obsolete CD8- Positive cell immunodeficiency true MP:0001833 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MP:0002451 MPheno.ontology MP:0001834 obsolete macrophage immunodeficiency/impairment true MP:0001834 OBSOLETE. https://orcid.org/0000-0003-3691-0324 aberration in the process by which by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex antigen presentation dysfunction MPheno.ontology MP:0001835 abnormal antigen presentation MP:0001835 aberration in the process by which by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex GO:0019882 anomaly in the process by which peptide, bound to major histocompatibility complex class I, is presented to lymphocytes at the surface of antigen presenting cells inability to present cytosolic antigens to Class-I restricted cytotoxic T cells MPheno.ontology MP:0001836 abnormal antigen presentation via MHC class I MP:0001836 anomaly in the process by which peptide, bound to major histocompatibility complex class I, is presented to lymphocytes at the surface of antigen presenting cells MGI:cwg impaired production of major histocompatibility complex class I molecules MPheno.ontology MP:0001837 defective assembly of class I molecules MP:0001837 impaired production of major histocompatibility complex class I molecules MGI:cwg impaired ability to move major histocompatibility complex class I molecules to the cell surface MPheno.ontology MP:0001838 defective intracellular transport of class I molecules MP:0001838 impaired ability to move major histocompatibility complex class I molecules to the cell surface MGI:cwg deviation from the normal concentration of major histocompatibility complex class I molecules expressed at the cell surface MPheno.ontology MP:0001839 Almost all nucleated blood cells express class I molecules on their surfaces (red blood cells, being non-nucleated, do not); MHC class I molecules present peptides from pathogens in the cytosol (often viruses) to CD8 T cells. abnormal level of surface class I molecules MP:0001839 deviation from the normal concentration of major histocompatibility complex class I molecules expressed at the cell surface ISBN:0-8153-1691-7 MGI:cwg greater than normal expression of major histocompatibility complex class I molecules at the cell surface MPheno.ontology MP:0001840 increased level of surface class I molecules MP:0001840 greater than normal expression of major histocompatibility complex class I molecules at the cell surface MGI:cwg reduced expression of major histocompatibility complex class I molecules at the cell surface reduced level of surface class I molecules MPheno.ontology MP:0001841 decreased level of surface class I molecules MP:0001841 reduced expression of major histocompatibility complex class I molecules at the cell surface MGI:cwg OBSOLETE. MPheno.ontology MP:0001842 obsolete inability to present cytosolic antigens to Class-I restricted cytotoxic T cells true MP:0001842 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001843 condition in which cells and/or antibodies arise from and are directed against one's own tissues MPheno.ontology MP:0001844 autoimmune response MP:0001844 condition in which cells and/or antibodies arise from and are directed against one's own tissues ISBN:0-683-40008-8 aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues inflammation inflammatory response MPheno.ontology MP:0001845 abnormal inflammatory response MP:0001845 aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues ISBN:0-397-51047-0 greater than expected response to injury, infection, or insult MPheno.ontology MP:0001846 increased inflammatory response MP:0001846 greater than expected response to injury, infection, or insult MGI:cwg local accumulation of fluid, plasma proteins, and leukocytes in the brain encephalitis MPheno.ontology MP:0001847 brain inflammation MP:0001847 local accumulation of fluid, plasma proteins, and leukocytes in the brain ISBN:0-8153-1691-7 MGI:cwg local accumulation of fluid, plasma proteins, and leukocytes in the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera choroiditis MPheno.ontology MP:0001848 choroid inflammation MP:0001848 local accumulation of fluid, plasma proteins, and leukocytes in the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera ISBN:0-8153-1691-7 local accumulation of fluid, plasma proteins and leukocytes in the ear MPheno.ontology MP:0001849 ear inflammation MP:0001849 local accumulation of fluid, plasma proteins and leukocytes in the ear ISBN:0-8153-1691-7 MGI:cwg greater likelihood of middle ear inflammation, with an accumulation of a thick, mucous-like fluid; usually associated with a viral or bacterial respiratory infection MP:0000050 MPheno.ontology MP:0001850 increased susceptibility to otitis media MP:0001850 greater likelihood of middle ear inflammation, with an accumulation of a thick, mucous-like fluid; usually associated with a viral or bacterial respiratory infection ISBN:0-683-40008-8 PMID:10716451 local accumulation of fluid, plasma proteins, and leukocytes in the eye MPheno.ontology MP:0001851 eye inflammation MP:0001851 local accumulation of fluid, plasma proteins, and leukocytes in the eye ISBN:0-8153-1691-7 MGI:cwg inflammation of the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball MP:0001311 MPheno.ontology MP:0001852 conjunctivitis MP:0001852 inflammation of the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball ISBN:0-683-40008-8 PMID:10716451 local accumulation of fluid, plasma proteins, and leukocytes in the heart cardiac inflammation carditis MPheno.ontology MP:0001853 heart inflammation MP:0001853 local accumulation of fluid, plasma proteins, and leukocytes in the heart ISBN:0-8153-1691-7 MGI:cwg inflammation affecting the atrial chambers of the heart MPheno.ontology MP:0001854 atrial endocarditis MP:0001854 inflammation affecting the atrial chambers of the heart MGI:cwg any anomaly in the formation or presence of one or more thrombi in the atria of the heart abnormal cardiac atrial thrombosis abnormal heart atrial thrombosis abnormal heart atrium thrombosis MPheno.ontology MP:0001855 abnormal atrial thrombosis MP:0001855 any anomaly in the formation or presence of one or more thrombi in the atria of the heart MGI:cwg inflammation of the heart walls MPheno.ontology MP:0001856 myocarditis MP:0001856 inflammation of the heart walls MESH:C14.280.238.625 MGI:cwg inflammation of the pericardium, the fibroserous sac surrounding the heart and the roots of the great vessels MPheno.ontology MP:0001857 pericarditis MP:0001857 inflammation of the pericardium, the fibroserous sac surrounding the heart and the roots of the great vessels MESH:C14.280.720 MGI:cwg local accumulation of fluid, plasma proteins, and leukocytes in the intestine g.i. inflammation gastrointestinal inflammation inflammation of intestine MPheno.ontology MP:0001858 intestinal inflammation MP:0001858 local accumulation of fluid, plasma proteins, and leukocytes in the intestine ISBN:0-8153-1691-7 MGI:cwg local accumulation of fluid, plasma proteins, and leukocytes in the kidney nephritis renal inflammation MPheno.ontology MP:0001859 kidney inflammation MP:0001859 local accumulation of fluid, plasma proteins, and leukocytes in the kidney ISBN:0-8153-1691-7 MGI:cwg local accumulation of fluid, plasma proteins, and leukocytes in the liver hepatic inflammation hepatitis MPheno.ontology MP:0001860 liver inflammation MP:0001860 local accumulation of fluid, plasma proteins, and leukocytes in the liver ISBN:0-8153-1691-7 MGI:cwg local accumulation of fluid, plasma proteins, and leukocytes in the lung pneumonia pulmonary inflammation MPheno.ontology MP:0001861 lung inflammation MP:0001861 local accumulation of fluid, plasma proteins, and leukocytes in the lung ISBN:0-8153-1691-7 MGI:cwg any of a group of inflammatory and fibrotic disorders of the lower respiratory tract, primarily affecting the supporting framework of the lung, including the alveolar wall, but may also involve the small airways and blood vessels of the lung parenchyma interstitial pneumonitis MPheno.ontology MP:0001862 interstitial pneumonia MP:0001862 any of a group of inflammatory and fibrotic disorders of the lower respiratory tract, primarily affecting the supporting framework of the lung, including the alveolar wall, but may also involve the small airways and blood vessels of the lung parenchyma ISBN:0-683-40008-8 local accumulation of fluid, plasma proteins, and leukocytes in a blood vessel MPheno.ontology angiitis vasculitis MP:0001863 blood vessel inflammation MP:0001863 local accumulation of fluid, plasma proteins, and leukocytes in a blood vessel ISBN:0-8153-1691-7 MGI:cwg inflammation of any blood and/or lymphatic vessel vessel inflammation MPheno.ontology MP:0001864 vascular inflammation MP:0001864 inflammation of any blood and/or lymphatic vessel ISBN:0-683-40008-8 MGI:cwg true MP:0001865 local accumulation of fluid, plasma proteins, and leukocytes in the proximal portion of the respiratory passages MPheno.ontology MP:0001866 nasal inflammation MP:0001866 local accumulation of fluid, plasma proteins, and leukocytes in the proximal portion of the respiratory passages ISBN:0-8153-1691-7 MGI:cwg inflammation of the mucous membrane of the nose MP:0001113 nasal catarrh MPheno.ontology MP:0001867 rhinitis MP:0001867 inflammation of the mucous membrane of the nose ISBN:0-683-40008-8 MGI:tc PMID:10716451 local accumulation of fluid, plasma proteins, and leukocytes in the ovary oophoritis ovarian inflammation MPheno.ontology MP:0001868 ovary inflammation MP:0001868 local accumulation of fluid, plasma proteins, and leukocytes in the ovary ISBN:0-8153-1691-7 MGI:cwg local accumulation of fluid, plasma proteins, and leukocytes in the pancreas pancreatic inflammation pancreatitis MPheno.ontology MP:0001869 pancreas inflammation MP:0001869 local accumulation of fluid, plasma proteins, and leukocytes in the pancreas ISBN:0-8153-1691-7 MGI:cwg local accumulation of fluid, plasma proteins, and leukocytes in one or more salivary glands MP:0000625 MP:0000626 MP:001871 increased inflammatory response of the salivary glands salivary gland adenitis sialadenitis sialitis sialoadenitis MPheno.ontology MP:0001870 salivary gland inflammation MP:0001870 local accumulation of fluid, plasma proteins, and leukocytes in one or more salivary glands ISBN:0-8153-1691-7 MGI:cwg increase in susceptibility of the hollow cavities in bone (usually but not exclusively those in the skull) to allergens and/or pathogens sinusitis MPheno.ontology MP:0001872 sinus inflammation MP:0001872 increase in susceptibility of the hollow cavities in bone (usually but not exclusively those in the skull) to allergens and/or pathogens MGI:tc PMID:10716451 local accumulation of fluid, plasma proteins, and leukocytes in the stomach gastritis MPheno.ontology MP:0001873 stomach inflammation MP:0001873 local accumulation of fluid, plasma proteins, and leukocytes in the stomach ISBN:0-8153-1691-7 MGI:cwg diffuse hyperplasia of the spinous layer of the skin spinous layer hyperplasia MPheno.ontology MP:0001874 acanthosis MP:0001874 diffuse hyperplasia of the spinous layer of the skin ISBN:0-683-40008-8 MGI:cwg local accumulation of fluid, plasma proteins, and leukocytes in the testis orchitis testicle inflammation testicular inflammation MPheno.ontology MP:0001875 testis inflammation MP:0001875 local accumulation of fluid, plasma proteins, and leukocytes in the testis ISBN:0-8153-1691-7 MGI:cwg less than expected response to injury, infection, or insult reduced inflammatory response MPheno.ontology MP:0001876 decreased inflammatory response MP:0001876 less than expected response to injury, infection, or insult MGI:cwg OBSOLETE. MPheno.ontology MP:0001877 obsolete dysregulated inflammatory response true MP:0001877 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001878 any structural anomaly of any component of the network of vessels that carries lymph around the body MP:0000309 MP:0001638 MP:0001639 lymphatic system abnormalities abnormal lymph vessel morphology lymphatic system dysplasia MPheno.ontology MP:0001879 abnormal lymphatic vessel morphology MP:0001879 any structural anomaly of any component of the network of vessels that carries lymph around the body ISBN:0-683-40008-8 MGI:tc true MP:0001880 any functional anomaly of the compound, alveolar and apocrine milk-secreting gland that lies within the breast mammary gland abnormalities abnormal Brustdruese physiology abnormal Lactiferous gland physiology abnormal Lobe of breast physiology abnormal Lobe of mammary gland physiology abnormal breast physiology abnormal glandula mammaria physiology abnormal lactiferous gland physiology abnormal lobe of breast physiology abnormal lobe of mammary gland physiology abnormal mamma physiology abnormal mammae physiology abnormal mammary gland function MPheno.ontology MP:0001881 abnormal mammary gland physiology MP:0001881 any functional anomaly of the compound, alveolar and apocrine milk-secreting gland that lies within the breast ISBN:0-683-40008-8 atypical production of milk from the mammary gland MP:0001383 lactation abnormalities lactation defects MPheno.ontology MP:0001882 abnormal lactation MP:0001882 atypical production of milk from the mammary gland J:51296 higher than normal incidence of malignant tumors of the mammary gland MP:0002011 MPheno.ontology mammary adenocarcinoma mammary carcinoma mammary gland adenocarcinoma mammary gland carcinoma MP:0001883 increased mammary adenocarcinoma incidence MP:0001883 higher than normal incidence of malignant tumors of the mammary gland https://orcid.org/0000-0003-4606-0597 increase in the number of normal cells in normal arrangement in the mammary gland alveoli, typically resulting in increased size hyperplastic mammary gland alveoli mammary alveolar hyperplasia MPheno.ontology MP:0001884 mammary gland alveolar hyperplasia MP:0001884 increase in the number of normal cells in normal arrangement in the mammary gland alveoli, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the mammary gland ducts, typically resulting in increased size hyperplastic mammary gland ducts MPheno.ontology mammary ductal hyperplasia MP:0001885 mammary gland duct hyperplasia MP:0001885 increase in the number of normal cells in normal arrangement in the mammary gland ducts, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 OBSOLETE. MP:0003633 abnormal nervous system physiology MPheno.ontology MP:0001886 obsolete nervous system physiology abnormalities true MP:0001886 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001887 true MP:0001888 the delay or slower progress of the growth and differentiation of the brain developmental retardation of the brain MPheno.ontology MP:0001889 delayed brain development MP:0001889 the delay or slower progress of the growth and differentiation of the brain J:81818 MGI:il anomaly that occurs when the anterior neuropore of the neural tube fails to close, resulting in the congenital partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp; in affected organisms, the forebrain remains in contact with the amniotic fluid and subsequently degenerates, including the cerebrum (areas responsible for cognition); any remaining brain tissue, such as the brain stem, is often exposed MP:0000915 Fyler:4332 anencephalia MPheno.ontology MP:0001890 anencephaly MP:0001890 anomaly that occurs when the anterior neuropore of the neural tube fails to close, resulting in the congenital partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp; in affected organisms, the forebrain remains in contact with the amniotic fluid and subsequently degenerates, including the cerebrum (areas responsible for cognition); any remaining brain tissue, such as the brain stem, is often exposed https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma MP:0000916 hydrocephalus hydroencephaly MPheno.ontology MP:0001891 hydrocephaly MP:0001891 excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma ISBN:0-683-40008-8 MESH:C10.228.140.602 true MP:0001892 abnormal cerebrospinal fluid absorption where there is no obstruction to fluid flow in the ventricular system MP:0000918 Communicating Hydrocephalus communicating hydrocephaly MPheno.ontology MP:0001893 non-obstructive hydrocephaly MP:0001893 abnormal cerebrospinal fluid absorption where there is no obstruction to fluid flow in the ventricular system ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0001894 OBSOLETE. any anomaly in the activity of the deep lying structure of the cerebrum involved with memory storage MPheno.ontology MP:0001895 obsolete abnormal hippocampus function true MP:0001895 OBSOLETE. any anomaly in the activity of the deep lying structure of the cerebrum involved with memory storage MGI:hdene true MP:0001896 true MP:0001897 change from the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of neurons MP:0001474 abnormal LTD abnormal long term depression MPheno.ontology MP:0001898 abnormal long-term depression MP:0001898 change from the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of neurons ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 lack of the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of CA1 neurons absent LTD absent long term depression MPheno.ontology MP:0001899 absent long-term depression MP:0001899 lack of the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of CA1 neurons ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 decrease or inability of a synapse to change its strength as a result of successive activations MPheno.ontology MP:0001900 impaired synaptic plasticity MP:0001900 decrease or inability of a synapse to change its strength as a result of successive activations ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 absence of a measured amplitude, current density or duration of response to stimulation of NMDA receptors absence of NMDA -mediated synaptic currents: CA1 region MPheno.ontology MP:0001901 absence of NMDA-mediated synaptic currents MP:0001901 absence of a measured amplitude, current density or duration of response to stimulation of NMDA receptors https://orcid.org/0000-0003-3691-0324 reduction in the measured amplitude, current density or duration of response to stimulation of NMDA receptors reduced NMDA -mediated synaptic currents: CA1 region MPheno.ontology MP:0001902 reduced NMDA-mediated synaptic currents MP:0001902 reduction in the measured amplitude, current density or duration of response to stimulation of NMDA receptors https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001903 obsolete reduced NMDA receptor glycine affinity: hippocampus true MP:0001903 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001904 obsolete impaired GABA receptor mediated fast inhibition true MP:0001904 OBSOLETE. https://orcid.org/0000-0003-3691-0324 greater or less than the normal amount of this catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary abnormal dopaminergic levels MPheno.ontology MP:0001905 abnormal dopamine level MP:0001905 greater or less than the normal amount of this catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary MESH:D02.092.211.215.311.342 MGI:cwg greater than the normal amount of dopamine, a catecholamine neurotransmitter and neurohormone that is derived from tyrosine and is the precursor to norepinephrine and epinephrine; it functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary increased dopaminergic levels MPheno.ontology MP:0001906 increased dopamine level MP:0001906 greater than the normal amount of dopamine, a catecholamine neurotransmitter and neurohormone that is derived from tyrosine and is the precursor to norepinephrine and epinephrine; it functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary MESH:D02.092.211.215.311.342 MGI:cwg OBSOLETE. any anomaly in the activity of the portion of the brain in the back of the head between the cerebrum and the pons that controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills MPheno.ontology MP:0001907 obsolete abnormal cerebellar function true MP:0001907 OBSOLETE. any anomaly in the activity of the portion of the brain in the back of the head between the cerebrum and the pons that controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills MGI:cwg any functional anomaly of the area of the parietal lobe that lies posterior to the central sulcus and is concerned with receiving and processing general sensations from the body surface abnormal somatic sensory cortex function abnormal somatic sensory cortex physiology abnormal somatosensory cortex function MPheno.ontology MP:0001908 abnormal somatosensory cortex physiology MP:0001908 any functional anomaly of the area of the parietal lobe that lies posterior to the central sulcus and is concerned with receiving and processing general sensations from the body surface ISBN:0-683-40008-8 MESH:A08.186.211.730.885.287.500.670.675 lower than normal levels of excitatory synaptic current in the barrel cortex MPheno.ontology MP:0001909 reduced NMDA receptor mediated synaptic activity in barrel cortex MP:0001909 lower than normal levels of excitatory synaptic current in the barrel cortex ISBN:0838580343 J:64064 true MP:0001910 anomaly in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord MPheno.ontology MP:0001911 abnormal cerebrospinal fluid production MP:0001911 anomaly in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord ISBN:0-683-40008-8 increase in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord MPheno.ontology MP:0001912 increased cerebrospinal fluid production MP:0001912 increase in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord ISBN:0-683-40008-8 reduction in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord reduced cerebrospinal fluid production MPheno.ontology MP:0001913 decreased cerebrospinal fluid production MP:0001913 reduction in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord ISBN:0-683-40008-8 loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels MP:0001635 bleeding haemorrhage MPheno.ontology MP:0001914 hemorrhage MP:0001914 loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels ISBN:0-683-40008-8 bleeding within the skull, including hemorrhage into the brain and within the cranial epidural, subdural, and subarachnoid spaces intracranial bleeding intracranial haemorrhage MPheno.ontology MP:0001915 intracranial hemorrhage MP:0001915 bleeding within the skull, including hemorrhage into the brain and within the cranial epidural, subdural, and subarachnoid spaces https://orcid.org/0000-0003-3691-0324 bleeding within the cerebrum cerebral haemorrhage cerebral hemorrhage intracerebral bleeding intracerebral haemorrhage MPheno.ontology MP:0001916 intracerebral hemorrhage MP:0001916 bleeding within the cerebrum MGI:cwg bleeding into the brain ventricles intraventricular bleeding intraventricular haemorrhage MPheno.ontology MP:0001917 intraventricular hemorrhage MP:0001917 bleeding into the brain ventricles MGI:cwg true MP:0001918 any functional anomaly of the organs associated with producing offspring reproductive system physiology anomalies MPheno.ontology MP:0001919 abnormal reproductive system physiology MP:0001919 any functional anomaly of the organs associated with producing offspring https://orcid.org/0000-0003-3691-0324 true MP:0001920 diminished physiological ability to produce live offspring MP:0001372 decreased fecundity hypofertile semi-sterile semisterile subfertile subfertility MPheno.ontology MP:0001921 reduced fertility MP:0001921 diminished physiological ability to produce live offspring J:65030 reduced physiological ability of a male organism to produce live offspring male subfertility MPheno.ontology MP:0001922 reduced male fertility MP:0001922 reduced physiological ability of a male organism to produce live offspring ISBN:0-683-40008-8 reduced physiological ability of a female organism to produce live offspring low pregnancy rate MPheno.ontology female subfertility MP:0001923 reduced female fertility MP:0001923 reduced physiological ability of a female organism to produce live offspring ISBN:0-683-40008-8 physiological inability to produce live offspring MP:0001371 infertile sterile sterility MPheno.ontology MP:0001924 This term is independent of any anomalies in mating behavior. Consider using abnormal sexual interaction MP:0002566 when anomalies in mating behavior are observed. infertility MP:0001924 physiological inability to produce live offspring J:47225 physiological inability of a male organism to produce live offspring male infertile male sterile male sterility MPheno.ontology MP:0001925 male infertility MP:0001925 physiological inability of a male organism to produce live offspring ISBN:0-683-40008-8 physiological inability of a female organism to produce live offspring female infertile female sterile female sterility MPheno.ontology MP:0001926 female infertility MP:0001926 physiological inability of a female organism to produce live offspring ISBN:0-683-40008-8 failure of progression or aberrant timing of the regular female reproductive cycle of non-primate placental mammals that is under hormonal control and includes a period of heat (mating receptivity), followed by ovulation and complex changes in the reproductive tract, followed by reabsorption of the endometrium if pregnancy does not occur abnormal estrus cycle abnormal oestrous cycle MPheno.ontology MP:0001927 abnormal estrous cycle MP:0001927 failure of progression or aberrant timing of the regular female reproductive cycle of non-primate placental mammals that is under hormonal control and includes a period of heat (mating receptivity), followed by ovulation and complex changes in the reproductive tract, followed by reabsorption of the endometrium if pregnancy does not occur https://orcid.org/0000-0003-3691-0324 aberration in the release of an ovum from a rupturing Graafian follicle, normally regulated by a surge in luteinizing hormone MPheno.ontology MP:0001928 abnormal ovulation MP:0001928 aberration in the release of an ovum from a rupturing Graafian follicle, normally regulated by a surge in luteinizing hormone MGI:cwg defective formation or differentiation of germ cells MPheno.ontology MP:0001929 abnormal gametogenesis MP:0001929 defective formation or differentiation of germ cells ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 anomaly in the process of nuclear division that results in gametes with one half the normal number of the original cell MPheno.ontology MP:0001930 abnormal meiosis MP:0001930 anomaly in the process of nuclear division that results in gametes with one half the normal number of the original cell https://orcid.org/0000-0003-3691-0324 atypical formation or failure to form the female germ cells MPheno.ontology MP:0001931 abnormal oogenesis MP:0001931 atypical formation or failure to form the female germ cells ISBN:0-683-40008-8 J:35782 anomaly in the process by which a spermatid transforms into a functional spermatozoon abnormal spermatid cell development abnormal spermatid development MPheno.ontology MP:0001932 abnormal spermiogenesis MP:0001932 anomaly in the process by which a spermatid transforms into a functional spermatozoon ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 abnormal spermatid cell development GO:0007286 abnormal spermatid development GO:0007286 deviation from the normal number of live born pups in a litter MPheno.ontology MP:0001933 abnormal litter size MP:0001933 deviation from the normal number of live born pups in a litter MGI:cwg greater numbers of live born pups in a litter compared to average MP:0002290 large litter size MPheno.ontology MP:0001934 increased litter size MP:0001934 greater numbers of live born pups in a litter compared to average https://orcid.org/0000-0003-3691-0324 fewer live born pups in a litter compared to average MP:0002289 small litter size MPheno.ontology reduced litter size MP:0001935 decreased litter size MP:0001935 fewer live born pups in a litter compared to average https://orcid.org/0000-0003-3691-0324 true MP:0001936 a delay or a block in the development of the sexual organs at a given age MPheno.ontology MP:0001937 abnormal sexual maturation MP:0001937 a delay or a block in the development of the sexual organs at a given age https://orcid.org/0000-0003-3691-0324 immaturity of the sexual organs at a given age delayed onset of sexual maturity delayed sexual maturity MPheno.ontology MP:0001938 delayed sexual maturation MP:0001938 immaturity of the sexual organs at a given age J:61190 secondary sexual phenotype is not consistent with the chromosomal sex, i.e., internal and/or external genitalia are inconsistent with chromosomal sex MPheno.ontology MP:0001939 secondary sex reversal MP:0001939 secondary sexual phenotype is not consistent with the chromosomal sex, i.e., internal and/or external genitalia are inconsistent with chromosomal sex MGI:llw2 decrease in the number of normal cells in normal arrangement in the testis, typically resulting in decreased size hypoplastic testes testes hypoplasia testicle hypoplasia testicular hypoplasia MPheno.ontology MP:0001940 testis hypoplasia MP:0001940 decrease in the number of normal cells in normal arrangement in the testis, typically resulting in decreased size ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0001941 anomaly in the amount of air that the lungs contain at various points of the respiratory cycle abnormal lung volume measurements MPheno.ontology abnormal lung capacity MP:0001942 abnormal lung volume MP:0001942 anomaly in the amount of air that the lungs contain at various points of the respiratory cycle MESH:E01.370.386.700.485 MGI:cwg anomaly in the movement of gases into and out of the lung Fyler:4200 respiratory anomaly MPheno.ontology MP:0001943 abnormal respiration MP:0001943 anomaly in the movement of gases into and out of the lung ISBN:0-683-40008-8 MGI:cwg any structural anomaly of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream pancreas dysplasia pancreatic dysplasia MPheno.ontology MP:0001944 abnormal pancreas morphology MP:0001944 any structural anomaly of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream ISBN:0-683-40008-8 MGI:il reduction in the caliber of the bronchus or bronchi MPheno.ontology MP:0001945 bronchoconstriction MP:0001945 reduction in the caliber of the bronchus or bronchi ISBN:0-683-40008-8 MGI:cwg true MP:0001946 anomaly in the mechanism that removes mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands abnormal lung clearance abnormal mucociliary transport abnormal lung bacterial clearance MPheno.ontology MP:0001947 abnormal mucociliary clearance MP:0001947 anomaly in the mechanism that removes mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands MESH:E01.370.386.520 https://orcid.org/0000-0003-0431-8641 https://orcid.org/0000-0003-3691-0324 the retrograde flow of urine from the bladder into the ureters and kidneys Fyler:4510 VUR VUX ureteral reflux vesicoureteric reflux MPheno.ontology MP:0001948 vesicoureteral reflux MP:0001948 the retrograde flow of urine from the bladder into the ureters and kidneys https://orcid.org/0000-0002-0371-1954 OBSOLETE. anomaly in the section of the respiratory tract that does not exchange oxygen and carbon dioxide with pulmonary capillary blood MPheno.ontology MP:0001949 obsolete abnormal respiratory dead space true MP:0001949 OBSOLETE. anomaly in the section of the respiratory tract that does not exchange oxygen and carbon dioxide with pulmonary capillary blood MESH:G09.772.765.760 MGI:cwg any anomaly in the noises heard over any part of the respiratory tract MPheno.ontology MP:0001950 abnormal respiratory sounds MP:0001950 any anomaly in the noises heard over any part of the respiratory tract MESH:C23.888.852.779 irregular or atypical breathing pattern, or absence of breathing MP:0001955 irregular breathing MPheno.ontology MP:0001951 abnormal breathing pattern MP:0001951 irregular or atypical breathing pattern, or absence of breathing ISBN:0-683-40008-8 PMID:7914451 more easily provoked into bronchoconstriction in bronchial provocation tests airway hyperresponsiveness MPheno.ontology MP:0001952 increased airway responsiveness MP:0001952 more easily provoked into bronchoconstriction in bronchial provocation tests MGI:cwg cessation of or failure to commence breathing MPheno.ontology MP:0001953 respiratory failure MP:0001953 cessation of or failure to commence breathing https://orcid.org/0000-0003-3691-0324 physical difficulty or impaired ability to breathe; signs include: shortness of breath, labored breathing, gasping, increased work of breathing, inadequate respiratory effort, and/or irregular breathing MP:0002317 dyspnea dyspnoea gasping labored breathing laboured breathing shortness of breath MPheno.ontology MP:0001954 respiratory distress MP:0001954 physical difficulty or impaired ability to breathe; signs include: shortness of breath, labored breathing, gasping, increased work of breathing, inadequate respiratory effort, and/or irregular breathing ISBN:0-683-40008-8 MESH:C08.618.326 PMID:10357937 https://www.timeofcare.com/respiratory-distress-failure-arrest/ true MP:0001955 breathing that is shallower and/or slower than normal hypopnoea MPheno.ontology MP:0001956 hypopnea MP:0001956 breathing that is shallower and/or slower than normal ISBN:0-683-40008-8 J:64289 temporary cessation of breathing; sometimes episodic apnoea MPheno.ontology MP:0001957 apnea MP:0001957 temporary cessation of breathing; sometimes episodic ISBN:0-683-40008-8 MESH:C08.618.085 an abnormal condition of the lung characterized by permanent enlargement of airspaces distal to the terminal bronchioles, accompanied by destruction of their walls and without obvious fibrosis; results in decreased respiratory function including increased air retention and reduced exchange of gases MPheno.ontology MP:0001958 emphysema MP:0001958 an abnormal condition of the lung characterized by permanent enlargement of airspaces distal to the terminal bronchioles, accompanied by destruction of their walls and without obvious fibrosis; results in decreased respiratory function including increased air retention and reduced exchange of gases ISBN:0-683-40008-8 OBSOLETE. GO:0007600 abnormal sensory system physiology/response MPheno.ontology MP:0001959 obsolete sensory system physiology/response abnormalities true MP:0001959 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001960 anomaly in an involuntary response to a peripheral stimulus MP:0001476 MPheno.ontology MP:0001961 abnormal reflex MP:0001961 anomaly in an involuntary response to a peripheral stimulus ISBN:0-683-40008-8 true MP:0001962 any functional anomaly in the ability to perceive auditory stimuli MP:0001960 MP:0002104 auditory abnormalities GO:0007605 MGI:2173555 abnormal auditory perception abnormal auditory physiology ears: auditory defects/deafness MPheno.ontology MP:0001963 abnormal hearing physiology MP:0001963 any functional anomaly in the ability to perceive auditory stimuli ISBN:0-683-40008-8 OBSOLETE. change in the average point at which one may first detect electrical activity generated by neurons in the ascending auditory system by using computer-averaged responses to short tone bursts at varying frequency MP:0006335 GO:0007605 MPheno.ontology MP:0001964 obsolete abnormal auditory threshold true MP:0001964 OBSOLETE. change in the average point at which one may first detect electrical activity generated by neurons in the ascending auditory system by using computer-averaged responses to short tone bursts at varying frequency https://orcid.org/0000-0002-0371-1954 OBSOLETE. a greater than average point at which one may first detect electrical activity generated by neurons in the ascending auditory system by using computer-averaged responses to short tone bursts at varying frequency MP:0006335 hearing disability hearing impairment MPheno.ontology MP:0001965 obsolete increased auditory threshold true MP:0001965 OBSOLETE. a greater than average point at which one may first detect electrical activity generated by neurons in the ascending auditory system by using computer-averaged responses to short tone bursts at varying frequency https://orcid.org/0000-0002-0371-1954 OBSOLETE. a lower than average point at which one may first detect electrical activity generated by neurons in the ascending auditory system by using computer-averaged responses to short tone bursts at varying frequency MP:0006335 hypersensitive hearing MPheno.ontology MP:0001966 obsolete decreased auditory threshold true MP:0001966 OBSOLETE. a lower than average point at which one may first detect electrical activity generated by neurons in the ascending auditory system by using computer-averaged responses to short tone bursts at varying frequency https://orcid.org/0000-0002-0371-1954 inability to hear; the ability to detect and/or recognize certain frequencies of sound is completely impaired Fyler:4868 GO:0007605 complete hearing loss impaired perception of sound impaired sensory perception of sound MPheno.ontology MP:0001967 deafness MP:0001967 inability to hear; the ability to detect and/or recognize certain frequencies of sound is completely impaired ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 change in the ability to sense contact with objects or in the ability to sense pain, most often registered by mechanoreceptors in the skin and mucous membranes touch/ nociception abnormalities touch/ nociception defects MPheno.ontology MP:0001968 abnormal touch/ nociception MP:0001968 change in the ability to sense contact with objects or in the ability to sense pain, most often registered by mechanoreceptors in the skin and mucous membranes MGI:cwg true MP:0001969 increased or decreased average level of perception of pain MPheno.ontology MP:0001970 abnormal pain threshold MP:0001970 increased or decreased average level of perception of pain J:17792 true MP:0001971 true MP:0001972 a greater than average point at which thermal pain sensation is first detectable decreased thermal nociception prolonged latency in hot plate test thermal hypoalgesia MPheno.ontology MP:0001973 increased thermal nociceptive threshold MP:0001973 a greater than average point at which thermal pain sensation is first detectable ISBN:0-471-31639-3 OBSOLETE. MPheno.ontology MP:0001974 obsolete toe pinch true MP:0001974 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001975 obsolete tail pinch true MP:0001975 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001976 OBSOLETE. MPheno.ontology MP:0001977 obsolete tail flick true MP:0001977 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001978 obsolete prolonged latency in tail flick test true MP:0001978 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001979 change in the analgesic effect of chemical substances abnormal chemically-elicited analgesia MPheno.ontology MP:0001980 abnormal chemically-elicited antinociception MP:0001980 change in the analgesic effect of chemical substances MGI:cwg greater than the normal analgesic effect of chemical substances enhanced chemically-elicited antinociception enhanced chemically-induced analgesia MPheno.ontology MP:0001981 increased chemically-elicited antinociception MP:0001981 greater than the normal analgesic effect of chemical substances MGI:cwg less than the normal analgesic effect of chemical substances reduced chemically-elicited antinociception reduced chemically-induced analgesia MPheno.ontology MP:0001982 decreased chemically-elicited antinociception MP:0001982 less than the normal analgesic effect of chemical substances MGI:cwg any functional anomaly of the system relating to smell MP:0001110 MP:0001111 olfactory abnormalities olfactory defects olfactory system abnormalities abnormal olfactory system function MPheno.ontology MP:0001983 abnormal olfactory system physiology MP:0001983 any functional anomaly of the system relating to smell MGI:cwg anomaly in the ability to smell MPheno.ontology MP:0001984 abnormal olfaction MP:0001984 anomaly in the ability to smell ISBN:0-683-40008-8 any functional anomaly in the perception of taste abnormal taste physiology abnormal taste response MPheno.ontology MP:0001985 abnormal gustatory system physiology MP:0001985 any functional anomaly in the perception of taste ISBN:0-683-40008-8 changes in the ability to perceive a particular flavor(s) or suggestion of something imparting a flavor by the chemoreceptors of the gustatory system MPheno.ontology MP:0001986 abnormal taste sensitivity MP:0001986 changes in the ability to perceive a particular flavor(s) or suggestion of something imparting a flavor by the chemoreceptors of the gustatory system https://orcid.org/0000-0003-3691-0324 predilection to ingest alcohol over other substances ethanol preference MPheno.ontology MP:0001987 alcohol preference MP:0001987 predilection to ingest alcohol over other substances https://orcid.org/0000-0003-3691-0324 predilection to ingest cocaine over other substances MPheno.ontology MP:0001988 cocaine preference MP:0001988 predilection to ingest cocaine over other substances https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001989 obsolete saccharin versus water true MP:0001989 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0001990 obsolete water versus saccharin true MP:0001990 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0001991 true MP:0001992 anomaly in the normal reflex of closing the eyes frequently and rapidly MP:0001478 blinking abnormalities MPheno.ontology MP:0001993 abnormal blinking MP:0001993 anomaly in the normal reflex of closing the eyes frequently and rapidly https://orcid.org/0000-0003-4606-0597 greater number of occurrences of the normal reflex of closing the eyes frequently and rapidly MP:0001479 increased blinking MPheno.ontology MP:0001994 increased blinking frequency MP:0001994 greater number of occurrences of the normal reflex of closing the eyes frequently and rapidly https://orcid.org/0000-0003-3691-0324 reduced number of occurrences of the normal reflex of closing the eyes frequently and rapidly MP:0001480 decreased blinking MPheno.ontology reduced blinking frequency MP:0001995 decreased blinking frequency MP:0001995 reduced number of occurrences of the normal reflex of closing the eyes frequently and rapidly https://orcid.org/0000-0003-3691-0324 true MP:0001996 OBSOLETE. MP:0002638 MPheno.ontology MP:0001997 obsolete Increased Pupil Constriction true MP:0001997 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MP:0002638 MPheno.ontology MP:0001998 obsolete Decreased Pupil Constriction true MP:0001998 OBSOLETE. https://orcid.org/0000-0003-3691-0324 alterations in the response to sunlight or UV irradiation, especially sensitivity of the eyes MP:0001484 photosensitivity abnormalities MPheno.ontology MP:0001999 photosensitivity MP:0001999 alterations in the response to sunlight or UV irradiation, especially sensitivity of the eyes ISBN:0-683-40008-8 MGI:cwg true MP:0002000 loss of the sense of sight Fyler:4866 MPheno.ontology MP:0002001 blindness MP:0002001 loss of the sense of sight ISBN:0-683-40008-8 OBSOLETE. MPheno.ontology MP:0002002 obsolete abnormal response to visual cliff true MP:0002002 OBSOLETE. https://orcid.org/0000-0003-3691-0324 decreased diameter of one or both pupils due to abnormal constriction of the muscles of the iris MP:0001481 MP:0001996 abnormal pupil constriction constricted pupils miotic pupils myotic pupils pupillary constriction pupillary miosis pinpoint pupils MPheno.ontology meiotic pupils MP:0002003 miotic pupil MP:0002003 decreased diameter of one or both pupils due to abnormal constriction of the muscles of the iris J:17194 true MP:0002004 the observable morphological and physiological characteristics of a benign or malignant tissue growth resulting from uncontrolled cell proliferation in a mammalian organism that are manifested through development and lifespan tumorigenesis tumourigenesis MPheno.ontology MP:0002006 neoplasm MP:0002006 the observable morphological and physiological characteristics of a benign or malignant tissue growth resulting from uncontrolled cell proliferation in a mammalian organism that are manifested through development and lifespan URL:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3262 https://orcid.org/0000-0003-4606-0597 increased incidence of cell death following exposure to gamma-irradiation decreased cellular resistance to gamma-irradiation increased cellular susceptibility to gamma-irradiation MPheno.ontology MP:0002007 increased cellular sensitivity to gamma-irradiation MP:0002007 increased incidence of cell death following exposure to gamma-irradiation https://orcid.org/0000-0003-4606-0597 true MP:0002008 state preceding the pathological process resulting in a neoplasm; does not necessarily imply cancerous development MPheno.ontology MP:0002009 preneoplasia MP:0002009 state preceding the pathological process resulting in a neoplasm; does not necessarily imply cancerous development J:47225 OBSOLETE. MPheno.ontology MP:0002010 obsolete hepatic microgranulomas true MP:0002010 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0002011 greater than the expected number of dome-shaped hamartoma tumors which contain multiple abortive and/or misaligned hair follicles MPheno.ontology MP:0002012 increased trichofolliculoma incidence MP:0002012 greater than the expected number of dome-shaped hamartoma tumors which contain multiple abortive and/or misaligned hair follicles PMID:23409475 greater than the expected number of neoplasms that arise from hair matrix cells occurring in a specific population in a given time period; pilomatricoma is an encapsulated tumor containing irregularly shaped, lobules of cells separated by fibrovascular connective tissue stroma; two distinct cell populations comprise this tumor, basaloid cells with scant cytoplasm located towards the periphery and the ghost (or shadow) cells occupying the central portion MPheno.ontology calcifying epithelioma calcifying epithelioma of Malherbe epithelioma of Malherbe pilomatrixoma trichomatricoma MP:0002013 increased pilomatricoma incidence MP:0002013 greater than the expected number of neoplasms that arise from hair matrix cells occurring in a specific population in a given time period; pilomatricoma is an encapsulated tumor containing irregularly shaped, lobules of cells separated by fibrovascular connective tissue stroma; two distinct cell populations comprise this tumor, basaloid cells with scant cytoplasm located towards the periphery and the ghost (or shadow) cells occupying the central portion http://atlasgeneticsoncology.org/Tumors/PilomatricomaID5153.html https://orcid.org/0000-0003-3691-0324 greater than the expected number of benign tumors consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic epithelial cells occurring in a specific population in a given time period MPheno.ontology MP:0002014 increased papilloma incidence MP:0002014 greater than the expected number of benign tumors consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic epithelial cells occurring in a specific population in a given time period MPATH:445 presence of one or more abnormal membranous sacs in an epithelium epithelial cyst epithelial cysts epithelioid cysts MPheno.ontology MP:0002015 epithelioid cyst MP:0002015 presence of one or more abnormal membranous sacs in an epithelium J:51296 presence of one or more fluid-filled membranous sacs within the ovary cystic ovaries cystic ovary ovarian cyst ovarian cysts ovary cysts MPheno.ontology MP:0002016 ovary cyst MP:0002016 presence of one or more fluid-filled membranous sacs within the ovary ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0002017 higher than normal incidence of locally invasive, destructive and metastatic tumors increased malignant tumour incidence MPheno.ontology malignant tumors malignant tumours MP:0002018 increased malignant tumor incidence MP:0002018 higher than normal incidence of locally invasive, destructive and metastatic tumors ISBN:0-683-40008-8 deviation from the expected number of abnormal growths in a specific population abnormal tumour incidence MPheno.ontology MP:0002019 abnormal tumor incidence MP:0002019 deviation from the expected number of abnormal growths in a specific population MGI:cwg greater than the expected number of neoplasms in a specific population in a given time period, usually of a specific type MP:0002017 increased neoplasm incidence increased tumour incidence spontaneous tumor MPheno.ontology MP:0002020 increased tumor incidence MP:0002020 greater than the expected number of neoplasms in a specific population in a given time period, usually of a specific type MESH:E05.318.308.985.525.375 https://orcid.org/0000-0003-3691-0324 higher than normal frequency of tumor incidence induced by a carcinogen, mutagen or virus increased incidence of induced tumours MPheno.ontology MP:0002021 increased incidence of induced tumors MP:0002021 higher than normal frequency of tumor incidence induced by a carcinogen, mutagen or virus https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0003-3691-0324 true MP:0002022 higher than normal incidence of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes MPheno.ontology B cell derived lymphoma B-cell derived lymphoma MP:0002023 increased B cell derived lymphoma incidence MP:0002023 higher than normal incidence of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes MESH:C04.557.386.480.150 higher than normal incidence of a group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes MP:0003832 MP:0005234 MPheno.ontology T cell derived lymphoma T-cell derived lymphoma thymic lymphoma thymic tumor thymic tumour thymus tumor thymus tumour MP:0002024 increased T cell derived lymphoma incidence MP:0002024 higher than normal incidence of a group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes MESH:C04.557.386.480.750 OBSOLETE. group of heterogeneous lymphoid tumors representing malignant transformations of both B-lymphocytes and T-lymphocytes B-cell/T-cell derived lymphoma MPheno.ontology MP:0002025 obsolete B cell/T cell derived lymphoma true MP:0002025 OBSOLETE. group of heterogeneous lymphoid tumors representing malignant transformations of both B-lymphocytes and T-lymphocytes https://orcid.org/0000-0003-3691-0324 higher than normal incidence of a cancer characterized by progressive proliferation of abnormal leukocytes in hematopoietic tissues, organs and blood increased leucaemia incidence increased leukaemia incidence MPheno.ontology leucaemia leukaemia leukemia MP:0002026 increased leukemia incidence MP:0002026 higher than normal incidence of a cancer characterized by progressive proliferation of abnormal leukocytes in hematopoietic tissues, organs and blood DOID:1240 ISBN:0-683-40008-8 greater than the expected number of a malignant neoplasm of epithelial cells in the lung, usually with a glandular organization, occurring in a specific population in a given time period MPheno.ontology lung adenocarcinoma MP:0002027 increased lung adenocarcinoma incidence MP:0002027 greater than the expected number of a malignant neoplasm of epithelial cells in the lung, usually with a glandular organization, occurring in a specific population in a given time period ISBN:0-683-40008-8 true MP:0002028 true MP:0002029 greater than the expected number of a highly aggressive malignant neoplasm arising from the fibrous connective tissue surrounding peripheral nerves, in a specific population in a given time period MP:0002034 increased fibroblastic neurosarcoma incidence MPheno.ontology MPNSTs malignant neurolemmoma malignant peripheral nerve sheath tumors malignant peripheral nerve sheath tumours peripheral nerve sheath tumor peripheral nerve sheath tumour MP:0002030 increased neurofibrosarcoma incidence MP:0002030 greater than the expected number of a highly aggressive malignant neoplasm arising from the fibrous connective tissue surrounding peripheral nerves, in a specific population in a given time period ISBN:0-683-40008-8 greater than the expected number of neoplams in the adrenal gland occurring in a specific population in a given time period increased adrenal gland tumour incidence MPheno.ontology MP:0002031 increased adrenal gland tumor incidence MP:0002031 greater than the expected number of neoplams in the adrenal gland occurring in a specific population in a given time period ISBN:0-683-40008-8 greater than the expected number of a connective tissue neoplasm associated with the proliferation of embryonically-derived mesodermal cells, occurring in a specific population in a given time period MPheno.ontology sarcoma MP:0002032 increased sarcoma incidence MP:0002032 greater than the expected number of a connective tissue neoplasm associated with the proliferation of embryonically-derived mesodermal cells, occurring in a specific population in a given time period DOID:1115 ISBN:0-683-40008-8 greater than the expected number of a malignant tumor with neurogenic and myogenic differentiation, occurring in a specific population in a given time period; usually arises in tissues of neural crest origin increased malignant triton tumour incidence MPheno.ontology MTTs malignant triton tumors malignant triton tumours MP:0002033 increased malignant triton tumor incidence MP:0002033 greater than the expected number of a malignant tumor with neurogenic and myogenic differentiation, occurring in a specific population in a given time period; usually arises in tissues of neural crest origin ISBN:0-683-40008-8 true MP:0002034 greater than the expected number of a malignant tumor derived from smooth (nonstriated) muscle, occurring in a specific population in a given time period MPheno.ontology leiomyosarcoma MP:0002035 increased leiomyosarcoma incidence MP:0002035 greater than the expected number of a malignant tumor derived from smooth (nonstriated) muscle, occurring in a specific population in a given time period ISBN:0-683-40008-8 greater than the expected number of a malignant tumor derived from skeletal (striated) muscle, occurring in a specific population in a given time period MPheno.ontology rhabdomyosarcoma MP:0002036 increased rhabdomyosarcoma incidence MP:0002036 greater than the expected number of a malignant tumor derived from skeletal (striated) muscle, occurring in a specific population in a given time period ISBN:0-683-40008-8 greater than the expected number of slowly growing skin nodules derived from cellular fibrous tissue occurring in a specific population in a given time period; these often surround capillaries MPheno.ontology dermatofibroma MP:0002037 increased fibrohistocytoma incidence MP:0002037 greater than the expected number of slowly growing skin nodules derived from cellular fibrous tissue occurring in a specific population in a given time period; these often surround capillaries ISBN:0-683-40008-8 greater than the expected number of any of a variety of malignant neoplasms arising from epithelial cells, occurring in a specific population in a given time period; carcinomas are usually glandular or squamous in origin MPheno.ontology carcinoma MP:0002038 increased carcinoma incidence MP:0002038 greater than the expected number of any of a variety of malignant neoplasms arising from epithelial cells, occurring in a specific population in a given time period; carcinomas are usually glandular or squamous in origin ISBN:0-683-40008-8 greater than the expected number of a malignant neoplasm characterized by immature nerve cells of embryonic type, occurring in a specific population in a given time period MPheno.ontology neuroblastoma MP:0002039 increased neuroblastoma incidence MP:0002039 greater than the expected number of a malignant neoplasm characterized by immature nerve cells of embryonic type, occurring in a specific population in a given time period ISBN:0-683-40008-8 true MP:0002040 greater than the expected number of benign neoplasms of the pituitary, occurring in a specific population in a given time period MPheno.ontology MP:0002041 increased pituitary adenoma incidence MP:0002041 greater than the expected number of benign neoplasms of the pituitary, occurring in a specific population in a given time period ISBN:0-683-40008-8 OBSOLETE. MPheno.ontology MP:0002042 obsolete hemotologic neoplasia true MP:0002042 OBSOLETE. https://orcid.org/0000-0003-3691-0324 greater than the expected number of benign focal malformations in the colon in a specific population in a given time period; results from faulty colonic development, and is composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element normally present at that site increased colonic hamartoma incidence MPheno.ontology colon hamartoma colonic hamartoma MP:0002043 increased colon hamartoma incidence MP:0002043 greater than the expected number of benign focal malformations in the colon in a specific population in a given time period; results from faulty colonic development, and is composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element normally present at that site https://orcid.org/0000-0003-3691-0324 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the colon, occurring in a specific population in a given time period increased colonic adenoma incidence increased colonic adenomata incidence MPheno.ontology MP:0002044 increased colon adenoma incidence MP:0002044 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the colon, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of a benign epithelial neoplasm with a glandular organization and a cyst-like appearance arising in the kidney, occurring in a specific population in a given time period increased kidney cystadenoma incidence increased kidney cystoma incidence increased renal cystoma incidence MPheno.ontology MP:0002045 increased renal cystadenoma incidence MP:0002045 greater than the expected number of a benign epithelial neoplasm with a glandular organization and a cyst-like appearance arising in the kidney, occurring in a specific population in a given time period ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0002046 greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells in the liver, occurring in a specific population in a given time period increased hepatic haemangioma incidence MPheno.ontology hepatic haemangioma hepatic hemangioma liver angioma MP:0002047 increased hepatic hemangioma incidence MP:0002047 greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells in the liver, occurring in a specific population in a given time period ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the lung, occurring in a specific population in a given time period MPheno.ontology MP:0002048 increased lung adenoma incidence MP:0002048 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the lung, occurring in a specific population in a given time period ISBN:0-683-40008-8 higher than normal incidence of malignant neoplasm of soft tissues; thought to arise from endothelial cells of blood vessels MPheno.ontology extremity angiosarcoma MP:0002049 increased extremity angiosarcoma incidence MP:0002049 higher than normal incidence of malignant neoplasm of soft tissues; thought to arise from endothelial cells of blood vessels ISBN:0-683-40008-8 greater than the expected number of a benign neoplasm derived from adrenal medullary cells, occurring in a specific population in a given time period; usually associated with hypertension increased phaeochromocytoma incidence MPheno.ontology phaeochromocytoma pheochromocytoma MP:0002050 increased pheochromocytoma incidence MP:0002050 greater than the expected number of a benign neoplasm derived from adrenal medullary cells, occurring in a specific population in a given time period; usually associated with hypertension ISBN:0-683-40008-8 greater than the expected number of a circumscribed, benign epithelial tumor projecting from the surrounding surface, occurring in a specific population in a given time period MPheno.ontology skin papilloma MP:0002051 increased skin papilloma incidence MP:0002051 greater than the expected number of a circumscribed, benign epithelial tumor projecting from the surrounding surface, occurring in a specific population in a given time period ISBN:0-683-40008-8 less than the expected number of neoplasms in a specific population in a given time period MP:0005514 decreased neoplasm incidence decreased tumour incidence increased resistance to neoplasm development increased resistance to tumor development increased resistance to tumour development reduced tumor incidence reduced tumour incidence MPheno.ontology decreased susceptibility to neoplasm development decreased susceptibility to tumor development decreased susceptibility to tumour development MP:0002052 decreased tumor incidence MP:0002052 less than the expected number of neoplasms in a specific population in a given time period MESH:E05.318.308.985.525.375 MGI:cwg reduced frequency of tumor incidence induced by a carcinogen, mutagen or virus decreased incidence of induced tumours reduced incidence of induced tumors reduced incidence of induced tumours MPheno.ontology MP:0002053 decreased incidence of induced tumors MP:0002053 reduced frequency of tumor incidence induced by a carcinogen, mutagen or virus https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002054 obsolete disease states true MP:0002054 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. either insipidus or mellitus. Having in common the symptoms of polyuria MPheno.ontology MP:0002055 This is really a disease term; see OMIM for numerous types of this disease. obsolete Diabetes true MP:0002055 OBSOLETE. either insipidus or mellitus. Having in common the symptoms of polyuria ISBN:0-683-40008-8 MGI:cml Obsolete. Characterized by polydipsia, polyuria, increased appetite, weight loss, low plasma insulin levels, and episodic ketoacidosis IDDM Juvenile diabetes Type I diabetes MPheno.ontology MP:0002056 This is really a disease term; see OMIM:222100. obsolete Insulin dependent diabetes true MP:0002056 Obsolete. Characterized by polydipsia, polyuria, increased appetite, weight loss, low plasma insulin levels, and episodic ketoacidosis ISBN:0-683-40008-8 MGI:cml OBSOLETE. Type II, adult onset. mild form gradual onset, usually in obese individuals. Plasma insulin levels are normal to high , but low in relation to plasma glucose levels. Responsive to dietary regulation or oral hypoglycemic agents, but diabetic complications and degenerative changes can develop NIDDM Type II, adult onset diabetes MPheno.ontology MP:0002057 This is really a disease term; see OMIM:125853. obsolete Non-insulin dependent diabetes true MP:0002057 OBSOLETE. Type II, adult onset. mild form gradual onset, usually in obese individuals. Plasma insulin levels are normal to high , but low in relation to plasma glucose levels. Responsive to dietary regulation or oral hypoglycemic agents, but diabetic complications and degenerative changes can develop ISBN:0-683-40008-8 MGI:cml death within the neonatal period after birth (Mus: P0) neonatal death MPheno.ontology MP:0002058 neonatal lethality MP:0002058 death within the neonatal period after birth (Mus: P0) ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of either of the paired sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system; each sac is pyramidal in shape and convoluted in appearance and at the anterior extremity becomes constricted into a narrow straight duct that joins the ipsilateral vas deferens to form the ejaculatory duct; seminal vesicles secrete seminal fluid and nourish and promote the movement of spermatozoa through the urethra MP:0000656 abnormal gonecyst morphology abnormal seminal gland morphology abnormal seminal vesicles morphology seminal gland dysplasia seminal vesicle dysplasia MPheno.ontology MP:0002059 abnormal seminal vesicle morphology MP:0002059 any structural anomaly of either of the paired sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system; each sac is pyramidal in shape and convoluted in appearance and at the anterior extremity becomes constricted into a narrow straight duct that joins the ipsilateral vas deferens to form the ejaculatory duct; seminal vesicles secrete seminal fluid and nourish and promote the movement of spermatozoa through the urethra https://orcid.org/0000-0002-6490-7723 any structural anomaly of the membranous protective covering of the body Fyler:4133 abnormal cutis morphology abnormal skin anatomy skin dysplasia MPheno.ontology MP:0002060 abnormal skin morphology MP:0002060 any structural anomaly of the membranous protective covering of the body ISBN:0-683-40008-8 PMID:10469309 domineering, assaultive or forceful physical action MP:0001352 MGI:2173566 abnormal aggression-related behaviour hostility related behavior hostility related behaviour neurological/behavioral: aggression neurological/behavioural: aggression MPheno.ontology MP:0002061 abnormal aggression-related behavior MP:0002061 domineering, assaultive or forceful physical action https://orcid.org/0000-0003-3691-0324 anomaly in the ability to change the frequency or form of a behavior as a result of the influence of the environment MGI:2173567 abnormal conditioning behavior abnormal conditioning behaviour neurological/behavioral: conditioning defect neurological/behavioural: conditioning defect MPheno.ontology MP:0002062 abnormal associative learning MP:0002062 anomaly in the ability to change the frequency or form of a behavior as a result of the influence of the environment https://orcid.org/0000-0003-3691-0324 altered ability to receive, store, process or recall informational stimuli MP:0001449 MGI:2173568 abnormal learning/ memory neurological/behavioral: learning/memory anomalies neurological/behavioral: learning/memory impairment neurological/behavioural: learning/memory anomalies neurological/behavioural: learning/memory impairment MPheno.ontology MP:0002063 abnormal learning/memory/conditioning MP:0002063 altered ability to receive, store, process or recall informational stimuli https://orcid.org/0000-0003-3691-0324 sudden and often acute manifestation of epileptic attack, sometimes convulsive MP:0000946 MP:0001493 neurological/behavioral: seizures/epilepsy neurological/behavioural: seizures/epilepsy seizures/epilepsy MGI:2173569 MPheno.ontology MP:0002064 seizures MP:0002064 sudden and often acute manifestation of epileptic attack, sometimes convulsive https://orcid.org/0000-0003-3691-0324 altered response in tests for fear or anxiety related behaviors MGI:2173570 abnormal fear/anxiety behavior abnormal fear/anxiety behaviour abnormal fear/anxiety-related behaviour neurological/behavioral: fear/anxiety neurological/behavioural: fear/anxiety MPheno.ontology MP:0002065 abnormal fear/anxiety-related behavior MP:0002065 altered response in tests for fear or anxiety related behaviors https://orcid.org/0000-0003-3691-0324 altered ability to coordinate voluntary movement or repetitive, compulsive movements MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies neurological/behavioural: motor capabilities/coordination/movement anomalies MPheno.ontology MP:0002066 abnormal motor capabilities/coordination/movement MP:0002066 altered ability to coordinate voluntary movement or repetitive, compulsive movements https://orcid.org/0000-0003-3691-0324 inability or altered ability to respond to a sensory stimulus MGI:2173572 neurological/behavioral: sensory capabilities/reflexes/nociception abnormalities neurological/behavioural: sensory capabilities/reflexes/nociception abnormalities MPheno.ontology MP:0002067 abnormal sensory capabilities/reflexes/nociception MP:0002067 inability or altered ability to respond to a sensory stimulus https://orcid.org/0000-0003-3691-0324 altered behavior of animals that affects the ability of offspring to survive MGI:2173573 abnormal parental behaviour neurological/behavioral: parental behavior anomalies neurological/behavioural: parental behaviour anomalies MPheno.ontology MP:0002068 abnormal parental behavior MP:0002068 altered behavior of animals that affects the ability of offspring to survive https://orcid.org/0000-0003-3691-0324 altered ability or inability to eat or drink, or unusual choice or avoidance of foods or drink MGI:2173574 abnormal consumption behaviour abnormal eating/drinking behavior abnormal eating/drinking behaviour abnormal feeding/drinking behavior abnormal feeding/drinking behaviour neurological/behavioral: feeding/drinking anomalies neurological/behavioural: feeding/drinking anomalies MPheno.ontology MP:0002069 abnormal consumption behavior MP:0002069 altered ability or inability to eat or drink, or unusual choice or avoidance of foods or drink https://orcid.org/0000-0003-3691-0324 OBSOLETE. deviation from the normal 24 hour biological activity cycle including the wake/sleep cycle MP:0001501 MGI:2173575 neurological/behavioral: sleep pattern/circadian rhythm anomalies MPheno.ontology MP:0002070 obsolete abnormal sleep pattern/circadian rhythm true MP:0002070 OBSOLETE. deviation from the normal 24 hour biological activity cycle including the wake/sleep cycle https://orcid.org/0000-0003-3691-0324 OBSOLETE. abnormal behaviors not attributable to other categories MGI:2173576 neurological/behavioral: other anomalies MPheno.ontology MP:0002071 obsolete other abnormal behavior true MP:0002071 OBSOLETE. abnormal behaviors not attributable to other categories https://orcid.org/0000-0003-3691-0324 OBSOLETE. no anomaly observed in neurological or behavioral tests MGI:2173577 MPheno.ontology MP:0002072 obsolete neurological/behavioral: no defect detected true MP:0002072 OBSOLETE. no anomaly observed in neurological or behavioral tests https://orcid.org/0000-0003-3691-0324 any anomaly in the amount of hair or abnormal onset of hair growth cycle or development, or abnormal hair pattern MP:0000409 MGI:2173539 coat: hair growth defects hair growth abnormalities MPheno.ontology MP:0002073 abnormal hair growth MP:0002073 any anomaly in the amount of hair or abnormal onset of hair growth cycle or development, or abnormal hair pattern MGI:llw2 https://orcid.org/0000-0003-3691-0324 irregular or unusual appearance of the structure of the hair MP:0002077 MGI:2173540 coat: hair texture defects hair texture abnormalities MPheno.ontology MP:0002074 abnormal hair texture MP:0002074 irregular or unusual appearance of the structure of the hair https://orcid.org/0000-0003-3691-0324 irregular or unusual pigmentation of the hair MP:0000368 MGI:2173541 abnormal coat color abnormal coat colour abnormal hair pigmentation coat: color anomalies coat: colour anomalies MPheno.ontology MP:0002075 abnormal coat/hair pigmentation MP:0002075 irregular or unusual pigmentation of the hair https://orcid.org/0000-0003-3691-0324 OBSOLETE. any structural anomaly or misalignment of the epidermis from which the hair shaft develops MP:0000377 MP:0000383 MGI:2173542 coat: hair follicle structure/orientation anomalies MPheno.ontology MP:0002076 obsolete abnormal hair follicle structure/orientation true MP:0002076 OBSOLETE. any structural anomaly or misalignment of the epidermis from which the hair shaft develops https://orcid.org/0000-0003-3691-0324 true MP:0002077 anomaly in the processes involved in the maintenance of an internal equilibrium of glucose in the fluids and tissues MGI:2173579 metabolism: abnormal glucose homeostasis abnormal glucose metabolism MPheno.ontology MP:0002078 abnormal glucose homeostasis MP:0002078 anomaly in the processes involved in the maintenance of an internal equilibrium of glucose in the fluids and tissues https://orcid.org/0000-0003-3691-0324 greater than normal levels of insulin in blood hyperinsulinaemia hyperinsulinemia hyperinsulinism MPheno.ontology MP:0002079 increased circulating insulin level MP:0002079 greater than normal levels of insulin in blood ISBN:0-683-40008-8 death anytime between fertilization and birth (Mus: approximately E18.5) MP:0001645 MP:0001707 MGI:2173525 antenatal lethality survival: prenatal lethality embryonic death embryonic lethality survival: embryonic lethality MPheno.ontology MP:0002080 Note that the name of this term has previously been embryonic lethality. In many species, the terms prenatal lethality and embryonic lethality are used interchangeably. However, this is not technically correct and we have modified this ontology to define the prenatal period to include the embryonic stages distinctly from the fetal stages. The names embryonic lethality and embryonic death have been retained as a narrow synonyms to aid in searching for those species that may use these terms as synonyms. prenatal lethality MP:0002080 death anytime between fertilization and birth (Mus: approximately E18.5) https://orcid.org/0000-0003-3691-0324 death anytime within the perinatal period (Mus: E18.5 through postnatal day 1) MP:0001644 MGI:2173526 perinatal death survival: perinatal lethality MPheno.ontology stillborn MP:0002081 perinatal lethality MP:0002081 death anytime within the perinatal period (Mus: E18.5 through postnatal day 1) https://orcid.org/0000-0003-3691-0324 premature death anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age) MP:0001643 MGI:2173527 juvenile lethality postnatal death survival: postnatal lethality MPheno.ontology MP:0002082 postnatal lethality MP:0002082 premature death anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age) https://orcid.org/0000-0003-3691-0324 death after weaning age, but before the normal life span (Mus: after 3 weeks of age) MP:0001642 MP:0001646 MP:0001662 MGI:2173528 abnormal survival/ lethality reduced life span reduced lifespan short life span shorter life span survival: premature death MPheno.ontology MP:0002083 premature death MP:0002083 death after weaning age, but before the normal life span (Mus: after 3 weeks of age) https://orcid.org/0000-0003-3691-0324 abnormal systematic arrangement of the developing body along an axis MP:0001702 MGI:2173529 embryogenesis: developmental patterning abnormalities MPheno.ontology MP:0002084 abnormal developmental patterning MP:0002084 abnormal systematic arrangement of the developing body along an axis https://orcid.org/0000-0003-3691-0324 any structural anomaly of the embryonic tissue part of the whole embryo MP:0001673 MGI:2173530 embryogenesis: embryonic tissue dysmorphology embryonic tissue dysplasia MPheno.ontology abnormal embryogenesis MP:0002085 abnormal embryonic tissue morphology MP:0002085 any structural anomaly of the embryonic tissue part of the whole embryo https://orcid.org/0000-0003-3691-0324 any structural anomaly of the membranes involved with embryonic protection and nutrition MP:0001708 MP:0001709 MGI:2173531 abnormal extraembryonic tissues morphology embryogenesis: extraembryonic tissue dysmorphology extraembryonic tissue dysplasia MPheno.ontology MP:0002086 abnormal extraembryonic tissue morphology MP:0002086 any structural anomaly of the membranes involved with embryonic protection and nutrition ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 OBSOLETE. no anomaly observed in examination of embryonic development MGI:2173532 MPheno.ontology MP:0002087 obsolete embryogenesis: no defect detected true MP:0002087 OBSOLETE. no anomaly observed in examination of embryonic development https://orcid.org/0000-0003-3691-0324 limited or accelerated growth or development apparent during the embryonic period (sensu Mus: up to E14, or the completion of organogenesis) MGI:2173533 growth/weight/body size abnormality: embryonic MPheno.ontology MP:0002088 abnormal embryonic growth/weight/body size MP:0002088 limited or accelerated growth or development apparent during the embryonic period (sensu Mus: up to E14, or the completion of organogenesis) https://orcid.org/0000-0003-3691-0324 increased or decreased average body size, weight or growth characteristic abnormalities manifesting after birth MP:0001252 GO:0040007 GO:0040014 MGI:2173534 abnormal trunk/ body shape growth/weight/body size abnormality: postnatal trunk/ body shape abnormalities MPheno.ontology MP:0002089 abnormal postnatal growth/weight/body size MP:0002089 increased or decreased average body size, weight or growth characteristic abnormalities manifesting after birth https://orcid.org/0000-0003-3691-0324 any anomaly in the ability to see MP:0001991 MP:0002000 abnormal visual ability eye: visual abnormalities visual abnormalities MPheno.ontology MP:0002090 abnormal vision MP:0002090 any anomaly in the ability to see https://orcid.org/0000-0002-6490-7723 OBSOLETE. no anomaly observed in examination of eye tissue MGI:2173538 MPheno.ontology MP:0002091 obsolete eye: no defect detected true MP:0002091 OBSOLETE. no anomaly observed in examination of eye tissue https://orcid.org/0000-0003-3691-0324 any structural anomaly of the spheroid organ and optic nerve that serves to detect light MP:0001285 MP:0001294 MP:0001295 MP:0004104 eye abnormalities eye tissue abnormalities visual system abnormalities visual system defects Fyler:4863 GO:0001654 MGI:2173536 abnormal eyes morphology abnormal ocular orb morphology eye dysplasia eye malformation eye: dysmorphology ocular dysplasia ophthalmic malformation MPheno.ontology MP:0002092 abnormal eye morphology MP:0002092 any structural anomaly of the spheroid organ and optic nerve that serves to detect light ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 OBSOLETE. any dysmorphology or complete or partial opacity of the lens or cornea MP:0001303 MP:0001312 MGI:2173537 eye: corneal/lens defect MPheno.ontology MP:0002093 obsolete abnormal cornea/lens morphology true MP:0002093 OBSOLETE. any dysmorphology or complete or partial opacity of the lens or cornea https://orcid.org/0000-0003-3691-0324 OBSOLETE. no anomaly observed in examination of coat MGI:2173543 MPheno.ontology MP:0002094 obsolete coat: no defect detected true MP:0002094 OBSOLETE. no anomaly observed in examination of coat https://orcid.org/0000-0003-3691-0324 anomaly in the coloration of the skin due to changes in the amount, shape, or distribution of cells producing pigment MP:0001187 MGI:2173544 abnormal cutaneous pigmentation skin: pigmentation anomalies MPheno.ontology MP:0002095 abnormal skin pigmentation MP:0002095 anomaly in the coloration of the skin due to changes in the amount, shape, or distribution of cells producing pigment MGI:llw2 https://orcid.org/0000-0003-3691-0324 OBSOLETE. any structural anomaly or atypical condition of the skin MP:0001191 MP:0002060 MP:0001185 MGI:2173545 abnormal skin skin abnormalities skin: texture/condition anomalies MPheno.ontology MP:0002096 obsolete abnormal skin condition/ morphology true MP:0002096 OBSOLETE. any structural anomaly or atypical condition of the skin https://orcid.org/0000-0003-3691-0324 OBSOLETE. no anomaly observed in examination of skin MGI:2173546 MPheno.ontology MP:0002097 obsolete skin: no defect detected true MP:0002097 OBSOLETE. no anomaly observed in examination of skin https://orcid.org/0000-0003-3691-0324 any structural anomaly of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors MP:0001271 vibrissae abnormalities vibrissae defects MGI:2173547 abnormal contour hair morphology abnormal sinus hair morphology abnormal touch hair morphology abnormal vibrissae morphology vibrissae dysplasia vibrissae: dysmorphology MPheno.ontology abnormal whiskers morphology MP:0002098 abnormal vibrissa morphology MP:0002098 any structural anomaly of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors MESH:A13.950 https://orcid.org/0000-0003-3691-0324 OBSOLETE. no anomaly observed in examination of whiskers MGI:2173548 MPheno.ontology MP:0002099 obsolete vibrissae: no defect detected true MP:0002099 OBSOLETE. no anomaly observed in examination of whiskers https://orcid.org/0000-0003-3691-0324 any anomaly in the size, shape or structure of the hard or soft tissues of the skeletal element within the mouth that is composed of dentine and used to procure or masticate food MP:0000115 MP:0000123 teeth abnormalities MGI:2173553 abnormal teeth morphology abnormal tooth structure teeth: tooth dysmorphology tooth dysplasia MPheno.ontology MP:0002100 abnormal tooth morphology MP:0002100 any anomaly in the size, shape or structure of the hard or soft tissues of the skeletal element within the mouth that is composed of dentine and used to procure or masticate food UBERON:0001091 https://orcid.org/0000-0003-3691-0324 OBSOLETE. no anomaly observed in examination of teeth MGI:2173554 MPheno.ontology MP:0002101 obsolete teeth: no defect detected true MP:0002101 OBSOLETE. no anomaly observed in examination of teeth https://orcid.org/0000-0003-3691-0324 any structural anomaly of any of the structures involved in the ear or vestibular system MP:0000014 MP:0000016 abnormal auditory/ vestibular system morphology Fyler:4867 GO:0042471 MGI:2173556 auditory/ vestibular system abnormalities auditory/ vestibular system defects abnormal ear development/ ear malformation ear dysplasia ears: dysmorphology MPheno.ontology MP:0002102 abnormal ear morphology MP:0002102 any structural anomaly of any of the structures involved in the ear or vestibular system https://orcid.org/0000-0003-3691-0324 OBSOLETE. no anomaly observed in examination of auditory tissue or in hearing assessment MGI:2173557 MPheno.ontology MP:0002103 obsolete ears: no defect detected true MP:0002103 OBSOLETE. no anomaly observed in examination of auditory tissue or in hearing assessment https://orcid.org/0000-0003-3691-0324 true MP:0002104 true MP:0002105 any functional anomaly of the muscle, not due to an anatomical defect MP:0002105 MGI:2173559 muscle physiology abnormalities musculature: physiological defects MPheno.ontology MP:0002106 abnormal muscle physiology MP:0002106 any functional anomaly of the muscle, not due to an anatomical defect https://orcid.org/0000-0003-3691-0324 OBSOLETE. no anomaly observed in examination of muscle tissue or in physiological assessment MGI:2173560 MPheno.ontology MP:0002107 obsolete musculature: no defect detected true MP:0002107 OBSOLETE. no anomaly observed in examination of muscle tissue or in physiological assessment https://orcid.org/0000-0003-3691-0324 any structural anomaly of the contractile tissue that produces movement in animals MP:0000728 MP:0000735 MP:0000758 muscle abnormalities musculature abnormalities MGI:2173558 abnormal musculature morphology musculature: muscle dysmorphology muscle dysplasia MPheno.ontology MP:0002108 abnormal muscle morphology MP:0002108 any structural anomaly of the contractile tissue that produces movement in animals MESH:A02.633 any structural anomaly of the projecting paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm and/or legs in mammalian species MP:0000546 limb abnormalities MGI:2173549 extremities: limb dysmorphology limb dysplasia MPheno.ontology MP:0002109 abnormal limb morphology MP:0002109 any structural anomaly of the projecting paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm and/or legs in mammalian species https://orcid.org/0000-0003-3691-0324 any structural anomaly of the fingers or toes MP:0000560 digit abnormalities MGI:2173550 extremities: digit dysmorphology abnormal finger morphology abnormal toe morphology digit dysplasia MPheno.ontology MP:0002110 abnormal digit morphology MP:0002110 any structural anomaly of the fingers or toes https://orcid.org/0000-0003-3691-0324 any structural anomaly of the flexible elongated appendage located at the caudal end of the torso in many species; it is usually continuous with the vertebral column MP:0000584 MP:0005173 tail abnormalities MGI:2173551 abnormal tail structure tail structure abnormalities extremities: tail dysmorphology tail dysplasia MPheno.ontology MP:0002111 abnormal tail morphology MP:0002111 any structural anomaly of the flexible elongated appendage located at the caudal end of the torso in many species; it is usually continuous with the vertebral column https://orcid.org/0000-0003-3691-0324 OBSOLETE. no anomaly observed in examination of extremities MGI:2173552 MPheno.ontology MP:0002112 obsolete extremities: no defect detected true MP:0002112 OBSOLETE. no anomaly observed in examination of extremities https://orcid.org/0000-0003-3691-0324 any anomaly in the formation of bone tissue MP:0000056 MP:0001534 MP:0001537 MGI:2173561 abnormal bone development abnormal bone formation/ structure abnormal skeletogenesis skeletal: osteogenesis/developmental anomalies MPheno.ontology MP:0002113 abnormal skeleton development MP:0002113 any anomaly in the formation of bone tissue https://orcid.org/0000-0003-3691-0324 any structural anomaly of the articulated bones of the cranium and vertebral column skeletal: axial defects MGI:2173562 axial skeletal dysplasia MPheno.ontology MP:0002114 abnormal axial skeleton morphology MP:0002114 any structural anomaly of the articulated bones of the cranium and vertebral column ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the limb or autopod bones MGI:2173563 abnormal skeleton extremities morphology dysplastic skeletal extremities skeletal: extremities defects MPheno.ontology MP:0002115 abnormal limb bone morphology MP:0002115 any structural anomaly of the limb or autopod bones https://orcid.org/0000-0003-3691-0324 any structural anomaly of the cranial or facial bones MP:0000072 craniofacial bone defects MGI:2173564 skeletal: craniofacial defects cranial/facial bone dysplasia craniofacial bone dysplasia MPheno.ontology MP:0002116 abnormal craniofacial bone morphology MP:0002116 any structural anomaly of the cranial or facial bones https://orcid.org/0000-0003-3691-0324 OBSOLETE. no anomaly observed in examination of bones and/or skeleton MGI:2173565 MPheno.ontology MP:0002117 obsolete skeletal: no defect detected true MP:0002117 OBSOLETE. no anomaly observed in examination of bones and/or skeleton https://orcid.org/0000-0003-3691-0324 anomaly in the processes involved in the maintenance of an internal equilibrium of lipids in the fluids and tissues MGI:2173578 metabolism: abnormal lipid homeostasis MPheno.ontology MP:0002118 abnormal lipid homeostasis MP:0002118 anomaly in the processes involved in the maintenance of an internal equilibrium of lipids in the fluids and tissues https://orcid.org/0000-0003-3691-0324 excessive desire to drink, or to drink unusual fluids dipsesis MPheno.ontology MP:0002119 dipsosis MP:0002119 excessive desire to drink, or to drink unusual fluids ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0002120 OBSOLETE. altered chemical and physical processes of the body or of a tissue, not due to lipid or glucose chemistry MP:0005266 MP:0002120 MGI:2173580 MGI:2173581 metabolism: other metabolic defect metabolism: other metabolic defect measured by clinical chemistry MPheno.ontology MP:0002121 obsolete other metabolic defect true MP:0002121 OBSOLETE. altered chemical and physical processes of the body or of a tissue, not due to lipid or glucose chemistry https://orcid.org/0000-0003-3691-0324 OBSOLETE. no anomaly observed in examination of metabolic function MGI:2173582 MPheno.ontology MP:0002122 obsolete metabolism: no defect detected true MP:0002122 OBSOLETE. no anomaly observed in examination of metabolic function https://orcid.org/0000-0003-3691-0324 abnormal development of blood cells in the fetal and adult organism; in the fetus cells develop in the aorta, genital ridge and mesonephros region and later in the liver; in adults cells normally develop in the bone marrow and lymphatic tissues MP:0000236 MP:0000241 MP:0001600 MP:0001604 MP:0001605 MP:0002402 MGI:2173583 abnormal definitive haematopoiesis abnormal definitive haematosis abnormal definitive hematosis abnormal sanguification blood development abnormalities MPheno.ontology MP:0002123 abnormal definitive hematopoiesis MP:0002123 abnormal development of blood cells in the fetal and adult organism; in the fetus cells develop in the aorta, genital ridge and mesonephros region and later in the liver; in adults cells normally develop in the bone marrow and lymphatic tissues https://orcid.org/0000-0003-3691-0324 true MP:0002124 true MP:0002125 OBSOLETE. no anomaly observed in examination of hematological development or function MGI:2173586 MPheno.ontology MP:0002126 obsolete hematology: no defect detected true MP:0002126 OBSOLETE. no anomaly observed in examination of hematological development or function https://orcid.org/0000-0003-3691-0324 any structural anomaly of the heart or vascular tissue MP:0000177 cardiovascular system abnormalities cardiovascular system defects MGI:2173587 cardiovascular dysplasia cardiovascular system dysplasia heart/cardiovascular system: dysmorphology MPheno.ontology MP:0002127 abnormal cardiovascular system morphology MP:0002127 any structural anomaly of the heart or vascular tissue https://orcid.org/0000-0003-3691-0324 failure or atypical movement in the flow of blood from the heart to the vasculature and back to the heart MP:0000308 MP:0001632 abnormal circulation MGI:2173588 heart/cardiovascular system: blood circulatory defects MPheno.ontology MP:0002128 abnormal blood circulation MP:0002128 failure or atypical movement in the flow of blood from the heart to the vasculature and back to the heart https://orcid.org/0000-0003-3691-0324 true MP:0002129 true MP:0002130 OBSOLETE. no anomaly observed in examination of heart or vascular tissue or in cardiovascular function MGI:2173591 MPheno.ontology MP:0002131 obsolete heart/cardiovascular system: no defect detected true MP:0002131 OBSOLETE. no anomaly observed in examination of heart or vascular tissue or in cardiovascular function https://orcid.org/0000-0003-3691-0324 any structural anomaly of pulmonary tissues MP:0001174 Fyler:4235 MGI:2173592 respiratory system: dysmorphology pulmonary malformation respiratory system dysplasia MPheno.ontology MP:0002132 abnormal respiratory system morphology MP:0002132 any structural anomaly of pulmonary tissues https://orcid.org/0000-0003-3691-0324 any functional anomaly of the pulmonary system; inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment MGI:2173593 respiratory system dysfunction respiratory system physiology abnormalities respiratory system: respiratory distress/failure/functional anomalies MPheno.ontology MP:0002133 abnormal respiratory system physiology MP:0002133 any functional anomaly of the pulmonary system; inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment https://orcid.org/0000-0003-3691-0324 OBSOLETE. no anomaly observed in examination of lung and other respiratory tissues MGI:2173594 MPheno.ontology MP:0002134 obsolete respiratory system: no defect detected true MP:0002134 OBSOLETE. no anomaly observed in examination of lung and other respiratory tissues https://orcid.org/0000-0003-3691-0324 any structural anomaly of either of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine MP:0000518 MP:0003650 Fyler:4512 MGI:2173595 abnormal renal morphology kidney dysplasia kidney/renal system: dysmorphology renal dysplasia renal malformation MPheno.ontology MP:0002135 abnormal kidney morphology MP:0002135 any structural anomaly of either of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine https://orcid.org/0000-0003-3691-0324 any functional anomaly and/or activity of either of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine MGI:2173596 abnormal kidney function abnormal renal physiology kidney malfunction kidney/renal system: functional anomalies renal dysfunction renal functional abnormality decreased renal function impaired renal function loss of renal function reduced renal function MPheno.ontology MP:0002136 abnormal kidney physiology MP:0002136 any functional anomaly and/or activity of either of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine https://orcid.org/0000-0002-6490-7723 OBSOLETE. no anomaly observed in examination of kidney and other renal tissues MGI:2173597 MPheno.ontology MP:0002137 obsolete kidney/renal system: no defect detected true MP:0002137 OBSOLETE. no anomaly observed in examination of kidney and other renal tissues https://orcid.org/0000-0003-3691-0324 any structural anomaly of any of the tissues of the liver or biliary system MP:0002172 hepatic system abnormalities hepatic system defects MGI:2173598 abnormal liver/biliary system morphology liver/hepatic system: dysmorphology hepatic dysplasia liver/biliary system dysplasia MPheno.ontology MP:0002138 abnormal hepatobiliary system morphology MP:0002138 any structural anomaly of any of the tissues of the liver or biliary system https://orcid.org/0000-0003-3691-0324 any functional anomaly of the tissues of the liver or biliary system MP:0002173 MGI:2173599 abnormal liver/biliary system physiology liver/hepatic system: functional anomalies abnormal hepatic system physiology hepatic system physiology abnormalities MPheno.ontology MP:0002139 abnormal hepatobiliary system physiology MP:0002139 any functional anomaly of the tissues of the liver or biliary system https://orcid.org/0000-0003-3691-0324 OBSOLETE. no anomaly observed in examination of liver or other hepatic tissues MGI:2173600 MPheno.ontology MP:0002140 obsolete liver/hepatic system: no defect detected true MP:0002140 OBSOLETE. no anomaly observed in examination of liver or other hepatic tissues https://orcid.org/0000-0003-3691-0324 true MP:0002141 true MP:0002142 OBSOLETE. no anomaly obsesrved in the function of or in any region of the digestive system MGI:2173603 MPheno.ontology MP:0002143 obsolete digestive system: no defect detected true MP:0002143 OBSOLETE. no anomaly obsesrved in the function of or in any region of the digestive system https://orcid.org/0000-0003-3691-0324 atypical production of or inability to produce mature B cells, and/or accumulation of B cell precursors MP:0001801 MP:0001803 MP:0002438 B cell abnormalities B lymphocyte abnormalities B-cell abnormalities abnormal lymphoid development/ B lymphocyte defects immune system: lymphoid development/ B lymphocyte defects MGI:2173604 abnormal B cell development abnormal B cell maturation abnormal B lymphocyte development abnormal B lymphocyte maturation abnormal B-cell development abnormal B-cell maturation MPheno.ontology MP:0002144 abnormal B cell differentiation MP:0002144 atypical production of or inability to produce mature B cells, and/or accumulation of B cell precursors https://orcid.org/0000-0003-3691-0324 atypical production of or inability to produce mature T cells, and/or accumulation of T cell precursors MP:0001821 MP:0001822 MP:0002431 MP:0002489 abnormal lymphoid development/ T lymphocyte defects immune system: lymphoid development/ T lymphocyte defects MGI:2173605 abnormal T cell development abnormal T cell maturation abnormal T cell morphology/development abnormal T lymphocyte development abnormal T-cell development abnormal T-cell maturation abnormal thymocyte development MPheno.ontology MP:0002145 abnormal T cell differentiation MP:0002145 atypical production of or inability to produce mature T cells, and/or accumulation of T cell precursors https://orcid.org/0000-0003-3691-0324 OBSOLETE. abnormal development of lymphocytes or lymphatic tissue (other than B or T lymphocytes) resulting in morphological abnormality MGI:2173606 MPheno.ontology MP:0002146 obsolete immune system: other dysmorphology true MP:0002146 OBSOLETE. abnormal development of lymphocytes or lymphatic tissue (other than B or T lymphocytes) resulting in morphological abnormality https://orcid.org/0000-0003-3691-0324 OBSOLETE. defective immune response; can be primary due to defect in immune system or secondary due to disease MGI:2173607 MPheno.ontology MP:0002147 obsolete immune system: immunodeficiency true MP:0002147 OBSOLETE. defective immune response; can be primary due to defect in immune system or secondary due to disease https://orcid.org/0000-0003-3691-0324 immune response that results in tissue injury MGI:2173608 immune system: hypersensitivity immunologically mediated tissue injury MPheno.ontology MP:0002148 abnormal hypersensitivity reaction MP:0002148 immune response that results in tissue injury https://orcid.org/0000-0003-3691-0324 OBSOLETE. altered immune response not due to anatomical defect, immunodeficiency or hypersensitivity MGI:2173609 MPheno.ontology MP:0002149 obsolete immune system: other functional anomaly true MP:0002149 OBSOLETE. altered immune response not due to anatomical defect, immunodeficiency or hypersensitivity https://orcid.org/0000-0003-3691-0324 OBSOLETE. no anomaly observed in examination of immune system tissues or function MGI:2173610 MPheno.ontology MP:0002150 obsolete immune system: no defect detected true MP:0002150 OBSOLETE. no anomaly observed in examination of immune system tissues or function https://orcid.org/0000-0003-3691-0324 any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord) MP:0000922 abnormal neural tube morphology/development central nervous system: neural tube defects neural tube defects Fyler:4339 MGI:2173611 neural tube dysplasia MPheno.ontology MP:0002151 abnormal neural tube morphology MP:0002151 any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord) https://orcid.org/0000-0002-6490-7723 any structural anomaly of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) MP:0000770 MP:0000775 brain abnormalities MGI:2173612 abnormal brain structure brain structure abnormalities brain dysplasia central nervous system: brain dysmorphology MPheno.ontology MP:0002152 abnormal brain morphology MP:0002152 any structural anomaly of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) http://cancerweb.ncl.ac.uk https://orcid.org/0000-0003-3691-0324 true MP:0002153 true MP:0002154 true MP:0002155 OBSOLETE. no anomaly observed in examination of central nervous system tissues or function MGI:2173616 MPheno.ontology MP:0002156 obsolete central nervous system: no defect detected true MP:0002156 OBSOLETE. no anomaly observed in examination of central nervous system tissues or function https://orcid.org/0000-0003-3691-0324 true MP:0002157 true MP:0002158 OBSOLETE. no anomaly observed in examination of peripheral nervous system tissues or function MGI:2173619 MPheno.ontology MP:0002159 obsolete peripheral nervous system: no defect detected true MP:0002159 OBSOLETE. no anomaly observed in examination of peripheral nervous system tissues or function https://orcid.org/0000-0003-3691-0324 structural or developmental anomaly of any of the tissues involved in the reproductive system MP:0001114 MP:0001115 abnormal reproductive system reproductive system abnormalities reproductive system defects MGI:2173620 abnormal reproductive anatomy morphology reproductive system: dysmorphology reproductive system dysplasia MPheno.ontology MP:0002160 abnormal reproductive system morphology MP:0002160 structural or developmental anomaly of any of the tissues involved in the reproductive system https://orcid.org/0000-0003-3691-0324 anomaly in the reproductive capability of an organism or population to produce live offspring MP:0001920 MGI:2173621 abnormal fecundity reproductive system: fertility/fecundity anomalies MPheno.ontology MP:0002161 abnormal fertility/fecundity MP:0002161 anomaly in the reproductive capability of an organism or population to produce live offspring https://orcid.org/0000-0003-3691-0324 OBSOLETE. no anomaly observed in examination of reproductive system tissues or function MGI:2173622 MPheno.ontology MP:0002162 obsolete reproductive system: no defect detected true MP:0002162 OBSOLETE. no anomaly observed in examination of reproductive system tissues or function https://orcid.org/0000-0003-3691-0324 any structural anomaly of an organ that functions as a secretory or excretory organ MP:0000594 gland abnormalities MGI:2173623 abnormal glands morphology glands: dysmorphology glandular dysplasia MPheno.ontology MP:0002163 abnormal gland morphology MP:0002163 any structural anomaly of an organ that functions as a secretory or excretory organ https://orcid.org/0000-0003-3691-0324 any functional anomaly of an organ that functions as a secretory or excretory organ MP:0001733 MP:0001738 MP:0002692 MGI:2173624 abnormal gland function gland function abnormalities glands: functional anomalies abnormal endocrine gland function abnormal endocrine system physiology endocrine system physiology abnormalities MPheno.ontology MP:0002164 abnormal gland physiology MP:0002164 any functional anomaly of an organ that functions as a secretory or excretory organ https://orcid.org/0000-0003-3691-0324 OBSOLETE. no anomaly observed in examination of endocrine system tissues or function MGI:2173625 MPheno.ontology MP:0002165 obsolete glands: no defect detected true MP:0002165 OBSOLETE. no anomaly observed in examination of endocrine system tissues or function https://orcid.org/0000-0003-3691-0324 greater than or less than the average number of tumors, usually a specific type, arising in a given organism when compared to controls altered neoplastic susceptibility MGI:2173626 abnormal tumour susceptibility altered tumor resistance altered tumor susceptibility altered tumour resistance altered tumour susceptibility tumorigenesis: altered tumor susceptibility/resistance tumourigenesis: altered tumour susceptibility/resistance MPheno.ontology MP:0002166 abnormal tumor susceptibility MP:0002166 greater than or less than the average number of tumors, usually a specific type, arising in a given organism when compared to controls https://orcid.org/0000-0003-3691-0324 OBSOLETE. average number of tumors in an organism compared to controls, usually referring to a specific tumor type MGI:2173627 tumorigenesis: no altered tumor susceptibility/resistance MPheno.ontology MP:0002167 obsolete unaffected tumor susceptibility/resistance true MP:0002167 OBSOLETE. average number of tumors in an organism compared to controls, usually referring to a specific tumor type https://orcid.org/0000-0003-3691-0324 anomaly or dysmorphology not attributable to any other category MGI:2173628 MPheno.ontology MP:0002168 Term was obsoleted becasue it is invalid obsolete other aberrant phenotype true MP:0002168 anomaly or dysmorphology not attributable to any other category https://orcid.org/0000-0003-3691-0324 normal viability, fertility, appearance and behavior; reported phenotype is indistinguishable from controls MP:0005396 normal MGI:2173629 no phenotype: no defect detected wild type wild-type MPheno.ontology fertile viability viable MP:0002169 no abnormal phenotype detected MP:0002169 normal viability, fertility, appearance and behavior; reported phenotype is indistinguishable from controls https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 true MP:0002170 true MP:0002171 true MP:0002172 true MP:0002173 failure of embryonic cells to migrate, or migrate to the appropriate target during the development and invagination of the primary germ layers GO:0007669 MPheno.ontology MP:0002174 abnormal gastrulation movements MP:0002174 failure of embryonic cells to migrate, or migrate to the appropriate target during the development and invagination of the primary germ layers J:52418 https://orcid.org/0000-0003-3691-0324 lower than average weight of the brain low brain weight reduced brain weight MPheno.ontology MP:0002175 decreased brain weight MP:0002175 lower than average weight of the brain https://orcid.org/0000-0003-3691-0324 greater than average weight of the brain high brain weight MPheno.ontology MP:0002176 increased brain weight MP:0002176 greater than average weight of the brain https://orcid.org/0000-0003-3691-0324 any structural anomaly of any components of the auricles or external acoustic meatus abnormal pinna morphology dysplastic pinna outer ear dysplasia MPheno.ontology MP:0002177 abnormal outer ear morphology MP:0002177 any structural anomaly of any components of the auricles or external acoustic meatus ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0002178 true MP:0002179 OBSOLETE. MP:0002178 MP:0002179 MPheno.ontology MP:0002180 obsolete true MP:0002180 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. any structural anomaly of any or all brain cell types MP:0004101 abnormal brain cells brain cell abnormalities MPheno.ontology MP:0002181 obsolete abnormal brain cell morphology true MP:0002181 OBSOLETE. any structural anomaly of any or all brain cell types https://orcid.org/0000-0003-3691-0324 any structural anomaly of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord; astrocytes are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier; astrocytes regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury abnormal astrocytes morphology abnormal astrocytic glia morphology abnormal astroglia morphology abnormal astroglial cell morphology MPheno.ontology MP:0002182 abnormal astrocyte morphology MP:0002182 any structural anomaly of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord; astrocytes are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier; astrocytes regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury CL:0000127 https://orcid.org/0000-0003-3691-0324 increased growth pattern of neuroglia in a damaged area of the brain or spinal cord MPheno.ontology MP:0002183 gliosis MP:0002183 increased growth pattern of neuroglia in a damaged area of the brain or spinal cord ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 the malformation, misprojection, abnormal fasciculation or abnormal refinement of the connection, of nerve fibers to a target abnormal axonal projection abnormal neuronal projection innervation abnormalities MPheno.ontology MP:0002184 abnormal innervation MP:0002184 the malformation, misprojection, abnormal fasciculation or abnormal refinement of the connection, of nerve fibers to a target https://orcid.org/0000-0003-3691-0324 OBSOLETE. congenital positional anomaly or displacement of any part of the body or organ MP:0002186 heterotopia MPheno.ontology MP:0002185 obsolete ectopia true MP:0002185 OBSOLETE. congenital positional anomaly or displacement of any part of the body or organ ISBN:0-683-40008-8 true MP:0002186 any structural anomaly of the lateral and smaller bone of the lower limb fibula dysplasia MPheno.ontology MP:0002187 abnormal fibula morphology MP:0002187 any structural anomaly of the lateral and smaller bone of the lower limb ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 reduced size of the heart relative to average decreased heart size reduced heart size MPheno.ontology MP:0002188 small heart MP:0002188 reduced size of the heart relative to average https://orcid.org/0000-0003-3691-0324 any structural anomaly of the supporting bundles of muscular fibers lining the walls of the heart abnormal trabeculae morphology abnormal myocardium trabecular layer morphology MPheno.ontology MP:0002189 abnormal myocardial trabeculae morphology MP:0002189 any structural anomaly of the supporting bundles of muscular fibers lining the walls of the heart ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 derangement of the patterned architecture of the myocardium disorganised myocardium MPheno.ontology MP:0002190 disorganized myocardium MP:0002190 derangement of the patterned architecture of the myocardium ISBN:0-683-40008-8 any structural anomaly of the blood vessels that carry blood away from the heart abnormal arteries morpholgy arterial dysplasia artery dysplasia MPheno.ontology MP:0002191 abnormal artery morphology MP:0002191 any structural anomaly of the blood vessels that carry blood away from the heart ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 an abnormal accumulation of serous fluid in fetal tissues fetal edema fetal oedema foetal edema foetal oedema hydrops foetalis MPheno.ontology MP:0002192 hydrops fetalis MP:0002192 an abnormal accumulation of serous fluid in fetal tissues ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 seizures involving rhythmic face and forelimb clonus including arm movement, and it may include rearing and falling and ventral flexion of the neck; a seizure is scored as minimal when it satisfies the minimal criteria up to or including ventral flexion, but does not include maximal tonic hindlimb extension MPheno.ontology MP:0002193 minimal clonic seizures MP:0002193 seizures involving rhythmic face and forelimb clonus including arm movement, and it may include rearing and falling and ventral flexion of the neck; a seizure is scored as minimal when it satisfies the minimal criteria up to or including ventral flexion, but does not include maximal tonic hindlimb extension MGI:wf https://orcid.org/0000-0003-3691-0324 seizures induced by electrical stimulation of the brainstem; manifesting as a tonic-clonic flexion/extension sequence, starting in tonic extension of the forelimbs and terminating in a full tonic hindlimb extension, which is defined when the angle of the hindlimbs to the torso exceeds 90 degrees (although it is usually 180 degrees) maximal tonic hind limb extension seizures MPheno.ontology MP:0002194 maximal tonic hindlimb extension seizures MP:0002194 seizures induced by electrical stimulation of the brainstem; manifesting as a tonic-clonic flexion/extension sequence, starting in tonic extension of the forelimbs and terminating in a full tonic hindlimb extension, which is defined when the angle of the hindlimbs to the torso exceeds 90 degrees (although it is usually 180 degrees) MGI:wf https://orcid.org/0000-0003-3691-0324 low frequency, tetanic stimulation used to evoke partial limbic seizures, with currents ranging from 8 mA to 20 mA, depending on the strain and sex; manifesting as rhythmic face movements and extensive forelimb clonus (e.g. shadow-boxing forelimb movements), dorsal flexion of the neck, rearing and falling, and/or transient wobbliness/ataxia; seizure lasts only 10-15 seconds and when antiepileptic drugs are present may last only a few seconds partial limbic seizures MPheno.ontology MP:0002195 psychomotor seizures MP:0002195 low frequency, tetanic stimulation used to evoke partial limbic seizures, with currents ranging from 8 mA to 20 mA, depending on the strain and sex; manifesting as rhythmic face movements and extensive forelimb clonus (e.g. shadow-boxing forelimb movements), dorsal flexion of the neck, rearing and falling, and/or transient wobbliness/ataxia; seizure lasts only 10-15 seconds and when antiepileptic drugs are present may last only a few seconds MGI:wf https://orcid.org/0000-0003-3691-0324 absence of the commissural plate interconnecting the cortical hemispheres of the brain Fyler:4321 absence of corpus callosum acallosal agenesis of corpus callosum corpus callosum absent corpus callosum agenesis MPheno.ontology MP:0002196 absent corpus callosum MP:0002196 absence of the commissural plate interconnecting the cortical hemispheres of the brain ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0002197 true MP:0002198 any structural anomaly of any of the nerve fiber tracts that span the longitudinal fissure between the cerebral and/or cerebellar hemispheres of the brain abnormal commissure MPheno.ontology MP:0002199 abnormal brain commissure morphology MP:0002199 any structural anomaly of any of the nerve fiber tracts that span the longitudinal fissure between the cerebral and/or cerebellar hemispheres of the brain ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the brain ventricles, their associated choroid plexuses or the intercommunicating channels that connect the ventricular system abnormal brain ventricle/choroid plexus abnormal choroid/ventricle MPheno.ontology abnormal brain ventricle/choroid plexus morphology MP:0002200 abnormal brain ventricular system morphology MP:0002200 any structural anomaly of the brain ventricles, their associated choroid plexuses or the intercommunicating channels that connect the ventricular system ISBN:0-683-40008-8 OBSOLETE. aberrant function of cell surface receptors that bind signaling molecules released by neurons and convert these signals into intracellular changes influencing the behavior of cells neurotransmitter receptor defects MPheno.ontology MP:0002201 obsolete abnormal neurotransmitter receptor physiology true MP:0002201 OBSOLETE. aberrant function of cell surface receptors that bind signaling molecules released by neurons and convert these signals into intracellular changes influencing the behavior of cells MGI:cwg true MP:0002202 true MP:0002203 anomaly in the amount of endogenous signaling molecules in a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell neurotransmitter abnormalities MPheno.ontology MP:0002204 abnormal synaptic neurotransmitter level MP:0002204 anomaly in the amount of endogenous signaling molecules in a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell GO:0007269 https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002205 obsolete neurotransmitter imbalance true MP:0002205 OBSOLETE. https://orcid.org/0000-0003-3691-0324 defect in the communication from a neuron to a target across a synapse in the central nervous system abnormal synaptic transmission abnormal CNS neurotransmission MPheno.ontology MP:0002206 abnormal CNS synaptic transmission MP:0002206 defect in the communication from a neuron to a target across a synapse in the central nervous system MESH:G04.335.880.850 alterations in a persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells MP:0001472 MP:0001896 MP:0001897 MP:0002154 MGI:2173614 abnormal LTP abnormal long term potentiation central nervous system: LTP anomalies long term potentiation abnormalities abnormal LTP: CA1 region abnormal LTP: CA3 region MPheno.ontology MP:0002207 abnormal long-term potentiation MP:0002207 alterations in a persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the germ cell, that is, any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated MPheno.ontology MP:0002208 abnormal germ cell morphology MP:0002208 any structural anomaly of the germ cell, that is, any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated ISBN:0-683-40008-8 reduced numbers of any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated decreased number of germ cells germ cell depletion germ cell hypoplasia reduced germ cell number reduced number of germ cells MPheno.ontology MP:0002209 decreased germ cell number MP:0002209 reduced numbers of any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 anomaly of primary or secondary sexual development or characteristics MP:0001936 abnormal sexual differentiation MPheno.ontology MP:0002210 abnormal sex determination MP:0002210 anomaly of primary or secondary sexual development or characteristics MGI:cwg aberrant gonadal development resulting in either abnormal or absent gonads or the development of gonads inconsistent with the chromosomal sex abnormal gonad development MPheno.ontology MP:0002211 abnormal primary sex determination MP:0002211 aberrant gonadal development resulting in either abnormal or absent gonads or the development of gonads inconsistent with the chromosomal sex MGI:llw2 https://orcid.org/0000-0003-3691-0324 gonadal development may or may not be normal, and the phenotype of the animal outside the gonad does not match chromosomal sex or is ambiguous MPheno.ontology MP:0002212 abnormal secondary sex determination MP:0002212 gonadal development may or may not be normal, and the phenotype of the animal outside the gonad does not match chromosomal sex or is ambiguous MGI:llw2 the presence of both unequivocal ovarian tissue and testicular elements in the same individual regardless of karyotype; these two tissue types may be present in the same gonad (ovotestis) or may be present as separate ovaries and testis tissue elements in the same individual regardless of sex chromosome complement MPheno.ontology MP:0002213 true hermaphroditism MP:0002213 the presence of both unequivocal ovarian tissue and testicular elements in the same individual regardless of karyotype; these two tissue types may be present in the same gonad (ovotestis) or may be present as separate ovaries and testis tissue elements in the same individual regardless of sex chromosome complement ISBN:0-683-40008-8 MGI:llw2 impairment of genital ridge development; aplasia of gonadal tissue which is sometimes replaced with functionless tissue gonadal streak MPheno.ontology MP:0002214 streak gonad MP:0002214 impairment of genital ridge development; aplasia of gonadal tissue which is sometimes replaced with functionless tissue ISBN:0-683-40008-8 MGI:llw2 OBSOLETE. an XY animal displaying female sex characteristics, usually due to an X-linked mutation androgen insensitivity MPheno.ontology MP:0002215 obsolete testicular feminization true MP:0002215 OBSOLETE. an XY animal displaying female sex characteristics, usually due to an X-linked mutation ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the tubules in the testes where spermatogenesis occurs abnormal seminiferous tubules morphology seminiferous tubule dysplasia MPheno.ontology MP:0002216 abnormal seminiferous tubule morphology MP:0002216 any structural anomaly of the tubules in the testes where spermatogenesis occurs ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 lymph nodes of decreased size decreased lymph node size reduced lymph node size MPheno.ontology MP:0002217 small lymph nodes MP:0002217 lymph nodes of decreased size MGI:cwg greater than the normal number of lymph nodes MPheno.ontology MP:0002218 increased lymph node number MP:0002218 greater than the normal number of lymph nodes MGI:cwg fewer than the normal number of lymph nodes reduced lymph node number MPheno.ontology MP:0002219 decreased lymph node number MP:0002219 fewer than the normal number of lymph nodes MGI:cwg increased size of lymphatic tissues increased lymphoid organs size MPheno.ontology MP:0002220 large lymphoid organs MP:0002220 increased size of lymphatic tissues MGI:cwg change in the normal size of lymphatic tissues MPheno.ontology MP:0002221 abnormal lymph organ size MP:0002221 change in the normal size of lymphatic tissues MGI:cwg OBSOLETE. change in the normal number of cells within a lymph organ MPheno.ontology MP:0002222 obsolete abnormal lymph organ cellularity true MP:0002222 OBSOLETE. change in the normal number of cells within a lymph organ MGI:cwg decrease in the number of normal cells in normal arrangement in the lymphoid tissue, typically resulting in decreased size hypoplastic lymphoid organ lymph organ hypoplasia MPheno.ontology decreased lymphoid tissue cellularity MP:0002223 lymphoid hypoplasia MP:0002223 decrease in the number of normal cells in normal arrangement in the lymphoid tissue, typically resulting in decreased size MGI:cwg deviation from the normal spleen size MPheno.ontology abnormal splenic size MP:0002224 abnormal spleen size MP:0002224 deviation from the normal spleen size MGI:cwg OBSOLETE. anomaly in the cellular makeup of the spleen abnormal splenic cellularity spleen cellularity abnormalities MPheno.ontology MP:0002225 obsolete abnormal spleen cellularity true MP:0002225 OBSOLETE. anomaly in the cellular makeup of the spleen MGI:cwg true MP:0002226 any structural anomaly of the connective tissue that surrounds the spleen abnormal splenic capsule morphology MPheno.ontology MP:0002227 abnormal spleen capsule morphology MP:0002227 any structural anomaly of the connective tissue that surrounds the spleen MGI:cwg any structural anomaly of one of the veins that feed the splenic vein MPheno.ontology MP:0002228 abnormal spleen trabecular vein morphology MP:0002228 any structural anomaly of one of the veins that feed the splenic vein ISBN:0-397-51047-0 MGI:cwg a retrogressive impairment of function or destruction of neural tissue neuronal degeneration MPheno.ontology MP:0002229 neurodegeneration MP:0002229 a retrogressive impairment of function or destruction of neural tissue ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 anomaly in the establishment of the midline ridge of embryonic epiblast that later develops into mesoderm and endoderm MPheno.ontology MP:0002230 abnormal primitive streak formation MP:0002230 anomaly in the establishment of the midline ridge of embryonic epiblast that later develops into mesoderm and endoderm ISBN:0-12-402035-6 https://orcid.org/0000-0003-3691-0324 anomaly in the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm defective primitive streak primitive streak dysplasia MPheno.ontology MP:0002231 abnormal primitive streak morphology MP:0002231 anomaly in the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm ISBN:0-12-402035-6 https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002232 obsolete sensory capabilities true MP:0002232 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the organ that is specialized for smell and is part of the respiratory system Fyler:4870 nasal malformation nose dysplasia MPheno.ontology MP:0002233 abnormal nose morphology MP:0002233 any structural anomaly of the organ that is specialized for smell and is part of the respiratory system MESH:A01.456.505.733 MGI:cwg any structural anomaly in the passage between the mouth and the posterior nares and the larynx and esophagus pharynx dysplasia MPheno.ontology MP:0002234 abnormal pharynx morphology MP:0002234 any structural anomaly in the passage between the mouth and the posterior nares and the larynx and esophagus MGI:cwg any structural anomaly of the anterior opening to the nasal cavity abnormal anterior nares morphology abnormal nostril morphology external nares dysplasia MPheno.ontology MP:0002235 abnormal external nares morphology MP:0002235 any structural anomaly of the anterior opening to the nasal cavity MGI:cwg any structural anomaly of the portion of the opening of the nasal cavity into the nasal pharynx abnormal choanae morphology abnormal posterior nares morphology internal nares dysplasia MPheno.ontology MP:0002236 abnormal internal nares morphology MP:0002236 any structural anomaly of the portion of the opening of the nasal cavity into the nasal pharynx MGI:cwg any structural anomaly of the cavity of the respiratory tract that extends from the nares to the pharynx; the nasal cavity is lined with ciliated mucosa abnormal cavity of nose morphology abnormal cavity of olfactory apparatus morphology abnormal nasal canal morphology abnormal nasal conduit space morphology abnormal nasal fossa morphology abnormal olfactory cavity morphology abnormal olfactory chamber cavity morphology abnormal olfactory chamber morphology MPheno.ontology MP:0002237 abnormal nasal cavity morphology MP:0002237 any structural anomaly of the cavity of the respiratory tract that extends from the nares to the pharynx; the nasal cavity is lined with ciliated mucosa MESH:A04.531.449 MGI:cwg any structural anomaly of the mucous membrane that lines the nasal cavity MP:0001112 abnormal nasal mucous membrane nasal mucosa dysplasia MPheno.ontology MP:0002238 abnormal nasal mucosa morphology MP:0002238 any structural anomaly of the mucous membrane that lines the nasal cavity MESH:A04.760.600 MGI:cwg any structural anomaly of the dividing wall that runs down the midline of the nose separating the two nasal cavities, each of which ends in a nostril; it is formed by the septal nasal cartilage, parts of skull bones (ethmoid bone; vomer), and membranous parts nasal septum dysplasia MPheno.ontology MP:0002239 abnormal nasal septum morphology MP:0002239 any structural anomaly of the dividing wall that runs down the midline of the nose separating the two nasal cavities, each of which ends in a nostril; it is formed by the septal nasal cartilage, parts of skull bones (ethmoid bone; vomer), and membranous parts MESH:A04.531.591 http://www.medicinenet.com/script/main/art.asp?articlekey=13720 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity abnormal paranasal sinuses morphology paranasal sinus dysplasia MPheno.ontology MP:0002240 abnormal paranasal sinus morphology MP:0002240 any structural anomaly of the paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity ISBN:0-683-40008-8 any structural anomaly of the epithelial cells lining the larynx, which produce mucins abnormal goblet cells of the laryngeal mucosa morphology MPheno.ontology MP:0002241 abnormal laryngeal mucosa goblet cell morphology MP:0002241 any structural anomaly of the epithelial cells lining the larynx, which produce mucins ISBN:0-397-51047-0 MGI:cwg any structural anomaly of the portion of the nasal mucosa that contains the olfactory sensory endings MPheno.ontology MP:0002242 abnormal olfactory mucosa morphology MP:0002242 any structural anomaly of the portion of the nasal mucosa that contains the olfactory sensory endings MESH:A04.531.520.573 MGI:cwg any structural anomaly of the tubular, crescent-sensory organ with a luminal epithelium that contains chemosensitive receptor cells with microvilli that are thought to detect pheromones and transmit signals to the remainder of the accessory olfactory system; the organ lies at the base the nasal cavity and is split into two, separated by the nasal septum abnormal Jacobson organ morphology abnormal Jacobson's organ morphology abnormal VNO morphology abnormal organon vomeronasale morphology abnormal organum vomeronasale morphology vomeronasal organ dysplasia MPheno.ontology MP:0002243 This organ is believed to function in sensing pheromones. While the structure has been thought to be absent from higher primate adults, some data suggests that a form may be present in adult humans. abnormal vomeronasal organ morphology MP:0002243 any structural anomaly of the tubular, crescent-sensory organ with a luminal epithelium that contains chemosensitive receptor cells with microvilli that are thought to detect pheromones and transmit signals to the remainder of the accessory olfactory system; the organ lies at the base the nasal cavity and is split into two, separated by the nasal septum http://ctrgenpath.net/static/atlas/mousehistology/Windows/senses/jacobsonorgan.html http://en.wikipedia.org/wiki/Vomeronasal_organ#Structure https://orcid.org/0000-0003-3691-0324 any structural anomaly of the small curved bones that extends horizontally along the lateral wall of the nasal passage abnormal nasal concha morphology abnormal turbinates morphology turbinate dysplasia MPheno.ontology MP:0002244 abnormal turbinate morphology MP:0002244 any structural anomaly of the small curved bones that extends horizontally along the lateral wall of the nasal passage ISBN:0-683-40008-8 any structural anomaly of the evaginations of the mucous membrane of the nasal cavity into the ethmoidal bony labyrinth, forming multiple small paranasal sinuses abnormal ethmoid air cell morphology abnormal ethmoid cell morphology ethmoid sinus dysplasia MPheno.ontology MP:0002245 abnormal ethmoid sinus morphology MP:0002245 any structural anomaly of the evaginations of the mucous membrane of the nasal cavity into the ethmoidal bony labyrinth, forming multiple small paranasal sinuses ISBN:0-683-40008-8 any structural anomaly of the paired evaginations of the mucous membrane of the nasal cavity into the lower part of the squama of the frontal bones frontal sinus dysplasia MPheno.ontology MP:0002246 abnormal frontal sinus morphology MP:0002246 any structural anomaly of the paired evaginations of the mucous membrane of the nasal cavity into the lower part of the squama of the frontal bones ISBN:0-683-40008-8 any structural anomaly of the largest of the paranasal sinuses, a paired pyramid-shaped air sinus located within the maxillary bone which drains via the maxillary ostium into the infundibulum, then through the hiatus semilunaris into the middle meatus of the nose abnormal antrum of Highmore morphology abnormal genyantrum morphology abnormal maxillary antra morphology abnormal maxillary antrum morphology maxillary sinus dysplasia MPheno.ontology MP:0002247 abnormal maxillary sinus morphology MP:0002247 any structural anomaly of the largest of the paranasal sinuses, a paired pyramid-shaped air sinus located within the maxillary bone which drains via the maxillary ostium into the infundibulum, then through the hiatus semilunaris into the middle meatus of the nose ISBN:0-683-40008-8 any structural anomaly of the most posterior paranasal sinus located in the sphenoid bone near the optic nerve and the pituitary gland on the side of the skull; it drains into the sphenoethmoidal recess superior to the superior concha; the sinus is divided into right and left parts by a bony septum abnormal sphenoidal sinus morphology sphenoid sinus dysplasia MPheno.ontology MP:0002248 abnormal sphenoid sinus morphology MP:0002248 any structural anomaly of the most posterior paranasal sinus located in the sphenoid bone near the optic nerve and the pituitary gland on the side of the skull; it drains into the sphenoethmoidal recess superior to the superior concha; the sinus is divided into right and left parts by a bony septum ISBN:0-683-40008-8 https://www.dartmouth.edu/~humananatomy/part_8/chapter_52.html https://www.healthline.com/human-body-maps/sphenoid-sinus any structural anomaly of the organ of voice production located between the pharynx and the trachea larynx dysplasia MPheno.ontology MP:0002249 abnormal larynx morphology MP:0002249 any structural anomaly of the organ of voice production located between the pharynx and the trachea ISBN:0-683-40008-8 any structural anomaly in the portion of the pharynx that lies below the upper edge of the epiglottis and opens into the larynx and the esophagus hypopharynx dysplasia MPheno.ontology MP:0002250 abnormal hypopharynx morphology MP:0002250 any structural anomaly in the portion of the pharynx that lies below the upper edge of the epiglottis and opens into the larynx and the esophagus MGI:cwg any structural anomaly of the section of the pharynx that lies above the soft palate nasopharynx dysplasia MPheno.ontology MP:0002251 abnormal nasopharynx morphology MP:0002251 any structural anomaly of the section of the pharynx that lies above the soft palate MGI:cwg any structural anomaly of the portion of the pharynx that lies between the soft palate and the upper edge of the epiglottis oropharynx dysplasia MPheno.ontology MP:0002252 abnormal oropharynx morphology MP:0002252 any structural anomaly of the portion of the pharynx that lies between the soft palate and the upper edge of the epiglottis MGI:cwg any structural anomaly of any of the muscles of the pharynx, the inferior, middle and superior constrictors, salpingopharyngeus, and stylopharyngeus pharyngeal muscle dysplasia MPheno.ontology MP:0002253 abnormal pharyngeal muscle morphology MP:0002253 any structural anomaly of any of the muscles of the pharynx, the inferior, middle and superior constrictors, salpingopharyngeus, and stylopharyngeus MESH:A02.633.567.800 MGI:cwg local accumulation of fluid, plasma proteins, and leukocytes in any of the reproductive organs MPheno.ontology MP:0002254 reproductive system inflammation MP:0002254 local accumulation of fluid, plasma proteins, and leukocytes in any of the reproductive organs ISBN:0-8153-1691-7 MGI:cwg any structural anomaly of the vocal apparatus of the larynx, which includes the vocal cords and the opening between them glottis dysplasia MPheno.ontology MP:0002255 abnormal glottis morphology MP:0002255 any structural anomaly of the vocal apparatus of the larynx, which includes the vocal cords and the opening between them ISBN:0-397-51047-0 MGI:cwg any structural anomaly of the cartilaginous structures that support the larynx laryngeal cartilage dysplasia MPheno.ontology MP:0002256 abnormal laryngeal cartilage morphology MP:0002256 any structural anomaly of the cartilaginous structures that support the larynx ISBN:0-397-51047-0 MGI:cwg any structural anomaly of the paired triangular cartilages located postlaterally at the level of the thyroid cartilage abnormal cartilago arytaenoidea morphology arytenoid cartilage dysplasia MPheno.ontology MP:0002257 abnormal arytenoid cartilage morphology MP:0002257 any structural anomaly of the paired triangular cartilages located postlaterally at the level of the thyroid cartilage ISBN:0-397-51047-0 MGI:cwg any structural anomaly of the most inferior of the laryngeal cartilages abnormal cartilago cricoidea morphology cricoid cartilage dysplasia MPheno.ontology MP:0002258 abnormal cricoid cartilage morphology MP:0002258 any structural anomaly of the most inferior of the laryngeal cartilages ISBN:0-397-51047-0 MGI:cwg true MP:0002259 any structural anomaly of the largest of the laryngeal cartilages abnormal cartilago thyreoidea morphology thyroid cartilage dysplasia MPheno.ontology MP:0002260 The thyroid cartilage consists of two fused plates; their point of fusion is the "Adam's apple". abnormal thyroid cartilage morphology MP:0002260 any structural anomaly of the largest of the laryngeal cartilages ISBN:0-397-51047-0 MGI:cwg any structural anomaly of the mucous lining of the larynx, which is composed of squamous epithelium in the upper larynx and ciliated columnar epithelium in the lower larynx laryngeal mucosa dysplasia MPheno.ontology MP:0002261 abnormal laryngeal mucosa morphology MP:0002261 any structural anomaly of the mucous lining of the larynx, which is composed of squamous epithelium in the upper larynx and ciliated columnar epithelium in the lower larynx ISBN:0-397-51047-0 MGI:cwg any structural anomaly of the cells lining the nasal epithelium that produce and secrete mucins abnormal nasal mucous membrane abnormal goblet cells of the nasal mucosa morphology MPheno.ontology MP:0002262 abnormal nasal mucosa goblet cell morphology MP:0002262 any structural anomaly of the cells lining the nasal epithelium that produce and secrete mucins MGI:cwg any structural anomaly of the muscles associated with the larynx abnormal laryngeal muscles morphology laryngeal muscle dysplasia MPheno.ontology MP:0002263 abnormal laryngeal muscle morphology MP:0002263 any structural anomaly of the muscles associated with the larynx ISBN:0-397-51047-0 MESH:A02.633.567.500 MGI:cwg any structural anomaly of the upper conducting airways of the lung; these airways arise from the terminus of the trachea abnormal bronchal morphology abnormal bronchi morphology bronchal dysplasia bronchi dysplasia bronchus dysplasia MPheno.ontology MP:0002264 abnormal bronchus morphology MP:0002264 any structural anomaly of the upper conducting airways of the lung; these airways arise from the terminus of the trachea ISBN:0-397-51047-0 MESH:A04.411.125 MGI:cwg any structural anomaly of the conducting airway leading to the left lobe of the lungs left major bronchus dysplasia MPheno.ontology MP:0002265 abnormal left major bronchus morphology MP:0002265 any structural anomaly of the conducting airway leading to the left lobe of the lungs ISBN:0-397-51047-0 MGI:cwg any structural anomaly of the conducting airway leading to the right lobe of the lungs right major bronchus dysplasia MPheno.ontology MP:0002266 abnormal right major bronchus morphology MP:0002266 any structural anomaly of the conducting airway leading to the right lobe of the lungs ISBN:0-397-51047-0 MGI:cwg any structural anomaly of the conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching abnormal bronchioles morphology bronchiolar dysplasia MPheno.ontology MP:0002267 abnormal bronchiole morphology MP:0002267 any structural anomaly of the conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching ISBN:0-397-51047-0 MGI:cwg any structural anomaly of the last conducting structure of non-respiratory bronchioles; after this point, the airways have alveoli in their walls abnormal terminal bronchioles morphology terminal bronchiolar dysplasia MPheno.ontology MP:0002268 abnormal terminal bronchiole morphology MP:0002268 any structural anomaly of the last conducting structure of non-respiratory bronchioles; after this point, the airways have alveoli in their walls ISBN:0-397-51047-0 MGI:cwg acquired diminution of muscle tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation muscle atrophy MPheno.ontology MP:0002269 muscular atrophy MP:0002269 acquired diminution of muscle tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the small sac-like dilations of the distal airspace of the lung; they are present along the walls of the alveolar sacs, alveolar ducts and terminal bronchioles; gas exchange of oxygen and carbon dioxide between alveolar air and blood in the pulmonary capillaries takes place across the cell walls abnormal alveoli abnormal pulmonary alveoli morphology abnormal respiratory alveoli morphology abnormal respiratory alveolus morphology MPheno.ontology MP:0002270 abnormal pulmonary alveolus morphology MP:0002270 any structural anomaly of the small sac-like dilations of the distal airspace of the lung; they are present along the walls of the alveolar sacs, alveolar ducts and terminal bronchioles; gas exchange of oxygen and carbon dioxide between alveolar air and blood in the pulmonary capillaries takes place across the cell walls https://orcid.org/0000-0003-3691-0324 any structural anomaly of the respiratory conducting tubes distal to the respiratory bronchiole that lead to the alveolar sacs and the alveoli abnormal alveolar ducts morphology abnormal respiratory alveolar duct morphology pulmonary alveolar duct dysplasia MPheno.ontology MP:0002271 abnormal pulmonary alveolar duct morphology MP:0002271 any structural anomaly of the respiratory conducting tubes distal to the respiratory bronchiole that lead to the alveolar sacs and the alveoli ISBN:0-683-40008-8 MGI:cwg any functional anomaly of the nervous system as it relates to conduction of electrical impulses MP:0002677 abnormal electrophysiology electrophysiology abnormalities PNS electrophysiology abnormalities MPheno.ontology MP:0002272 abnormal nervous system electrophysiology MP:0002272 any functional anomaly of the nervous system as it relates to conduction of electrical impulses MGI:cwg any structural anomaly of the cells lining the alveoli abnormal alveolar epithelial cells morphology abnormal lung epithelial cells morphology abnormal pneumocyte morphology abnormal pneumonocyte morphology abnormal respiratory alveolar epithelial cell morphology abnormal respiratory alveolus epithelial cell morphology MPheno.ontology MP:0002273 abnormal pulmonary alveolus epithelial cell morphology MP:0002273 any structural anomaly of the cells lining the alveoli MGI:cwg any structural anomaly of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange CL:0002062 FMA:62500 abnormal AT1 morphology abnormal ATI morphology abnormal Pulmonary alveolar type I cell morphology abnormal Type 1 pneumocyte morphology abnormal lung type 1 cells morphology abnormal membranous pneumocytes morphology abnormal small alveolar cells morphology abnormal squamous alveolar cell morphology abnormal squamous alveolar lining cell morphology abnormal type 1 alveolar epithelial cells morphology abnormal type I alveolar epithelial cells morphology abnormal type I cells morphology abnormal type I pneumocytes morphology abnormal type I pneumonocytes morphology MPheno.ontology MP:0002274 abnormal type I pneumocyte morphology MP:0002274 any structural anomaly of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange PMID:20054144 any structural anomaly of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored CL:0002063 FMA:62501 abnormal AT2 morphology abnormal ATII morphology abnormal Cuboidal type II cell morphology abnormal Great alveolar cells morphology abnormal Lung type 2 cells morphology abnormal Lung type II cells morphology abnormal TII morphology abnormal granular pneumocytes morphology abnormal type 2 alveolar epithelial cells morphology abnormal type 2 alveolocytes morphology abnormal type 2 pneumocyte morphology abnormal type II alveolar epithelial cells morphology abnormal type II alveolocytes morphology abnormal type II cells morphology abnormal type II pneumocytes morphology abnormal type II pneumonocytes morphology MPheno.ontology MP:0002275 abnormal type II pneumocyte morphology MP:0002275 any structural anomaly of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored ISBN:0412046911 PMID:8540632 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the connective tissue located between the respiratory (airway and alveolar) epithelium, the capillary endothelium and pleural mesothelium; it contains basement membrane composed of collagen, elastin, proteoglycans, and fibronectin; it functions in the mechanical behavior of the lung, and forms a barrier to regulate the flow of plasma constituents from the capillaries to the airway and alveolar spaces abnormal pulmonary interstitium morphology lung interstitium dysplasia MPheno.ontology MP:0002276 abnormal lung interstitium morphology MP:0002276 any structural anomaly of the connective tissue located between the respiratory (airway and alveolar) epithelium, the capillary endothelium and pleural mesothelium; it contains basement membrane composed of collagen, elastin, proteoglycans, and fibronectin; it functions in the mechanical behavior of the lung, and forms a barrier to regulate the flow of plasma constituents from the capillaries to the airway and alveolar spaces ISBN:0-683-40008-8 PMID:14635660 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the mucous membrane lining the respiratory tract abnormal respiratory mucosal morphology respiratory mucosal dysplasia MPheno.ontology MP:0002277 abnormal respiratory mucosa morphology MP:0002277 any structural anomaly of the mucous membrane lining the respiratory tract MESH:A04.760 MGI:cwg OBSOLETE. structural anomaly of any of the muscles involved in breathing MPheno.ontology MP:0002278 obsolete abnormal respiratory muscle morphology true MP:0002278 OBSOLETE. structural anomaly of any of the muscles involved in breathing MGI:cwg any structural anomaly of the thin musculomebranous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control MP:0000760 diaphragm muscle dysplasia MPheno.ontology MP:0002279 abnormal diaphragm morphology MP:0002279 any structural anomaly of the thin musculomebranous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control ISBN:0-683-40008-8 MGI:cwg any structural anomaly of the respiratory muscles that arise from the lower border of one rib and insert into the upper border of the adjoining rib intercostal muscle dysplasia MPheno.ontology MP:0002280 abnormal intercostal muscle morphology MP:0002280 any structural anomaly of the respiratory muscles that arise from the lower border of one rib and insert into the upper border of the adjoining rib MESH:A02.633.567.900.500 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the cells of the respiratory epithelial lining that produce and secrete mucins MPheno.ontology MP:0002281 abnormal respiratory mucosa goblet cell morphology MP:0002281 any structural anomaly of the cells of the respiratory epithelial lining that produce and secrete mucins MGI:cwg any structural anomaly of the tube descending from the larynx and branching into the right and left main bronchi trachea dysplasia MPheno.ontology MP:0002282 abnormal trachea morphology MP:0002282 any structural anomaly of the tube descending from the larynx and branching into the right and left main bronchi MESH:A04.889 MGI:cwg OBSOLETE. MP:0006429 MPheno.ontology MP:0002283 obsolete hyaline cartilage abnormalities true MP:0002283 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the smooth muscle lining the trachea MPheno.ontology MP:0002284 abnormal tracheal smooth muscle morphology MP:0002284 any structural anomaly of the smooth muscle lining the trachea ISBN:0-397-51047-0 MGI:cwg any structural anomaly of the epithelial lining of the trachea which contains numerous ciliated cells MPheno.ontology MP:0002285 abnormal tracheal ciliated epithelium morphology MP:0002285 any structural anomaly of the epithelial lining of the trachea which contains numerous ciliated cells ISBN:0-397-51047-0 MGI:cwg failure of one or both of the testes to descend into the scrotum around the time of birth Fyler:4493 abdominal testes absence of scrotal testes cryptorchidism undescended testes MPheno.ontology MP:0002286 cryptorchism MP:0002286 failure of one or both of the testes to descend into the scrotum around the time of birth https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002287 obsolete reproductive system: fertility/fecundity characteristics true MP:0002287 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002288 obsolete litter size true MP:0002288 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0002289 true MP:0002290 OBSOLETE. MPheno.ontology MP:0002291 obsolete fecundity characteristics true MP:0002291 OBSOLETE. https://orcid.org/0000-0003-3691-0324 anomaly in the usual duration of time between when a fertilized egg implants in the wall of the uterus and the birth of offspring MPheno.ontology MP:0002292 abnormal gestational length MP:0002292 anomaly in the usual duration of time between when a fertilized egg implants in the wall of the uterus and the birth of offspring https://orcid.org/0000-0003-3691-0324 increase in the average duration of a pregnancy increased gestation length MPheno.ontology MP:0002293 long gestation period MP:0002293 increase in the average duration of a pregnancy https://orcid.org/0000-0003-3691-0324 decrease in the average duration of a pregnancy decreased gestation length MPheno.ontology MP:0002294 short gestation period MP:0002294 decrease in the average duration of a pregnancy https://orcid.org/0000-0003-3691-0324 any anomaly in the circulation of blood through the lungs MP:0001941 abnormal respiratory circulation pulmonary circulation abnormalities respiratory circulation abnormalities MPheno.ontology MP:0002295 abnormal pulmonary circulation MP:0002295 any anomaly in the circulation of blood through the lungs MESH:G09.330.582.163.770 MGI:cwg inspiration into the airways of fluid or any foreign material MPheno.ontology MP:0002296 aspiration MP:0002296 inspiration into the airways of fluid or any foreign material ISBN:0-683-40008-8 MGI:cwg anomaly in the rates of airflow during forced vital capacity determination MPheno.ontology MP:0002297 Do not confuse with forced expiratory volume, a test of pulmonary ventilation. abnormal forced expiratory flow rates MP:0002297 anomaly in the rates of airflow during forced vital capacity determination MESH:E01.370.386.700.660.225 MGI:cwg OBSOLETE. MPheno.ontology MP:0002298 obsolete abnormal maximal expiratory flow rate true MP:0002298 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002299 obsolete abnormal maximal expiratory flow-volume curve true MP:0002299 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002300 obsolete abnormal maximal midexpiratory flow rate true MP:0002300 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002301 obsolete abnormal peak expiratory flow rate true MP:0002301 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. anomaly in the maximum amount of air that can be expelled in a given number of seconds during a forced vital capacity determination MPheno.ontology MP:0002302 obsolete abnormal forced expiratory volume true MP:0002302 OBSOLETE. anomaly in the maximum amount of air that can be expelled in a given number of seconds during a forced vital capacity determination MGI:cwg OBSOLETE. anomaly in the maximum amount of air that can be breathed in and blown out over a specified interval MPheno.ontology MP:0002303 obsolete abnormal maximal voluntary ventilation true MP:0002303 OBSOLETE. anomaly in the maximum amount of air that can be breathed in and blown out over a specified interval MGI:cwg anomaly in the volume of air contained in the lungs at the end of maximal inspiration MPheno.ontology MP:0002304 abnormal total lung capacity MP:0002304 anomaly in the volume of air contained in the lungs at the end of maximal inspiration MESH:G09.772.765.850 OBSOLETE. MPheno.ontology MP:0002305 obsolete abnormal closing volume true MP:0002305 OBSOLETE. https://orcid.org/0000-0003-3691-0324 anomaly in the volume of air remaining in the lungs at the end of a normal expiration MPheno.ontology MP:0002306 abnormal functional residual capacity MP:0002306 anomaly in the volume of air remaining in the lungs at the end of a normal expiration MESH:G09.772.765.850.390 MGI:cwg OBSOLETE. anomaly in the amount of the extra volume of air that can be expired with maximum effort beyond the level reached at the end of a normal expiration MPheno.ontology MP:0002307 obsolete abnormal expiratory reserve volume true MP:0002307 OBSOLETE. anomaly in the amount of the extra volume of air that can be expired with maximum effort beyond the level reached at the end of a normal expiration MGI:cwg anomaly in the volume of air remaining in the lungs at the end of maximal expiration MPheno.ontology MP:0002308 abnormal residual volume MP:0002308 anomaly in the volume of air remaining in the lungs at the end of maximal expiration MESH:G09.772.765.850.390.820 MGI:cwg anomaly in the amount of air that is exhaled by a maximal expiration following a maximal inspiration MPheno.ontology MP:0002309 abnormal vital capacity MP:0002309 anomaly in the amount of air that is exhaled by a maximal expiration following a maximal inspiration MESH:G09.772.765.850.970 MGI:cwg less likely than normal to develop hepatic steatosis decreased susceptibility to fatty liver development increased resistance to fatty liver development increased resistance to hepatic steatosis MPheno.ontology MP:0002310 decreased susceptibility to hepatic steatosis MP:0002310 less likely than normal to develop hepatic steatosis MGI:cwg anomaly in the maximal volume of air that can be inspired after the end of a normal expiration MPheno.ontology MP:0002311 abnormal inspiratory capacity MP:0002311 anomaly in the maximal volume of air that can be inspired after the end of a normal expiration MESH:E01.370.386.700.485.750.900.350 MGI:cwg anomaly in the extra volume of air that can be inspired with maximal effort after reaching the end of a normal inspiration MPheno.ontology MP:0002312 abnormal inspiratory reserve volume MP:0002312 anomaly in the extra volume of air that can be inspired with maximal effort after reaching the end of a normal inspiration MESH:G09.772.765.850.970.500.375 MGI:cwg anomaly in the volume of air inspired or expired during each normal respiratory cycle MPheno.ontology MP:0002313 abnormal tidal volume MP:0002313 anomaly in the volume of air inspired or expired during each normal respiratory cycle MESH:G09.772.765.850.970.500.700 MGI:cwg anomaly in the action of the lungs, diaphragm, ribs and chest wall during respiration MPheno.ontology MP:0002314 abnormal respiratory mechanics MP:0002314 anomaly in the action of the lungs, diaphragm, ribs and chest wall during respiration MESH:G09.772.770.755.700 MGI:cwg OBSOLETE. manifestations of diseases of the respiratory tract MPheno.ontology MP:0002315 obsolete abnormal respiratory signs/symptoms true MP:0002315 OBSOLETE. manifestations of diseases of the respiratory tract MESH:C23.888.852 MGI:cwg absence or almost complete absence of oxygen from inspired gases, in blood or tissues MPheno.ontology MP:0002316 anoxia MP:0002316 absence or almost complete absence of oxygen from inspired gases, in blood or tissues ISBN:0-683-40008-8 MGI:cwg true MP:0002317 elevated concentration of CO2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases increased partial CO2 level MPheno.ontology MP:0002318 hypercapnia MP:0002318 elevated concentration of CO2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 elevated concentration of O2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases increased partial O2 level MPheno.ontology MP:0002319 hyperoxia MP:0002319 elevated concentration of O2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 a state in which there is a increased amount of air entering the pulmonary alveoli (increased alveolar ventilation), which causes an decrease in arterial carbon dioxide level increased alveolar ventilation MPheno.ontology MP:0002320 hyperventilation MP:0002320 a state in which there is a increased amount of air entering the pulmonary alveoli (increased alveolar ventilation), which causes an decrease in arterial carbon dioxide level http://www.dorlands.com/ a state in which there is a reduced amount of air entering the pulmonary alveoli (decreased alveolar ventilation), which causes an increase in arterial carbon dioxide level decreased alveolar ventilation MPheno.ontology MP:0002321 hypoventilation MP:0002321 a state in which there is a reduced amount of air entering the pulmonary alveoli (decreased alveolar ventilation), which causes an increase in arterial carbon dioxide level http://www.dorlands.com/ anomaly in the process of gas exchange MPheno.ontology MP:0002322 abnormal respiratory transport MP:0002322 anomaly in the process of gas exchange MESH:G06.535.166.775 MGI:cwg less likely than normal to develop abnormally high levels of circulating lipids decreased susceptibility to hyperlipidaemia increased resistance to hyperlipidaemia increased resistance to hyperlipidemia MPheno.ontology MP:0002323 decreased susceptibility to hyperlipidemia MP:0002323 less likely than normal to develop abnormally high levels of circulating lipids MGI:cwg any structural anomaly of the membrane between the capillary blood and alveolar air, comprised of the alveolar epithelium and the capillary epithelium and their adherent basement membranes and epithelial cell cytoplasm abnormal alveolar-capillary barrier morphology abnormal alveolar-capillary membrane morphology abnormal alveolocapillary barrier morphology abnormal blood-air barrier morphology abnormal blood-gas barrier morphology MPheno.ontology MP:0002324 abnormal alveolocapillary membrane morphology MP:0002324 any structural anomaly of the membrane between the capillary blood and alveolar air, comprised of the alveolar epithelium and the capillary epithelium and their adherent basement membranes and epithelial cell cytoplasm MESH:A04.411.715.025 MGI:cwg anomaly in the amount of gas taken up by pulmonary capillary blood per minute per unit of average oxygen pressure gradient between alveolar gas and pulmonary capillary blood MPheno.ontology MP:0002325 abnormal pulmonary diffusing capacity MP:0002325 anomaly in the amount of gas taken up by pulmonary capillary blood per minute per unit of average oxygen pressure gradient between alveolar gas and pulmonary capillary blood MESH:G09.772.765.600 MGI:cwg anomaly in the ratio of alveolar ventilation to simultaneous capillary blood flow in the lung MPheno.ontology MP:0002326 Changes in the ventilation-perfusion ratio alter the amount of O2 or CO2 in the blood. abnormal ventilation-perfusion ratio MP:0002326 anomaly in the ratio of alveolar ventilation to simultaneous capillary blood flow in the lung MESH:G09.772.765.920 MGI:cwg anomaly in any measure of the processes involved in respiration MPheno.ontology MP:0002327 abnormal respiratory function MP:0002327 anomaly in any measure of the processes involved in respiration MGI:cwg anomaly in the opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow MPheno.ontology MP:0002328 abnormal airway resistance MP:0002328 anomaly in the opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow MESH:E01.370.386.700.050 MGI:cwg anomaly in the amount of oxygen and carbon dioxide in the blood MPheno.ontology MP:0002329 abnormal blood gas level MP:0002329 anomaly in the amount of oxygen and carbon dioxide in the blood MESH:E01.450.150.100.100 MGI:cwg anomaly in the results of measures of responsiveness to allergens, pharmacological solutions, or control solutions MPheno.ontology MP:0002330 abnormal bronchial provocation MP:0002330 anomaly in the results of measures of responsiveness to allergens, pharmacological solutions, or control solutions MESH:E01.370.386.700.125 MGI:cwg true MP:0002331 improved or impaired performance during controlled physical activity abnormal exercise fitness MPheno.ontology abnormal exercise tests MP:0002332 abnormal exercise endurance MP:0002332 improved or impaired performance during controlled physical activity https://orcid.org/0000-0003-4606-0597 anomaly in the ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure abnormal pulmonary compliance MPheno.ontology MP:0002333 This is a measure of the stiffness of the lung and indicative for diseases that cause fibrosis or edema in the lungs. abnormal lung compliance MP:0002333 anomaly in the ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure ISBN:070202788X MESH:E01.370.386.700.475 anomalous response in bronchial provocation tests MP:0002331 abnormal methacholine challenge MPheno.ontology MP:0002334 abnormal airway responsiveness MP:0002334 anomalous response in bronchial provocation tests MGI:cwg less easily provoked into bronchoconstriction during bronchial provocation testing airway hyporesponsiveness reduced airway responsiveness MPheno.ontology MP:0002335 decreased airway responsiveness MP:0002335 less easily provoked into bronchoconstriction during bronchial provocation testing MGI:cwg anomaly in the exchange of oxygen and carbon dioxide between the alveolar air and pulmonary capillary blood MPheno.ontology MP:0002336 abnormal pulmonary gas exchange MP:0002336 anomaly in the exchange of oxygen and carbon dioxide between the alveolar air and pulmonary capillary blood MESH:G09.772.770.755.760.602 MGI:cwg anomaly in the measurements gathered in a chamber that encloses the body and in which changes in volume are recorded MPheno.ontology MP:0002337 abnormal whole-body plethysmography MP:0002337 anomaly in the measurements gathered in a chamber that encloses the body and in which changes in volume are recorded ISBN:0-683-40008-8 MESH:E01.370.386.700.615 MGI:cwg anomaly of the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment abnormal respiratory minute volume MPheno.ontology abnormal respiratory minute ventilation MP:0002338 Do not confuse with pulmonary ventilation rate (aka respiratory rate). Pulmonary ventilation is the volume of air per minute; pulmonary ventilation rate is the number of breaths per minute. abnormal pulmonary ventilation MP:0002338 anomaly of the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the oval or bean shaped bodies located along the lymphatic system that consist of densely packed lymphocytes, lymph fluid and connective tissue, and is the site where acquired immune responses are launched MP:0000699 MP:0005024 lymph node abnormalities abnormal lymph gland morphology abnormal lymph node structure lymph node dysplasia MPheno.ontology MP:0002339 abnormal lymph node morphology MP:0002339 any structural anomaly of the oval or bean shaped bodies located along the lymphatic system that consist of densely packed lymphocytes, lymph fluid and connective tissue, and is the site where acquired immune responses are launched MESH:A10.549.400 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region axillary lymph node abnormalities MPheno.ontology MP:0002340 abnormal axillary lymph node morphology MP:0002340 any structural anomaly of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region ISBN:0-683-40008-8 OBSOLETE. anomaly in the connective tissue that surrounds a lymph node MPheno.ontology MP:0002341 obsolete abnormal lymph node capsule true MP:0002341 OBSOLETE. anomaly in the connective tissue that surrounds a lymph node ISBN:0-397-51047-0 MGI:cwg any structural anomaly of the membranous processes on the internal surface of the lymph node capsule, consisting of connective tissue and muscle fibers abnormal lymph node trabeculae morphology lymph node trabecula dysplasia lymph node trabeculae dysplasia MPheno.ontology MP:0002342 abnormal lymph node trabecula morphology MP:0002342 any structural anomaly of the membranous processes on the internal surface of the lymph node capsule, consisting of connective tissue and muscle fibers ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly in the outer area of the lymph node that has B and T cell domains MPheno.ontology MP:0002343 abnormal lymph node cortex morphology MP:0002343 any structural anomaly in the outer area of the lymph node that has B and T cell domains ISBN:0-8153-1691-7 MGI:cwg any structural anomaly of the part of the lymph node cortex in which B lymphocytes home to primary follicles to survey follicular dendritic cells (FDCs); antigen stimulated B cells proliferate and differentiate within the follicles forming distinctive germinal centers abnormal lymph node B cell dependent cortex morphology abnormal lymph node B-cell domain morphology abnormal nodular lymph node cortex morphology MPheno.ontology MP:0002344 abnormal lymph node B cell domain morphology MP:0002344 any structural anomaly of the part of the lymph node cortex in which B lymphocytes home to primary follicles to survey follicular dendritic cells (FDCs); antigen stimulated B cells proliferate and differentiate within the follicles forming distinctive germinal centers PMID:17067937 any structural anomaly of an unstimulated network of follicular dendritic cells and small resting B cells in the lymph node cortex MPheno.ontology MP:0002345 Cells in the primary follicle consist of cohesive aggregates of small, normal-appearing lymphocytes. abnormal lymph node primary follicle morphology MP:0002345 any structural anomaly of an unstimulated network of follicular dendritic cells and small resting B cells in the lymph node cortex ISBN:0716749475 any structural anomaly of a lymph node primary follicle that has undergone antigenic challenge and is characterized by a ring of concentrically packed B lymphocytes surrounding a germinal center, which contains proliferating B cells, and a mantle area that contains nondividing B cells and some helper T cells with macrophages and follicular dendritic cells interspersed MPheno.ontology MP:0002346 abnormal lymph node secondary follicle morphology MP:0002346 any structural anomaly of a lymph node primary follicle that has undergone antigenic challenge and is characterized by a ring of concentrically packed B lymphocytes surrounding a germinal center, which contains proliferating B cells, and a mantle area that contains nondividing B cells and some helper T cells with macrophages and follicular dendritic cells interspersed ISBN:0716749475 any structural anomaly of the paracortex and interfollicular cortex of the lymph node in which T lymphocytes home to survey dendritic cells; T lymphocytes proliferate in the paracortex and enlarge it but do not produce structures analogous to germinal centers abnormal lymph node T cell dependent paracortex morphology abnormal lymph node T-cell domain morphology abnormal lymph node deep cortex morphology MPheno.ontology MP:0002347 abnormal lymph node T cell domain morphology MP:0002347 any structural anomaly of the paracortex and interfollicular cortex of the lymph node in which T lymphocytes home to survey dendritic cells; T lymphocytes proliferate in the paracortex and enlarge it but do not produce structures analogous to germinal centers PMID:17067937 any structural anomaly in the area of the lymph node through which lymph leaves the node; it contains macrophages and antibody-secreting plasma cells abnormal medullary sinus morphology lymph node medulla dysplasia MPheno.ontology MP:0002348 abnormal lymph node medulla morphology MP:0002348 any structural anomaly in the area of the lymph node through which lymph leaves the node; it contains macrophages and antibody-secreting plasma cells ISBN:0-8153-1691-7 MGI:cwg any structural anomaly in the lymphatic tubes entering the lymph node MA:0000748 MPheno.ontology MP:0002349 abnormal afferent lymphatic vessel morphology MP:0002349 any structural anomaly in the lymphatic tubes entering the lymph node MGI:cwg any structural anomaly in the lymphatic tube exiting the lymph node MA:0000749 MPheno.ontology MP:0002350 abnormal efferent lymphatic vessel morphology MP:0002350 any structural anomaly in the lymphatic tube exiting the lymph node MGI:cwg any structural anomaly of the lymph nodes found near the neck and shoulders cervical lymph node dysplasia MPheno.ontology MP:0002351 abnormal cervical lymph node morphology MP:0002351 any structural anomaly of the lymph nodes found near the neck and shoulders MGI:cwg any structural anomaly of the lymph nodes which drain the legs popliteal lymph node dysplasia MPheno.ontology MP:0002352 abnormal popliteal lymph node morphology MP:0002352 any structural anomaly of the lymph nodes which drain the legs MGI:cwg any structural anomaly of the lymph nodes located in the groin area inguinal lymph node dysplasia MPheno.ontology MP:0002353 abnormal inguinal lymph node morphology MP:0002353 any structural anomaly of the lymph nodes located in the groin area MGI:cwg any structural anomaly of one of the branches of the splenic artery MPheno.ontology MP:0002354 abnormal spleen trabecular artery morphology MP:0002354 any structural anomaly of one of the branches of the splenic artery ISBN:0-397-51047-0 MGI:cwg OBSOLETE. MPheno.ontology MP:0002355 obsolete abnormal spleen venous sinus true MP:0002355 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation abnormal splenic red pulp morphology MPheno.ontology MP:0002356 abnormal spleen red pulp morphology MP:0002356 any structural anomaly of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation https://orcid.org/0000-0003-3691-0324 any structural anomaly of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies abnormal splenic white pulp morphology MPheno.ontology MP:0002357 Note that there is no consensus in the literature about which compartments constitute the white pulp or the ramifications of the microvasculature. In addition, notable differences exist between humans and rodents. In this ontology, the marginal sinus and marginal zone have been included as part of the white pulp. abnormal spleen white pulp morphology MP:0002357 any structural anomaly of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies https://orcid.org/0000-0003-3691-0324 any structural anomaly of the area of the spleen in which T cells surround the central arteriole abnormal PALS morphology abnormal T cell domain of the splenic white pulp morphology abnormal periarteriolar sheath morphology abnormal splenic periarteriolar lymphoid sheath morphology MPheno.ontology MP:0002358 abnormal spleen periarteriolar lymphoid sheath morphology MP:0002358 any structural anomaly of the area of the spleen in which T cells surround the central arteriole ISBN:0-397-51047-0 ISBN:0-8153-1691-7 MGI:cwg any structural anomaly of the area of the spleen secondary B follicle where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs abnormal spleen GC morphology abnormal spleen follicle center morphology abnormal spleen follicle centre morphology abnormal spleen germinal centre morphology abnormal splenic germinal center morphology abnormal splenic germinal centre morphology MPheno.ontology MP:0002359 Germinal centers are often identified by the binding of peanut agglutinin (PNA). abnormal spleen germinal center morphology MP:0002359 any structural anomaly of the area of the spleen secondary B follicle where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs PMID:17495967 any structural anomaly of the area of the spleen secondary B follicle that surrounds the germinal center and harbors the small recirculating B lymphocytes abnormal B cell domain of the spleen abnormal lymphocytic corona abnormal follicle mantle morphology abnormal mantle zone abnormal spleen B-cell corona morphology abnormal splenic B cell corona morphology MPheno.ontology MP:0002360 abnormal spleen B cell corona morphology MP:0002360 any structural anomaly of the area of the spleen secondary B follicle that surrounds the germinal center and harbors the small recirculating B lymphocytes PMID:17495967 any structural anomaly of the blood vessel surrounded by the periarteriolar lymphoid sheath that connects the trabecular artery to the trabecular vein abnormal CA morphology abnormal follicular arteriole morphology abnormal splenic central arteriole morphology MPheno.ontology MP:0002361 abnormal spleen central arteriole morphology MP:0002361 any structural anomaly of the blood vessel surrounded by the periarteriolar lymphoid sheath that connects the trabecular artery to the trabecular vein ISBN:0-8153-1691-7 any structural anomaly of the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens abnormal splenic marginal zone morphology MPheno.ontology MP:0002362 Note that there is no consensus in the literature about which compartments constitute the white pulp or the ramifications of the microvasculature. In addition, notable differences exist between humans and rodents. In this ontology, the marginal zone has been included as part of the white pulp. abnormal spleen marginal zone morphology MP:0002362 any structural anomaly of the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens ISBN:0-683-40008-8 any structural anomaly of the border region surrounding the spleen B cell follicles and the periarteriolar lymphoid sheath (PALS) that separates it from the marginal zone that mediates lymphocyte entry into the white pulp from the blood abnormal splenic marginal sinus morphology MPheno.ontology MP:0002363 Note that there is no consensus in the literature about which compartments constitute the white pulp or the ramifications of the microvasculature. In addition, notable differences exist between humans and rodents. In this ontology, the marginal sinus (which may not exist in human) has been included as part of the white pulp. The perifollicular zone, which is present in human and not rodents, may be the functional equivalent of the marginal sinus in rodents. abnormal spleen marginal sinus morphology MP:0002363 any structural anomaly of the border region surrounding the spleen B cell follicles and the periarteriolar lymphoid sheath (PALS) that separates it from the marginal zone that mediates lymphocyte entry into the white pulp from the blood PMID:11485909 deviation from the normal size of the thymus MPheno.ontology MP:0002364 abnormal thymus size MP:0002364 deviation from the normal size of the thymus MGI:cwg OBSOLETE. anomaly in the cellular makeup of the thymus abnormal thymic cellularity MPheno.ontology MP:0002365 obsolete abnormal thymus cellularity true MP:0002365 OBSOLETE. anomaly in the cellular makeup of the thymus MGI:cwg true MP:0002366 any structural anomaly of the basic structural unit of the thymus thymus lobule dysplasia MPheno.ontology MP:0002367 abnormal thymus lobule morphology MP:0002367 any structural anomaly of the basic structural unit of the thymus ISBN:0-397-51047-0 MGI:cwg any structural anomaly of the fibrous connective tissue surrounding the thymus thymus capsule dysplasia MPheno.ontology MP:0002368 abnormal thymus capsule morphology MP:0002368 any structural anomaly of the fibrous connective tissue surrounding the thymus MGI:cwg any structural anomaly of the epithelial cells lining the capsule and trabeculae of the thymus abnormal subcapsular epithelium of the thymus morphology MPheno.ontology MP:0002369 abnormal thymus subcapsular epithelium morphology MP:0002369 any structural anomaly of the epithelial cells lining the capsule and trabeculae of the thymus ISBN:0-8153-1691-7 MGI:cwg any structural anomaly of the thymic connective tissue which extends into the parenchyma abnormal thymus trabeculae morphology thymus trabecula dysplasia MPheno.ontology MP:0002370 abnormal thymus trabecula morphology MP:0002370 any structural anomaly of the thymic connective tissue which extends into the parenchyma ISBN:0-397-51047-0 MGI:cwg any structural anomaly of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes thymus cortex dysplasia MPheno.ontology MP:0002371 The thymic cortex contains immature thymocytes, cortical epithelial cells, and scattered macrophages. abnormal thymus cortex morphology MP:0002371 any structural anomaly of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes ISBN:0-683-40008-8 true MP:0002372 OBSOLETE. MPheno.ontology MP:0002373 obsolete abnormal macrophages in the thymus true MP:0002373 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002374 obsolete abnormal thymus epithelial cells true MP:0002374 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the inner area of thymus lobules thymus medulla dysplasia MPheno.ontology MP:0002375 The thymic medulla contains mature thymocytes, medulla epithelial cells, macrophages and dendritic cells. abnormal thymus medulla morphology MP:0002375 any structural anomaly of the inner area of thymus lobules ISBN:0-8153-1691-7 MGI:cwg any functional anomaly of the immunocompetent cells of the lymphoid and hemopoietic systems and skin, which function to process antigens and present them to T cells, thus stimulating cellular immunity abnormal dendritic cell function abnormal interdigitating reticular cell physiology MPheno.ontology MP:0002376 abnormal dendritic cell physiology MP:0002376 any functional anomaly of the immunocompetent cells of the lymphoid and hemopoietic systems and skin, which function to process antigens and present them to T cells, thus stimulating cellular immunity J:85808 MESH:A11.066.270 any structural anomaly of the regional immune system associated with the mucosa MALT abnormalities mucosa-associated lymphoid tissue abnormalities MALT dysplasia mucosa-associated lymphoid tissue dysplasia MPheno.ontology MP:0002377 abnormal mucosa-associated lymphoid tissue morphology MP:0002377 any structural anomaly of the regional immune system associated with the mucosa ISBN:0-8153-1691-7 MGI:cwg any structural anomaly of the regional immune system located in the gut GALT abnormalities gut-associated lymphoid tissue abnormalities GALT dysplasia gut-associated lymphoid tissue dysplasia MPheno.ontology MP:0002378 abnormal gut-associated lymphoid tissue morphology MP:0002378 any structural anomaly of the regional immune system located in the gut ISBN:0-8153-1691-7 MGI:cwg any structural anomaly of the circular lymphoid tissue formed by the lingual, pharyngeal, and facial tonsils abnormal Waldeyer's ring morphology oropharyngeal lymphoid tissue dysplasia MPheno.ontology MP:0002379 abnormal oropharyngeal lymphoid tissue morphology MP:0002379 any structural anomaly of the circular lymphoid tissue formed by the lingual, pharyngeal, and facial tonsils MGI:cwg any structural anomaly of either of the two small almond-shaped masses of lymph tissue found on either side of the oropharynx abnormal tonsil morphology MPheno.ontology MP:0002380 abnormal palatine tonsil morphology MP:0002380 any structural anomaly of either of the two small almond-shaped masses of lymph tissue found on either side of the oropharynx MGI:cwg OBSOLETE. MPheno.ontology MP:0002381 obsolete abnormal tonsil capsule true MP:0002381 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002382 obsolete abnormal lymphatic nodules with germinal centers true MP:0002382 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002383 obsolete abnormal tonsil crypts true MP:0002383 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the lymph tissue in the roof and posterior wall of the nasopharynx abnormal adenoid morphology adenoid dysplasia nasopharyngeal tonsil dysplasia MPheno.ontology MP:0002384 abnormal nasopharyngeal tonsil morphology MP:0002384 any structural anomaly of the lymph tissue in the roof and posterior wall of the nasopharynx MGI:cwg any structural anomaly of the lymph tissue on the floor of the oropharyngeal passage, near the root of the tongue lingual tonsillar tissue dysplasia MPheno.ontology MP:0002385 abnormal lingual tonsillar tissue morphology MP:0002385 any structural anomaly of the lymph tissue on the floor of the oropharyngeal passage, near the root of the tongue MGI:cwg any structural anomaly of the lymph tissue associated with the pharyngeal opening of the auditory tube MPheno.ontology MP:0002386 abnormal tubal tonsil morphology MP:0002386 any structural anomaly of the lymph tissue associated with the pharyngeal opening of the auditory tube MGI:cwg OBSOLETE. deviation from the normal distribution and/or number of Peyer's patches MP:0008131 MP:0008134 MPheno.ontology MP:0002387 obsolete abnormal prevalence of Peyer's patches true MP:0002387 OBSOLETE. deviation from the normal distribution and/or number of Peyer's patches MGI:cwg any structural anomaly of the specialized epithelium of the Peyer's patch MPheno.ontology MP:0002388 Antigen normally enters the Peyer's patch via this specialized epithelium. abnormal Peyer's patch epithelium morphology MP:0002388 any structural anomaly of the specialized epithelium of the Peyer's patch ISBN:0-8153-1691-7 MGI:cwg any structural anomaly of the area of the Peyer's patch normally occupied by B cells MPheno.ontology MP:0002389 abnormal Peyer's patch follicle morphology MP:0002389 any structural anomaly of the area of the Peyer's patch normally occupied by B cells ISBN:0-8153-1691-7 MGI:cwg OBSOLETE. MPheno.ontology MP:0002390 obsolete abnormal Peyer's patch dome true MP:0002390 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the area of the Peyer's patch where B cells proliferate and differentiate into plasma cells abnormal Peyer's patch germinal centre morphology MPheno.ontology MP:0002391 Germinal centers are often identified by the binding of peanut agglutinin (PNA). abnormal Peyer's patch germinal center morphology MP:0002391 any structural anomaly of the area of the Peyer's patch where B cells proliferate and differentiate into plasma cells ISBN:0-8153-1691-7 MGI:cwg any structural anomaly of the Peyer's patch area normally occupied by T lymphocytes MPheno.ontology MP:0002392 abnormal Peyer's patch T cell area morphology MP:0002392 any structural anomaly of the Peyer's patch area normally occupied by T lymphocytes ISBN:0-8153-1691-7 MGI:cwg any structural anomaly of the regional immune system located near the bronchus BALT abnormalities bronchial-associated lymphoid tissue abnormalities bronchus-associated lymphoid tissue abnormalities abnormal bronchial-associated lymphoid tissue morphology BALT dysplasia MPheno.ontology MP:0002393 abnormal bronchus-associated lymphoid tissue morphology MP:0002393 any structural anomaly of the regional immune system located near the bronchus ISBN:0-8153-1691-7 MGI:cwg OBSOLETE. lack of a particular group of T cells absence of thymocyte subset MPheno.ontology MP:0002394 obsolete absent thymocyte subset true MP:0002394 OBSOLETE. lack of a particular group of T cells MGI:cwg OBSOLETE. anomalies of the blood and blood-forming tissues or of the immune system and immune cell forming tissues hematolymphoid system abnormalities MPheno.ontology MP:0002395 obsolete hemolymphoid system abnormalities true MP:0002395 OBSOLETE. anomalies of the blood and blood-forming tissues or of the immune system and immune cell forming tissues MGI:cwg any structural or developmental anomaly of the blood cells or the organs associated with the development and formation of blood cells haematopoietic organ abnormalities hematopoietic organ abnormalities abnormal blood morphology abnormal haematopoietic system morphology/development abnormal haemopoietic system morphology/development abnormal hemopoietic system morphology/development haematopoietic system dysplasia hematopoietic system dysplasia MPheno.ontology MP:0002396 abnormal hematopoietic system morphology/development MP:0002396 any structural or developmental anomaly of the blood cells or the organs associated with the development and formation of blood cells MGI:cwg any structural anomaly of the soft tissue that fills the cavities of bones bone marrow abnormalities MPheno.ontology MP:0002397 Note that this term refers to the contents of the bone marrow cavity, not to the structure of the cavity itself. abnormal bone marrow morphology MP:0002397 any structural anomaly of the soft tissue that fills the cavities of bones MGI:cwg any structural anomaly of the cells found in the bone marrow bone marrow cell abnormalities MPheno.ontology MP:0002398 abnormal bone marrow cell morphology/development MP:0002398 any structural anomaly of the cells found in the bone marrow MGI:cwg any structural anomaly of the cells that give rise to most types of cells necessary for fetal development pluripotent stem cell abnormalities MPheno.ontology MP:0002399 abnormal pluripotent precursor cell morphology MP:0002399 any structural anomaly of the cells that give rise to most types of cells necessary for fetal development MESH:A11.872.700 MGI:cwg any structural anomaly of the specialized cells that are committed to giving rise to cells with particular functions multipotent stem cell abnormalities MPheno.ontology MP:0002400 abnormal multipotent stem cell morphology MP:0002400 any structural anomaly of the specialized cells that are committed to giving rise to cells with particular functions MESH:A11.872.590 MGI:cwg atypical formation of lymphocytes and plasma cells from lymphoid stem cells which develop from the pluripotent hematopoietic stem cells in the bone marrow; lymphoid stem cells differentiate into T-lymphocytes; B-lymphocytes; plasma cells; or NK-cells (natural killer cells), depending on the organ or tissues to which they migrate MP:0000310 MP:0001640 MP:0001880 MP:0008110 abnormal lymphocyte differentiation lymphopoiesis abnormalities MPheno.ontology MP:0002401 abnormal lymphopoiesis MP:0002401 atypical formation of lymphocytes and plasma cells from lymphoid stem cells which develop from the pluripotent hematopoietic stem cells in the bone marrow; lymphoid stem cells differentiate into T-lymphocytes; B-lymphocytes; plasma cells; or NK-cells (natural killer cells), depending on the organ or tissues to which they migrate MESH:G04.335.151.825.597.500 true MP:0002402 any structural anomaly of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface abnormal pre-B-cell morphology MPheno.ontology MP:0002403 These cells express the mu heavy chain in both the cytoplasm and on the cell surface; in addition to the mu heavy chain, other cell surface markers include CD45R, MHC class II, CD19, CD20, CD38, and CD40. abnormal pre-B cell morphology MP:0002403 any structural anomaly of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface ISBN:0-8153-1691-7 MGI:cwg greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the small and/or large intestine, occurring in a specific population in a given time period increased intestinal adenomata incidence increased intestine adenoma incidence MPheno.ontology MP:0002404 increased intestinal adenoma incidence MP:0002404 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the small and/or large intestine, occurring in a specific population in a given time period https://orcid.org/0000-0002-0371-1954 local accumulation of fluid, plasma proteins, and leukocytes in the respiratory system MPheno.ontology MP:0002405 respiratory system inflammation MP:0002405 local accumulation of fluid, plasma proteins, and leukocytes in the respiratory system ISBN:0-8153-1691-7 MGI:cwg greater likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens MP:0002550 MP:0003001 susceptibility to infection decreased resistance to infection MPheno.ontology MP:0002406 increased susceptibility to infection MP:0002406 greater likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens ISBN:0-683-40008-8 MGI:cwg any structural anomaly of the subset of T cells found in the thymus that express neither CD4 nor CD8 CD4-CD8- T cell abnormalities abnormal double negative T cell morphology double-negative T cell abnormalities double-negative T-cell abnormalities MPheno.ontology MP:0002407 These are precursors to mature T cells; normally, they do not circulate, but are found in the thymus and they have not undergone rearrangement of the alpha and beta T cell receptor genes. abnormal double-negative T cell morphology MP:0002407 any structural anomaly of the subset of T cells found in the thymus that express neither CD4 nor CD8 ISBN:0-8153-1691-7 MGI:cwg any anomaly of the subset of T cells found in the thymus that express both CD4 and CD8 CD4+CD8+ T cell abnormalities abnormal double positive T cell morphology double-positive T cell abnormalities double-positive T-cell abnormalities MPheno.ontology MP:0002408 These cells are precursors to mature T cells and are generally located in the thymus; during their development, the alpha and beta chains of the T cell receptor are rearranged and the TCR receptor can be expressed. abnormal double-positive T cell morphology MP:0002408 any anomaly of the subset of T cells found in the thymus that express both CD4 and CD8 ISBN:0-8153-1691-7 MGI:cwg reduced likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens MP:0002549 MP:0003002 increased resistance to infection reduced susceptibility to infection resistance to infection MPheno.ontology MP:0002409 decreased susceptibility to infection MP:0002409 reduced likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens ISBN:0-683-40008-8 MGI:cwg reduced likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus increased resistance to viral infection reduced susceptibility to viral infection MPheno.ontology MP:0002410 decreased susceptibility to viral infection MP:0002410 reduced likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus MGI:cwg reduced likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria increased resistance to bacterial infection reduced susceptibility to bacterial infection MPheno.ontology MP:0002411 decreased susceptibility to bacterial infection MP:0002411 reduced likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria MGI:cwg greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria decreased resistance to bacterial infection MPheno.ontology MP:0002412 increased susceptibility to bacterial infection MP:0002412 greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria MGI:cwg any structural anomaly of the progenitor cells of the thrombocytic (platelet) line of cells megakaryoblast abnormalities abnormal CFU-Mk morphology abnormal colony forming unit megakaryocyte morphology abnormal megacaryocyte progenitor cell morphology abnormal megakaryoblast morphology abnormal promegacaryocyte morphology abnormal promegakaryocyte morphology MPheno.ontology abnormal megacaryoblast morphology abnormal megakaryoblast morphology/development MP:0002413 abnormal megakaryocyte progenitor cell morphology MP:0002413 any structural anomaly of the progenitor cells of the thrombocytic (platelet) line of cells MGI:cwg any structural anomaly of the cells found in the bone marrow that give rise to the granulocyte line of blood cells myeloblast abnormalities MPheno.ontology MP:0002414 abnormal myeloblast morphology/development MP:0002414 any structural anomaly of the cells found in the bone marrow that give rise to the granulocyte line of blood cells MGI:cwg atypical production of or inability to produce the granular leukocytes that have a three- to five-lobed nucleus and a cytoplasm that contains inconspicuous granules stainable by neutral dyes abnormal neutrophil development MPheno.ontology MP:0002415 abnormal neutrophil differentiation MP:0002415 atypical production of or inability to produce the granular leukocytes that have a three- to five-lobed nucleus and a cytoplasm that contains inconspicuous granules stainable by neutral dyes MESH:A11.118.637.415.583 MGI:cwg any structural anomaly of the immature, nucleated erythrocyte precursors that give rise to reticulocytes and are derived from erythroid progenitor cells abnormal proerythroblast morphology/development proerythroblast abnormalities MPheno.ontology MP:0002416 abnormal proerythroblast morphology MP:0002416 any structural anomaly of the immature, nucleated erythrocyte precursors that give rise to reticulocytes and are derived from erythroid progenitor cells MESH:A11.148.378.590.249.200 MGI:cwg any structural anomaly of the giant 50 to 100 micron diameter cells with greatly lobulated nuclei found in the bone marrow; mature blood platelets are released from their cytoplasm abnormal megacaryocyte morphology abnormal megalocaryocyte morphology abnormal megalokaryocyte morphology megakaryocyte abnormalities MPheno.ontology MP:0002417 abnormal megakaryocyte morphology MP:0002417 any structural anomaly of the giant 50 to 100 micron diameter cells with greatly lobulated nuclei found in the bone marrow; mature blood platelets are released from their cytoplasm CL:0000556 ISBN:0721601464 greater likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus decreased resistance to viral infection MPheno.ontology MP:0002418 increased susceptibility to viral infection MP:0002418 greater likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus MGI:cwg anomaly in the function of the early phase of the response to infection; normally, it is present at all times, does not increase with exposure to specific pathogens, and does not discriminate between pathogens innate immunity dysfunction natural immunity abnormalities MPheno.ontology MP:0002419 abnormal innate immunity MP:0002419 anomaly in the function of the early phase of the response to infection; normally, it is present at all times, does not increase with exposure to specific pathogens, and does not discriminate between pathogens ISBN:0-8153-1691-7 anomaly in the function of the response of antigen-specific lymphocytes to antigen, including the development of immunological memory acquired immune response dysfunction adaptive immunity dysfunction MPheno.ontology MP:0002420 abnormal adaptive immunity MP:0002420 anomaly in the function of the response of antigen-specific lymphocytes to antigen, including the development of immunological memory ISBN:0-8153-1691-7 MGI:cwg abnormal function of any adaptive immune response in which T cells play a main role cell-mediated immunity dysfunction MPheno.ontology MP:0002421 abnormal cell-mediated immunity MP:0002421 abnormal function of any adaptive immune response in which T cells play a main role ISBN:0-8153-1691-7 MGI:cwg any structural anomaly of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size; these cells contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation basophil abnormalities MPheno.ontology MP:0002422 abnormal basophil morphology MP:0002422 any structural anomaly of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size; these cells contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation CL:0000767 any functional anomaly of the granulated cells found in most tissues and which contain large amounts of histamine and heparin in granules abnormal mast cell function mast cell abnormalities MPheno.ontology MP:0002423 abnormal mast cell physiology MP:0002423 any functional anomaly of the granulated cells found in most tissues and which contain large amounts of histamine and heparin in granules MESH:A11.329.427 any structural anomaly of immature erythrocytes characterized by a meshlike pattern of threads and particles at the former site of the nucleus reticulocyte abnormalities abnormal immature erythrocyte morphology MPheno.ontology abnormal reticulocyte morphology/development MP:0002424 abnormal reticulocyte morphology MP:0002424 any structural anomaly of immature erythrocytes characterized by a meshlike pattern of threads and particles at the former site of the nucleus ISBN:978-0-323-05290-0 a change in the likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides abnormal autoimmune disorder susceptibility abnormal resistance to autoimmune disorder altered susceptibility to autoimmune disorder autoimmune disorders MPheno.ontology MP:0002425 abnormal susceptibility to autoimmune disorder MP:0002425 a change in the likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides MESH:C20.111 OBSOLETE. structural anomalies in the cells, fluids, or proteins found in the blood MPheno.ontology MP:0002426 obsolete blood abnormalities true MP:0002426 OBSOLETE. structural anomalies in the cells, fluids, or proteins found in the blood MGI:cwg abnormally undersized with disproportionate body parts; usually with more significant shortening of the limbs in proportion to the trunk size disproportionate dwarfism MPheno.ontology MP:0002427 In humans, dwarfism is defined as a condition in which the standing height of a person is below the third percentile. disproportionate dwarf MP:0002427 abnormally undersized with disproportionate body parts; usually with more significant shortening of the limbs in proportion to the trunk size ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the organ of balance composed of three long bony tubes of the labyrinth MPheno.ontology MP:0002428 abnormal semicircular canal morphology MP:0002428 any structural anomaly of the organ of balance composed of three long bony tubes of the labyrinth MESH:A09.246.631.663 MGI:cwg any structural anomaly of any of the cells found in the blood or hematopoietic organ MP:0000178 MP:0000205 MP:0001576 MP:0002545 blood cell abnormalities blood cell defects MPheno.ontology MP:0002429 abnormal blood cell morphology/development MP:0002429 any structural anomaly of any of the cells found in the blood or hematopoietic organ MGI:cwg true MP:0002430 true MP:0002431 any structural anomaly of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production abnormal single positive T cell morphology CD4+ T-cell abnormalities abnormal CD4+ T cell morphology abnormal CD4-positive T cell morphology MPheno.ontology MP:0002432 Generally, when immunologists write CD8 positive T cell, what they mean is CD8-positive, alpha-beta T cell (CL:0000625). Similarly, when immunologists write CD4 positive T cell, what they mean is CD4-positive, alpha-beta T cell (CL:0000624). T cells bearing the alpha-beta T cell receptor are the most common in the body, and are the most commonly studied, so much so, that in many published papers, the authors do not even bother to specify (or assume) they are studying alpha-beta T cells and thus omit saying so. abnormal CD4-positive, alpha beta T cell morphology MP:0002432 any structural anomaly of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production MESH:A11.118.637.555.567.569.200 MGI:cwg any structural anomaly of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity T helper 1 abnormalities TH1 abnormalities Th1 abnormalities abnormal T helper 1 morphology abnormal TH1 cell abnormal helper T cell type 1 morphology abnormal helper T lymphocyte type 1 abnormal helper T-cell type 1 abnormal helper T-lymphocyte type 1 MPheno.ontology MP:0002433 abnormal T-helper 1 cell morphology MP:0002433 any structural anomaly of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity CL:0000545 ISBN:0781735149 any structural anomaly of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy T helper 2 abnormalities TH2 abnormalities Th2 abnormalities abnormal T helper 2 morphology abnormal TH2 cell abnormal helper T cell type 2 morphology abnormal helper T lymphocyte type 2 abnormal helper T-cell type 2 abnormal helper T-lymphocyte type 2 MPheno.ontology MP:0002434 abnormal T-helper 2 cell morphology MP:0002434 any structural anomaly of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy CL:0000546 ISBN:0781735149 any structural anomaly of a differentiated T cell with ability to traffic to peripheral tissues and is capable of mounting a specific immune response effector T cell abnormalities effector T-cell abnormalities MPheno.ontology abnormal mature T cell morphology abnormal single positive T cell abnormal single-positive T cell MP:0002435 abnormal effector T cell morphology MP:0002435 any structural anomaly of a differentiated T cell with ability to traffic to peripheral tissues and is capable of mounting a specific immune response CL:0000911 any structural anomaly of a CD8-positive, alpha-beta T cell capable of killing target cells in an antigen specific manner abnormal CTL morphology abnormal cytotoxic T cell morphology abnormal cytotoxic T lymphocyte morphology abnormal cytotoxic T-cell morphology abnormal cytotoxic T-lymphocyte morphology cytotoxic T cell abnormalities cytotoxic T-cell abnormalities CL:0000794 abnormal CD8-positive, alpha-beta cytotoxic T lymphocyte morphology abnormal CD8-positive, alpha-beta cytotoxic T-cell morphology abnormal CD8-positive, alpha-beta cytotoxic T-lymphocyte morphology MPheno.ontology MP:0002436 Note that while T cells of this subset are loosely referred to 'cytotoxic T cells,' as many other T cell types, including CD4-positive, alpha-beta T cells and gamma-delta T cells exhibit cytotoxicity in vitro and in vivo. abnormal CD8-positive, alpha-beta cytotoxic T cell morphology MP:0002436 any structural anomaly of a CD8-positive, alpha-beta T cell capable of killing target cells in an antigen specific manner ISBN:0781735149 true MP:0002437 true MP:0002438 any structural anomaly of a terminally differentiated, post-mitotic, short-lived cell of the B cell lineage devoted to producing large amounts of immunoglobulin abnormal plasmacyte morphology plasma cell abnormalities MPheno.ontology MP:0002439 Plasma cells are terminally differentiated B cells and no longer respond to antigens or helper T cells. In addition, they no longer express surface Ig or surface MHC class II molecules, and they secrete antibody at high rates. abnormal plasma cell morphology MP:0002439 any structural anomaly of a terminally differentiated, post-mitotic, short-lived cell of the B cell lineage devoted to producing large amounts of immunoglobulin CL:0000786 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 any structural anomaly of a distinctly differentiated long-lived B cell that is readily activated upon reencounter of its antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin abnormal memory B lymphocyte abnormal memory B-cell abnormal memory-B lymphocyte memory B cell abnormalities memory B-cell abnormalities MPheno.ontology MP:0002440 abnormal memory B cell morphology MP:0002440 any structural anomaly of a distinctly differentiated long-lived B cell that is readily activated upon reencounter of its antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin CL:0000787 ISBN:0781735149 any structural anomaly of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils granulocyte abnormalities MPheno.ontology MP:0002441 abnormal granulocyte morphology MP:0002441 any structural anomaly of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils MESH:A11.118.637.415 MGI:cwg any functional anomaly of any of the white blood cells (basophils, eosinophils, neutrophils, lymphocytes, or monocytes) abnormal leucocyte physiology leucocyte dysfunction leukocyte dysfunction MPheno.ontology MP:0002442 abnormal leukocyte physiology MP:0002442 any functional anomaly of any of the white blood cells (basophils, eosinophils, neutrophils, lymphocytes, or monocytes) ISBN:0-683-40008-8 MGI:cwg atypical production of or inability to produce the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions eosinophil abnormalities abnormal eosinocyte differentiation abnormal eosinophil development abnormal eosinophilic leucocyte differentiation abnormal eosinophilic leukocyte differentiation abnormal polymorphonuclear leucocyte differentiation abnormal polymorphonuclear leukocyte differentiation MPheno.ontology MP:0002443 abnormal eosinophil differentiation MP:0002443 atypical production of or inability to produce the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions CL:0000771 any functional anomaly of lymphocytes that are responsible for cell-mediated immunity and immune system regulation abnormal T cell function abnormal T lymphocyte function T-cell dysfunction t lymphocyte dysfunction MPheno.ontology MP:0002444 abnormal T cell physiology MP:0002444 any functional anomaly of lymphocytes that are responsible for cell-mediated immunity and immune system regulation https://orcid.org/0000-0003-3691-0324 atypical production of or inability to produce a leukocyte with a single non-segmented nucleus in the mature form abnormal mononuclear leucocyte differentiation abnormal mononuclear leukocyte differentiation mononuclear leucocyte development abnormalities mononuclear leukocyte development abnormalities MPheno.ontology MP:0002445 abnormal mononuclear cell differentiation MP:0002445 atypical production of or inability to produce a leukocyte with a single non-segmented nucleus in the mature form CL:0000842 any structural anomaly of the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells macrophage abnormalities mononuclear phagocyte abnormalities MPheno.ontology MP:0002446 abnormal macrophage morphology MP:0002446 any structural anomaly of the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells CL:0000235 https://orcid.org/0000-0003-3691-0324 any structural anomaly of a mature red blood cell, an ennucleate biconcave disk about 7 micrometers in diameter that contains hemoglobin confined within a lipid membrane; it is the major cellular element of the circulating blood and transports oxygen as its principal function MP:0002124 erythrocyte abnormalities red blood cell abnormalities MGI:2173584 abnormal red blood cell morphology abnormal red corpuscle morphology abnormal definitive erythrocyte MPheno.ontology MP:0002447 abnormal erythrocyte morphology MP:0002447 any structural anomaly of a mature red blood cell, an ennucleate biconcave disk about 7 micrometers in diameter that contains hemoglobin confined within a lipid membrane; it is the major cellular element of the circulating blood and transports oxygen as its principal function ISBN:978-0-323-05290-0 true MP:0002448 true MP:0002449 anomaly in the process of morphological maturation of the organs of the lymph system lymph organ developmental abnormalities MPheno.ontology MP:0002450 abnormal lymph organ development MP:0002450 anomaly in the process of morphological maturation of the organs of the lymph system MGI:cwg any functional anomaly of the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells macrophage dysfunction MPheno.ontology MP:0002451 abnormal macrophage physiology MP:0002451 any functional anomaly of the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells CL:0000235 https://orcid.org/0000-0003-3691-0324 any functional anomaly of a cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response antigen presenting cell dysfunction MPheno.ontology abnormal antigen presenting cell physiology MP:0002452 abnormal professional antigen presenting cell physiology MP:0002452 any functional anomaly of a cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response CL:0000145 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 anomaly in the ability of B lymphocyte to process and/or present antigen B cell antigen presentation abnormalities lymphocyte antigen presentation dysfunction MPheno.ontology MP:0002453 abnormal B lymphocyte antigen presentation MP:0002453 anomaly in the ability of B lymphocyte to process and/or present antigen ISBN:0-8153-1691-7 MGI:cwg anomaly in the ability of macrophage phagocytic cells to process and present antigen to T lymphocytes macrophage antigen presentation dysfunction MPheno.ontology MP:0002454 abnormal macrophage antigen presentation MP:0002454 anomaly in the ability of macrophage phagocytic cells to process and present antigen to T lymphocytes ISBN:0-8153-1691-7 anomaly in the ability of dendritic cells to process and present antigen to T lymphocytes dendritic cell antigen presentation dysfunction MPheno.ontology MP:0002455 abnormal dendritic cell antigen presentation MP:0002455 anomaly in the ability of dendritic cells to process and present antigen to T lymphocytes ISBN:0-8153-1691-7 anomaly in the ability of phagocytic cells of the epidermis to display antigen for recognition by T lymphocytes Langerhans cell antigen presentation dysfunction interdigitating reticular cell antigen presentation dysfunction MPheno.ontology MP:0002456 abnormal Langerhans cell antigen presentation MP:0002456 anomaly in the ability of phagocytic cells of the epidermis to display antigen for recognition by T lymphocytes ISBN:0-8153-1691-7 MGI:cwg true MP:0002457 deviation from the normal count of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity abnormal B lymphocyte number abnormal B-cell number MPheno.ontology MP:0002458 abnormal B cell number MP:0002458 deviation from the normal count of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity ISBN:0803606559 https://orcid.org/0000-0003-4606-0597 any functional anomaly of lymphocytes that expresses membrane-bound antibody, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens B cell dysfunction B lymphocyte dysfunction B lymphocyte functional anomalies B-cell dysfunction MPheno.ontology MP:0002459 abnormal B cell physiology MP:0002459 any functional anomaly of lymphocytes that expresses membrane-bound antibody, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens MGI:cwg https://orcid.org/0000-0003-3691-0324 less than normal immunoglobulin level MP:0001814 decreased immunoglobulin concentration hypogammaglobulinemia reduced immunoglobulin concentration decreased serum level of immunoglobulin MPheno.ontology MP:0002460 decreased immunoglobulin level MP:0002460 less than normal immunoglobulin level MGI:cwg hypogammaglobulinemia https://www.ncbi.nlm.nih.gov/books/NBK563134/ greater than normal immunoglobulin level MP:0001811 hypergammaglobulinemia increased immunoglobulin concentration increased serum level of immunoglobulin MPheno.ontology MP:0002461 increased immunoglobulin level MP:0002461 greater than normal immunoglobulin level MGI:cwg hypergammaglobulinemia https://www.ncbi.nlm.nih.gov/books/NBK585137/ any functional anomaly of neutrophils, eosinophils, or basophils granulocyte dysfunction MPheno.ontology MP:0002462 abnormal granulocyte physiology MP:0002462 any functional anomaly of neutrophils, eosinophils, or basophils MGI:cwg abnormal function of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes abnormal PMN physiology abnormal polymorphonuclear leucocyte physiology abnormal polymorphonuclear leukocyte physiology abnormal polymorphonuclear neutrophil physiology abnormal polynuclear neutrophilic leucocyte physiology abnormal polynuclear neutrophilic leukocyte physiology abnormal neutrocyte physiology abnormal neutrophil leucocyte physiology abnormal neutrophil leukocyte physiology abnormal neutrophilic leucocyte physiology abnormal neutrophilic leukocyte physiology neutrophil dysfunction MPheno.ontology MP:0002463 abnormal neutrophil physiology MP:0002463 abnormal function of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes ISBN:0721601464 any functional anomaly of the leukocyte that contains granules that stain with basic dyes basophil dysfunction MPheno.ontology MP:0002464 abnormal basophil physiology MP:0002464 any functional anomaly of the leukocyte that contains granules that stain with basic dyes ISBN:0-683-40008-8 MGI:cwg any functional anomaly of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions abnormal polymorphonuclear leucocyte physiology abnormal polymorphonuclear leukocyte physiology abnormal eosinocyte physiology abnormal eosinophilic leucocyte physiology abnormal eosinophilic leukocyte physiology eosinophil dysfunction MPheno.ontology MP:0002465 abnormal eosinophil physiology MP:0002465 any functional anomaly of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions CL:0000771 ISBN:0721601464 true MP:0002466 reduced ability of neutrophils to internalize particulate matter MPheno.ontology MP:0002467 impaired neutrophil phagocytosis MP:0002467 reduced ability of neutrophils to internalize particulate matter ISBN:0-8153-1691-7 MGI:cwg OBSOLETE. abnormal function of the set of plasma proteins that act together to attack extracellular pathogens MP:0002471 complement dysfunction MPheno.ontology MP:0002468 obsolete abnormal complement physiology true MP:0002468 OBSOLETE. abnormal function of the set of plasma proteins that act together to attack extracellular pathogens ISBN:0-8153-1691-7 MGI:cwg OBSOLETE. abnormal function of the complement protein, C1 MP:0010215 C1 dysfunction MPheno.ontology MP:0002469 obsolete abnormal C1 physiology true MP:0002469 OBSOLETE. abnormal function of the complement protein, C1 MGI:cwg OBSOLETE. abnormal function of the complement protein, C2 MP:0010215 C2 dysfunction MPheno.ontology MP:0002470 obsolete abnormal C2 physiology true MP:0002470 OBSOLETE. abnormal function of the complement protein, C2 MGI:cwg impaired ability of the complement proteins to act sequentially to directly kill microbes, dispose of immune complexes, and regulate other immune processes GO:0006956 complement cascade dysfunction MPheno.ontology abnormal complement activation abnormal complement cascade abnormal complement response MP:0002471 abnormal complement pathway MP:0002471 impaired ability of the complement proteins to act sequentially to directly kill microbes, dispose of immune complexes, and regulate other immune processes GO:0006956 abnormal function of the plasma protein cascade triggered by direct contact with pathogen surfaces MPheno.ontology MP:0002472 impaired complement alternative pathway MP:0002472 abnormal function of the plasma protein cascade triggered by direct contact with pathogen surfaces ISBN:0-8153-1691-7 MGI:cwg abnormal function of the plasma protein cascade triggered by antigen:antibody complexes MPheno.ontology MP:0002473 impaired complement classical pathway MP:0002473 abnormal function of the plasma protein cascade triggered by antigen:antibody complexes ISBN:0-8153-1691-7 MGI:cwg OBSOLETE. abnormal function of the complement protein, C3 MP:0010215 C3 dysfunction MPheno.ontology MP:0002474 obsolete abnormal C3 physiology true MP:0002474 OBSOLETE. abnormal function of the complement protein, C3 MGI:cwg OBSOLETE. abnormal function of the complement protein, C4 MP:0010215 C4 dysfunction MPheno.ontology MP:0002475 obsolete abnormal C4 physiology true MP:0002475 OBSOLETE. abnormal function of the complement protein, C4 MGI:cwg OBSOLETE. abnormal function of the complement protein, C5 MP:0010215 C5 dysfunction MPheno.ontology MP:0002476 obsolete abnormal C5 physiology true MP:0002476 OBSOLETE. abnormal function of the complement protein, C5 MGI:cwg OBSOLETE. abnormal function of the complement protein, C6 MP:0010215 C6 dysfunction MPheno.ontology MP:0002477 obsolete abnormal C6 physiology true MP:0002477 OBSOLETE. abnormal function of the complement protein, C6 MGI:cwg OBSOLETE. abnormal function of the complement protein, C7 MP:0010215 C7 dysfunction MPheno.ontology MP:0002478 obsolete abnormal C7 physiology true MP:0002478 OBSOLETE. abnormal function of the complement protein, C7 MGI:cwg OBSOLETE. abnormal function of the complement protein, C8 MP:0010215 C8 dysfunction MPheno.ontology MP:0002479 obsolete abnormal C8 physiology true MP:0002479 OBSOLETE. abnormal function of the complement protein, C8 MGI:cwg OBSOLETE. abnormal function of the complement protein, C9 MP:0010215 C9 dysfunction MPheno.ontology MP:0002480 obsolete abnormal C9 physiology true MP:0002480 OBSOLETE. abnormal function of the complement protein, C9 MGI:cwg OBSOLETE. abnormal function of the complement protein, factor B MP:0010215 Bf abnormalities factor B dysfunction MPheno.ontology MP:0002481 obsolete abnormal factor B physiology true MP:0002481 OBSOLETE. abnormal function of the complement protein, factor B MGI:cwg OBSOLETE. abnormal function of the complement protein, factor D MP:0010215 factor D dysfunction MPheno.ontology MP:0002482 obsolete abnormal factor D physiology true MP:0002482 OBSOLETE. abnormal function of the complement protein, factor D MGI:cwg OBSOLETE. functional anomaly in the series of proteins found in the blood shortly after infection and which participate in the early phases of host defense against infection MP:0010211 acute phase protein dysfunction MPheno.ontology MP:0002483 obsolete abnormal acute phase protein physiology true MP:0002483 OBSOLETE. functional anomaly in the series of proteins found in the blood shortly after infection and which participate in the early phases of host defense against infection ISBN:0-8153-1691-7 OBSOLETE. anomaly in the function of this plasma protein that normally circulates in increased amounts during inflammation or after tissue damage MP:0010212 C-reactive protein dysfunction MPheno.ontology MP:0002484 obsolete abnormal C-reactive protein physiology true MP:0002484 OBSOLETE. anomaly in the function of this plasma protein that normally circulates in increased amounts during inflammation or after tissue damage MESH:D12.776.034.145 OBSOLETE. an anomaly in the function of this acute phase protein that normally opsonizes pathogens bearing mannose on their surfaces and can activate the complement system MP:0010211 mannose-binding protein dysfunction MPheno.ontology MP:0002485 obsolete abnormal mannose-binding protein physiology true MP:0002485 OBSOLETE. an anomaly in the function of this acute phase protein that normally opsonizes pathogens bearing mannose on their surfaces and can activate the complement system ISBN:0-8153-1691-7 OBSOLETE. any functional anomaly in an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis MP:0010214 abnormal Serum Amyloid A Protein physiology serum amyloid protein dysfunction MPheno.ontology abnormal SAA protein physiology MP:0002486 obsolete abnormal serum amyloid protein physiology true MP:0002486 OBSOLETE. any functional anomaly in an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis MESH:D12.776.049.790 OBSOLETE. an anomaly in the function of this coaguable protein in the blood plasma MP:0010213 fibrinogen dysfunction MPheno.ontology MP:0002487 obsolete abnormal fibrinogen physiology true MP:0002487 OBSOLETE. an anomaly in the function of this coaguable protein in the blood plasma ISBN:0-683-40008-8 OBSOLETE. anomaly in the ability of these cells to ingest and internalize particulate matter abnormal phagocytic cell physiology phagocytic cell dysfunction MPheno.ontology MP:0002488 obsolete abnormal phagocyte physiology true MP:0002488 OBSOLETE. anomaly in the ability of these cells to ingest and internalize particulate matter MGI:cwg true MP:0002489 deviation from the normal levels of glycoproteins present in the blood and other tissue, often functioning as antibodies MP:0001810 abnormal immunoglobulin concentration abnormal serum immunoglobulin concentration abnormal serum level of immunoglobulin MPheno.ontology MP:0002490 abnormal immunoglobulin level MP:0002490 deviation from the normal levels of glycoproteins present in the blood and other tissue, often functioning as antibodies ISBN:0-683-40008-8 MGI:cwg less than normal immunoglobulin class D level reduced IgD level MPheno.ontology MP:0002491 decreased IgD level MP:0002491 less than normal immunoglobulin class D level MGI:cwg less than normal immunoglobulin class E level reduced IgE level MPheno.ontology MP:0002492 decreased IgE level MP:0002492 less than normal immunoglobulin class E level MGI:cwg greater than normal immunoglobulin class G level MP:0001812 increased serum level of immunoglobulin G MPheno.ontology MP:0002493 increased IgG level MP:0002493 greater than normal immunoglobulin class G level MGI:cwg greater than normal immunoglobulin class M level MP:0001813 increased serum level of immunoglobulin M MPheno.ontology MP:0002494 increased IgM level MP:0002494 greater than normal immunoglobulin class M level MGI:cwg greater than normal immunoglobulin class A level MPheno.ontology MP:0002495 increased IgA level MP:0002495 greater than normal immunoglobulin class A level MGI:cwg greater than normal immunoglobulin class D level MPheno.ontology MP:0002496 increased IgD level MP:0002496 greater than normal immunoglobulin class D level MGI:cwg greater than normal immunoglobulin class E level MPheno.ontology MP:0002497 increased IgE level MP:0002497 greater than normal immunoglobulin class E level MGI:cwg aberrant early and often transient reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response acute inflammation leucocyte infiltration leukocyte infiltration MPheno.ontology MP:0002498 abnormal acute inflammation MP:0002498 aberrant early and often transient reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response ISBN:0-397-51047-0 ISBN:0-8153-1691-7 persistent inflammatory response, often caused by persistent infection or during an autoimmune response MPheno.ontology MP:0002499 Characterized by presence of lymphocytes, plasma cells, and macrophages. chronic inflammation MP:0002499 persistent inflammatory response, often caused by persistent infection or during an autoimmune response ISBN:0-8153-1691-7 chronic inflammation resulting from the failure of the acute inflammatory response and persistence of the injurious agent; characterized by a central area of macrophages, often fused into giant cells, and surrounded by T cells MPheno.ontology MP:0002500 granulomatous inflammation MP:0002500 chronic inflammation resulting from the failure of the acute inflammatory response and persistence of the injurious agent; characterized by a central area of macrophages, often fused into giant cells, and surrounded by T cells ISBN:0-397-51047-0 ISBN:0-8153-1691-7 OBSOLETE. functional anomaly of any of the endogenous compounds that mediate the local accumulation of fluid, plasma proteins, and leukocytes at the site of injury, insult, or infection inflammatory mediators MPheno.ontology MP:0002501 obsolete abnormal inflammatory mediator physiology true MP:0002501 OBSOLETE. functional anomaly of any of the endogenous compounds that mediate the local accumulation of fluid, plasma proteins, and leukocytes at the site of injury, insult, or infection ISBN:0-8153-1691-7 MGI:cwg OBSOLETE. functional anomaly of any of the endogenous compounds that act on the vasculature MPheno.ontology MP:0002502 obsolete abnormal vasoactive mediator physiology true MP:0002502 OBSOLETE. functional anomaly of any of the endogenous compounds that act on the vasculature MGI:cwg any functional anomaly of this amine that is involved in local immune response, in regulating physiological function in the gut, and that acts as a neurotransmitter MPheno.ontology MP:0002503 abnormal histamine physiology MP:0002503 any functional anomaly of this amine that is involved in local immune response, in regulating physiological function in the gut, and that acts as a neurotransmitter https://orcid.org/0009-0005-7755-8314 OBSOLETE. functional anomaly of this biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets; it normally mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity MP:0005322 abnormal 5-HT physiology MPheno.ontology MP:0002504 obsolete abnormal serotonin physiology true MP:0002504 OBSOLETE. functional anomaly of this biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets; it normally mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity ISBN:0-683-40008-8 OBSOLETE. functional anomaly of this potent, short-lived vasoactive peptide that causes arteriolar dilation and increased capillary permeability MP:0009812 MPheno.ontology MP:0002505 obsolete abnormal bradykinin physiology true MP:0002505 OBSOLETE. functional anomaly of this potent, short-lived vasoactive peptide that causes arteriolar dilation and increased capillary permeability ISBN:0-397-51047-0 OBSOLETE. functional anomaly of any of the small fragments of complement proteins released by cleavage during complement activation, they are chemotactic and vasoactive MPheno.ontology MP:0002506 obsolete abnormal anaphylotoxin physiology true MP:0002506 OBSOLETE. functional anomaly of any of the small fragments of complement proteins released by cleavage during complement activation, they are chemotactic and vasoactive ISBN:0-8153-1691-7 OBSOLETE. functional anomaly of complement fragment C4a, which is normally involved in increasing vascular permeability and enhancing smooth muscle contraction MP:0010215 MPheno.ontology MP:0002507 obsolete abnormal C4a physiology true MP:0002507 OBSOLETE. functional anomaly of complement fragment C4a, which is normally involved in increasing vascular permeability and enhancing smooth muscle contraction ISBN:0-397-51047-0 MGI:cwg OBSOLETE. functional anomaly of this product of complement activation that is a potent chemotactic factor for neutrophils, monocytes, and basophils and enhances smooth muscle contraction and vascular permeability MP:0010215 abnormal C5a physiology MPheno.ontology MP:0002508 obsolete abnormal complement 5a physiology true MP:0002508 OBSOLETE. functional anomaly of this product of complement activation that is a potent chemotactic factor for neutrophils, monocytes, and basophils and enhances smooth muscle contraction and vascular permeability ISBN:0-397-51047-0 MGI:cwg OBSOLETE. functional anomaly of complement fragment C3a, which is normally involved in increasing vascular permeability and enhancing smooth muscle contraction MP:0010215 MPheno.ontology MP:0002509 obsolete abnormal C3a physiology true MP:0002509 OBSOLETE. functional anomaly of complement fragment C3a, which is normally involved in increasing vascular permeability and enhancing smooth muscle contraction ISBN:0-397-51047-0 MGI:cwg OBSOLETE. functional anomaly of any of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells MP:0009813 MPheno.ontology MP:0002510 obsolete abnormal leukotriene physiology true MP:0002510 OBSOLETE. functional anomaly of any of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells ISBN:0-397-51047-0 OBSOLETE. any functional anomaly of the conjugation product of leukotriene a4 and glutathione; it is the major arachidonic acid metabolite in macrophages and mast cells as well as in antigen-sensitized lung tissue, and it normally stimulates mucus secretion in the lung, and produces contractions of nonvascular and some vascular smooth muscle MP:0009813 abnormal LTC4 physiology MPheno.ontology MP:0002511 obsolete abnormal leukotriene C4 physiology true MP:0002511 OBSOLETE. any functional anomaly of the conjugation product of leukotriene a4 and glutathione; it is the major arachidonic acid metabolite in macrophages and mast cells as well as in antigen-sensitized lung tissue, and it normally stimulates mucus secretion in the lung, and produces contractions of nonvascular and some vascular smooth muscle http://cancerweb.ncl.ac.uk OBSOLETE. any functional anomaly of a leukotriene c4 derivative generated after partial hydrolysis of the gamma-glutamyl portion of the peptide chain; its biological actions normally include stimulation of vascular and nonvascular smooth muscle, and increases in vascular permeability MP:0009813 abnormal LTD4 physiology MPheno.ontology MP:0002512 obsolete abnormal leukotriene D4 physiology true MP:0002512 OBSOLETE. any functional anomaly of a leukotriene c4 derivative generated after partial hydrolysis of the gamma-glutamyl portion of the peptide chain; its biological actions normally include stimulation of vascular and nonvascular smooth muscle, and increases in vascular permeability http://cancerweb.ncl.ac.uk OBSOLETE. any functional anomaly of a leukotriene d4 derivative generated by a peptidase reaction that removes the glycine residue; its biological actions normally include stimulation of vascular and nonvascular smooth muscle, and increases in vascular permeability MP:0009813 abnormal LTE4 physiology MPheno.ontology MP:0002513 obsolete abnormal leukotriene E4 physiology true MP:0002513 OBSOLETE. any functional anomaly of a leukotriene d4 derivative generated by a peptidase reaction that removes the glycine residue; its biological actions normally include stimulation of vascular and nonvascular smooth muscle, and increases in vascular permeability http://cancerweb.ncl.ac.uk OBSOLETE. functional anomaly of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation MP:0009811 MPheno.ontology MP:0002514 obsolete abnormal prostaglandin physiology true MP:0002514 OBSOLETE. functional anomaly of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation ISBN:0-683-40008-8 OBSOLETE. MP:0009811 prostaglandin D2 MPheno.ontology MP:0002515 obsolete PGD2 true MP:0002515 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. functional anomaly of this member of the prostaglandin family, which normally has vasodilatory effects, increasing vascular permeability MP:0009811 abnormal prostaglandin E2 physiology MPheno.ontology MP:0002516 obsolete abnormal PGE2 physiology true MP:0002516 OBSOLETE. functional anomaly of this member of the prostaglandin family, which normally has vasodilatory effects, increasing vascular permeability ISBN:0-397-51047-0 OBSOLETE. functional anomaly of this member of the prostaglandin family that normally has vasodilatory effects, increasing vascular permeability MP:0009811 abnormal prostacyclin physiology abnormal prostaglandin I2 physiology MPheno.ontology MP:0002517 obsolete abnormal PGI2 physiology true MP:0002517 OBSOLETE. functional anomaly of this member of the prostaglandin family that normally has vasodilatory effects, increasing vascular permeability ISBN:0-397-51047-0 OBSOLETE. functional anomaly of this prostaglandin that normally has vasocontractile, oxytocic, luteolytic, and abortifacient activities MP:0009811 abnormal prostaglandin F2alpha physiology MPheno.ontology MP:0002518 obsolete abnormal PGF2alpha physiology true MP:0002518 OBSOLETE. functional anomaly of this prostaglandin that normally has vasocontractile, oxytocic, luteolytic, and abortifacient activities MGI:cwg OBSOLETE. functional anomaly of any of the members of a family of mediators with vasoactive effects MP:0009818 abnormal TxB2 physiology MPheno.ontology MP:0002519 obsolete abnormal thromboxane physiology true MP:0002519 OBSOLETE. functional anomaly of any of the members of a family of mediators with vasoactive effects MGI:cwg OBSOLETE. functional anomaly of this potent vasoconstrictor that also mediates platelet aggregation MP:0009818 abnormal thromboxane A2 physiology MPheno.ontology MP:0002520 obsolete abnormal TxA2 physiology true MP:0002520 OBSOLETE. functional anomaly of this potent vasoconstrictor that also mediates platelet aggregation ISBN:0-397-51047-0 OBSOLETE. functional anomaly of this mediator generated by nearly all activated inflammatory cells, endothelial cells, and injured tissue cells; normally it is a potent vasodilator and enhances microvasculature permeability, in addition, it induces platelet aggregation and degranulation at sites of injury and enhances the release of serotonin abnormal PAF physiology MPheno.ontology MP:0002521 obsolete abnormal platelet activating factor physiology true MP:0002521 OBSOLETE. functional anomaly of this mediator generated by nearly all activated inflammatory cells, endothelial cells, and injured tissue cells; normally it is a potent vasodilator and enhances microvasculature permeability, in addition, it induces platelet aggregation and degranulation at sites of injury and enhances the release of serotonin ISBN:0-397-51047-0 OBSOLETE. functional anomaly of any of a class of pro-inflammatory proteins that attract and activate leukocytes MPheno.ontology MP:0002522 obsolete abnormal chemotactic factor physiology true MP:0002522 OBSOLETE. functional anomaly of any of a class of pro-inflammatory proteins that attract and activate leukocytes ISBN:0-397-51047-0 MGI:cwg OBSOLETE. functional anomaly of any of a subset of complement fragments that are involved in recruitment of leukocytes to the site of injury chemotactic complement factors MPheno.ontology MP:0002523 obsolete abnormal chemotactic complement factor physiology true MP:0002523 OBSOLETE. functional anomaly of any of a subset of complement fragments that are involved in recruitment of leukocytes to the site of injury ISBN:0-8153-1691-7 MGI:cwg OBSOLETE. MPheno.ontology MP:0002524 obsolete lipoxygenase products true MP:0002524 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. functional anomaly of this product of inflammatory cell activation that is a potent chemoattractant for macrophages and neutrophils MP:0009813 abnormal LTB4 physiology MPheno.ontology MP:0002525 obsolete abnormal leukotriene B4 physiology true MP:0002525 OBSOLETE. functional anomaly of this product of inflammatory cell activation that is a potent chemoattractant for macrophages and neutrophils ISBN:0-397-51047-0 MGI:cwg OBSOLETE. functional anomaly of any of the class of pro-inflammatory cytokines that attract and activate leukocytes MP:0008721 MP:0008722 MP:0010209 MPheno.ontology MP:0002526 obsolete abnormal chemokine physiology true MP:0002526 OBSOLETE. functional anomaly of any of the class of pro-inflammatory cytokines that attract and activate leukocytes MESH:D12.644.276.374.200 MGI:cwg OBSOLETE. functional anomaly of this protein secreted by macrophages and is chemotactic for neutrophils and T cells abnormal IL-8 physiology MPheno.ontology MP:0002527 obsolete abnormal interleukin-8 physiology true MP:0002527 OBSOLETE. functional anomaly of this protein secreted by macrophages and is chemotactic for neutrophils and T cells ISBN:0-8153-1691-7 OBSOLETE. functional anomaly of this soluble factor produced by macrophages/monocytes that activates vascular endothelium and lymphocytes MP:0008589 MP:0008650 abnormal IL-1 physiology MPheno.ontology MP:0002528 This term is obsolete. Instead, use the terms abnormal circulating interleukin-1 level (MP:0008589) and its children or abnormal interleukin-1 secretion (MP:0008650) and its children. obsolete abnormal interleukin-1 physiology true MP:0002528 OBSOLETE. functional anomaly of this soluble factor produced by macrophages/monocytes that activates vascular endothelium and lymphocytes ISBN:0-8153-1691-7 OBSOLETE. functional anomaly of any of the cytokines produced by leukocytes MP:0008568 MP:0008588 abnormal lymphokines physiology MPheno.ontology MP:0002529 obsolete abnormal interleukin physiology true MP:0002529 OBSOLETE. functional anomaly of any of the cytokines produced by leukocytes ISBN:0-8153-1691-7 OBSOLETE. functional anomaly of this cytokine produced by macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium MP:0008556 MP:0008752 abnormal TNF physiology abnormal TNFA physiology abnormal cachectin physiology abnormal tumor necrosis factor alpha physiology MPheno.ontology MP:0002530 This term is obsolete. Instead, use the terms abnormal tumor necrosis factor level (MP:0008752) and its children or abnormal tumor necrosis factor secretion (MP:0008556) and its children. obsolete abnormal tumor necrosis factor physiology true MP:0002530 OBSOLETE. functional anomaly of this cytokine produced by macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium ISBN:0-8153-1691-7 anomaly in a reaction manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks anaphylactic shock anaphylaxis immediate type hypersensitivity MPheno.ontology MP:0002531 Examples: hay fever, asthma, and anaphylaxis. abnormal type I hypersensitivity reaction MP:0002531 anomaly in a reaction manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks ISBN:0-397-51047-0 anomaly in the response caused by an Ag-Ab reaction; antibodies are directly or indirectly cytotoxic to antigens on cell surfaces or in connective tissues; most often involves IgG and IgM; complement activation is usually involved antibody-mediated cellular toxicity cytotoxic type hypersensitivity MPheno.ontology MP:0002532 Examples: autoimmune diseases: autoimmune hemolytic anemias, antibody-dependent cellular cytotoxicity (ADCC), Goodpasture disease, myasthenia gravis, Graves disease, pemphigous, and pemphigoid. abnormal type II hypersensitivity reaction MP:0002532 anomaly in the response caused by an Ag-Ab reaction; antibodies are directly or indirectly cytotoxic to antigens on cell surfaces or in connective tissues; most often involves IgG and IgM; complement activation is usually involved ISBN:0-397-51047-0 anomaly in the tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via Abs encountering circulating Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury immune complex mediated hypersensitivity MPheno.ontology MP:0002533 Examples: Autoimmune diseases: systemic lupus erythmatosus (SLE), rheumatoid arthritis, sjogren syndrome, scleroderma and glomerulonephritis. abnormal type III hypersensitivity reaction MP:0002533 anomaly in the tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via Abs encountering circulating Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury ISBN:0-397-51047-0 anomaly in an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact cell-mediated hypersensitivity contact hypersensitivity delayed type hypersensitivity MPheno.ontology MP:0002534 Examples: granulomatous diseases: tuberculosis, sarcoidosis. contact dermatitis: elicited by poison ivy, detergents, clothing, etc. abnormal type IV hypersensitivity reaction MP:0002534 anomaly in an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact ISBN:0-397-51047-0 OBSOLETE. Use cell-mediated immunity instead. defective or absent host defense involving both B and T cells MP:0002421 combined T-cell/B-cell deficiency MPheno.ontology MP:0002535 obsolete combined T cell/ B cell deficiency true MP:0002535 OBSOLETE. Use cell-mediated immunity instead. defective or absent host defense involving both B and T cells MGI:cwg OBSOLETE. rare congenital disorder characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels SCID MPheno.ontology MP:0002536 This is a disease term. obsolete severe combined immunodeficiency disease true MP:0002536 true MP:0002537 OBSOLETE. congenital syndrome with absence of thymus and parathyroids, causing impaired cellular immunity; immunoglobulin levels are normal MPheno.ontology MP:0002538 this is a disease term, not a phenotype term obsolete Di George syndrome true MP:0002538 OBSOLETE. defective or absent host defense involving B cells MP:0008071 B-cell deficiency deficiency of antibody immunity MPheno.ontology MP:0002539 obsolete B cell deficiency true MP:0002539 OBSOLETE. defective or absent host defense involving B cells ISBN:0-8153-1691-7 MGI:cwg OBSOLETE. an immunologic deficiency state characterized by very low level of generally all classes of gamma-immunoglobulins MPheno.ontology MP:0002540 obsolete congenital X-linked infantile hypogammaglobulinemia true MP:0002540 OBSOLETE. an immunologic deficiency state characterized by very low level of generally all classes of gamma-immunoglobulins MGI:cwg OBSOLETE. an immunologic deficiency state characterized by very low levels of the immunoglobulin class A MP:0001807 MPheno.ontology MP:0002541 obsolete selective IgA deficiency true MP:0002541 OBSOLETE. an immunologic deficiency state characterized by very low levels of the immunoglobulin class A MGI:cwg true MP:0002542 abnormally short phalanges short phalanges MPheno.ontology MP:0002543 brachyphalangia MP:0002543 abnormally short phalanges ISBN:0-683-40008-8 abnormally short digits short digits short fingers short toes MPheno.ontology MP:0002544 brachydactyly MP:0002544 abnormally short digits ISBN:0-683-40008-8 true MP:0002545 increased diameter of one or both central circular aperture of the iris through which light rays enter the eye MP:0001321 MP:0002860 dilated pupil dilated pupils enlarged pupil enlarged pupils increased pupil size large pupil large pupils pupil dilation MPheno.ontology MP:0002546 mydriasis MP:0002546 increased diameter of one or both central circular aperture of the iris through which light rays enter the eye ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0002547 true MP:0002548 true MP:0002549 true MP:0002550 altered ability or inability of the blood to clot MP:0000210 MP:0001582 MGI:2173585 abnormal clotting haematology: abnormal blood coagulation hematology: abnormal blood coagulation MPheno.ontology coagulopathy MP:0002551 abnormal blood coagulation MP:0002551 altered ability or inability of the blood to clot https://orcid.org/0000-0003-3691-0324 OBSOLETE. aberrant behavioral or physiological reaction to an addictive substance MP:0009748 MPheno.ontology MP:0002552 obsolete abnormal response to addictive substance true MP:0002552 OBSOLETE. aberrant behavioral or physiological reaction to an addictive substance https://orcid.org/0000-0003-3691-0324 strong predilection for an addictive substance MPheno.ontology MP:0002553 preference for addictive substance MP:0002553 strong predilection for an addictive substance https://orcid.org/0000-0003-3691-0324 purposeful avoidance of an addictive substance due to dislike MPheno.ontology MP:0002554 aversion to addictive substance MP:0002554 purposeful avoidance of an addictive substance due to dislike https://orcid.org/0000-0003-3691-0324 strong dependence on an addictive compound such as alcohol or narcotics that results in uncontrollable cravings for such compounds MPheno.ontology MP:0002555 addiction MP:0002555 strong dependence on an addictive compound such as alcohol or narcotics that results in uncontrollable cravings for such compounds https://orcid.org/0000-0003-3691-0324 aberrant behavioral-related or physiological-related intake of cocaine into the body MP:0002569 cocaine consumption MPheno.ontology MP:0002556 abnormal cocaine consumption MP:0002556 aberrant behavioral-related or physiological-related intake of cocaine into the body https://orcid.org/0000-0003-3691-0324 deviation of the normal behavior of animals towards each other MP:0001351 abnormal social behavior abnormal social behaviour abnormal socialization neurological/behavioral: social/conspecific interaction anomalies neurological/behavioural: social/conspecific interaction anomalies MPheno.ontology MP:0002557 abnormal social/conspecific interaction behavior MP:0002557 deviation of the normal behavior of animals towards each other https://orcid.org/0000-0003-3691-0324 any change in the cycle length expressed when exposed to constant conditions without temporal cues MPheno.ontology MP:0002558 'has part' some (duration and ('inheres in' some 'circadian rhythm') and ('has modifier' some abnormal)) obsolete abnormal circadian period true MP:0002558 any change in the cycle length expressed when exposed to constant conditions without temporal cues MGI:CFG anomaly in the ability for an animal to retain a circadian rhythm when time cues are removed MPheno.ontology MP:0002559 'has part' some (persistence and ('inheres in' some 'circadian rhythm') and ('has modifier' some abnormal)) obsolete abnormal circadian persistence true MP:0002559 anomaly in the ability for an animal to retain a circadian rhythm when time cues are removed MGI:CFG loss of any rhythmic pattern upon removal of time cues MPheno.ontology MP:0002560 'has part' some (arrhythmic and ('inheres in' some 'circadian rhythm') and ('has modifier' some abnormal)) obsolete arrhythmic circadian persistence true MP:0002560 loss of any rhythmic pattern upon removal of time cues MGI:CFG anomaly in the phase relationship between a temporal synchronizing event (such as light cycle) and a phase reference point of an animal (such as activity onset) MPheno.ontology MP:0002561 'has part' some (phase and ('inheres in' some 'circadian rhythm') and ('has modifier' some abnormal)) obsolete abnormal circadian phase true MP:0002561 anomaly in the phase relationship between a temporal synchronizing event (such as light cycle) and a phase reference point of an animal (such as activity onset) MGI:CFG increase in the cycle length expressed when exposed to constant conditions without temporal cues MPheno.ontology MP:0002562 'has part' some ('increased duration' and ('inheres in' some 'circadian rhythm') and ('has modifier' some abnormal)) obsolete prolonged circadian period true MP:0002562 increase in the cycle length expressed when exposed to constant conditions without temporal cues MGI:CFG decrease in the cycle length expressed when exposed to constant conditions without temporal cues MPheno.ontology MP:0002563 'has part' some ('decreased duration' and ('inheres in' some 'circadian rhythm') and ('has modifier' some abnormal)) obsolete shortened circadian period true MP:0002563 decrease in the cycle length expressed when exposed to constant conditions without temporal cues MGI:CFG increase in the phase relationship between a temporal synchronizing event (such as light cycle) and a phase reference point of an animal (such as activity onset) decreased circadian phase delay MPheno.ontology MP:0002564 'has part' some ('advanced phase' and ('inheres in' some 'circadian rhythm') and ('has modifier' some abnormal)) obsolete advanced circadian phase true MP:0002564 increase in the phase relationship between a temporal synchronizing event (such as light cycle) and a phase reference point of an animal (such as activity onset) MGI:CFG decrease in the phase relationship between a temporal synchronizing event (such as light cycle) and a phase reference point of an animal (such as activity onset) increased circadian phase delay MPheno.ontology MP:0002565 'has part' some ('delayed phase' and ('inheres in' some 'circadian rhythm') and ('has modifier' some abnormal)) obsolete delayed circadian phase true MP:0002565 decrease in the phase relationship between a temporal synchronizing event (such as light cycle) and a phase reference point of an animal (such as activity onset) MGI:CFG altered initiation, failure of initiation or incomplete mating behavior MP:0001369 MP:0001370 MP:0001374 abnormal breeding abnormal breeding/mating abnormal mating MPheno.ontology abnormal mating behavior abnormal mating behaviour MP:0002566 abnormal sexual interaction MP:0002566 altered initiation, failure of initiation or incomplete mating behavior https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002567 obsolete abnormal odor preference true MP:0002567 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. neurological/behavioral: addiction/drug abuse MPheno.ontology MP:0002568 obsolete addiction/drug abuse true MP:0002568 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0002569 purposeful avoidance of alcohol due to dislike ethanol aversion MPheno.ontology MP:0002570 alcohol aversion MP:0002570 purposeful avoidance of alcohol due to dislike https://orcid.org/0000-0003-3691-0324 a degenerative state of brain function manifesting in an impairment of memory, judgment, attention span, problem solving skills, the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function, and a global loss of cognitive abilities MPheno.ontology MP:0002571 senility MP:0002571 a degenerative state of brain function manifesting in an impairment of memory, judgment, attention span, problem solving skills, the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function, and a global loss of cognitive abilities https://orcid.org/0000-0003-3691-0324 altered response in tests for emotional related behaviors abnormal emotion/affect behaviour neurological/behavioral: emotion/affect abnormalities neurological/behavioural: emotion/affect abnormalities MPheno.ontology MP:0002572 abnormal emotion/affect behavior MP:0002572 altered response in tests for emotional related behaviors https://orcid.org/0000-0003-3691-0324 depression assayed by reduced escape attempts and/or immobility when placed in a stressful situation such as a forced swim test or a suspension test; or failure to seek pleasurable stimuli behavioural despair MPheno.ontology MP:0002573 behavioral despair MP:0002573 depression assayed by reduced escape attempts and/or immobility when placed in a stressful situation such as a forced swim test or a suspension test; or failure to seek pleasurable stimuli PMID:11875023 greater than average time spent jumping or rearing increased rearing increased reconnoitering behavior increased reconnoitering behaviour MPheno.ontology MP:0002574 increased vertical activity MP:0002574 greater than average time spent jumping or rearing MGI:cwg greater than the normal amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acetone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus elevated circulating ketone body level hyperketonaemia hyperketonemia elevated plasma ketone body level elevated serum ketone body level MPheno.ontology MP:0002575 Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in equilibrium with acetoacetate. increased circulating ketone body level MP:0002575 greater than the normal amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acetone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus ISBN:0-683-40008-8 any structural anomaly of the hard outer coating of the exposed portion of the tooth enamel dysplasia MPheno.ontology MP:0002576 abnormal enamel morphology MP:0002576 any structural anomaly of the hard outer coating of the exposed portion of the tooth ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 thin hard coating of the exposed portion of the tooth MPheno.ontology MP:0002577 reduced enamel thickness MP:0002577 thin hard coating of the exposed portion of the tooth https://orcid.org/0000-0003-3691-0324 anomaly resulting in reduced changes in membrane potentials occurring in nerve or other excitable tissue when excitation occurs MPheno.ontology MP:0002578 impaired ability to fire action potentials MP:0002578 anomaly resulting in reduced changes in membrane potentials occurring in nerve or other excitable tissue when excitation occurs J:51377 https://orcid.org/0000-0003-3691-0324 deformation or misalignment of the elongated cells that form the crystalline lens disorganised secondary lens fibres MPheno.ontology MP:0002579 disorganized secondary lens fibers MP:0002579 deformation or misalignment of the elongated cells that form the crystalline lens ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 focal pathological changes characterized by alteration in the size, shape and organization of the cellular components of the duodenum epithelium tissue MPheno.ontology MP:0002580 duodenal lesions MP:0002580 focal pathological changes characterized by alteration in the size, shape and organization of the cellular components of the duodenum epithelium tissue https://orcid.org/0000-0003-3691-0324 any structural anomaly of the portion of the small intestine that extends from the jejunum to the colon ileum dysplasia MPheno.ontology MP:0002581 abnormal ileum morphology MP:0002581 any structural anomaly of the portion of the small intestine that extends from the jejunum to the colon ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 a lack of the regular arrangement of the membranes involved with the embryo's protection and nutrition disorganised extraembryonic tissue MPheno.ontology MP:0002582 disorganized extraembryonic tissue MP:0002582 a lack of the regular arrangement of the membranes involved with the embryo's protection and nutrition J:40596 https://orcid.org/0000-0003-3691-0324 absence of the endoderm layer of the extraembryonic tissue absence of extraembryonic ectoderm MPheno.ontology MP:0002583 absent extraembryonic ectoderm MP:0002583 absence of the endoderm layer of the extraembryonic tissue https://orcid.org/0000-0003-3691-0324 reduced size of the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta small epamniotic cone MPheno.ontology MP:0002584 small ectoplacental cone MP:0002584 reduced size of the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta MGI:cwg OBSOLETE. altered ability or inability to metabolize or respond to foreign substances MP:0008872 MP:0008875 abnormal metabolism of xenobiotics MPheno.ontology MP:0002585 This term has been rendered obsolete. Please use instead the terms abnormal pharmacogenetics of xenobiotics (MP:0008875) or abnormal response to xenobiotics (MP:0008872). obsolete abnormal response/metabolism to xenobiotics true MP:0002585 OBSOLETE. altered ability or inability to metabolize or respond to foreign substances MGI:cwg https://orcid.org/0000-0003-3691-0324 anomaly in the content of platelet cells over normal MPheno.ontology MP:0002586 abnormal platelet volume MP:0002586 anomaly in the content of platelet cells over normal MGI:cml OBSOLETE. MPheno.ontology MP:0002587 obsolete heart/cardiovascular system: characteristics true MP:0002587 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002588 obsolete blood cell characteristics true MP:0002588 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002589 obsolete mean corpuscular volume traits true MP:0002589 OBSOLETE. https://orcid.org/0000-0003-3691-0324 greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices high MCV high mean corpuscular volume increased MCV MPheno.ontology MP:0002590 increased mean corpuscular volume MP:0002590 greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices ISBN:0-683-40008-8 MGI:cwg less than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices decreased MCV low MCV low mean corpuscular volume reduced mean corpuscular volume MPheno.ontology MP:0002591 decreased mean corpuscular volume MP:0002591 less than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices ISBN:0-683-40008-8 MGI:cwg OBSOLETE. mean red blood cell traits MPheno.ontology MP:0002592 obsolete mean erythrocyte count traits true MP:0002592 OBSOLETE. https://orcid.org/0000-0003-3691-0324 greater than average numbers of red blood cells high mean RBC count high mean RBC number high mean erythrocyte count high mean red blood cell count high mean red blood cell number MPheno.ontology MP:0002593 high mean erythrocyte cell number MP:0002593 greater than average numbers of red blood cells MGI:cwg less than average numbers of red blood cells low mean RBC count low mean erythrocyte count low mean red blood cell count low mean red blood cell number MPheno.ontology MP:0002594 low mean erythrocyte cell number MP:0002594 less than average numbers of red blood cells MGI:cwg true MP:0002595 greater or less than the average percentage of a volume of a blood sample occupied by red blood cells MP:0000206 MP:0001578 abnormal haematocrit MPheno.ontology MP:0002596 abnormal hematocrit MP:0002596 greater or less than the average percentage of a volume of a blood sample occupied by red blood cells MESH:E01.450.375.400 OBSOLETE. MPheno.ontology MP:0002597 obsolete platelet traits true MP:0002597 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002598 obsolete mean platelet volume traits true MP:0002598 OBSOLETE. https://orcid.org/0000-0003-3691-0324 increased average content of platelet cells over normal increased platelet size large platelet size large platelets high mean platelet volume increased MPV MPheno.ontology MP:0002599 increased mean platelet volume MP:0002599 increased average content of platelet cells over normal MGI:cml large platelets HP:0011877 OBSOLETE. MPheno.ontology MP:0002600 obsolete mean leukocyte count traits true MP:0002600 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002601 obsolete lymphocyte count traits true MP:0002601 OBSOLETE. https://orcid.org/0000-0003-3691-0324 deviation from the normal numbers of eosinophils abnormal eosinophil count eosinophil count traits MPheno.ontology MP:0002602 abnormal eosinophil cell number MP:0002602 deviation from the normal numbers of eosinophils MGI:cwg OBSOLETE. MPheno.ontology MP:0002603 obsolete basophil count traits true MP:0002603 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002604 obsolete neutrophil count traits true MP:0002604 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002605 obsolete monocyte count traits true MP:0002605 OBSOLETE. https://orcid.org/0000-0003-3691-0324 higher than average number of basophils as measured by the percent of the total number of leukocytes high basophil count increased basophil count increased basophil number MPheno.ontology MP:0002606 increased basophil cell number MP:0002606 higher than average number of basophils as measured by the percent of the total number of leukocytes CL:0000767 MPD:Mouse_Phenome_Database https://orcid.org/0000-0003-3691-0324 lower than average number of basophils as measured by the percent of the total number of leukocytes decreased basophil count decreased basophil number low basophil count reduced basophil cell number MPheno.ontology MP:0002607 decreased basophil cell number MP:0002607 lower than average number of basophils as measured by the percent of the total number of leukocytes CL:0000767 MPD:Mouse_Phenome_Database https://orcid.org/0000-0003-3691-0324 greater than average percentage of a volume of a blood sample occupied by red blood cells MP:0000207 MP:0001579 increased haematocrit MPheno.ontology MP:0002608 increased hematocrit MP:0002608 greater than average percentage of a volume of a blood sample occupied by red blood cells ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002609 obsolete blood physiology traits true MP:0002609 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002610 obsolete blood chemistry traits true MP:0002610 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002611 obsolete glucose homeostasis traits true MP:0002611 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0002612 true MP:0002613 OBSOLETE. MPheno.ontology MP:0002614 obsolete lipid homeostasis traits true MP:0002614 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0002615 true MP:0002616 true MP:0002617 true MP:0002618 any structural anomaly of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells MP:0005063 lymphocyte abnormalities lymphocyte structural abnormalities MPheno.ontology MP:0002619 abnormal lymphocyte morphology MP:0002619 any structural anomaly of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells https://orcid.org/0000-0003-3691-0324 any structural anomaly of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood monocyte abnormalities MPheno.ontology MP:0002620 abnormal monocyte morphology MP:0002620 any structural anomaly of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood CL:0000576 https://orcid.org/0000-0003-3691-0324 delay in the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline MPheno.ontology MP:0002621 delayed neural tube closure MP:0002621 delay in the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline J:79790 MGI:cml any structural anomaly of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve abnormal cochlea auditory hair cell morphology MPheno.ontology MP:0002622 abnormal cochlear hair cell morphology MP:0002622 any structural anomaly of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 any structural anomaly of the mechanoreceptor cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear; afferent and efferent nerve fibers of the vestibular nerve end synaptically on them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the statoconial membrane of the maculae and the cupula of the cristae abnormal vestibular hair cells morphology MPheno.ontology MP:0002623 abnormal vestibular hair cell morphology MP:0002623 any structural anomaly of the mechanoreceptor cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear; afferent and efferent nerve fibers of the vestibular nerve end synaptically on them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the statoconial membrane of the maculae and the cupula of the cristae ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the valve that is located between the right atrium and the right ventricle of the heart, and contains three cusps, the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp), attached to the outer fibrous ring (annulus) abnormal right AV valve morphology abnormal right atrioventricular valve morphology abnormal tricuspid valvar morphology tricuspid valvar dysplasia tricuspid valve dysplasia MPheno.ontology MP:0002624 abnormal tricuspid valve morphology MP:0002624 any structural anomaly of the valve that is located between the right atrium and the right ventricle of the heart, and contains three cusps, the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp), attached to the outer fibrous ring (annulus) ISBN:0-683-40008-8 MESH:A07.541.510.893 abnormal right atrioventricular valve morphology UBERON:0002134 https://orcid.org/0000-0002-6490-7723 enlargement of heart left ventricular wall and septum from the increase in size of its cells Fyler:3608 hypertrophic left ventricle left ventricle hypertrophy left ventricular hypertrophy MPheno.ontology MP:0002625 heart left ventricle hypertrophy MP:0002625 enlargement of heart left ventricular wall and septum from the increase in size of its cells https://orcid.org/0000-0003-4606-0597 greater than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute tachycardia MPheno.ontology MP:0002626 increased heart rate MP:0002626 greater than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute https://orcid.org/0000-0002-0371-1954 higher than normal incidence of generally benign germ cell-derived tumors of male or female containing derivatives from all three germ layers with differentiation in the malignant form being poor; malignant tumors are highly metatstatic MPheno.ontology teratoma MP:0002627 increased teratoma incidence MP:0002627 higher than normal incidence of generally benign germ cell-derived tumors of male or female containing derivatives from all three germ layers with differentiation in the malignant form being poor; malignant tumors are highly metatstatic MPATH:322 an accumulation of fat deposits in the liver fatty liver hepatosteatosis liver adiposis liver steatosis MPheno.ontology hepatic lipidosis MP:0002628 hepatic steatosis MP:0002628 an accumulation of fat deposits in the liver https://orcid.org/0000-0002-0371-1954 increased activity after ingestion of alcohol hyperactivity elicited by alcohol administration MPheno.ontology MP:0002629 hyperactivity elicited by ethanol administration MP:0002629 increased activity after ingestion of alcohol MGI:Nmice any alterations in the electrical potential difference (+80 - 100 mV) between the endolymphatic and perilymphatic compartments of the cochlea; this potential is generated by the stria vascularis abnormal EP abnormal endolymphatic potential MPheno.ontology MP:0002630 abnormal endocochlear potential MP:0002630 any alterations in the electrical potential difference (+80 - 100 mV) between the endolymphatic and perilymphatic compartments of the cochlea; this potential is generated by the stria vascularis J:80917 https://orcid.org/0000-0002-0371-1954 any structural anomaly of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens abnormal parorchis morphology epididymis dysplasia MPheno.ontology MP:0002631 abnormal epididymis morphology MP:0002631 any structural anomaly of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens https://orcid.org/0000-0002-0371-1954 a trace or rudimentary caudal structure, often a short boneless filament; the degenerated remains of any tail structure MPheno.ontology MP:0002632 vestigial tail MP:0002632 a trace or rudimentary caudal structure, often a short boneless filament; the degenerated remains of any tail structure ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development Fyler:0500 Fyler:500 PTA common arterial trunk persistent truncus arteriosis single outflow tract truncus arteriosis truncus arteriosus MPheno.ontology MP:0002633 persistent truncus arteriosus MP:0002633 complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 malfunction of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI) MPheno.ontology MP:0002634 abnormal sensorimotor gating MP:0002634 malfunction of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI) J:42758 https://orcid.org/0000-0002-0371-1954 attenuation of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI) impaired sensorimotor gating MPheno.ontology MP:0002635 reduced sensorimotor gating MP:0002635 attenuation of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI) https://orcid.org/0000-0002-0371-1954 the opening of the genital canal in a female occurs at a later than expected age delayed vaginal opening time late onset of vaginal opening MPheno.ontology MP:0002636 delayed vaginal opening MP:0002636 the opening of the genital canal in a female occurs at a later than expected age MGI:cwg reduced size of the female muscular organ of gestation decreased uterine size decreased uterus size reduced uterine size reduced uterus size small metra MPheno.ontology MP:0002637 small uterus MP:0002637 reduced size of the female muscular organ of gestation https://orcid.org/0000-0003-3691-0324 alterations or failure of the pupil to change in diameter as a reflex response to any stimulus MPheno.ontology MP:0002638 abnormal pupillary reflex MP:0002638 alterations or failure of the pupil to change in diameter as a reflex response to any stimulus ISBN:0-683-40008-8 MGI:cml abnormally reduced size of the jaws, especially of the mandible Fyler:4163 decreased jaw size micrognathism brachygnathia brachygnathism mandibular hypoplasia MPheno.ontology MP:0002639 micrognathia MP:0002639 abnormally reduced size of the jaws, especially of the mandible ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 an increase in the number of circulating reticulocytes, which is normally less than 1 per cent of the total number of red blood cells elevated reticulocyte number increased immature erythrocyte number increased reticulocyte number MPheno.ontology MP:0002640 reticulocytosis MP:0002640 an increase in the number of circulating reticulocytes, which is normally less than 1 per cent of the total number of red blood cells ISBN:0-683-40008-8 presence in blood of RBCs of abnormal shapes and sizes MPheno.ontology MP:0002641 anisopoikilocytosis MP:0002641 presence in blood of RBCs of abnormal shapes and sizes J:78271 MGI:cwg considerable variation of the size of red blood cells compared to a normal range MP:0000246 MP:0001609 MPheno.ontology MP:0002642 anisocytosis MP:0002642 considerable variation of the size of red blood cells compared to a normal range ISBN:0-683-40008-8 blood cells of variable shape on smear MPheno.ontology MP:0002643 poikilocytosis MP:0002643 blood cells of variable shape on smear J:7209 MGI:cwg reduced concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver MP:0005143 reduced circulating triglyceride level low plasma triacylglycerol level low plasma triglyceride level low serum triacylglycerol level low serum triglyceride level MPheno.ontology MP:0002644 decreased circulating triglyceride level MP:0002644 reduced concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver https://orcid.org/0000-0003-3691-0324 any anomaly in the ability of the body to take up cholesterol into the blood by absorption from the small intestine MPheno.ontology MP:0002645 abnormal intestinal cholesterol absorption MP:0002645 any anomaly in the ability of the body to take up cholesterol into the blood by absorption from the small intestine GO:0030299 ISBN:0-683-40008-8 augmented ability of the body to take up cholesterol into the blood by absorption from the small intestine MPheno.ontology increased cholesterol absorption MP:0002646 increased intestinal cholesterol absorption MP:0002646 augmented ability of the body to take up cholesterol into the blood by absorption from the small intestine GO:0030299 ISBN:0-683-40008-8 reduced ability of the body to take up cholesterol into the blood by absorption from the small intestine reduced intestinal cholesterol absorption MPheno.ontology decreased cholesterol absorption reduced cholesterol absorption MP:0002647 decreased intestinal cholesterol absorption MP:0002647 reduced ability of the body to take up cholesterol into the blood by absorption from the small intestine GO:0030299 ISBN:0-683-40008-8 separation of the hard outer coating of the exposed portion of the tooth from the underlying hard tissue MPheno.ontology MP:0002648 delaminated enamel MP:0002648 separation of the hard outer coating of the exposed portion of the tooth from the underlying hard tissue ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any anomaly in the orientation of the structural unit of tooth enamel MPheno.ontology MP:0002649 abnormal enamel rod pattern MP:0002649 any anomaly in the orientation of the structural unit of tooth enamel ISBN:0-683-40008-8 any structural anomaly of the tall, columnar, polarized epithelial cell in the innermost layer of the enamel organ (inner enamel epithelium) of a developing tooth, involved with the formation of enamel matrix abnormal ameloblast cell morphology abnormal enamel secreting cell morphology MPheno.ontology MP:0002650 abnormal ameloblast morphology MP:0002650 any structural anomaly of the tall, columnar, polarized epithelial cell in the innermost layer of the enamel organ (inner enamel epithelium) of a developing tooth, involved with the formation of enamel matrix PMID:19090561 https://medical-dictionary.thefreedictionary.com/ameloblast any structural anomaly of the nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity MPheno.ontology MP:0002651 abnormal sciatic nerve morphology MP:0002651 any structural anomaly of the nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity MESH:A08.800.800.720.450.760 reduced thickness of the cardiac muscle layer MPheno.ontology thin myocardial wall MP:0002652 thin myocardium MP:0002652 reduced thickness of the cardiac muscle layer ISBN:0-683-40008-8 any structural anomaly of the cellular membrane that lines the brain ventricles and the central canal of the spinal cord abnormal ependyma ependyma dysplasia MPheno.ontology MP:0002653 abnormal ependyma morphology MP:0002653 any structural anomaly of the cellular membrane that lines the brain ventricles and the central canal of the spinal cord ISBN:0-683-40008-8 MGI:il a neurodegenerative state characterized by the appearance of large vacuolated areas in the brain cells, resembling a sponge spongiform degeneration MPheno.ontology MP:0002654 spongiform encephalopathy MP:0002654 a neurodegenerative state characterized by the appearance of large vacuolated areas in the brain cells, resembling a sponge https://orcid.org/0000-0003-3691-0324 any structural anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum MPheno.ontology MP:0002655 abnormal keratinocyte morphology MP:0002655 any structural anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum ISBN:0-683-40008-8 developmental anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum MPheno.ontology MP:0002656 abnormal keratinocyte differentiation MP:0002656 developmental anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum ISBN:0-683-40008-8 abnormal development of the cartilage primordia of long bones, resulting in abnormally short extremities but normal head and trunk MPheno.ontology chondrodysplasia MP:0002657 chondrodystrophy MP:0002657 abnormal development of the cartilage primordia of long bones, resulting in abnormally short extremities but normal head and trunk MGI:il anomaly in the renewal, repair, and/or regrowth of liver tissue following injury or disease abnormal hepatic regeneration MPheno.ontology MP:0002658 abnormal liver regeneration MP:0002658 anomaly in the renewal, repair, and/or regrowth of liver tissue following injury or disease https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the pituitary, typically resulting in decreased size MPheno.ontology hypoplastic pituitary pituitary hypoplasia MP:0002659 pituitary gland hypoplasia MP:0002659 decrease in the number of normal cells in normal arrangement in the pituitary, typically resulting in decreased size ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 any structural anomaly of the head of the epididymis MPheno.ontology MP:0002660 abnormal caput epididymis morphology MP:0002660 any structural anomaly of the head of the epididymis ISBN:0-683-40008-8 any structural anomaly of the body of the epididymis MPheno.ontology MP:0002661 abnormal corpus epididymis morphology MP:0002661 any structural anomaly of the body of the epididymis ISBN:0-683-40008-8 any structural anomaly of the tail of the epididymis MPheno.ontology MP:0002662 abnormal cauda epididymis morphology MP:0002662 any structural anomaly of the tail of the epididymis ISBN:0-683-40008-8 developmental anomaly resulting in the absence of the cavity in the blastocyst of the developing embryo abnormal cavitation absent blastocoel cavity failure to cavitate failure to form blastocele failure to form blastocyst cavity MPheno.ontology MP:0002663 absent blastocoele MP:0002663 developmental anomaly resulting in the absence of the cavity in the blastocyst of the developing embryo ISBN:0-683-40008-8 MGI:cwg decreased concentration in the blood of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex reduced circulating adrenocorticotropin level decreased serum levels of ACTH decreased serum levels of adrenocorticotropic hormone decreased serum levels of adrenocorticotropin decreased serum levels of adrenotropic hormone decreased serum levels of adrenotropin MPheno.ontology MP:0002664 decreased circulating adrenocorticotropin level MP:0002664 decreased concentration in the blood of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex ISBN:0-683-40008-8 less than the normal blood amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion hypocorticosteronaemia hypocorticosteronemia reduced circulating corticosterone level decreased serum levels of corticosterone MPheno.ontology MP:0002665 decreased circulating corticosterone level MP:0002665 less than the normal blood amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion ISBN:0-683-40008-8 increased in the blood concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule alsosteronism hyperaldosteronism elevated serum levels of aldosterone increased plasma aldosterone MPheno.ontology MP:0002666 increased circulating aldosterone level MP:0002666 increased in the blood concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 decreased in the blood concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule hypoaldosteronism reduced circulating aldosterone level decreased serum aldosterone level decreased serum levels of aldosterone MPheno.ontology MP:0002667 decreased circulating aldosterone level MP:0002667 decreased in the blood concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 anomalous concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle abnormal blood potassium level MPheno.ontology MP:0002668 abnormal circulating potassium level MP:0002668 anomalous concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle MGI:cwg any structural anomaly of the external sac of skin that encloses the testes abnormality of the scrotum scrotum dysplasia MPheno.ontology MP:0002669 abnormal scrotum morphology MP:0002669 any structural anomaly of the external sac of skin that encloses the testes ISBN:0-683-40008-8 missing the external sac of skin that encloses the testes absence of scrotum MPheno.ontology MP:0002670 absent scrotum MP:0002670 missing the external sac of skin that encloses the testes ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 the appearance of a stripe of white fur around the circumference of the abdomen MPheno.ontology MP:0002671 belted MP:0002671 the appearance of a stripe of white fur around the circumference of the abdomen https://orcid.org/0000-0003-3691-0324 any structural anomaly of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels MP:0001617 MP:0001618 abnormal PAA abnormal aortic arches abnormal branchial arch arteries abnormal branchial arch artery morphology abnormal embryonic aortic arch artery morphology MPheno.ontology abnormal embryonic aortic arch arteries MP:0002672 Do not confuse embryonic aortic arches with the adult aortic arch (MP:0004113). abnormal pharyngeal arch artery morphology MP:0002672 any structural anomaly of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels MGI:cwg increased or decreased numbers of spermatozoa abnormal sperm count MPheno.ontology MP:0002673 abnormal sperm number MP:0002673 increased or decreased numbers of spermatozoa https://orcid.org/0000-0002-0371-1954 anomalies in the mobility of the spermatozoa MPheno.ontology MP:0002674 abnormal sperm motility MP:0002674 anomalies in the mobility of the spermatozoa ISBN:0-683-40008-8 loss or reduction of the mobility of the spermatozoa, frequently associated with infertility asthenospermia impaired sperm motility MPheno.ontology MP:0002675 asthenozoospermia MP:0002675 loss or reduction of the mobility of the spermatozoa, frequently associated with infertility ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 increase in the number of normal cells in normal arrangement in the uterus, typically resulting in increased size hyperplastic uterus metra hyperplasia metral hyperplasia uterine hyperplasia MPheno.ontology MP:0002676 uterus hyperplasia MP:0002676 increase in the number of normal cells in normal arrangement in the uterus, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 true MP:0002677 greater frequency of the entry of arrested primordial follicles into the pool of growing follicles MPheno.ontology MP:0002678 increased follicle recruitment MP:0002678 greater frequency of the entry of arrested primordial follicles into the pool of growing follicles https://orcid.org/0000-0003-3691-0324 any structural anomaly of the yellow endocrine body formed in the ovary after follicle rupture abnormal corpora lutea MPheno.ontology MP:0002679 abnormal corpus luteum morphology MP:0002679 any structural anomaly of the yellow endocrine body formed in the ovary after follicle rupture https://orcid.org/0000-0003-3691-0324 fewer than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrous cycle decreased number of corpora lutea reduced corpora lutea number MPheno.ontology MP:0002680 decreased corpora lutea number MP:0002680 fewer than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrous cycle https://orcid.org/0000-0003-3691-0324 greater than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrous cycle increased number of corpora lutea MPheno.ontology MP:0002681 increased corpora lutea number MP:0002681 greater than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrous cycle https://orcid.org/0000-0003-3691-0324 fewer than normal numbers of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle decreased number of mature ovarian follicles reduced mature ovarian follicle number reduced number of mature ovarian follicles MPheno.ontology MP:0002682 decreased mature ovarian follicle number MP:0002682 fewer than normal numbers of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 ability to produce live offspring occurring at a later than expected age MPheno.ontology MP:0002683 delayed fertility MP:0002683 ability to produce live offspring occurring at a later than expected age MGI:llw2 true MP:0002684 anomaly in the proliferation of the spermatogonial stem cells either due to abnormal mitosis or apoptosis abnormal proliferation of spermatogonia MPheno.ontology MP:0002685 abnormal spermatogonia proliferation MP:0002685 anomaly in the proliferation of the spermatogonial stem cells either due to abnormal mitosis or apoptosis J:62271 https://orcid.org/0000-0002-0371-1954 any structural anomaly of the acrosome resulting in a round sperm head acrosome malformation of spermatozoa round sperm heads round-headed spermatozoa MPheno.ontology MP:0002686 globozoospermia MP:0002686 any structural anomaly of the acrosome resulting in a round sperm head J:57312 https://orcid.org/0000-0002-0371-1954 reduced concentration of spermatozoa in the cauda epididymis or seminal fluid MP:0002684 decreased sperm count decreased sperm number oligospermia reduced sperm count reduced sperm number MPheno.ontology hypospermia MP:0002687 oligozoospermia MP:0002687 reduced concentration of spermatozoa in the cauda epididymis or seminal fluid J:57312 https://orcid.org/0000-0002-0371-1954 hypospermia https://orcid.org/0000-0002-6490-7723 OBSOLETE. decreased threshold to obtain a physiological or behavioral response to an addictive substance decreased resistance to addictive substance increased susceptibility to addictive substance MPheno.ontology MP:0002688 obsolete increased sensitivity to addictive substance true MP:0002688 OBSOLETE. decreased threshold to obtain a physiological or behavioral response to an addictive substance https://orcid.org/0000-0003-3691-0324 any structural anomaly of the most posterior teeth located on either side of the jaw, characterized by a large crown and broad chewing surface abnormal molars MPheno.ontology MP:0002689 abnormal molar morphology MP:0002689 any structural anomaly of the most posterior teeth located on either side of the jaw, characterized by a large crown and broad chewing surface MESH:A14.549.167.860.525 MGI:il acquired absence of voluntary movement or loss of the ability to move such as temporary or prolonged paralysis or freezing in place MPheno.ontology MP:0002690 akinesia MP:0002690 acquired absence of voluntary movement or loss of the ability to move such as temporary or prolonged paralysis or freezing in place MGI:cml reduced size of the stomach decreased stomach size MPheno.ontology MP:0002691 small stomach MP:0002691 reduced size of the stomach MGI:dlb true MP:0002692 any functional anomaly of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream abnormal pancreas function MPheno.ontology MP:0002693 abnormal pancreas physiology MP:0002693 any functional anomaly of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream ISBN:0-683-40008-8 anomaly in the production and/or release of biologically active substances from pancreatic tissue MPheno.ontology MP:0002694 abnormal pancreas secretion MP:0002694 anomaly in the production and/or release of biologically active substances from pancreatic tissue https://orcid.org/0000-0003-3691-0324 anomaly in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes abnormal circulating HG-factor level abnormal glucagon level MPheno.ontology MP:0002695 abnormal circulating glucagon level MP:0002695 anomaly in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes MESH:D06.472.699.587.469.500 reduction in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes reduced circulating glucagon level decreased plasma glucagon levels MPheno.ontology MP:0002696 decreased circulating glucagon level MP:0002696 reduction in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes MESH:D06.472.699.587.469.500 deviation from the average range of eye size for a given organism eye size abnormalities MPheno.ontology MP:0002697 abnormal eye size MP:0002697 deviation from the average range of eye size for a given organism https://orcid.org/0000-0003-3691-0324 any structural anomaly of the fibrous, outer envelope of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea abnormal sclerotic coat morphology abnormal sclerotica morphology abnormal tunica albuginea oculi morphology abnormal tunica sclerotica morphology sclera dysplasia MPheno.ontology MP:0002698 abnormal sclera morphology MP:0002698 any structural anomaly of the fibrous, outer envelope of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea MESH:A09.371.784 any structural anomaly of the transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina abnormal corpus vitreum abnormal hyaloid body abnormal vitreal body abnormal vitreum vitreous abnormalities vitreous body abnormalities MPheno.ontology MP:0002699 abnormal vitreous body morphology MP:0002699 any structural anomaly of the transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina MESH:A09.371.943 the transparent gel filling the inner portion of the eyeball between the lens and retina becomes cloudy and impervious to light MP:0001291 increased opacity of corpus vitreum increased opacity of eyeball increased opacity of hyaloid body increased opacity of vitreal body increased opacity of vitreum increased vitreous body opacity MPheno.ontology MP:0002700 increased opacity of vitreous body MP:0002700 the transparent gel filling the inner portion of the eyeball between the lens and retina becomes cloudy and impervious to light MGI:llw2 true MP:0002701 lower than normal levels of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacylglycerols are taken into tissues decreased FFA level decreased UFA level decreased circulating free fatty acid level decreased circulating non-esterified fatty acids level decreased unesterified fatty acids level reduced FFA level reduced UFA level reduced circulating free fatty acid level reduced circulating non-esterified fatty acids level reduced unesterified fatty acids level lowered serum free fatty acid levels MPheno.ontology decreased NEFA level decreased free fatty acids level reduced NEFA level reduced free fatty acids level MP:0002702 decreased circulating free fatty acids level MP:0002702 lower than normal levels of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacylglycerols are taken into tissues ISBN:0-683-40008-8 any structural anomaly of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule abnormal kidney tubule morphology abnormal renal tubules morphology kidney tubule dysplasia renal tubule dysplasia MPheno.ontology MP:0002703 abnormal renal tubule morphology MP:0002703 any structural anomaly of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule https://orcid.org/0000-0003-3691-0324 inflammation of the renal tubules MPheno.ontology MP:0002704 tubular nephritis MP:0002704 inflammation of the renal tubules ISBN:0-683-40008-8 stretched or widened aperture of the luminal space of one or more of the loops of Henle, proximal convoluted tubules or distal convoluted tubules dilated renal tubules renal tubule dilation renal tubule ectasia MPheno.ontology MP:0002705 dilated renal tubule MP:0002705 stretched or widened aperture of the luminal space of one or more of the loops of Henle, proximal convoluted tubules or distal convoluted tubules https://orcid.org/0000-0003-3691-0324 anomalous physical bulk one or both of the organs responsible for urine secretion MPheno.ontology MP:0002706 abnormal kidney size MP:0002706 anomalous physical bulk one or both of the organs responsible for urine secretion MGI:cwg anomaly in the average weight of the organs responsible for urine secretion MPheno.ontology MP:0002707 abnormal kidney weight MP:0002707 anomaly in the average weight of the organs responsible for urine secretion MGI:cwg calculi (stones) occurring in the kidney MP:0002709 kidney calculi kidney calculus kidney stone kidney stones nephrolith renal calculus renal stones MPheno.ontology renal calculi MP:0002708 nephrolithiasis MP:0002708 calculi (stones) occurring in the kidney MESH:C12.777.419.600 true MP:0002709 greater than normal production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes elevated glucagon secretion MPheno.ontology MP:0002710 increased glucagon secretion MP:0002710 greater than normal production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes MESH:D06.472.699.587.469.500 reduction in the production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes reduced glucagon secretion MPheno.ontology MP:0002711 decreased glucagon secretion MP:0002711 reduction in the production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes MESH:D06.472.699.587.469.500 increase in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes increased plasma glucagon level MPheno.ontology MP:0002712 increased circulating glucagon level MP:0002712 increase in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes MESH:D06.472.699.587.469.500 inability to breakdown glycogen; or reduced or increased rate of glycogen breakdown abnormal glucogenesis abnormal glycogenolysis MPheno.ontology MP:0002713 abnormal glycogen catabolism MP:0002713 inability to breakdown glycogen; or reduced or increased rate of glycogen breakdown https://orcid.org/0000-0003-3691-0324 increased breakdown of this highly branched polysaccharide composed of glucose subunits; glycogen is the major carbohydrate storage form in the body increased glycogenolysis MPheno.ontology elevated glycogen catabolism rate increased glucogenesis rate MP:0002714 increased glycogen catabolism rate MP:0002714 increased breakdown of this highly branched polysaccharide composed of glucose subunits; glycogen is the major carbohydrate storage form in the body MGI:cwg decreased breakdown of this highly branched polysaccharide composed of glucose subunits; glycogen is the major carbohydrate storage form in the body decreased glycogenolysis MPheno.ontology decreased glucogenesis rate reduced glycogen catabolism rate MP:0002715 decreased glycogen catabolism rate MP:0002715 decreased breakdown of this highly branched polysaccharide composed of glucose subunits; glycogen is the major carbohydrate storage form in the body MGI:cwg reduced size of the sebaceous glands of the corona and neck of the glans penis decreased male preputial gland size small male preputial glands MPheno.ontology MP:0002716 small male preputial gland MP:0002716 reduced size of the sebaceous glands of the corona and neck of the glans penis ISBN:0-683-40008-8 MGI:il any structural anomaly of the paired, lobulated, modified sebaceous glands of the corona, the neck of the glans penis, and the inner surface of the prepuce with pheromonal functions in male rodents; male preputial secretions strongly attract females, may accelerate estrus, and have been implicated in intermale aggression; homologous to the clitoral glands (aka female preputial glands) in female rodents; there is no true anatomical equivalent in humans abnormal Tyson's gland morphology abnormal morphology of Tyson's glands MPheno.ontology MP:0002717 abnormal male preputial gland morphology MP:0002717 any structural anomaly of the paired, lobulated, modified sebaceous glands of the corona, the neck of the glans penis, and the inner surface of the prepuce with pheromonal functions in male rodents; male preputial secretions strongly attract females, may accelerate estrus, and have been implicated in intermale aggression; homologous to the clitoral glands (aka female preputial glands) in female rodents; there is no true anatomical equivalent in humans https://orcid.org/0000-0002-6490-7723 any structural anomaly of the cells of the blastocyst that develop into the body of the embryo and some extraembryonic tissues abnormal embryoblast MPheno.ontology MP:0002718 abnormal inner cell mass morphology MP:0002718 any structural anomaly of the cells of the blastocyst that develop into the body of the embryo and some extraembryonic tissues ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 true MP:0002719 OBSOLETE. abnormal development of the urogenital system resulting in morphological abnormality MP:0002719 genitourinary abnormalities genitourinary system: dysmorphology urogenital system abnormalities MPheno.ontology MP:0002720 obsolete urogenital system: dysmorphology true MP:0002720 OBSOLETE. abnormal development of the urogenital system resulting in morphological abnormality https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0002721 obsolete abnormal urogenital system physiology true MP:0002721 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of lymphoid organs MP:0000686 abnormal lymph organ morphology immune system: organ abnormalities immune system organ dysplasia MPheno.ontology MP:0002722 abnormal immune system organ morphology MP:0002722 any structural anomaly of lymphoid organs MGI:cwg abnormal concentration or function of circulating immune proteins immune system: serum protein abnormalities MPheno.ontology MP:0002723 abnormal immune serum protein physiology MP:0002723 abnormal concentration or function of circulating immune proteins MGI:cwg increased ability to self-repair and close wounds improved wound healing MPheno.ontology MP:0002724 enhanced wound healing MP:0002724 increased ability to self-repair and close wounds J:42016 MGI:dlb any structural anomaly of the blood vessels that carry blood towards the heart abnormal venous morphology venous abnormalities MPheno.ontology MP:0002725 abnormal vein morphology MP:0002725 any structural anomaly of the blood vessels that carry blood towards the heart ISBN:0-683-40008-8 any structural anomaly of the veins that return oxygenated blood from the lungs to the left atrium of the heart Fyler:3000 abnormal pulmonary veins MPheno.ontology MP:0002726 abnormal pulmonary vein morphology MP:0002726 any structural anomaly of the veins that return oxygenated blood from the lungs to the left atrium of the heart MGI:cwg less than normal levels of insulin in the blood hypoinsulinaemia hypoinsulinemia reduced circulating insulin level MPheno.ontology MP:0002727 decreased circulating insulin level MP:0002727 less than normal levels of insulin in the blood ISBN:0-683-40008-8 MGI:dlb missing the medial and larger of the two bones of the lower leg absence of tibia MPheno.ontology MP:0002728 absent tibia MP:0002728 missing the medial and larger of the two bones of the lower leg ISBN:0-683-40008-8 MGI:cml any structural anomaly of the tubular ducts of the inner ear abnormal canals MPheno.ontology abnormal canal morphology MP:0002729 abnormal inner ear canal morphology MP:0002729 any structural anomaly of the tubular ducts of the inner ear ISBN:0-683-40008-8 repetitive movement of the head in the horizontal plane MPheno.ontology MP:0002730 head shaking MP:0002730 repetitive movement of the head in the horizontal plane https://orcid.org/0000-0002-0371-1954 extreme dilation of the colon giant colon MPheno.ontology MP:0002731 megacolon MP:0002731 extreme dilation of the colon ISBN:0-683-40008-8 greater than the expected number of benign hair follicle tumors that lack mature hair follicles, derived from basal cells of the hair follicles enclosing small keratin cysts, occurring in a specific population in a given time period MPheno.ontology trichoepithelioma MP:0002732 increased trichoepithelioma incidence MP:0002732 greater than the expected number of benign hair follicle tumors that lack mature hair follicles, derived from basal cells of the hair follicles enclosing small keratin cysts, occurring in a specific population in a given time period MGI:il abnormal capability to sense pain elicited by thermal stimulation MP:0001972 abnormal response to temperature MPheno.ontology MP:0002733 abnormal thermal nociception MP:0002733 abnormal capability to sense pain elicited by thermal stimulation https://orcid.org/0000-0002-0371-1954 abnormal capability to sense pain elicited by mechanical stimulation MP:0002737 mechanical nociception abnormalities MPheno.ontology MP:0002734 abnormal mechanical nociception MP:0002734 abnormal capability to sense pain elicited by mechanical stimulation https://orcid.org/0000-0002-0371-1954 abnormal capability to sense pain elicited by chemical stimulation MPheno.ontology MP:0002735 abnormal chemical nociception MP:0002735 abnormal capability to sense pain elicited by chemical stimulation https://orcid.org/0000-0002-0371-1954 changes in pain thresholds after inflammation MPheno.ontology MP:0002736 abnormal nociception after inflammation MP:0002736 changes in pain thresholds after inflammation https://orcid.org/0000-0002-0371-1954 true MP:0002737 exaggerated reflex action normally induced by touch or pain tactile hyperalgesia MPheno.ontology hypesthesia MP:0002738 hyperresponsive to tactile stimuli MP:0002738 exaggerated reflex action normally induced by touch or pain https://orcid.org/0000-0003-3691-0324 abnormality in the progression of the formation of the olfactory bulb MPheno.ontology MP:0002739 abnormal olfactory bulb development MP:0002739 abnormality in the progression of the formation of the olfactory bulb J:65380 https://orcid.org/0000-0002-0371-1954 decrease in the number of normal cells in normal arrangement in the heart, typically resulting in decreased size hypoplastic heart MPheno.ontology myocardial hypoplasia MP:0002740 heart hypoplasia MP:0002740 decrease in the number of normal cells in normal arrangement in the heart, typically resulting in decreased size https://orcid.org/0000-0002-0371-1954 reduced size of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex decreased olfactory bulb size reduced olfactory bulb size MPheno.ontology MP:0002741 small olfactory bulb MP:0002741 reduced size of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex J:79871 increased size of the submandibular lymph nodes increased submandibular lymph node size MPheno.ontology MP:0002742 enlarged submandibular lymph nodes MP:0002742 increased size of the submandibular lymph nodes https://orcid.org/0000-0002-0371-1954 inflammation and scarring damage to the glomerulus usually resulting from an autoimmune response; often characterized by decreased production of urine, the presence of blood and protein in the urine, and/or by edema; often leads to kidney failure GN glomerular nephritis MPheno.ontology MP:0002743 glomerulonephritis MP:0002743 inflammation and scarring damage to the glomerulus usually resulting from an autoimmune response; often characterized by decreased production of urine, the presence of blood and protein in the urine, and/or by edema; often leads to kidney failure ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0002744 any structural anomaly of the valves that gate the flow of blood from the atria into the ventricles abnormal AV valve morphology abnormal atrioventricular valves morphology atrioventricular valve dysplasia MPheno.ontology MP:0002745 abnormal atrioventricular valve morphology MP:0002745 any structural anomaly of the valves that gate the flow of blood from the atria into the ventricles https://orcid.org/0000-0002-0371-1954 any structural anomaly of the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk abnormal outflow tract valves morphology abnormal semi-lunar valve morphology abnormal semilunar valves morphology semi-lunar valve dysplasia semilunar valve dysplasia MPheno.ontology MP:0002746 abnormal semilunar valve morphology MP:0002746 any structural anomaly of the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk https://orcid.org/0000-0002-0371-1954 any structural anomaly of the valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle, and contains three cusps, the posterior (non-coronary), right anterior and left anterior cusps, attached to an outer fibrous ring (annulus) aortic valvar abnormality Fyler:1400 Fyler:1408 abnormal aortic semi-lunar valve morphology abnormal aortic semilunar valve morphology abnormal left arterial valve morphology abnormal left semi-lunar valve morphology abnormal left semilunar valve morphology abnormal left ventriculoarterial junction morphology aortic valve dysplasia MPheno.ontology MP:0002747 abnormal aortic valve morphology MP:0002747 any structural anomaly of the valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle, and contains three cusps, the posterior (non-coronary), right anterior and left anterior cusps, attached to an outer fibrous ring (annulus) ISBN:0-683-40008-8 MESH:A07.541.510.110 abnormal aortic semilunar valve morphology https://radiopaedia.org/articles/aortic-valve https://www.ncbi.nlm.nih.gov/books/NBK559384/ abnormal left arterial valve morphology http://www.vhlab.umn.edu/atlas/anatomy-tutorial/cardiac-valve-nomenclature.shtml abnormal left semilunar valve morphology https://www.kenhub.com/en/library/anatomy/aortic-valve abnormal left ventriculoarterial junction morphology https://www.kenhub.com/en/library/anatomy/aortic-valve any structural anomaly of the valve between the right ventricle and the pulmonary trunk, and contains three cusps, the anterior, right posterior and left posterior cusps, attached to an outer fibrous ring (annulus) pulmonary valvar abnormality Fyler:1600 Fyler:1602 abnormal pulmonic valve morphology abnormal right arterial valve morphology abnormal right semi-lunar valve morphology abnormal right semilunar valve morphology dysplastic pulmonary valve pulmonary valve dysplasia MPheno.ontology MP:0002748 abnormal pulmonary valve morphology MP:0002748 any structural anomaly of the valve between the right ventricle and the pulmonary trunk, and contains three cusps, the anterior, right posterior and left posterior cusps, attached to an outer fibrous ring (annulus) ISBN:0-683-40008-8 MESH:A07.541.510.738 abnormal right arterial valve morphology http://www.vhlab.umn.edu/atlas/anatomy-tutorial/cardiac-valve-nomenclature.shtml abnormal right semilunar valve morphology http://www.vhlab.umn.edu/atlas/anatomy-tutorial/cardiac-valve-nomenclature.shtml true MP:0002749 forward displacement, bulging, or protrusion of one or both eyeballs MP:0006196 bulging eyes ocular proptosis proptosis protruding eyes MPheno.ontology MP:0002750 exophthalmos MP:0002750 forward displacement, bulging, or protrusion of one or both eyeballs MGI:il any structural anomaly of the function of the sensory and motor neurons that run between the central nervous system (especially the hypothalamus and medulla oblongata) and various internal organs (heart, lungs, endocrine and exocrine glands), responsible for controlling involuntary bodily functions autonomic nervous system abnormalities autonomic nervous system dysplasia MPheno.ontology MP:0002751 abnormal autonomic nervous system morphology MP:0002751 any structural anomaly of the function of the sensory and motor neurons that run between the central nervous system (especially the hypothalamus and medulla oblongata) and various internal organs (heart, lungs, endocrine and exocrine glands), responsible for controlling involuntary bodily functions https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the part of the peripheral nervous system that is responsible for conveying voluntary motor and external sensory information, including all nerves controlling the skeletal muscular system and external sensory receptors (including balance, smell, sight, taste, touch and hearing sensory inputs) somatic nervous system abnormalities somatic nervous system dysplasia MPheno.ontology MP:0002752 abnormal somatic nervous system morphology MP:0002752 any structural anomaly of the part of the peripheral nervous system that is responsible for conveying voluntary motor and external sensory information, including all nerves controlling the skeletal muscular system and external sensory receptors (including balance, smell, sight, taste, touch and hearing sensory inputs) https://orcid.org/0000-0003-3691-0324 the luminal space of the lower left chamber of the heart is increased in volume or area, usually with an increase in contained fluid Fyler:1817 cardiac left ventricle dilation dilated cardiac left ventricle heart left ventricle dilation heart left ventricular dilation MPheno.ontology MP:0002753 dilated heart left ventricle MP:0002753 the luminal space of the lower left chamber of the heart is increased in volume or area, usually with an increase in contained fluid https://orcid.org/0000-0002-0371-1954 the luminal space of the lower right chamber of the heart is increased in volume or area, usually with an increase in contained fluid Fyler:1827 cardiac right ventricle dilation dilated cardiac right ventricle heart right ventricle dilation heart right ventricular dilation MPheno.ontology MP:0002754 dilated heart right ventricle MP:0002754 the luminal space of the lower right chamber of the heart is increased in volume or area, usually with an increase in contained fluid https://orcid.org/0000-0002-0371-1954 true MP:0002755 OBSOLETE. fewer than average number of projection neurons in the hippocampus MP:0009971 MP:0009974 decreased pyramidal cell number reduced number of pyramidal cells reduced pyramidal cell number MPheno.ontology MP:0002756 obsolete decreased pyramidal neuron number true MP:0002756 OBSOLETE. fewer than average number of projection neurons in the hippocampus MGI:cml lesser than average time spent jumping or rearing MP:0001420 reduced activity in rearing test reduced activity in vertical open field test reduced rearing reduced reconnoitering behavior reduced reconnoitering behaviour reduced vertical activity MPheno.ontology MP:0002757 decreased vertical activity MP:0002757 lesser than average time spent jumping or rearing https://orcid.org/0000-0002-0371-1954 increased length of tail relative to average of a given reference population increased tail length MPheno.ontology MP:0002758 long tail MP:0002758 increased length of tail relative to average of a given reference population https://orcid.org/0000-0002-0371-1954 any structural anomaly of the bony segments of the coccyx or tail MP:0000456 abnormal tail vertebrae morphology abnormal coccygeal vertebrae morphology MPheno.ontology MP:0002759 There are usually 27-30 caudal vertebrae present in rodents. abnormal caudal vertebrae morphology MP:0002759 any structural anomaly of the bony segments of the coccyx or tail https://orcid.org/0000-0002-0371-1954 OBSOLETE. abnormal position of one or more triangular shaped projection neurons in the hippocampus MP:0010011 MP:0010012 ectopic pyramidal cells heterotopic pyramidal cells MPheno.ontology MP:0002760 obsolete ectopic pyramidal neurons true MP:0002760 OBSOLETE. abnormal position of one or more triangular shaped projection neurons in the hippocampus ISBN:0-683-40008-8 absence or misprojection of axons of neuronal cells in the dentate gyrus abnormal hippocampal mossy fibers abnormal hippocampal mossy fibre morphology abnormal hippocampal mossy fibres MPheno.ontology MP:0002761 abnormal hippocampal mossy fiber morphology MP:0002761 absence or misprojection of axons of neuronal cells in the dentate gyrus J:4978 MESH:A08.186.211.464.405.200.500 granule cell body resides in a place other than the external or internal granule layer of the cerebellum ectopic granule cells ectopic granule neuron heterotopic granule cells CL:0001031 MPheno.ontology MP:0002762 ectopic cerebellar granule cells MP:0002762 granule cell body resides in a place other than the external or internal granule layer of the cerebellum J:4978 abnormal position of one or more astrocyte-type glia cells associated with Purkinje cells in the cerebellum heterotopic Bergmann glia cells MPheno.ontology MP:0002763 ectopic Bergmann glia cells MP:0002763 abnormal position of one or more astrocyte-type glia cells associated with Purkinje cells in the cerebellum ISBN:0-683-40008-8 reduced length of the medial and larger bone of the lower leg decreased tibia length MPheno.ontology MP:0002764 short tibia MP:0002764 reduced length of the medial and larger bone of the lower leg ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 reduced length of the lateral and smaller of bone of the lower leg decreased fibula length MPheno.ontology MP:0002765 short fibula MP:0002765 reduced length of the lateral and smaller of bone of the lower leg J:12736 https://orcid.org/0000-0002-0371-1954 lateral transposition or mirroring of the viscera of the thorax and abdomen, sometimes incomplete, with all organs maintaining the normal relative position with respect to each other MPATH:720 situs inversus viscerum visceral inversion MPheno.ontology MP:0002766 situs inversus MP:0002766 lateral transposition or mirroring of the viscera of the thorax and abdomen, sometimes incomplete, with all organs maintaining the normal relative position with respect to each other MESH:C16.131.810 PMID:16461029 an abnormality in which the thoracic and abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements MPATH:711 MPheno.ontology situs ambiguous MP:0002767 situs ambiguus MP:0002767 an abnormality in which the thoracic and abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements PMID:18039396 reduced size of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla decreased adrenal gland size reduced adrenal gland size MPheno.ontology MP:0002768 small adrenal glands MP:0002768 reduced size of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla ISBN:0-683-40008-8 any structural anomaly of the secretory duct of the testicle that carries spermatozoa, running from the epididymis, of which it is the continuation, to the prostatic urethra where it terminates to form ejaculatory duct abnormal ductus deferens morphology vas deferens dysplasia MPheno.ontology MP:0002769 abnormal vas deferens morphology MP:0002769 any structural anomaly of the secretory duct of the testicle that carries spermatozoa, running from the epididymis, of which it is the continuation, to the prostatic urethra where it terminates to form ejaculatory duct ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 absence of any of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; they secrete a clear fluid known as pre-ejaculate (Cowper's fluid), and are homologous to the greater vestibular (Bartholin's) glands in the female absence of bulbourethral gland absent Cowper's gland absent Mery gland absent bulbo-urethral gland MPheno.ontology MP:0002770 absent bulbourethral gland MP:0002770 absence of any of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; they secrete a clear fluid known as pre-ejaculate (Cowper's fluid), and are homologous to the greater vestibular (Bartholin's) glands in the female https://orcid.org/0000-0002-6490-7723 absence of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles absence of coagulating gland absent AP absent coagulating gland MPheno.ontology MP:0002771 absent prostate gland anterior lobe MP:0002771 absence of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles PMID:12645922 PMID:3308446 decreased length of the autopod decreased autopod length short feet MPheno.ontology MP:0002772 brachypodia MP:0002772 decreased length of the autopod J:31930 MGI:il lower than normal levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary decreased circulating luteinising hormone level reduced circulating luteinising hormone level reduced circulating luteinizing hormone level decreased serum levels of LH decreased serum levels of luteinising hormone decreased serum levels of luteinizing hormone decreased serum levels of lutropin MPheno.ontology MP:0002773 decreased circulating luteinizing hormone level MP:0002773 lower than normal levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary MESH:D06.472.699.322.576.463 https://orcid.org/0000-0002-0371-1954 reduced size of the gland in males that secretes part of the seminiferous fluid decreased prostate gland size MPheno.ontology MP:0002774 small prostate gland MP:0002774 reduced size of the gland in males that secretes part of the seminiferous fluid https://orcid.org/0000-0002-0371-1954 true MP:0002775 increased number of the supporting cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis increased sertoli cell number Sertoli cell hyperplasia MPheno.ontology MP:0002776 increased Sertoli cell number MP:0002776 increased number of the supporting cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis J:71710 https://orcid.org/0000-0002-0371-1954 absence of the sac-like structure in the ovary which surrounds an ovum absence of ovarian follicles absent growing ovarian follicles MPheno.ontology MP:0002777 absent ovarian follicles MP:0002777 absence of the sac-like structure in the ovary which surrounds an ovum ISBN:0-683-40008-8 type of anencephaly in which the brain and cranium are present in rudimentary form MPheno.ontology MP:0002778 meroanencephaly MP:0002778 type of anencephaly in which the brain and cranium are present in rudimentary form ISBN:0-683-40008-8 MGI:il anomaly in the production and/or release of hormones from a cell or a gland of the reproductive system MPheno.ontology MP:0002779 abnormal sex gland secretion MP:0002779 anomaly in the production and/or release of hormones from a cell or a gland of the reproductive system https://orcid.org/0000-0003-3691-0324 reduction in the blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females reduced circulating testosterone level decreased serum levels of testosterone reduced serum levels of testosterone MPheno.ontology MP:0002780 decreased circulating testosterone level MP:0002780 reduction in the blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females ISBN:0-683-40008-8 greater than the normal blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females elevated serum levels of testosterone increased serum levels of testosterone MPheno.ontology MP:0002781 increased circulating testosterone level MP:0002781 greater than the normal blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females ISBN:0-683-40008-8 anomaly in the production and/or release of hormones from testicular tissue abnormal testicular secretion MPheno.ontology MP:0002782 abnormal testes secretion MP:0002782 anomaly in the production and/or release of hormones from testicular tissue https://orcid.org/0000-0003-3691-0324 anomaly in the production and/or release of hormones from ovarian tissue abnormal ovarian secretion MPheno.ontology MP:0002783 abnormal ovary secretion MP:0002783 anomaly in the production and/or release of hormones from ovarian tissue https://orcid.org/0000-0003-3691-0324 any structural anomaly of the supporting cells of the seminiferous tubule epithelium that create the blood-testes barrier and enable spermatogenesis abnormal Sertoli cells MPheno.ontology MP:0002784 abnormal Sertoli cell morphology MP:0002784 any structural anomaly of the supporting cells of the seminiferous tubule epithelium that create the blood-testes barrier and enable spermatogenesis https://orcid.org/0000-0002-0371-1954 lack of the interstitial cells of the seminiferous tubules that secrete testosterone absence of Leydig cells MPheno.ontology MP:0002785 absent Leydig cells MP:0002785 lack of the interstitial cells of the seminiferous tubules that secrete testosterone https://orcid.org/0000-0002-0371-1954 any structural anomaly of the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone (LH); Leydig cells are polyhedral in shape, display a large prominent nucleus, an eosinophilic cytoplasm and numerous lipid-filled vesicles abnormal Leydig cells MPheno.ontology MP:0002786 abnormal Leydig cell morphology MP:0002786 any structural anomaly of the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone (LH); Leydig cells are polyhedral in shape, display a large prominent nucleus, an eosinophilic cytoplasm and numerous lipid-filled vesicles http://en.wikipedia.org/wiki/Leydig_cell https://orcid.org/0000-0002-6490-7723 unambiguous gonadal sex (i.e. possesses either testes or ovaries, consistent with chromosomal sex) but has ambiguous secondary sexual characteristics false hermaphroditism MPheno.ontology MP:0002787 pseudohermaphroditism MP:0002787 unambiguous gonadal sex (i.e. possesses either testes or ovaries, consistent with chromosomal sex) but has ambiguous secondary sexual characteristics MGI:llw2 https://orcid.org/0000-0002-0371-1954 pseudohermaphroditism in which the gonads are female (ovaries) and the karyotype is XX but the secondary sex characteristics are male-like or ambiguous MPheno.ontology MP:0002788 female pseudohermaphroditism MP:0002788 pseudohermaphroditism in which the gonads are female (ovaries) and the karyotype is XX but the secondary sex characteristics are male-like or ambiguous MGI:llw2 https://orcid.org/0000-0002-0371-1954 pseudohermaphroditism in which the gonads are male (testes) and the karyotype is XY but the secondary sex characteristics are female-like or ambiguous MPheno.ontology MP:0002789 male pseudohermaphroditism MP:0002789 pseudohermaphroditism in which the gonads are male (testes) and the karyotype is XY but the secondary sex characteristics are female-like or ambiguous MGI:llw2 https://orcid.org/0000-0002-0371-1954 less than expected blood concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis reduced circulating follicle stimulating hormone level decreased serum levels of FSH decreased serum levels of follicle stimulating hormone decreased serum levels of follitropin decreased serum levels of gametokinetic hormone MPheno.ontology MP:0002790 decreased circulating follicle stimulating hormone level MP:0002790 less than expected blood concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis ISBN:0-683-40008-8 passage of large amounts of fat in the feces due to the inability to digest and absorb it fat indigestion stearrhea MPheno.ontology MP:0002791 steatorrhea MP:0002791 passage of large amounts of fat in the feces due to the inability to digest and absorb it ISBN:0-683-40008-8 any anomaly of the structure or arrangement of blood vessels supplying the retina MP:0006189 abnormal retinal vasculature morphology MPheno.ontology MP:0002792 abnormal retina vasculature morphology MP:0002792 any anomaly of the structure or arrangement of blood vessels supplying the retina MGI:cml true MP:0002793 a conical bulging of the lens capsule and the underlying cortex of the eye MPheno.ontology MP:0002794 Lenticonus refers to a conical projection of the anterior or posterior surface of the lens, whereas lentiglobus refers to a globular projection of the anterior or posterior surface of the lens. lenticonus MP:0002794 a conical bulging of the lens capsule and the underlying cortex of the eye ISBN:0-683-40008-8 decreased function of the heart associated with cardiac enlargement and congestive heart failure Fyler:1843 congestive cardiomyopathy MPheno.ontology MP:0002795 dilated cardiomyopathy MP:0002795 decreased function of the heart associated with cardiac enlargement and congestive heart failure ISBN:0-683-40008-8 impaired ability of the skin to regulate water loss; frequently leads to dehydration MPheno.ontology increased TEWL increased TWL increased trans-epidermal water loss increased transepidermal water loss MP:0002796 impaired skin barrier function MP:0002796 impaired ability of the skin to regulate water loss; frequently leads to dehydration J:56641 increased TEWL https://en.wikipedia.org/wiki/Transepidermal_water_loss increased TWL https://en.wikipedia.org/wiki/Transepidermal_water_loss increased transepidermal water loss PMID:16761956 greater than average preference for staying at the perimeter walls of an open area or in an enclosed versus exposed area; may be used as an indicator of increased anxiety response MPheno.ontology MP:0002797 increased thigmotaxis MP:0002797 greater than average preference for staying at the perimeter walls of an open area or in an enclosed versus exposed area; may be used as an indicator of increased anxiety response J:56814 https://orcid.org/0000-0003-4606-0597 anomaly in the ability to escape a hostile environment to actively avoid the unpleasant or punishing stimuli ( e.g. shock) previously encountered in this environment abnormal active avoidance behaviour active avoidance anomalies MPheno.ontology MP:0002798 abnormal active avoidance behavior MP:0002798 anomaly in the ability to escape a hostile environment to actively avoid the unpleasant or punishing stimuli ( e.g. shock) previously encountered in this environment MGI:CFG anomaly in the ability of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously with prolonged latency abnormal inhibitory avoidance behavior abnormal inhibitory avoidance behaviour abnormal passive avoidance behaviour passive avoidance anomalies MPheno.ontology MP:0002799 abnormal passive avoidance behavior MP:0002799 anomaly in the ability of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously with prolonged latency MGI:CFG anomaly in the short-term memory for objects is established during the first few minutes after training abnormal short term object recognition memory short-term recognition memory abnormalities MPheno.ontology MP:0002800 abnormal short-term object recognition memory MP:0002800 anomaly in the short-term memory for objects is established during the first few minutes after training MGI:CFG anomaly in long-term memory for objects that is consolidated over hours and days after training abnormal long term object recognition memory long-term recognition memory abnormalities MPheno.ontology MP:0002801 abnormal long-term object recognition memory MP:0002801 anomaly in long-term memory for objects that is consolidated over hours and days after training MGI:CFG anomaly in the ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus discrimination learning abnormalities MPheno.ontology MP:0002802 abnormal discrimination learning MP:0002802 anomaly in the ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus MGI:CFG anomaly in the operant conditioning system refers to abnormalities in scheduled controlled behavior; behavioral assessment occurs in an automated chamber where responses are reinforced with food abnormal operant conditioning behaviour operant conditional abnormalities MPheno.ontology abnormal operant conditional behavior abnormal operant conditional behaviour MP:0002803 abnormal operant conditioning behavior MP:0002803 anomaly in the operant conditioning system refers to abnormalities in scheduled controlled behavior; behavioral assessment occurs in an automated chamber where responses are reinforced with food MGI:CFG anomaly in the ability to repeat a motor task requiring well coordinated movements and balance; measures cerebellar dependent learning motor learning abnormalities MPheno.ontology MP:0002804 abnormal motor learning MP:0002804 anomaly in the ability to repeat a motor task requiring well coordinated movements and balance; measures cerebellar dependent learning MGI:CFG anomaly in the ability of an animal to learn to avoid food sources that were previously associated with aversive internal stimuli or sickness such as a drug that induces sickness abnormal conditioned taste aversion behaviour conditioned taste aversion anomalies MPheno.ontology MP:0002805 abnormal conditioned taste aversion behavior MP:0002805 anomaly in the ability of an animal to learn to avoid food sources that were previously associated with aversive internal stimuli or sickness such as a drug that induces sickness MGI:CFG anomaly in an emotional response that has been acquired by conditioning conditioned emotional response anomalies MPheno.ontology MP:0002806 abnormal conditioned emotional response MP:0002806 anomaly in an emotional response that has been acquired by conditioning MGI:CFG anomaly in the ability of an animal to learn to blink in anticipation of an aversive stimulus (e.g., an air puff to the eyelid) following repeated pairings with a neutral stimulus (e.g., a tone); such learning is only adaptive if the animal is able to learn the precise timing between the conditioned and unconditioned stimuli abnormal eye blink conditioning behaviour eye blink conditioning anomalies MPheno.ontology MP:0002807 abnormal eye blink conditioning behavior MP:0002807 anomaly in the ability of an animal to learn to blink in anticipation of an aversive stimulus (e.g., an air puff to the eyelid) following repeated pairings with a neutral stimulus (e.g., a tone); such learning is only adaptive if the animal is able to learn the precise timing between the conditioned and unconditioned stimuli MGI:CFG anomaly in the behavior of plucking of fur/hair or whiskers/vibrissae from other individuals of a cohort (hetero-barbering) or oneself (self-barbering); it is recognized as patches of unevenly chopped hair and the underlying skin is seldom inflamed abnormal barbering behaviour hair biting hair pulling MPheno.ontology Dalila effect MP:0002808 This is a rodent specific behavior. Whisker trimming and barbering are either normal or abnormal depending on the mouse strain. Barbering is particularly common in C57BL/6 and A2G but nearly unseen in other strains. This term should always be used in relation to the control and strain should be specified. abnormal barbering behavior MP:0002808 anomaly in the behavior of plucking of fur/hair or whiskers/vibrissae from other individuals of a cohort (hetero-barbering) or oneself (self-barbering); it is recognized as patches of unevenly chopped hair and the underlying skin is seldom inflamed ISBN:0-471-31639-3 PMID:16236465 larger appearance of the spinal cord enlarged spinal cord size MPheno.ontology MP:0002809 increased spinal cord size MP:0002809 larger appearance of the spinal cord J:83935 a reduction in the mean total mass of erythrocytes in which the remaining circulating erythrocyte corpuscular volume is smaller than normal; most commonly due to iron deficiency but also sickle cell disease and other conditions that result in hemoglobin synthesis failure or insufficiency microcytic anaemia MPheno.ontology MP:0002810 microcytic anemia MP:0002810 a reduction in the mean total mass of erythrocytes in which the remaining circulating erythrocyte corpuscular volume is smaller than normal; most commonly due to iron deficiency but also sickle cell disease and other conditions that result in hemoglobin synthesis failure or insufficiency ISBN:0-683-40008-8 deficiency of red blood cells in which the remaining circulating erythrocyte corpuscular volume is larger than normal; most commonly due to megaloblastic anemia, or a deficiency of either vitamin B12 or folic acid macrocytic anaemia MPheno.ontology MP:0002811 macrocytic anemia MP:0002811 deficiency of red blood cells in which the remaining circulating erythrocyte corpuscular volume is larger than normal; most commonly due to megaloblastic anemia, or a deficiency of either vitamin B12 or folic acid ISBN:0-683-40008-8 the presence of sphere-shaped erythrocytes in the circulating blood MPheno.ontology MP:0002812 spherocytosis MP:0002812 the presence of sphere-shaped erythrocytes in the circulating blood ISBN:0-683-40008-8 the presence of unusually small erythrocytes in the circulating blood microcythemia MPheno.ontology MP:0002813 microcytosis MP:0002813 the presence of unusually small erythrocytes in the circulating blood ISBN:0-683-40008-8 increased capacity of a cell to stain with dye; usually refers to staining of cell nuclei with hematoxylin hyperchromatism MPheno.ontology MP:0002814 hyperchromasia MP:0002814 increased capacity of a cell to stain with dye; usually refers to staining of cell nuclei with hematoxylin ISBN:0-683-40008-8 true MP:0002815 local accumulation of fluid, plasma proteins, and leukocytes in the colon region of the large intestine MPheno.ontology MP:0002816 colitis MP:0002816 local accumulation of fluid, plasma proteins, and leukocytes in the colon region of the large intestine ISBN:0-683-40008-8 abnormalities in the process by which calcium salts are deposited into the dental enamel, dentin and cementum tooth mineralization defects abnormal tooth calcification MPheno.ontology MP:0002817 abnormal tooth mineralization MP:0002817 abnormalities in the process by which calcium salts are deposited into the dental enamel, dentin and cementum MESH:G07.700.320.186.710 any structural anomaly in the hard portion of the tooth surrounding the pulp, covered by enamel on the crown and cementum on the root abnormal dentin dentin abnormalities dentine abnormalities MPheno.ontology MP:0002818 abnormal dentin morphology MP:0002818 any structural anomaly in the hard portion of the tooth surrounding the pulp, covered by enamel on the crown and cementum on the root MESH:A14.549.167.900.280 any structural anomaly of the central space (cavity) of a tooth that is bounded by dentin and contains the dental pulp; the portion of the cavity within the crown of the tooth is the pulp chamber; the portion within the root is the pulp canal or root canal abnormal tooth pulp cavity morphology dental pulp cavity abnormalities MPheno.ontology MP:0002819 abnormal dental pulp cavity morphology MP:0002819 any structural anomaly of the central space (cavity) of a tooth that is bounded by dentin and contains the dental pulp; the portion of the cavity within the crown of the tooth is the pulp chamber; the portion within the root is the pulp canal or root canal ISBN:0-683-40008-8 https://www.ncbi.nlm.nih.gov/mesh/68003786 any structural anomaly of the anterior and inner portion of the maxilla abnormal premaxilla premaxilla dysplasia abnormal incisive bone morphology abnormal incisor bone morphology abnormal intermaxillary bone morphology MPheno.ontology MP:0002820 abnormal premaxilla morphology MP:0002820 any structural anomaly of the anterior and inner portion of the maxilla ISBN:0-683-40008-8 true MP:0002821 a condition characterized by inactivity, lack of response to stimuli, and a tendency to maintain an immobile posture; the limbs tend to remain in whatever position they are placed (waxy rigidity); occurs with some psychoses, nervous system drug toxicity, and other conditions MPheno.ontology MP:0002822 catalepsy MP:0002822 a condition characterized by inactivity, lack of response to stimuli, and a tendency to maintain an immobile posture; the limbs tend to remain in whatever position they are placed (waxy rigidity); occurs with some psychoses, nervous system drug toxicity, and other conditions ISBN:0-683-40008-8 MESH:C10.597.350.200 anomalous formation of the bones forming the bony wall of the chest MPheno.ontology MP:0002823 abnormal rib development MP:0002823 anomalous formation of the bones forming the bony wall of the chest J:84754 https://orcid.org/0000-0002-0371-1954 anomaly in the process by which a highly vascularized extra-embryonic fetal membrane is formed by fusion of the chorion and allantois; in most mammals, the chorioallantois constitutes the fetal portion of the placenta MPheno.ontology MP:0002824 abnormal chorioallantoic fusion MP:0002824 anomaly in the process by which a highly vascularized extra-embryonic fetal membrane is formed by fusion of the chorion and allantois; in most mammals, the chorioallantois constitutes the fetal portion of the placenta ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the axial fibrocellular cord in embryos around which develops the vertebral primordia MPheno.ontology MP:0002825 abnormal notochord morphology MP:0002825 any structural anomaly of the axial fibrocellular cord in embryos around which develops the vertebral primordia ISBN:0-683-40008-8 increased number or decreased threshold for the induction of a seizure characterized by muscle rigidity MPheno.ontology MP:0002826 tonic seizures MP:0002826 increased number or decreased threshold for the induction of a seizure characterized by muscle rigidity MGI:hdene any structural anomaly of the structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron abnormal cortical renal corpuscle morphology abnormal malphighian corpuscle morphology MPheno.ontology MP:0002827 abnormal renal corpuscle morphology MP:0002827 any structural anomaly of the structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron ISBN:0-683-40008-8 any structural anomaly of the expanded beginning of a nephron that contains the glomerulus abnormal Bowman's capsule abnormal capsula glomeruli abnormal malphighian capsule MPheno.ontology MP:0002828 abnormal renal glomerular capsule morphology MP:0002828 any structural anomaly of the expanded beginning of a nephron that contains the glomerulus https://orcid.org/0000-0002-0371-1954 any structural anomaly of the complex of modified smooth muscle cells consisting of juxtaglomerular cells, extraglomerular mesangium lacis cells, the macula densa of the distal convoluted tubule, and granular epithelial peripolar cells; these cells are found in the walls of afferent and efferent glomerular arterioles juxtaglomerular complex morphology MPheno.ontology MP:0002829 abnormal juxtaglomerular apparatus morphology MP:0002829 any structural anomaly of the complex of modified smooth muscle cells consisting of juxtaglomerular cells, extraglomerular mesangium lacis cells, the macula densa of the distal convoluted tubule, and granular epithelial peripolar cells; these cells are found in the walls of afferent and efferent glomerular arterioles MESH:A05.810.453.324.359.520 https://orcid.org/0000-0002-0371-1954 caliculi in the gallbladder or a bile duct; chemical composition of cholesterol, calcium carbonate or calcium bilirubinate biliary caliculi cholelithiasis gall stone MPheno.ontology MP:0002830 gallstones MP:0002830 caliculi in the gallbladder or a bile duct; chemical composition of cholesterol, calcium carbonate or calcium bilirubinate ISBN:0-683-40008-8 MESH:C06.130.409.633 MGI:il lymphoid tissue missing from the mucosa of the small intestine absence of Peyer's patches MPheno.ontology MP:0002831 absent Peyer's patches MP:0002831 lymphoid tissue missing from the mucosa of the small intestine MESH:A10.549.600 hair shafts that are twisted or coiled and are of uneven thickness produce an overall rugged or uneven appearance and roughness to the touch MPheno.ontology MP:0002832 coarse hair MP:0002832 hair shafts that are twisted or coiled and are of uneven thickness produce an overall rugged or uneven appearance and roughness to the touch MGI:llw2 https://orcid.org/0000-0003-3691-0324 greater than average weight of the heart compared to controls MPheno.ontology MP:0002833 increased heart weight MP:0002833 greater than average weight of the heart compared to controls RGD:cur less than average weight of the heart compared to controls reduced heart weight MPheno.ontology MP:0002834 decreased heart weight MP:0002834 less than average weight of the heart compared to controls RGD:cur any structural anomaly of the dense, fibrous connective tissue joint between the bones of the head abnormal cranial sutures MPheno.ontology MP:0002835 abnormal cranial suture morphology MP:0002835 any structural anomaly of the dense, fibrous connective tissue joint between the bones of the head MESH:A02.835.232.781.200 https://orcid.org/0000-0002-0371-1954 any structural anomaly of the outermost extraembryonic membrane MPheno.ontology MP:0002836 abnormal chorion morphology MP:0002836 any structural anomaly of the outermost extraembryonic membrane MESH:A10.615.284.473 a condition characterized by the localized deposition of calcium salts in the heart; often occurring in association with inflammation or atherosclerotic lesions and other pathological states calcified heart dystrophic cardiac cutis heart calcification MPheno.ontology MP:0002837 dystrophic cardiac calcinosis MP:0002837 a condition characterized by the localized deposition of calcium salts in the heart; often occurring in association with inflammation or atherosclerotic lesions and other pathological states ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 less likely to be stricken by dystrophic cardiac calcinosis increased resistance to dystrophic cardiac calcinosis MPheno.ontology MP:0002838 decreased susceptibility to dystrophic cardiac calcinosis MP:0002838 less likely to be stricken by dystrophic cardiac calcinosis MGI:il more likely to be stricken by dystrophic cardiac calcinosis decreased resistance to dystrophic cardiac calcinosis MPheno.ontology MP:0002839 increased susceptibility to dystrophic cardiac calcinosis MP:0002839 more likely to be stricken by dystrophic cardiac calcinosis MGI:il any structural anomaly of the elongated cells of the crystalline lens of the eye abnormal lens fibre morphology MPheno.ontology MP:0002840 abnormal lens fiber morphology MP:0002840 any structural anomaly of the elongated cells of the crystalline lens of the eye ISBN:0-683-40008-8 inability or reduced ability of the skeletal muscle to shorten or to develop increased tension MP:0000739 impaired striated muscle contractility MPheno.ontology MP:0002841 impaired skeletal muscle contractility MP:0002841 inability or reduced ability of the skeletal muscle to shorten or to develop increased tension ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 increased tension of the blood within the systemic arteries high blood pressure MPheno.ontology MP:0002842 increased systemic arterial blood pressure MP:0002842 increased tension of the blood within the systemic arteries https://orcid.org/0000-0003-3691-0324 decreased tension of the blood within the systemic arteries low blood pressure reduced blood pressure MPheno.ontology MP:0002843 decreased systemic arterial blood pressure MP:0002843 decreased tension of the blood within the systemic arteries https://orcid.org/0000-0003-3691-0324 increase in the bulk size of the aorta MPheno.ontology MP:0002844 aortic hypertrophy MP:0002844 increase in the bulk size of the aorta RGD:cur anomaly in the average weight of the aorta abnormal aorta weight MPheno.ontology MP:0002845 abnormal aortic weight MP:0002845 anomaly in the average weight of the aorta RGD:cur altered physical volume or bulk of the aorta MPheno.ontology MP:0002846 abnormal aortic mass MP:0002846 altered physical volume or bulk of the aorta RGD:cur anomaly in the rate of the process in which plasma is filtered through the glomerular membrane, which consists of capillary endothelial cells, the basement membrane, and epithelial cells; the glomerular filtrate is the same as plasma except it has no significant amount of protein abnormal GFR abnormal kidney glomerular filtration rate MPheno.ontology MP:0002847 abnormal renal glomerular filtration rate MP:0002847 anomaly in the rate of the process in which plasma is filtered through the glomerular membrane, which consists of capillary endothelial cells, the basement membrane, and epithelial cells; the glomerular filtrate is the same as plasma except it has no significant amount of protein GO:0003094 OBSOLETE. MPheno.ontology MP:0002848 obsolete increased surface glomeruli true MP:0002848 OBSOLETE. https://orcid.org/0000-0003-3691-0324 anomaly in the amount of saccharin consumed in relation to other food MPheno.ontology MP:0002849 abnormal saccharin consumption MP:0002849 anomaly in the amount of saccharin consumed in relation to other food RGD:cur subjects demonstrate predilection for saccharine over other offered substance MPheno.ontology MP:0002850 saccharin preference MP:0002850 subjects demonstrate predilection for saccharine over other offered substance RGD:cur altered concentration of sulfate in the blood MPheno.ontology MP:0002851 abnormal circulating sulfate level MP:0002851 altered concentration of sulfate in the blood https://orcid.org/0000-0002-0371-1954 abnormally high concentration of sulfate in the circulating blood hypersulfataemia hypersulphataemia MPheno.ontology MP:0002852 hypersulfatemia MP:0002852 abnormally high concentration of sulfate in the circulating blood J:86561 abnormally low concentration of sulfate in the circulating blood hyposulfataemia hyposulphataemia MPheno.ontology MP:0002853 hyposulfatemia MP:0002853 abnormally low concentration of sulfate in the circulating blood J:86561 true MP:0002854 any structural anomaly of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve) cranial ganglion VIII abnormal Corti ganglion abnormal auditory ganglion abnormal cochlear ganglia morphology abnormal spiral ganglion of vestibulocochlear (VIII) nerve MPheno.ontology MP:0002855 abnormal cochlear ganglion morphology MP:0002855 any structural anomaly of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve) ISBN:0-683-40008-8 any structural anomaly of the group of neurons associated with the vestibular part of the eighth cranial nerve that are involved in equilibration cranial ganglion VIII abnormal Scarpa ganglion abnormal vestibular ganglia morphology abnormal vestibular ganglion of the vestibulocochlear (VIII) nerve MPheno.ontology MP:0002856 abnormal vestibular ganglion morphology MP:0002856 any structural anomaly of the group of neurons associated with the vestibular part of the eighth cranial nerve that are involved in equilibration ISBN:0-683-40008-8 loss of neural cell bodies in the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain degeneration of cochlear ganglion degeneration of spiral ganglion MPheno.ontology MP:0002857 cochlear ganglion degeneration MP:0002857 loss of neural cell bodies in the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain ISBN:0-683-40008-8 any structural anomaly of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance MPheno.ontology MP:0002858 abnormal posterior semicircular canal morphology MP:0002858 any structural anomaly of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance ISBN:0-683-40008-8 any structural anomaly or mistiming of the fusion of the canal primordia during development MPheno.ontology abnormal canal fusion MP:0002859 abnormal inner ear canal fusion MP:0002859 any structural anomaly or mistiming of the fusion of the canal primordia during development J:75619 true MP:0002860 anomalous formation of the primordial region of the embryo that arises to form the tail of the adult; appears approximately ten days following conception as a short stump, and then initiates elongation and thinning in normal development MPheno.ontology MP:0002861 abnormal tail bud morphology MP:0002861 anomalous formation of the primordial region of the embryo that arises to form the tail of the adult; appears approximately ten days following conception as a short stump, and then initiates elongation and thinning in normal development https://orcid.org/0000-0003-3691-0324 altered ability or changed amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position altered righting response MPheno.ontology MP:0002862 abnormal righting response MP:0002862 altered ability or changed amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position ISBN:0-683-40008-8 MGI:hdene faster ability or less amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position MPheno.ontology MP:0002863 improved righting response MP:0002863 faster ability or less amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position ISBN:0-683-40008-8 any structural anomaly of the posterior concave interior of the eye, consisting of the retina, the choroid, the posterior segment of the sclera, the optic disk, and blood vessels, visible by an ophthalmoscope abnormal fundus oculus MPheno.ontology MP:0002864 abnormal ocular fundus morphology MP:0002864 any structural anomaly of the posterior concave interior of the eye, consisting of the retina, the choroid, the posterior segment of the sclera, the optic disk, and blood vessels, visible by an ophthalmoscope MESH:A09.371.729.313 reduced length of time to reach a developmental stage or stages MPheno.ontology MP:0002865 increased growth rate MP:0002865 reduced length of time to reach a developmental stage or stages J:32208 MGI:il aberrant concentration of the enzyme that catalyzes the conversion of glutamate to gamma-aminobutyric acid (GABA) and carbon dioxide, and regulates GABA levels in nervous tissues abnormal GAD level abnormal glutamate decarboxylase level MPheno.ontology MP:0002866 abnormal glutamic acid decarboxylase level MP:0002866 aberrant concentration of the enzyme that catalyzes the conversion of glutamate to gamma-aminobutyric acid (GABA) and carbon dioxide, and regulates GABA levels in nervous tissues MESH:D08.811.520.224.125.250 RGD:cur greater than normal concentration of the enzyme that catalyzes the conversion of glutamate to gamma-aminobutyric acid (GABA) and carbon dioxide and regulates GABA levels in nervous tissues increased GAD level increased glutamate decarboxylase level MPheno.ontology MP:0002867 increased glutamic acid decarboxylase level MP:0002867 greater than normal concentration of the enzyme that catalyzes the conversion of glutamate to gamma-aminobutyric acid (GABA) and carbon dioxide and regulates GABA levels in nervous tissues MESH:D08.811.520.224.125.250 RGD:cur less than normal concentration of the enzyme that catalyzes the conversion of glutamate to gamma-aminobutyric acid (GABA) and carbon dioxide, and regulates GABA levels in nervous tissues decreased glutamate decarboxylase level reduced glutamate decarboxylase level reduced glutamic acid decarboxylase level MPheno.ontology decreased GAD level MP:0002868 decreased glutamic acid decarboxylase level MP:0002868 less than normal concentration of the enzyme that catalyzes the conversion of glutamate to gamma-aminobutyric acid (GABA) and carbon dioxide, and regulates GABA levels in nervous tissues MESH:D08.811.520.224.125.250 RGD:cur elevated level of antibodies to insulin present in the sera MPheno.ontology MP:0002869 increased anti-insulin autoantibody level MP:0002869 elevated level of antibodies to insulin present in the sera https://orcid.org/0000-0003-3691-0324 reduced level of antibodies to insulin present in the sera reduced anti-insulin autoantibody level MPheno.ontology MP:0002870 decreased anti-insulin autoantibody level MP:0002870 reduced level of antibodies to insulin present in the sera https://orcid.org/0000-0003-3691-0324 presence of excess albumin in the urine MP:0005539 increased albumin excretion increased urine albumin level MPheno.ontology MP:0002871 albuminuria MP:0002871 presence of excess albumin in the urine ISBN:0-683-40008-8 RGD:cur an excess of circulating red blood cells increased circulating red blood cell number polycythaemia MPheno.ontology MP:0002872 polycythemia MP:0002872 an excess of circulating red blood cells ISBN:0-683-40008-8 MESH:C15.378.738 no phenotypic distinctions from controls MPheno.ontology fertile viable MP:0002873 grouping class, not used for annotations normal phenotype MP:0002873 no phenotypic distinctions from controls https://orcid.org/0000-0003-4606-0597 decrease in the total hemoglobin content in the circulating blood decreased haemoglobin content reduced haemoglobin content reduced hemoglobin content MPheno.ontology MP:0002874 decreased hemoglobin content MP:0002874 decrease in the total hemoglobin content in the circulating blood https://orcid.org/0000-0003-3691-0324 reduced number of the cells that transport oxygen, red blood cells, per unit decreased RBC count decreased definitive erythrocyte cell number decreased erythrocyte count decreased red blood cell count erythrocytopenia erythropenia reduced RBC count reduced definitive erythrocyte cell number reduced erythrocyte cell number reduced erythrocyte count MPheno.ontology reduced red blood cell count MP:0002875 decreased erythrocyte cell number MP:0002875 reduced number of the cells that transport oxygen, red blood cells, per unit https://orcid.org/0000-0003-3691-0324 any functional anomaly of this endocrine gland that normally produces hormones that regulate the metabolic rate of the body abnormal thyroid function abnormal thyroid physiology MPheno.ontology MP:0002876 abnormal thyroid gland physiology MP:0002876 any functional anomaly of this endocrine gland that normally produces hormones that regulate the metabolic rate of the body MESH:A06.407.900 any structural anomaly of the cells that produce pigment abnormal melanocytes MPheno.ontology MP:0002877 Note that significant differences exist among populations of melanocytes that populate the cutaneous tissue compared to melanocytes that populate ocular, auditory, and internal body sites. Extracutaneous melanotcytes synthesize melanosomes and melanin only during a short interval after arriving in their target tissue, and they retain their melanosomes throughout the life of the organism instead of transferring to neighboring cells like dermal melanocytes. General morphology and ultrastructure of extracutaneous melanocytes vary and also differ from cutaneous melanocytes. abnormal melanocyte morphology MP:0002877 any structural anomaly of the cells that produce pigment ISBN:0-683-40008-8 any structural anomaly of the corticospinal fibers that arise from the pyramidal cells within the cerebral cortex layer V of the precentral motor area, the premotor area and the postcentral gyrus, then descend into and through the medulla to form the lateral corticospinal tract and the anterior corticospinal tract abnormal pyramidal tract morphology MPheno.ontology MP:0002878 abnormal corticospinal tract morphology MP:0002878 any structural anomaly of the corticospinal fibers that arise from the pyramidal cells within the cerebral cortex layer V of the precentral motor area, the premotor area and the postcentral gyrus, then descend into and through the medulla to form the lateral corticospinal tract and the anterior corticospinal tract ISBN:0-683-40008-8 increased incidence of cell death following exposure to X-ray irradiation decreased cellular resistance to X-ray irradiation increased cellular susceptibility to X-ray irradiation MPheno.ontology MP:0002879 increased cellular sensitivity to X-ray irradiation MP:0002879 increased incidence of cell death following exposure to X-ray irradiation RGD:cur a form of tetanic spasm in which the head, neck and spine are bent backward and the body is bowed forward opisthotonos MPheno.ontology MP:0002880 Stedman's Medical Dictionary states that both the -us and the -os spellings are correct and synonymous. opisthotonus MP:0002880 a form of tetanic spasm in which the head, neck and spine are bent backward and the body is bowed forward ISBN:0-683-40008-8 increased average length of the coat hairs increased hair length MPheno.ontology MP:0002881 long hair MP:0002881 increased average length of the coat hairs https://orcid.org/0000-0003-3691-0324 any structural anomaly of the cells of the nervous system that receive, conduct, and transmit impulses neuron dysplasia MPheno.ontology MP:0002882 abnormal neuron morphology MP:0002882 any structural anomaly of the cells of the nervous system that receive, conduct, and transmit impulses MESH:A08.663 the dissolution of the granules of chromophil substance in a nerve cell body that may occur in injured cells or axons MPheno.ontology MP:0002883 chromatolysis MP:0002883 the dissolution of the granules of chromophil substance in a nerve cell body that may occur in injured cells or axons MGI:dlb any structural anomaly of the transient structures of the embryo that develop into regions of the head, neck and ears abnormal branchial arch morphology abnormal branchial arches abnormal pharyngeal arches MPheno.ontology MP:0002884 abnormal pharyngeal arch morphology MP:0002884 any structural anomaly of the transient structures of the embryo that develop into regions of the head, neck and ears https://orcid.org/0000-0003-3691-0324 change in the measured amplitude, current density or duration of response to stimulation of AMPA receptors MPheno.ontology MP:0002885 abnormal AMPA-mediated synaptic currents MP:0002885 change in the measured amplitude, current density or duration of response to stimulation of AMPA receptors https://orcid.org/0000-0003-3691-0324 change in the measured amplitude, current density or duration of response to stimulation of glutamatergic receptors abnormal glutamate receptor currents MPheno.ontology MP:0002886 abnormal glutamate-mediated receptor currents MP:0002886 change in the measured amplitude, current density or duration of response to stimulation of glutamatergic receptors ISBN:0838580343 ability to withstand doses of pharmacological drugs that induce seizure activity in normal animals; exhibit a higher threshold to induce seizure activity resistance to pharmacologically induced seizures MPheno.ontology increased resistance to pharmacologically induced seizures MP:0002887 decreased susceptibility to pharmacologically induced seizures MP:0002887 ability to withstand doses of pharmacological drugs that induce seizure activity in normal animals; exhibit a higher threshold to induce seizure activity https://orcid.org/0000-0003-3691-0324 change in the measured amplitude, current density or duration of response to stimulation of NMDA receptors MPheno.ontology MP:0002888 abnormal NMDA-mediated synaptic currents MP:0002888 change in the measured amplitude, current density or duration of response to stimulation of NMDA receptors https://orcid.org/0000-0003-3691-0324 true MP:0002889 true MP:0002890 greater ability to clear glucose from the bloodstream when given insulin than normal; can result in hypoglycemia MPheno.ontology MP:0002891 increased insulin sensitivity MP:0002891 greater ability to clear glucose from the bloodstream when given insulin than normal; can result in hypoglycemia RGD:cur decreased size of the paired superior eminence of the mesencephalic tectum decreased anterior quadrigeminal body size decreased corpora quadrigeminum posterius anterius size decreased size of superior colliculus reduced size of superior colliculus reduced superior colliculus size MPheno.ontology MP:0002892 decreased superior colliculus size MP:0002892 decreased size of the paired superior eminence of the mesencephalic tectum https://orcid.org/0000-0003-3691-0324 elevated amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acetone in the urine, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus increased urine ketone body level ketonuria MPheno.ontology MP:0002893 ketoaciduria MP:0002893 elevated amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acetone in the urine, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus ISBN:0-683-40008-8 any structural anomaly of the crystalline particles composed of calcium carbonate and a protein which adhere to the gelatinous membrane of the maculae of the utricle and saccule (otolithic membrane) abnormal ear crystals abnormal otoconia abnormal otoconial crystal morphology abnormal statoconia abnormal statoliths MPheno.ontology abnormal otoliths MP:0002894 abnormal otolith morphology MP:0002894 any structural anomaly of the crystalline particles composed of calcium carbonate and a protein which adhere to the gelatinous membrane of the maculae of the utricle and saccule (otolithic membrane) ISBN:0-683-40008-8 MGI:llw2 any structural anomaly of the gelatinous membrane which is supported by the stereocilia of the hair cells of the maculae of the saccule and utriculus of the inner ear; adhering to its surface are numerous calciferous crystalline particles called otoliths (statoconia) abnormal membrana statoconiorum abnormal octoconial membrane morphology abnormal otolithic part of statoconial membrane morphology MPheno.ontology MP:0002895 abnormal otolithic membrane morphology MP:0002895 any structural anomaly of the gelatinous membrane which is supported by the stereocilia of the hair cells of the maculae of the saccule and utriculus of the inner ear; adhering to its surface are numerous calciferous crystalline particles called otoliths (statoconia) MESH:A09.246.631.909.625.125.680 https://orcid.org/0000-0002-6490-7723 defect in the process by which minerals are deposited into bone MPheno.ontology MP:0002896 abnormal bone mineralization MP:0002896 defect in the process by which minerals are deposited into bone https://orcid.org/0000-0003-3691-0324 regions of spotted discoloration appearing in the dermal tissue MPheno.ontology MP:0002897 blotchy skin MP:0002897 regions of spotted discoloration appearing in the dermal tissue https://orcid.org/0000-0003-3691-0324 absence of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life MPheno.ontology MP:0002898 absent cartilage MP:0002898 absence of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life ISBN:0-683-40008-8 easily exhausted due to mental or physical exertion fatigability fatigable MPheno.ontology MP:0002899 fatigue MP:0002899 easily exhausted due to mental or physical exertion ISBN:0-683-40008-8 MGI:hdene any change in the amount of phosphate in the urine MPheno.ontology MP:0002900 abnormal urine phosphate level MP:0002900 any change in the amount of phosphate in the urine https://orcid.org/0000-0003-3691-0324 an increase in phosphate amount in the urine hyperphosphaturia increased urinary phosphate level MPheno.ontology MP:0002901 increased urine phosphate level MP:0002901 an increase in phosphate amount in the urine ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 reduced phosphate amount in the urine hypophosphaturia reduced urine phosphate level MPheno.ontology MP:0002902 decreased urine phosphate level MP:0002902 reduced phosphate amount in the urine ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 anomaly in the blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body abnormal circulating PTH level abnormal circulating level of parathyroid hormone MPheno.ontology MP:0002903 abnormal circulating parathyroid hormone level MP:0002903 anomaly in the blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body MESH:D06.472.699.590 https://orcid.org/0000-0002-0371-1954 greater blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body increased circulating PTH level increased circulating level of parathyroid hormone MPheno.ontology MP:0002904 increased circulating parathyroid hormone level MP:0002904 greater blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body MESH:D06.472.699.590 https://orcid.org/0000-0002-0371-1954 reduction in the blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body decreased circulating PTH level decreased circulating level of parathyroid hormone reduced circulating parathyroid hormone level MPheno.ontology MP:0002905 decreased circulating parathyroid hormone level MP:0002905 reduction in the blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body MESH:D06.472.699.590 https://orcid.org/0000-0002-0371-1954 inability to withstand doses of pharmacological drugs that induce seizure activity in normal animals; exhibit a lower threshold to induce seizure activity decreased resistance to pharmacologically induced seizures MPheno.ontology susceptibility to pharmacologically induced seizures MP:0002906 increased susceptibility to pharmacologically induced seizures MP:0002906 inability to withstand doses of pharmacological drugs that induce seizure activity in normal animals; exhibit a lower threshold to induce seizure activity https://orcid.org/0000-0003-3691-0324 defect in the process of labor and delivery in female animals abnormal childbirth MPheno.ontology MP:0002907 abnormal parturition MP:0002907 defect in the process of labor and delivery in female animals ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 longer time requirement for the ability to self-repair and close wounds than normal MPheno.ontology MP:0002908 delayed wound healing MP:0002908 longer time requirement for the ability to self-repair and close wounds than normal J:63037 any functional anomaly of the suprarenal gland, including the ability to produce and secrete hormones abnormal adrenal gland function MPheno.ontology abnormal adrenal physiology MP:0002909 abnormal adrenal gland physiology MP:0002909 any functional anomaly of the suprarenal gland, including the ability to produce and secrete hormones MGI:hdene any anomaly in the size or duration of currents detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization abnormal EPSCs abnormal excitatory post-synaptic currents MPheno.ontology MP:0002910 abnormal excitatory postsynaptic currents MP:0002910 any anomaly in the size or duration of currents detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization ISBN:0838580343 defect in the membrane potential detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization abnormal IPSP abnormal inhibitory post-synaptic potential MPheno.ontology MP:0002911 abnormal inhibitory postsynaptic potential MP:0002911 defect in the membrane potential detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization ISBN:0838580343 defect in the potential detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization abnormal EPSP abnormal excitatory post-synaptic potential MPheno.ontology MP:0002912 abnormal excitatory postsynaptic potential MP:0002912 defect in the potential detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization ISBN:0838580343 defect in the communication from a neuron to a target across a synapse in the peripheral nervous system MPheno.ontology MP:0002913 abnormal PNS synaptic transmission MP:0002913 defect in the communication from a neuron to a target across a synapse in the peripheral nervous system MESH:G04.335.880.850 defect in the excitatory response of peripheral synapses to stimulation; these amplitudes are larger than central synapse potentials abnormal EPP activity abnormal end plate potential activity MPheno.ontology MP:0002914 abnormal endplate potential MP:0002914 defect in the excitatory response of peripheral synapses to stimulation; these amplitudes are larger than central synapse potentials ISBN:0838580343 changes in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation MPheno.ontology MP:0002915 abnormal synaptic depression MP:0002915 changes in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation ISBN:0838580343 increase in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation MPheno.ontology MP:0002916 increased synaptic depression MP:0002916 increase in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation ISBN:0838580343 decrease in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation reduced synaptic depression MPheno.ontology MP:0002917 decreased synaptic depression MP:0002917 decrease in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation ISBN:0838580343 defects in the enhanced response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus abnormal PPF abnormal paired pulse facilitation MPheno.ontology MP:0002918 abnormal paired-pulse facilitation MP:0002918 defects in the enhanced response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus ISBN:0838580343 increase in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to greater increase of neurotransmitter release at the second stimulus enhanced PPF enhanced paired pulse facilitation MPheno.ontology MP:0002919 enhanced paired-pulse facilitation MP:0002919 increase in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to greater increase of neurotransmitter release at the second stimulus ISBN:0838580343 reduction in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus decreased paired pulse facilitation reduced PPF reduced paired-pulse facilitation MPheno.ontology MP:0002920 decreased paired-pulse facilitation MP:0002920 reduction in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus ISBN:0838580343 defects in the size or duration of potentials that persist after tetanic stimulation of central synapses abnormal PTP MPheno.ontology abnormal post-tetanic potential MP:0002921 abnormal post-tetanic potentiation MP:0002921 defects in the size or duration of potentials that persist after tetanic stimulation of central synapses ISBN:0838580343 reduction in the size or duration of potentials that persist after tetanic stimulation of central synapses decreased PTP reduced post-tetanic potential MPheno.ontology decreased post-tetanic potential MP:0002922 decreased post-tetanic potentiation MP:0002922 reduction in the size or duration of potentials that persist after tetanic stimulation of central synapses ISBN:0838580343 increase in the size or duration of potentials that persist after tetanic stimulation of central synapses increased PTP MPheno.ontology increased post-tetanic potential MP:0002923 increased post-tetanic potentiation MP:0002923 increase in the size or duration of potentials that persist after tetanic stimulation of central synapses ISBN:0838580343 increase in time required to complete the process of generating connections between an axon and effector tissue or neuron MPheno.ontology MP:0002924 delayed CNS synapse formation MP:0002924 increase in time required to complete the process of generating connections between an axon and effector tissue or neuron https://orcid.org/0000-0003-3691-0324 aberrant formation or incomplete differentiation of the cardiovascular system MPheno.ontology MP:0002925 abnormal cardiovascular development MP:0002925 aberrant formation or incomplete differentiation of the cardiovascular system RGD:cur extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus MPheno.ontology MP:0002926 aganglionic megacolon MP:0002926 extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus ISBN:0-683-40008-8 RGD:cur severe non-obstructive dilation of the colon MPheno.ontology MP:0002927 toxic megacolon MP:0002927 severe non-obstructive dilation of the colon ISBN:0-683-40008-8 RGD:cur any structural anomaly of the channels that secrete bile from the liver to the gall bladder and intestines abnormal bile duct bile duct dysplasia MPheno.ontology MP:0002928 abnormal bile duct morphology MP:0002928 any structural anomaly of the channels that secrete bile from the liver to the gall bladder and intestines MESH:A03.159.183 RGD:cur incomplete or aberrant differentiation of the channels that secrete bile from the liver to the gall bladder and intestines MPheno.ontology MP:0002929 abnormal bile duct development MP:0002929 incomplete or aberrant differentiation of the channels that secrete bile from the liver to the gall bladder and intestines MESH:A03.159.183 RGD:cur OBSOLETE. a retrogressive impairment of function, destruction or apoptosis of the sensory epithelial cells of the inner ear MP:0004324 MP:0004362 MPheno.ontology MP:0002930 obsolete hair cell degeneration true MP:0002930 OBSOLETE. a retrogressive impairment of function, destruction or apoptosis of the sensory epithelial cells of the inner ear ISBN:0-683-40008-8 RGD:cur an accumulation of an intermediate of tryptophan catabolism in the urine glutaric aciduria MPheno.ontology MP:0002931 glutaricadicuria MP:0002931 an accumulation of an intermediate of tryptophan catabolism in the urine ISBN:0-683-40008-8 RGD:cur any structural anomaly of the moveable articulation point of two or more bones joint dysplasia MPheno.ontology MP:0002932 abnormal joint morphology MP:0002932 any structural anomaly of the moveable articulation point of two or more bones ISBN:0-683-40008-8 RGD:cur local accumulation of fluid, plasma proteins, and leukocytes in the joints synovitis MPheno.ontology MP:0002933 joint inflammation MP:0002933 local accumulation of fluid, plasma proteins, and leukocytes in the joints RGD:cur synovitis https://www.cancer.gov/publications/dictionaries/cancer-terms/def/synovitis early and often transient reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into the joints; initiated by injury, infection, or local immune response MPheno.ontology MP:0002934 acute joint inflammation MP:0002934 early and often transient reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into the joints; initiated by injury, infection, or local immune response RGD:cur persistent inflammatory response in the joints, often caused by persistent infection or during an autoimmune response MPheno.ontology MP:0002935 chronic joint inflammation MP:0002935 persistent inflammatory response in the joints, often caused by persistent infection or during an autoimmune response RGD:cur enlargement of the joints, usually due to an accumulation of fluid MPheno.ontology MP:0002936 joint swelling MP:0002936 enlargement of the joints, usually due to an accumulation of fluid RGD:cur an increased blood flow to a synovial joint synovial hyperaemia MPheno.ontology MP:0002937 synovial hyperemia MP:0002937 an increased blood flow to a synovial joint ISBN:0-683-40008-8 RGD:cur the appearance of patches of white fur MPheno.ontology MP:0002938 white spotting MP:0002938 the appearance of patches of white fur https://orcid.org/0000-0003-3691-0324 the appearance of a round area of white fur on the head MPheno.ontology MP:0002939 head spot MP:0002939 the appearance of a round area of white fur on the head https://orcid.org/0000-0003-3691-0324 the appearance of patches of white fur at random on the coat MP:0000369 variable white spotting MPheno.ontology piebald MP:0002940 variable body spotting MP:0002940 the appearance of patches of white fur at random on the coat https://orcid.org/0000-0003-3691-0324 increased concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction elevated ALT level elevated GPT level elevated alanine transaminase level elevated glutamate pyruvate transaminase level elevated glutamic-pyruvic transaminase level increased ALT level increased GPT level elevated circulating alanine transaminase level elevated SGPT level increased SGPT level increased serum glutamate pyruvate transaminase level increased serum glutamic-pyruvic transaminase level MPheno.ontology MP:0002941 increased circulating alanine transaminase level MP:0002941 increased concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 decreased concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction decreased ALT level decreased GPT level reduced ALT level reduced GPT level reduced alanine transaminase level reduced glutamate pyruvate transaminase level reduced glutamic-pyruvic transaminase level reduced circulating alanine transaminase level decreased SGPT level decreased serum glutamate pyruvate transaminase level decreased serum glutamic-pyruvic transaminase level reduced SGPT level MPheno.ontology MP:0002942 decreased circulating alanine transaminase level MP:0002942 decreased concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 abnormal level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate abnormal LDH level MPheno.ontology MP:0002943 abnormal lactate dehydrogenase level MP:0002943 abnormal level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate MeSH:D08.811.682.047.551.400 elevated level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate elevated LDH level elevated lactate dehydrogenase level increased LDH level MPheno.ontology MP:0002944 increased lactate dehydrogenase level MP:0002944 elevated level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate MeSH:D08.811.682.047.551.400 defect in the size or duration of currents detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization abnormal IPSCs abnormal inhibitory post-synaptic currents MPheno.ontology MP:0002945 abnormal inhibitory postsynaptic currents MP:0002945 defect in the size or duration of currents detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 an increased amount of time required for an axon to extend from a neuron cell body and find the target delayed axon outgrowth MPheno.ontology MP:0002946 delayed axon extension MP:0002946 an increased amount of time required for an axon to extend from a neuron cell body and find the target GO:0048675 https://orcid.org/0000-0003-3691-0324 greater than the expected number of benign tumors characterized by blood-filled spaces lined by benign endothelial cells, occurring in a specific population in a given time period; a cavernous hemangioma is characterized by large endothelial spaces (caverns), and a capillary hemangioma is characterized by small endothelial spaces increased haemangioma incidence MPheno.ontology angioma haemangioma hemangioma increased angiomoma incidence MP:0002947 increased hemangioma incidence MP:0002947 greater than the expected number of benign tumors characterized by blood-filled spaces lined by benign endothelial cells, occurring in a specific population in a given time period; a cavernous hemangioma is characterized by large endothelial spaces (caverns), and a capillary hemangioma is characterized by small endothelial spaces HP:0001028 https://orcid.org/0000-0003-3691-0324 defects in the developmental patterning of neurons resulting in ectopic placement, decreased numbers or absence of mature neurons abnormal neuronal specification MPheno.ontology MP:0002948 abnormal neuron specification MP:0002948 defects in the developmental patterning of neurons resulting in ectopic placement, decreased numbers or absence of mature neurons J:87948 https://orcid.org/0000-0003-3691-0324 OBSOLETE. defect in the transient and migratory group of cells that emerge from the dorsal region of the neural tube and disperse to many peripheral locations to form various tissues of the adult MP:0009845 MPheno.ontology MP:0002949 obsolete abnormal neural crest cells true MP:0002949 OBSOLETE. defect in the transient and migratory group of cells that emerge from the dorsal region of the neural tube and disperse to many peripheral locations to form various tissues of the adult ISBN:0838580343 any anomaly in the dispersion of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult abnormal NCC migration MPheno.ontology MP:0002950 abnormal neural crest cell migration MP:0002950 any anomaly in the dispersion of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult ISBN:0838580343 reduced size of the endocrine gland located in the front and to the sides of the upper part of the trachea, and which secretes thyroid hormone and calcitonin decreased thyroid gland size reduced thyroid gland size MPheno.ontology MP:0002951 small thyroid gland MP:0002951 reduced size of the endocrine gland located in the front and to the sides of the upper part of the trachea, and which secretes thyroid hormone and calcitonin ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 diseases of the ventricles of the heart MPheno.ontology MP:0002952 ventricular cardiomyopathy MP:0002952 diseases of the ventricles of the heart MGI:cwg increased depth of the cardiac wall of the heart ventricles MPheno.ontology MP:0002953 thick ventricular wall MP:0002953 increased depth of the cardiac wall of the heart ventricles https://orcid.org/0000-0002-6490-7723 OBSOLETE. defect in respiratory chain energy production (oxidative metabolism) process in all living cells where oxygen is consumed and carbon dioxide and water are produced MP:0010951 MP:0010954 MP:0010959 MP:0005622 abnormal cell respiration abnormal mitochondrial energy production abnormal respiratory chain function MPheno.ontology MP:0002954 obsolete abnormal aerobic energy metabolism true MP:0002954 OBSOLETE. defect in respiratory chain energy production (oxidative metabolism) process in all living cells where oxygen is consumed and carbon dioxide and water are produced ISBN:0-683-40008-8 increased additional growth of a kidney upon removal of the other kidney through surgery or disease MPheno.ontology MP:0002955 increased compensatory renal growth MP:0002955 increased additional growth of a kidney upon removal of the other kidney through surgery or disease RGD:cur decreased additional growth of a kidney upon removal of the other kidney through surgery or disease reduced compensatory renal growth MPheno.ontology MP:0002956 decreased compensatory renal growth MP:0002956 decreased additional growth of a kidney upon removal of the other kidney through surgery or disease RGD:cur higher than normal incidence of a malignant neoplasm of epithelial cells in the intestine MPheno.ontology intestinal adenocarcinoma MP:0002957 increased intestinal adenocarcinoma incidence MP:0002957 higher than normal incidence of a malignant neoplasm of epithelial cells in the intestine https://orcid.org/0000-0002-0371-1954 abnormal narrowing or constriction of the cerebral aqueduct that blocks the flow of cerebrospinal fluid (CSF) in the ventricular system aqueduct of Sylvius stenosis aqueduct of midbrain stenosis aqueductal stenosis cerebral aqueduct stenosis mesencephalic duct stenosis stenosis of midbrain cerebral aqueduct MPheno.ontology MP:0002958 Blockage of the cerebral aqueduct can lead to hydrocephalus, specifically as a common cause of congenital and/or obstructive hydrocephalus. cerebral aqueductal stenosis MP:0002958 abnormal narrowing or constriction of the cerebral aqueduct that blocks the flow of cerebrospinal fluid (CSF) in the ventricular system https://en.wikipedia.org/wiki/Aqueductal_stenosis Blockage of the cerebral aqueduct can lead to hydrocephalus, specifically as a common cause of congenital and/or obstructive hydrocephalus. https://www.chop.edu/conditions-diseases/hydrocephalus https://en.wikipedia.org/wiki/Aqueductal_stenosis greater than the normal amount of microalbumin in the urine increased microalbumin excretion microalbuminuria MPheno.ontology MP:0002959 increased urine microalbumin level MP:0002959 greater than the normal amount of microalbumin in the urine RGD:cur less than the normal amount of microalbumin in the urine decreased microalbumin excretion reduced microalbumin excretion MPheno.ontology MP:0002960 decreased urine microalbumin level MP:0002960 less than the normal amount of microalbumin in the urine RGD:cur https://orcid.org/0000-0003-3691-0324 defect in the signaling mechanisms that allow precise navigation and connections of axonal growth cones to effector tissues MPheno.ontology MP:0002961 abnormal axon guidance MP:0002961 defect in the signaling mechanisms that allow precise navigation and connections of axonal growth cones to effector tissues ISBN:0838580343 greater than the normal amount of proteins in the urine MP:0005160 increased protein excretion MPheno.ontology proteinuria MP:0002962 increased urine protein level MP:0002962 greater than the normal amount of proteins in the urine RGD:cur https://orcid.org/0000-0003-3691-0324 less than the normal amount of proteins in the urine decreased protein excretion reduced protein excretion MPheno.ontology MP:0002963 decreased urine protein level MP:0002963 less than the normal amount of proteins in the urine RGD:cur https://orcid.org/0000-0003-3691-0324 focal pathological changes in the elastic lamella of the main trunk of the arterial system MPheno.ontology MP:0002964 aortic elastic tissue lesions MP:0002964 focal pathological changes in the elastic lamella of the main trunk of the arterial system ISBN:0-683-40008-8 RGD:cur blood serum albumin concentration above the normal range hyperalbuminaemia hyperalbuminemia MPheno.ontology MP:0002965 increased circulating serum albumin level MP:0002965 blood serum albumin concentration above the normal range RGD:cur reduced concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters MP:0002967 decreased circulating ALP level reduced circulating ALP level reduced circulating alkaline phosphatase level decreased plasma alkaline phosphatase level decreased serum alkaline phosphatase level reduced plasma alkaline phosphatase level reduced serum alkaline phosphatase level MPheno.ontology MP:0002966 decreased circulating alkaline phosphatase level MP:0002966 reduced concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters ISBN:0-683-40008-8 RGD:cur true MP:0002967 elevated concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters MP:0002775 increased circulating ALP level elevated serum AP level elevated serum alkaline phosphatase level elevated serum level of AP elevated serum level of alkaline phosphatase increased plasma alkaline phosphatase level increased serum alkaline phosphatase level MPheno.ontology MP:0002968 increased circulating alkaline phosphatase level MP:0002968 elevated concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters ISBN:0-683-40008-8 RGD:cur defect in the ability to recall and prefer foods associated with odors recently smelled on the breath of other mice; an indicator of defects in learning and memory of olfactory cues MPheno.ontology MP:0002969 impaired social transmission of food preference MP:0002969 defect in the ability to recall and prefer foods associated with odors recently smelled on the breath of other mice; an indicator of defects in learning and memory of olfactory cues PMID:10792055 any structural anomaly of the connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels MPheno.ontology abnormal white fat morphology MP:0002970 abnormal white adipose tissue morphology MP:0002970 any structural anomaly of the connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels ISBN:0-683-40008-8 any structural anomaly of the thermogenic form of adipose tissue that is composed of brown adipocytes MPheno.ontology abnormal brown fat morphology MP:0002971 abnormal brown adipose tissue morphology MP:0002971 any structural anomaly of the thermogenic form of adipose tissue that is composed of brown adipocytes MESH:A10.165.114.322 altered ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume abnormal fractional shortening (FS) abnormal peak of aortic outflow velocity (PAV) abnormal velocity of circumferential fiber shortening (Vcfc) abnormal velocity of circumferential fibre shortening (Vcfc) abnormal ventricular ejection fraction volume MPheno.ontology MP:0002972 abnormal cardiac muscle contractility MP:0002972 altered ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume ISBN:0-683-40008-8 true MP:0002973 true MP:0002974 increase in size or thickness of the smooth muscle of the vascular wall MPheno.ontology MP:0002975 vascular smooth muscle hypertrophy MP:0002975 increase in size or thickness of the smooth muscle of the vascular wall RGD:cur decrease in size or thickness of the smooth muscle of the vascular wall MPheno.ontology MP:0002976 vascular smooth muscle hypotrophy MP:0002976 decrease in size or thickness of the smooth muscle of the vascular wall RGD:cur OBSOLETE. abnormal development or differentiation of the convex portion of the aorta between the ascending and descending parts of the aorta MP:0010241 MP:0010464 MPheno.ontology MP:0002977 Obsolete. Use instead the terms abnormal aortic arch and aortic arch branch attachment (MP:0010464) and its children or abnormal aortic arch development (MP:0010241). obsolete abnormal patterning of the aortic arch true MP:0002977 OBSOLETE. abnormal development or differentiation of the convex portion of the aorta between the ascending and descending parts of the aorta ISBN:0-683-40008-8 absence of the crystalline calciferous particles adhering to the otolithic membrane absent ear crystals absent otoconia absent otoconial crystals absent statoconia absent statoliths MPheno.ontology MP:0002978 absent otoliths MP:0002978 absence of the crystalline calciferous particles adhering to the otolithic membrane ISBN:0-683-40008-8 OBSOLETE. abnormal response to changes in motion MP:0004742 MPheno.ontology MP:0002979 obsolete abnormal vestibular response true MP:0002979 OBSOLETE. abnormal response to changes in motion https://orcid.org/0000-0003-4606-0597 any anomaly in the responses that control the normal position of the trunk and extremities and/or posture MPheno.ontology abnormal static reflexes MP:0002980 abnormal postural reflex MP:0002980 any anomaly in the responses that control the normal position of the trunk and extremities and/or posture ISBN:0-683-40008-8 a greater than average weight of the bile-secreting exocrine gland increased hepatic weight MPheno.ontology MP:0002981 increased liver weight MP:0002981 a greater than average weight of the bile-secreting exocrine gland MGI:il any anomaly in the orderly movement of a primordial germ cell, a cell specialized to produce haploid gametes, from one site to another during development abnormal PGC migration MPheno.ontology abnormal germ cell migration MP:0002982 abnormal primordial germ cell migration MP:0002982 any anomaly in the orderly movement of a primordial germ cell, a cell specialized to produce haploid gametes, from one site to another during development https://orcid.org/0000-0002-6490-7723 greater number of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain increased retinal ganglion cell number MPheno.ontology MP:0002983 increased retina ganglion cell number MP:0002983 greater number of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain MGI:il https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the retina, typically resulting in decreased size hypoplastic retina retinal hypoplasia MPheno.ontology MP:0002984 retina hypoplasia MP:0002984 decrease in the number of normal cells in normal arrangement in the retina, typically resulting in decreased size ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 any change in the amount of calcium in the urine MPheno.ontology MP:0002985 abnormal urine calcium level MP:0002985 any change in the amount of calcium in the urine https://orcid.org/0000-0003-3691-0324 abnormally low amounts of calcium in the urine hypocalciuria reduced urinary calcium concentration reduced urinary calcium level reduced urine calcium level MPheno.ontology MP:0002986 decreased urine calcium level MP:0002986 abnormally low amounts of calcium in the urine https://orcid.org/0000-0003-3691-0324 changes in the amount of ions in the urine compared to the normal state abnormal urine osmolarity MPheno.ontology MP:0002987 abnormal urine osmolality MP:0002987 changes in the amount of ions in the urine compared to the normal state https://orcid.org/0000-0003-3691-0324 reduction in the amount of ions in the urine compared to the normal state decreased urine osmolarity reduced urine osmolality MPheno.ontology MP:0002988 decreased urine osmolality MP:0002988 reduction in the amount of ions in the urine compared to the normal state https://orcid.org/0000-0003-3691-0324 reduced physical bulk one or both of the organs responsible for urine secretion decreased kidney size reduced kidney size MPheno.ontology MP:0002989 small kidney MP:0002989 reduced physical bulk one or both of the organs responsible for urine secretion https://orcid.org/0000-0003-3691-0324 reduced length of the tube that conducts the urine from the renal pelvis to the bladder MPheno.ontology MP:0002990 short ureter MP:0002990 reduced length of the tube that conducts the urine from the renal pelvis to the bladder ISBN:0-683-40008-8 any functional anomaly of the holocrine glands that secrete sebum into the hair follicles or in hairless areas into ducts al sebaceous gland function MPheno.ontology MP:0002991 abnormal sebaceous gland physiology MP:0002991 any functional anomaly of the holocrine glands that secrete sebum into the hair follicles or in hairless areas into ducts MESH:A10.336.827 abnormal function of the sebaceous gland resulting in changes to the lipid profile secreted onto the hair and skin MPheno.ontology MP:0002992 abnormal sebaceous lipid secretion MP:0002992 abnormal function of the sebaceous gland resulting in changes to the lipid profile secreted onto the hair and skin https://orcid.org/0000-0003-4606-0597 autoimmune joint inflammation, marked by changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures MPheno.ontology MP:0002993 autoimmune arthritis MP:0002993 autoimmune joint inflammation, marked by changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures ISBN:0-683-40008-8 MESH:C05.550.114 true MP:0002994 gonad type is not consistent with chromosomal sex sex-reversed gonad MPheno.ontology MP:0002995 primary sex reversal MP:0002995 gonad type is not consistent with chromosomal sex MGI:llw2 state in which a single recognizable gonad contains both testicular and ovarian tissue MPheno.ontology MP:0002996 ovotestis MP:0002996 state in which a single recognizable gonad contains both testicular and ovarian tissue MGI:llw2 increased size of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens enlarged seminal gland increased seminal vesicle size MPheno.ontology MP:0002997 enlarged seminal vesicle MP:0002997 increased size of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens https://orcid.org/0000-0002-6490-7723 aberrant process of the continuous turnover of bone matrix and mineral that involves a balance of resorption and reactive bone formation by osteoclasts and osteoblasts, respectively GO:0046849 MPheno.ontology MP:0002998 abnormal bone remodeling MP:0002998 aberrant process of the continuous turnover of bone matrix and mineral that involves a balance of resorption and reactive bone formation by osteoclasts and osteoblasts, respectively MESH:G04.185.753.150 https://orcid.org/0000-0002-6490-7723 defects in the restoration of integrity to bone after trauma MPheno.ontology MP:0002999 abnormal bone healing MP:0002999 defects in the restoration of integrity to bone after trauma https://orcid.org/0000-0002-6490-7723 true MP:0003000 true MP:0003001 true MP:0003002 true MP:0003003 true MP:0003004 any structural anomaly of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which then thickens to form the fornix and fibers of the hippocampal commissure abnormal fimbra hippocampus morphology abnormal hippocampus fimbra morphology MPheno.ontology MP:0003005 abnormal hippocampal fimbria morphology MP:0003005 any structural anomaly of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which then thickens to form the fornix and fibers of the hippocampal commissure ISBN:0-683-40008-8 MESH:A08.186.211.464.265 any structural anomaly of the compact, white, heavily myelinated fiber bundle arising from the Ammon horn of the hippocampus in each cerebral hemisphere and projecting to the hypothalamus and the mammillary body abnormal fornix hippocampus morphology abnormal hippocampus fornix morphology MPheno.ontology MP:0003006 abnormal hippocampal fornix morphology MP:0003006 any structural anomaly of the compact, white, heavily myelinated fiber bundle arising from the Ammon horn of the hippocampus in each cerebral hemisphere and projecting to the hypothalamus and the mammillary body ISBN:0-683-40008-8 MESH:A08.186.211.464.265 ectopic location of the thymus primordium, which normally resides in the superior mediastinum and lower part of the neck MPheno.ontology MP:0003007 ectopic thymus MP:0003007 ectopic location of the thymus primordium, which normally resides in the superior mediastinum and lower part of the neck https://orcid.org/0000-0002-6490-7723 greater than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells enhanced LTP enhanced long term potentiation MPheno.ontology MP:0003008 enhanced long-term potentiation MP:0003008 greater than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells ISBN:0838580343 anomaly in the production or cellular release of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells MPheno.ontology MP:0003009 abnormal cytokine secretion MP:0003009 anomaly in the production or cellular release of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells ISBN:0-8153-1691-7 https://orcid.org/0000-0003-4606-0597 reduced sensitivity to lethal doses of ionizing radiation such as ultraviolet light, X-rays, or gamma rays reduced mortality induced by ionizing radiation MPheno.ontology MP:0003010 decreased mortality induced by ionizing radiation MP:0003010 reduced sensitivity to lethal doses of ionizing radiation such as ultraviolet light, X-rays, or gamma rays J:88888 https://orcid.org/0000-0003-4606-0597 increase in time required for the eye to recover its sensitivity in the dark following exposure to bright lights MPheno.ontology MP:0003011 delayed dark adaptation MP:0003011 increase in time required for the eye to recover its sensitivity in the dark following exposure to bright lights J:68444 MGI:hdene Obsolete no description of morphological, physiological or behavioral information presented no phenotype described MPheno.ontology MP:0003012 obsolete no phenotypic analysis true MP:0003012 Obsolete no description of morphological, physiological or behavioral information presented https://orcid.org/0000-0003-3691-0324 true MP:0003013 any structural anomaly of the inner portion of the kidney consisting of the renal pyramids abnormal renal medulla MPheno.ontology MP:0003014 abnormal kidney medulla morphology MP:0003014 any structural anomaly of the inner portion of the kidney consisting of the renal pyramids ISBN:0-683-40008-8 https://orcid.org/0000-0003-4606-0597 aberrant concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood MPheno.ontology MP:0003015 abnormal circulating bicarbonate level MP:0003015 aberrant concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood MESH:D01.200.275.150.100 RGD:cur elevated concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood MPheno.ontology MP:0003016 increased circulating bicarbonate level MP:0003016 elevated concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood MESH:D01.200.275.150.100 RGD:cur reduced concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood reduced circulating bicarbonate level MPheno.ontology MP:0003017 decreased circulating bicarbonate level MP:0003017 reduced concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood MESH:D01.200.275.150.100 RGD:cur aberrant chloride concentration in the blood MPheno.ontology MP:0003018 abnormal circulating chloride level MP:0003018 aberrant chloride concentration in the blood RGD:cur elevated chloride concentration in the blood hyperchloraemia hyperchloremia MPheno.ontology MP:0003019 increased circulating chloride level MP:0003019 elevated chloride concentration in the blood RGD:cur reduced chloride concentration in the blood hypochloraemia hypochloremia reduced circulating chloride level MPheno.ontology MP:0003020 decreased circulating chloride level MP:0003020 reduced chloride concentration in the blood RGD:cur aberrant rate of blood flow in the blood vessels supplying the heart MPheno.ontology MP:0003021 abnormal coronary flow rate MP:0003021 aberrant rate of blood flow in the blood vessels supplying the heart RGD:cur elevated rate of blood flow in the blood vessels supplying the heart MPheno.ontology MP:0003022 increased coronary flow rate MP:0003022 elevated rate of blood flow in the blood vessels supplying the heart RGD:cur reduced rate of blood flow in the blood vessels supplying the heart reduced coronary flow rate MPheno.ontology MP:0003023 decreased coronary flow rate MP:0003023 reduced rate of blood flow in the blood vessels supplying the heart RGD:cur abnormal narrowing or constriction of any of the blood vessels supplying the heart coronary artery disease MPheno.ontology MP:0003024 coronary artery stenosis MP:0003024 abnormal narrowing or constriction of any of the blood vessels supplying the heart ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 greater ability to constrict the nonstriated, involuntary muscle tissue of the blood vessels MP:0005588 increased vascular smooth muscle contraction MPheno.ontology MP:0003025 increased vasoconstriction MP:0003025 greater ability to constrict the nonstriated, involuntary muscle tissue of the blood vessels ISBN:0-683-40008-8 RGD:cur reduced ability to constrict the nonstriated, involuntary muscle tissue of the blood vessels MP:0005589 decreased vascular smooth muscle contraction reduced vascular smooth muscle contraction reduced vasoconstriction MPheno.ontology MP:0003026 decreased vasoconstriction MP:0003026 reduced ability to constrict the nonstriated, involuntary muscle tissue of the blood vessels ISBN:0-683-40008-8 RGD:cur anomaly in the function of the buffer systems of the blood in combination with the respiratory and renal systems that control the relative acidity or alkalinity of the blood, as measured by the concentration of the hydrogen ion MPheno.ontology MP:0003027 abnormal blood pH regulation MP:0003027 anomaly in the function of the buffer systems of the blood in combination with the respiratory and renal systems that control the relative acidity or alkalinity of the blood, as measured by the concentration of the hydrogen ion RGD:cur https://orcid.org/0000-0003-3691-0324 a pathological condition characterized by a decrease in the hydrogen ion concentration in tissues and in blood; caused by an increase in the concentration of alkaline compounds, or by a decrease in the concentration of acidic compounds or carbon dioxide to the body fluids MPheno.ontology MP:0003028 alkalosis MP:0003028 a pathological condition characterized by a decrease in the hydrogen ion concentration in tissues and in blood; caused by an increase in the concentration of alkaline compounds, or by a decrease in the concentration of acidic compounds or carbon dioxide to the body fluids ISBN:0-683-40008-8 RGD:cur https://orcid.org/0000-0003-0431-8641 decreased concentration of H-ion in the blood or a rise in pH in the arterial blood alkalaemia MPheno.ontology MP:0003029 alkalemia MP:0003029 decreased concentration of H-ion in the blood or a rise in pH in the arterial blood ISBN:0-683-40008-8 RGD:cur https://orcid.org/0000-0003-0431-8641 increased concentration of H-ion in the blood or a fall below normal in pH in the arterial blood acidaemia MPheno.ontology MP:0003030 acidemia MP:0003030 increased concentration of H-ion in the blood or a fall below normal in pH in the arterial blood ISBN:0-683-40008-8 RGD:cur https://orcid.org/0000-0003-0431-8641 a pathological state characterized by an increase in the hydrogen ion concentration in tissues and blood caused by an decrease in the concentration of alkaline compounds, or by a increase in the concentration of acidic compounds or carbon dioxide to the body fluids MPheno.ontology MP:0003031 acidosis MP:0003031 a pathological state characterized by an increase in the hydrogen ion concentration in tissues and blood caused by an decrease in the concentration of alkaline compounds, or by a increase in the concentration of acidic compounds or carbon dioxide to the body fluids ISBN:0-683-40008-8 RGD:cur https://orcid.org/0000-0003-0431-8641 reduced concentration of CO2 in the blood, alveoli or other tissues resulting in the decreased pressure of this component of body gases decreased partial CO2 pressure MPheno.ontology MP:0003032 hypocapnia MP:0003032 reduced concentration of CO2 in the blood, alveoli or other tissues resulting in the decreased pressure of this component of body gases ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 deviation from the normal force opposing blood flow in the lung blood vessels MPheno.ontology MP:0003033 abnormal pulmonary vascular resistance MP:0003033 deviation from the normal force opposing blood flow in the lung blood vessels RGD:cur greater than the normal force opposing blood flow in the lung blood vessels MPheno.ontology MP:0003034 increased pulmonary vascular resistance MP:0003034 greater than the normal force opposing blood flow in the lung blood vessels RGD:cur less than the normal force opposing blood flow in the lung blood vessels reduced pulmonary vascular resistance MPheno.ontology MP:0003035 decreased pulmonary vascular resistance MP:0003035 less than the normal force opposing blood flow in the lung blood vessels RGD:cur homeotic transformation of a specific vertebrae to adopt the fate of another MP:0000144 MP:0000145 MP:0000146 MP:0000147 transitional vertebrae vertebral homeotic transformation transformation of C7 to T1 transformation of L6 to S1 transformation of T7 to T8 transformation of TX to L1 MPheno.ontology MP:0003036 vertebral transformation MP:0003036 homeotic transformation of a specific vertebrae to adopt the fate of another https://orcid.org/0000-0003-3691-0324 increased size of necrotic area of the myocardium resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors increased myocardium infarct size MPheno.ontology MP:0003037 increased myocardial infarct size MP:0003037 increased size of necrotic area of the myocardium resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors ISBN:0-683-40008-8 RGD:cur decreased size of necrotic area of the myocardium resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors decreased myocardium infarct size reduced myocardial infarct size reduced myocardium infarct size MPheno.ontology MP:0003038 decreased myocardial infarct size MP:0003038 decreased size of necrotic area of the myocardium resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors ISBN:0-683-40008-8 RGD:cur increased duration of time from normal necessary to achieve full irreversible contraction of the cardiac muscle in response to myocardial infarction increased time of peak ischaemic contracture MPheno.ontology MP:0003039 increased time of peak ischemic contracture MP:0003039 increased duration of time from normal necessary to achieve full irreversible contraction of the cardiac muscle in response to myocardial infarction ISBN:0-683-40008-8 RGD:cur decreased duration of time from normal necessary to achieve full irreversible contraction of the cardiac muscle in response to myocardial infarction decreased time of peak ischaemic contracture reduced time of peak ischaemic contracture reduced time of peak ischemic contracture MPheno.ontology MP:0003040 decreased time of peak ischemic contracture MP:0003040 decreased duration of time from normal necessary to achieve full irreversible contraction of the cardiac muscle in response to myocardial infarction ISBN:0-683-40008-8 RGD:cur increased duration of time from normal necessary to initiate the irreversible contraction of the cardiac muscle in response to induced myocardial infarction increased time of onset of induced ischaemic contracture MPheno.ontology MP:0003041 increased time of onset of induced ischemic contracture MP:0003041 increased duration of time from normal necessary to initiate the irreversible contraction of the cardiac muscle in response to induced myocardial infarction ISBN:0-683-40008-8 RGD:cur decreased duration of time from normal necessary to initiate the irreversible contraction of the cardiac muscle in response to induced myocardial infarction decreased time of onset of induced ischaemic contracture reduced time of onset of induced ischaemic contracture reduced time of onset of induced ischemic contracture MPheno.ontology MP:0003042 decreased time of onset of induced ischemic contracture MP:0003042 decreased duration of time from normal necessary to initiate the irreversible contraction of the cardiac muscle in response to induced myocardial infarction ISBN:0-683-40008-8 RGD:cur decreased sensitivity to painful stimuli; can be due to chemical intervention, neuropathies or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area) increased pain threshold MPheno.ontology MP:0003043 hypoalgesia MP:0003043 decreased sensitivity to painful stimuli; can be due to chemical intervention, neuropathies or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area) MESH:C10.597.751.791.400 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 defect in the development of the extracellular supportive tissue closely adjacent to the basal surface of the epithelium of muscle cells, fat cells and Schwann cells, which is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components impaired basement lamina formation MPheno.ontology MP:0003044 impaired basement membrane formation MP:0003044 defect in the development of the extracellular supportive tissue closely adjacent to the basal surface of the epithelium of muscle cells, fat cells and Schwann cells, which is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components ISBN:0-683-40008-8 invasion of fibrous connective tissue into any organ or multiple organs, often resulting from inflammation or injury MPheno.ontology MP:0003045 This term is not specific and has been removed. Additional classes for fibrosis in anatomical locations have been added obsolete fibrosis true MP:0003045 invasion of fibrous connective tissue into any organ or multiple organs, often resulting from inflammation or injury MESH:C23.550.355 https://orcid.org/0000-0002-6490-7723 liver disease in which the occurrence of fibrotic nodules cause diffuse damage to parenchymal cells, disruptions in microcirculation, vascular anatomy and hepatic architecture, resulting in hepatic dysfunction and ultimately, hepatic failure hepatic cirrhosis MPheno.ontology MP:0003046 liver cirrhosis MP:0003046 liver disease in which the occurrence of fibrotic nodules cause diffuse damage to parenchymal cells, disruptions in microcirculation, vascular anatomy and hepatic architecture, resulting in hepatic dysfunction and ultimately, hepatic failure ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any structural anomaly of any or all of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae MPheno.ontology MP:0003047 abnormal thoracic vertebrae morphology MP:0003047 any structural anomaly of any or all of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae MESH:A02.835.232.834.892 https://orcid.org/0000-0003-3691-0324 any structural anomaly of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull MPheno.ontology MP:0003048 abnormal cervical vertebrae morphology MP:0003048 any structural anomaly of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull MESH:A02.835.232.834.151 https://orcid.org/0000-0003-3691-0324 any structural anomaly of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae MPheno.ontology MP:0003049 abnormal lumbar vertebrae morphology MP:0003049 any structural anomaly of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae MESH:A02.835.232.834.519 https://orcid.org/0000-0003-3691-0324 any structural anomaly of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae MPheno.ontology MP:0003050 In humans, vertebrae S1-S5 are normally fused in maturity, with no intervertebral discs. In rodents, these vertebrae remain distinct in adulthood. abnormal sacral vertebrae morphology MP:0003050 any structural anomaly of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae https://orcid.org/0000-0003-3691-0324 a loop or corkscrew-like curl in the tail curled tail loop tail looptail twisted tail MPheno.ontology MP:0003051 curly tail MP:0003051 a loop or corkscrew-like curl in the tail https://orcid.org/0000-0003-3691-0324 protrusion of abdominal viscera at the base of the umbilical cord, with a covering membranous sac of peritoneum-amnion, that is caused by a severe body wall defect Fyler:4404 amniocele exomphalos exumbilication MPheno.ontology MP:0003052 Do not confuse with umbilical hernia - caused by a failure to retract the umbilical hernia that occurs normally during development. omphalocele MP:0003052 protrusion of abdominal viscera at the base of the umbilical cord, with a covering membranous sac of peritoneum-amnion, that is caused by a severe body wall defect ISBN:0-683-40008-8 PMID:20333300 https://orcid.org/0000-0002-6490-7723 postponed onset of the growth of the teeth out of the gums MPheno.ontology MP:0003053 delayed tooth eruption MP:0003053 postponed onset of the growth of the teeth out of the gums https://orcid.org/0000-0002-0371-1954 common congenital midline defect of fusion of the vertebral arch spinal dysraphism Fyler:4157 MPheno.ontology MP:0003054 spina bifida MP:0003054 common congenital midline defect of fusion of the vertebral arch MESH:C10.500.680.800 any structural anomaly of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles abnormal long bone epiphysial plate morphology abnormal long bone growth plate morphology MPheno.ontology MP:0003055 abnormal long bone epiphyseal plate morphology MP:0003055 any structural anomaly of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles MESH:A02.835.232.251.352 any structural anomaly of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles abnormal lingual bone abnormal tongue bone morphology MPheno.ontology MP:0003056 abnormal hyoid bone morphology MP:0003056 any structural anomaly of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles ISBN:0-683-40008-8 MGI:hdene any structural anomaly of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart abnormal visceral serous pericardium of heart morphology abnormal visceral serous pericardium proper morphology MPheno.ontology MP:0003057 abnormal epicardium morphology MP:0003057 any structural anomaly of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 greater production or release of this hormone secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids elevated insulin secretion MPheno.ontology MP:0003058 increased insulin secretion MP:0003058 greater production or release of this hormone secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids MESH:D06.472.699.587.740.625 RGD:cur reduction in the production or release of the hormone secreted by beta cells of the pancreas that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids reduced insulin secretion MPheno.ontology MP:0003059 decreased insulin secretion MP:0003059 reduction in the production or release of the hormone secreted by beta cells of the pancreas that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids MESH:D06.472.699.587.740.625 RGD:cur greater ability to run at defined speeds and/or distances compared to controls MPheno.ontology MP:0003060 increased aerobic running capacity MP:0003060 greater ability to run at defined speeds and/or distances compared to controls RGD:cur reduced ability to run at defined speeds and/or distances compared to controls MPheno.ontology MP:0003061 decreased aerobic running capacity MP:0003061 reduced ability to run at defined speeds and/or distances compared to controls RGD:cur altered ability to respond productively to a stressful situation or stimulus, or failure to seek pleasurable stimuli MPheno.ontology MP:0003062 abnormal coping response MP:0003062 altered ability to respond productively to a stressful situation or stimulus, or failure to seek pleasurable stimuli RGD:cur enhanced ability to respond productively to a stressful situation MPheno.ontology MP:0003063 increased coping response MP:0003063 enhanced ability to respond productively to a stressful situation RGD:cur reduced ability to respond productively to a stressful situation reduced coping response MPheno.ontology MP:0003064 decreased coping response MP:0003064 reduced ability to respond productively to a stressful situation RGD:cur anomaly in the amount of copper present in the liver tissue abnormal hepatic copper content abnormal liver copper concentration MPheno.ontology MP:0003065 abnormal liver copper level MP:0003065 anomaly in the amount of copper present in the liver tissue RGD:cur a greater accumulation of copper in the liver tissue compared to controls increased hepatic copper content MPheno.ontology MP:0003066 increased liver copper level MP:0003066 a greater accumulation of copper in the liver tissue compared to controls RGD:cur a reduced amount of copper in the liver tissue compared to controls decreased hepatic copper content reduced hepatic copper content reduced liver copper level MPheno.ontology MP:0003067 decreased liver copper level MP:0003067 a reduced amount of copper in the liver tissue compared to controls RGD:cur larger than average size of the kidney increased kidney size nephromegaly renal enlargement MPheno.ontology MP:0003068 enlarged kidney MP:0003068 larger than average size of the kidney https://orcid.org/0000-0002-0371-1954 any structural anomaly of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance abnormal anterior semicircular canal MPheno.ontology MP:0003069 abnormal superior semicircular canal morphology MP:0003069 any structural anomaly of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 greater or faster ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases vascular leakage MPheno.ontology MP:0003070 increased vascular permeability MP:0003070 greater or faster ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases ISBN:0-683-40008-8 reduced or slower ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases reduced vascular permeability MPheno.ontology MP:0003071 decreased vascular permeability MP:0003071 reduced or slower ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases ISBN:0-683-40008-8 any structural anomaly in the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges MPheno.ontology MP:0003072 abnormal metatarsal bone morphology MP:0003072 any structural anomaly in the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges ISBN:0-683-40008-8 ISBN:978-0028454405 any structural anomaly in the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges MPheno.ontology MP:0003073 abnormal metacarpal bone morphology MP:0003073 any structural anomaly in the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges ISBN:0-683-40008-8 ISBN:978-0028454405 missing all of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges MPheno.ontology MP:0003074 absent metacarpal bones MP:0003074 missing all of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges ISBN:0-683-40008-8 ISBN:978-0028454405 altered response to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of a tissue in the central nervous system abnormal response to CNS ischaemic injury altered response to CNS ischaemic injury altered response to CNS ischemic injury altered response to stroke MPheno.ontology MP:0003075 abnormal response to CNS ischemic injury MP:0003075 altered response to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of a tissue in the central nervous system https://orcid.org/0000-0003-3691-0324 more severe response, such as increased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of all or part of the brain compared to controls MP:0006081 decreased resistance to ischaemic brain injury decreased resistance to ischemic brain injury increased CNS stroke increased susceptibility to ischaemic brain injury MPheno.ontology increased susceptibility to spontaneous CNS ischaemia increased susceptibility to spontaneous CNS ischemia MP:0003076 increased susceptibility to ischemic brain injury MP:0003076 more severe response, such as increased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of all or part of the brain compared to controls https://orcid.org/0000-0002-6490-7723 failure to progress or abnormal progression through the stages of the cell cycle MPheno.ontology MP:0003077 abnormal cell cycle MP:0003077 failure to progress or abnormal progression through the stages of the cell cycle https://orcid.org/0000-0003-4606-0597 absence of the crystalline lens of the eye absence of lens absent lens MPheno.ontology MP:0003078 aphakia MP:0003078 absence of the crystalline lens of the eye ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 reduced or absent inflammatory response in the joints due to chemical or mechanical agents increased resistance to induced joint inflammation MPheno.ontology MP:0003079 decreased susceptibility to induced joint inflammation MP:0003079 reduced or absent inflammatory response in the joints due to chemical or mechanical agents RGD:cur increased ability of directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors increased killer activity competent NK cell cytolysis enhanced NK cell cytolysis increased NK cell mediated cell death increased NK cell mediated cell killing increased NK cell mediated cytolysis increased NK cell mediated cytotoxicity increased natural killer cell mediated cell death increased natural killer cell mediated cell killing increased natural killer cell mediated cytolysis increased natural killer-cell mediated cytolysis MPheno.ontology MP:0003080 increased natural killer cell mediated cytotoxicity MP:0003080 increased ability of directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors GO:0042267 RGD:cur any structural anomaly of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot MPheno.ontology MP:0003081 abnormal soleus morphology MP:0003081 any structural anomaly of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot ISBN:0-683-40008-8 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles MPheno.ontology MP:0003082 abnormal gastrocnemius morphology MP:0003082 any structural anomaly of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles ISBN:0-683-40008-8 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot abnormal TA morphology MPheno.ontology MP:0003083 abnormal tibialis anterior morphology MP:0003083 any structural anomaly of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot ISBN:0-683-40008-8 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles abnormal skeletal muscle fibre morphology MPheno.ontology MP:0003084 abnormal skeletal muscle fiber morphology MP:0003084 any structural anomaly of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles ISBN:0-683-40008-8 https://orcid.org/0000-0003-4606-0597 any structural anomaly in the transient cup-like structure of the epiblast that consists of a single layer of embryonic cells MPheno.ontology MP:0003085 abnormal egg cylinder morphology MP:0003085 any structural anomaly in the transient cup-like structure of the epiblast that consists of a single layer of embryonic cells https://orcid.org/0000-0003-3691-0324 increased fluid in the central canal of the spinal cord hydrorrhachis MPheno.ontology MP:0003086 hydromyelia MP:0003086 increased fluid in the central canal of the spinal cord https://orcid.org/0000-0003-4606-0597 missing fetal membrane which contributes to the formation of the umbilical cord and placenta MPheno.ontology MP:0003087 absent allantois MP:0003087 missing fetal membrane which contributes to the formation of the umbilical cord and placenta ISBN:0-683-40008-8 anomaly in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus abnormal PPI MPheno.ontology MP:0003088 abnormal prepulse inhibition MP:0003088 anomaly in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus J:91131 https://orcid.org/0000-0003-4606-0597 reduction in the normal maximum tension the skin can withstand without tearing brittle skin reduced skin tensile strength MPheno.ontology MP:0003089 decreased skin tensile strength MP:0003089 reduction in the normal maximum tension the skin can withstand without tearing ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 defects in the movement of cells that will develop into muscle cells out of the somites and/or to the appropriate location in the body abnormal myogenic progenitor cell migration MPheno.ontology abnormal muscle progenitor cell migration MP:0003090 abnormal muscle precursor cell migration MP:0003090 defects in the movement of cells that will develop into muscle cells out of the somites and/or to the appropriate location in the body https://orcid.org/0000-0003-4606-0597 any anomaly in the movement of cells from one site to another, often occurring during developmental or chemotactic processes MPheno.ontology MP:0003091 abnormal cell migration MP:0003091 any anomaly in the movement of cells from one site to another, often occurring during developmental or chemotactic processes GO:0016477 https://orcid.org/0000-0003-3691-0324 reduced width of the lamellated connective tissue layer of the cornea decreased corneal stroma thickness reduced corneal stroma thickness MPheno.ontology MP:0003092 decreased cornea stroma thickness MP:0003092 reduced width of the lamellated connective tissue layer of the cornea https://orcid.org/0000-0002-6490-7723 any structural anomaly of the anterior segment of the lamellated connective tissue layer of the cornea abnormal anterior stroma morphology abnormal anterior cornea stroma morphology abnormal anterior corneal stroma morphology abnormal corneal anterior stroma morphology MPheno.ontology MP:0003093 abnormal cornea anterior stroma morphology MP:0003093 any structural anomaly of the anterior segment of the lamellated connective tissue layer of the cornea PMID:12556382 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the posterior segment of the lamellated connective tissue layer of the cornea abnormal posterior stroma morphology abnormal corneal posterior stroma morphology abnormal posterior cornea stroma morphology abnormal posterior corneal stroma morphology MPheno.ontology MP:0003094 abnormal cornea posterior stroma morphology MP:0003094 any structural anomaly of the posterior segment of the lamellated connective tissue layer of the cornea PMID:12556382 https://orcid.org/0000-0002-6490-7723 anomalous differentiation of the lamellated connective tissue layer of the cornea abnormal corneal stroma development MPheno.ontology MP:0003095 abnormal cornea stroma development MP:0003095 anomalous differentiation of the lamellated connective tissue layer of the cornea PMID:12556382 https://orcid.org/0000-0002-6490-7723 anomaly in the normal transmission of light through the cornea; light is reflected or absorbed instead; often due to anomalies in the arrangement of lamella in the corneal stroma MPheno.ontology MP:0003096 increased corneal light-scattering MP:0003096 anomaly in the normal transmission of light through the cornea; light is reflected or absorbed instead; often due to anomalies in the arrangement of lamella in the corneal stroma J:81616 https://orcid.org/0000-0003-3691-0324 altered ability of tendon to maintain tensile strength and load MPheno.ontology MP:0003097 abnormal tendon stiffness MP:0003097 altered ability of tendon to maintain tensile strength and load https://orcid.org/0000-0002-6490-7723 reduced ability of tendon to maintain tensile strength and load reduced tendon stiffness tendon weakness MPheno.ontology MP:0003098 decreased tendon stiffness MP:0003098 reduced ability of tendon to maintain tensile strength and load J:79915 https://orcid.org/0000-0002-6490-7723 part or all of the retinal neural layer is separated from the outer pigmented layer of the retina; may occur with aging or as a result of trauma detached retina retinal detachment MPheno.ontology MP:0003099 retina detachment MP:0003099 part or all of the retinal neural layer is separated from the outer pigmented layer of the retina; may occur with aging or as a result of trauma PMID:38485969 https://orcid.org/0000-0002-6490-7723 optical condition in which only rays from a finite distance from the eye focus on the retina near sight nearsightedness short sight shortsightedness MPheno.ontology MP:0003100 myopia MP:0003100 optical condition in which only rays from a finite distance from the eye focus on the retina J:83544 https://orcid.org/0000-0002-6490-7723 an optical condition involving enlarging of the eye, scleral thinning and frequent detachment of the retina resulting from stress associated with excessive axial elongation MPheno.ontology MP:0003101 high myopia MP:0003101 an optical condition involving enlarging of the eye, scleral thinning and frequent detachment of the retina resulting from stress associated with excessive axial elongation J:83544 https://orcid.org/0000-0002-6490-7723 reduction in the width of the fibrous, outer envelope of the eyeball, the sclera may appear blue as a result of the underlying epithelium showing through blue sclera MPheno.ontology MP:0003102 sclera thinning MP:0003102 reduction in the width of the fibrous, outer envelope of the eyeball, the sclera may appear blue as a result of the underlying epithelium showing through https://orcid.org/0000-0002-6490-7723 deterioration of the liver due to injury or disease, often accompanied by loss of function hepatic degeneration MPheno.ontology MP:0003103 liver degeneration MP:0003103 deterioration of the liver due to injury or disease, often accompanied by loss of function J:91653 https://orcid.org/0000-0003-4606-0597 complete or partial absence of a skull; usually associated with anencephaly absent skull MPheno.ontology MP:0003104 acrania MP:0003104 complete or partial absence of a skull; usually associated with anencephaly https://orcid.org/0000-0002-6490-7723 any structural anomaly of one or both of the two upper chambers of the heart, to which the blood returns from the circulation abnormal heart atria morphology atrial dysplasia MPheno.ontology MP:0003105 abnormal heart atrium morphology MP:0003105 any structural anomaly of one or both of the two upper chambers of the heart, to which the blood returns from the circulation MESH:A07.541.358 https://orcid.org/0000-0003-3691-0324 altered emotional response related to anticipation of specific pain or danger abnormal fear response MPheno.ontology MP:0003106 abnormal fear-related response MP:0003106 altered emotional response related to anticipation of specific pain or danger MGI:CFG alteration in amount of exploration/investigation of a novel object, situation or environment MPheno.ontology MP:0003107 abnormal response to novelty MP:0003107 alteration in amount of exploration/investigation of a novel object, situation or environment MGI:CFG reduced length of the bone that forms the prominence of the cheek decreased zygomatic bone length MPheno.ontology MP:0003108 short zygomatic bone MP:0003108 reduced length of the bone that forms the prominence of the cheek ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 reduced length of the long bone of the thigh decreased femur length MPheno.ontology MP:0003109 short femur MP:0003109 reduced length of the long bone of the thigh ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 absence of the short projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane where the tympanic cavity makes a deep pocket (epitympanic pocket) surrounding the cartilaginous nodule absent malleal processus brevis MPheno.ontology MP:0003110 absent malleus processus brevis MP:0003110 absence of the short projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane where the tympanic cavity makes a deep pocket (epitympanic pocket) surrounding the cartilaginous nodule PMID:12701100 https://orcid.org/0000-0002-6490-7723 any structural anomaly of a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated; in most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing, but in some species, or in specialized cell types, RNA metabolism or DNA replication may be absent abnormal nucleus morphology abnormal nuclear compartment morphology MPheno.ontology MP:0003111 abnormal cell nucleus morphology MP:0003111 any structural anomaly of a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated; in most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing, but in some species, or in specialized cell types, RNA metabolism or DNA replication may be absent GO:0005634 increased size of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism increased parathyroid gland size MPheno.ontology MP:0003112 enlarged parathyroid gland MP:0003112 increased size of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism ISBN:0-683-40008-8 decreased size of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism decreased parathyroid gland size reduced parathyroid gland size MPheno.ontology MP:0003113 small parathyroid gland MP:0003113 decreased size of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism ISBN:0-683-40008-8 presence of melanocytes and/or melanin in either of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism MPheno.ontology MP:0003114 pigmented parathyroid gland MP:0003114 presence of melanocytes and/or melanin in either of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 aberrant differentiation of pulmonary tissues MPheno.ontology MP:0003115 abnormal respiratory system development MP:0003115 aberrant differentiation of pulmonary tissues ISBN:0-683-40008-8 overproduction and deficient calcification of osteoid tissue due to vitamin D deficiency; can lead to skeletal deformities, growth defects, hypocalcemia, and sometimes tetany; skeletal fractures occur frequently MPheno.ontology abnormal bone calcification MP:0003116 rickets MP:0003116 overproduction and deficient calcification of osteoid tissue due to vitamin D deficiency; can lead to skeletal deformities, growth defects, hypocalcemia, and sometimes tetany; skeletal fractures occur frequently ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 true MP:0003117 OBSOLETE. partial or complete failure of the trachea and bronchi to repeatedly divide during development of the lung MP:0011024 MP:0011025 MP:0011027 MPheno.ontology MP:0003118 obsolete abnormal tracheal-bronchial branching morphogenesis true MP:0003118 OBSOLETE. partial or complete failure of the trachea and bronchi to repeatedly divide during development of the lung https://orcid.org/0000-0003-4606-0597 abnormal formation of the organ system that converts ingested food to nutrients and energy MPheno.ontology MP:0003119 abnormal digestive system development MP:0003119 abnormal formation of the organ system that converts ingested food to nutrients and energy https://orcid.org/0000-0003-4606-0597 any structural anomaly of the cartilaginous structures that support the trachea and prevent it from collapsing MPheno.ontology MP:0003120 abnormal tracheal cartilage morphology MP:0003120 any structural anomaly of the cartilaginous structures that support the trachea and prevent it from collapsing J:97123 https://orcid.org/0000-0003-4606-0597 the process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules by a mechanism that is mediated by DNA, is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA sequence genomic imprinting MPheno.ontology MP:0003121 genetic imprinting MP:0003121 the process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules by a mechanism that is mediated by DNA, is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA sequence GO:0071514 the establishment of heritable alterations in the activity of a gene that depend on whether it passed through the maternal germline, but that are not encoded by DNA itself MPheno.ontology MP:0003122 maternal imprinting MP:0003122 the establishment of heritable alterations in the activity of a gene that depend on whether it passed through the maternal germline, but that are not encoded by DNA itself https://orcid.org/0000-0003-3691-0324 establishment of heritable alterations in the activity of a gene that depend on whether it passed through the paternal germline, but that are not encoded by DNA itself MPheno.ontology MP:0003123 paternal imprinting MP:0003123 establishment of heritable alterations in the activity of a gene that depend on whether it passed through the paternal germline, but that are not encoded by DNA itself https://orcid.org/0000-0003-3691-0324 a urethral opening located below the normal location; in males, the abnormally placed opening is usually on the ventral surface of the penis, and in females, the abnormally placed opening is usually in the vagina Fyler:4504 hypospadias hypospadis MPheno.ontology MP:0003124 hypospadia MP:0003124 a urethral opening located below the normal location; in males, the abnormally placed opening is usually on the ventral surface of the penis, and in females, the abnormally placed opening is usually in the vagina ISBN:0683400088 absence of or reduction in the separation of the single opening of the digestive, urinary, and reproductive tracts (cloaca) into multiple isolated openings during development, may result in hypospadia, reduced anogenital distance, or persistent cloaca MPheno.ontology MP:0003125 abnormal septation of the cloaca MP:0003125 absence of or reduction in the separation of the single opening of the digestive, urinary, and reproductive tracts (cloaca) into multiple isolated openings during development, may result in hypospadia, reduced anogenital distance, or persistent cloaca J:91491 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the external feminine genital organs, collectively known as the vulva and composed of the mons pubis, the labia majora and minora, the clitoris, the vestibule of the vagina and its glands, and the opening of the urethra and of the vagina abnormal cunnus morphology abnormal external female genital organs morphology abnormal vulva morphology vulva dysplasia vulval defects MPheno.ontology abnormal external female genitals abnormal organa genitalia feminina externa MP:0003126 abnormal external female genitalia morphology MP:0003126 any structural anomaly of the external feminine genital organs, collectively known as the vulva and composed of the mons pubis, the labia majora and minora, the clitoris, the vestibule of the vagina and its glands, and the opening of the urethra and of the vagina https://orcid.org/0000-0002-6490-7723 any structural anomaly of the small, erectile body located at the anterior end of the vulva MPheno.ontology MP:0003127 abnormal clitoris morphology MP:0003127 any structural anomaly of the small, erectile body located at the anterior end of the vulva ISBN:0-683-40008-8 flattened or spread out clitoris MPheno.ontology MP:0003128 splayed clitoris MP:0003128 flattened or spread out clitoris J:91491 https://orcid.org/0000-0003-4606-0597 persistence of an early embryonic state in which the urinary, genital, and gastrointestinal tracts remain confluent and communicate with the exterior through a single perineal opening; due to failure of the urogenital septum to divide the embryonic cloaca into rectal and urogenital portions cloacogenic bladder congenital cloaca MPheno.ontology urogenital sinus MP:0003129 Note that the term "urogenital sinus" may refer to the primitive urogenital sinus present as a transient developmental structure in most mammals or it may refer to a condition in which an unseptated cloaca persists in animals longer than normal. persistent cloaca MP:0003129 persistence of an early embryonic state in which the urinary, genital, and gastrointestinal tracts remain confluent and communicate with the exterior through a single perineal opening; due to failure of the urogenital septum to divide the embryonic cloaca into rectal and urogenital portions https://orcid.org/0000-0002-6490-7723 congenital absence of an anal opening due to the persistence of the epithelial plug (persistence of the anal membrane) or to complete absence of the anal canal Fyler:4402 Fyler:4443 atresia ani imperforate anus proctatresia MPheno.ontology MP:0003130 anal atresia MP:0003130 congenital absence of an anal opening due to the persistence of the epithelial plug (persistence of the anal membrane) or to complete absence of the anal canal https://orcid.org/0000-0002-6490-7723 greater number of the cells that transport oxygen, red blood cells, per unit increased RBC count increased RBC number increased erythrocyte count increased red blood cell count increased red blood cell number MPheno.ontology increased definitive erythrocyte cell number MP:0003131 increased erythrocyte cell number MP:0003131 greater number of the cells that transport oxygen, red blood cells, per unit https://orcid.org/0000-0003-3691-0324 greater number of progenitor cells that form the B cell component of the immune system increased number of pre-B cells MPheno.ontology MP:0003132 increased pre-B cell number MP:0003132 greater number of progenitor cells that form the B cell component of the immune system ISBN:0-8153-1691-7 https://orcid.org/0000-0003-4606-0597 greater number of cells in the B lymphocyte lineage that undergo D-J rearrangement of the immunoglobulin heavy chain increased number of early pro-B cells MPheno.ontology MP:0003133 increased early pro-B cell number MP:0003133 greater number of cells in the B lymphocyte lineage that undergo D-J rearrangement of the immunoglobulin heavy chain ISBN:0-8153-1691-7 https://orcid.org/0000-0003-4606-0597 greater number of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain increased number of late pro-B cells MPheno.ontology MP:0003134 increased late pro-B cell number MP:0003134 greater number of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain ISBN:0-8153-1691-7 https://orcid.org/0000-0003-4606-0597 greater numbers of progenitors of the erythrocyte lineage increased erythroid precursors MPheno.ontology increased BFU-E number increased CFU-E number increased blast forming unit erythroid number increased burst forming unit erythroid number increased colony forming unit erythroid number increased erythroid stem cell number MP:0003135 increased erythroid progenitor cell number MP:0003135 greater numbers of progenitors of the erythrocyte lineage CL:0000038 https://orcid.org/0000-0003-4606-0597 amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is maximally increased in agouti hair yellow coat colour MPheno.ontology MP:0003136 This term is rodent specific. yellow coat color MP:0003136 amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is maximally increased in agouti hair MGI:llw2 any functional anomaly in the impulse-conducting system composed of modified cardiac muscle and having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart abnormal bundle of Kent conduction abnormal cardiac muscle conduction MPheno.ontology MP:0003137 abnormal impulse conducting system conduction MP:0003137 any functional anomaly in the impulse-conducting system composed of modified cardiac muscle and having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart MESH:A07.541.409 MGI:hdene missing the bony ring at the ear canal to which the tympanic membrane is attached MPheno.ontology MP:0003138 absent tympanic ring MP:0003138 missing the bony ring at the ear canal to which the tympanic membrane is attached https://orcid.org/0000-0002-6490-7723 failure of the fetal connection between the aorta and pulmonary artery to close after birth Fyler:2100 PDA dominant ductus arteriosus patent arterial duct persistent ductus arteriosus MPheno.ontology MP:0003139 patent ductus arteriosus MP:0003139 failure of the fetal connection between the aorta and pulmonary artery to close after birth https://orcid.org/0000-0003-4606-0597 the luminal space of one or both of the upper chambers of the heart is increased in volume or area, usually with an increase of contained fluid atria dilation atrial dilation cardiac atrium dilation dilated atria dilated cardiac atria dilated cardiac atrium dilated heart atria heart atrium dilation MPheno.ontology MP:0003140 dilated heart atrium MP:0003140 the luminal space of one or both of the upper chambers of the heart is increased in volume or area, usually with an increase of contained fluid https://orcid.org/0000-0003-4606-0597 formation of fibrous tissue within the heart often resulting from inflammation or injury MPheno.ontology MP:0003141 cardiac fibrosis MP:0003141 formation of fibrous tissue within the heart often resulting from inflammation or injury https://orcid.org/0000-0003-4606-0597 congenital absence of one or both auricles of the ears MPheno.ontology MP:0003142 anotia MP:0003142 congenital absence of one or both auricles of the ears PMID:10471511 https://orcid.org/0000-0002-6490-7723 increased average size of the crystalline calciferous particles adhering to the otolithic membrane enlarged ear crystals enlarged otoconial crystals enlarged statoconia enlarged statoliths giant otoconia increased otolith size MPheno.ontology MP:0003143 enlarged otoliths MP:0003143 increased average size of the crystalline calciferous particles adhering to the otolithic membrane PMID:11152663 https://orcid.org/0000-0002-6490-7723 reduced average number of the crystalline calciferous particles adhering to the otolithic membrane decreased number of otoliths decreased otoconial crystal number reduced number of otoconia reduced number of otoliths reduced otolith number MPheno.ontology MP:0003144 decreased otolith number MP:0003144 reduced average number of the crystalline calciferous particles adhering to the otolithic membrane https://orcid.org/0000-0002-6490-7723 part or all of the otolithic (otoconial) membrane is abnormally separated from the sensory epithelium (macula) of the utricle and/or saccule detached octoconial membrane detached otolithic part of statoconial membrane MPheno.ontology MP:0003145 detached otolithic membrane MP:0003145 part or all of the otolithic (otoconial) membrane is abnormally separated from the sensory epithelium (macula) of the utricle and/or saccule PMID:22116368 https://orcid.org/0000-0002-6490-7723 absence of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve) absent cochlear ganglia absent spiral ganglion MPheno.ontology MP:0003146 absent cochlear ganglion MP:0003146 absence of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve) ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 absence or agenesis of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound MPheno.ontology MP:0003147 absent cochlea MP:0003147 absence or agenesis of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 a reduction in cochlear coiling or number of turns; in wild-type mice, the cochlea most commonly exhibits one and three-fourth turns reduced cochlear coiling MPheno.ontology MP:0003148 decreased cochlea coiling MP:0003148 a reduction in cochlear coiling or number of turns; in wild-type mice, the cochlea most commonly exhibits one and three-fourth turns https://orcid.org/0000-0002-6490-7723 any structural anomaly of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells; sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair cell membrane potential, transducing sound into electrical signals MPheno.ontology MP:0003149 abnormal tectorial membrane morphology MP:0003149 any structural anomaly of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells; sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair cell membrane potential, transducing sound into electrical signals https://orcid.org/0000-0002-6490-7723 tectorial membrane is abnormally detached from the cochlear epithelium or spiral limbus MPheno.ontology MP:0003150 detached tectorial membrane MP:0003150 tectorial membrane is abnormally detached from the cochlear epithelium or spiral limbus https://orcid.org/0000-0002-6490-7723 complete absence of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti MPheno.ontology MP:0003151 absent tunnel of Corti MP:0003151 complete absence of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti https://orcid.org/0000-0002-6490-7723 abnormal differentiation of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti MPheno.ontology MP:0003152 abnormal pillar cell differentiation MP:0003152 abnormal differentiation of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti https://orcid.org/0000-0002-6490-7723 early average time for the first postnatal eye opening early eye lid opening MPheno.ontology MP:0003153 In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later. early eyelid opening MP:0003153 early average time for the first postnatal eye opening J:92240 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult abnormal velum abnormal velum palatinum MPheno.ontology MP:0003154 abnormal soft palate morphology MP:0003154 any structural anomaly of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult https://orcid.org/0000-0003-4606-0597 abnormal length of the terminal repetitive DNA section of a chromosome that is involved in chromosomal replication and senescence and protects the end of the chromosome from deterioration; normal length is a few hundred base pairs MPheno.ontology MP:0003155 abnormal telomere length MP:0003155 abnormal length of the terminal repetitive DNA section of a chromosome that is involved in chromosomal replication and senescence and protects the end of the chromosome from deterioration; normal length is a few hundred base pairs MGI:hdene https://orcid.org/0000-0003-3691-0324 altered ability of blood leukocytes to move within or between different tissues and organs of the body by binding to high endothelial venules (HEV), then tethering and rolling along the luminal aspects of HEV abnormal leucocyte migration abnormal leucocyte trafficking abnormal leukocyte trafficking abnormal leucocyte homing abnormal leukocyte homing abnormal lymphocyte migration/homing MPheno.ontology MP:0003156 abnormal leukocyte migration MP:0003156 altered ability of blood leukocytes to move within or between different tissues and organs of the body by binding to high endothelial venules (HEV), then tethering and rolling along the luminal aspects of HEV GO:0050900 MGI:acv reduced or absent ability of muscle to lengthen following contractions MPheno.ontology myotonia MP:0003157 impaired muscle relaxation MP:0003157 reduced or absent ability of muscle to lengthen following contractions J:92510 https://orcid.org/0000-0003-4606-0597 difficulty in swallowing food or liquid impaired swallowing MPheno.ontology MP:0003158 dysphagia MP:0003158 difficulty in swallowing food or liquid ISBN:0-683-40008-8 any structural anomaly of the nonstriated, involuntary muscle tissue lining the esophagus abnormal oesophageal smooth muscle morphology MPheno.ontology MP:0003159 abnormal esophageal smooth muscle morphology MP:0003159 any structural anomaly of the nonstriated, involuntary muscle tissue lining the esophagus https://orcid.org/0000-0003-4606-0597 aberrant formation of the part of the digestive canal through which food passes from the pharynx to the stomach abnormal esophageal development abnormal oesophageal development abnormal oesophagus development MPheno.ontology MP:0003160 abnormal esophagus development MP:0003160 aberrant formation of the part of the digestive canal through which food passes from the pharynx to the stomach https://orcid.org/0000-0003-4606-0597 absence of the lateral long bony tube of the labyrinth that is involved in the sense of balance MPheno.ontology MP:0003161 absent lateral semicircular canal MP:0003161 absence of the lateral long bony tube of the labyrinth that is involved in the sense of balance https://orcid.org/0000-0002-6490-7723 small size of the lateral long bony tube of the labyrinth that is involved in the sense of balance decreased size of lateral semicircular canal reduced size of lateral semicircular canal MPheno.ontology MP:0003162 decreased lateral semicircular canal size MP:0003162 small size of the lateral long bony tube of the labyrinth that is involved in the sense of balance https://orcid.org/0000-0002-6490-7723 absence of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance MP:0003676 aplasia of posterior semicircular canal MPheno.ontology MP:0003163 absent posterior semicircular canal MP:0003163 absence of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance https://orcid.org/0000-0002-6490-7723 small size of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance reduced posterior semicircular canal size reduced size of posterior semicircular canal MPheno.ontology decreased size of posterior semicircular canal MP:0003164 decreased posterior semicircular canal size MP:0003164 small size of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 absence of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance absent anterior semicircular canal MPheno.ontology MP:0003165 absent superior semicircular canal MP:0003165 absence of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance ISBN:0-683-40008-8 small size of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance reduced size of anterior semicircular canal reduced size of superior semicircular canal MPheno.ontology decreased size of superior semicircular canal MP:0003166 decreased superior semicircular canal size MP:0003166 small size of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance ISBN:0-683-40008-8 any structural anomaly of the division of the spiral canal of the cochlea lying on the basal side of the spiral lamina MPheno.ontology MP:0003167 abnormal scala tympani morphology MP:0003167 any structural anomaly of the division of the spiral canal of the cochlea lying on the basal side of the spiral lamina https://orcid.org/0000-0002-6490-7723 any structural anomaly of the division of the spiral canal of the cochlea lying on the apical side of the spiral lamina and vestibular membrane abnormal perilymphatic space abnormal vestibular canal abnormal vestibular chamber MPheno.ontology MP:0003168 abnormal scala vestibuli morphology MP:0003168 any structural anomaly of the division of the spiral canal of the cochlea lying on the apical side of the spiral lamina and vestibular membrane https://orcid.org/0000-0002-6490-7723 any structural anomaly of the division of the spiral canal of the cochlea that contains the organ of Corti (the neuroepithelial receptor organ for hearing) abnormal Lowenberg scala abnormal cochlear chamber abnormal cochlear duct morphology MPheno.ontology MP:0003169 abnormal scala media morphology MP:0003169 any structural anomaly of the division of the spiral canal of the cochlea that contains the organ of Corti (the neuroepithelial receptor organ for hearing) PMID:1680563 https://orcid.org/0000-0002-6490-7723 true MP:0003170 wild-type phenotype restored from a previously characterized mutant phenotype phenotypic instability revertant MPheno.ontology MP:0003171 phenotypic reversion MP:0003171 wild-type phenotype restored from a previously characterized mutant phenotype MGI:llw2 ability of lysosomes to produce enzymes necessary for digestion of exogenous material is impaired MPheno.ontology MP:0003172 abnormal lysosome physiology MP:0003172 ability of lysosomes to produce enzymes necessary for digestion of exogenous material is impaired MGI:llw2 production or release of glycoprotein hydrolytic enzymes is decreased compared to normal reduced lysosomal enzyme secretion MPheno.ontology MP:0003173 decreased lysosomal enzyme secretion MP:0003173 production or release of glycoprotein hydrolytic enzymes is decreased compared to normal MGI:llw2 production or secretion of glycoprotein hydrolytic enzymes is increased compared to normal MPheno.ontology MP:0003174 increased lysosomal enzyme secretion MP:0003174 production or secretion of glycoprotein hydrolytic enzymes is increased compared to normal MGI:llw2 cross-over event between sequences containing mutant and wild-type alleles during DNA replication in a heterozygote resulting in cells with two wild-type alleles MPheno.ontology MP:0003175 reversion by mitotic recombination MP:0003175 cross-over event between sequences containing mutant and wild-type alleles during DNA replication in a heterozygote resulting in cells with two wild-type alleles MGI:llw2 restoration of wild-type phenotype by removal of a viral sequence or a viral- related sequence that produced a mutant phenotype MPheno.ontology MP:0003176 reversion by viral sequence excision MP:0003176 restoration of wild-type phenotype by removal of a viral sequence or a viral- related sequence that produced a mutant phenotype MGI:llw2 condition in which nonpainful stimuli evoke a pain sensation MPheno.ontology MP:0003177 allodynia MP:0003177 condition in which nonpainful stimuli evoke a pain sensation ISBN:0-683-40008-8 anomaly in the asymmetry of the lung such that the lobes on both the left and right side have the morphology normally seen on the left side of the body MPheno.ontology MP:0003178 left pulmonary isomerism MP:0003178 anomaly in the asymmetry of the lung such that the lobes on both the left and right side have the morphology normally seen on the left side of the body https://orcid.org/0000-0003-4606-0597 fewer than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation MP:0002749 decreased platelet cell number decreased thrombocyte number reduced platelet count thrombopenia MPheno.ontology decreased platelet count MP:0003179 thrombocytopenia MP:0003179 fewer than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation MGI:hdene https://orcid.org/0000-0003-3691-0324 altered morphology or area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell MPheno.ontology MP:0003180 abnormal pulmonary endothelial cell surface MP:0003180 altered morphology or area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell RGD:cur increased total area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell MPheno.ontology MP:0003181 increased pulmonary endothelial cell surface MP:0003181 increased total area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell RGD:cur reduced total area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell reduced pulmonary endothelial cell surface MPheno.ontology MP:0003182 decreased pulmonary endothelial cell surface MP:0003182 reduced total area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell RGD:cur anomaly in the biochemical modification and homeostasis of molecules consisting of linked amino acids and their derivatives MP:0013246 MPheno.ontology MP:0003183 Removing duplicate term. obsolete abnormal peptide metabolism true MP:0003183 anomaly in the biochemical modification and homeostasis of molecules consisting of linked amino acids and their derivatives RGD:cur greater activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin increased ACE activity MPheno.ontology MP:0003184 increased angiotensin I-converting enzyme activity MP:0003184 greater activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin RGD:cur reduced activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin decreased ACE activity reduced angiotensin I-converting enzyme activity MPheno.ontology MP:0003185 decreased angiotensin I-converting enzyme activity MP:0003185 reduced activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin RGD:cur any anomaly in the processes that maintain the redox environment of a cell or compartment within a cell MPheno.ontology MP:0003186 abnormal redox activity MP:0003186 any anomaly in the processes that maintain the redox environment of a cell or compartment within a cell https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0003187 obsolete increased reduction true MP:0003187 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0003188 obsolete decreased reduction true MP:0003188 OBSOLETE. https://orcid.org/0000-0003-3691-0324 partial or complete absence of a functional articulation point of two or more bones fusion of joints joint fusion MPheno.ontology MP:0003189 fused joints MP:0003189 partial or complete absence of a functional articulation point of two or more bones https://orcid.org/0000-0003-3691-0324 partial or complete absence of separations containing synovial fluid between bones fusion of synovial joints synovial joint fusion MPheno.ontology MP:0003190 fused synovial joints MP:0003190 partial or complete absence of separations containing synovial fluid between bones https://orcid.org/0000-0003-4606-0597 impaired regulation of cellular cholesterol levels MPheno.ontology MP:0003191 abnormal cellular cholesterol metabolism MP:0003191 impaired regulation of cellular cholesterol levels https://orcid.org/0000-0003-3691-0324 greater level of removal of excess cholesterol from cells by an active transport pathway MPheno.ontology MP:0003192 increased cholesterol efflux MP:0003192 greater level of removal of excess cholesterol from cells by an active transport pathway RGD:cur https://orcid.org/0000-0003-3691-0324 reduced level of removal of excess cholesterol from cells by an active transport pathway reduced cholesterol efflux MPheno.ontology MP:0003193 decreased cholesterol efflux MP:0003193 reduced level of removal of excess cholesterol from cells by an active transport pathway RGD:cur https://orcid.org/0000-0003-3691-0324 abnormal incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity abnormal frequency of REM sleep abnormal frequency of rapid eye movement sleep MPheno.ontology MP:0003194 abnormal frequency of paradoxical sleep MP:0003194 abnormal incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity RGD:cur https://orcid.org/0000-0003-3691-0324 pathologic deposition of calcium salts in tissues MPheno.ontology MP:0003195 calcinosis MP:0003195 pathologic deposition of calcium salts in tissues MESH:C18.452.174.130 RGD:cur pathologic deposition of calcium salts in the skin skin calcification MPheno.ontology MP:0003196 calcified skin MP:0003196 pathologic deposition of calcium salts in the skin RGD:cur diffusely scattered foci of calcification in the renal parenchyma, with microscopic or macroscopic deposits of calcium salts kidney calcification renal calcification calcified kidney MPheno.ontology MP:0003197 nephrocalcinosis MP:0003197 diffusely scattered foci of calcification in the renal parenchyma, with microscopic or macroscopic deposits of calcium salts MESH:C12.777.419.590 RGD:cur pathologic deposition of calcium salts in the tendons tendon calcification MPheno.ontology MP:0003198 calcified tendon MP:0003198 pathologic deposition of calcium salts in the tendons RGD:cur pathologic deposition of calcium salts in muscle muscle calcification MPheno.ontology MP:0003199 calcified muscle MP:0003199 pathologic deposition of calcium salts in muscle RGD:cur pathologic deposition of calcium salts in the joints joint calcification MPheno.ontology MP:0003200 calcified joint MP:0003200 pathologic deposition of calcium salts in the joints RGD:cur an accumulation of serous fluid in the limbs, paws and tail extremity oedema MPheno.ontology MP:0003201 extremity edema MP:0003201 an accumulation of serous fluid in the limbs, paws and tail RGD:cur change in the timing or the number of neurons undergoing programmed cell death abnormal neuronal apoptosis MPheno.ontology abnormal neuronal cell death MP:0003202 abnormal neuron apoptosis MP:0003202 change in the timing or the number of neurons undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 increase in the number of neurons undergoing programmed cell death increased neuronal apoptosis increased neuronal cell death MPheno.ontology MP:0003203 increased neuron apoptosis MP:0003203 increase in the number of neurons undergoing programmed cell death RGD:cur decrease in the number of neurons undergoing programmed cell death decreased neuronal apoptosis reduced neuronal apoptosis MPheno.ontology decreased neuronal cell death reduced neuronal cell death MP:0003204 decreased neuron apoptosis MP:0003204 decrease in the number of neurons undergoing programmed cell death RGD:cur acquired diminution of the size of the testis associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes testis atrophy MPheno.ontology MP:0003205 testicular atrophy MP:0003205 acquired diminution of the size of the testis associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes RGD:cur https://orcid.org/0000-0003-3691-0324 true MP:0003206 decreased incidence of cell death following exposure to gamma-irradiation decreased cellular susceptibility to gamma-irradiation increased cellular resistance to gamma-irradiation reduced cellular sensitivity to gamma-irradiation MPheno.ontology MP:0003207 decreased cellular sensitivity to gamma-irradiation MP:0003207 decreased incidence of cell death following exposure to gamma-irradiation https://orcid.org/0000-0003-4606-0597 any structural anomaly of the segments of the developing neural tube MPheno.ontology MP:0003208 abnormal neuromere morphology MP:0003208 any structural anomaly of the segments of the developing neural tube https://orcid.org/0000-0003-4606-0597 any structural anomaly of a slender connective tissue fiber in pulmonary tissue characterized by great elasticity abnormal pulmonary elastic fibre morphology MPheno.ontology MP:0003209 abnormal pulmonary elastic fiber morphology MP:0003209 any structural anomaly of a slender connective tissue fiber in pulmonary tissue characterized by great elasticity ISBN:0-683-40008-8 RGD:cur abnormal pulmonary elastic fibre morphology https://orcid.org/0000-0002-6490-7723 any structural anomaly of the slender connective tissue fiber in cardiac tissue characterized by great elasticity abnormal cardiac elastic fiber morphology abnormal cardiac elastic fibre morphology abnormal heart elastic fibre morphology MPheno.ontology MP:0003210 abnormal heart elastic fiber morphology MP:0003210 any structural anomaly of the slender connective tissue fiber in cardiac tissue characterized by great elasticity ISBN:0-683-40008-8 RGD:cur any structural anomaly of the slender connective tissue fiber in aortic tissue characterized by great elasticity abnormal aorta elastic fibre morphology MPheno.ontology MP:0003211 abnormal aorta elastic fiber morphology MP:0003211 any structural anomaly of the slender connective tissue fiber in aortic tissue characterized by great elasticity ISBN:0-683-40008-8 RGD:cur abnormal aorta elastic fibre morphology https://orcid.org/0000-0002-6490-7723 increased probability of excessive weight gain that is progressive with age decreased resistance to age related obesity MPheno.ontology MP:0003212 increased susceptibility to age related obesity MP:0003212 increased probability of excessive weight gain that is progressive with age RGD:cur reduced probability of excessive weight gain that is progressive with age increased resistance to age related obesity MPheno.ontology MP:0003213 decreased susceptibility to age related obesity MP:0003213 reduced probability of excessive weight gain that is progressive with age RGD:cur dense intraneuronal accumulations of helical filaments (neurofilaments and microtubules) that assume twisted contorted patterns; found in subclasses of cells of the neocortex, hippocampus, brain stem, and diencephalon in individuals with Alzheimer disease and other tauopathies tau protein tangles MPheno.ontology neuritic plaques senile plaques MP:0003214 neurofibrillary tangles MP:0003214 dense intraneuronal accumulations of helical filaments (neurofilaments and microtubules) that assume twisted contorted patterns; found in subclasses of cells of the neocortex, hippocampus, brain stem, and diencephalon in individuals with Alzheimer disease and other tauopathies GO:0097418 ISBN:0-683-40008-8 RGD:cur https://www.ncbi.nlm.nih.gov/mesh/68016874 formation of fibrous tissue within the functional space in the kidney beneath the individual filters (glomeruli) as a result of repair or a reactive process MPheno.ontology MP:0003215 renal interstitial fibrosis MP:0003215 formation of fibrous tissue within the functional space in the kidney beneath the individual filters (glomeruli) as a result of repair or a reactive process RGD:cur impairment of consciousness without convulsions associated with sudden behavioral arrest and widespread bilaterally synchronous spike-and-wave discharges (SWDs) in the electroencephalogram (EEG) absence epilepsy spike wave seizures spike-wave seizures MPheno.ontology MP:0003216 absence seizures MP:0003216 impairment of consciousness without convulsions associated with sudden behavioral arrest and widespread bilaterally synchronous spike-and-wave discharges (SWDs) in the electroencephalogram (EEG) PMID:16725200 RGD:cur increase in one type of epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy, characterized by immediate, bilaterally symmetric discharges, generalized over the cortex and lasting longer than spike-wave discharge type II MPheno.ontology MP:0003217 increased spike-wave discharge type I MP:0003217 increase in one type of epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy, characterized by immediate, bilaterally symmetric discharges, generalized over the cortex and lasting longer than spike-wave discharge type II RGD:cur decrease in one type of epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy, characterized by immediate, bilaterally symmetric discharges, generalized over the cortex and lasting longer than Spike-wave discharge type II reduced spike-wave discharge type I MPheno.ontology MP:0003218 decreased spike-wave discharge type I MP:0003218 decrease in one type of epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy, characterized by immediate, bilaterally symmetric discharges, generalized over the cortex and lasting longer than Spike-wave discharge type II RGD:cur increase in one type of epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy, characterized by local occipital-parietal discharges that are shorter and have less clear waves than spike-wave discharge type I MPheno.ontology MP:0003219 increased spike-wave discharge type II MP:0003219 increase in one type of epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy, characterized by local occipital-parietal discharges that are shorter and have less clear waves than spike-wave discharge type I RGD:cur decrease in one type of epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy, characterized by local occipital-parietal discharges that are shorter and have less clear waves than spike-wave discharge type I reduced spike-wave discharge type II MPheno.ontology MP:0003220 decreased spike-wave discharge type II MP:0003220 decrease in one type of epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy, characterized by local occipital-parietal discharges that are shorter and have less clear waves than spike-wave discharge type I RGD:cur change in the timing or the number of cardiac muscle cells undergoing programmed cell death abnormal cardiac muscle cell apoptosis MPheno.ontology MP:0003221 Note that this is a generic term that applies to cardiomyocytes irrespective of the life stage of the organism, that is, regardless of whether cardiac muscle cells are still in the process of differentiation or terminally differentiated. abnormal cardiomyocyte apoptosis MP:0003221 change in the timing or the number of cardiac muscle cells undergoing programmed cell death RGD:cur increase in the number of cardiac muscle cells undergoing programmed cell death elevated cardiac muscle cell apoptosis elevated cardiomyocyte apoptosis increased cardiac muscle cell apoptosis MPheno.ontology MP:0003222 increased cardiomyocyte apoptosis MP:0003222 increase in the number of cardiac muscle cells undergoing programmed cell death RGD:cur decrease in the number of cardiac muscle cells undergoing programmed cell death decreased cardiac muscle cell apoptosis reduced cardiac muscle cell apoptosis reduced cardiomyocyte apoptosis MPheno.ontology MP:0003223 decreased cardiomyocyte apoptosis MP:0003223 decrease in the number of cardiac muscle cells undergoing programmed cell death RGD:cur a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses MPheno.ontology MP:0003224 neuron degeneration MP:0003224 a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses ISBN:0-683-40008-8 axon degeneration that may result from genetic abnormalities or inadequate or faulty metabolism MPheno.ontology MP:0003225 axonal dystrophy MP:0003225 axon degeneration that may result from genetic abnormalities or inadequate or faulty metabolism RGD:cur absence of the central cone shaped core of spongy bone about which turns the spiral canal MPheno.ontology MP:0003226 absent cochlear modiolus MP:0003226 absence of the central cone shaped core of spongy bone about which turns the spiral canal ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 increase, decrease or anomaly in the process by which new vessels sprout off pre-existing vessels MPheno.ontology MP:0003227 abnormal vascular branching morphogenesis MP:0003227 increase, decrease or anomaly in the process by which new vessels sprout off pre-existing vessels https://orcid.org/0000-0003-4606-0597 any structural anomaly of the cavity at the caudal end of the embryonic cardiac tube in which the veins from the intra- and extraembryonic circulatory arcs unite; in the adult this becomes the portion of the right atrium known as the sinus of the vena cava abnormal sinus venosus MPheno.ontology MP:0003228 abnormal sinus venosus morphology MP:0003228 any structural anomaly of the cavity at the caudal end of the embryonic cardiac tube in which the veins from the intra- and extraembryonic circulatory arcs unite; in the adult this becomes the portion of the right atrium known as the sinus of the vena cava https://orcid.org/0000-0003-4606-0597 any structural anomaly of the vascular network that supplies the yolk sac abnormal omphalomesenteric vasculature abnormal yolk sac vasculature MPheno.ontology MP:0003229 abnormal vitelline vasculature morphology MP:0003229 any structural anomaly of the vascular network that supplies the yolk sac https://orcid.org/0000-0003-3691-0324 any structural anomaly of the paired arteries that bring unoxygenated blood back to the placenta from the dorsal aorta through the umbilical cord MPheno.ontology MP:0003230 abnormal umbilical artery morphology MP:0003230 any structural anomaly of the paired arteries that bring unoxygenated blood back to the placenta from the dorsal aorta through the umbilical cord ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the vessels of the placenta abnormal placental vasculature MPheno.ontology MP:0003231 abnormal placenta vasculature MP:0003231 any structural anomaly of the vessels of the placenta https://orcid.org/0000-0003-4606-0597 anomaly in the formation or patterning of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) abnormal prosencephalon development MPheno.ontology MP:0003232 abnormal forebrain development MP:0003232 anomaly in the formation or patterning of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) GO:0048853 increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave increased QT interval widened QT interval MPheno.ontology long QT syndrome MP:0003233 A prolonged QT interval is a risk factor for ventricular tachyarrhythmias and sudden death. It varies with heart rate and for clinical relevance requires a correction for this, giving the QTc. prolonged QT interval MP:0003233 increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave PMID:12114851 https://orcid.org/0000-0003-4606-0597 increase in the measured amplitude, current density or duration of response to stimulation of NMDA receptors MPheno.ontology MP:0003234 enhanced NMDA-mediated synaptic currents MP:0003234 increase in the measured amplitude, current density or duration of response to stimulation of NMDA receptors https://orcid.org/0000-0003-3691-0324 any structural anomaly of either of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young abnormal great wing of the sphenoid bone abnormal greater wing of the sphenoid bone MPheno.ontology MP:0003235 abnormal alisphenoid bone morphology MP:0003235 any structural anomaly of either of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young ISBN:0-683-40008-8 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the elastic, clear, membrane-like structure, that is outer most layer of the lens MPheno.ontology MP:0003236 abnormal lens capsule morphology MP:0003236 any structural anomaly of the elastic, clear, membrane-like structure, that is outer most layer of the lens PMID:15483628 https://orcid.org/0000-0003-4606-0597 any structural anomaly in the one or more of the layers of epithelial cells in the lens MPheno.ontology MP:0003237 abnormal lens epithelium morphology MP:0003237 any structural anomaly in the one or more of the layers of epithelial cells in the lens https://orcid.org/0000-0003-4606-0597 decreased rapid, periodic, jerky movement of the eyes from average during certain stages of the sleep cycle when dreaming takes place slow rapid eye movement MPheno.ontology MP:0003238 slow REM MP:0003238 decreased rapid, periodic, jerky movement of the eyes from average during certain stages of the sleep cycle when dreaming takes place RGD:cur increased rapid, periodic, jerky movement of the eyes from average during certain stages of the sleep cycle when dreaming takes place fast rapid eye movement MPheno.ontology MP:0003239 fast REM MP:0003239 increased rapid, periodic, jerky movement of the eyes from average during certain stages of the sleep cycle when dreaming takes place RGD:cur loss of neurons in the hippocampal region of the brain, commonly due to an apoptotic event MPheno.ontology MP:0003240 loss of hippocampal neurons MP:0003240 loss of neurons in the hippocampal region of the brain, commonly due to an apoptotic event RGD:cur loss of neurons in the cortex region of the brain, commonly due to an apoptotic event MPheno.ontology MP:0003241 loss of cortex neurons MP:0003241 loss of neurons in the cortex region of the brain, commonly due to an apoptotic event RGD:cur loss of neurons in the basal ganglia of the brain, commonly due to an apoptotic event MPheno.ontology MP:0003242 loss of basal ganglia neurons MP:0003242 loss of neurons in the basal ganglia of the brain, commonly due to an apoptotic event RGD:cur any structural anomaly of the neurons that utilize dopamine as a neurotransmitter MPheno.ontology MP:0003243 abnormal dopaminergic neuron morphology MP:0003243 any structural anomaly of the neurons that utilize dopamine as a neurotransmitter ISBN:0838580343 loss of the neurons that utilize dopamine as a neurotransmitter, commonly due to an apoptotic event MPheno.ontology MP:0003244 loss of dopaminergic neurons MP:0003244 loss of the neurons that utilize dopamine as a neurotransmitter, commonly due to an apoptotic event RGD:cur any structural anomaly of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter abnormal GABA neurons MPheno.ontology abnormal GABA neuron morphology MP:0003245 abnormal GABAergic neuron morphology MP:0003245 any structural anomaly of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter ISBN:0838580343 loss of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter, commonly due to an apoptotic event loss of GABA neurons MPheno.ontology MP:0003246 loss of GABAergic neurons MP:0003246 loss of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter, commonly due to an apoptotic event RGD:cur any structural anomaly of the neurons that utilize glutamate as a neurotransmitter abnormal glutamatergic neuron morphology MPheno.ontology MP:0003247 abnormal glutaminergic neuron morphology MP:0003247 any structural anomaly of the neurons that utilize glutamate as a neurotransmitter ISBN:0838580343 loss of the neurons that utilize glutamate as a neurotransmitter, commonly due to an apoptotic event MPheno.ontology MP:0003248 loss of glutamate neurons MP:0003248 loss of the neurons that utilize glutamate as a neurotransmitter, commonly due to an apoptotic event RGD:cur greater than normal muscle concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacylglycerols are taken into tissues elevated muscle free fatty acid (FFA) increased muscle free fatty acid level MPheno.ontology MP:0003249 increased muscle free fatty acids level MP:0003249 greater than normal muscle concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacylglycerols are taken into tissues ISBN:0-683-40008-8 RGD:cur absence of the organ which serves as a storage reservoir for bile absent cholecyst absent gall bladder MPheno.ontology MP:0003250 absent gallbladder MP:0003250 absence of the organ which serves as a storage reservoir for bile ISBN:0-683-40008-8 NCBI:matt local accumulation of fluid, plasma proteins, and leukocytes in the gall bladder gall bladder inflammation MPheno.ontology MP:0003251 gallbladder inflammation MP:0003251 local accumulation of fluid, plasma proteins, and leukocytes in the gall bladder ISBN:0-683-40008-8 NCBI:matt any functional anomaly of the channels that secrete bile from the liver to the gall bladder and intestines MPheno.ontology MP:0003252 abnormal bile duct physiology MP:0003252 any functional anomaly of the channels that secrete bile from the liver to the gall bladder and intestines ISBN:0-683-40008-8 NCBI:matt the luminal space of one or more bile ducts is increased in volume or area, usually with an increase in contained fluid or bile bile duct dilation dilated bile ducts MPheno.ontology MP:0003253 dilated bile duct MP:0003253 the luminal space of one or more bile ducts is increased in volume or area, usually with an increase in contained fluid or bile NCBI:matt https://orcid.org/0000-0003-3691-0324 local accumulation of fluid, plasma proteins, and leukocytes in the bile ducts cholangitis MPheno.ontology MP:0003254 bile duct inflammation MP:0003254 local accumulation of fluid, plasma proteins, and leukocytes in the bile ducts ISBN:0-683-40008-8 NCBI:matt the appearance of an increased number of bile ducts in the liver; a sign of progressive liver disease increased bile duct number MPheno.ontology MP:0003255 bile duct proliferation MP:0003255 the appearance of an increased number of bile ducts in the liver; a sign of progressive liver disease NCBI:matt liver damage to parenchymal cells due to obstruction of bile flow in the bile ducts MPheno.ontology MP:0003256 biliary cirrhosis MP:0003256 liver damage to parenchymal cells due to obstruction of bile flow in the bile ducts MESH:C06.130.120.135.250.250 NCBI:matt any structural anomaly of the margins that enclose the abdominal cavity; the major part is muscular but also includes skin, subcutaneous fat, fascia and the parietal peritoneum MPheno.ontology MP:0003257 abnormal abdominal wall morphology MP:0003257 any structural anomaly of the margins that enclose the abdominal cavity; the major part is muscular but also includes skin, subcutaneous fat, fascia and the parietal peritoneum MESH:A01.047.050 NCBI:matt protrusion of abdominal structures through the esophageal hiatus of the diaphragm MPheno.ontology MP:0003258 hiatal hernia MP:0003258 protrusion of abdominal structures through the esophageal hiatus of the diaphragm ISBN:0-683-40008-8 MESH:C23.300.707.500.467 NCBI:matt gastric discomfort associated with the inclination to vomit MPheno.ontology MP:0003259 nausea MP:0003259 gastric discomfort associated with the inclination to vomit ISBN:0-683-40008-8 NCBI:matt the retrograde expulsion of gastric contents through the oral cavity MPheno.ontology MP:0003260 vomiting MP:0003260 the retrograde expulsion of gastric contents through the oral cavity ISBN:0-683-40008-8 NCBI:matt vomiting of blood; indicative of bleeding in the upper gastrointestinal tract vomiting blood MPheno.ontology MP:0003261 hematemesis MP:0003261 vomiting of blood; indicative of bleeding in the upper gastrointestinal tract MESH:C06.405.227.400 NCBI:matt a pouch or sac protruding from the intestinal or bowel wall MPheno.ontology MP:0003262 intestinal/bowel diverticulum MP:0003262 a pouch or sac protruding from the intestinal or bowel wall NCBI:matt OBSOLETE. altered ability to form cholesterol from constituent compounds MPheno.ontology MP:0003263 obsolete abnormal cholesterol biosynthesis true MP:0003263 OBSOLETE. altered ability to form cholesterol from constituent compounds NCBI:matt OBSOLETE. augmented rate at which cholesterol is formed from constituent compounds MPheno.ontology MP:0003264 obsolete increased cholesterol biosynthesis true MP:0003264 OBSOLETE. augmented rate at which cholesterol is formed from constituent compounds NCBI:matt OBSOLETE. reduced rate at which cholesterol is formed from constituent compounds MPheno.ontology MP:0003265 obsolete decreased cholesterol biosynthesis true MP:0003265 OBSOLETE. reduced rate at which cholesterol is formed from constituent compounds NCBI:matt presence of one or more abnormal fluid-filled sacs within the bile ducts biliary cysts choledochal cyst choledochal cysts choledochocele choledochoceles common bile duct cyst common bile duct cysts cystic bile duct cystic bile ducts MPheno.ontology MP:0003266 biliary cyst MP:0003266 presence of one or more abnormal fluid-filled sacs within the bile ducts NCBI:matt incomplete, infrequent or difficult evacuation of fecal matter MPheno.ontology MP:0003267 constipation MP:0003267 incomplete, infrequent or difficult evacuation of fecal matter MESH:C23.888.821.150 NCBI:matt prolonged or long-term difficulty in evacuation of fecal matter MPheno.ontology MP:0003268 chronic constipation MP:0003268 prolonged or long-term difficulty in evacuation of fecal matter MESH:C23.888.821.150 NCBI:matt abnormal tissue masses that protrude into the lumen of the colon and are tethered to the wall of the colon colonic polyps MPheno.ontology MP:0003269 colon polyps MP:0003269 abnormal tissue masses that protrude into the lumen of the colon and are tethered to the wall of the colon MESH:C23.300.825.411.235 NCBI:matt any impediment, blockage, or reversal of the normal flow of the intestinal contents toward the anus MPheno.ontology MP:0003270 intestinal obstruction MP:0003270 any impediment, blockage, or reversal of the normal flow of the intestinal contents toward the anus MESH:C06.405.469.531 NCBI:matt any structural anomaly of the first division of the small intestine that extends from the pyloris to the junction with the jejunum MPheno.ontology MP:0003271 abnormal duodenum morphology MP:0003271 any structural anomaly of the first division of the small intestine that extends from the pyloris to the junction with the jejunum MESH:A03.556.124.684.124 congenital blockage or absence of the lumen of the duodenum Fyler:4406 MPheno.ontology MP:0003272 duodenal atresia MP:0003272 congenital blockage or absence of the lumen of the duodenum MESH:C06.198.719 NCBI:matt a lesion on the mucosal surface of the duodenum, usually produced by the sloughing of inflammatory necrotic tissue Curling ulcer MPheno.ontology MP:0003273 duodenal ulcer MP:0003273 a lesion on the mucosal surface of the duodenum, usually produced by the sloughing of inflammatory necrotic tissue MESH:C23.550.891 NCBI:matt focal dilation of arteriocapillary junctions in the intestine MPheno.ontology MP:0003274 intestinal microaneurysm MP:0003274 focal dilation of arteriocapillary junctions in the intestine ISBN:0-683-40008-8 NCBI:matt focal dilation of arteriocapillary junctions in the stomach MPheno.ontology MP:0003275 gastric microaneurysm MP:0003275 focal dilation of arteriocapillary junctions in the stomach ISBN:0-683-40008-8 NCBI:matt congenital blockage or absence of the lumen of the esophagus Fyler:4412 oesophageal atresia MPheno.ontology MP:0003276 esophageal atresia MP:0003276 congenital blockage or absence of the lumen of the esophagus MESH:C06.198.330 NCBI:matt higher than normal incidence of a benign epithelial tumor consisting of villous or arborescent outgrowths of fibrovascular stroma of the esophagus increased oesophageal papilloma incidence MPheno.ontology esophageal papilloma oesophageal papilloma MP:0003277 increased esophageal papilloma incidence MP:0003277 higher than normal incidence of a benign epithelial tumor consisting of villous or arborescent outgrowths of fibrovascular stroma of the esophagus MPATH:445 local accumulation of fluid, plasma proteins and leukocytes in the esophagus esophagitis inflammation of esophagus inflammation of oesophagus oesophageal inflammation oesophagitis MPheno.ontology MP:0003278 esophageal inflammation MP:0003278 local accumulation of fluid, plasma proteins and leukocytes in the esophagus NCBI:matt a protruding sac formed by the dilation of the wall of an artery, a vein, or the heart resulting from a weakening of the vessel wall or heart muscle Fyler:2399 MPheno.ontology MP:0003279 aneurysm MP:0003279 a protruding sac formed by the dilation of the wall of an artery, a vein, or the heart resulting from a weakening of the vessel wall or heart muscle ISBN:0-683-40008-8 MESH:C14.907.055 NCBI:matt inability to control the urinary bladder excretory functions leading to involuntary urination MPheno.ontology MP:0003280 urinary incontinence MP:0003280 inability to control the urinary bladder excretory functions leading to involuntary urination NCBI:matt inability to control the anal sphincter resulting in the involuntary passage of feces faecal incontinence MPheno.ontology MP:0003281 fecal incontinence MP:0003281 inability to control the anal sphincter resulting in the involuntary passage of feces MESH:C06.405.469.860.300 NCBI:matt a lesion on the mucosal surface of the stomach, usually produced by the sloughing of inflammatory necrotic tissue MPheno.ontology MP:0003282 gastric ulcer MP:0003282 a lesion on the mucosal surface of the stomach, usually produced by the sloughing of inflammatory necrotic tissue MESH:C06.405.608.849 NCBI:matt different location or arrangement of any of the alimentary tract organs MPheno.ontology MP:0003283 abnormal digestive organ placement MP:0003283 different location or arrangement of any of the alimentary tract organs NCBI:matt different location or arrangement of the large intestinal tract MPheno.ontology MP:0003284 abnormal large intestine placement MP:0003284 different location or arrangement of the large intestinal tract NCBI:matt increase in the bulk size of the stomach due to cell enlargement or accumulation of fluids MPheno.ontology MP:0003285 gastric hypertrophy MP:0003285 increase in the bulk size of the stomach due to cell enlargement or accumulation of fluids NCBI:matt retrograde movement of gastric contents into the esophagus MPheno.ontology MP:0003286 gastroesophageal reflux MP:0003286 retrograde movement of gastric contents into the esophagus MESH:C06.405.117.119.500.484 NCBI:matt greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells in the intestines, occurring in a specific population in a given time period increased intestinal haemangioma incidence MPheno.ontology intestinal angioma intestinal haemangioma intestinal hemangioma MP:0003287 increased intestinal hemangioma incidence MP:0003287 greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells in the intestines, occurring in a specific population in a given time period NCBI:matt https://orcid.org/0000-0003-3691-0324 an accumulation of an excessive amount of serous fluid in the intestine or intestinal cells intestinal oedema MPheno.ontology MP:0003288 intestinal edema MP:0003288 an accumulation of an excessive amount of serous fluid in the intestine or intestinal cells NCBI:matt altered intestinal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls of the bowel that move bowel contents forward MPheno.ontology MP:0003289 abnormal intestinal peristalsis MP:0003289 altered intestinal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls of the bowel that move bowel contents forward ISBN:0-683-40008-8 NCBI:matt reduced intestinal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls of the bowel that move bowel contents forward hypoperistalsis hypanakinesia MPheno.ontology MP:0003290 intestinal hypoperistalsis MP:0003290 reduced intestinal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls of the bowel that move bowel contents forward ISBN:0-683-40008-8 NCBI:matt increased intestinal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls of the bowel that move bowel contents forward hyperperistalsis hyperanakinesia MPheno.ontology MP:0003291 interstinal hyperperistalsis MP:0003291 increased intestinal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls of the bowel that move bowel contents forward ISBN:0-683-40008-8 NCBI:matt dark colored, foul-smelling feces due to the presence of blood blood in faeces blood in feces bloody stool melanorhhagia melanorrhea MPheno.ontology MP:0003292 melena MP:0003292 dark colored, foul-smelling feces due to the presence of blood ISBN:0-683-40008-8 NCBI:matt bleeding in the rectum rectal bleeding rectal haemorrhage MPheno.ontology MP:0003293 rectal hemorrhage MP:0003293 bleeding in the rectum NCBI:matt telescoping of the intestine, or the prolapse of one part of the bowel to another; usually results in obstruction MPheno.ontology MP:0003294 intussusception MP:0003294 telescoping of the intestine, or the prolapse of one part of the bowel to another; usually results in obstruction MESH:C06.405.469.531.577 NCBI:matt cystic mass in the abdominal mesenchyme containing lymph; sometimes becomes calcified lymphomesenteric cysts MPheno.ontology MP:0003295 lymphomesenteric cyst MP:0003295 cystic mass in the abdominal mesenchyme containing lymph; sometimes becomes calcified NCBI:matt small, unused colon in neonates, usually due to atresia or other gastrointestinal blockage MPheno.ontology MP:0003296 microcolon MP:0003296 small, unused colon in neonates, usually due to atresia or other gastrointestinal blockage ISBN:0-683-40008-8 NCBI:matt true MP:0003297 spasm of the larynx and trachea due to prevention of respiration by compression or obstruction MPheno.ontology MP:0003298 choking MP:0003298 spasm of the larynx and trachea due to prevention of respiration by compression or obstruction ISBN:0-683-40008-8 NCBI:matt abnormal tissue masses that protrude into the lumen of the stomach and are tethered to the wall of the stomach gastric polyposis MPheno.ontology MP:0003299 gastric polyps MP:0003299 abnormal tissue masses that protrude into the lumen of the stomach and are tethered to the wall of the stomach MESH:C23.300.825 NCBI:matt any lesion on the mucosal surface of the gastrointestinal tract, usually produced by the sloughing of inflammatory necrotic tissue MPheno.ontology MP:0003300 gastrointestinal ulcer MP:0003300 any lesion on the mucosal surface of the gastrointestinal tract, usually produced by the sloughing of inflammatory necrotic tissue NCBI:matt any lesion on the mucosal surface of the portion of the alimentary tract that is exposed to gastric acid, usually in the stomach or the duodenum gastroduodenal ulcer marginal ulcer MPheno.ontology MP:0003301 peptic ulcer MP:0003301 any lesion on the mucosal surface of the portion of the alimentary tract that is exposed to gastric acid, usually in the stomach or the duodenum ISBN:0-683-40008-8 MESH:C06.405.469.275.800 NCBI:matt acute focal inflammation of the tissues surrounding the rectum, often with accumulation of purulent material MPheno.ontology MP:0003302 perirectal abscess MP:0003302 acute focal inflammation of the tissues surrounding the rectum, often with accumulation of purulent material NCBI:matt local accumulation of fluid, plasma proteins, and leukocytes in the membrane that lines the abdominal cavity and covers most of the viscera peritoneum inflammation MPheno.ontology peritonitis MP:0003303 peritoneal inflammation MP:0003303 local accumulation of fluid, plasma proteins, and leukocytes in the membrane that lines the abdominal cavity and covers most of the viscera ISBN:0-683-40008-8 NCBI:matt local accumulation of fluid, plasma proteins, and leukocytes in the large intestine MPheno.ontology MP:0003304 large intestinal inflammation MP:0003304 local accumulation of fluid, plasma proteins, and leukocytes in the large intestine NCBI:matt local accumulation of fluid, plasma proteins, and leukocytes in the mucous membrane of the rectum rectitis MPheno.ontology MP:0003305 proctitis MP:0003305 local accumulation of fluid, plasma proteins, and leukocytes in the mucous membrane of the rectum MESH:C06.405.205.865 NCBI:matt local accumulation of fluid, plasma proteins, and leukocytes in the small intestine MPheno.ontology MP:0003306 small intestinal inflammation MP:0003306 local accumulation of fluid, plasma proteins, and leukocytes in the small intestine NCBI:matt abnormal narrowing or constriction of the gastric outlet of the stomach, often due to muscular hypertrophy or scarring from local inflammation Fyler:4444 MPheno.ontology MP:0003307 pyloric stenosis MP:0003307 abnormal narrowing or constriction of the gastric outlet of the stomach, often due to muscular hypertrophy or scarring from local inflammation ISBN:0-683-40008-8 NCBI:matt https://orcid.org/0000-0002-6490-7723 any structural anomaly of the epithelial cell layer containing the sensory hair cells and their associated sensory nerve terminals abnormal cochlear neuroepithelium abnormal inner ear neuroepithelium MPheno.ontology MP:0003308 abnormal cochlear sensory epithelium morphology MP:0003308 any structural anomaly of the epithelial cell layer containing the sensory hair cells and their associated sensory nerve terminals https://orcid.org/0000-0003-3691-0324 any structural anomaly of the central cone shaped core of spongy bone about which turns the spiral canal MPheno.ontology MP:0003309 abnormal cochlear modiolus morphology MP:0003309 any structural anomaly of the central cone shaped core of spongy bone about which turns the spiral canal ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 a reduction in the volume of the central conical bony pillar of the cochlea MPheno.ontology MP:0003310 reduced cochlear modiolus MP:0003310 a reduction in the volume of the central conical bony pillar of the cochlea J:66787 https://orcid.org/0000-0002-6490-7723 excretion of amino acids in the urine, especially in excessive amounts hyperaminoaciduria MPheno.ontology MP:0003311 aminoaciduria MP:0003311 excretion of amino acids in the urine, especially in excessive amounts https://orcid.org/0000-0002-6490-7723 reduced ability of an animal to maintain skillful and effective interaction of movements while engaging in behavioral locomotor activity MPheno.ontology MP:0003312 abnormal locomotor coordination MP:0003312 reduced ability of an animal to maintain skillful and effective interaction of movements while engaging in behavioral locomotor activity https://orcid.org/0000-0003-3691-0324 altered ability or desire of an animal to initiate locomotor activity MPheno.ontology MP:0003313 abnormal locomotor activation MP:0003313 altered ability or desire of an animal to initiate locomotor activity https://orcid.org/0000-0003-3691-0324 an inability to control the range of motion, typified by under- or over-shooting the intended position with the hand, arm, leg or eye MPheno.ontology MP:0003314 dysmetria MP:0003314 an inability to control the range of motion, typified by under- or over-shooting the intended position with the hand, arm, leg or eye https://orcid.org/0000-0003-4606-0597 any structural anomaly of the area between the genital organs and the anus that lies beneath the pelvic diaphragm MPheno.ontology perineum dysplasia MP:0003315 abnormal perineum morphology MP:0003315 any structural anomaly of the area between the genital organs and the anus that lies beneath the pelvic diaphragm ISBN:0-683-40008-8 NCBI:matt an abnormal anatomical passage that connects the perineum to organs such as the bladder or the rectum MPheno.ontology MP:0003316 perineal fistula MP:0003316 an abnormal anatomical passage that connects the perineum to organs such as the bladder or the rectum MESH:C23.300.575 NCBI:matt an abnormal anatomical passage that connects the perineum to the anal canal ano-perineal fistula MPheno.ontology MP:0003317 anoperineal fistula MP:0003317 an abnormal anatomical passage that connects the perineum to the anal canal NCBI:matt an abnormal anatomical passage that connects the perineum to the rectum recto-perineal fistula recto-peritoneal fistula rectoperitoneal fistula MPheno.ontology MP:0003318 rectoperineal fistula MP:0003318 an abnormal anatomical passage that connects the perineum to the rectum MESH:C23.300.575 NCBI:matt an abnormal anatomical passage at or near the anus that usually opens into the rectum above the internal sphincter MPheno.ontology MP:0003319 anal fistula MP:0003319 an abnormal anatomical passage at or near the anus that usually opens into the rectum above the internal sphincter ISBN:0-683-40008-8 NCBI:matt an abnormal anatomical passage connecting the rectum and the vagina recto-vaginal fistula MPheno.ontology MP:0003320 rectovaginal fistula MP:0003320 an abnormal anatomical passage connecting the rectum and the vagina MESH:C06.267.550.600.650 NCBI:matt an abnormal passage is present between the esophagus and the trachea; may be acquired or congenital, and is often associated with esophageal atresia MP:0003117 Fyler:4202 esophago-tracheal fistula esophagotracheal fistula impaired tracheal-esophageal septation impaired tracheal-oesophageal septation oesophago-tracheal fistula oesophagotracheal fistula tracheo-oesophageal fistula MPheno.ontology MP:0003321 tracheoesophageal fistula MP:0003321 an abnormal passage is present between the esophagus and the trachea; may be acquired or congenital, and is often associated with esophageal atresia MESH:C06.267.250.725 NCBI:matt an abnormal anatomical passage that connects any organ of the biliary tract and other organs MPheno.ontology MP:0003322 biliary fistula MP:0003322 an abnormal anatomical passage that connects any organ of the biliary tract and other organs MESH:C06.267.150 NCBI:matt an abnormal anatomical passage between the stomach and the colon MPheno.ontology MP:0003323 gastrocolic fistula MP:0003323 an abnormal anatomical passage between the stomach and the colon ISBN:0-683-40008-8 NCBI:matt greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the liver, occurring in a specific population in a given time period increased hepatocellular adenoma incidence MPheno.ontology MP:0003324 increased liver adenoma incidence MP:0003324 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the liver, occurring in a specific population in a given time period ISBN:0-683-40008-8 NCBI:matt https://orcid.org/0000-0003-3691-0324 reduced normal function of this bile-secreting exocrine gland, which is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage reduced hepatic function reduced liver function MPheno.ontology MP:0003325 decreased liver function MP:0003325 reduced normal function of this bile-secreting exocrine gland, which is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage NCBI:matt cessation of function of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage hepatic failure MPheno.ontology MP:0003326 liver failure MP:0003326 cessation of function of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage NCBI:matt presence of one or more abnormal membranous sacs in any portion of the liver hepatic cyst hepatic cysts liver cysts MPheno.ontology MP:0003327 liver cyst MP:0003327 presence of one or more abnormal membranous sacs in any portion of the liver NCBI:matt elevation of blood pressure in the hepatic portal vein, often a result of cirrhosis or from obstruction of the portal vein MPheno.ontology MP:0003328 portal hypertension MP:0003328 elevation of blood pressure in the hepatic portal vein, often a result of cirrhosis or from obstruction of the portal vein ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 formation of self-assembled aggregates of the cleaved App Abeta protein fragment; often seen in neurodegenerative disorders such as Alzheimer's disease amyloid beta plaques increased amyloid beta deposition MPheno.ontology MP:0003329 amyloid beta deposits MP:0003329 formation of self-assembled aggregates of the cleaved App Abeta protein fragment; often seen in neurodegenerative disorders such as Alzheimer's disease https://orcid.org/0000-0003-3691-0324 any structural anomaly in the tube connecting the tympanic cavity and the nasopharynx that allows equalization of pressure between the tympanic cavity and the environment abnormal Eustachian tube abnormal pharyngotympanic tube MPheno.ontology MP:0003330 abnormal auditory tube morphology MP:0003330 any structural anomaly in the tube connecting the tympanic cavity and the nasopharynx that allows equalization of pressure between the tympanic cavity and the environment ISBN:0-683-40008-8 greater than the expected number of a malignant neoplasm arising from liver cells, usually in adults and caused by liver trauma due to disease or injury, occurring in a specific population in a given time period MP:0005510 liver neoplasia liver neoplasm neoplastic liver MPheno.ontology HCC hepatocellular carcinoma malignant hepatoma MP:0003331 increased hepatocellular carcinoma incidence MP:0003331 greater than the expected number of a malignant neoplasm arising from liver cells, usually in adults and caused by liver trauma due to disease or injury, occurring in a specific population in a given time period NCBI:matt collection of purulent exudate within the liver as a result of infection by bacteria, protozoa, or other agents hepatic abscess MPheno.ontology MP:0003332 liver abscess MP:0003332 collection of purulent exudate within the liver as a result of infection by bacteria, protozoa, or other agents NCBI:matt invasion of fibrous connective tissue into the liver, often resulting from inflammation or injury hepatic fibrosis MPheno.ontology MP:0003333 liver fibrosis MP:0003333 invasion of fibrous connective tissue into the liver, often resulting from inflammation or injury MESH:C23.550.355 NCBI:matt invasion of fibrous connective tissue into the pancreas, often resulting from inflammation or injury pancreatic fibrosis MPheno.ontology MP:0003334 pancreas fibrosis MP:0003334 invasion of fibrous connective tissue into the pancreas, often resulting from inflammation or injury MESH:C23.550.355 NCBI:matt inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients MPheno.ontology MP:0003335 exocrine pancreatic insufficiency MP:0003335 inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 presence of one or more abnormal fluid-filled sacs within the pancreas cystic pancreas pancreas cysts pancreatic cyst pancreatic cysts MPheno.ontology MP:0003336 pancreas cyst MP:0003336 presence of one or more abnormal fluid-filled sacs within the pancreas NCBI:matt increase in the number of normal cells in normal arrangement in the exocrine pancreas, typically resulting in increased size exocrine pancreatic hyperplasia hyperplastic exocrine pancreas MPheno.ontology increased exocrine pancreas cellularity MP:0003337 exocrine pancreas hyperplasia MP:0003337 increase in the number of normal cells in normal arrangement in the exocrine pancreas, typically resulting in increased size MESH:A03.734.540 NCBI:matt an accumulation of abnormally localized or tumor-like fat in the pancreas pancreatic lipomatosis MPheno.ontology MP:0003338 pancreas lipomatosis MP:0003338 an accumulation of abnormally localized or tumor-like fat in the pancreas MESH:C17.800.463 NCBI:matt fewer than normal number of the cells of the pancreas that secrete insulin decreased number of pancreatic beta cells reduced pancreatic beta cell number MPheno.ontology MP:0003339 decreased pancreatic beta cell number MP:0003339 fewer than normal number of the cells of the pancreas that secrete insulin MESH:A03.734.414.131 NCBI:matt early and often transient reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into the pancreas; initiated by injury, infection, or local immune response MPheno.ontology MP:0003340 acute pancreas inflammation MP:0003340 early and often transient reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into the pancreas; initiated by injury, infection, or local immune response NCBI:matt persistent inflammatory response in the pancreas, often caused by persistent infection or during an autoimmune response MPheno.ontology MP:0003341 chronic pancreas inflammation MP:0003341 persistent inflammatory response in the pancreas, often caused by persistent infection or during an autoimmune response NCBI:matt the splenic tissue is divided into equal masses; often related to situs inversus Fyler:4772 MPheno.ontology polysplenia MP:0003342 accessory spleen MP:0003342 the splenic tissue is divided into equal masses; often related to situs inversus ISBN:0-683-40008-8 NCBI:matt true MP:0003343 decrease in the number of normal cells in normal arrangement in the mammary gland, typically resulting in decreased size Brustdruese hypoplasia Lactiferous gland hypoplasia Lobe of breast hypoplasia Lobe of mammary gland hypoplasia breast hypoplasia glandula mammaria hypoplasia lactiferous gland hypoplasia lobe of breast hypoplasia lobe of mammary gland hypoplasia mamma hypoplasia mammae hypoplasia MPheno.ontology MP:0003344 mammary gland hypoplasia MP:0003344 decrease in the number of normal cells in normal arrangement in the mammary gland, typically resulting in decreased size NCBI:matt fewer than normal numbers of the pairs of bony structures that make up the body wall decreased number of ribs reduced rib number MPheno.ontology MP:0003345 decreased rib number MP:0003345 fewer than normal numbers of the pairs of bony structures that make up the body wall ISBN:0-683-40008-8 NCBI:matt any structural anomaly of the two muscles that make up the upper and fore part of the chest that adduct and rotate the arm and lift the ribs abnormal pectoralis muscle morphology MPheno.ontology MP:0003346 abnormal pectoral muscle morphology MP:0003346 any structural anomaly of the two muscles that make up the upper and fore part of the chest that adduct and rotate the arm and lift the ribs ISBN:0-683-40008-8 MESH:A02.633.567.775 NCBI:matt abnormal pectoralis muscle morphology MESH:A02.633.567.775 hypersecretion of adenohypophyseal hormones from the glandular, anterior portion of the pituitary; often due to a functional adenoma increased pituitary hormone secretion MPheno.ontology MP:0003347 hyperpituitarism MP:0003347 hypersecretion of adenohypophyseal hormones from the glandular, anterior portion of the pituitary; often due to a functional adenoma MESH:C10.228.140.617.738.250 NCBI:matt reduction or cessation of secretion of one or more hormones from the anterior pituitary gland; this may result from ablation, tumors, infarction, or other trauma pituitary insufficiency reduced pituitary hormone secretion MPheno.ontology MP:0003348 hypopituitarism MP:0003348 reduction or cessation of secretion of one or more hormones from the anterior pituitary gland; this may result from ablation, tumors, infarction, or other trauma MESH:C10.228.140.617.738.300 NCBI:matt aberrant blood level of the enzyme which is secreted by the kidney and cleaves a bond in angiotensionogen to generate angiotensin I MPheno.ontology MP:0003349 abnormal circulating renin level MP:0003349 aberrant blood level of the enzyme which is secreted by the kidney and cleaves a bond in angiotensionogen to generate angiotensin I MESH:D08.811.277.656.300.066.780 NCBI:matt increased concentration of hormones in the blood that are synthesized and secreted by the thyroid MPheno.ontology MP:0003350 increased circulating levels of thyroid hormone MP:0003350 increased concentration of hormones in the blood that are synthesized and secreted by the thyroid NCBI:matt reduced concentration of hormones in the blood that are synthesized and secreted by the thyroid reduced circulating levels of thyroid hormone MPheno.ontology MP:0003351 decreased circulating levels of thyroid hormone MP:0003351 reduced concentration of hormones in the blood that are synthesized and secreted by the thyroid NCBI:matt elevated blood level of the enzyme which is secreted by the kidney and cleaves a bond in angiotensionogen to generate angiotensin I MPheno.ontology MP:0003352 increased circulating renin level MP:0003352 elevated blood level of the enzyme which is secreted by the kidney and cleaves a bond in angiotensionogen to generate angiotensin I MESH:D08.811.277.656.300.066.780 NCBI:matt reduced blood level of the enzyme which is secreted by the kidney and cleaves a bond in angiotensionogen to generate angiotensin I reduced circulating renin level MPheno.ontology MP:0003353 decreased circulating renin level MP:0003353 reduced blood level of the enzyme which is secreted by the kidney and cleaves a bond in angiotensionogen to generate angiotensin I MESH:D08.811.277.656.300.066.780 NCBI:matt a proliferation or spread of astrocytes into the area of a degenerative lesion or damaged tissue astrogliosis reactive astrogliosis MPheno.ontology MP:0003354 astrocytosis MP:0003354 a proliferation or spread of astrocytes into the area of a degenerative lesion or damaged tissue MESH:C23.550.369 reduction in the frequency in which an ovum (or ova) is/are released from a rupturing ovarian follicle(s) reduced ovulation decreased ovulation frequency MPheno.ontology MP:0003355 decreased ovulation rate MP:0003355 reduction in the frequency in which an ovum (or ova) is/are released from a rupturing ovarian follicle(s) ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 atypical transformation of the mature ovarian follicle and its theca interna into a corpus luteum after ovulation impaired luteinisation MPheno.ontology impaired luteal phase MP:0003356 impaired luteinization MP:0003356 atypical transformation of the mature ovarian follicle and its theca interna into a corpus luteum after ovulation J:43075 J:57854 https://orcid.org/0000-0002-6490-7723 atypical production of or inability to produce the supporting cells for the developing female gamete in the ovary of mammals; granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle MPheno.ontology MP:0003357 impaired granulosa cell differentiation MP:0003357 atypical production of or inability to produce the supporting cells for the developing female gamete in the ovary of mammals; granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle MESH:A.05.360.319.114.630.535.200 any structural anomaly of the muscles derived from the lateral myotome and lateral portion of the dermomyotome; these include the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue MPheno.ontology MP:0003358 abnormal hypaxial muscle morphology MP:0003358 any structural anomaly of the muscles derived from the lateral myotome and lateral portion of the dermomyotome; these include the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue PMID:1591996 decrease in the number of normal cells in normal arrangement in the hypaxial muscle, typically resulting in decreased size hypoplastic hypaxial muscle MPheno.ontology MP:0003359 hypaxial muscle hypoplasia MP:0003359 decrease in the number of normal cells in normal arrangement in the hypaxial muscle, typically resulting in decreased size PMID:1591996 responses to a stressful situation or stimulus, or failure to seek pleasurable stimuli abnormal depression-related behaviour MPheno.ontology MP:0003360 abnormal depression-related behavior MP:0003360 responses to a stressful situation or stimulus, or failure to seek pleasurable stimuli RGD:cur aberrant blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis MPheno.ontology MP:0003361 abnormal circulating gonadotropin level MP:0003361 aberrant blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis MESH:D06.472.699.322 greater than the normal blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis MPheno.ontology MP:0003362 increased circulating gonadotropin level MP:0003362 greater than the normal blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis MESH:D06.472.699.322 NCBI:matt less than the normal blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis reduced circulating gonadotropin level MPheno.ontology MP:0003363 decreased circulating gonadotropin level MP:0003363 less than the normal blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis MESH:D06.472.699.322 NCBI:matt greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the pancreatic islet beta cells, occurring in a specific population in a given time period; these tumors secrete excess insulin increased beta-cell adenoma incidence increased beta-cell tumor incidence increased insuloma incidence increased pancreatic beta cell tumor incidence MPheno.ontology MP:0003364 increased insulinoma incidence MP:0003364 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the pancreatic islet beta cells, occurring in a specific population in a given time period; these tumors secrete excess insulin ISBN:0-683-40008-8 NCBI:matt greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the pancreatic islet alpha cells, occurring in a specific population in a given time period; these tumors secrete excess glucagon increased alpha-cell adenoma incidence increased alpha-cell tumor incidence MPheno.ontology MP:0003365 increased glucagonoma incidence MP:0003365 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the pancreatic islet alpha cells, occurring in a specific population in a given time period; these tumors secrete excess glucagon MESH:C04.557.470.200.025.290.750 NCBI:matt https://orcid.org/0000-0003-3691-0324 aberrant blood concentration of the corticosteroids regulating carbohydrate metabolism and exhibiting anti-inflammatory activity MPheno.ontology MP:0003366 abnormal circulating glucocorticoid level MP:0003366 aberrant blood concentration of the corticosteroids regulating carbohydrate metabolism and exhibiting anti-inflammatory activity ISBN:0-683-40008-8 NCBI:matt greater than normal blood concentration of the corticosteroids regulating carbohydrate metabolism and exhibiting anti-inflammatory activity MPheno.ontology MP:0003367 increased circulating glucocorticoid level MP:0003367 greater than normal blood concentration of the corticosteroids regulating carbohydrate metabolism and exhibiting anti-inflammatory activity NCBI:matt less than normal blood concentration of the corticosteroids regulating carbohydrate metabolism and exhibiting anti-inflammatory activity MPheno.ontology reduced circulating glucocorticoid level MP:0003368 decreased circulating glucocorticoid level MP:0003368 less than normal blood concentration of the corticosteroids regulating carbohydrate metabolism and exhibiting anti-inflammatory activity NCBI:matt aberration in the blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics MPheno.ontology MP:0003369 abnormal circulating estrogen level MP:0003369 aberration in the blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics ISBN:0-683-40008-8 NCBI:matt greater than normal blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics increased circulating oestrogen level MPheno.ontology MP:0003370 increased circulating estrogen level MP:0003370 greater than normal blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics NCBI:matt reduction in the blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics decreased circulating oestrogen level reduced circulating estrogen level reduced circulating oestrogen level MPheno.ontology MP:0003371 decreased circulating estrogen level MP:0003371 reduction in the blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics NCBI:matt aberrant blood concentration of corticosteroids that influence water and electrolyte metabolism and balance MPheno.ontology MP:0003372 abnormal circulating mineralocorticoid level MP:0003372 aberrant blood concentration of corticosteroids that influence water and electrolyte metabolism and balance ISBN:0-683-40008-8 NCBI:matt greater than normal blood concentration of corticosteroids that influence water and electrolyte metabolism and balance MPheno.ontology MP:0003373 increased circulating mineralocorticoid level MP:0003373 greater than normal blood concentration of corticosteroids that influence water and electrolyte metabolism and balance ISBN:0-683-40008-8 NCBI:matt less than normal blood concentration of corticosteroids that influence water and electrolyte metabolism and balance reduced circulating mineralocorticoid level MPheno.ontology MP:0003374 decreased circulating mineralocorticoid level MP:0003374 less than normal blood concentration of corticosteroids that influence water and electrolyte metabolism and balance ISBN:0-683-40008-8 NCBI:matt failure of or aberrant timing of a recurring cycle in human primates in which the endometrial lining of the uterus prepares for pregnancy and ovulation occurs; if pregnancy does not occur the lining is discharged at menstruation MPheno.ontology MP:0003375 abnormal menstrual cycle MP:0003375 failure of or aberrant timing of a recurring cycle in human primates in which the endometrial lining of the uterus prepares for pregnancy and ovulation occurs; if pregnancy does not occur the lining is discharged at menstruation NCBI:matt absence or abnormal cessation of the shedding of the endometrium and associated bleeding in primates absent menstruation MPheno.ontology MP:0003376 amenorrhea MP:0003376 absence or abnormal cessation of the shedding of the endometrium and associated bleeding in primates MESH:C23.550.568.500 NCBI:matt the onset of menstrual cycles occurs at a later age than normal MPheno.ontology MP:0003377 late onset of menarche MP:0003377 the onset of menstrual cycles occurs at a later age than normal NCBI:matt pubertal changes occur at an earlier than normal age early onset of sexual maturity precocious puberty MPheno.ontology MP:0003378 early sexual maturation MP:0003378 pubertal changes occur at an earlier than normal age NCBI:matt failure to initiate pubertal changes that result in achievement of full sexual capacity MPheno.ontology MP:0003379 absent sexual maturation MP:0003379 failure to initiate pubertal changes that result in achievement of full sexual capacity NCBI:matt anomaly in the renewal, repair, and/or regrowth of intestinal tissue following injury or disease abnormal intestinal regeneration MPheno.ontology MP:0003380 abnormal intestine regeneration MP:0003380 anomaly in the renewal, repair, and/or regrowth of intestinal tissue following injury or disease https://orcid.org/0000-0002-6490-7723 production of excess fibrous tissue in the vitreous body of the eye corpus vitreum fibroplasia hyaloid body fibroplasia vitreal body fibroplasia vitreous body fibroplasia vitreum fibroplasia MPheno.ontology MP:0003381 vitreal fibroplasia MP:0003381 production of excess fibrous tissue in the vitreous body of the eye MGI:brs condition in which an animal carries its tail in an erect (vertical or nearly vertical) position; often seen upon opioid and other drug treatment MPheno.ontology MP:0003382 straub tail MP:0003382 condition in which an animal carries its tail in an erect (vertical or nearly vertical) position; often seen upon opioid and other drug treatment https://orcid.org/0000-0003-3691-0324 anomaly in the formation of glucose from non-carbohydrates, such as proteins or fat MPheno.ontology MP:0003383 abnormal gluconeogenesis MP:0003383 anomaly in the formation of glucose from non-carbohydrates, such as proteins or fat J:93896 any structural anomaly of the anterior portion of a human body or the lower surface of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity ventral body wall defects MPheno.ontology MP:0003384 abnormal ventral body wall morphology MP:0003384 any structural anomaly of the anterior portion of a human body or the lower surface of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity https://orcid.org/0000-0003-3691-0324 https://orcid.org/0009-0005-7755-8314 any structural anomaly of the external portion of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity MPheno.ontology MP:0003385 abnormal body wall morphology MP:0003385 any structural anomaly of the external portion of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity https://orcid.org/0000-0003-3691-0324 OBSOLETE. decreased threshold to obtain a physiological or behavioral response to nicotine decreased resistance to nicotine increased susceptibility to nicotine nicotine hypersensitivity MPheno.ontology MP:0003386 obsolete increased sensitivity to nicotine true MP:0003386 OBSOLETE. decreased threshold to obtain a physiological or behavioral response to nicotine https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 a congenital focal constriction of the aorta most commonly found just distal to the origin of the left subclavian artery; the most commonly found form is juxtaductal coarctation, but it may occur at any point from the transverse arch to the iliac bifurcation aortic coarctation coarctation of aorta MPheno.ontology MP:0003387 aorta coarctation MP:0003387 a congenital focal constriction of the aorta most commonly found just distal to the origin of the left subclavian artery; the most commonly found form is juxtaductal coarctation, but it may occur at any point from the transverse arch to the iliac bifurcation NCBI:matt http://emedicine.medscape.com absence of the fibroserous membrane covering the heart and beginning of the great vessels Fyler:1910 absent pericardial sac pericardial agenesis MPheno.ontology MP:0003388 absent pericardium MP:0003388 absence of the fibroserous membrane covering the heart and beginning of the great vessels NCBI:matt https://orcid.org/0000-0003-4606-0597 tightening of the pericardium around the heart MPheno.ontology MP:0003389 constriction of pericardium MP:0003389 tightening of the pericardium around the heart NCBI:matt https://orcid.org/0000-0003-4606-0597 abnormal swelling in the soft tissues of the limbs, or less often the trunk, caused by the buildup of lymph fluid MPheno.ontology MP:0003390 lymphedema MP:0003390 abnormal swelling in the soft tissues of the limbs, or less often the trunk, caused by the buildup of lymph fluid NCBI:matt https://orcid.org/0000-0003-4606-0597 higher than normal incidence of a benign neoplasm derived from pluripotential mesenchymal stem cells of connective tissue, consisting chiefly of polyhedral and stellate cells that are loosely embedded in a soft mucoid matrix; may show multiple differentiated components MPheno.ontology myxoma MP:0003391 increased myxoma incidence MP:0003391 higher than normal incidence of a benign neoplasm derived from pluripotential mesenchymal stem cells of connective tissue, consisting chiefly of polyhedral and stellate cells that are loosely embedded in a soft mucoid matrix; may show multiple differentiated components MPATH:431 higher than normal incidence of a benign neoplasm derived from pluripotential mesenchymal stem cells of either the left or right atrium connective tissue, consisting chiefly of polyhedral and stellate cells that are loosely embedded in a soft mucoid matrix; an increase in primary intracardiac tumor incidence MPheno.ontology atrial myxoma MP:0003392 increased atrial myxoma incidence MP:0003392 higher than normal incidence of a benign neoplasm derived from pluripotential mesenchymal stem cells of either the left or right atrium connective tissue, consisting chiefly of polyhedral and stellate cells that are loosely embedded in a soft mucoid matrix; an increase in primary intracardiac tumor incidence MPATH:431 reduction in the blood volume pumped by each ventricle per minute reduced cardiac output MPheno.ontology MP:0003393 decreased cardiac output MP:0003393 reduction in the blood volume pumped by each ventricle per minute MESH:E01.370.370.380.150 NCBI:matt https://orcid.org/0000-0003-4606-0597 greater than normal blood volume pumped by each ventricle per minute MPheno.ontology MP:0003394 increased cardiac output MP:0003394 greater than normal blood volume pumped by each ventricle per minute MESH:E01.370.370.380.150 NCBI:matt https://orcid.org/0000-0003-4606-0597 any structural anomaly of the right or left subclavian arteries; the right subclavian artery normally extends from the brachiocephalic artery to the right side of the body and the left subclavian artery extends from the aortic arch to the left side of the body MPheno.ontology MP:0003395 abnormal subclavian artery morphology MP:0003395 any structural anomaly of the right or left subclavian arteries; the right subclavian artery normally extends from the brachiocephalic artery to the right side of the body and the left subclavian artery extends from the aortic arch to the left side of the body NCBI:matt https://orcid.org/0000-0003-4606-0597 anomaly in the development of primarily large, nucleated erythroblasts as well as some megakaryocytes and primitive macrophages that circulate in the embryonic and extraembryonic tissues, and which occurs in blood islands in the yolk sac from E7-E11 in the mouse and through 10 weeks in humans abnormal embryonic haematopoiesis abnormal primitive haematopoiesis abnormal primitive hematopoiesis MPheno.ontology MP:0003396 abnormal embryonic hematopoiesis MP:0003396 anomaly in the development of primarily large, nucleated erythroblasts as well as some megakaryocytes and primitive macrophages that circulate in the embryonic and extraembryonic tissues, and which occurs in blood islands in the yolk sac from E7-E11 in the mouse and through 10 weeks in humans J:94136 https://orcid.org/0000-0003-4606-0597 greater than average muscle weight MPheno.ontology MP:0003397 increased muscle weight MP:0003397 greater than average muscle weight J:94134 https://orcid.org/0000-0003-4606-0597 greater than average dimensions of one or more of the muscles of the skeleton MPheno.ontology MP:0003398 increased skeletal muscle size MP:0003398 greater than average dimensions of one or more of the muscles of the skeleton J:94134 https://orcid.org/0000-0003-4606-0597 true MP:0003399 twists or kinks in the embryonic neural tube MPheno.ontology MP:0003400 kinked neural tube MP:0003400 twists or kinks in the embryonic neural tube https://orcid.org/0000-0002-6490-7723 increased size or area of the primordial region of the embryo that arises to form the tail of the adult increased tail bud size MPheno.ontology MP:0003401 enlarged tail bud MP:0003401 increased size or area of the primordial region of the embryo that arises to form the tail of the adult https://orcid.org/0000-0002-6490-7723 reduced average weight of the bile-secreting exocrine gland decreased hepatic weight reduced hepatic weight reduced liver weight MPheno.ontology MP:0003402 decreased liver weight MP:0003402 reduced average weight of the bile-secreting exocrine gland https://orcid.org/0000-0003-3691-0324 absence of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood MPheno.ontology MP:0003403 absent placental labyrinth MP:0003403 absence of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood https://orcid.org/0000-0002-6490-7723 absence of the hard outer coating of the exposed portion of the tooth MPheno.ontology MP:0003404 absent enamel MP:0003404 absence of the hard outer coating of the exposed portion of the tooth ISBN:0-683-40008-8 any anomaly in the characteristic surface outline or contour of the normal small, disk-like shape of blood plasma cells derived from megakaryocytes and which function to promote blood clotting abnormal thrombocyte shape MPheno.ontology MP:0003405 abnormal platelet shape MP:0003405 any anomaly in the characteristic surface outline or contour of the normal small, disk-like shape of blood plasma cells derived from megakaryocytes and which function to promote blood clotting MESH:A11.118.188 inability of a fertilized oocyte to initiate or complete early cell divisions MPheno.ontology MP:0003406 failure of zygotic cell division MP:0003406 inability of a fertilized oocyte to initiate or complete early cell divisions https://orcid.org/0000-0003-3691-0324 anomaly in the renewal, repair, and/or regrowth of central nervous system tissue following injury or disease abnormal CNS regeneration MPheno.ontology MP:0003407 abnormal central nervous system regeneration MP:0003407 anomaly in the renewal, repair, and/or regrowth of central nervous system tissue following injury or disease https://orcid.org/0000-0002-6490-7723 increased width of cartilage cell matrix layer MPheno.ontology MP:0003408 increased width of hypertrophic chondrocyte zone MP:0003408 increased width of cartilage cell matrix layer ISBN:0-683-40008-8 decreased width of cartilage cell matrix layer reduced width of hypertrophic chondrocyte zone MPheno.ontology MP:0003409 decreased width of hypertrophic chondrocyte zone MP:0003409 decreased width of cartilage cell matrix layer ISBN:0-683-40008-8 anomaly in the process of forming the blood vessels that carry blood away from the heart MPheno.ontology MP:0003410 abnormal artery development MP:0003410 anomaly in the process of forming the blood vessels that carry blood away from the heart MESH:A07.231.114 https://orcid.org/0000-0003-4606-0597 anomaly in the process of forming the blood vessels that carry blood to the heart MPheno.ontology MP:0003411 abnormal vein development MP:0003411 anomaly in the process of forming the blood vessels that carry blood to the heart https://orcid.org/0000-0003-4606-0597 anomaly in the currents that follow an action potential and influence firing frequency and neuronal integration abnormal AHP MPheno.ontology MP:0003412 abnormal afterhyperpolarization MP:0003412 anomaly in the currents that follow an action potential and influence firing frequency and neuronal integration PMID:15190101 https://orcid.org/0000-0003-4606-0597 a retrogressive impairment of function or destruction of the hair follicle MPheno.ontology MP:0003413 hair follicle degeneration MP:0003413 a retrogressive impairment of function or destruction of the hair follicle https://orcid.org/0009-0005-7755-8314 presence of one or more benign masses derived from the epidermis or the epithelium of a hair follicle, formed by enclosure of epithelium within the dermis and filled with keratin and lipid-rich inclusions cystic epidermis epidermal cysts MPheno.ontology MP:0003414 epidermal cyst MP:0003414 presence of one or more benign masses derived from the epidermis or the epithelium of a hair follicle, formed by enclosure of epithelium within the dermis and filled with keratin and lipid-rich inclusions ISBN:0-683-40008-8 MESH:C04.182.254 MGI:llw2 https://orcid.org/0009-0005-7755-8314 prolonged penile erection, often painful and without sexual desire MPheno.ontology MP:0003415 priapism MP:0003415 prolonged penile erection, often painful and without sexual desire MESH:C12.294.494.786 https://orcid.org/0000-0003-4606-0597 early onset of the formation of bone MPheno.ontology MP:0003416 premature bone ossification MP:0003416 early onset of the formation of bone https://orcid.org/0000-0003-4606-0597 early onset of bone formation in bones that form from cartilage MPheno.ontology MP:0003417 premature endochondral bone ossification MP:0003417 early onset of bone formation in bones that form from cartilage J:94631 https://orcid.org/0000-0003-4606-0597 early onset of bone formation in bones that form without a cartilaginous intermediate including the cranium and clavicle MPheno.ontology MP:0003418 premature intramembranous bone ossification MP:0003418 early onset of bone formation in bones that form without a cartilaginous intermediate including the cranium and clavicle https://orcid.org/0000-0003-4606-0597 late onset of bone formation in bones that form from cartilage MPheno.ontology MP:0003419 delayed endochondral bone ossification MP:0003419 late onset of bone formation in bones that form from cartilage J:94631 https://orcid.org/0000-0003-4606-0597 late onset of bone formation in bones that form without a cartilaginous intermediate including the cranium and clavicle MPheno.ontology MP:0003420 delayed intramembranous bone ossification MP:0003420 late onset of bone formation in bones that form without a cartilaginous intermediate including the cranium and clavicle J:94631 https://orcid.org/0000-0003-4606-0597 failure or abnormality in the formation of the thyroid gland during organogenesis MPheno.ontology abnormal thyroid development MP:0003421 abnormal thyroid gland development MP:0003421 failure or abnormality in the formation of the thyroid gland during organogenesis J:95017 https://orcid.org/0000-0003-4606-0597 altered ability to break up (lyse) blood clots that are restricting the blood flow MPheno.ontology MP:0003422 abnormal thrombolysis MP:0003422 altered ability to break up (lyse) blood clots that are restricting the blood flow J:17427 https://orcid.org/0000-0002-6490-7723 reduced ability or inability to break up (lyse) blood clots that are restricting the blood flow MPheno.ontology MP:0003423 reduced thrombolysis MP:0003423 reduced ability or inability to break up (lyse) blood clots that are restricting the blood flow J:17427 https://orcid.org/0000-0002-6490-7723 earlier than normal transformation of neuronal precursor cells into neurons MPheno.ontology MP:0003424 premature neuronal precursor differentiation MP:0003424 earlier than normal transformation of neuronal precursor cells into neurons J:94391 https://orcid.org/0000-0003-4606-0597 anomalous formation of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop MPheno.ontology MP:0003425 abnormal optic vesicle formation MP:0003425 anomalous formation of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop J:94391 https://orcid.org/0000-0003-4606-0597 formation of fibrous tissue within the interstices of the lung as a result of repair or a reactive process MPheno.ontology MP:0003426 pulmonary interstitial fibrosis MP:0003426 formation of fibrous tissue within the interstices of the lung as a result of repair or a reactive process https://orcid.org/0000-0002-6490-7723 thickening of the stratum corneum of the epidermis (hyperkeratosis) with nucleated keratinocytes retained in this layer parakeratotic hyperkeratosis MPheno.ontology MP:0003427 parakeratosis MP:0003427 thickening of the stratum corneum of the epidermis (hyperkeratosis) with nucleated keratinocytes retained in this layer ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0003428 no growth response to exogenous growth hormone MPheno.ontology MP:0003429 insensitivity to growth hormone MP:0003429 no growth response to exogenous growth hormone NCBI:matt greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the islet cells of the pancreas, occurring in a specific population in a given time period MPheno.ontology MP:0003430 increased pancreatic islet cell adenoma incidence MP:0003430 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the islet cells of the pancreas, occurring in a specific population in a given time period NCBI:matt any functional anomaly of this paired endocrine gland that normally produces parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism MPheno.ontology MP:0003431 abnormal parathyroid gland physiology MP:0003431 any functional anomaly of this paired endocrine gland that normally produces parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism NCBI:matt increased function of this paired endocrine gland that normally produces parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism hyperparathyroidism MPheno.ontology MP:0003432 increased activity of parathyroid MP:0003432 increased function of this paired endocrine gland that normally produces parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism NCBI:matt reduced function of this paired endocrine gland that normally produces parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism hypoparathyroidism reduced activity of parathyroid MPheno.ontology MP:0003433 decreased activity of parathyroid MP:0003433 reduced function of this paired endocrine gland that normally produces parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism NCBI:matt reduction or absence of growth of new, abnormal blood vessels that originate in the choroid through a break in the Bruch membrane into the sub-retinal pigment epithelium or subretinal space and may result in visual loss as a result of chemical or mechanical manipulation (e.g. laser-induced trauma) increased resistance to induced choroidal neovascularization MPheno.ontology MP:0003434 decreased susceptibility to induced choroidal neovascularization MP:0003434 reduction or absence of growth of new, abnormal blood vessels that originate in the choroid through a break in the Bruch membrane into the sub-retinal pigment epithelium or subretinal space and may result in visual loss as a result of chemical or mechanical manipulation (e.g. laser-induced trauma) https://orcid.org/0000-0002-6490-7723 protrusion of the seminal vesicles through the pelvic outlet herniated seminal glands herniated seminal vesicles MPheno.ontology MP:0003435 herniated seminal vesicle MP:0003435 protrusion of the seminal vesicles through the pelvic outlet J:73613 https://orcid.org/0000-0002-6490-7723 less likely to be stricken with changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures that are induced by inflammatory responses caused by chemical or mechanical agents increased resistance to induced arthritis MPheno.ontology MP:0003436 decreased susceptibility to induced arthritis MP:0003436 less likely to be stricken with changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures that are induced by inflammatory responses caused by chemical or mechanical agents https://orcid.org/0000-0002-6490-7723 any structural anomaly of a small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control MPheno.ontology MP:0003437 abnormal carotid body morphology MP:0003437 any structural anomaly of a small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control ISBN:0-683-40008-8 MESH:A08.800.550.700.120.600.150 https://orcid.org/0009-0005-7755-8314 any functional anomaly in a small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control MPheno.ontology MP:0003438 abnormal carotid body physiology MP:0003438 any functional anomaly in a small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control ISBN:0-683-40008-8 MESH:A08.800.550.700.120.600.150 https://orcid.org/0009-0005-7755-8314 abnormal level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source MPheno.ontology MP:0003439 abnormal glycerol level MP:0003439 abnormal level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source https://orcid.org/0000-0003-3691-0324 reduced level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source reduced glycerol level MPheno.ontology MP:0003440 decreased glycerol level MP:0003440 reduced level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source https://orcid.org/0000-0003-3691-0324 elevated level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source MPheno.ontology MP:0003441 increased glycerol level MP:0003441 elevated level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source https://orcid.org/0000-0003-3691-0324 reduced blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source reduced circulating glycerol level MPheno.ontology MP:0003442 decreased circulating glycerol level MP:0003442 reduced blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source https://orcid.org/0000-0003-3691-0324 elevated blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source hyperglycerolaemia hyperglycerolemia MPheno.ontology MP:0003443 increased circulating glycerol level MP:0003443 elevated blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source https://orcid.org/0000-0003-3691-0324 hyperglycerolemia HP:0040302 aberration in the reabsorption of endogenous signaling molecules released into a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell MPheno.ontology MP:0003444 abnormal neurotransmitter uptake MP:0003444 aberration in the reabsorption of endogenous signaling molecules released into a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell GO:0007269 https://orcid.org/0000-0003-3691-0324 fusion of the caudal-most (posterior or lower) limbs often with partial or complete fusion of the autopods mermaid malformation symmelia sympus MPheno.ontology MP:0003445 sirenomelia MP:0003445 fusion of the caudal-most (posterior or lower) limbs often with partial or complete fusion of the autopods ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the kidney, typically resulting in decreased size hypoplastic kidney kidney hypoplasia MPheno.ontology MP:0003446 renal hypoplasia MP:0003446 decrease in the number of normal cells in normal arrangement in the kidney, typically resulting in decreased size MGI:llw2 less than expected development of tumorous growth when compared to controls decreased neoplasm growth/size decreased tumour growth/size reduced tumor growth/size reduced tumour growth/size MPheno.ontology MP:0003447 decreased tumor growth/size MP:0003447 less than expected development of tumorous growth when compared to controls J:65383 https://orcid.org/0000-0002-6490-7723 any structural anomaly of a given tumor type compared to controls abnormal neoplasm morphology abnormal tumour morphology altered tumor characteristics altered tumor morphology altered tumour characteristics altered tumour morphology MPheno.ontology MP:0003448 abnormal tumor morphology MP:0003448 any structural anomaly of a given tumor type compared to controls https://orcid.org/0000-0002-6490-7723 any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the small and large intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus; the goblet cell is a highly polarized unicellular exocrine gland with the nucleus and other organelles concentrated at the base of the cell; the remainder of the cell's cytoplasm is occupied by membrane-bound secretory granules containing mucin; the goblet shape is due to the mucus laden granules in the apical part expanding, causing that part of the cell to balloon; the apical plasma membrane projects microvilli to give an increased surface area for secretion abnormal intestinal goblet cells MPheno.ontology MP:0003449 abnormal intestinal goblet cell morphology MP:0003449 any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the small and large intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus; the goblet cell is a highly polarized unicellular exocrine gland with the nucleus and other organelles concentrated at the base of the cell; the remainder of the cell's cytoplasm is occupied by membrane-bound secretory granules containing mucin; the goblet shape is due to the mucus laden granules in the apical part expanding, causing that part of the cell to balloon; the apical plasma membrane projects microvilli to give an increased surface area for secretion CL:1000317 http://en.wikipedia.org/wiki/Goblet_cell https://orcid.org/0000-0002-6490-7723 increase of the size of the pancreas compared to controls increased pancreas size MPheno.ontology MP:0003450 enlarged pancreas MP:0003450 increase of the size of the pancreas compared to controls https://orcid.org/0000-0003-3691-0324 absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex MPheno.ontology MP:0003451 absent olfactory bulb MP:0003451 absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex ISBN:0-683-40008-8 any structural anomaly of either of the largest of the major salivary glands situated below and in front of each ear abnormal external salivary gland morphology abnormal glandula parotidea morphology abnormal glandula parotis morphology MPheno.ontology MP:0003452 abnormal parotid gland morphology MP:0003452 any structural anomaly of either of the largest of the major salivary glands situated below and in front of each ear https://orcid.org/0000-0003-4606-0597 abnormal function of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum MPheno.ontology MP:0003453 abnormal keratinocyte physiology MP:0003453 abnormal function of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum ISBN:0-683-40008-8 https://orcid.org/0009-0005-7755-8314 exfoliation and widespread, intense reddening of the skin due to inflammatory skin disease MPheno.ontology MP:0003454 erythroderma MP:0003454 exfoliation and widespread, intense reddening of the skin due to inflammatory skin disease J:95549 https://orcid.org/0000-0003-4606-0597 reduced or absent pathological changes in the retina due to chemical or mechanical agents decreased susceptibility to induced retinal damage increased resistance to induced retina damage increased resistance to induced retinal damage MPheno.ontology MP:0003455 decreased susceptibility to induced retina damage MP:0003455 reduced or absent pathological changes in the retina due to chemical or mechanical agents https://orcid.org/0000-0002-6490-7723 completely lacking the appendage at the caudal end of the vertebral column MP:0005080 tail less tailless MPheno.ontology MP:0003456 absent tail MP:0003456 completely lacking the appendage at the caudal end of the vertebral column https://orcid.org/0000-0003-3691-0324 aberrant amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acetone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus MPheno.ontology MP:0003457 Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in equilibrium with acetoacetate. abnormal circulating ketone body level MP:0003457 aberrant amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acetone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus ISBN:0-683-40008-8 less than the normal amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acetone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus hypoketonaemia hypoketonemia hypoketosis hypoketotic reduced circulating ketone body level MPheno.ontology MP:0003458 Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in equilibrium with acetoacetate. decreased circulating ketone body level MP:0003458 less than the normal amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acetone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus ISBN:0-683-40008-8 hypoketotic PMID:31324765 greater emotional response related to anticipation of specific pain or danger MPheno.ontology MP:0003459 increased fear-related response MP:0003459 greater emotional response related to anticipation of specific pain or danger MGI:CFG reduced emotional response related to anticipation of specific pain or danger reduced fear-related response MPheno.ontology MP:0003460 decreased fear-related response MP:0003460 reduced emotional response related to anticipation of specific pain or danger MGI:CFG altered behavioral reaction associated with exposing an animal to a novel object MPheno.ontology MP:0003461 abnormal response to novel object MP:0003461 altered behavioral reaction associated with exposing an animal to a novel object MGI:CFG altered behavioral reaction associated with exposing an animal to a novel odor abnormal response to novel odour MPheno.ontology MP:0003462 abnormal response to novel odor MP:0003462 altered behavioral reaction associated with exposing an animal to a novel odor MGI:CFG altered values from controls obtained upon extra- or intracellular recordings from single cells MPheno.ontology MP:0003463 abnormal single cell response MP:0003463 altered values from controls obtained upon extra- or intracellular recordings from single cells MGI:Nmice any change in the value at which a stimulus first elicits a recordable response recorded in a single cell MPheno.ontology MP:0003464 abnormal single cell response threshold MP:0003464 any change in the value at which a stimulus first elicits a recordable response recorded in a single cell MGI:Nmice increase in the value at which a stimulus first elicits a recordable response recorded in a single cell MPheno.ontology MP:0003465 increased single cell response threshold MP:0003465 increase in the value at which a stimulus first elicits a recordable response recorded in a single cell MGI:Nmice reduction in the value at which a stimulus first elicits a recordable response recorded in a single cell reduced single cell response threshold MPheno.ontology MP:0003466 decreased single cell response threshold MP:0003466 reduction in the value at which a stimulus first elicits a recordable response recorded in a single cell MGI:Nmice any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single cell MPheno.ontology MP:0003467 abnormal single cell response intensity MP:0003467 any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single cell MGI:Nmice increase in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single cell MPheno.ontology MP:0003468 increased single cell response intensity MP:0003468 increase in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single cell MGI:Nmice reduction in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single cell reduced single cell response intensity MPheno.ontology MP:0003469 decreased single cell response intensity MP:0003469 reduction in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single cell MGI:Nmice anomaly in the electrophysiological recording of the activity of several cells MPheno.ontology MP:0003470 abnormal summary potential MP:0003470 anomaly in the electrophysiological recording of the activity of several cells MGI:Nmice any change in the value at which a stimulus first elicits a recordable response recorded in several cells or a tissue slice MPheno.ontology MP:0003471 abnormal summary potential threshold MP:0003471 any change in the value at which a stimulus first elicits a recordable response recorded in several cells or a tissue slice MGI:Nmice increase in the value at which a stimulus first elicits a recordable response recorded in several cells or a tissue slice MPheno.ontology MP:0003472 increased summary potential threshold MP:0003472 increase in the value at which a stimulus first elicits a recordable response recorded in several cells or a tissue slice MGI:Nmice reduction in the value at which a stimulus first elicits a recordable response recorded in several cells or a tissue slice reduced summary potential threshold MPheno.ontology MP:0003473 decreased summary potential threshold MP:0003473 reduction in the value at which a stimulus first elicits a recordable response recorded in several cells or a tissue slice MGI:Nmice any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in several cells or a tissue slice MPheno.ontology MP:0003474 abnormal summary potential intensity MP:0003474 any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in several cells or a tissue slice MGI:Nmice increase in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in several cells or a tissue slice MPheno.ontology MP:0003475 increased summary potential intensity MP:0003475 increase in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in several cells or a tissue slice MGI:Nmice reduction in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in several cells or a tissue slice reduced summary potential intensity MPheno.ontology MP:0003476 decreased summary potential intensity MP:0003476 reduction in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in several cells or a tissue slice MGI:Nmice anomaly in the electrophysiological recordings from a single or several nerve fiber(s) abnormal nerve fibre response MPheno.ontology MP:0003477 abnormal nerve fiber response MP:0003477 anomaly in the electrophysiological recordings from a single or several nerve fiber(s) MGI:Nmice abnormal nerve fibre response https://orcid.org/0000-0002-6490-7723 any change in the value at which a stimulus first elicits a recordable response recorded in a single or several nerve fiber(s) abnormal nerve fibre response threshold MPheno.ontology MP:0003478 abnormal nerve fiber response threshold MP:0003478 any change in the value at which a stimulus first elicits a recordable response recorded in a single or several nerve fiber(s) MGI:Nmice any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single or several nerve fiber(s) abnormal nerve fibre response intensity MPheno.ontology MP:0003479 abnormal nerve fiber response intensity MP:0003479 any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single or several nerve fiber(s) MGI:Nmice abnormal nerve fibre response intensity https://orcid.org/0000-0002-6490-7723 increase in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single or several nerve fiber(s) increased nerve fibre response intensity MPheno.ontology MP:0003480 increased nerve fiber response intensity MP:0003480 increase in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single or several nerve fiber(s) MGI:Nmice increased nerve fibre response intensity https://orcid.org/0000-0002-6490-7723 reduction in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single or several nerve fiber(s) decreased nerve fibre response intensity reduced nerve fiber response intensity reduced nerve fibre response intensity MPheno.ontology MP:0003481 decreased nerve fiber response intensity MP:0003481 reduction in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single or several nerve fiber(s) MGI:Nmice increase in the value at which a stimulus first elicits a recordable response recorded in a single or several nerve fiber(s) increased nerve fibre response threshold MPheno.ontology MP:0003482 increased nerve fiber response threshold MP:0003482 increase in the value at which a stimulus first elicits a recordable response recorded in a single or several nerve fiber(s) MGI:Nmice increased nerve fibre response threshold https://orcid.org/0000-0002-6490-7723 reduction in the value at which a stimulus first elicits a recordable response recorded in a single or several nerve fiber(s) decreased nerve fibre response threshold reduced nerve fiber response threshold reduced nerve fibre response threshold MPheno.ontology MP:0003483 decreased nerve fiber response threshold MP:0003483 reduction in the value at which a stimulus first elicits a recordable response recorded in a single or several nerve fiber(s) MGI:Nmice anomalies in the electrophysiological recordings from ion channels MP:0002203 channel defects MPheno.ontology MP:0003484 abnormal channel response MP:0003484 anomalies in the electrophysiological recordings from ion channels MGI:Nmice any change in the value at which a stimulus first elicits a recordable response recorded from ion channels MPheno.ontology MP:0003485 abnormal channel response threshold MP:0003485 any change in the value at which a stimulus first elicits a recordable response recorded from ion channels MGI:Nmice any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded from ion channels MPheno.ontology MP:0003486 abnormal channel response intensity MP:0003486 any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded from ion channels MGI:Nmice increase in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded from ion channels MPheno.ontology MP:0003487 increased channel response intensity MP:0003487 increase in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded from ion channels MGI:Nmice reduction in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded from ion channels reduced channel response intensity MPheno.ontology MP:0003488 decreased channel response intensity MP:0003488 reduction in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded from ion channels MGI:Nmice increase in the value at which a stimulus first elicits a recordable response recorded from ion channels MPheno.ontology MP:0003489 increased channel response threshold MP:0003489 increase in the value at which a stimulus first elicits a recordable response recorded from ion channels MGI:Nmice reduction in the value at which a stimulus first elicits a recordable response recorded from ion channels reduced channel response threshold MPheno.ontology MP:0003490 decreased channel response threshold MP:0003490 reduction in the value at which a stimulus first elicits a recordable response recorded from ion channels MGI:Nmice anomaly in coordinated movements executed with a purpose and can be improved by learning and/or experience MPheno.ontology MP:0003491 abnormal voluntary movement MP:0003491 anomaly in coordinated movements executed with a purpose and can be improved by learning and/or experience MGI:Nmice anomaly in movements that occur independent of planning (e.g. reflexive behavior) MPheno.ontology MP:0003492 abnormal involuntary movement MP:0003492 anomaly in movements that occur independent of planning (e.g. reflexive behavior) MGI:Nmice increase in the number of normal cells in normal arrangement in the parathyroid gland, typically resulting in increased size hyperplastic parathyroid gland MPheno.ontology parathyroid hyperplasia MP:0003493 parathyroid gland hyperplasia MP:0003493 increase in the number of normal cells in normal arrangement in the parathyroid gland, typically resulting in increased size ISBN:0-683-40008-8 NCBI:matt https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the parathyroid gland, typically resulting in decreased size hypoplastic parathyroid gland MPheno.ontology MP:0003494 parathyroid hypoplasia MP:0003494 decrease in the number of normal cells in normal arrangement in the parathyroid gland, typically resulting in decreased size ISBN:0-683-40008-8 NCBI:matt https://orcid.org/0000-0003-3691-0324 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the parathyroid gland, occurring in a specific population in a given time period MPheno.ontology MP:0003495 increased parathyroid adenoma incidence MP:0003495 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the parathyroid gland, occurring in a specific population in a given time period NCBI:matt greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the thyroid gland, occurring in a specific population in a given time period MPheno.ontology MP:0003496 increased thyroid adenoma incidence MP:0003496 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the thyroid gland, occurring in a specific population in a given time period NCBI:matt no changes in calcium homeostasis in response to endogenous or exogenous hormone MPheno.ontology MP:0003497 insensitivity to parathyroid hormone MP:0003497 no changes in calcium homeostasis in response to endogenous or exogenous hormone NCBI:matt increase in the number of normal cells in normal arrangement in the thyroid gland, typically resulting in increased size hyperplastic thyroid MPheno.ontology thyroid hyperplasia MP:0003498 thyroid gland hyperplasia MP:0003498 increase in the number of normal cells in normal arrangement in the thyroid gland, typically resulting in increased size ISBN:0-683-40008-8 NCBI:matt https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the thyroid gland, typically resulting in decreased size hypoplastic thyroid gland thyroid hypoplasia MPheno.ontology MP:0003499 thyroid gland hypoplasia MP:0003499 decrease in the number of normal cells in normal arrangement in the thyroid gland, typically resulting in decreased size ISBN:0-683-40008-8 NCBI:matt https://orcid.org/0000-0003-3691-0324 thyroid hypoplasia https://orcid.org/0000-0002-6490-7723 true MP:0003500 thyroid defect in oxidation and organification of iodide MPheno.ontology MP:0003501 iodide oxidation defect MP:0003501 thyroid defect in oxidation and organification of iodide NCBI:matt increased function of this endocrine gland that normally produces hormones that regulate the metabolic rate of the body hyperthyroidism increased activity of thyroid MPheno.ontology MP:0003502 increased activity of thyroid gland MP:0003502 increased function of this endocrine gland that normally produces hormones that regulate the metabolic rate of the body NCBI:matt reduced function of this endocrine gland that normally produces hormones that regulate the metabolic rate of the body decreased activity of thyroid hypothyroidism reduced activity of thyroid MPheno.ontology MP:0003503 decreased activity of thyroid gland MP:0003503 reduced function of this endocrine gland that normally produces hormones that regulate the metabolic rate of the body NCBI:matt local accumulation of fluid, plasma proteins, and leukocytes in the thyroid gland thyroid inflammation thyroiditis MPheno.ontology MP:0003504 thyroid gland inflammation MP:0003504 local accumulation of fluid, plasma proteins, and leukocytes in the thyroid gland NCBI:matt thyroid inflammation https://orcid.org/0000-0002-6490-7723 greater than the expected number of a pituitary adenoma characterized by secretion of prolactin, occurring in a specific population in a given time period MPheno.ontology MP:0003505 increased prolactinoma incidence MP:0003505 greater than the expected number of a pituitary adenoma characterized by secretion of prolactin, occurring in a specific population in a given time period MESH:C04.557.470.035.625 NCBI:matt https://orcid.org/0000-0003-3691-0324 excessive secretion of growth hormone resulting in progressive enlargement of the face, hands, feet, head, and thorax; organomegaly and impaired glucose homeostasis may ensue increased growth hormone secretion MPheno.ontology MP:0003506 acromegaly MP:0003506 excessive secretion of growth hormone resulting in progressive enlargement of the face, hands, feet, head, and thorax; organomegaly and impaired glucose homeostasis may ensue ISBN:0-683-40008-8 MESH:C05.116.132.082 NCBI:matt any functional anomaly of the ovarian follicle for the production of female germ cells or the endocrine cells for the production of estrogen and progesterone abnormal ovarian physiology MPheno.ontology MP:0003507 abnormal ovary physiology MP:0003507 any functional anomaly of the ovarian follicle for the production of female germ cells or the endocrine cells for the production of estrogen and progesterone MESH:A05.360.319.114.630 NCBI:matt aberration in the blood concentration of a potent androgenic metabolite of testosterone abnormal circulating level of stanolone MPheno.ontology abnormal circulating levels of dihydrotestosterone MP:0003508 abnormal circulating dihydrotestosterone level MP:0003508 aberration in the blood concentration of a potent androgenic metabolite of testosterone MESH:D04.808.054.040.248 NCBI:matt greater than normal blood concentration of this potent androgenic metabolite of testosterone increased circulating levels of dihydrotestosterone MPheno.ontology MP:0003509 increased circulating dihydrotestosterone level MP:0003509 greater than normal blood concentration of this potent androgenic metabolite of testosterone MESH:D04.808.054.040.248 NCBI:matt reduction in the blood concentration of a potent androgenic metabolite of testosterone decreased circulating levels of dihydrotestosterone reduced circulating levels of dihydrotestosterone MPheno.ontology MP:0003510 decreased circulating dihydrotestosterone level MP:0003510 reduction in the blood concentration of a potent androgenic metabolite of testosterone MESH:D04.808.054.040.248 NCBI:matt any structural anomaly of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening MPheno.ontology MP:0003511 abnormal labium morphology MP:0003511 any structural anomaly of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening NCBI:matt increased size of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening increased labia size MPheno.ontology MP:0003512 enlarged labia MP:0003512 increased size of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening NCBI:matt decreased size of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening decreased labia size reduced labia size MPheno.ontology MP:0003513 small labia MP:0003513 decreased size of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening NCBI:matt the presence of grooves or furrows in the folds of skin which lips on both sides of the vaginal opening MPheno.ontology MP:0003514 interlabial sulcus MP:0003514 the presence of grooves or furrows in the folds of skin which lips on both sides of the vaginal opening ISBN:0-683-40008-8 NCBI:matt any structural anomaly of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening MPheno.ontology MP:0003515 abnormal labia majora morphology MP:0003515 any structural anomaly of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening NCBI:matt absence of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening MPheno.ontology MP:0003516 absent labia majora MP:0003516 absence of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening NCBI:matt increased size of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening increased labia majora size MPheno.ontology MP:0003517 enlarged labia majora MP:0003517 increased size of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening NCBI:matt reduced size of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening decreased labia majora size reduced labia majora size MPheno.ontology MP:0003518 small labia majora MP:0003518 reduced size of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening NCBI:matt flattened or spread out appearance of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening MPheno.ontology MP:0003519 splayed labia majora MP:0003519 flattened or spread out appearance of the folds of skin which form the outer lips (labia majora) on both sides of the vaginal opening NCBI:matt any structural anomaly of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening MPheno.ontology MP:0003520 abnormal labia minora morphology MP:0003520 any structural anomaly of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening NCBI:matt absence of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening MPheno.ontology MP:0003521 absent labia minora MP:0003521 absence of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening NCBI:matt increased size of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening increased labia minora size MPheno.ontology MP:0003522 enlarged labia minora MP:0003522 increased size of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening NCBI:matt reduced size of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening decreased labia minora size reduced labia minora size MPheno.ontology MP:0003523 small labia minora MP:0003523 reduced size of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening NCBI:matt flattened or spread out appearance of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening MPheno.ontology MP:0003524 splayed labia minora MP:0003524 flattened or spread out appearance of the folds of skin which form the inner lips (labia minora) on both sides of the vaginal opening NCBI:matt benign epithelial growths of the external genitalia of the female external female genitalia warts vulval warts MPheno.ontology MP:0003525 vulva warts MP:0003525 benign epithelial growths of the external genitalia of the female NCBI:matt presence of one or more abnormal membranous sacs in the vulva cystic external female genitalia cystic vulva vulva cysts vulval cyst vulval cysts MPheno.ontology MP:0003526 vulva cyst MP:0003526 presence of one or more abnormal membranous sacs in the vulva NCBI:matt decreased size of the external genitalia of the female decreased vulva size reduced vulva size small external female genitalia MPheno.ontology MP:0003527 small vulva MP:0003527 decreased size of the external genitalia of the female ISBN:0-683-40008-8 NCBI:matt increased size of the external genitalia of the female enlarged external female genitalia increased vulva size MPheno.ontology MP:0003528 enlarged vulva MP:0003528 increased size of the external genitalia of the female ISBN:0-683-40008-8 NCBI:matt increased size of the small, erectile body located at the anterior end of the vulva clitorimegaly increased clitoris size MPheno.ontology MP:0003529 enlarged clitoris MP:0003529 increased size of the small, erectile body located at the anterior end of the vulva ISBN:0-683-40008-8 NCBI:matt reduced size of the small, erectile body located at the anterior end of the vulva decreased clitoris size MPheno.ontology MP:0003530 small clitoris MP:0003530 reduced size of the small, erectile body located at the anterior end of the vulva ISBN:0-683-40008-8 NCBI:matt abnormal morphogenesis of the female reproductive canal located between the uterus and the vulva abnormal vaginal development MPheno.ontology MP:0003531 abnormal vagina development MP:0003531 abnormal morphogenesis of the female reproductive canal located between the uterus and the vulva NCBI:matt true MP:0003532 cleft of the female reproductive canal located between the uterus and the vulva into two parts or branches double vagina intact vaginal septum MPheno.ontology MP:0003533 bifid vagina MP:0003533 cleft of the female reproductive canal located between the uterus and the vulva into two parts or branches ISBN:0-683-40008-8 NCBI:matt presence the female reproductive canal that ends in a sac and does not connect to internal genitalia MPheno.ontology MP:0003534 blind vagina MP:0003534 presence the female reproductive canal that ends in a sac and does not connect to internal genitalia NCBI:matt https://orcid.org/0000-0003-3691-0324 absence of the female reproductive canal located between the uterus and the vulva MPheno.ontology MP:0003535 absent vagina MP:0003535 absence of the female reproductive canal located between the uterus and the vulva NCBI:matt lack of the normal presence or reduced presence of secretions in the vagina vaginal dryness MPheno.ontology MP:0003536 vagina dryness MP:0003536 lack of the normal presence or reduced presence of secretions in the vagina NCBI:matt collection of fluid in the vagina; often due to a congenital obstruction hydrometrocolops MPheno.ontology MP:0003537 hydrometrocolpos MP:0003537 collection of fluid in the vagina; often due to a congenital obstruction NCBI:matt anomaly in the morphogenesis of the thin membrane which may partially occlude the opening of the vagina; often absent in normal females MPheno.ontology MP:0003538 abnormal hymen development MP:0003538 anomaly in the morphogenesis of the thin membrane which may partially occlude the opening of the vagina; often absent in normal females ISBN:0-683-40008-8 NCBI:matt absence of the thin membrane which may partially occlude the opening of the vagina MPheno.ontology MP:0003539 absent hymen MP:0003539 absence of the thin membrane which may partially occlude the opening of the vagina ISBN:0-683-40008-8 NCBI:matt absence of the normal opening of the thin membrane which may partially occlude the opening of the vagina; here the opening is completely occluded MPheno.ontology MP:0003540 imperforate hymen MP:0003540 absence of the normal opening of the thin membrane which may partially occlude the opening of the vagina; here the opening is completely occluded ISBN:0-683-40008-8 NCBI:matt local accumulation of fluid, plasma proteins, and leukocytes in the vagina vaginitis MPheno.ontology MP:0003541 vaginal inflammation MP:0003541 local accumulation of fluid, plasma proteins, and leukocytes in the vagina NCBI:matt anomaly in the differentiation of the cells that line the vasculature MPheno.ontology MP:0003542 abnormal vascular endothelial cell development MP:0003542 anomaly in the differentiation of the cells that line the vasculature https://orcid.org/0000-0003-4606-0597 anomaly in the process whereby a relatively unspecialized cell acquires specialized features of an endothelial cell MPheno.ontology MP:0003543 abnormal vascular endothelial cell differentiation MP:0003543 anomaly in the process whereby a relatively unspecialized cell acquires specialized features of an endothelial cell https://orcid.org/0000-0003-4606-0597 anomaly in the movement of endothelial cell or their precursors to the appropriate location in the body MPheno.ontology MP:0003544 abnormal vascular endothelial cell migration MP:0003544 anomaly in the movement of endothelial cell or their precursors to the appropriate location in the body https://orcid.org/0000-0003-4606-0597 greater than normal consumption of alcohol MPheno.ontology MP:0003545 increased alcohol consumption MP:0003545 greater than normal consumption of alcohol RGD:cur less than normal consumption of alcohol reduced alcohol consumption MPheno.ontology MP:0003546 decreased alcohol consumption MP:0003546 less than normal consumption of alcohol RGD:cur altered tension of the blood within the pulmonary arteries MPheno.ontology MP:0003547 abnormal pulmonary pressure MP:0003547 altered tension of the blood within the pulmonary arteries https://orcid.org/0000-0002-6490-7723 sustained high pulmonary pressure at a level that is likely to result in disease and/or other pathological states MPheno.ontology MP:0003548 pulmonary hypertension MP:0003548 sustained high pulmonary pressure at a level that is likely to result in disease and/or other pathological states https://orcid.org/0000-0002-6490-7723 sustained low pulmonary pressure at a level that is likely to result in disease and/or other pathological states MPheno.ontology MP:0003549 pulmonary hypotension MP:0003549 sustained low pulmonary pressure at a level that is likely to result in disease and/or other pathological states https://orcid.org/0000-0002-6490-7723 reduced length of the area between the genital organs and the anus that lies beneath the pelvic diaphragm decreased perineum length MPheno.ontology MP:0003550 short perineum MP:0003550 reduced length of the area between the genital organs and the anus that lies beneath the pelvic diaphragm NCBI:matt opening in the perineum leading to a blind-ending sac MPheno.ontology MP:0003551 blind perineal pouch MP:0003551 opening in the perineum leading to a blind-ending sac NCBI:matt presence of one or more benign epithelial growths in the vagina cystic vagina vagina cysts vaginal cyst vaginal cysts MPheno.ontology MP:0003552 vagina cyst MP:0003552 presence of one or more benign epithelial growths in the vagina NCBI:matt any structural anomaly of the loose fold of skin that covers the penis abnormal prepuce morphology MPheno.ontology MP:0003553 abnormal foreskin morphology MP:0003553 any structural anomaly of the loose fold of skin that covers the penis NCBI:matt inability of the penis to protrude from the prepuce/foreskin; may be due to a narrow opening of the foreskin resulting in the inability to retract the distal foreskin over the glans penis MPheno.ontology MP:0003554 phimosis MP:0003554 inability of the penis to protrude from the prepuce/foreskin; may be due to a narrow opening of the foreskin resulting in the inability to retract the distal foreskin over the glans penis MGI:mberry NCBI:matt acute angulation of the penis upon erection; often painful and due to disease or congenital malformation MPheno.ontology MP:0003555 chordee MP:0003555 acute angulation of the penis upon erection; often painful and due to disease or congenital malformation ISBN:0-683-40008-8 NCBI:matt true MP:0003556 absence of the secretory duct of the testicle that carries spermatozoa, running from the epididymis, of which it is the continuation, to the prostatic urethra where it terminates to form ejaculatory duct MP:0003556 absent ductus deferens agenesis of vas deferens ductus deferens aplasia vas deferens aplasia MPheno.ontology MP:0003557 absent vas deferens MP:0003557 absence of the secretory duct of the testicle that carries spermatozoa, running from the epididymis, of which it is the continuation, to the prostatic urethra where it terminates to form ejaculatory duct ISBN:0-683-40008-8 NCBI:matt absence of the female muscular organ of gestation absence of metra absence of uterus absent metra MPheno.ontology MP:0003558 absent uterus MP:0003558 absence of the female muscular organ of gestation NCBI:matt cleft of the female muscular organ of gestation into two parts or branches, often having the appearance of two lobes bifid metra MPheno.ontology MP:0003559 bifid uterus MP:0003559 cleft of the female muscular organ of gestation into two parts or branches, often having the appearance of two lobes NCBI:matt a type of arthritis that results in the breakdown and eventual loss of the articular cartilage of one or more joints degenerative arthritis osteoarthrosis MPheno.ontology MP:0003560 osteoarthritis MP:0003560 a type of arthritis that results in the breakdown and eventual loss of the articular cartilage of one or more joints J:95374 https://orcid.org/0000-0003-4606-0597 an autoimmune response that primarily affects connective tissue; it also results in chronic inflammation of the joints, especially of the hands and feet and may also cause inflammation of the tissue around the joints, as well as other organs in the body osteoarthrosis deformans MPheno.ontology MP:0003561 rheumatoid arthritis MP:0003561 an autoimmune response that primarily affects connective tissue; it also results in chronic inflammation of the joints, especially of the hands and feet and may also cause inflammation of the tissue around the joints, as well as other organs in the body ISBN:0-683-40008-8 anomaly in the function of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas abnormal insulin-secreting cell physiology abnormal pancreatic B cell physiology MPheno.ontology MP:0003562 abnormal pancreatic beta cell physiology MP:0003562 anomaly in the function of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas CL:0000169 anomaly in the function of the glucagon-producing cells of the islets of Langerhans in the pancreas abnormal glucagon secreting cell physiology abnormal pancreatic A cell physiology MPheno.ontology MP:0003563 abnormal pancreatic alpha cell physiology MP:0003563 anomaly in the function of the glucagon-producing cells of the islets of Langerhans in the pancreas https://orcid.org/0000-0003-4606-0597 anomaly in the production or release of the hormone secreted by beta cells of the pancreas that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids MPheno.ontology MP:0003564 abnormal insulin secretion MP:0003564 anomaly in the production or release of the hormone secreted by beta cells of the pancreas that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids MESH:D06.472.699.587.740.625 https://orcid.org/0000-0003-4606-0597 anomaly in the production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes MPheno.ontology MP:0003565 abnormal glucagon secretion MP:0003565 anomaly in the production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes MESH:D06.472.699.587.469.500 https://orcid.org/0000-0003-4606-0597 altered ability of a cell to adhere to another cell or to a non-cellular component of the environment MPheno.ontology MP:0003566 abnormal cell adhesion MP:0003566 altered ability of a cell to adhere to another cell or to a non-cellular component of the environment https://orcid.org/0009-0005-7755-8314 anomaly in the ability of the differentiating cardiac muscle cell population to undergo expansion by cell division abnormal cardiomyoblast proliferation abnormal foetal cardiomyocyte proliferation MPheno.ontology MP:0003567 abnormal fetal cardiomyocyte proliferation MP:0003567 anomaly in the ability of the differentiating cardiac muscle cell population to undergo expansion by cell division https://orcid.org/0000-0003-4606-0597 congenital absence of the normal opening or lumen of the uterus metra atresia metral atresia uterine atresia MPheno.ontology MP:0003568 uterus atresia MP:0003568 congenital absence of the normal opening or lumen of the uterus ISBN:0-683-40008-8 NCBI:matt greater than the expected number of a benign tumor derived from smooth (nonstriated) muscle, occurring in a specific population in a given time period increased fibroid tumor incidence increased fibroid tumour incidence increased fibromyoma incidence MPheno.ontology MP:0003569 increased leiomyoma incidence MP:0003569 greater than the expected number of a benign tumor derived from smooth (nonstriated) muscle, occurring in a specific population in a given time period ISBN:0-683-40008-8 NCBI:matt greater than the expected number of a benign tumor derived from smooth (nonstriated) muscle of the uterus, occurring in a specific population in a given time period increased fibroid uterus incidence increased uterine fibroid incidence increased uterine fibroma incidence increased uterine fibromyoma incidence increased uterine leiomyoma incidence MPheno.ontology MP:0003570 increased uterus leiomyoma incidence MP:0003570 greater than the expected number of a benign tumor derived from smooth (nonstriated) muscle of the uterus, occurring in a specific population in a given time period MESH:C04.557.450.590.450 NCBI:matt tearing of the uterine tissue; may be due to trauma or pregnancy complications metra rupture metral rupture rupture of uterus MPheno.ontology uterine rupture MP:0003571 uterus rupture MP:0003571 tearing of the uterine tissue; may be due to trauma or pregnancy complications MESH:C23.300.909 NCBI:matt abnormal morphogenesis of the female muscular organ of gestation abnormal metra development MPheno.ontology MP:0003572 abnormal uterus development MP:0003572 abnormal morphogenesis of the female muscular organ of gestation NCBI:matt true MP:0003573 any structural anomaly of the tube through which the ova pass from the ovary to the uterus abnormal fallopian tube morphology abnormal salpinges morphology abnormal salpinx morphology abnormal salpinx uterina morphology abnormal tuba fallopiana morphology abnormal tuba fallopii morphology abnormal tuba uterina morphology abnormal uterine tube morphology fallopian tube dysplasia oviduct dysplasia MPheno.ontology MP:0003574 abnormal oviduct morphology MP:0003574 any structural anomaly of the tube through which the ova pass from the ovary to the uterus https://orcid.org/0000-0003-4606-0597 absence of the tube through which the ova pass from the ovary to the uterus absent fallopian tubes absent salpinges absent salpinx absent salpinx uterina absent tuba fallopiana absent tuba fallopii absent tuba uterina absent uterine tube agenesis of fallopian tubes aplasia of fallopian tubes oviduct agenesis oviduct aplasia MPheno.ontology MP:0003575 absent oviduct MP:0003575 absence of the tube through which the ova pass from the ovary to the uterus https://orcid.org/0000-0003-4606-0597 decrease in the number of normal cells in normal arrangement in the oviduct, typically resulting in decreased size MP:0003577 fallopian tube hypoplasia hypoplastic oviduct rudimentary fallopian tubes rudimentary oviduct rudimentary salpinges rudimentary salpinx rudimentary salpinx uterina rudimentary tuba fallopiana rudimentary tuba fallopii rudimentary tuba uterina rudimentary uterine tube salpinges hypoplasia salpinx hypoplasia salpinx uterina hypoplasia tuba fallopiana hypoplasia tuba fallopii hypoplasia tuba uterina hypoplasia uterine tube hypoplasia MPheno.ontology MP:0003576 oviduct hypoplasia MP:0003576 decrease in the number of normal cells in normal arrangement in the oviduct, typically resulting in decreased size https://orcid.org/0000-0003-4606-0597 true MP:0003577 absence of the female reproductive gland containing the germ cells bilateral ovarian agenesis bilateral ovarian aplasia female agonadism MPheno.ontology MP:0003578 absent ovary MP:0003578 absence of the female reproductive gland containing the germ cells NCBI:matt greater than the expected number of a malignant neoplasm arising from ovarian tissue, occurring in a specific population in a given time period MPheno.ontology ovarian carcinoma MP:0003579 increased ovarian carcinoma incidence MP:0003579 greater than the expected number of a malignant neoplasm arising from ovarian tissue, occurring in a specific population in a given time period NCBI:matt greater than the expected number of a benign tumor of fibrous or fully developed connective tissue, in a specific population in a given time period MP:0003297 MPheno.ontology fibromatosis MP:0003580 increased fibroma incidence MP:0003580 greater than the expected number of a benign tumor of fibrous or fully developed connective tissue, in a specific population in a given time period MESH:C04.557.450.565.590.340 greater than the expected number of a benign tumor of fibrous or fully developed connective tissue in the ovary, in a specific population in a given time period MPheno.ontology MP:0003581 increased ovarian fibroma incidence MP:0003581 greater than the expected number of a benign tumor of fibrous or fully developed connective tissue in the ovary, in a specific population in a given time period MESH:C04.557.450.565.590.340 NCBI:matt https://orcid.org/0000-0003-3691-0324 abnormal morphogenesis of the ovarian follicle for the production of female germ cells or the endocrine cells for the production of estrogen and progesterone MPheno.ontology MP:0003582 abnormal ovary development MP:0003582 abnormal morphogenesis of the ovarian follicle for the production of female germ cells or the endocrine cells for the production of estrogen and progesterone MESH:A05.360.319.114.630 true MP:0003583 two ureters join before draining into the urinary bladder; a duplex kidney with a bifid renal pelvis or bifid ureter ensues when a single ureteral bud bifurcates before the ampulla bifurcates partial ureter duplication MPheno.ontology MP:0003584 bifid ureter MP:0003584 two ureters join before draining into the urinary bladder; a duplex kidney with a bifid renal pelvis or bifid ureter ensues when a single ureteral bud bifurcates before the ampulla bifurcates https://orcid.org/0000-0002-6490-7723 increased size or length of the tube that conducts the urine from the renal pelvis to the bladder megaureter MPheno.ontology MP:0003585 large ureter MP:0003585 increased size or length of the tube that conducts the urine from the renal pelvis to the bladder ISBN:0-683-40008-8 NCBI:matt abnormal distention of one or both ureters due to accumulation of fluid dilated ureters ureter dilation MPheno.ontology MP:0003586 dilated ureter MP:0003586 abnormal distention of one or both ureters due to accumulation of fluid NCBI:matt a partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic Fyler:4492 obstructive uropathy ureteral obstruction ureteral stasis ureteric obstruction MPheno.ontology MP:0003587 ureter obstruction MP:0003587 a partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic https://orcid.org/0000-0002-6490-7723 abnormal narrowing or constriction of the ureter MPheno.ontology MP:0003588 ureter stenosis MP:0003588 abnormal narrowing or constriction of the ureter NCBI:matt any functional anomaly of the tube that conducts the urine from the renal pelvis to the bladder MPheno.ontology MP:0003589 abnormal ureter physiology MP:0003589 any functional anomaly of the tube that conducts the urine from the renal pelvis to the bladder NCBI:matt OBSOLETE retrograde movement of urine from the bladder to the kidney MP:0001948 MPheno.ontology MP:0003590 OBSOLETE ureteral reflux true MP:0003590 OBSOLETE retrograde movement of urine from the bladder to the kidney NCBI:matt closure, or failure to develop a connection in the canal that leads from the bladder and discharges urine externally MPheno.ontology MP:0003591 urethra atresia MP:0003591 closure, or failure to develop a connection in the canal that leads from the bladder and discharges urine externally NCBI:matt abnormal narrowing or constriction at one or more points in the urethra urethra stenosis urethral constriction urethral stricture MPheno.ontology MP:0003592 Urethral stricture is almost invariably restricted to males and often secondary to injury, inflammation, tumors or any other cause of scarring; whether congenital or acquired, urethral strictures may compromise voiding and cause incontinence, bleeding, stones or even renal failure. urethra stricture MP:0003592 abnormal narrowing or constriction at one or more points in the urethra https://orcid.org/0000-0002-6490-7723 an abnormal anatomical passage connecting the urethra and the vagina urethro-vaginal fistula MPheno.ontology MP:0003593 urethrovaginal fistula MP:0003593 an abnormal anatomical passage connecting the urethra and the vagina MESH:C23.300.575 NCBI:matt decreased size or length of the canal that leads from the bladder and discharges urine externally MPheno.ontology MP:0003594 small urethra MP:0003594 decreased size or length of the canal that leads from the bladder and discharges urine externally NCBI:matt presence of one or more benign growths in the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens cystic epididymis epididymal cysts epididymis cyst epididymis cysts MPheno.ontology MP:0003595 epididymal cyst MP:0003595 presence of one or more benign growths in the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens NCBI:matt local accumulation of fluid, plasma proteins, and leukocytes in the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens epididymal inflammation epididymitis inflamed epididymides inflamed epididymis inflammation of the epididymides MPheno.ontology MP:0003596 epididymis inflammation MP:0003596 local accumulation of fluid, plasma proteins, and leukocytes in the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens NCBI:matt epididymal inflammation https://orcid.org/0000-0002-6490-7723 greater than the expected number of a benign epithelial neoplasm with a glandular organization and a cyst-like appearance arising from epididymal tissue, occurring in a specific population in a given time period increased epididymal cystoma incidence MPheno.ontology MP:0003597 increased epididymal cystadenoma incidence MP:0003597 greater than the expected number of a benign epithelial neoplasm with a glandular organization and a cyst-like appearance arising from epididymal tissue, occurring in a specific population in a given time period ISBN:0-683-40008-8 NCBI:matt https://orcid.org/0000-0003-3691-0324 congenital absence of the upper wall of the urethra, occurring in both sexes, but more often in the male, with the urethral opening somewhere on the dorsum of the penis at any point below the internal sphincter; in females, the malformed urethral opening is often located aberrantly epispadias hyperspadia hyperspadias MPheno.ontology MP:0003598 epispadia MP:0003598 congenital absence of the upper wall of the urethra, occurring in both sexes, but more often in the male, with the urethral opening somewhere on the dorsum of the penis at any point below the internal sphincter; in females, the malformed urethral opening is often located aberrantly https://orcid.org/0000-0002-6490-7723 enlarged size of the organ of copulation and urination in the male increased penis size macropenis macrophallus MPheno.ontology MP:0003599 large penis MP:0003599 enlarged size of the organ of copulation and urination in the male ISBN:0-683-40008-8 NCBI:matt a kidney located outside of its normal position usually due to failed migration of the ureteral bud and developing metanephric blastema to the renal fossa; the most common example of renal ectopia is a pelvic kidney; other sites of ectopic kidneys include the iliac region, the abdomen, the chest, and, in some cases, the contralateral side, referred to as crossed renal ectopia MPheno.ontology MP:0003600 ectopic kidney MP:0003600 a kidney located outside of its normal position usually due to failed migration of the ureteral bud and developing metanephric blastema to the renal fossa; the most common example of renal ectopia is a pelvic kidney; other sites of ectopic kidneys include the iliac region, the abdomen, the chest, and, in some cases, the contralateral side, referred to as crossed https://orcid.org/0000-0002-6490-7723 cleft of the kidney into two parts or branches, often having the appearance of two lobes MPheno.ontology MP:0003601 bifid kidney MP:0003601 cleft of the kidney into two parts or branches, often having the appearance of two lobes NCBI:matt greater than the expected number of a benign formation of a mass of tissue of disproportionate size and distribution in the kidney, occurring in a specific population in a given time period; hamartomas are typically composed of an overgrowth of mature cells and tissues that normally occur in this tissue MPheno.ontology renal hamartoma MP:0003602 increased renal hamartoma incidence MP:0003602 greater than the expected number of a benign formation of a mass of tissue of disproportionate size and distribution in the kidney, occurring in a specific population in a given time period; hamartomas are typically composed of an overgrowth of mature cells and tissues that normally occur in this tissue NCBI:matt greater than the expected number of a benign cyst-like tumor of the kidney that is composed of multiple capillary and sinusoidal channels lined with endothelial cells, occurring in a specific population in a given time period MPheno.ontology increased renal haemangioblastoma incidence renal haemangioblastoma renal hemangioblastoma MP:0003603 increased renal hemangioblastoma incidence MP:0003603 greater than the expected number of a benign cyst-like tumor of the kidney that is composed of multiple capillary and sinusoidal channels lined with endothelial cells, occurring in a specific population in a given time period NCBI:matt presence of only one of the paired organs responsible for urine secretion Fyler:4509 unilateral kidney agenesis unilateral renal agenesis MPheno.ontology MP:0003604 single kidney MP:0003604 presence of only one of the paired organs responsible for urine secretion NCBI:matt a defect in which there is a single malformed organ resulting from partial or complete fusion of the two renal anlage Fyler:4507 fusion of kidneys kidney fusion cake kidney disc kidney disk kidney horseshoe kidney MPheno.ontology MP:0003605 fused kidneys MP:0003605 a defect in which there is a single malformed organ resulting from partial or complete fusion of the two renal anlage ISBN:0-683-40008-8 NCBI:matt https://orcid.org/0000-0003-3691-0324 failure of the kidneys to adequately filter toxins and waste products from the blood; classified as acute (as in acute kidney injury) or chronic (as in chronic kidney disease); a number of other diseases or health problems may cause either form of renal failure to occur renal insufficiency renal failure MPheno.ontology MP:0003606 kidney failure MP:0003606 failure of the kidneys to adequately filter toxins and waste products from the blood; classified as acute (as in acute kidney injury) or chronic (as in chronic kidney disease); a number of other diseases or health problems may cause either form of renal failure to occur NCBI:matt any functional anomaly of the gland in males that secretes part of the seminiferous fluid MPheno.ontology MP:0003607 abnormal prostate gland physiology MP:0003607 any functional anomaly of the gland in males that secretes part of the seminiferous fluid ISBN:0-683-40008-8 local accumulation of fluid, plasma proteins, and leukocytes in the prostate prostate inflammation prostatitis MPheno.ontology MP:0003608 prostate gland inflammation MP:0003608 local accumulation of fluid, plasma proteins, and leukocytes in the prostate MGI:cwg reduced size of the external sac of skin that encloses the testes decreased scrotum size MPheno.ontology MP:0003609 small scrotum MP:0003609 reduced size of the external sac of skin that encloses the testes ISBN:0-683-40008-8 NCBI:matt increase in the number of normal cells in normal arrangement in the external sac of skin that encloses the testes, typically resulting in increased size hyperplastic scrotum MPheno.ontology MP:0003610 scrotum hyperplasia MP:0003610 increase in the number of normal cells in normal arrangement in the external sac of skin that encloses the testes, typically resulting in increased size NCBI:matt decrease in the number of normal cells in normal arrangement in the scrotum, typically resulting in decreased size hypoplastic scrotum scrotal hypoplasia MPheno.ontology MP:0003611 scrotum hypoplasia MP:0003611 decrease in the number of normal cells in normal arrangement in the scrotum, typically resulting in decreased size NCBI:matt cleft of the scrotum into two parts or branches, often having the appearance of two lobes MPheno.ontology MP:0003612 bifid scrotum MP:0003612 cleft of the scrotum into two parts or branches, often having the appearance of two lobes NCBI:matt anomaly in the differentiation of the inner portion of the kidney consisting of the renal pyramids abnormal renal medulla development MPheno.ontology MP:0003613 abnormal kidney medulla development MP:0003613 anomaly in the differentiation of the inner portion of the kidney consisting of the renal pyramids ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 hernial protrusion of the urinary bladder, usually through the vaginal wall cystocele cystocoele fallen bladder prolapsed bladder vesical hernia MPheno.ontology MP:0003614 urinary bladder prolapse MP:0003614 hernial protrusion of the urinary bladder, usually through the vaginal wall NCBI:matt https://orcid.org/0000-0002-6490-7723 a pouch or sac protruding from the urinary bladder wall bladder diverticulum MPheno.ontology MP:0003615 urinary bladder diverticulum MP:0003615 a pouch or sac protruding from the urinary bladder wall NCBI:matt any structural anomaly of the fibrous remnant of the allantoic stalk, a narrow fetal canal connecting the apex of the urinary bladder with the umbilicus located in the space of Retzius, between the transversalis fascia anteriorly and the peritoneum posteriorly. its lumen is normally obliterated during development, transforming the urachus into a solid cord, a functionless remnant that persists throughout life as the median umbilical ligament; failure of complete lumen obliteration may result in distinct congenital urachal remnant anomalies MPheno.ontology MP:0003616 abnormal urachus morphology MP:0003616 any structural anomaly of the fibrous remnant of the allantoic stalk, a narrow fetal canal connecting the apex of the urinary bladder with the umbilicus located in the space of Retzius, between the transversalis fascia anteriorly and the peritoneum posteriorly. its lumen is normally obliterated during development, transforming the urachus into a solid cord, a functionless remnant that persists throughout life as the median umbilical ligament; failure of complete lumen obliteration may result in distinct congenital urachal remnant anomalies https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the urinary bladder, typically resulting in decreased size cystis urinaria hypoplasia hypoplastic urinary bladder urocyst hypoplasia urocystis hypoplasia vesica hypoplasia vesica urinaria hypoplasia MPheno.ontology MP:0003617 urinary bladder hypoplasia MP:0003617 decrease in the number of normal cells in normal arrangement in the urinary bladder, typically resulting in decreased size NCBI:matt narrowing of the cervical opening cervical atresia cervix atresia canalis cervicis uteri atresia caudal segment of uterus atresia cervical canal atresia cervical canal of uterus atresia cervix uteri atresia neck of uterus atresia MPheno.ontology MP:0003618 uterine cervical atresia MP:0003618 narrowing of the cervical opening NCBI:matt any alteration from the usual straw-coloration of the urine abnormal urine colour MPheno.ontology MP:0003619 abnormal urine color MP:0003619 any alteration from the usual straw-coloration of the urine NCBI:matt a reduction in the volume of urine produced and excreted; however, some urine is still produced low urine output oliguresis MPheno.ontology MP:0003620 oliguria MP:0003620 a reduction in the volume of urine produced and excreted; however, some urine is still produced NCBI:matt difficult or painful urination MPheno.ontology MP:0003621 dysuria MP:0003621 difficult or painful urination NCBI:matt upon urination, some urine is retained in the bladder instead of being excreted incomplete emptying of bladder urinary retention MPheno.ontology MP:0003622 ischuria MP:0003622 upon urination, some urine is retained in the bladder instead of being excreted NCBI:matt accumulation of fluid around testes hydrocele testis MPheno.ontology MP:0003623 hydrocele MP:0003623 accumulation of fluid around testes NCBI:matt inability to form or excrete urine MP:0002755 failure to urinate inability to micturate inability to urinate MPheno.ontology MP:0003624 anuria MP:0003624 inability to form or excrete urine NCBI:matt increase in the number of normal cells in normal arrangement in the kidney medulla, typically resulting in increased size hyperplastic renal medulla MPheno.ontology MP:0003625 kidney medulla hyperplasia MP:0003625 increase in the number of normal cells in normal arrangement in the kidney medulla, typically resulting in increased size ISBN:0-683-40008-8 NCBI:matt decrease in the number of normal cells in normal arrangement in the kidney medulla, typically resulting in decreased size hypoplastic kidney medulla MPheno.ontology MP:0003626 kidney medulla hypoplasia MP:0003626 decrease in the number of normal cells in normal arrangement in the kidney medulla, typically resulting in decreased size ISBN:0-683-40008-8 NCBI:matt anomaly in the transient adhesive interactions between leukocytes and endothelial cells lining blood vessels mediated primarily by selectins and which are typically the first step in cellular extravasation abnormal leucocyte tethering abnormal leucocyte tethering or rolling abnormal leukocyte tethering abnormal lymphocyte rolling MPheno.ontology MP:0003627 abnormal leukocyte tethering or rolling MP:0003627 anomaly in the transient adhesive interactions between leukocytes and endothelial cells lining blood vessels mediated primarily by selectins and which are typically the first step in cellular extravasation GO:0050901 https://orcid.org/0000-0003-4606-0597 anomaly in the number of or process by which leukocytes adhere to the luminal aspects of high endothelial venules prior to transmigration out of the vessel abnormal leucocyte adhesion abnormal lymphocyte firm adhesion abnormal lymphocyte adhesion MPheno.ontology MP:0003628 abnormal leukocyte adhesion MP:0003628 anomaly in the number of or process by which leukocytes adhere to the luminal aspects of high endothelial venules prior to transmigration out of the vessel https://orcid.org/0000-0003-4606-0597 true MP:0003629 any structural anomaly of the epithelial lining of the lumen of the organs of the urinary tract MPheno.ontology MP:0003630 abnormal urothelium morphology MP:0003630 any structural anomaly of the epithelial lining of the lumen of the organs of the urinary tract https://orcid.org/0000-0003-3691-0324 the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan MP:0005368 MP:0005383 CNS phenotype PNS phenotype central nervous system phenotype peripheral nervous system phenotype MPheno.ontology MP:0003631 nervous system phenotype MP:0003631 the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan https://orcid.org/0000-0003-3691-0324 any structural anomaly of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that receive and interpret stimuli and transmit impulses to effector organs to control body functions MP:0000769 MP:0000957 MP:0002153 MP:0002157 MP:0002170 MP:0002171 Fyler:4135 Fyler:4300 GO:0007417 MGI:2173613 MGI:2173617 abnormal central nervous system morphology abnormal peripheral nervous system abnormal peripheral nervous system morphology central nervous system abnormalities central nervous system anomaly central nervous system defects central nervous system: other dysmorphology nervous system dysplasia neurologic malformation other abnormal central nervous system morphology peripheral nervous system abnormalities peripheral nervous system abnormality peripheral nervous system anomaly peripheral nervous system defects peripheral nervous system: dysmorphology MPheno.ontology MP:0003632 abnormal nervous system morphology MP:0003632 any structural anomaly of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that receive and interpret stimuli and transmit impulses to effector organs to control body functions https://orcid.org/0000-0003-3691-0324 any functional anomaly of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that receive and interpret stimuli and transmit impulses to effector organs to control body functions MP:0000945 MP:0001887 MP:0001910 MP:0001918 MP:0002155 MP:0002158 MGI:2173615 MGI:2173618 abnormal brain function abnormal central nervous system physiology abnormal peripheral nervous system physiology central nervous system functional abnormalities central nervous system: other functional anomalies peripheral nervous system: functional anomalies MPheno.ontology MP:0003633 abnormal nervous system physiology MP:0003633 any functional anomaly of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that receive and interpret stimuli and transmit impulses to effector organs to control body functions https://orcid.org/0000-0003-3691-0324 any structural anomaly of non-neuronal cells of the nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons abnormal glia morphology abnormal neuroglia morphology glial cell dysplasia MPheno.ontology MP:0003634 abnormal glial cell morphology MP:0003634 any structural anomaly of non-neuronal cells of the nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons MESH:A08.637 defect in the communication from a neuron to a target across a synapse MP:0002202 abnormal neurotransmission MPheno.ontology MP:0003635 abnormal synaptic transmission MP:0003635 defect in the communication from a neuron to a target across a synapse MESH:G04.335.880.850 OBSOLETE. absence of the sensory epithelial cells of the inner ear MP:0004325 MP:0004405 MPheno.ontology MP:0003636 obsolete absence of hair cells true MP:0003636 OBSOLETE. absence of the sensory epithelial cells of the inner ear ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the cochlear ganglion, typically resulting in decreased size hypoplastic cochlear ganglion reduced number of spiral ganglion cells spiral ganglion hypoplasia MPheno.ontology MP:0003637 cochlear ganglion hypoplasia MP:0003637 decrease in the number of normal cells in normal arrangement in the cochlear ganglion, typically resulting in decreased size ISBN:0-683-40008-8 altered ability or inability to metabolize or respond to substances normally present in the body abnormal metabolism of endogenous compounds MPheno.ontology MP:0003638 abnormal response/metabolism to endogenous compounds MP:0003638 altered ability or inability to metabolize or respond to substances normally present in the body https://orcid.org/0000-0003-3691-0324 altered ability or inability to respond to or metabolize a group of organic substances that are required in trace amounts for the normal metabolic homeostasis of the body abnormal metabolism of vitamins MPheno.ontology MP:0003639 abnormal response to vitamins MP:0003639 altered ability or inability to respond to or metabolize a group of organic substances that are required in trace amounts for the normal metabolic homeostasis of the body MESH:D27.505.696.377.605.600 true MP:0003640 reduced size of the lung compared to controls decreased lung size MPheno.ontology MP:0003641 small lung MP:0003641 reduced size of the lung compared to controls J:95332 https://orcid.org/0000-0003-4606-0597 absence of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens absent seminal gland MPheno.ontology MP:0003642 absent seminal vesicle MP:0003642 absence of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens ISBN:0-683-40008-8 acquired diminution of the size of the spleen associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes atrophic spleen splenic atrophy MPheno.ontology MP:0003643 spleen atrophy MP:0003643 acquired diminution of the size of the spleen associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0003-3691-0324 acquired diminution of the size of the thymus associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes atrophic thymus atrophied thymus thymic atrophy MPheno.ontology MP:0003644 thymus atrophy MP:0003644 acquired diminution of the size of the thymus associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0003-3691-0324 greater than normal number of the cells of the pancreas that secrete insulin MPheno.ontology increased number of pancreatic beta cells MP:0003645 increased pancreatic beta cell number MP:0003645 greater than normal number of the cells of the pancreas that secrete insulin MESH:A03.734.414.131 increased muscle exhaustion or increased susceptibility to muscle exhaustion decreased resistance to muscle fatigue increased muscle fatiguability increased muscle fatigue increased susceptibility to muscle fatigue reduced resistance to muscle fatigue MPheno.ontology MP:0003646 increased muscle fatigability MP:0003646 increased muscle exhaustion or increased susceptibility to muscle exhaustion J:96306 absence of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS absent oligodendroglia absent oligodendroglial cells absent oligoglia absent oligoglia cells MPheno.ontology MP:0003647 absent oligodendrocytes MP:0003647 absence of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS MESH:A08.637.600 any structural anomaly of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult abnormal radial glia MPheno.ontology MP:0003648 abnormal radial glial cell morphology MP:0003648 any structural anomaly of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult https://orcid.org/0000-0003-3691-0324 less than average size of the right ventricle compared to the average for a particular population decreased right ventricle size reduced right ventricle MPheno.ontology MP:0003649 decreased heart right ventricle size MP:0003649 less than average size of the right ventricle compared to the average for a particular population https://orcid.org/0000-0002-6490-7723 true MP:0003650 abnormality in the ability of an axon to exhibit long distance growth of a single axon process from a neuron cell body involved in cellular development abnormal axon elongation abnormal axon outgrowth MPheno.ontology MP:0003651 abnormal axon extension MP:0003651 abnormality in the ability of an axon to exhibit long distance growth of a single axon process from a neuron cell body involved in cellular development GO:0048675 https://orcid.org/0009-0005-7755-8314 anomaly in the ability of the skin to resist deformation; influential factors include dehydration and age abnormal turgor MPheno.ontology MP:0003652 skin turgor is typically measured as the ability of the skin to bounce back to shape after being pinched abnormal skin turgor MP:0003652 anomaly in the ability of the skin to resist deformation; influential factors include dehydration and age https://orcid.org/0000-0003-3691-0324 skin turgor is typically measured as the ability of the skin to bounce back to shape after being pinched https://medlineplus.gov/ency/article/003281.htm reduced ability of the skin to resist deformation; influential factors include dehydration and age poor skin turgor poor turgor reduced skin turgor MPheno.ontology MP:0003653 decreased skin turgor MP:0003653 reduced ability of the skin to resist deformation; influential factors include dehydration and age https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the bone that forms the nasal bridge, typically resulting in increased size hyperplastic nasal bone MPheno.ontology MP:0003654 nasal bone hyperplasia MP:0003654 increase in the number of normal cells in normal arrangement in the bone that forms the nasal bridge, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 absence of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MPheno.ontology MP:0003655 absent pancreas MP:0003655 absence of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream https://orcid.org/0000-0002-6490-7723 aberrant measurable or observable characteristic related to the function of or processes in the cells in the blood that carry oxygen, red blood cells MP:0012383 abnormal RBC physiology abnormal red blood cell physiology MPheno.ontology MP:0003656 abnormal erythrocyte physiology MP:0003656 aberrant measurable or observable characteristic related to the function of or processes in the cells in the blood that carry oxygen, red blood cells MPD:Molly increase or decrease in the ability of erythrocytes to withstand changes in osmolarity abnormal RBC lysis abnormal erythrocyte lysis abnormal red blood cell lysis abnormal RBC fragility abnormal RBC stress abnormal erythrocyte fragility abnormal erythroid stress abnormal red blood cell fragility abnormal red blood cell stress MPheno.ontology MP:0003657 abnormal erythrocyte osmotic lysis MP:0003657 increase or decrease in the ability of erythrocytes to withstand changes in osmolarity https://orcid.org/0000-0003-4606-0597 any structural anomaly of the small branching blood vessels that form a network between the arterioles and venules, where the exchange of water, oxygen, carbon dioxide, and other nutrient and waste chemical substances occurs between the blood and the surrounding tissues abnormal capillaries MPheno.ontology MP:0003658 abnormal capillary morphology MP:0003658 any structural anomaly of the small branching blood vessels that form a network between the arterioles and venules, where the exchange of water, oxygen, carbon dioxide, and other nutrient and waste chemical substances occurs between the blood and the surrounding tissues http://en.wikipedia.org/wiki/Capillary https://orcid.org/0000-0003-3691-0324 abnormalities in the flow of the lymph from the tissues into the veins of the circulatory system MPheno.ontology MP:0003659 abnormal lymph circulation MP:0003659 abnormalities in the flow of the lymph from the tissues into the veins of the circulatory system https://orcid.org/0009-0005-7755-8314 an accumulation of chyle in the pleural space; chyle is fluid consisting of lymph and emulsified fats that is formed in the small intestine during digestion of fatty foods and taken up by the lymph vessels chylopleura chylous hydrothorax MPheno.ontology MP:0003660 chylothorax MP:0003660 an accumulation of chyle in the pleural space; chyle is fluid consisting of lymph and emulsified fats that is formed in the small intestine during digestion of fatty foods and taken up by the lymph vessels ISBN:0-683-40008-8 any structural anomaly of a dense cluster of neurons within the dorsorostral pons; it is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic abnormal locus coeruleus morphology MPheno.ontology MP:0003661 abnormal locus ceruleus morphology MP:0003661 any structural anomaly of a dense cluster of neurons within the dorsorostral pons; it is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic ISBN:0838580343 any anomaly of the germinal layer of the epiphyseal plate where cells are actively dividing as well as producing extracellular matrix MPheno.ontology abnormal long bone epiphysial plate proliferative zone MP:0003662 abnormal long bone epiphyseal plate proliferative zone MP:0003662 any anomaly of the germinal layer of the epiphyseal plate where cells are actively dividing as well as producing extracellular matrix https://orcid.org/0000-0003-4606-0597 defect in the ability to sense or display a preference for a given temperature abnormal thermal preference impaired thermosensation MPheno.ontology MP:0003663 abnormal thermosensation MP:0003663 defect in the ability to sense or display a preference for a given temperature J:96549 https://orcid.org/0009-0005-7755-8314 abnormal mass of hypertrophied bulbar subconjunctival tissue arising from the conjunctiva of the inner corner of the eye that obstructs vision by growing over the cornea towards the pupil pterygia Surfer's eye web eye MPheno.ontology MP:0003664 ocular pterygium MP:0003664 abnormal mass of hypertrophied bulbar subconjunctival tissue arising from the conjunctiva of the inner corner of the eye that obstructs vision by growing over the cornea towards the pupil ISBN:0-683-40008-8 https://orcid.org/0009-0005-7755-8314 inflammation of the internal structures of the tissues in the eyeball MPheno.ontology MP:0003665 endophthalmitis MP:0003665 inflammation of the internal structures of the tissues in the eyeball J:96018 https://orcid.org/0009-0005-7755-8314 reduced ability or inability of spermatozoa to undergo the series of morphological and molecular maturational processes in the female genital tract that enable them to penetrate and fertilize an egg MPheno.ontology MP:0003666 impaired sperm capacitation MP:0003666 reduced ability or inability of spermatozoa to undergo the series of morphological and molecular maturational processes in the female genital tract that enable them to penetrate and fertilize an egg GO:0048240 J:96669 higher than normal incidence of a malignant tumor characterized by rapidly proliferating, extensively infiltrating, anaplastic cells derived from blood vessels and appear as irregular blood-filled or lumpy sacs that are typically filled with blood; rupture of the tumor can cause rapid death from bleeding angiosarcoma increased haemangiosarcoma incidence MPheno.ontology haemangiosarcoma hemangiosarcoma MP:0003667 increased hemangiosarcoma incidence MP:0003667 higher than normal incidence of a malignant tumor characterized by rapidly proliferating, extensively infiltrating, anaplastic cells derived from blood vessels and appear as irregular blood-filled or lumpy sacs that are typically filled with blood; rupture of the tumor can cause rapid death from bleeding ISBN:0-683-40008-8 MESH:C04.557.450.795.390 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the fibrous connective tissue that surrounds the root of a tooth, separating it from and attaching it to the alveolar bone; normally extends from the base of the gingival mucosa to the fundus of the bony socket, and its main function is to hold the tooth in its socket abnormal periodontium ligament MPheno.ontology MP:0003668 abnormal periodontal ligament morphology MP:0003668 any structural anomaly of the fibrous connective tissue that surrounds the root of a tooth, separating it from and attaching it to the alveolar bone; normally extends from the base of the gingival mucosa to the fundus of the bony socket, and its main function is to hold the tooth in its socket https://orcid.org/0000-0002-6490-7723 increased cell density of the periodontal ligament MPheno.ontology MP:0003669 periodontal ligament hypercellularity MP:0003669 increased cell density of the periodontal ligament https://orcid.org/0000-0002-6490-7723 stretched or widened aperture of the expanded beginning of a nephron that contains the glomerulus Bowman's capsule dilation dilated Bowman's capsule dilated Bowman's capsules dilated renal glomerular capsules renal glomerular capsule dilation MPheno.ontology MP:0003670 dilated renal glomerular capsule MP:0003670 stretched or widened aperture of the expanded beginning of a nephron that contains the glomerulus https://orcid.org/0000-0002-6490-7723 any anomaly in the normal distance from one eyelid to the other, or closure of the eyes abnormal eye lid aperture abnormal eyelid opening MPheno.ontology abnormal blepharon fissure size abnormal palpebral fissure size MP:0003671 abnormal eyelid aperture MP:0003671 any anomaly in the normal distance from one eyelid to the other, or closure of the eyes https://orcid.org/0000-0003-3691-0324 any anomaly in the differentiation of the tube that conducts the urine from the renal pelvis to the bladder MPheno.ontology MP:0003672 abnormal ureter development MP:0003672 any anomaly in the differentiation of the tube that conducts the urine from the renal pelvis to the bladder https://orcid.org/0000-0003-4606-0597 any structural anomaly of the passage in the lower abdominal wall through which the spermatic cord in the male or the round ligament in the female, nerves and vessels pass from the pelvic cavity to the scrotum or labia majora, respectively MPheno.ontology inguinal canal dysplasia MP:0003673 abnormal inguinal canal morphology MP:0003673 any structural anomaly of the passage in the lower abdominal wall through which the spermatic cord in the male or the round ligament in the female, nerves and vessels pass from the pelvic cavity to the scrotum or labia majora, respectively ISBN:0-683-40008-8 MESH:A01.047.412 condition characterized by an accumulation of free radical groups in the body, which creates a potentially unstable and damaging cellular environment linked to tissue damage, accelerated aging, and degenerative disease; can result from many factors, including exposure to alcohol, medications, poor nutrition, trauma, cold or toxins; may be indicated by low antioxidant levels measured in blood plasma MPheno.ontology increased ROS production increased reactive oxygen species production MP:0003674 oxidative stress MP:0003674 condition characterized by an accumulation of free radical groups in the body, which creates a potentially unstable and damaging cellular environment linked to tissue damage, accelerated aging, and degenerative disease; can result from many factors, including exposure to alcohol, medications, poor nutrition, trauma, cold or toxins; may be indicated by low antioxidant levels measured in blood plasma MESH:G06.535.710 presence of one or more abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion MP:0005347 cystic kidney cystic kidneys kidney cysts renal cyst renal cysts MPheno.ontology MP:0003675 kidney cyst MP:0003675 presence of one or more abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 true MP:0003676 any structural anomaly in the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage MPheno.ontology MP:0003677 abnormal ear lobe morphology MP:0003677 any structural anomaly in the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage ISBN:0-683-40008-8 NCBI:matt missing the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage absence of ear lobes MPheno.ontology MP:0003678 absent ear lobes MP:0003678 missing the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage NCBI:matt decrease in the number of normal cells in normal arrangement in the ear lobe, typically resulting in decreased size hypoplastic ear lobes MPheno.ontology MP:0003679 ear lobe hypoplasia MP:0003679 decrease in the number of normal cells in normal arrangement in the ear lobe, typically resulting in decreased size NCBI:matt an increase in the fleshiness of the ear lobes fleshy earlobes MPheno.ontology MP:0003680 thick ear lobes MP:0003680 an increase in the fleshiness of the ear lobes NCBI:matt ear lobes that project outward protruding lobules MPheno.ontology MP:0003681 protruding ear lobes MP:0003681 ear lobes that project outward NCBI:matt appearance of fold-like marks in the ear lobe linear ear lobe creases MPheno.ontology MP:0003682 linear crease in ear lobe MP:0003682 appearance of fold-like marks in the ear lobe NCBI:matt conspicuous appearance of the ear lobes MPheno.ontology MP:0003683 prominent ear lobes MP:0003683 conspicuous appearance of the ear lobes NCBI:matt any structural anomaly in the capsule-shaped structure in the ventral medulla located just lateral and dorsal to the medullary pyramids; neurons in the inferior olivary nucleus are the source of climbing fiber input to the cerebellar cortex and have been implicated in various functions, such as learning and timing of movements abnormal inferior olivary nucleus morphology abnormal inferior olive morphology abnormal oliva morphology MPheno.ontology MP:0003684 abnormal inferior olivary complex morphology MP:0003684 any structural anomaly in the capsule-shaped structure in the ventral medulla located just lateral and dorsal to the medullary pyramids; neurons in the inferior olivary nucleus are the source of climbing fiber input to the cerebellar cortex and have been implicated in various functions, such as learning and timing of movements ISBN:0838580343 any structural anomaly of the parasympathetic ganglia of the cardiac plexus between the arch of the aorta and the bifurcation of the pulmonary artery abnormal Wrisberg ganglion morphology abnormal cardiac ganglia morphology MPheno.ontology MP:0003685 abnormal cardiac ganglion morphology MP:0003685 any structural anomaly of the parasympathetic ganglia of the cardiac plexus between the arch of the aorta and the bifurcation of the pulmonary artery ISBN:0-683-40008-8 any structural anomaly of the muscles of the eye eye muscle dysplasia ocular muscle dysplasia MPheno.ontology MP:0003686 abnormal eye muscle morphology MP:0003686 any structural anomaly of the muscles of the eye https://orcid.org/0000-0003-4606-0597 any structural anomaly of the smooth muscles within the eye abnormal intra-ocular muscle morphology MPheno.ontology MP:0003687 abnormal intraocular muscle morphology MP:0003687 any structural anomaly of the smooth muscles within the eye NCBI:matt https://orcid.org/0000-0003-4606-0597 loss of strength in the muscles that control eye movement MPheno.ontology MP:0003688 ophthalmoparesis MP:0003688 loss of strength in the muscles that control eye movement NCBI:matt https://orcid.org/0000-0003-4606-0597 paralysis of the ocular muscles MPheno.ontology MP:0003689 ophthalmoplegia MP:0003689 paralysis of the ocular muscles NCBI:matt https://orcid.org/0000-0003-4606-0597 any functional anomaly of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons abnormal glial cell function abnormal neuroglia physiology MPheno.ontology MP:0003690 abnormal glial cell physiology MP:0003690 any functional anomaly of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons MESH:A08.637 any functional anomaly of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system; microglia are scavengers, engulfing dead cells and other debris, and in Alzheimer's disease, microglia are found associated with dying nerve cells and amyloid plaques MPheno.ontology MP:0003691 abnormal microglial cell physiology MP:0003691 any functional anomaly of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system; microglia are scavengers, engulfing dead cells and other debris, and in Alzheimer's disease, microglia are found associated with dying nerve cells and amyloid plaques PMID:16322748 a deposit of cholesterol rich material in a tissue, most often in the skin but also seen in tendons and in the brain MPheno.ontology MP:0003692 xanthoma MP:0003692 a deposit of cholesterol rich material in a tissue, most often in the skin but also seen in tendons and in the brain https://orcid.org/0000-0003-4606-0597 any anomaly of the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation MPheno.ontology abnormal embryo hatching MP:0003693 abnormal blastocyst hatching MP:0003693 any anomaly of the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation GO:0001835 the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation, fails to occur MPheno.ontology MP:0003694 failure of blastocyst to hatch from the zona pellucida MP:0003694 the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation, fails to occur GO:0001835 the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation, occurs later in development than expected MPheno.ontology MP:0003695 delayed blastocyst hatching from the zona pellucida MP:0003695 the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation, occurs later in development than expected GO:0001835 any structural anomaly of the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation MPheno.ontology MP:0003696 abnormal zona pellucida morphology MP:0003696 any structural anomaly of the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation https://orcid.org/0000-0003-4606-0597 missing the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation MPheno.ontology MP:0003697 absent zona pellucida MP:0003697 missing the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation https://orcid.org/0000-0003-4606-0597 any functional anomaly of the male organs associated with producing offspring MPheno.ontology MP:0003698 abnormal male reproductive system physiology MP:0003698 any functional anomaly of the male organs associated with producing offspring https://orcid.org/0000-0003-3691-0324 any functional anomaly of the female organs associated with producing offspring MPheno.ontology MP:0003699 abnormal female reproductive system physiology MP:0003699 any functional anomaly of the female organs associated with producing offspring https://orcid.org/0000-0003-3691-0324 increased or decreased rate of passage of embryos or oocytes from the ovary to the uterus MPheno.ontology MP:0003700 abnormal oviduct transport MP:0003700 increased or decreased rate of passage of embryos or oocytes from the ovary to the uterus J:97633 https://orcid.org/0000-0003-4606-0597 increased number of crossovers between sister chromatids during mitosis resulting in increased numbers of reciprocal exchanges of DNA between the two chromosomes; normally crossover exchanges are supressed during mitosis and only occur in meiosis elevated SCE MPheno.ontology MP:0003701 elevated level of mitotic sister chromatid exchange MP:0003701 increased number of crossovers between sister chromatids during mitosis resulting in increased numbers of reciprocal exchanges of DNA between the two chromosomes; normally crossover exchanges are supressed during mitosis and only occur in meiosis MGI:hdene PMID:15831450 any structural anomaly of the compact, intertwined molecules of DNA found in the nucleus which carry genetic information Fyler:4013 MPheno.ontology MP:0003702 abnormal chromosome morphology MP:0003702 any structural anomaly of the compact, intertwined molecules of DNA found in the nucleus which carry genetic information MGI:hdene any structural anomaly of the group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia MP:0001090 abnormal spiral ganglion abnormal vestibular cochlear ganglion abnormal vestibular cochlear ganglion morphology abnormal vestibulocochlear ganglia morphology MPheno.ontology MP:0003703 abnormal vestibulocochlear ganglion morphology MP:0003703 any structural anomaly of the group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia https://orcid.org/0000-0003-4606-0597 any anomaly in the development of the tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open MPheno.ontology MP:0003704 abnormal hair follicle development MP:0003704 any anomaly in the development of the tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open GO:0001942 any structural anomaly of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia; usually consisting primarily of a fatty layer and may also include a muscle layer and/or a fibrous layer, or it may occur as a membranous layer only, being nearly devoid of fat; it contains skin ligaments extending between the dermis and deep fascia, cutaneous nerves, and superficial vessels, with terminal branches passing into the skin layers abnormal stratum subcutaneum morphology abnormal subcutaneous tissue morphology abnormal subcutis morphology abnormal superficial fascia morphology abnormal tela subcutanea morphology hypodermal dysplasia MPheno.ontology abnormal hypoderm morphology MP:0003705 abnormal hypodermis morphology MP:0003705 any structural anomaly of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia; usually consisting primarily of a fatty layer and may also include a muscle layer and/or a fibrous layer, or it may occur as a membranous layer only, being nearly devoid of fat; it contains skin ligaments extending between the dermis and deep fascia, cutaneous nerves, and superficial vessels, with terminal branches passing into the skin layers ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 absent or greater than one nuclei present per cell body when one is expected; often due to failed cytokinesis or events leading to apoptosis MPheno.ontology abnormal nucleus count MP:0003706 abnormal cell nucleus count MP:0003706 absent or greater than one nuclei present per cell body when one is expected; often due to failed cytokinesis or events leading to apoptosis MGI:pg greater than one nuclei present per cell body when one is expected; often due to failed cytokinesis MPheno.ontology increased nucleus count MP:0003707 increased cell nucleus count MP:0003707 greater than one nuclei present per cell body when one is expected; often due to failed cytokinesis MGI:pg two nuclei present per cell body when one is expected; often due to failed cytokinesis MPheno.ontology MP:0003708 binucleate MP:0003708 two nuclei present per cell body when one is expected; often due to failed cytokinesis MGI:pg absent nucleus of a cell body when one is expected; often due to events leading to apoptosis enucleate MPheno.ontology MP:0003709 anucleate MP:0003709 absent nucleus of a cell body when one is expected; often due to events leading to apoptosis MGI:pg anomalies in the development of new blood vessels in restoration of blood circulation during the healing process GO:0060055 abnormal angiogenesis involved in wound healing abnormal physiological angiogenesis MPheno.ontology MP:0003710 abnormal physiological neovascularization MP:0003710 anomalies in the development of new blood vessels in restoration of blood circulation during the healing process MESH:G09.330.582.751 abnormal physiological angiogenesis MESH:G09.330.582.751 the proliferation of blood vessels in abnormal tissues or in abnormal positions pathologic angiogenesis pathologic neovascularization pathological angiogenesis MPheno.ontology MP:0003711 pathological neovascularization MP:0003711 the proliferation of blood vessels in abnormal tissues or in abnormal positions MESH:C23.550.589.500 outer ears which are situated above the normal location MPheno.ontology MP:0003712 raised ear position MP:0003712 outer ears which are situated above the normal location MGI:cwg NCBI:matt outer ears that are positioned such that the ears are turned relative to the anterior-posterior body axis, but the ears emerge from the head at the usual position MPheno.ontology MP:0003713 abnormal ear rotation MP:0003713 outer ears that are positioned such that the ears are turned relative to the anterior-posterior body axis, but the ears emerge from the head at the usual position NCBI:matt https://orcid.org/0000-0003-3691-0324 lack of non-nucleated cells found in the blood and involved in blood coagulation absence of platelets absent thrombocytes MPheno.ontology MP:0003714 absent platelets MP:0003714 lack of non-nucleated cells found in the blood and involved in blood coagulation https://orcid.org/0000-0003-3691-0324 outer ears that are positioned such that the ears are turned backwards relative to the anterior-posterior body axis, but the ears emerge from the head at the usual position MPheno.ontology MP:0003715 posteriorly rotated ears MP:0003715 outer ears that are positioned such that the ears are turned backwards relative to the anterior-posterior body axis, but the ears emerge from the head at the usual position NCBI:matt https://orcid.org/0000-0003-3691-0324 outer ears that are positioned such that the ears are turned forward relative to the anterior-posterior body axis, but the ears emerge from the head at the usual position anteverted pinnae MPheno.ontology MP:0003716 anteriorly rotated ears MP:0003716 outer ears that are positioned such that the ears are turned forward relative to the anterior-posterior body axis, but the ears emerge from the head at the usual position NCBI:matt https://orcid.org/0000-0003-3691-0324 an unnatural paleness to the skin, generally attributable to anemia pale skin pallid MPheno.ontology MP:0003717 pallor MP:0003717 an unnatural paleness to the skin, generally attributable to anemia MESH:C23.888.885.500 expression of a phenotypic trait in a female animal's offspring that is dependent on the maternal genotype MPheno.ontology MP:0003718 maternal effect MP:0003718 expression of a phenotypic trait in a female animal's offspring that is dependent on the maternal genotype https://orcid.org/0000-0003-3691-0324 any structural anomaly of the connective tissue cells that occurs around capillaries or other small blood vessels abnormal adventitial reticular cell morphology abnormal cell of Rouget morphology abnormal pericyte of Rouget morphology MPheno.ontology MP:0003719 abnormal pericyte morphology MP:0003719 any structural anomaly of the connective tissue cells that occurs around capillaries or other small blood vessels https://orcid.org/0000-0003-4606-0597 any anomaly in the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline abnormal neural fold fusion abnormal neural tube fusion MPheno.ontology MP:0003720 abnormal neural tube closure MP:0003720 any anomaly in the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline https://orcid.org/0009-0005-7755-8314 greater than expected development of tumorous growth when compared to controls increased neoplasm growth/size increased tumour growth/size MPheno.ontology MP:0003721 increased tumor growth/size MP:0003721 greater than expected development of tumorous growth when compared to controls https://orcid.org/0000-0003-4606-0597 missing the tube that conducts the urine from the renal pelvis to the bladder MPheno.ontology MP:0003722 absent ureter MP:0003722 missing the tube that conducts the urine from the renal pelvis to the bladder https://orcid.org/0000-0003-3691-0324 any structural anomaly of the bones that consist of a tubular shaft (diaphysis) and two ends that are wider than the shaft (epiphysis); long bones include the femora, tibiae, and fibulae, and the humeri, radii, and ulnae of the limbs; metacarpals and metatarsals of the autopods, the phalanges of the digits, and the clavicles long bone dysplasia MPheno.ontology MP:0003723 abnormal long bone morphology MP:0003723 any structural anomaly of the bones that consist of a tubular shaft (diaphysis) and two ends that are wider than the shaft (epiphysis); long bones include the femora, tibiae, and fibulae, and the humeri, radii, and ulnae of the limbs; metacarpals and metatarsals of the autopods, the phalanges of the digits, and the clavicles ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 more likely to be stricken with changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures that are induced by inflammatory responses caused by chemical or mechanical agents decreased resistance to induced arthritis MPheno.ontology MP:0003724 increased susceptibility to induced arthritis MP:0003724 more likely to be stricken with changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures that are induced by inflammatory responses caused by chemical or mechanical agents MGI:acv elevated level of antibodies to self-antigens present in the sera; often indicative of autoimmune disease MPheno.ontology MP:0003725 increased autoantibody level MP:0003725 elevated level of antibodies to self-antigens present in the sera; often indicative of autoimmune disease MGI:acv https://orcid.org/0000-0003-3691-0324 reduced level of antibodies to self-antigens present in the sera reduced autoantibody level MPheno.ontology MP:0003726 decreased autoantibody level MP:0003726 reduced level of antibodies to self-antigens present in the sera MGI:acv https://orcid.org/0000-0003-3691-0324 any structural anomaly of any of the layers that make up the retina abnormal retinal layer morphology MPheno.ontology MP:0003727 abnormal retina layer morphology MP:0003727 any structural anomaly of any of the layers that make up the retina https://orcid.org/0000-0003-4606-0597 any structural anomaly of the photoreceptor layer abnormal photoreceptor layer abnormal retinal photoreceptor layer morphology MPheno.ontology MP:0003728 abnormal retina photoreceptor layer morphology MP:0003728 any structural anomaly of the photoreceptor layer https://orcid.org/0009-0005-7755-8314 any structural anomaly of the photoreceptor region that is rich in the visual pigment rhodopsin GO:0001750 abnormal photoreceptor outer segments MPheno.ontology MP:0003729 abnormal photoreceptor outer segment morphology MP:0003729 any structural anomaly of the photoreceptor region that is rich in the visual pigment rhodopsin https://orcid.org/0009-0005-7755-8314 any structural anomaly of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region GO:0001917 abnormal photoreceptor inner segments MPheno.ontology MP:0003730 abnormal photoreceptor inner segment morphology MP:0003730 any structural anomaly of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region https://orcid.org/0009-0005-7755-8314 any structural anomaly of the retinal layer that contains the nuclei and cell bodies of rods and cones abnormal retina ONL morphology abnormal retinal ONL morphology abnormal retinal outer nuclear layer morphology MPheno.ontology MP:0003731 abnormal retina outer nuclear layer morphology MP:0003731 any structural anomaly of the retinal layer that contains the nuclei and cell bodies of rods and cones https://orcid.org/0009-0005-7755-8314 any structural anomaly of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites) abnormal retina OPL morphology abnormal retinal OPL morphology abnormal retinal outer plexiform layer morphology MPheno.ontology MP:0003732 abnormal retina outer plexiform layer morphology MP:0003732 any structural anomaly of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites) https://orcid.org/0009-0005-7755-8314 any structural anomaly of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells abnormal retinal INL morphology abnormal retinal inner nuclear layer morphology MPheno.ontology MP:0003733 abnormal retina inner nuclear layer morphology MP:0003733 any structural anomaly of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells https://orcid.org/0009-0005-7755-8314 any structural anomaly of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites abnormal retina IPL morphology abnormal retinal IPL morphology abnormal retinal inner plexiform layer morphology MPheno.ontology MP:0003734 abnormal retina inner plexiform layer morphology MP:0003734 any structural anomaly of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites https://orcid.org/0009-0005-7755-8314 deeply concave appearance to the outer ear MPheno.ontology MP:0003735 cup-shaped ears MP:0003735 deeply concave appearance to the outer ear NCBI:matt the bending over of the upper cartilaginous rim of the outer ear MPheno.ontology MP:0003736 folded helix MP:0003736 the bending over of the upper cartilaginous rim of the outer ear NCBI:matt formation of bone in the outer ear, which is normally cartilaginous MPheno.ontology MP:0003737 ossification of pinnae MP:0003737 formation of bone in the outer ear, which is normally cartilaginous NCBI:matt https://orcid.org/0000-0003-3691-0324 true MP:0003738 thickening of the three small bones of the middle ear MPheno.ontology MP:0003739 dense middle ear ossicles MP:0003739 thickening of the three small bones of the middle ear NCBI:matt union of the three small bones of the middle ear into a single structure fused middle ear ossicles middle ear ossicle fusion MPheno.ontology MP:0003740 fusion of middle ear ossicles MP:0003740 union of the three small bones of the middle ear into a single structure NCBI:matt persistent sensation of buzzing, ringing, clicking, or other noises in the ear MPheno.ontology MP:0003741 tinnitus MP:0003741 persistent sensation of buzzing, ringing, clicking, or other noises in the ear MESH:C09.218.458.670 NCBI:matt a shorter ear- to -ear distance resulting in the appearance of a thin face and a protruding nasal region MPheno.ontology dolichocephaly MP:0003742 narrow head MP:0003742 a shorter ear- to -ear distance resulting in the appearance of a thin face and a protruding nasal region NCBI:matt any structural anomaly of the face MPheno.ontology MP:0003743 abnormal facial morphology MP:0003743 any structural anomaly of the face NCBI:matt any structural anomaly of the the mouth and the face MP:0003743 MPheno.ontology MP:0003744 obsolete abnormal orofacial morphology true MP:0003744 any structural anomaly of the the mouth and the face NCBI:matt any structural anomaly of the mucous membrane that lines the inside of the mouth and consists of stratified squamous epithelium termed oral epithelium and an underlying connective tissue termed lamina propria abnormal mouth mucosa morphology abnormal mucosal lining of the mouth abnormalities of the oral mucous membrane MPheno.ontology MP:0003745 In this context, oral mucosa includes any mucous membrane of the mouth - including palate, lips, uvula, etc. abnormal oral mucosa morphology MP:0003745 any structural anomaly of the mucous membrane that lines the inside of the mouth and consists of stratified squamous epithelium termed oral epithelium and an underlying connective tissue termed lamina propria https://en.wikipedia.org/wiki/Oral_mucosa inflammation of the mucous lining of the mouth MPheno.ontology MP:0003746 stomatitis MP:0003746 inflammation of the mucous lining of the mouth NCBI:matt lesions through the mucous membrane of the mouth, usually associated with loss of tissue mouth mucosal ulceration MPheno.ontology MP:0003747 mouth mucosal ulcer MP:0003747 lesions through the mucous membrane of the mouth, usually associated with loss of tissue NCBI:matt greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells in the oral mucosa, occurring in a specific population in a given time period increased oral mucosa haemangioma incidence MPheno.ontology oral mucosa haemangioma oral mucosa hemangioma MP:0003748 increased oral mucosa hemangioma incidence MP:0003748 greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells in the oral mucosa, occurring in a specific population in a given time period NCBI:matt https://orcid.org/0000-0003-3691-0324 the lateral points of the oral cavity opening appear in a lower position that the rest of the lips down slanted corners of mouth down turned corners of mouth down-slanted corners of mouth MPheno.ontology MP:0003749 down-turned corners of mouth MP:0003749 the lateral points of the oral cavity opening appear in a lower position that the rest of the lips NCBI:matt greater than the expected number of neoplasms in the mouth tissues, usually in the form of a distinct mass, in a specific population in a given time period increased mouth tumour incidence MPheno.ontology MP:0003750 increased mouth tumor incidence MP:0003750 greater than the expected number of neoplasms in the mouth tissues, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 white patchy lesions of the mucous membranes of the oral cavity; often considered a precancerous condition oral leucoplakia MPheno.ontology MP:0003751 oral leukoplakia MP:0003751 white patchy lesions of the mucous membranes of the oral cavity; often considered a precancerous condition NCBI:matt oral leucoplakia https://orcid.org/0000-0002-6490-7723 greater than the expected number of benign tumors consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic epithelial cells in the oral cavity MPheno.ontology oral papilloma MP:0003752 increased oral papilloma incidence MP:0003752 greater than the expected number of benign tumors consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic epithelial cells in the oral cavity MPATH:445 greater than the expected number of a benign epithelial tumor of the lip of the oral cavity, occurring in a specific population in a given time period MPheno.ontology lip papilloma MP:0003753 increased lip papilloma incidence MP:0003753 greater than the expected number of a benign epithelial tumor of the lip of the oral cavity, occurring in a specific population in a given time period NCBI:matt greater than the expected number of a benign epithelial tumor of the oral gum tissue MPheno.ontology gingival papilloma MP:0003754 increased gingival papilloma incidence MP:0003754 greater than the expected number of a benign epithelial tumor of the oral gum tissue NCBI:matt any structural anomaly of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) palate dysplasia MPheno.ontology MP:0003755 abnormal palate morphology MP:0003755 any structural anomaly of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) NCBI:matt any structural anomaly of the anterior part of the palate that is supported by and includes the palatal extensions of the maxillary and palatine bones in the adult MPheno.ontology MP:0003756 abnormal hard palate morphology MP:0003756 any structural anomaly of the anterior part of the palate that is supported by and includes the palatal extensions of the maxillary and palatine bones in the adult NCBI:matt greater distance upward to the roof of the oral cavity than usual MPheno.ontology MP:0003757 high palate MP:0003757 greater distance upward to the roof of the oral cavity than usual NCBI:matt abnormally slim shape to the roof of the oral cavity decreased palate width MPheno.ontology MP:0003758 narrow palate MP:0003758 abnormally slim shape to the roof of the oral cavity NCBI:matt abnormally wide shape to the roof of the oral cavity increased palate width wide palate MPheno.ontology MP:0003759 broad palate MP:0003759 abnormally wide shape to the roof of the oral cavity NCBI:matt reduction in the average distance of the deepest point in the midline of the palate relative to the midline point on the anterior crest of the alveolar gum pad ridge reduced palatal length short palate MPheno.ontology MP:0003760 decreased palatal length MP:0003760 reduction in the average distance of the deepest point in the midline of the palate relative to the midline point on the anterior crest of the alveolar gum pad ridge NCBI:matt abnormally concaved shape to the roof of the oral cavity MPheno.ontology MP:0003761 arched palate MP:0003761 abnormally concaved shape to the roof of the oral cavity NCBI:matt any functional anomaly of the organs of the immune system MPheno.ontology MP:0003762 abnormal immune organ physiology MP:0003762 any functional anomaly of the organs of the immune system https://orcid.org/0000-0003-3691-0324 any functional anomaly of the primary lymphoid organ that is required for immune system development MPheno.ontology MP:0003763 abnormal thymus physiology MP:0003763 any functional anomaly of the primary lymphoid organ that is required for immune system development ISBN:0-683-40008-8 any change in the average distance of the deepest point in the midline of the palate relative to the midline point on the anterior crest of the alveolar gum pad ridge MPheno.ontology MP:0003764 abnormal palatal length MP:0003764 any change in the average distance of the deepest point in the midline of the palate relative to the midline point on the anterior crest of the alveolar gum pad ridge NCBI:matt greater than average distance of the deepest point in the midline of the palate relative to the midline point on the anterior crest of the alveolar gum pad ridge long palate MPheno.ontology MP:0003765 increased palatal length MP:0003765 greater than average distance of the deepest point in the midline of the palate relative to the midline point on the anterior crest of the alveolar gum pad ridge NCBI:matt MP:0003760 MPheno.ontology MP:0003766 obsolete decreased palatal length true MP:0003766 local accumulation of fluid, plasma proteins and leukocytes in the palate palatal inflammation MPheno.ontology MP:0003767 palate inflammation MP:0003767 local accumulation of fluid, plasma proteins and leukocytes in the palate NCBI:matt vascular lesion formed by dilation of a group of small blood vessels in the palate palatal telangiectases palatal telangiectasias palatal telangiectasis MPheno.ontology MP:0003768 palatal telangiectasia MP:0003768 vascular lesion formed by dilation of a group of small blood vessels in the palate NCBI:matt any structural anomaly of the fleshy margins of the mouth MPheno.ontology MP:0003769 abnormal lip morphology MP:0003769 any structural anomaly of the fleshy margins of the mouth NCBI:matt lesions through the mucous membrane of the inner surface of the lip lip ulceration MPheno.ontology MP:0003770 lip ulcer MP:0003770 lesions through the mucous membrane of the inner surface of the lip NCBI:matt changes in the characteristic contours of the fleshy margins of the mouth MPheno.ontology MP:0003771 abnormal lip shape MP:0003771 changes in the characteristic contours of the fleshy margins of the mouth NCBI:matt an abnormal hollow or depression in the fleshy margins of the mouth lip pits MPheno.ontology MP:0003772 A lip pit is distinct from a cleft lip or a lip notch which may represent a mild case of cleft lip. lip pit MP:0003772 an abnormal hollow or depression in the fleshy margins of the mouth NCBI:matt PMID:25201852 https://orcid.org/0000-0002-6490-7723 A lip pit is distinct from a cleft lip or a lip notch which may represent a mild case of cleft lip. PMID:37075751 https://orcid.org/0000-0002-6490-7723 an outward turning of the inner surface of the lip eclabium eversion of a lip everted lip everted lips outward turned lip outward turned lips MPheno.ontology MP:0003773 eclabion MP:0003773 an outward turning of the inner surface of the lip NCBI:matt lips having an abundance and often an excess of soft tissue fleshy lip full lip increased volume of lip plump lip prominent lip MPheno.ontology MP:0003774 thick lip MP:0003774 lips having an abundance and often an excess of soft tissue NCBI:matt lips having a reduced amount of soft tissue MPheno.ontology MP:0003775 thin lip MP:0003775 lips having a reduced amount of soft tissue NCBI:matt acquired diminution of the size of the lip tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MPheno.ontology MP:0003776 lip atrophy MP:0003776 acquired diminution of the size of the lip tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes NCBI:matt local accumulation of fluid, plasma proteins and leukocytes in the lips cheilitis MPheno.ontology MP:0003777 lip inflammation MP:0003777 local accumulation of fluid, plasma proteins and leukocytes in the lips NCBI:matt vascular lesion formed by dilation of a group of small blood vessels in the lip lip telangiectases lip telangiectasias lip telangiectasis MPheno.ontology MP:0003778 lip telangiectasia MP:0003778 vascular lesion formed by dilation of a group of small blood vessels in the lip NCBI:matt presence of one or more fluid-filled membranous sacs in one or both lips cystic lip cystic lips lip cysts MPheno.ontology MP:0003779 lip cyst MP:0003779 presence of one or more fluid-filled membranous sacs in one or both lips NCBI:matt greater than the expected number of abnormal rapidly proliferating cells in the lip, usually in the form of a distinct mass, occurring in a specific population in a given time period increased lip tumour incidence MPheno.ontology lip tumor lip tumour MP:0003780 increased lip tumor incidence MP:0003780 greater than the expected number of abnormal rapidly proliferating cells in the lip, usually in the form of a distinct mass, occurring in a specific population in a given time period NCBI:matt greater than the expected number of a tumor derived from nerve cells or fibers residing in the lip, occurring in a specific population in a given time period MPheno.ontology lip neuroma MP:0003781 increased lip neuroma incidence MP:0003781 greater than the expected number of a tumor derived from nerve cells or fibers residing in the lip, occurring in a specific population in a given time period NCBI:matt lip that does not extend fully to the normal placement and meet the opposite lip MPheno.ontology MP:0003782 short lip MP:0003782 lip that does not extend fully to the normal placement and meet the opposite lip NCBI:matt an upper lip having an inverted V- shape MPheno.ontology MP:0003783 tented upper lip MP:0003783 an upper lip having an inverted V- shape NCBI:matt reduced thickness of the line between the lip and the facial skin around the mouth MPheno.ontology MP:0003784 thin lip vermilion border MP:0003784 reduced thickness of the line between the lip and the facial skin around the mouth NCBI:matt small mass of tissue or aggregation of cells in the mucosal tissue of the inner lip MPheno.ontology MP:0003785 lip mucosal nodules MP:0003785 small mass of tissue or aggregation of cells in the mucosal tissue of the inner lip NCBI:matt earlier than normal occurrence of the normal signs of aging premature ageing MPheno.ontology MP:0003786 premature aging MP:0003786 earlier than normal occurrence of the normal signs of aging https://orcid.org/0000-0003-4606-0597 defects in the establishment of heritable alterations in the activity of a gene that depend on whether it passed through the paternal or the maternal germline, but that are not encoded by DNA itself abnormal regulation of gene expression by DNA imprinting abnormal regulation of gene expression by genetic imprinting MPheno.ontology MP:0003787 abnormal imprinting MP:0003787 defects in the establishment of heritable alterations in the activity of a gene that depend on whether it passed through the paternal or the maternal germline, but that are not encoded by DNA itself GO:0006349 OBSOLETE. impairment or increase of the cellular release of any of the cytokines produced by T cells, fibroblasts and other cells in response to a challenge by a foreign agents such as viruses, bacteria, parasites and tumor cells MP:0008555 MP:0008750 MPheno.ontology MP:0003788 obsolete abnormal interferon physiology true MP:0003788 OBSOLETE. impairment or increase of the cellular release of any of the cytokines produced by T cells, fibroblasts and other cells in response to a challenge by a foreign agents such as viruses, bacteria, parasites and tumor cells ISBN:0-683-40008-8 MGI:hdene greater than the expected number of a malignant neoplasm derived form mesenchymal stem cells, osteoblasts or osteocytes, occurring in a specific population in a given time period; osteosarcoma is a highly invasive and destructive tumor rising in the skeleton with osteoid and immature woven bone MPheno.ontology osteogenic sarcoma MP:0003789 increased osteosarcoma incidence MP:0003789 greater than the expected number of a malignant neoplasm derived form mesenchymal stem cells, osteoblasts or osteocytes, occurring in a specific population in a given time period; osteosarcoma is a highly invasive and destructive tumor rising in the skeleton with osteoid and immature woven bone MPATH:397 lack of the set of single-positive T cells that express CD4 on their surface absent single positive T cells absent CD4+ T cells absent CD4+8- T cells absent CD4-positive T cells MPheno.ontology MP:0003790 absent CD4-positive, alpha-beta T cells MP:0003790 lack of the set of single-positive T cells that express CD4 on their surface MGI:acv MGI:cwg https://orcid.org/0000-0003-3691-0324 any structural anomaly of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands MPheno.ontology MP:0003791 abnormal minor salivary gland morphology MP:0003791 any structural anomaly of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the three largest glands of the oral cavity that secrete most of the saliva, including the parotid, submandibular, and sublingual glands MPheno.ontology MP:0003792 abnormal major salivary gland morphology MP:0003792 any structural anomaly of the three largest glands of the oral cavity that secrete most of the saliva, including the parotid, submandibular, and sublingual glands ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any structural anomaly of either of the large major salivary glands situated beneath the mandible abnormal maxillary gland morphology abnormal submaxillary gland morphology MPheno.ontology MP:0003793 abnormal submandibular gland morphology MP:0003793 any structural anomaly of either of the large major salivary glands situated beneath the mandible https://orcid.org/0000-0002-6490-7723 late onset of the induction and/or differentiation of the somites MPheno.ontology MP:0003794 delayed somite formation MP:0003794 late onset of the induction and/or differentiation of the somites J:99723 https://orcid.org/0000-0003-4606-0597 anomaly in the composite material or the layered arrangement of the bony endoskeleton of the body MPheno.ontology MP:0003795 abnormal bone structure MP:0003795 anomaly in the composite material or the layered arrangement of the bony endoskeleton of the body https://orcid.org/0000-0003-3691-0324 true MP:0003796 any structural anomaly of the outer layers of solid, hard bone that covers spongy bone; consists of parallel osteons containing mineral deposits and interstitial lamellae MP:0003796 abnormal cortical bone morphology abnormal dense bone abnormal lamellar bone MPheno.ontology MP:0003797 abnormal compact bone morphology MP:0003797 any structural anomaly of the outer layers of solid, hard bone that covers spongy bone; consists of parallel osteons containing mineral deposits and interstitial lamellae ISBN:0-683-40008-8 MGI:hdene any anomaly in the coloring of the sebaceous gland located behind the eyeball in the orbit that excretes fluid that facilitates movement of the third eyelid, due to changes in the amount, shape, or distribution of cells producing pigment MPheno.ontology MP:0003798 The Harderian gland does not normally exist in some types of mammals (bats, cows and horses), terrestrial carnivores, and higher primates including human. abnormal Harderian gland pigmentation MP:0003798 any anomaly in the coloring of the sebaceous gland located behind the eyeball in the orbit that excretes fluid that facilitates movement of the third eyelid, due to changes in the amount, shape, or distribution of cells producing pigment MGI:llw2 reduced diffusion or accumulation of macrophages in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions MP:0005496 decreased macrophage recruitment impaired macrophage migration impaired macrophage recruitment reduced macrophage recruitment MPheno.ontology MP:0003799 impaired macrophage chemotaxis MP:0003799 reduced diffusion or accumulation of macrophages in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions GO:0048246 having only one toe or digit on each extremity monodactylous MPheno.ontology MP:0003800 monodactyly MP:0003800 having only one toe or digit on each extremity https://orcid.org/0009-0005-7755-8314 OBSOLETE. deviation from the parental type of histocompatibility altered histocompatibility locus MPheno.ontology MP:0003801 obsolete deviant histocompatibility locus true MP:0003801 OBSOLETE. deviation from the parental type of histocompatibility MGI:mberry OBSOLETE. deviation from the parental type of class I histocompatibility MPheno.ontology MP:0003802 obsolete deviant class I histocompatibility locus true MP:0003802 OBSOLETE. deviation from the parental type of class I histocompatibility MGI:mberry OBSOLETE. deviation from the parental type of class II histocompatibility MPheno.ontology MP:0003803 obsolete deviant class II histocompatibility locus true MP:0003803 OBSOLETE. deviation from the parental type of class II histocompatibility MGI:mberry OBSOLETE. deviation from the parental type of minor histocompatibility MPheno.ontology MP:0003804 obsolete deviant minor histocompatibility locus true MP:0003804 OBSOLETE. deviation from the parental type of minor histocompatibility MGI:mberry OBSOLETE. deviation from the parental type of a histocompatibility-related locus MPheno.ontology MP:0003805 obsolete deviant histocompatibility-related locus true MP:0003805 OBSOLETE. deviation from the parental type of a histocompatibility-related locus MGI:mberry any anomaly in the chemical reactions and pathways involving a nucleotide, including metabolic, catabolic and biosynthetic processes MPheno.ontology MP:0003806 abnormal nucleotide metabolism MP:0003806 any anomaly in the chemical reactions and pathways involving a nucleotide, including metabolic, catabolic and biosynthetic processes GO:0009117 permanent flexion of one or more digits; contractures may also be seen in the wrists and at the elbows flexed digits flexed fingers flexed toes MPheno.ontology MP:0003807 camptodactyly MP:0003807 permanent flexion of one or more digits; contractures may also be seen in the wrists and at the elbows https://orcid.org/0000-0003-3691-0324 larger than normal mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal enlarged atrioventricular cushions enlarged endocardial cushions increased endocardial cushion size MPheno.ontology MP:0003808 increased atrioventricular cushion size MP:0003808 larger than normal mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal MGI:mac any structural anomaly of the cuticle, cortex and/or medulla of a hair MP:0002854 abnormal hair shaft abnormal hair fiber morphology abnormal hair fibre morphology hair shaft dysplasia MPheno.ontology MP:0003809 abnormal hair shaft morphology MP:0003809 any structural anomaly of the cuticle, cortex and/or medulla of a hair MGI:llw2 anomalies in the thin, smooth and glossy outer protective cell layer of hair shaft MPheno.ontology MP:0003810 abnormal hair cuticle MP:0003810 anomalies in the thin, smooth and glossy outer protective cell layer of hair shaft MGI:llw2 any structural anomaly in the spindle shaped cells of the hair shaft that contains keratin fibrils and matrix MPheno.ontology MP:0003811 abnormal hair cortex morphology MP:0003811 any structural anomaly in the spindle shaped cells of the hair shaft that contains keratin fibrils and matrix MGI:llw2 anomalies of hair medullary cell formation and arrangement of the innermost core of the hair shaft MPheno.ontology MP:0003812 abnormal hair medulla MP:0003812 anomalies of hair medullary cell formation and arrangement of the innermost core of the hair shaft ISBN:0-8493-8372-2 MGI:llw2 any structural anomaly of the mesodermal signaling center of the hair follicle consisting of closely packed specialized mesenchymal fibroblasts MPheno.ontology MP:0003813 abnormal hair follicle dermal papilla morphology MP:0003813 any structural anomaly of the mesodermal signaling center of the hair follicle consisting of closely packed specialized mesenchymal fibroblasts PMID:19211055 decrease in the number of normal cells in normal arrangement in the vascular smooth muscle, typically resulting in decreased size hypoplastic vascular smooth muscle vascular smooth muscle cell hypoplasia MPheno.ontology MP:0003814 vascular smooth muscle hypoplasia MP:0003814 decrease in the number of normal cells in normal arrangement in the vascular smooth muscle, typically resulting in decreased size MGI:cwg having no hair at any time throughout lifespan, generally referring to primary genetic hairlessness absent hair nude MPheno.ontology bald hypotrichosis naked MP:0003815 hairless MP:0003815 having no hair at any time throughout lifespan, generally referring to primary genetic hairlessness MGI:llw2 malformation or incomplete differentiation of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin MPheno.ontology abnormal pituitary development MP:0003816 abnormal pituitary gland development MP:0003816 malformation or incomplete differentiation of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin J:51160 https://orcid.org/0000-0003-4606-0597 any structural anomaly of a tubular outgrowth of ectoderm from the stomodeum of the embryo; the outgrowth grows toward the infundibular process of the diencephalon, around which it forms a cup-like mass, giving rise to the pars distalis and pars juxtaneuralis of the hypophysis abnormal Rathke diverticulum morphology abnormal Rathke's pocket morphology abnormal Rathke's pouch morphology abnormal craniopharyngeal duct morphology abnormal hypophyseal pouch morphology MPheno.ontology MP:0003817 abnormal pituitary diverticulum morphology MP:0003817 any structural anomaly of a tubular outgrowth of ectoderm from the stomodeum of the embryo; the outgrowth grows toward the infundibular process of the diencephalon, around which it forms a cup-like mass, giving rise to the pars distalis and pars juxtaneuralis of the hypophysis ISBN:0-683-40008-8 malformation or arrest of differentiation of the muscles of the eye MPheno.ontology MP:0003818 abnormal eye muscle development MP:0003818 malformation or arrest of differentiation of the muscles of the eye J:51160 https://orcid.org/0000-0003-4606-0597 increase in the pressure in the left ventricle between heart beats when the heart is relaxed MPheno.ontology MP:0003819 increased left ventricle diastolic pressure MP:0003819 increase in the pressure in the left ventricle between heart beats when the heart is relaxed RGD:cur increase in the pressure in the left ventricle as the heart contracts and pumps blood into the arteries MPheno.ontology MP:0003820 increased left ventricle systolic pressure MP:0003820 increase in the pressure in the left ventricle as the heart contracts and pumps blood into the arteries RGD:cur decrease in the pressure in the left ventricle between heart beats when the heart is relaxed reduced left ventricle diastolic pressure MPheno.ontology MP:0003821 decreased left ventricle diastolic pressure MP:0003821 decrease in the pressure in the left ventricle between heart beats when the heart is relaxed RGD:cur decrease in the pressure in the left ventricle as the heart contracts and pumps blood into the arteries reduced left ventricle systolic pressure MPheno.ontology MP:0003822 decreased left ventricle systolic pressure MP:0003822 decrease in the pressure in the left ventricle as the heart contracts and pumps blood into the arteries RGD:cur increase in the difference between left ventricular systolic and diastolic pressures increased LVDP increased left ventricular developed pressure MPheno.ontology MP:0003823 increased left ventricle developed pressure MP:0003823 increase in the difference between left ventricular systolic and diastolic pressures RGD:cur decrease in the difference between left ventricular systolic and diastolic pressures decreased LVDP decreased left ventricular developed pressure reduced LVDP reduced left ventricular developed pressure MPheno.ontology MP:0003824 decreased left ventricle developed pressure MP:0003824 decrease in the difference between left ventricular systolic and diastolic pressures RGD:cur any structural anomaly of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti MPheno.ontology MP:0003825 abnormal pillar cell morphology MP:0003825 any structural anomaly of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti https://orcid.org/0009-0005-7755-8314 any structural anomaly of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina abnormal Muller duct morphology abnormal paramesonephric duct MPheno.ontology MP:0003826 abnormal Mullerian duct morphology MP:0003826 any structural anomaly of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina ISBN:0-683-40008-8 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male abnormal Gartner's duct morphology abnormal Leydig's duct morphology abnormal archinephric duct morphology abnormal ductus mesonephricus abnormal mesonephric duct morphology abnormal nephric duct morphology abnormal pronephric duct morphology MPheno.ontology MP:0003827 abnormal Wolffian duct morphology MP:0003827 any structural anomaly of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male ISBN:0-683-40008-8 MESH:A16.254.940 an accumulation of an excessive amount of serous fluid in the parenchyma and the alveoli via effusion of intravascular fluid from the pulmonary vascular bed pulmonary oedema wet lung MPheno.ontology MP:0003828 pulmonary edema MP:0003828 an accumulation of an excessive amount of serous fluid in the parenchyma and the alveoli via effusion of intravascular fluid from the pulmonary vascular bed MESH:C08.381.742 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 wet lung MESH:C08.381.742 reduced or absent febrile response to exogenous or endogenous pyrogens impaired fever response MPheno.ontology MP:0003829 impaired febrile response MP:0003829 reduced or absent febrile response to exogenous or endogenous pyrogens https://orcid.org/0000-0002-6490-7723 abnormal morphogenesis of the male reproductive gland containing the germ cells MPheno.ontology MP:0003830 abnormal testis development MP:0003830 abnormal morphogenesis of the male reproductive gland containing the germ cells https://orcid.org/0000-0003-4606-0597 true MP:0003831 true MP:0003832 less than the normal number of unfused cells in muscle that play a role in muscle regeneration decreased number of satellite cells reduced satellite cell number MPheno.ontology MP:0003833 decreased satellite cell number MP:0003833 less than the normal number of unfused cells in muscle that play a role in muscle regeneration https://orcid.org/0000-0003-4606-0597 any structural anomaly of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion abnormal adrenergic chromaffin neuron MPheno.ontology MP:0003834 abnormal adrenergic chromaffin cell morphology MP:0003834 any structural anomaly of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion https://orcid.org/0000-0003-4606-0597 true MP:0003835 true MP:0003836 true MP:0003837 anomaly of the milk ejection reflex in response to suckling during lactation MPheno.ontology MP:0003838 abnormal milk ejection MP:0003838 anomaly of the milk ejection reflex in response to suckling during lactation https://orcid.org/0000-0002-6490-7723 increase or decrease in the rate at which insulin is removed from the blood stream MPheno.ontology MP:0003839 abnormal insulin clearance MP:0003839 increase or decrease in the rate at which insulin is removed from the blood stream https://orcid.org/0000-0003-4606-0597 any structural anomaly of the dense, fibrous connective tissue joint between the parietal bones and the frontal bone abnormal frontoparietal suture morphology MPheno.ontology MP:0003840 abnormal coronal suture morphology MP:0003840 any structural anomaly of the dense, fibrous connective tissue joint between the parietal bones and the frontal bone ISBN:0803606559 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the dense, fibrous connective tissue joint between the superior border of the occipital bone and the posterior borders of the right and left parietal bones abnormal lambdoidal suture morphology abnormal occipital suture morphology abnormal occipitoparietal suture morphology MPheno.ontology MP:0003841 abnormal lambdoid suture morphology MP:0003841 any structural anomaly of the dense, fibrous connective tissue joint between the superior border of the occipital bone and the posterior borders of the right and left parietal bones ISBN:0803606559 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the dense, fibrous connective tissue joint between the frontal bones from the sagittal suture to the root of the nose; it is visible in neonates and juveniles, but it is frequently obliterated in some adult organisms; in mice and rats, the posterior frontal (PF) suture, situated between the frontal bones, is analogous to the human metopic suture; the anterior landmark for the PF suture is the jugum limitans; the posterior landmark for the PF suture is the bregma abnormal frontal suture morphology abnormal interfrontal suture morphology abnormal median frontal suture morphology abnormal mediofrontal suture morphology MPheno.ontology MP:0003842 abnormal metopic suture morphology MP:0003842 any structural anomaly of the dense, fibrous connective tissue joint between the frontal bones from the sagittal suture to the root of the nose; it is visible in neonates and juveniles, but it is frequently obliterated in some adult organisms; in mice and rats, the posterior frontal (PF) suture, situated between the frontal bones, is analogous to the human metopic suture; the anterior landmark for the PF suture is the jugum limitans; the posterior landmark for the PF suture is the bregma ISBN:0803606559 PMID:15882577 https://orcid.org/0000-0002-6490-7723 https://radiopaedia.org/articles/metopic-suture any structural anomaly of the dense, fibrous connective tissue joint between the parietal bones abnormal interparietal suture morphology abnormal longitudinal suture morphology abnormal parietal suture morphology MPheno.ontology MP:0003843 abnormal sagittal suture morphology MP:0003843 any structural anomaly of the dense, fibrous connective tissue joint between the parietal bones ISBN:0803606559 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the dense, fibrous connective tissue joint between the squamous part of the temporal bone and the inferior aspect of the parietal bone; posteriorly, the squamous suture becomes the parietomastoid suture where the mastoid process articulates with the parietal bone; anteriorly, the squamous suture extends towards the pterion abnormal squamo-parietal suture morphology abnormal squamosal suture morphology abnormal squamous suture morphology MPheno.ontology MP:0003844 abnormal squamoparietal suture morphology MP:0003844 any structural anomaly of the dense, fibrous connective tissue joint between the squamous part of the temporal bone and the inferior aspect of the parietal bone; posteriorly, the squamous suture becomes the parietomastoid suture where the mastoid process articulates with the parietal bone; anteriorly, the squamous suture extends towards the pterion ISBN:0803606559 http://anatomyzone.com/anatomy-feed/squamous-suture/ https://orcid.org/0000-0002-6490-7723 atypical cellular and vascular changes occurring in the endometrium of the pregnant uterus just after the onset of blastocyst implantation; this process involves the proliferation and differentiation of the fibroblast-like endometrial stromal cells into large, polyploid decidual cells that eventually form the maternal component of the placenta; expected changes include the eosinophilic proliferation around arterioles after ovulation or progesterone action on endometrium which increases glandular epithelial secretion, stimulates glycogen accumulation in stromal cell cytoplasm, and promotes stromal vascularity (spiral arterioles) and edema abnormal decidual cell reaction defective decidualization MPheno.ontology MP:0003845 abnormal decidualization MP:0003845 atypical cellular and vascular changes occurring in the endometrium of the pregnant uterus just after the onset of blastocyst implantation; this process involves the proliferation and differentiation of the fibroblast-like endometrial stromal cells into large, polyploid decidual cells that eventually form the maternal component of the placenta; expected changes include the eosinophilic proliferation around arterioles after ovulation or progesterone action on endometrium which increases glandular epithelial secretion, stimulates glycogen accumulation in stromal cell cytoplasm, and promotes stromal vascularity (spiral arterioles) and edema GO:0046697 https://orcid.org/0000-0002-6490-7723 coat hairs sticks together to form clumps and does not lie flat MPheno.ontology MP:0003846 matted coat MP:0003846 coat hairs sticks together to form clumps and does not lie flat MGI:llw2 derangement of the area where the lens epithelium pushes into the lens proper and forms new lens fibers disorganised lens bow MPheno.ontology MP:0003847 disorganized lens bow MP:0003847 derangement of the area where the lens epithelium pushes into the lens proper and forms new lens fibers MGI:brs hair is susceptible to breakage MPheno.ontology MP:0003848 brittle hair MP:0003848 hair is susceptible to breakage MGI:llw2 fur is oily in appearance or texture oily coat MPheno.ontology MP:0003849 greasy coat MP:0003849 fur is oily in appearance or texture MGI:llw2 oily coat https://orcid.org/0000-0002-6490-7723 anomaly in the process of producing activated thymocytes from naive thymocytes MPheno.ontology MP:0003850 abnormal thymocyte activation MP:0003850 anomaly in the process of producing activated thymocytes from naive thymocytes MGI:mberry formation of fibrous tissue within the interstices of skeletal muscle as a result of repair or a reactive process MPheno.ontology MP:0003851 skeletal muscle interstitial fibrosis MP:0003851 formation of fibrous tissue within the interstices of skeletal muscle as a result of repair or a reactive process ISBN:0-683-40008-8 morphological changes resulting from pathological death of skeletal muscle tissue; usually due to irreversible damage necrotic skeletal muscle necrotic skeletal muscles MPheno.ontology MP:0003852 skeletal muscle necrosis MP:0003852 morphological changes resulting from pathological death of skeletal muscle tissue; usually due to irreversible damage ISBN:0-683-40008-8 skin characterized by the lack of natural or normal moisture xerosis MPheno.ontology MP:0003853 dry skin MP:0003853 skin characterized by the lack of natural or normal moisture https://orcid.org/0009-0005-7755-8314 any structural anomaly of the proximal element of the forelimb including the humerus MPheno.ontology MP:0003854 abnormal forelimb stylopod morphology MP:0003854 any structural anomaly of the proximal element of the forelimb including the humerus PMID:12560810 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the distal elements of the forelimb including the radius and ulna MPheno.ontology abnormal lower arm morphology MP:0003855 abnormal forelimb zeugopod morphology MP:0003855 any structural anomaly of the distal elements of the forelimb including the radius and ulna PMID:12560810 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the proximal element of the hindlimb including the femur abnormal hind limb stylopod morphology MPheno.ontology MP:0003856 abnormal hindlimb stylopod morphology MP:0003856 any structural anomaly of the proximal element of the hindlimb including the femur PMID:12560810 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the distal elements of the hindlimb including the tibia and fibula abnormal hind limb zeugopod morphology MPheno.ontology MP:0003857 abnormal hindlimb zeugopod morphology MP:0003857 any structural anomaly of the distal elements of the hindlimb including the tibia and fibula PMID:12560810 https://orcid.org/0000-0003-3691-0324 improved ability to execute integrated movements of muscle MPheno.ontology MP:0003858 enhanced coordination MP:0003858 improved ability to execute integrated movements of muscle https://orcid.org/0000-0003-3691-0324 any functional anomaly of the retroocular sebaceous gland found within the orbit of mammals that possess a nictitating membrane (third eyelid); the chief products of the gland vary between different groups of vertebrates, and epithelial cells possess granules or vacuoles whose contents may be mucous, serous or lipid; in rodents, the Harderian gland is especially large and secretes lipids (by a merocrine mechanism), melatonin and porphyrins; ascribed functions include a role in lubrication and protection for the eyeball and nictitating membrane (by lipids), photoprotection (by porphyrin), photoreception (by regulation of the incidence of light on the retina), and thermoregulation (in some rodents) MPheno.ontology MP:0003859 The Harderian gland does not normally exist in some types of mammals (bats, cows and horses), terrestrial carnivores, and higher primates including human. abnormal Harderian gland physiology MP:0003859 any functional anomaly of the retroocular sebaceous gland found within the orbit of mammals that possess a nictitating membrane (third eyelid); the chief products of the gland vary between different groups of vertebrates, and epithelial cells possess granules or vacuoles whose contents may be mucous, serous or lipid; in rodents, the Harderian gland is especially large and secretes lipids (by a merocrine mechanism), melatonin and porphyrins; ascribed functions include a role in lubrication and protection for the eyeball and nictitating membrane (by lipids), photoprotection (by porphyrin), photoreception (by regulation of the incidence of light on the retina), and thermoregulation (in some rodents) ISBN:0486631850 PMID:8843648 https://orcid.org/0009-0005-7755-8314 anomalous concentration of CO2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases MPheno.ontology MP:0003860 abnormal carbon dioxide level MP:0003860 anomalous concentration of CO2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases https://orcid.org/0000-0003-3691-0324 impaired or altered growth of the components of the nervous system MPheno.ontology MP:0003861 abnormal nervous system development MP:0003861 impaired or altered growth of the components of the nervous system https://orcid.org/0000-0003-3691-0324 when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards male mice reduced aggression towards males MPheno.ontology MP:0003862 decreased aggression towards male mice MP:0003862 when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards male mice https://orcid.org/0009-0005-7755-8314 when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards other mice reduced aggression towards mice MPheno.ontology MP:0003863 decreased aggression towards mice MP:0003863 when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards other mice https://orcid.org/0009-0005-7755-8314 anomaly in the formation of or the patterning of the part of the brainstem developing from the middle of the three primary cerebral vesicles of the embryo abnormal mesencephalon development MPheno.ontology MP:0003864 abnormal midbrain development MP:0003864 anomaly in the formation of or the patterning of the part of the brainstem developing from the middle of the three primary cerebral vesicles of the embryo ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 local accumulation of fluid, plasma proteins, and leukocytes in the lymph nodes lymphadenitis MPheno.ontology MP:0003865 lymph node inflammation MP:0003865 local accumulation of fluid, plasma proteins, and leukocytes in the lymph nodes https://orcid.org/0009-0005-7755-8314 anomaly in the discharge of feces from the body abnormal defaecation MPheno.ontology MP:0003866 abnormal defecation MP:0003866 anomaly in the discharge of feces from the body https://orcid.org/0000-0003-4606-0597 increase in the amount of discharge of feces from the body increased defaecation amount MPheno.ontology MP:0003867 increased defecation amount MP:0003867 increase in the amount of discharge of feces from the body https://orcid.org/0000-0003-4606-0597 increase or decrease in the amount of compounds normally found in the feces (fat, protein etc) or presence of material not normally seen in the feces abnormal faeces composition MPheno.ontology MP:0003868 abnormal feces composition MP:0003868 increase or decrease in the amount of compounds normally found in the feces (fat, protein etc) or presence of material not normally seen in the feces https://orcid.org/0000-0003-4606-0597 positional abnormality of cartilage MPheno.ontology MP:0003869 ectopic cartilage MP:0003869 positional abnormality of cartilage https://orcid.org/0000-0003-4606-0597 a reduced amount of glucose in the urine compared to the normal state reduced urine glucose level MPheno.ontology MP:0003870 decreased urine glucose level MP:0003870 a reduced amount of glucose in the urine compared to the normal state RGD:cur https://orcid.org/0000-0003-3691-0324 any structural anomaly of the insulating envelope that surrounds nerve fibers or axons MPheno.ontology MP:0003871 abnormal myelin sheath morphology MP:0003871 any structural anomaly of the insulating envelope that surrounds nerve fibers or axons https://orcid.org/0000-0003-4606-0597 missing the lower right chamber of the heart absent pulmonary ventricle absent right ventricle MPheno.ontology MP:0003872 absent heart right ventricle MP:0003872 missing the lower right chamber of the heart https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the pharyngeal arches, typically resulting in decreased size branchial arch hypoplasia hypoplastic branchial arches MPheno.ontology decreased branchial arch cellularity MP:0003873 pharyngeal arch hypoplasia MP:0003873 decrease in the number of normal cells in normal arrangement in the pharyngeal arches, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 missing the transient structures of the embryo that develop into regions of the head, neck and ears absent branchial arches MPheno.ontology MP:0003874 absent pharyngeal arches MP:0003874 missing the transient structures of the embryo that develop into regions of the head, neck and ears https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 abnormal length of time for the onset of catagen phase of the cyclic transformation of the hair follicle MPheno.ontology MP:0003875 abnormal hair follicle regression MP:0003875 abnormal length of time for the onset of catagen phase of the cyclic transformation of the hair follicle https://orcid.org/0009-0005-7755-8314 OBSOLETE. anomalous activity of the thin layer of grey matter on the surface of the cerebral hemisphere that develops from the telencephalon and folds into gyri that is responsible for higher mental functions MPheno.ontology MP:0003876 obsolete abnormal cerebral function true MP:0003876 OBSOLETE. anomalous activity of the thin layer of grey matter on the surface of the cerebral hemisphere that develops from the telencephalon and folds into gyri that is responsible for higher mental functions MGI:cwg any structural anomaly of the neurons that secrete serotonin MPheno.ontology MP:0003877 abnormal serotonergic neuron morphology MP:0003877 any structural anomaly of the neurons that secrete serotonin J:54240 https://orcid.org/0000-0002-6490-7723 any functional anomaly of the ear, not due to an anatomical defect MPheno.ontology MP:0003878 abnormal ear physiology MP:0003878 any functional anomaly of the ear, not due to an anatomical defect https://orcid.org/0000-0003-4606-0597 any functional anomaly of the sensory epithelial cells of the inner ear MPheno.ontology MP:0003879 abnormal hair cell physiology MP:0003879 any functional anomaly of the sensory epithelial cells of the inner ear https://orcid.org/0000-0003-4606-0597 any functional anomaly of the neural networks that produce rhythmic patterned output without sensory input and underlie rhythmic motor patterns abnormal CPG function MPheno.ontology MP:0003880 abnormal central pattern generator function MP:0003880 any functional anomaly of the neural networks that produce rhythmic patterned output without sensory input and underlie rhythmic motor patterns PMID:14766172 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the filtering unit of the kidney that includes the renal corpuscle, proximal and distal convoluted tubules, and loop of Henle MPheno.ontology MP:0003881 abnormal nephron morphology MP:0003881 any structural anomaly of the filtering unit of the kidney that includes the renal corpuscle, proximal and distal convoluted tubules, and loop of Henle https://orcid.org/0000-0003-4606-0597 anomaly in the difference between systolic and diastolic blood pressure MPheno.ontology MP:0003882 abnormal pulse pressure MP:0003882 anomaly in the difference between systolic and diastolic blood pressure RGD:cur https://orcid.org/0000-0003-4606-0597 increased size of the stomach increased stomach size MPheno.ontology MP:0003883 enlarged stomach MP:0003883 increased size of the stomach https://orcid.org/0009-0005-7755-8314 fewer than the normal numbers of macrophages decreased macrophage count reduced macrophage cell number reduced macrophage count MPheno.ontology MP:0003884 decreased macrophage cell number MP:0003884 fewer than the normal numbers of macrophages MGI:acv anomaly in or failure of the long (rostral-caudal) axis of the body to elongate normally once patterning has been established abnormal rostro-caudal body axis extension MPheno.ontology MP:0003885 abnormal rostral-caudal body axis extension MP:0003885 anomaly in or failure of the long (rostral-caudal) axis of the body to elongate normally once patterning has been established MGI:brs any structural anomaly of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion abnormal EPI abnormal ectoblast morphology abnormal embryonic ectoderm morphology abnormal primary ectoderm morphology abnormal primitive ectoderm morphology MPheno.ontology MP:0003886 The epiblast cells (appearing on day 8 of human embryonic development) make up a columnar epithelium with dense microvilli on the apical surface. During gastrulation, the epiblast cells undergo epithelial-to-mesenchymal transition and delaminate to become the loose mesenchyme of the primitive streak. The epiblast is present in postimplantation mouse embryos between E5.5-E7.5. abnormal embryonic epiblast morphology MP:0003886 any structural anomaly of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion PMID:21123814 http://discovery.lifemapsc.com/in-vivo-development/epiblast/epiblast increase in the number of hepatocytes undergoing programmed cell death MPheno.ontology MP:0003887 increased hepatocyte apoptosis MP:0003887 increase in the number of hepatocytes undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 bleeding within the liver hepatic haemorrhage hepatic hemorrhage liver haemorrhage MPheno.ontology MP:0003888 liver hemorrhage MP:0003888 bleeding within the liver https://orcid.org/0000-0002-6490-7723 amplification of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI) MPheno.ontology MP:0003889 enhanced sensorimotor gating MP:0003889 amplification of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI) https://orcid.org/0000-0002-0371-1954 any structural anomaly in the delineating tissue and the segregation between the embryo proper and extraembryonic tissues MPheno.ontology MP:0003890 abnormal embryonic-extraembryonic boundary morphology MP:0003890 any structural anomaly in the delineating tissue and the segregation between the embryo proper and extraembryonic tissues MGI:brs increase in the number of cells of the allantois undergoing programmed cell death MPheno.ontology MP:0003891 increased allantois apoptosis MP:0003891 increase in the number of cells of the allantois undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the branched tubular glands in the mucosa of the fundus and body of the stomach that contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin abnormal Wassmann gland morphology abnormal fundic glands abnormal fundus gland abnormal gastric follicle abnormal oxyntic gland morphology MPheno.ontology MP:0003892 abnormal gastric gland morphology MP:0003892 any structural anomaly of any of the branched tubular glands in the mucosa of the fundus and body of the stomach that contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin https://orcid.org/0009-0005-7755-8314 increase in the expansion rate of the hepatocyte cell population by cell division MPheno.ontology MP:0003893 increased hepatocyte proliferation MP:0003893 increase in the expansion rate of the hepatocyte cell population by cell division https://orcid.org/0000-0002-6490-7723 any structural anomaly of the supply of nerve fibers that connect to the Purkinje cells MPheno.ontology MP:0003894 abnormal Purkinje cell innervation MP:0003894 any structural anomaly of the supply of nerve fibers that connect to the Purkinje cells https://orcid.org/0000-0003-4606-0597 increase in the number of ectoderm cells undergoing programmed cell death during development MPheno.ontology MP:0003895 increased ectoderm apoptosis MP:0003895 increase in the number of ectoderm cells undergoing programmed cell death during development https://orcid.org/0000-0002-6490-7723 increase in the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex prolonged PR-interval MPheno.ontology MP:0003896 prolonged PR interval MP:0003896 increase in the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex https://orcid.org/0009-0005-7755-8314 anomaly in the length of time between the end of S-wave and the beginning of T-wave; reflects the amount of time the ventricles remain electrically depolarized abnormal ST segment duration MPheno.ontology MP:0003897 abnormal ST segment MP:0003897 anomaly in the length of time between the end of S-wave and the beginning of T-wave; reflects the amount of time the ventricles remain electrically depolarized https://orcid.org/0009-0005-7755-8314 anomaly in the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction MPheno.ontology MP:0003898 The ventricles have a large muscle mass compared to the atria and so the QRS complex usually has a much larger amplitude than the P-wave. abnormal QRS complex MP:0003898 anomaly in the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction https://orcid.org/0009-0005-7755-8314 anomaly in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave MPheno.ontology MP:0003899 A prolonged QT interval is a risk factor for ventricular tachyarrhythmias and sudden death. It varies with heart rate and for clinical relevance requires a correction for this, giving the QTc. abnormal QT interval MP:0003899 anomaly in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave PMID:12114851 https://orcid.org/0000-0003-4606-0597 decrease in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave decreased QT interval reduced QT interval short QT MPheno.ontology short QT syndrome MP:0003900 shortened QT interval MP:0003900 decrease in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave PMID:12114851 https://orcid.org/0000-0003-4606-0597 anomaly in the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex MPheno.ontology MP:0003901 The PR interval is measured from the beginning of the P wave to the beginning of the QRS complex. The PR interval reflects the time the electrical impulse takes to travel from the sinus node through the AV node and entering the ventricles. The PR interval is therefore a good estimate of AV node function. abnormal PR interval MP:0003901 anomaly in the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex https://orcid.org/0009-0005-7755-8314 anomaly in the total physical bulk or volume of a cell compared to the normal state MPheno.ontology MP:0003902 abnormal cell mass MP:0003902 anomaly in the total physical bulk or volume of a cell compared to the normal state RGD:cur greater total physical bulk or volume of a cell compared to the normal state MPheno.ontology MP:0003903 increased cell mass MP:0003903 greater total physical bulk or volume of a cell compared to the normal state RGD:cur reduction in the total physical bulk or volume of a cell compared to the normal state reduced cell mass MPheno.ontology MP:0003904 decreased cell mass MP:0003904 reduction in the total physical bulk or volume of a cell compared to the normal state RGD:cur anomaly in the physical amount of elastin in the aorta compared to the normal state MPheno.ontology MP:0003905 abnormal aorta elastin content MP:0003905 anomaly in the physical amount of elastin in the aorta compared to the normal state RGD:cur greater physical amount of elastin in the aorta compared to the normal state MPheno.ontology MP:0003906 increased aorta elastin content MP:0003906 greater physical amount of elastin in the aorta compared to the normal state RGD:cur reduction in the physical amount of elastin in the aorta compared to the normal state reduced aorta elastin content MPheno.ontology MP:0003907 decreased aorta elastin content MP:0003907 reduction in the physical amount of elastin in the aorta compared to the normal state RGD:cur less frequent incidence of repetitive, invariant, persistent motor patterns that do not appear to be purposeful decreased stereotypic behaviour reduced stereotypic behavior reduced stereotypic behaviour MPheno.ontology MP:0003908 decreased stereotypic behavior MP:0003908 less frequent incidence of repetitive, invariant, persistent motor patterns that do not appear to be purposeful RGD:cur true MP:0003909 true MP:0003910 true MP:0003911 true MP:0003912 greater than average weight of the right ventricle compared to the average increased right ventricle weight MPheno.ontology MP:0003913 increased heart right ventricle weight MP:0003913 greater than average weight of the right ventricle compared to the average RGD:cur less than average weight of the right ventricle compared to the average decreased right ventricle weight reduced right ventricle weight MPheno.ontology MP:0003914 decreased heart right ventricle weight MP:0003914 less than average weight of the right ventricle compared to the average RGD:cur greater than average weight of the heart left ventricle compared to the average for a particular population increased left ventricle weight MPheno.ontology MP:0003915 increased heart left ventricle weight MP:0003915 greater than average weight of the heart left ventricle compared to the average for a particular population RGD:cur less than average weight of the heart left ventricle compared to the average for a particular population decreased left ventricle weight reduced left ventricle weight MPheno.ontology MP:0003916 decreased heart left ventricle weight MP:0003916 less than average weight of the heart left ventricle compared to the average for a particular population RGD:cur greater weight of the organs responsible for urine secretion MPheno.ontology MP:0003917 increased kidney weight MP:0003917 greater weight of the organs responsible for urine secretion RGD:cur reduced weight of the organs responsible for urine secretion reduced kidney weight MPheno.ontology MP:0003918 decreased kidney weight MP:0003918 reduced weight of the organs responsible for urine secretion RGD:cur OBSOLETE. anomaly in the cellular make up of the lymph nodes MPheno.ontology MP:0003919 obsolete abnormal lymph node cellularity true MP:0003919 OBSOLETE. anomaly in the cellular make up of the lymph nodes https://orcid.org/0000-0003-4606-0597 any structural anomaly of the right lower chamber of the heart Fyler:1820 abnormal RV abnormal right ventricle morphology MPheno.ontology RV abnormality MP:0003920 abnormal heart right ventricle morphology MP:0003920 any structural anomaly of the right lower chamber of the heart https://orcid.org/0000-0003-4606-0597 any structural anomaly of the left lower chamber of the heart Fyler:1810 LV abnormality abnormal LV abnormal left ventricle morphology MPheno.ontology MP:0003921 abnormal heart left ventricle morphology MP:0003921 any structural anomaly of the left lower chamber of the heart https://orcid.org/0000-0003-4606-0597 any structural anomaly of the right upper chamber of the heart Fyler:1770 abnormal right atrium morphology MPheno.ontology MP:0003922 abnormal heart right atrium morphology MP:0003922 any structural anomaly of the right upper chamber of the heart https://orcid.org/0000-0003-3691-0324 any structural anomaly of the left upper chamber of the heart Fyler:3010 abnormal left atrium morphology MPheno.ontology MP:0003923 abnormal heart left atrium morphology MP:0003923 any structural anomaly of the left upper chamber of the heart https://orcid.org/0000-0003-3691-0324 protrusion of abdominal contents into the thoracic cavity through a hole in the diaphragm herniated diaphragm congenital diaphragmatic hernia MPheno.ontology MP:0003924 diaphragmatic hernia MP:0003924 protrusion of abdominal contents into the thoracic cavity through a hole in the diaphragm https://orcid.org/0000-0003-4606-0597 anomaly in the ability of a cell to take in glucose from the environment abnormal cellular glucose import MPheno.ontology MP:0003925 abnormal cellular glucose uptake MP:0003925 anomaly in the ability of a cell to take in glucose from the environment RGD:cur reduced ability of a cell to take in glucose from the environment impaired cellular glucose import impaired cellular glucose uptake MPheno.ontology MP:0003926 decreased cellular glucose uptake MP:0003926 reduced ability of a cell to take in glucose from the environment RGD:cur increased ability of a cell to take in glucose from the environment enhanced cellular glucose import improved cellular glucose uptake MPheno.ontology MP:0003927 increased cellular glucose import MP:0003927 increased ability of a cell to take in glucose from the environment RGD:cur increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle increased HRV increased heart rate variation increased respiratory sinus arrhythmia MPheno.ontology MP:0003928 Heart rate variability (HRV) is the variation of beat-to-beat intervals. A healthy heart has a large HRV, while decreased or absent variability may indicate cardiac disease. HRV also decreases with exercise-induced tachycardia. Heart rate variability (HRV) refers to the beat-to-beat alterations in heart rate. Under resting conditions, the ECG of healthy individuals exhibits periodic variation in R-R intervals. This rhythmic phenomenon, known as respiratory sinus arrhythmia (RSA), fluctuates with the phase of respiration -- cardio-acceleration during inspiration, and cardio-deceleration during expiration. RSA is predominantly mediated by respiratory gating of parasympathetic efferent activity to the heart: vagal efferent traffic to the sinus node occurs primarily in phase with expiration and is absent or attenuated during inspiration. The major reason for the interest in measuring HRV stems from its ability to predict survival after heart attack. Over half a dozen prospective studies have shown that reduced HRV predicts sudden death in patients with MI, independent of other prognostic indicators such as ejection fraction. Reduced HRV appears to be a marker of fatal ventricular arrhythmia. Moreover, a small number of studies have begun to suggest that reduced HRV may predict risk of survival even among individuals free of CHD. increased heart rate variability MP:0003928 increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle RGD:cur reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle decreased HRV decreased heart rate variation decreased respiratory sinus arrhythmia reduced HRV reduced heart rate variation MPheno.ontology reduced heart rate variability MP:0003929 Heart rate variability (HRV) is the variation of beat-to-beat intervals. A healthy heart has a large HRV, while decreased or absent variability may indicate cardiac disease. HRV also decreases with exercise-induced tachycardia. Heart rate variability (HRV) refers to the beat-to-beat alterations in heart rate. Under resting conditions, the ECG of healthy individuals exhibits periodic variation in R-R intervals. This rhythmic phenomenon, known as respiratory sinus arrhythmia (RSA), fluctuates with the phase of respiration -- cardio-acceleration during inspiration, and cardio-deceleration during expiration. RSA is predominantly mediated by respiratory gating of parasympathetic efferent activity to the heart: vagal efferent traffic to the sinus node occurs primarily in phase with expiration and is absent or attenuated during inspiration. The major reason for the interest in measuring HRV stems from its ability to predict survival after heart attack. Over half a dozen prospective studies have shown that reduced HRV predicts sudden death in patients with MI, independent of other prognostic indicators such as ejection fraction. Reduced HRV appears to be a marker of fatal ventricular arrhythmia. Moreover, a small number of studies have begun to suggest that reduced HRV may predict risk of survival even among individuals free of CHD. decreased heart rate variability MP:0003929 reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle RGD:cur any structural anomaly of the hard portion of the tooth surrounding the pulp, including the dentin, enamel and the cementum on the root abnormal odontoid tissue morphology MPheno.ontology MP:0003930 abnormal tooth hard tissue morphology MP:0003930 any structural anomaly of the hard portion of the tooth surrounding the pulp, including the dentin, enamel and the cementum on the root https://orcid.org/0000-0003-3691-0324 absence of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface MPheno.ontology MP:0003931 absent molars MP:0003931 absence of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface MESH:A14.549.167.860.525 any structural anomaly of the part of a molar that is covered by enamel MPheno.ontology MP:0003932 abnormal molar crown morphology MP:0003932 any structural anomaly of the part of a molar that is covered by enamel ISBN:0-683-40008-8 any strucutral anomaly in the bonelike rigid connective tissue covering the root of a tooth abnormal dental cementum MPheno.ontology MP:0003933 abnormal cementum morphology MP:0003933 any strucutral anomaly in the bonelike rigid connective tissue covering the root of a tooth MESH:A14.549.167.646.267 anomaly in the formation of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream abnormal pancreatogenesis pancreas dysgenesis pancreatic dysgenesis MPheno.ontology MP:0003934 abnormal pancreas development MP:0003934 anomaly in the formation of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream https://orcid.org/0000-0003-4606-0597 anomaly in the process of forming the face and/or cranium MPheno.ontology MP:0003935 abnormal craniofacial development MP:0003935 anomaly in the process of forming the face and/or cranium https://orcid.org/0000-0003-3691-0324 developmental anomaly of any of the organs involved in the reproductive system MPheno.ontology MP:0003936 abnormal reproductive system development MP:0003936 developmental anomaly of any of the organs involved in the reproductive system https://orcid.org/0000-0003-3691-0324 OBSOLETE. anomaly of the formation of the digits, autopod, limbs, or tail MPheno.ontology MP:0003937 obsolete abnormal limbs/digits/tail development true MP:0003937 OBSOLETE. anomaly of the formation of the digits, autopod, limbs, or tail https://orcid.org/0000-0003-3691-0324 developmental anomaly of any of the structures involved in the ear or vestibular system MPheno.ontology MP:0003938 abnormal ear development MP:0003938 developmental anomaly of any of the structures involved in the ear or vestibular system https://orcid.org/0000-0003-3691-0324 any structural anomaly of the mesoderm that is derived from the somite that is fated to become the musculature MPheno.ontology MP:0003939 abnormal myotome morphology MP:0003939 any structural anomaly of the mesoderm that is derived from the somite that is fated to become the musculature https://orcid.org/0000-0003-3691-0324 any structural anomaly in the mesoderm that is derived from the somite that is fated to become the dermis MPheno.ontology MP:0003940 abnormal dermatome morphology MP:0003940 any structural anomaly in the mesoderm that is derived from the somite that is fated to become the dermis https://orcid.org/0000-0003-3691-0324 anomaly in the formation of the membranous protective covering of the body MPheno.ontology MP:0003941 abnormal skin development MP:0003941 anomaly in the formation of the membranous protective covering of the body https://orcid.org/0000-0003-3691-0324 any anomaly in the differentiation of the organ system that produces, stores, and eliminates urine MPheno.ontology MP:0003942 abnormal urinary system development MP:0003942 any anomaly in the differentiation of the organ system that produces, stores, and eliminates urine https://orcid.org/0000-0003-3691-0324 developmental anomaly of any of the tissues of the liver or biliary system abnormal liver/biliary system development MPheno.ontology MP:0003943 abnormal hepatobiliary system development MP:0003943 developmental anomaly of any of the tissues of the liver or biliary system https://orcid.org/0000-0003-3691-0324 deviation from the standard ratios of T cell subpopulations (e.g. double positive to single positive ratio) compared to control samples MPheno.ontology MP:0003944 abnormal T cell subpopulation ratio MP:0003944 deviation from the standard ratios of T cell subpopulations (e.g. double positive to single positive ratio) compared to control samples MGI:mberry any functional anomaly of any of the white blood cells that includes B cells, T cells, and NK cells MPheno.ontology MP:0003945 abnormal lymphocyte physiology MP:0003945 any functional anomaly of any of the white blood cells that includes B cells, T cells, and NK cells https://orcid.org/0009-0005-7755-8314 morphological changes resulting from pathological death of renal tissue; usually due to irreversible damage kidney necrosis necrotic kidney necrotic kidneys MPheno.ontology MP:0003946 renal necrosis MP:0003946 morphological changes resulting from pathological death of renal tissue; usually due to irreversible damage https://orcid.org/0000-0002-6490-7723 anomaly in the amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MPheno.ontology MP:0003947 abnormal cholesterol level MP:0003947 anomaly in the amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues https://orcid.org/0000-0003-3691-0324 anomaly in the processes involved in the maintenance of an internal equilibrium of gaseous elements in animal tissues or blood MPheno.ontology MP:0003948 abnormal gas homeostasis MP:0003948 anomaly in the processes involved in the maintenance of an internal equilibrium of gaseous elements in animal tissues or blood https://orcid.org/0000-0003-3691-0324 anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the blood dyslipidaemia dyslipidemia MPheno.ontology MP:0003949 abnormal circulating lipid level MP:0003949 anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the blood ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the semi-permeable membrane that encloses the cytoplasm of a cell abnormal cell membrane morphology MPheno.ontology MP:0003950 abnormal plasma membrane morphology MP:0003950 any structural anomaly of the semi-permeable membrane that encloses the cytoplasm of a cell https://orcid.org/0009-0005-7755-8314 anomaly in the processes involved in the maintenance of an internal equilibrium of copper that is a cofactor in a number of proteins including amine oxidases and chaperone proteins MPheno.ontology MP:0003951 abnormal copper homeostasis MP:0003951 anomaly in the processes involved in the maintenance of an internal equilibrium of copper that is a cofactor in a number of proteins including amine oxidases and chaperone proteins https://orcid.org/0000-0003-3691-0324 anomaly in the concentration in the body of the metallic element atom that has formula Cu, and normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins MPheno.ontology MP:0003952 abnormal copper level MP:0003952 anomaly in the concentration in the body of the metallic element atom that has formula Cu, and normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins CHEBI:28694 https://orcid.org/0000-0003-3691-0324 aberrant tissue or circulating concentration of any substance, usually a peptide or steroid, that has a specific metabolic regulatory effect on the activity or behavior of cells expressing a receptor for the hormone MPheno.ontology MP:0003953 abnormal hormone level MP:0003953 aberrant tissue or circulating concentration of any substance, usually a peptide or steroid, that has a specific metabolic regulatory effect on the activity or behavior of cells expressing a receptor for the hormone MESH:D06.472 any structural anomaly of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm; required for the maternofetal exchange of nutrients and is important for the postgastrulation development MPheno.ontology MP:0003954 abnormal Reichert's membrane morphology MP:0003954 any structural anomaly of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm; required for the maternofetal exchange of nutrients and is important for the postgastrulation development https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the outpocketing of the caudal-most branchial pouch of the embryo (interpreted as a fifth pouch in human or as the ventral component of the fourth pouch in mouse) that fuses with the thyroid diverticulum, ultimately giving rise to calcitonin-producing parafollicular cells (aka C-cells) which function in calcium homeostasis; in most mammals, these parafollicular cells fully disperse with the endodermally derived follicular cells of the thyroid by birth abnormal corpus ultimopharyngeum morphology abnormal postbranchial body morphology abnormal telobranchial body morphology abnormal telopharyngeal body morphology abnormal ultimobranchial gland morphology abnormal ultimopharyngeal body morphology abnormal ultimopharyngeal gland morphology MPheno.ontology MP:0003955 abnormal ultimobranchial body morphology MP:0003955 any structural anomaly of the outpocketing of the caudal-most branchial pouch of the embryo (interpreted as a fifth pouch in human or as the ventral component of the fourth pouch in mouse) that fuses with the thyroid diverticulum, ultimately giving rise to calcitonin-producing parafollicular cells (aka C-cells) which function in calcium homeostasis; in most mammals, these parafollicular cells fully disperse with the endodermally derived follicular cells of the thyroid by birth PMID:20144910 anomaly in the average body weight, height and/or length of an organism compared to controls MPheno.ontology MP:0003956 abnormal body size MP:0003956 anomaly in the average body weight, height and/or length of an organism compared to controls https://orcid.org/0000-0003-3691-0324 anomaly in the processes involved in the maintenance of an internal equilibrium of nitric oxide, a free radical gas and a potent vasodilator abnormal endothelium derived relaxation factor homeostasis MPheno.ontology MP:0003957 abnormal nitric oxide homeostasis MP:0003957 anomaly in the processes involved in the maintenance of an internal equilibrium of nitric oxide, a free radical gas and a potent vasodilator https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in any of the heart valves, typically resulting in increased size hyperplastic cardiac valves hyperplastic heart valves MPheno.ontology MP:0003958 heart valve hyperplasia MP:0003958 increase in the number of normal cells in normal arrangement in any of the heart valves, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 anomaly in the amount of the fat-free physical bulk or volume of the body including all its components except adipose tissue MPheno.ontology MP:0003959 abnormal lean body mass MP:0003959 anomaly in the amount of the fat-free physical bulk or volume of the body including all its components except adipose tissue https://orcid.org/0000-0003-3691-0324 greater amount of the fat-free physical bulk or volume of the body including all its components except adipose (fat) tissue MPheno.ontology MP:0003960 increased lean body mass MP:0003960 greater amount of the fat-free physical bulk or volume of the body including all its components except adipose (fat) tissue https://orcid.org/0000-0003-3691-0324 reduced amount of the fat-free physical bulk or volume of the body including all its components except adipose (fat) tissue reduced lean body mass MPheno.ontology MP:0003961 decreased lean body mass MP:0003961 reduced amount of the fat-free physical bulk or volume of the body including all its components except adipose (fat) tissue https://orcid.org/0000-0003-3691-0324 aberrant concentration in the blood or tissues of this catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels MP:0003835 abnormal epinephrine level MPheno.ontology MP:0003962 abnormal adrenaline level MP:0003962 aberrant concentration in the blood or tissues of this catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels MESH:D02.033.100.291.310 https://orcid.org/0000-0002-0371-1954 anomalous blood or tissue amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion MP:0003837 abnormal adrenal corticosterone level MPheno.ontology MP:0003963 abnormal corticosterone level MP:0003963 anomalous blood or tissue amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion ISBN:0-683-40008-8 https://orcid.org/0000-0003-4606-0597 aberrant amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine MP:0003836 abnormal adrenal noradrenaline level abnormal adrenal norepinephrine level abnormal norepinephrine level MPheno.ontology MP:0003964 abnormal noradrenaline level MP:0003964 aberrant amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine ISBN:0198506732 aberration in the blood or tissue concentration of any of the hormones secreted by the pituitary MP:0005125 MPheno.ontology MP:0003965 abnormal pituitary hormone level MP:0003965 aberration in the blood or tissue concentration of any of the hormones secreted by the pituitary MGI:cwg anomaly in the level of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex abnormal levels of ACTH abnormal levels of adrenocorticotropic hormone abnormal levels of adrenocorticotropin abnormal levels of adrenotropic hormone abnormal levels of adrenotropin MPheno.ontology MP:0003966 abnormal adrenocorticotropin level MP:0003966 anomaly in the level of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex ISBN:0-683-40008-8 anomalous concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis abnormal FSH level abnormal follitropin level MPheno.ontology MP:0003967 abnormal follicle stimulating hormone level MP:0003967 anomalous concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis ISBN:0-683-40008-8 abnormal FSH level MESH:D06.472.699.322.576.288 abnormal follitropin level MESH:D06.472.699.322.576.288 anomalous concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization abnormal GH level abnormal pituitary growth hormone level abnormal somatotropic hormone level abnormal somatotropin level MPheno.ontology MP:0003968 abnormal growth hormone level MP:0003968 anomalous concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization ISBN:0-683-40008-8 abnormal pituitary growth hormone level MESH:D06.472.699.631.525.425 abnormal somatotropic hormone level MESH:D06.472.699.631.525.425 abnormal somatotropin level MESH:D06.472.699.631.525.425 aberrant levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary abnormal ICSH level abnormal LH level abnormal interstitial cell-stimulating hormone level abnormal luteinising hormone level abnormal lutropin level MPheno.ontology MP:0003969 abnormal luteinizing hormone level MP:0003969 aberrant levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary MESH:D06.472.699.322.576.463 https://orcid.org/0000-0002-0371-1954 abnormal ICSH level MESH:D06.472.699.322.576.463 abnormal LH level MESH:D06.472.699.322.576.463 abnormal interstitial cell-stimulating hormone level MESH:D06.472.699.322.576.463 abnormal lutropin level MESH:D06.472.699.322.576.463 anomalous concentration of the hormone that stimulates milk secretion abnormal PRL level abnormal galactopoietic hormone level abnormal lactation hormone level abnormal lactogenic hormone level abnormal lactotropin level abnormal mammotropic factor level abnormal mammotropic hormone level abnormal mammotropin level MPheno.ontology MP:0003970 abnormal prolactin level MP:0003970 anomalous concentration of the hormone that stimulates milk secretion ISBN:0-683-40008-8 abnormal PRL level MESH:D06.472.699.322.576.773 abnormal lactogenic hormone level MESH:D06.472.699.322.576.773 abnormal mammotropic hormone level MESH:D06.472.699.322.576.773 abnormal mammotropin level MESH:D06.472.699.322.576.773 anomalous concentration of the hormone that stimulates the growth and function of the thyroid gland abnormal TSH level abnormal thyropic hormone level abnormal thyrotrophin level abnormal thyrotropin level MPheno.ontology MP:0003971 abnormal thyroid-stimulating hormone level MP:0003971 anomalous concentration of the hormone that stimulates the growth and function of the thyroid gland ISBN:0-683-40008-8 less than the expected amount of any of the pituitary hormones in the blood or tissues MP:0005126 decreased pituitary levels of pituitary hormone reduced pituitary hormone level MPheno.ontology MP:0003972 decreased pituitary hormone level MP:0003972 less than the expected amount of any of the pituitary hormones in the blood or tissues MGI:cwg greater than the expected amount of any of the pituitary hormones in the blood or tissues MP:0005127 increased pituitary levels of pituitary hormone MPheno.ontology MP:0003973 increased pituitary hormone level MP:0003973 greater than the expected amount of any of the pituitary hormones in the blood or tissues MGI:cwg any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the heart MPheno.ontology MP:0003974 abnormal endocardium morphology MP:0003974 any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the heart MESH:A07.541.207 https://orcid.org/0000-0003-4606-0597 higher than average concentration in the blood of very low density lipoprotein, which normally transports triglycerides from the intestine and liver to muscle and adipose tissue MPheno.ontology MP:0003975 increased circulating VLDL triglyceride level MP:0003975 higher than average concentration in the blood of very low density lipoprotein, which normally transports triglycerides from the intestine and liver to muscle and adipose tissue MGI:brs lower than average concentration in the blood of very low density lipoprotein, which normally transports triglycerides from the intestine and liver to muscle and adipose tissue reduced circulating VLDL triglyceride level MPheno.ontology MP:0003976 decreased circulating VLDL triglyceride level MP:0003976 lower than average concentration in the blood of very low density lipoprotein, which normally transports triglycerides from the intestine and liver to muscle and adipose tissue MGI:brs aberrant concentration in the blood of carnitine, a quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane MPheno.ontology MP:0003977 abnormal circulating carnitine level MP:0003977 aberrant concentration in the blood of carnitine, a quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane MGI:brs lower than normal blood concentration of this quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane reduced circulating carnitine level MPheno.ontology MP:0003978 decreased circulating carnitine level MP:0003978 lower than normal blood concentration of this quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane MGI:brs greater than normal blood concentration of this quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane MPheno.ontology MP:0003979 increased circulating carnitine level MP:0003979 greater than normal blood concentration of this quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane MGI:brs greater concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group MPheno.ontology MP:0003980 increased circulating phospholipid level MP:0003980 greater concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group RGD:cur https://orcid.org/0000-0003-4606-0597 reduced concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group reduced circulating phospholipid level MPheno.ontology MP:0003981 decreased circulating phospholipid level MP:0003981 reduced concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group RGD:cur https://orcid.org/0000-0003-4606-0597 greater than normal amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MPheno.ontology MP:0003982 increased cholesterol level MP:0003982 greater than normal amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues https://orcid.org/0000-0003-3691-0324 less than normal amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues reduced cholesterol level MPheno.ontology MP:0003983 decreased cholesterol level MP:0003983 less than normal amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues https://orcid.org/0000-0003-3691-0324 slow or limited development during the embryonic period (sensu Mus: up to E14, or the completion of organogenesis) MP:0001692 delayed embryonic development MPheno.ontology MP:0003984 embryonic growth retardation MP:0003984 slow or limited development during the embryonic period (sensu Mus: up to E14, or the completion of organogenesis) https://orcid.org/0000-0003-3691-0324 formation of fibrous tissue in the kidney as a result of repair or a reactive process kidney fibrosis MPheno.ontology MP:0003985 renal fibrosis MP:0003985 formation of fibrous tissue in the kidney as a result of repair or a reactive process https://orcid.org/0000-0003-3691-0324 reduced size of the cochlear ganglion or of the sensory neuron cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve) MPheno.ontology MP:0003986 small cochlear ganglion MP:0003986 reduced size of the cochlear ganglion or of the sensory neuron cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve) https://orcid.org/0009-0005-7755-8314 reduced size of the vestibular ganglion or of the sensory neuron cell bodies associated with the eighth cranial nerve small Scarpa ganglion MPheno.ontology MP:0003987 small vestibular ganglion MP:0003987 reduced size of the vestibular ganglion or of the sensory neuron cell bodies associated with the eighth cranial nerve https://orcid.org/0009-0005-7755-8314 a lack of the regular arrangement of any embryonic tissues disorganised embryonic tissue MPheno.ontology MP:0003988 disorganized embryonic tissue MP:0003988 a lack of the regular arrangement of any embryonic tissues J:58080 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae MPheno.ontology MP:0003989 abnormal barrel cortex morphology MP:0003989 any structural anomaly of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae https://orcid.org/0009-0005-7755-8314 reduced production or release of endogenous signaling molecules normally secreted by neurons that alter the behavior of neurons or effector cells reduced neurotransmitter release MPheno.ontology MP:0003990 decreased neurotransmitter release MP:0003990 reduced production or release of endogenous signaling molecules normally secreted by neurons that alter the behavior of neurons or effector cells https://orcid.org/0000-0003-3691-0324 thickening, hardening and/or loss of elasticity of the walls of arteries arterial sclerosis vascular sclerosis MPheno.ontology MP:0003991 arteriosclerosis MP:0003991 thickening, hardening and/or loss of elasticity of the walls of arteries MESH:C14.907.137.126 greater sensitivity to doses of ionizing radiation that include ultraviolet light, X-rays, or gamma rays, resulting in death MPheno.ontology MP:0003992 increased mortality induced by ionizing radiation MP:0003992 greater sensitivity to doses of ionizing radiation that include ultraviolet light, X-rays, or gamma rays, resulting in death https://orcid.org/0009-0005-7755-8314 any structural anomaly of the anterior bundle of nerves emerging from the spinal cord to join with the posterior/dorsal nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves abnormal anterior root morphology abnormal ventral root morphology MPheno.ontology MP:0003993 abnormal ventral spinal root morphology MP:0003993 any structural anomaly of the anterior bundle of nerves emerging from the spinal cord to join with the posterior/dorsal nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves MGI:brs any structural anomaly of the posterior bundle of nerves emerging from the spinal cord to join with the anterior/ventral nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves abnormal dorsal root morphology abnormal posterior root morphology MPheno.ontology MP:0003994 abnormal dorsal spinal root morphology MP:0003994 any structural anomaly of the posterior bundle of nerves emerging from the spinal cord to join with the anterior/ventral nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves MGI:brs any structural anomaly of the branch of the internal iliac artery that supplies the uterus and the upper part of the vagina abnormal metral artery morphology MPheno.ontology MP:0003995 abnormal uterine artery morphology MP:0003995 any structural anomaly of the branch of the internal iliac artery that supplies the uterus and the upper part of the vagina https://orcid.org/0009-0005-7755-8314 increased number or decreased threshold for the induction of a seizure characterized by unilateral or bilateral rhythmic jerking movements of the arms and legs caused by alternating contraction and relaxation of muscle MPheno.ontology MP:0003996 clonic seizures MP:0003996 increased number or decreased threshold for the induction of a seizure characterized by unilateral or bilateral rhythmic jerking movements of the arms and legs caused by alternating contraction and relaxation of muscle https://orcid.org/0000-0003-4606-0597 increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements grand mal seizures MPheno.ontology MP:0003997 tonic-clonic seizures MP:0003997 increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements https://orcid.org/0000-0003-4606-0597 a lower than average point at which thermal pain sensation is first detectable increased thermal nociception reduced latency in hot plate test reduced thermal nociceptive threshold thermal hyperalgesia MPheno.ontology MP:0003998 decreased thermal nociceptive threshold MP:0003998 a lower than average point at which thermal pain sensation is first detectable https://orcid.org/0000-0003-4606-0597 increase in the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously enhanced passive avoidance behaviour improved passive avoidance behaviour MPheno.ontology improved passive avoidance behavior MP:0003999 enhanced passive avoidance behavior MP:0003999 increase in the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously https://orcid.org/0000-0003-4606-0597 decrease in or absence of the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously MPheno.ontology MP:0004000 impaired passive avoidance behavior MP:0004000 decrease in or absence of the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously https://orcid.org/0000-0003-4606-0597 reduction in the expansion rate of the hepatocyte cell population by cell division reduced hepatocyte proliferation MPheno.ontology MP:0004001 decreased hepatocyte proliferation MP:0004001 reduction in the expansion rate of the hepatocyte cell population by cell division https://orcid.org/0000-0002-6490-7723 any structural anomaly of the portion of the small intestine that extends from the duodenum to the ileum MPheno.ontology MP:0004002 abnormal jejunum morphology MP:0004002 any structural anomaly of the portion of the small intestine that extends from the duodenum to the ileum https://orcid.org/0009-0005-7755-8314 anomaly in the function of the cells that line the vasculature MPheno.ontology MP:0004003 abnormal vascular endothelial cell physiology MP:0004003 anomaly in the function of the cells that line the vasculature https://orcid.org/0000-0003-4606-0597 failure of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein (that allows oxygenated blood to bypass the developing liver) to close in adults MPheno.ontology MP:0004004 patent ductus venosus MP:0004004 failure of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein (that allows oxygenated blood to bypass the developing liver) to close in adults https://orcid.org/0000-0003-4606-0597 inability or reduced ability of intestinal smooth muscle to shorten or to develop increased tension MPheno.ontology MP:0004005 impaired contractility of intestinal smooth muscle MP:0004005 inability or reduced ability of intestinal smooth muscle to shorten or to develop increased tension https://orcid.org/0009-0005-7755-8314 inability or reduced ability of the jejunal smooth muscle to shorter or to develop increased tension MPheno.ontology MP:0004006 impaired contractility of jejunal smooth muscle MP:0004006 inability or reduced ability of the jejunal smooth muscle to shorter or to develop increased tension https://orcid.org/0009-0005-7755-8314 any structural anomaly of the blood vessels of the lung MPheno.ontology MP:0004007 abnormal lung vasculature morphology MP:0004007 any structural anomaly of the blood vessels of the lung https://orcid.org/0000-0003-4606-0597 change in the measured amplitude, current density or duration of response to stimulation of GABA receptors abnormal gamma-amino-n-butyric acid receptor currents MPheno.ontology MP:0004008 abnormal GABA-mediated receptor currents MP:0004008 change in the measured amplitude, current density or duration of response to stimulation of GABA receptors https://orcid.org/0000-0003-4606-0597 anomaly in the rate of fluid inflow to the heart during diastole compared to controls; usually measured in the left ventricle; altered filling velocity often contributes to various cardiovascular disorders MPheno.ontology MP:0004009 abnormal diastolic filling velocity MP:0004009 anomaly in the rate of fluid inflow to the heart during diastole compared to controls; usually measured in the left ventricle; altered filling velocity often contributes to various cardiovascular disorders RGD:cur greater rate of fluid inflow to the heart during diastole compared to controls; usually measured in the left ventricle; altered filling velocity often contributes to various cardiovascular disorders MPheno.ontology MP:0004010 increased diastolic filling velocity MP:0004010 greater rate of fluid inflow to the heart during diastole compared to controls; usually measured in the left ventricle; altered filling velocity often contributes to various cardiovascular disorders RGD:cur reduction in the rate of fluid inflow to the heart during diastole compared to controls; usually measured in the left ventricle; altered filling velocity often contributes to various cardiovascular disorders reduced diastolic filling velocity MPheno.ontology MP:0004011 decreased diastolic filling velocity MP:0004011 reduction in the rate of fluid inflow to the heart during diastole compared to controls; usually measured in the left ventricle; altered filling velocity often contributes to various cardiovascular disorders RGD:cur increased pulmonary pressure compared to controls MPheno.ontology MP:0004012 increased pulmonary artery pressure MP:0004012 increased pulmonary pressure compared to controls RGD:cur reduced pulmonary pressure compared to controls reduced pulmonary artery pressure MPheno.ontology MP:0004013 decreased pulmonary artery pressure MP:0004013 reduced pulmonary pressure compared to controls RGD:cur anomaly or inability of the uterus to support embryonic development abnormal metral environment MPheno.ontology MP:0004014 abnormal uterine environment MP:0004014 anomaly or inability of the uterus to support embryonic development MGI:llw2 anomaly or inability of the oviduct to support egg viability MPheno.ontology MP:0004015 abnormal oviduct environment MP:0004015 anomaly or inability of the oviduct to support egg viability MGI:llw2 a reduction in the total amount of bone tissue contained in the skeleton reduced bone mass MPheno.ontology MP:0004016 decreased bone mass MP:0004016 a reduction in the total amount of bone tissue contained in the skeleton https://orcid.org/0009-0005-7755-8314 a kidney that is split into two separate collecting systems; there may be a duplex ureter or a single ureter; may present unilaterally or bilaterally MPheno.ontology MP:0004017 duplex kidney MP:0004017 a kidney that is split into two separate collecting systems; there may be a duplex ureter or a single ureter; may present unilaterally or bilaterally MGI:rbabiuk anomaly in the processes involved in the maintenance of an internal equilibrium of galactose in the fluids and tissues MPheno.ontology MP:0004018 abnormal galactose homeostasis MP:0004018 anomaly in the processes involved in the maintenance of an internal equilibrium of galactose in the fluids and tissues https://orcid.org/0000-0003-3691-0324 anomaly in the processes involved in the maintenance of an internal equilibrium of organic substances found in food and are not synthesized by the body and are necessary in trace amounts for normal metabolic function MPheno.ontology MP:0004019 abnormal vitamin homeostasis MP:0004019 anomaly in the processes involved in the maintenance of an internal equilibrium of organic substances found in food and are not synthesized by the body and are necessary in trace amounts for normal metabolic function MESH:D27.505.696.377.605.600 https://orcid.org/0000-0003-3691-0324 abnormally high amniotic fluid volume; may result from maternal diabetes, chromosomal abnormalities or other congenital abnormalities hydramnios polyamnios polyhydramnion MPheno.ontology MP:0004020 polyhydramnios MP:0004020 abnormally high amniotic fluid volume; may result from maternal diabetes, chromosomal abnormalities or other congenital abnormalities https://orcid.org/0009-0005-7755-8314 any functional anomaly of dark adapted vision mediated by the rods abnormal scotopic response MPheno.ontology MP:0004021 abnormal rod electrophysiology MP:0004021 any functional anomaly of dark adapted vision mediated by the rods https://orcid.org/0000-0003-4606-0597 any functional anomaly of light adapted vision mediated by the cones abnormal photopic response MPheno.ontology MP:0004022 abnormal cone electrophysiology MP:0004022 any functional anomaly of light adapted vision mediated by the cones https://orcid.org/0000-0003-4606-0597 chromosome count is other than the expected diploid chromosome number MPheno.ontology MP:0004023 abnormal chromosome number MP:0004023 chromosome count is other than the expected diploid chromosome number MGI:llw2 chromosome count is not an exact multiple of the haploid number MPheno.ontology MP:0004024 aneuploidy MP:0004024 chromosome count is not an exact multiple of the haploid number ISBN:0-683-40008-8 MGI:llw2 more than two chromosome sets are present MPheno.ontology MP:0004025 polyploidy MP:0004025 more than two chromosome sets are present MGI:llw2 one chromosome missing from an otherwise diploid chromosome set MPheno.ontology MP:0004026 monosomy MP:0004026 one chromosome missing from an otherwise diploid chromosome set MGI:llw2 presence of an extra chromosome in an otherwise diploid chromosome set MPheno.ontology MP:0004027 trisomy MP:0004027 presence of an extra chromosome in an otherwise diploid chromosome set MGI:llw2 chromosome instability in the form of increased frequency of spontaneous breakage with or without rearrangements MP:0002008 MPheno.ontology MP:0004028 chromosome breakage MP:0004028 chromosome instability in the form of increased frequency of spontaneous breakage with or without rearrangements MGI:llw2 chromosome breakage due to inherent instability of chromosomes MPheno.ontology MP:0004029 spontaneous chromosome breakage MP:0004029 chromosome breakage due to inherent instability of chromosomes MGI:llw2 chromosome breakage following treatment with a DNA-damaging agent MPheno.ontology MP:0004030 induced chromosome breakage MP:0004030 chromosome breakage following treatment with a DNA-damaging agent MGI:llw2 a histological change in the islets of Langerhans characterized by edema and the infiltration of small numbers of white blood cells intra-insulitis MPheno.ontology MP:0004031 insulitis MP:0004031 a histological change in the islets of Langerhans characterized by edema and the infiltration of small numbers of white blood cells MGI:rbabiuk any structural anomaly of the indentation dividing the two ventricles, comprised of the sulcus interventricularis anterior and the sulcus interventricularis posterior abnormal interventricular sulcus morphology MPheno.ontology MP:0004032 abnormal interventricular groove morphology MP:0004032 any structural anomaly of the indentation dividing the two ventricles, comprised of the sulcus interventricularis anterior and the sulcus interventricularis posterior https://orcid.org/0000-0003-4606-0597 presence of a supernumerary, i.e., extra, tooth or teeth extra teeth hyperdontia increased number of teeth increased tooth count increased tooth number polydontia supernumerary dentition supplemental dentition supplemental teeth MPheno.ontology MP:0004033 supernumerary teeth MP:0004033 presence of a supernumerary, i.e., extra, tooth or teeth HP:0011069 https://orcid.org/0000-0002-6490-7723 the appearance of a stripe or zigzag of white fur on the ventrum MPheno.ontology MP:0004034 belly blaze MP:0004034 the appearance of a stripe or zigzag of white fur on the ventrum MGI:llw2 any structural anomaly of the small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland abnormal Rivinus gland morphology MPheno.ontology MP:0004035 abnormal sublingual gland morphology MP:0004035 any structural anomaly of the small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland MGI:hdene altered ability of the muscle to lengthen following contractions MPheno.ontology MP:0004036 abnormal muscle relaxation MP:0004036 altered ability of the muscle to lengthen following contractions https://orcid.org/0009-0005-7755-8314 greater than the normal ability of the muscle to lengthen following contractions or increase in the ability of the muscle to lengthen following contractions MPheno.ontology MP:0004037 increased muscle relaxation MP:0004037 greater than the normal ability of the muscle to lengthen following contractions or increase in the ability of the muscle to lengthen following contractions https://orcid.org/0009-0005-7755-8314 stretched or widened aperture of the luminal space of one or more of the lymphatic vessels MP:0010201 Fyler:4042 dilated lymphatic vessel dilated lymphatic vessels lymphangiectasia lymphatic vessel dilation lymphectasia telangiectasia lymphatica MPheno.ontology MP:0004038 lymphangiectasis MP:0004038 stretched or widened aperture of the luminal space of one or more of the lymphatic vessels ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 anomalous ability of the cells of the heart muscle to take in glucose MPheno.ontology MP:0004039 abnormal cardiac muscle cell glucose uptake MP:0004039 anomalous ability of the cells of the heart muscle to take in glucose https://orcid.org/0009-0005-7755-8314 a change in the likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia abnormal response to renal IRI abnormal resistance to kidney reperfusion injury abnormal susceptibility to renal ischemia/reperfusion injury altered susceptibility to kidney reperfusion injury MPheno.ontology MP:0004040 abnormal susceptibility to kidney reperfusion injury MP:0004040 a change in the likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia MGI:brs abnormal response to renal IRI PMID:37452495 abnormal susceptibility to renal ischemia/reperfusion injury PMID:37452495 an increased likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia increased response to renal IRI decreased resistance to kidney reperfusion injury increased susceptibility to renal ischemia/reperfusion injury MPheno.ontology MP:0004041 increased susceptibility to kidney reperfusion injury MP:0004041 an increased likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia MGI:brs increased response to renal IRI PMID:37452495 increased susceptibility to renal ischemia/reperfusion injury PMID:37452495 a diminished likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia decreased response to renal IRI decreased susceptibility to renal ischemia/reperfusion injury increased resistance to kidney reperfusion injury reduced susceptibility to kidney reperfusion injury MPheno.ontology MP:0004042 decreased susceptibility to kidney reperfusion injury MP:0004042 a diminished likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia MGI:brs decreased response to renal IRI PMID:37452495 decreased susceptibility to renal ischemia/reperfusion injury PMID:37452495 anomaly in the function of the buffer systems of the body in combination with the respiratory and renal systems that control the relative acidity or alkalinity of the body, as measured by the concentration of hydrogen ion MPheno.ontology MP:0004043 abnormal pH regulation MP:0004043 anomaly in the function of the buffer systems of the body in combination with the respiratory and renal systems that control the relative acidity or alkalinity of the body, as measured by the concentration of hydrogen ion https://orcid.org/0000-0003-3691-0324 a pathologic process, characterized by splitting of the media layer of the aorta, which leads to formation of a dissecting aneurysm MPheno.ontology MP:0004044 aortic dissection MP:0004044 a pathologic process, characterized by splitting of the media layer of the aorta, which leads to formation of a dissecting aneurysm https://orcid.org/0000-0002-6490-7723 anomaly in the amount of time spent at the points in the cell cycle (end of G1 phase, end of G2 phase, and during metaphase) which prevent the cell from progressing to the next phase when conditions are unfavorable MPheno.ontology MP:0004045 abnormal cell cycle checkpoint function MP:0004045 anomaly in the amount of time spent at the points in the cell cycle (end of G1 phase, end of G2 phase, and during metaphase) which prevent the cell from progressing to the next phase when conditions are unfavorable https://orcid.org/0000-0003-4606-0597 anomaly in the process of cell division including both division of the nucleus (karyokinesis) and the cytoplasm (cytokinesis) MPheno.ontology MP:0004046 abnormal mitosis MP:0004046 anomaly in the process of cell division including both division of the nucleus (karyokinesis) and the cytoplasm (cytokinesis) https://orcid.org/0000-0003-4606-0597 anomaly in one or more of the constituents of milk including protein, lipid, and/or mineral content or in the appearance of milk MPheno.ontology MP:0004047 abnormal milk composition MP:0004047 anomaly in one or more of the constituents of milk including protein, lipid, and/or mineral content or in the appearance of milk https://orcid.org/0000-0003-4606-0597 OBSOLETE. increased threshold to obtain a physiological or behavioral response to an addictive substance decreased sensitivity to addictive substance decreased susceptibility to addictive substance MPheno.ontology MP:0004048 obsolete increased resistance to addictive substance true MP:0004048 OBSOLETE. increased threshold to obtain a physiological or behavioral response to an addictive substance https://orcid.org/0000-0003-3691-0324 higher than normal incidence of cancer characterized by rapid onset of abnormal leukocyte proliferation, manifesting as a severe bleeding disorder from coagulation abnormalities, and bone marrow infiltration of abnormal promyelocytes and myelocytes increased acute promyelocytic leukaemia incidence MPheno.ontology acute promyelocytic leukaemia acute promyelocytic leukemia MP:0004049 increased acute promyelocytic leukemia incidence MP:0004049 higher than normal incidence of cancer characterized by rapid onset of abnormal leukocyte proliferation, manifesting as a severe bleeding disorder from coagulation abnormalities, and bone marrow infiltration of abnormal promyelocytes and myelocytes ISBN:0-683-40008-8 any anomaly in the stimulation transmitted by the sympathetic nerves to the kidneys that is primarily adrenergic and modifies kidney function abnormal RSNA MPheno.ontology MP:0004050 abnormal renal sympathetic nerve activity MP:0004050 any anomaly in the stimulation transmitted by the sympathetic nerves to the kidneys that is primarily adrenergic and modifies kidney function PMID:29651418 elevation in the stimulation transmitted by the sympathetic nerves to the kidneys that is primarily adrenergic and modifies kidney function elevated RSNA MPheno.ontology MP:0004051 increased renal sympathetic nerve activity MP:0004051 elevation in the stimulation transmitted by the sympathetic nerves to the kidneys that is primarily adrenergic and modifies kidney function PMID:29651418 reduction in the stimulation transmitted by the sympathetic nerves to the kidneys that is primarily adrenergic and modifies kidney function reduced RSNA reduced renal sympathetic nerve activity MPheno.ontology MP:0004052 decreased renal sympathetic nerve activity MP:0004052 reduction in the stimulation transmitted by the sympathetic nerves to the kidneys that is primarily adrenergic and modifies kidney function PMID:29651418 anomalous or persistent cartilaginous fusion of two bones MPheno.ontology MP:0004053 abnormal synchondrosis MP:0004053 anomalous or persistent cartilaginous fusion of two bones https://orcid.org/0000-0003-4606-0597 any structural anomaly of the mesenchymal cells that give rise to the corneal endothelium, corneal stroma, sclera, iris stroma, ciliary muscle, ciliary stroma, and trabecular meshwork of the eye MPheno.ontology MP:0004054 abnormal periocular mesenchyme morphology MP:0004054 any structural anomaly of the mesenchymal cells that give rise to the corneal endothelium, corneal stroma, sclera, iris stroma, ciliary muscle, ciliary stroma, and trabecular meshwork of the eye https://orcid.org/0000-0003-4606-0597 decrease in the number of normal cells in normal arrangement in the heart atrium, typically resulting in decreased size atria hypoplasia cardiac atrial hypoplasia hypoplastic atria MPheno.ontology MP:0004055 heart atrium hypoplasia MP:0004055 decrease in the number of normal cells in normal arrangement in the heart atrium, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the outer, dense layer of the myocardium uniting the epicardium and myocardium MP:0010550 abnormal compact subepicardial layer morphology abnormal heart compact layer abnormal myocardial compact layer morphology abnormal subepicardial layer morphology abnormal subepicardium morphology MPheno.ontology abnormal compact subepicardial myocardium morphology abnormal subepicardium layer morphology MP:0004056 Note that the synonyms "subepicardium layer" and "subepicardial layer" are used in older literature to refer to the myocardium compact layer. abnormal myocardium compact layer morphology MP:0004056 any structural anomaly of the outer, dense layer of the myocardium uniting the epicardium and myocardium http://www.dorlands.com/ https://orcid.org/0000-0002-6490-7723 reduced thickness of the outer, dense layer of the myocardium thin myocardial compact layer MPheno.ontology MP:0004057 thin myocardium compact layer MP:0004057 reduced thickness of the outer, dense layer of the myocardium https://orcid.org/0000-0002-6490-7723 any structural anomaly of one of the group of myocardial bundles which terminate in the chordae tendineae that attach to the cusps of the atrioventricular valves; each ventricle has an anterior and a posterior papillary muscle; the right ventricle sometimes has a septal papillary muscle MP:0004059 abnormal musculus papillaris morphology abnormal ventricular papillary muscle morphology dysplastic papillary muscle papillary muscle dysplasia MPheno.ontology MP:0004058 abnormal ventricle papillary muscle morphology MP:0004058 any structural anomaly of one of the group of myocardial bundles which terminate in the chordae tendineae that attach to the cusps of the atrioventricular valves; each ventricle has an anterior and a posterior papillary muscle; the right ventricle sometimes has a septal papillary muscle https://orcid.org/0000-0002-6490-7723 true MP:0004059 absence of one of the group of myocardial bundles which terminate in the chordae tendineae that attach to the cusps of the atrioventricular valves; each ventricle has an anterior and a posterior papillary muscle; the right ventricle sometimes has a septal papillary muscle MPheno.ontology MP:0004060 absent papillary muscle MP:0004060 absence of one of the group of myocardial bundles which terminate in the chordae tendineae that attach to the cusps of the atrioventricular valves; each ventricle has an anterior and a posterior papillary muscle; the right ventricle sometimes has a septal papillary muscle https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the papillary muscle, typically resulting in decreased size hypoplastic papillary muscle MPheno.ontology MP:0004061 papillary muscle hypoplasia MP:0004061 decrease in the number of normal cells in normal arrangement in the papillary muscle, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 the luminal space of the right upper chamber of the heart is increased in volume or area, usually with an increase in contained fluid Fyler:2859 cardiac right atrial dilation cardiac right atrium dilation dilated cardiac right atria dilated cardiac right atrium dilated heart right atria heart right atrium dilation right atrial dilation MPheno.ontology MP:0004062 dilated heart right atrium MP:0004062 the luminal space of the right upper chamber of the heart is increased in volume or area, usually with an increase in contained fluid https://orcid.org/0000-0002-6490-7723 the luminal space of the left upper chamber of the heart is increased in volume or area, usually with an increase in contained fluid Fyler:3020 cardiac left atrial dilation cardiac left atrium dilation dilated cardiac left atria dilated cardiac left atrium dilated heart left atria heart left atrial dilation left atrium dilation MPheno.ontology MP:0004063 dilated heart left atrium MP:0004063 the luminal space of the left upper chamber of the heart is increased in volume or area, usually with an increase in contained fluid https://orcid.org/0000-0002-6490-7723 less than expected wasting of muscle tissue after experimental manipulation (starvation, neurectomy, immobilization, etc) increased resistance to induced muscular atrophy MPheno.ontology MP:0004064 decreased susceptibility to induced muscular atrophy MP:0004064 less than expected wasting of muscle tissue after experimental manipulation (starvation, neurectomy, immobilization, etc) https://orcid.org/0000-0003-4606-0597 greater than expected wasting of muscle tissue after experimental manipulation (starvation, neurectomy, immobilization, etc) decreased resistance to induced muscular atrophy MPheno.ontology MP:0004065 increased susceptibility to induced muscular atrophy MP:0004065 greater than expected wasting of muscle tissue after experimental manipulation (starvation, neurectomy, immobilization, etc) https://orcid.org/0000-0003-4606-0597 any structural anomaly of the regional thickening of cells at the rostral tip of the vertebrate primitive streak through which gastrulating cells migrate anteriorly to form tissues in the future head and neck; this region organizes the formation of the three embryonic layers and establishes the longitudinal axis and the polarity of the embryo abnormal embryonic node morphology abnormal primitive knot morphology abnormal prochordal knot morphology MPheno.ontology abnormal Hensen's node morphology abnormal Henson's node morphology abnormal Spemann's organizer morphology MP:0004066 abnormal primitive node morphology MP:0004066 any structural anomaly of the regional thickening of cells at the rostral tip of the vertebrate primitive streak through which gastrulating cells migrate anteriorly to form tissues in the future head and neck; this region organizes the formation of the three embryonic layers and establishes the longitudinal axis and the polarity of the embryo https://orcid.org/0000-0003-3691-0324 any structural anomaly of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart abnormal columnae carneae morphology abnormal fleshy beams abnormal ventricular trabeculae morphology MPheno.ontology abnormal Rathke bundle morphology MP:0004067 abnormal trabecula carnea morphology MP:0004067 any structural anomaly of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart https://orcid.org/0009-0005-7755-8314 stretched or widened aperture of the luminal space of one or both of the pair of arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation dilated dorsal aortae dilated dorsal aortas dorsal aorta dilation MPheno.ontology MP:0004068 dilated dorsal aorta MP:0004068 stretched or widened aperture of the luminal space of one or both of the pair of arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation https://orcid.org/0000-0003-3691-0324 any structural anomaly of the sensory organs in muscle that are involved in the stretch reflex abnormal Kuhne spindle abnormal neuromuscular spindle morphology MPheno.ontology MP:0004069 abnormal muscle spindle morphology MP:0004069 any structural anomaly of the sensory organs in muscle that are involved in the stretch reflex ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 any anomaly in the P wave which represents atrial depolarization and corresponds to electrical impulses rather than mechanical atria contractions; irregular or absent P waves may indicate arrhythmia and the shape of the P waves may indicate atrial problems MPheno.ontology MP:0004070 abnormal P wave MP:0004070 any anomaly in the P wave which represents atrial depolarization and corresponds to electrical impulses rather than mechanical atria contractions; irregular or absent P waves may indicate arrhythmia and the shape of the P waves may indicate atrial problems https://orcid.org/0000-0002-6490-7723 increase in the length of time of the P wave electrical impulses, measured from the beginning to the end of the P wave increased P wave width MPheno.ontology MP:0004071 prolonged P wave MP:0004071 increase in the length of time of the P wave electrical impulses, measured from the beginning to the end of the P wave https://orcid.org/0000-0002-6490-7723 any anomaly found in the sum of all electrical currents in the heart during systole abnormal electrical axis of the heart MPheno.ontology MP:0004072 abnormal frontal plane axis MP:0004072 any anomaly found in the sum of all electrical currents in the heart during systole https://orcid.org/0000-0002-6490-7723 caudal part of body truncated; typically with the rostral portion of the body relatively normal caudal truncation(s) posterior body truncation posterior truncation(s) MPheno.ontology MP:0004073 caudal body truncation MP:0004073 caudal part of body truncated; typically with the rostral portion of the body relatively normal https://orcid.org/0000-0003-3691-0324 any structural anomaly of the progenitors of cells that sheath the axons of the peripheral nervous system abnormal Schwann cell precursors MPheno.ontology MP:0004074 abnormal Schwann cell precursor morphology MP:0004074 any structural anomaly of the progenitors of cells that sheath the axons of the peripheral nervous system https://orcid.org/0009-0005-7755-8314 fewer numbers than normal of the progenitors of cells that sheath the axons of the peripheral nervous system reduced Schwann cell precursor number MPheno.ontology MP:0004075 decreased Schwann cell precursor number MP:0004075 fewer numbers than normal of the progenitors of cells that sheath the axons of the peripheral nervous system https://orcid.org/0009-0005-7755-8314 anomaly in the conversion of the primary (honeycomb-like) vascular plexus of the yolk sac into a mature vascular network MPheno.ontology MP:0004076 abnormal vitelline vascular remodeling MP:0004076 anomaly in the conversion of the primary (honeycomb-like) vascular plexus of the yolk sac into a mature vascular network https://orcid.org/0000-0003-4606-0597 any structural anomaly of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking abnormal neostriatum morphology abnormal striate body MPheno.ontology MP:0004077 abnormal striatum morphology MP:0004077 any structural anomaly of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking ISBN:0838580343 any structural anomaly of one or both C-shaped structures that border the lateral ventricle wall and contain input neurons involved with control of voluntary movement in the brain MPheno.ontology MP:0004078 abnormal caudate nucleus morphology MP:0004078 any structural anomaly of one or both C-shaped structures that border the lateral ventricle wall and contain input neurons involved with control of voluntary movement in the brain ISBN:0-683-40008-8 ISBN:0838580343 any structural anomaly of the lens-shaped basal ganglion involved with control of voluntary movement in the brain MPheno.ontology MP:0004079 abnormal putamen morphology MP:0004079 any structural anomaly of the lens-shaped basal ganglion involved with control of voluntary movement in the brain ISBN:0838580343 any structural anomaly of the group of neurons located at the head of the caudate nucleus and anterior to the putamen; these neurons normally are involved in sensations of pleasure and reactions to addictive substances abnormal Nacc morphology abnormal accumbens nucleus morphology MPheno.ontology MP:0004080 abnormal nucleus accumbens morphology MP:0004080 any structural anomaly of the group of neurons located at the head of the caudate nucleus and anterior to the putamen; these neurons normally are involved in sensations of pleasure and reactions to addictive substances ISBN:0838580343 any structural anomaly of one of the basal ganglia involved with control of voluntary movement in the brain; consists of an external and an internal segment abnormal paleostriatum abnormal pallidum morphology MPheno.ontology MP:0004081 abnormal globus pallidus morphology MP:0004081 any structural anomaly of one of the basal ganglia involved with control of voluntary movement in the brain; consists of an external and an internal segment ISBN:0838580343 any structural anomaly in the group of nuclei that makes up the small eminence on the dorsomedial surface of the thalamus, just in front of the dorsal commissure on the lateral edge of the habenular trigone abnormal habenular nucleus morphology MPheno.ontology MP:0004082 Note that the habenula term originally denoted the stalk of the pineal gland, but now refers to the habenular nucleus, a neighboring group of neurons in the epithalamus. abnormal habenula morphology MP:0004082 any structural anomaly in the group of nuclei that makes up the small eminence on the dorsomedial surface of the thalamus, just in front of the dorsal commissure on the lateral edge of the habenular trigone https://orcid.org/0000-0003-3691-0324 greater than the normal complement of digits present on an autopod with interdigital webbing also present polydactylous syndactyly synpolydactyly MPheno.ontology MP:0004083 polysyndactyly MP:0004083 greater than the normal complement of digits present on an autopod with interdigital webbing also present MGI:rbabiuk altered ability of the cardiac/heart muscle to lengthen following contractions, often measured by dP/dt min MPheno.ontology MP:0004084 abnormal cardiac muscle relaxation MP:0004084 altered ability of the cardiac/heart muscle to lengthen following contractions, often measured by dP/dt min https://orcid.org/0009-0005-7755-8314 anomaly in the appearance of regularly spaced contractions of the heart due to defects in the frequency, rate, pattern or extent of heart contraction abnormal cardiac contraction abnormal heart beat abnormal heart beating abnormal heart contraction abnormal heart rhythm MPheno.ontology MP:0004085 abnormal heartbeat MP:0004085 anomaly in the appearance of regularly spaced contractions of the heart due to defects in the frequency, rate, pattern or extent of heart contraction https://orcid.org/0000-0003-3691-0324 lack of a spontaneously beating heart (usually due to defects in the calcium delivery mechanism or loss of a functional contractile apparatus) asystole MPheno.ontology MP:0004086 absent heartbeat MP:0004086 lack of a spontaneously beating heart (usually due to defects in the calcium delivery mechanism or loss of a functional contractile apparatus) https://orcid.org/0000-0002-6490-7723 any structural anomaly of the muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated abnormal muscle fibre morphology muscle fiber dysplasia muscle fibre dysplasia MPheno.ontology MP:0004087 abnormal muscle fiber morphology MP:0004087 any structural anomaly of the muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated https://orcid.org/0000-0003-3691-0324 any structural anomaly in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere MPheno.ontology MP:0004088 abnormal sarcoplasmic reticulum morphology MP:0004088 any structural anomaly in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere https://orcid.org/0000-0002-6490-7723 an expansion in the volume in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere sarcoplasmic reticulum dilation MPheno.ontology MP:0004089 dilated sarcoplasmic reticulum MP:0004089 an expansion in the volume in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere https://orcid.org/0000-0002-6490-7723 any structural anomaly in the segment of a myofibril between two Z lines comprised of multi-protein complexes composed of three different filament systems; these systems work together to contract and relax muscle MPheno.ontology MP:0004090 abnormal sarcomere morphology MP:0004090 any structural anomaly in the segment of a myofibril between two Z lines comprised of multi-protein complexes composed of three different filament systems; these systems work together to contract and relax muscle ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any structural anomaly in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere abnormal Z band abnormal Z disc abnormal Z disk abnormal Z line abnormal Z lines abnormal intermediate disc abnormal intermediate disk abnormal Z-line morphology MPheno.ontology MP:0004091 abnormal Z line morphology MP:0004091 any structural anomaly in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere https://orcid.org/0000-0002-6490-7723 missing the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere absent Z band absent Z disc absent Z disk absent Z lines absent Z-line MPheno.ontology MP:0004092 absent Z line MP:0004092 missing the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere https://orcid.org/0000-0002-6490-7723 widely spread cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere diffuse Z band diffuse Z disc diffuse Z disk diffuse Z lines diffuse Z-line MPheno.ontology MP:0004093 diffuse Z line MP:0004093 widely spread cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere https://orcid.org/0000-0002-6490-7723 any structural anomaly of the band in the center of the H band that contains proteins that crosslink the thick filament system (myosins) and the M-band part of the elastic filaments abnormal M band abnormal M disc abnormal M disk abnormal M line abnormal M lines abnormal mesophragma abnormal M-line morphology MPheno.ontology MP:0004094 abnormal M line morphology MP:0004094 any structural anomaly of the band in the center of the H band that contains proteins that crosslink the thick filament system (myosins) and the M-band part of the elastic filaments https://orcid.org/0000-0002-6490-7723 presence of a double row of eyelashes on an eyelid, one or both of which are turned in against the eyeball MPheno.ontology MP:0004095 ocular distichiasis MP:0004095 presence of a double row of eyelashes on an eyelid, one or both of which are turned in against the eyeball ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 anomaly in the formation of the midbrain-hindbrain domain, comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; an organizing center at the boundary patterns the midbrain and hindbrain primordia of the neural plate abnormal MHB development abnormal isthmic organizer development abnormal isthmomesencephalic boundary development abnormal isthmus development abnormal isthmus organizer development abnormal midbrain-hindbrain organizer development MPheno.ontology MP:0004096 abnormal midbrain-hindbrain boundary development MP:0004096 anomaly in the formation of the midbrain-hindbrain domain, comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; an organizing center at the boundary patterns the midbrain and hindbrain primordia of the neural plate https://orcid.org/0000-0003-3691-0324 any structural anomaly of the thin mantle of grey matter that covers the surface of each cerebral hemisphere, including the six layers of nerve cells and the nerve pathways that connect them; together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function MPheno.ontology MP:0004097 abnormal cerebellar cortex morphology MP:0004097 any structural anomaly of the thin mantle of grey matter that covers the surface of each cerebral hemisphere, including the six layers of nerve cells and the nerve pathways that connect them; together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the small neurons of the cerebellar granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites abnormal granule cell abnormal granule neuron CL:0001031 abnormal cerebellar granule neuron morphology MPheno.ontology MP:0004098 abnormal cerebellar granule cell morphology MP:0004098 any structural anomaly of the small neurons of the cerebellar granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites ISBN:0838580343 any structural anomaly of an intertwined cluster of nerve fibers surrounded by glia where mossy fibers from the pontine nuclei in the white matter synapse with granule cell axons, Golgi cell axons and unipolar brush interneuron axons abnormal cerebellar glomeruli MPheno.ontology MP:0004099 abnormal cerebellar glomerulus morphology MP:0004099 any structural anomaly of an intertwined cluster of nerve fibers surrounded by glia where mossy fibers from the pontine nuclei in the white matter synapse with granule cell axons, Golgi cell axons and unipolar brush interneuron axons ISBN:0838580343 any structural anomaly of neurons that exclusively interact with other neurons in the spinal cord MPheno.ontology MP:0004100 abnormal spinal cord interneuron morphology MP:0004100 any structural anomaly of neurons that exclusively interact with other neurons in the spinal cord https://orcid.org/0000-0003-3691-0324 any structural anomaly of neurons that exclusively interact with other neurons in the brain; this includes most brain neuronal cell types MPheno.ontology MP:0004101 abnormal brain interneuron morphology MP:0004101 any structural anomaly of neurons that exclusively interact with other neurons in the brain; this includes most brain neuronal cell types https://orcid.org/0000-0003-3691-0324 any structural anomaly of the regions of the caudate nucleus and the putamen that lie dorsal to the anterior commissure abnormal caudate putamen complex abnormal caudate-putamen morphology abnormal caudatoputamen morphology abnormal dorsal basal ganglia MPheno.ontology MP:0004102 abnormal dorsal striatum morphology MP:0004102 any structural anomaly of the regions of the caudate nucleus and the putamen that lie dorsal to the anterior commissure ISBN:0-683-40008-8 any structural anomaly of the regions of the nucleus accumbens and some nuclei of the olfactory tubercle that lie ventral to the anterior commissure MPheno.ontology MP:0004103 abnormal ventral striatum morphology MP:0004103 any structural anomaly of the regions of the nucleus accumbens and some nuclei of the olfactory tubercle that lie ventral to the anterior commissure ISBN:0-683-40008-8 true MP:0004104 scraping away or denuding of the corneal surface corneal abrasion tunica cornea abrasion MPheno.ontology MP:0004105 cornea abrasion MP:0004105 scraping away or denuding of the corneal surface https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the lymphatic vessels, typically resulting in increased size hyperplastic lymphatic vessel hyperplastic lymphatic vessels MPheno.ontology MP:0004106 lymphatic vessel hyperplasia MP:0004106 increase in the number of normal cells in normal arrangement in the lymphatic vessels, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 any structural anomaly in the largest collecting lymph vessel in the body, beginning at the cisterna chyli at about the level of the second lumbar vertebra, and drains into the systemic (blood) circulation at the left brachiocephalic vein between the left subclavian and left internal jugular veins abnormal Pecquet duct morphology abnormal Van Hoorne's canal morphology abnormal alimentary duct morphology abnormal chyliferous duct morphology abnormal ductus thoracicus morphology abnormal left lymphatic duct morphology abnormal van Horne canal morphology MPheno.ontology MP:0004107 abnormal thoracic duct morphology MP:0004107 any structural anomaly in the largest collecting lymph vessel in the body, beginning at the cisterna chyli at about the level of the second lumbar vertebra, and drains into the systemic (blood) circulation at the left brachiocephalic vein between the left subclavian and left internal jugular veins https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 altered esophageal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls that move the esophagus contents forward abnormal oesophageal peristalsis MPheno.ontology MP:0004108 abnormal esophageal peristalsis MP:0004108 altered esophageal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls that move the esophagus contents forward https://orcid.org/0000-0003-3691-0324 anomalous differentiation of cells that support germ cell differentiation in males MPheno.ontology MP:0004109 abnormal Sertoli cell development MP:0004109 anomalous differentiation of cells that support germ cell differentiation in males MGI:llw2 cardiovascular structural anomaly in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle MP:0006127 transposition of great vessels TGA discordant VA connections MPheno.ontology MP:0004110 transposition of great arteries MP:0004110 cardiovascular structural anomaly in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle https://orcid.org/0009-0005-7755-8314 any structural anomaly of any of the arteries that branch from the ascending aorta to supply blood to the heart congenital coronary anomaly Fyler:3100 coronary arterial dysplasia MPheno.ontology MP:0004111 abnormal coronary artery morphology MP:0004111 any structural anomaly of any of the arteries that branch from the ascending aorta to supply blood to the heart https://orcid.org/0009-0005-7755-8314 any structural anomaly of the small diameter vessels that branch from the arteries and lead to the capillaries MPheno.ontology MP:0004112 abnormal arteriole morphology MP:0004112 any structural anomaly of the small diameter vessels that branch from the arteries and lead to the capillaries MESH:A07.231.114.060 any structural anomaly of the convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery Fyler:2700 MA:0000475 abnormal adult aortic arch abnormal arch of aorta abnormal arch of the aorta aortic arch abnormality MPheno.ontology MP:0004113 Note that this term refers to the adult aortic arch structure. For multiple aortic arches present in the embryo, see the term for embryonic aortic arches [abnormal branchial arch artery morphology; MP:0002672]. abnormal aortic arch morphology MP:0004113 any structural anomaly of the convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery ISBN:0-683-40008-8 any structural anomaly of the small nodular mass of specialized muscle fibers located in the interatrial septum near the opening of the coronary sinus; this node gives rise to the electrical connection between the atria and ventricles and responds to the sinoatrial node abnormal A-V node abnormal AV node abnormal atrio-ventricular node MPheno.ontology MP:0004114 abnormal atrioventricular node morphology MP:0004114 any structural anomaly of the small nodular mass of specialized muscle fibers located in the interatrial septum near the opening of the coronary sinus; this node gives rise to the electrical connection between the atria and ventricles and responds to the sinoatrial node MESH:A07.541.409.147 any structural anomaly of the small mass of modified cardiac muscle fibers located at the junction of the superior vena cava and the right atrium that is the source of contraction impulses for the heart abnormal SA node abnormal SAN morphology abnormal pacemaker abnormal sinu-atrial node abnormal sinuatrial node abnormal sinus node MPheno.ontology MP:0004115 abnormal sinoatrial node morphology MP:0004115 any structural anomaly of the small mass of modified cardiac muscle fibers located at the junction of the superior vena cava and the right atrium that is the source of contraction impulses for the heart MESH:A07.541.409.819 anomaly in the transfer of cardiac electrical impulses through the specialized cardiac muscle fibers that originates in the atrioventricular node and extends into the ventricle abnormal bundle of His conduction MPheno.ontology MP:0004116 abnormal atrioventricular bundle conduction MP:0004116 anomaly in the transfer of cardiac electrical impulses through the specialized cardiac muscle fibers that originates in the atrioventricular node and extends into the ventricle MESH:A07.541.409.273 any structural anomaly of the specialized cardiac muscle fibers that originates in the atrioventricular node and extends into the ventricle abnormal Gaskell bridge morphology abnormal His band morphology abnormal His bundle abnormal Keith bundle morphology abnormal Kent bundle morphology abnormal atrioventricular band morphology abnormal bundle of His MPheno.ontology abnormal Kent-His bundle morphology MP:0004117 abnormal atrioventricular bundle morphology MP:0004117 any structural anomaly of the specialized cardiac muscle fibers that originates in the atrioventricular node and extends into the ventricle MESH:A07.541.409.273 any structural anomaly in the sensory nerve endings in the wall of the atria of the heart, vena cava, aortic arch and carotid sinus that are sensitive to changes in blood pressure abnormal pressoreceptor morphology MPheno.ontology MP:0004118 abnormal baroreceptor morphology MP:0004118 any structural anomaly in the sensory nerve endings in the wall of the atria of the heart, vena cava, aortic arch and carotid sinus that are sensitive to changes in blood pressure ISBN:0-683-40008-8 excessively low concentrations of potassium in the circulating blood; may be chronic or due to gastrointestinal and kidney depletion due to infection hypokalaemia hypopotassaemia hypopotassemia MPheno.ontology MP:0004119 hypokalemia MP:0004119 excessively low concentrations of potassium in the circulating blood; may be chronic or due to gastrointestinal and kidney depletion due to infection ISBN:0-683-40008-8 inadequate blood flow to the heart; may cause infarction and is usually caused by coronary artery disease cardiac ischaemia MPheno.ontology MP:0004120 cardiac ischemia MP:0004120 inadequate blood flow to the heart; may cause infarction and is usually caused by coronary artery disease ISBN:0-683-40008-8 any structural anomaly in the plasma membrane of a muscle fiber that is capable of conducting electrical impulses abnormal myolemma morphology MPheno.ontology MP:0004121 abnormal sarcolemma morphology MP:0004121 any structural anomaly in the plasma membrane of a muscle fiber that is capable of conducting electrical impulses ISBN:0-683-40008-8 any anomaly in the normal phenomenon of mild acceleration and slowing of the heart rate that occurs during the respiratory cycle Fyler:7011 abnormal RSA abnormal SA abnormal respiratory sinus arrythmia MPheno.ontology abnormal heart rate variability MP:0004122 abnormal sinus arrhythmia MP:0004122 any anomaly in the normal phenomenon of mild acceleration and slowing of the heart rate that occurs during the respiratory cycle https://orcid.org/0000-0003-3691-0324 any structural anomaly in the impulse-conducting system composed of modified cardiac muscle and having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart abnormal bundle of Kent abnormal heart conducting system MPheno.ontology MP:0004123 abnormal impulse conducting system morphology MP:0004123 any structural anomaly in the impulse-conducting system composed of modified cardiac muscle and having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart MESH:A07.541.409 any structural anomaly in the cardiac muscle fibers composing the terminal portion of the heart conduction system located in the ventricle abnormal Purkinje fibre morphology MPheno.ontology MP:0004124 abnormal Purkinje fiber morphology MP:0004124 any structural anomaly in the cardiac muscle fibers composing the terminal portion of the heart conduction system located in the ventricle MESH:A07.541.409.683 any structural anomaly of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins MPheno.ontology MP:0004125 abnormal venule morphology MP:0004125 any structural anomaly of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins MESH:A07.231.432.952 reduced thickness of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia MPheno.ontology MP:0004126 thin hypodermis MP:0004126 reduced thickness of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 increase in the width of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia MPheno.ontology MP:0004127 thick hypodermis MP:0004127 increase in the width of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 true MP:0004128 anomaly in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls abnormal RQ abnormal respiratory coefficient abnormal respiratory exchange ratio MPheno.ontology MP:0004129 abnormal respiratory quotient MP:0004129 anomaly in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls https://orcid.org/0000-0003-3691-0324 anomaly in the ability of muscle cells to take in glucose MPheno.ontology MP:0004130 abnormal muscle cell glucose uptake MP:0004130 anomaly in the ability of muscle cells to take in glucose https://orcid.org/0000-0003-4606-0597 any structural anomaly of the cilia of the embryo found on the cells of the embryonic node, which generate flow of extraembryonic fluid surrounding the node in a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization abnormal embryonic cilium morphology abnormal embryonic cilia morphology abnormal embryonic ciliary morphology abnormal motile primary cilia morphology abnormal nodal cilium morphology MPheno.ontology MP:0004131 abnormal motile primary cilium morphology MP:0004131 any structural anomaly of the cilia of the embryo found on the cells of the embryonic node, which generate flow of extraembryonic fluid surrounding the node in a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization GO:0031512 https://orcid.org/0000-0002-6490-7723 absence of cilia on the cells of the embryonic node absent embryonic ciliary absent motile primary cilia absent motile primary cilium absent nodal cilium MPheno.ontology MP:0004132 absent embryonic cilia MP:0004132 absence of cilia on the cells of the embryonic node https://orcid.org/0000-0002-6490-7723 abnormal arrangement of organs or parts of the body in relation to each other according to the left-right axis Fyler:0190 Fyler:190 MPATH:712 abnormal bilateral symmetry heterotaxis heterotaxy MPheno.ontology heterotaxy syndrome MP:0004133 heterotaxia MP:0004133 abnormal arrangement of organs or parts of the body in relation to each other according to the left-right axis PMID:16461029 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the part of the body between the neck and the abdomen abnormal thorax morphology MPheno.ontology MP:0004134 abnormal chest morphology MP:0004134 any structural anomaly of the part of the body between the neck and the abdomen https://orcid.org/0000-0003-4606-0597 aberration in the differentiation of the mammary gland during early embryogenesis MPheno.ontology MP:0004135 abnormal mammary gland embryonic development MP:0004135 aberration in the differentiation of the mammary gland during early embryogenesis MGI:llw2 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the muscular portion of the tongue abnormal lingual muscle morphology MPheno.ontology MP:0004136 abnormal tongue muscle morphology MP:0004136 any structural anomaly of the muscular portion of the tongue ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the mucus secreting epithelial cells that line the luminal surface of the stomach and the gastric pits which secrete mucus and HCO3- to protect the gastric surface from the acidic environment of the stomach abnormal gastric surface mucous cells MPheno.ontology MP:0004137 abnormal gastric surface mucous cell morphology MP:0004137 any structural anomaly of the mucus secreting epithelial cells that line the luminal surface of the stomach and the gastric pits which secrete mucus and HCO3- to protect the gastric surface from the acidic environment of the stomach ISBN:0781768527 https://orcid.org/0009-0005-7755-8314 any structural anomaly of the mucin-producing epithelial cells present in the neck of the gastric glands MPheno.ontology MP:0004138 abnormal mucous neck cell morphology MP:0004138 any structural anomaly of the mucin-producing epithelial cells present in the neck of the gastric glands https://orcid.org/0009-0005-7755-8314 any structural anomaly of the gastric acid producing epithelial cells that are distributed throughout the length of the gastric gland abnormal parietal cell morphology MPheno.ontology MP:0004139 abnormal gastric parietal cell morphology MP:0004139 any structural anomaly of the gastric acid producing epithelial cells that are distributed throughout the length of the gastric gland https://orcid.org/0009-0005-7755-8314 any structural anomaly of the pepsinogen producing epithelial cells that are clustered at the base of the gastric gland abnormal chief cell morphology abnormal chief cell of stomach morphology abnormal gastric zymogenic cell morphology abnormal peptic cell morphology abnormal zymogenic cell of stomach morphology MPheno.ontology MP:0004140 abnormal gastric chief cell morphology MP:0004140 any structural anomaly of the pepsinogen producing epithelial cells that are clustered at the base of the gastric gland https://orcid.org/0009-0005-7755-8314 any structural anomaly of the various hormone- or neurotransmitter-secreting epithelial cells present throughout the mucosa of the digestive tract abnormal intestinal L cell morphology abnormal intestinal S cell morphology abnormal intestinal secretin cell morphology MPheno.ontology MP:0004141 abnormal enteroendocrine cell morphology MP:0004141 any structural anomaly of the various hormone- or neurotransmitter-secreting epithelial cells present throughout the mucosa of the digestive tract https://orcid.org/0000-0003-3691-0324 https://orcid.org/0009-0005-7755-8314 anomaly in the resting tautness or laxity of a muscle, normally somewhere in the middle of the range between total contraction and total relaxation MPheno.ontology MP:0004142 abnormal muscle tone MP:0004142 anomaly in the resting tautness or laxity of a muscle, normally somewhere in the middle of the range between total contraction and total relaxation MGI:hdene increased muscle tension resulting in stiffness of the muscles in the resting state muscle hypertonicity muscle hypertonus muscle spasticity MPheno.ontology MP:0004143 muscle hypertonia MP:0004143 increased muscle tension resulting in stiffness of the muscles in the resting state MGI:hdene decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness hypotonicity hypotonus MPheno.ontology MP:0004144 hypotonia MP:0004144 decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness MGI:hdene any functional anomaly of the musculature as it relates to electrical phenomena abnormal muscle electrical activity MPheno.ontology MP:0004145 abnormal muscle electrophysiology MP:0004145 any functional anomaly of the musculature as it relates to electrical phenomena https://orcid.org/0000-0003-3691-0324 missing the band in the center of the H band that contains proteins that crosslink the thick filament system (myosins) and the M-band part of the elastic filaments absent M band absent M disc absent M disk absent M lines absent mesophragma MPheno.ontology MP:0004146 absent M line MP:0004146 missing the band in the center of the H band that contains proteins that crosslink the thick filament system (myosins) and the M-band part of the elastic filaments https://orcid.org/0000-0002-6490-7723 elevated concentration of porphyrins or protoporphyrins MPheno.ontology MP:0004147 increased porphyrin level MP:0004147 elevated concentration of porphyrins or protoporphyrins https://orcid.org/0000-0003-4606-0597 thicker than normal superficial layer of compact bone increased cortical bone thickness MPheno.ontology MP:0004148 increased compact bone thickness MP:0004148 thicker than normal superficial layer of compact bone MGI:brs increased ability of bone to endure the application of force without yielding or breaking MPheno.ontology MP:0004149 increased bone strength MP:0004149 increased ability of bone to endure the application of force without yielding or breaking MGI:brs absence of the small pockets, vesicles, caves, or recesses communicating with the outside of a cell and extending inward, indenting the cytoplasm and the cell membrane MPheno.ontology MP:0004150 absent caveolae MP:0004150 absence of the small pockets, vesicles, caves, or recesses communicating with the outside of a cell and extending inward, indenting the cytoplasm and the cell membrane https://orcid.org/0000-0002-6490-7723 less than the normal concentration of iron in the blood hypoferraemia hypoferremia reduced circulating iron level decreased serum iron level serum iron deficiency MPheno.ontology MP:0004151 Serum iron measures the total amount of iron in the blood, nearly all of which is bound to transferrin. decreased circulating iron level MP:0004151 less than the normal concentration of iron in the blood https://orcid.org/0000-0002-6490-7723 anomalous blood concentration of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes MPheno.ontology MP:0004152 Serum iron measures the total amount of iron in the blood, nearly all of which is bound to transferrin. abnormal circulating iron level MP:0004152 anomalous blood concentration of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes ISBN:0-683-40008-8 increase in the number of renal tubule cells undergoing programmed cell death MPheno.ontology MP:0004153 increased renal tubule apoptosis MP:0004153 increase in the number of renal tubule cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 morphological changes resulting from pathological death of renal tubular tissue; usually due to irreversible damage necrotic renal tubule necrotic renal tubules MPheno.ontology MP:0004154 renal tubular necrosis MP:0004154 morphological changes resulting from pathological death of renal tubular tissue; usually due to irreversible damage https://orcid.org/0000-0002-6490-7723 reduced or absent inflammatory response in the pancreatic tissue after experimental manipulation MPheno.ontology increased resistance to induced pancreatitis MP:0004155 decreased susceptibility to induced pancreatitis MP:0004155 reduced or absent inflammatory response in the pancreatic tissue after experimental manipulation https://orcid.org/0000-0001-7973-5445 anomaly in the index of beat-to-beat QT interval fluctuations (temporal QT interval variability), normally expressed as a unitless negative number reflecting beat-to-beat changes in ventricular repolarization; an increased, positive QTVI number indicates significant repolarization abnormalities abnormal QTVI MPheno.ontology MP:0004156 abnormal QT variability MP:0004156 anomaly in the index of beat-to-beat QT interval fluctuations (temporal QT interval variability), normally expressed as a unitless negative number reflecting beat-to-beat changes in ventricular repolarization; an increased, positive QTVI number indicates significant repolarization abnormalities https://orcid.org/0000-0002-6490-7723 complete discontinuation between the ascending and descending aorta; includes Type A, interruption distal to the subclavian artery that is ipsilateral to the second carotid artery, and Type B, interruption between second carotid artery and ipsilateral subclavian artery Fyler:1250 IAA MPheno.ontology MP:0004157 interrupted aortic arch MP:0004157 complete discontinuation between the ascending and descending aorta; includes Type A, interruption distal to the subclavian artery that is ipsilateral to the second carotid artery, and Type B, interruption between second carotid artery and ipsilateral subclavian artery https://orcid.org/0009-0005-7755-8314 https://www.cincinnatichildrens.org/health/i/iaa the aortic arch lies to the right of the trachea and esophagus; results from persistence of the entire right dorsal arch and involution of a segment of the left arch Fyler:2720 right sided aortic arch right-sided aortic arch MPheno.ontology MP:0004158 right aortic arch MP:0004158 the aortic arch lies to the right of the trachea and esophagus; results from persistence of the entire right dorsal arch and involution of a segment of the left arch https://orcid.org/0009-0005-7755-8314 defect in which the main aorta tube splits into large left and right branches (right and left aortic arches), encircling the trachea and esophagus, before becoming one tube to go to the lower body Fyler:2761 double-sided aortic arch MPheno.ontology MP:0004159 double aortic arch MP:0004159 defect in which the main aorta tube splits into large left and right branches (right and left aortic arches), encircling the trachea and esophagus, before becoming one tube to go to the lower body https://orcid.org/0009-0005-7755-8314 the subclavian artery aberrantly originates from the aortic arch distal to the origin of the left subclavian artery, i.e., it is the last branch of the aortic arch arteria subclavia lusoria retro-esophageal right subclavian artery retro-oesophageal right subclavian artery MPheno.ontology MP:0004160 retroesophageal right subclavian artery MP:0004160 the subclavian artery aberrantly originates from the aortic arch distal to the origin of the left subclavian artery, i.e., it is the last branch of the aortic arch https://orcid.org/0009-0005-7755-8314 aortic arch is located above the level of the clavicle MPheno.ontology MP:0004161 cervical aortic arch MP:0004161 aortic arch is located above the level of the clavicle https://orcid.org/0009-0005-7755-8314 any structural anomaly of the protrusion at the posterior end of the hypothalamus that contains hypothalamic nuclei MPheno.ontology MP:0004162 abnormal mammillary body morphology MP:0004162 any structural anomaly of the protrusion at the posterior end of the hypothalamus that contains hypothalamic nuclei https://orcid.org/0000-0003-3691-0324 any structural anomaly of the anterior part of the pituitary that secretes a variety of hormones; its function is regulated by the hypothalamus abnormal adenophysis morphology abnormal anterior pituitary lobe abnormal pituitary anterior lobe MPheno.ontology MP:0004163 abnormal adenohypophysis morphology MP:0004163 any structural anomaly of the anterior part of the pituitary that secretes a variety of hormones; its function is regulated by the hypothalamus https://orcid.org/0000-0003-3691-0324 any structural anomaly of the posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormone abnormal infundibular process morphology abnormal neural lobe of pituitary gland morphology abnormal neural lobe of pituitary morphology abnormal neurophysis morphology abnormal posterior lobe of pituitary gland morphology abnormal posterior lobe of pituitary morphology abnormal posterior pituitary morphology MPheno.ontology abnormal pituitary posterior lobe MP:0004164 abnormal neurohypophysis morphology MP:0004164 any structural anomaly of the posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormone https://orcid.org/0000-0003-3691-0324 any structural anomaly of the group of neurons that serve as the primary processor of visual information received from the retina via the optic tract and send processed information to the visual cortex of the occipital lobe abnormal LGN morphology MPheno.ontology MP:0004165 abnormal lateral geniculate nucleus morphology MP:0004165 any structural anomaly of the group of neurons that serve as the primary processor of visual information received from the retina via the optic tract and send processed information to the visual cortex of the occipital lobe ISBN:0-683-40008-8 any structural anomaly of any of a collection of structures in the brain involved in emotion, motivation and emotional aspects of memory; these structures act together to control the endocrine system and the autonomic nervous system MPheno.ontology MP:0004166 abnormal limbic system morphology MP:0004166 any structural anomaly of any of a collection of structures in the brain involved in emotion, motivation and emotional aspects of memory; these structures act together to control the endocrine system and the autonomic nervous system PMID:2181500 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the ridge in the cerebral cortex located dorsal to the corpus callosum that controls autonomic functions regulating heart rate and blood pressure as well as cognitive and attentional processing abnormal callosal gyrus morphology abnormal falciform lobe MPheno.ontology MP:0004167 abnormal cingulate gyrus morphology MP:0004167 any structural anomaly of the ridge in the cerebral cortex located dorsal to the corpus callosum that controls autonomic functions regulating heart rate and blood pressure as well as cognitive and attentional processing https://orcid.org/0000-0003-3691-0324 any structural anomaly of the ridge in the cerebral cortex that contains the olfactory cortex and that plays a role in the formation of topographical memory MPheno.ontology MP:0004168 abnormal parahippocampal gyrus morphology MP:0004168 any structural anomaly of the ridge in the cerebral cortex that contains the olfactory cortex and that plays a role in the formation of topographical memory ISBN:0-683-40008-8 any structural anomaly of the horseshoe-shaped gyrus of the cerebral cortex that consists of the cingulate gyrus and the parahippocampal gyrus abnormal limbic lobe morphology MPheno.ontology MP:0004169 abnormal fornicate gyrus morphology MP:0004169 any structural anomaly of the horseshoe-shaped gyrus of the cerebral cortex that consists of the cingulate gyrus and the parahippocampal gyrus ISBN:0-683-40008-8 any structural anomaly of the region of the cerebral cortex covering the basal surface of the frontal lobes; this region normally controls emotion and decision making MPheno.ontology MP:0004170 abnormal orbitofrontal cortex morphology MP:0004170 any structural anomaly of the region of the cerebral cortex covering the basal surface of the frontal lobes; this region normally controls emotion and decision making https://orcid.org/0000-0003-3691-0324 anomaly in the progression of the formation of the roof region of the telencephalon MPheno.ontology MP:0004171 abnormal pallium development MP:0004171 anomaly in the progression of the formation of the roof region of the telencephalon https://orcid.org/0000-0003-3691-0324 anomaly in the progression of the formation of the base region of the telencephalon MPheno.ontology MP:0004172 abnormal subpallium development MP:0004172 anomaly in the progression of the formation of the base region of the telencephalon https://orcid.org/0000-0003-3691-0324 any structural anomaly of the cartilaginous and gelatinous structure found between vertebrae abnormal intervertebral disc morphology MPheno.ontology MP:0004173 abnormal intervertebral disk morphology MP:0004173 any structural anomaly of the cartilaginous and gelatinous structure found between vertebrae https://orcid.org/0000-0003-4606-0597 deviation from the typical S-shape of the spine MPheno.ontology MP:0004174 abnormal spine curvature MP:0004174 deviation from the typical S-shape of the spine https://orcid.org/0000-0003-4606-0597 vascular lesion formed by dilation of a group of small blood vessels telangiectases telangiectasias telangiectasis MPheno.ontology MP:0004175 telangiectasia MP:0004175 vascular lesion formed by dilation of a group of small blood vessels https://orcid.org/0009-0005-7755-8314 telangiectases https://www.ncbi.nlm.nih.gov/medgen/21088 vascular lesion formed by dilation of a group of small blood vessels in the ear ear telangiectases ear telangiectasias ear telangiectasis MPheno.ontology MP:0004176 ear telangiectasia MP:0004176 vascular lesion formed by dilation of a group of small blood vessels in the ear https://orcid.org/0009-0005-7755-8314 vascular lesion formed by dilation of a group of small blood vessels in the tail tail telangiectases tail telangiectasias tail telangiectasis MPheno.ontology MP:0004177 tail telangiectasia MP:0004177 vascular lesion formed by dilation of a group of small blood vessels in the tail https://orcid.org/0009-0005-7755-8314 vascular lesion formed by dilation of a group of small blood vessels in the neck neck telangiectases neck telangiectasias neck telangiectasis MPheno.ontology MP:0004178 neck telangiectasia MP:0004178 vascular lesion formed by dilation of a group of small blood vessels in the neck https://orcid.org/0009-0005-7755-8314 the frequency that an allele or haplotype in the offspring of an organism deviates from expected Mendelian ratios nonrandom segregation ratio MPheno.ontology MP:0004179 transmission ratio distortion MP:0004179 the frequency that an allele or haplotype in the offspring of an organism deviates from expected Mendelian ratios MGI:llw2 https://orcid.org/0000-0003-3691-0324 failure to begin the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage MPheno.ontology MP:0004180 In mouse, this event occurs at E8.5-E9.5. failure of initiation of embryo turning MP:0004180 failure to begin the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage https://orcid.org/0009-0005-7755-8314 any structural anomaly of the bilaterally paired branched arteries that deliver oxygenated nutrient filled blood from the heart to the head, neck, and brain; of the two common carotid arteries, which extend headward on each side of the anterior neck, the left originates in the arch of the aorta over the heart; the right originates in the brachiocephalic trunk, the largest branch from the arch of the aorta; each common carotid artery divides into an external and an internal carotid artery near the top of the thyroid MPheno.ontology MP:0004181 abnormal carotid artery morphology MP:0004181 any structural anomaly of the bilaterally paired branched arteries that deliver oxygenated nutrient filled blood from the heart to the head, neck, and brain; of the two common carotid arteries, which extend headward on each side of the anterior neck, the left originates in the arch of the aorta over the heart; the right originates in the brachiocephalic trunk, the largest branch from the arch of the aorta; each common carotid artery divides into an external and an internal carotid artery near the top of the thyroid https://orcid.org/0000-0002-6490-7723 anomaly in the process by which mature spermatids are released from the supporting Sertoli cells into the lumen of seminiferous tubules prior to their passage to the epididymis MPheno.ontology MP:0004182 abnormal spermiation MP:0004182 anomaly in the process by which mature spermatids are released from the supporting Sertoli cells into the lumen of seminiferous tubules prior to their passage to the epididymis PMID:21866274 https://orcid.org/0000-0002-6490-7723 any functional anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations MPheno.ontology MP:0004183 abnormal sympathetic nervous system physiology MP:0004183 any functional anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations https://orcid.org/0000-0002-6490-7723 any functional anomaly of the sensory nerve endings found in the wall of the atria of the heart, vena cava, aortic arch and carotid sinus that are sensitive to changes in blood pressure abnormal baroreflex function abnormal pressoreceptor physiology MPheno.ontology MP:0004184 abnormal baroreceptor physiology MP:0004184 any functional anomaly of the sensory nerve endings found in the wall of the atria of the heart, vena cava, aortic arch and carotid sinus that are sensitive to changes in blood pressure https://orcid.org/0000-0002-6490-7723 anomaly in the ability of adipocytes to take in glucose abnormal fat cell glucose uptake MPheno.ontology MP:0004185 abnormal adipocyte glucose uptake MP:0004185 anomaly in the ability of adipocytes to take in glucose https://orcid.org/0000-0002-6490-7723 any structural anomaly of the small, elevated area in the lateral wall of the inferior recess of the fourth ventricle, involved in the control of cardiorespiratory physiology; in addition, the area postrema is the location of the chemotoxic trigger zone at which emesis (vomiting) is induced by various toxins in the blood stream and that affect the hypothalamus to induce taste aversion MPheno.ontology MP:0004186 abnormal area postrema morphology MP:0004186 any structural anomaly of the small, elevated area in the lateral wall of the inferior recess of the fourth ventricle, involved in the control of cardiorespiratory physiology; in addition, the area postrema is the location of the chemotoxic trigger zone at which emesis (vomiting) is induced by various toxins in the blood stream and that affect the hypothalamus to induce taste aversion http://neuroscience.uth.tmc.edu/s4/chapter01.html https://orcid.org/0000-0002-6490-7723 failure of the bilateral myocardial cells to coalesce into a single central heart tube resulting in the presence of two independent hearts MPheno.ontology MP:0004187 cardia bifida MP:0004187 failure of the bilateral myocardial cells to coalesce into a single central heart tube resulting in the presence of two independent hearts https://orcid.org/0000-0003-4606-0597 completion of axial rotation occurs later than in controls but is eventually completed MPheno.ontology MP:0004188 delayed embryo turning MP:0004188 completion of axial rotation occurs later than in controls but is eventually completed https://orcid.org/0000-0003-4606-0597 any structural anomaly of the thickened ridge of bone in the mandible and maxilla that holds the tooth sockets abnormal alveolar body morphology abnormal alveolar bone morphology abnormal alveolar ridge morphology MPheno.ontology MP:0004189 abnormal alveolar process morphology MP:0004189 any structural anomaly of the thickened ridge of bone in the mandible and maxilla that holds the tooth sockets https://orcid.org/0000-0003-4606-0597 axial rotation of the embryo in a direction other than the normal anticlockwise direction when viewed towards the caudal pole during the late primitive streak/early somite stage; clockwise rotation is frequently associated with heart and visceral defects MPheno.ontology MP:0004190 In mouse, this event occurs at E8.5-E9.5. abnormal direction of embryo turning MP:0004190 axial rotation of the embryo in a direction other than the normal anticlockwise direction when viewed towards the caudal pole during the late primitive streak/early somite stage; clockwise rotation is frequently associated with heart and visceral defects ISBN:0-12-402035-6 presence of aggregates of protein within the nuclei of neurons; frequently seen in Huntington's disease MPheno.ontology MP:0004191 neuronal intranuclear inclusions MP:0004191 presence of aggregates of protein within the nuclei of neurons; frequently seen in Huntington's disease MGI:acv any structural anomaly of the conical mass of tissue, containing part of the secreting and collecting tubules, whose base faces the renal cortex abnormal malpighian pyramid morphology abnormal medullary pyramid morphology MPheno.ontology MP:0004192 abnormal kidney pyramid morphology MP:0004192 any structural anomaly of the conical mass of tissue, containing part of the secreting and collecting tubules, whose base faces the renal cortex https://orcid.org/0000-0003-4606-0597 any structural anomaly of the apex of the renal pyramid that projects into a calyx MPheno.ontology MP:0004193 abnormal kidney papilla morphology MP:0004193 any structural anomaly of the apex of the renal pyramid that projects into a calyx https://orcid.org/0000-0003-4606-0597 any structural anomaly of the area at the center of the kidney formed by convergence of the major calices where urine collects and is funneled into the ureter abnormal pelvis of ureter morphology abnormal renal pelvis morphology MPheno.ontology abnormal pyelum morphology MP:0004194 abnormal kidney pelvis morphology MP:0004194 any structural anomaly of the area at the center of the kidney formed by convergence of the major calices where urine collects and is funneled into the ureter https://orcid.org/0000-0003-4606-0597 url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/renal-pelvis any structural anomaly of any of the branches of the renal pelvis that surround each renal papilla and collect urine MA:0000369 abnormal calyx morphology abnormal kidney calix morphology abnormal renal calyx morphology MPheno.ontology abnormal kidney calicies morphology abnormal renal calix morphology MP:0004195 abnormal kidney calyx morphology MP:0004195 any structural anomaly of any of the branches of the renal pelvis that surround each renal papilla and collect urine https://orcid.org/0000-0003-4606-0597 limited or accelerated growth or development apparent before birth MPheno.ontology MP:0004196 abnormal prenatal growth/weight/body size MP:0004196 limited or accelerated growth or development apparent before birth https://orcid.org/0000-0003-3691-0324 limited or accelerated growth or development apparent during the fetal period (sensu Mus: from E14 through birth) abnormal foetal growth/weight/body size MPheno.ontology MP:0004197 abnormal fetal growth/weight/body size MP:0004197 limited or accelerated growth or development apparent during the fetal period (sensu Mus: from E14 through birth) https://orcid.org/0000-0003-3691-0324 anomalous proportions of a fetus compared to littermates (sensu Mus: from E14 through birth) abnormal foetal size MPheno.ontology MP:0004198 abnormal fetal size MP:0004198 anomalous proportions of a fetus compared to littermates (sensu Mus: from E14 through birth) https://orcid.org/0000-0003-3691-0324 larger proportions of a fetus compared to littermates (sensu Mus: from E14 through birth) enlarged fetal size enlarged foetal size increased foetal size MPheno.ontology MP:0004199 increased fetal size MP:0004199 larger proportions of a fetus compared to littermates (sensu Mus: from E14 through birth) https://orcid.org/0000-0003-3691-0324 smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth) decreased foetal size reduced fetal size reduced foetal size MPheno.ontology MP:0004200 decreased fetal size MP:0004200 smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth) https://orcid.org/0000-0003-3691-0324 slow or limited development during the fetal period (sensu Mus: from E14 through birth) foetal growth retardation MPheno.ontology MP:0004201 fetal growth retardation MP:0004201 slow or limited development during the fetal period (sensu Mus: from E14 through birth) https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the lung, typically resulting in increased size hyperplastic lung lung hyperplasia MPheno.ontology MP:0004202 pulmonary hyperplasia MP:0004202 increase in the number of normal cells in normal arrangement in the lung, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 any structural anomaly or absence of the sharp, ventrally concave bend in the developing midbrain of the embryo abnormal cephalic flexure morphology abnormal cerebral flexure morphology abnormal mesencephalic flexure morphology abnormal midbrain flexure morphology MPheno.ontology MP:0004203 abnormal cranial flexure morphology MP:0004203 any structural anomaly or absence of the sharp, ventrally concave bend in the developing midbrain of the embryo https://orcid.org/0000-0002-6490-7723 absence of the smallest and innermost of the three auditory ossicles MPheno.ontology MP:0004204 absent stapes MP:0004204 absence of the smallest and innermost of the three auditory ossicles https://orcid.org/0000-0002-6490-7723 absence of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles absent lingual bone absent tongue bone MPheno.ontology MP:0004205 absent hyoid bone MP:0004205 absence of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles https://orcid.org/0000-0002-6490-7723 any structural anomaly of the portion of the embryonic somite that remains after migration of the sclerotomic tissue abnormal dermamyotome development MPheno.ontology MP:0004206 abnormal dermomyotome development MP:0004206 any structural anomaly of the portion of the embryonic somite that remains after migration of the sclerotomic tissue https://orcid.org/0000-0002-6490-7723 higher than normal incidence of a carcinoma that arises from stratified squamous epithelium that occurs in sites where glandular or columnar epithelium is normally present, such as the skin, esophagus, lungs and cervix MPheno.ontology SCC squamous cell carcinoma MP:0004207 increased squamous cell carcinoma incidence MP:0004207 higher than normal incidence of a carcinoma that arises from stratified squamous epithelium that occurs in sites where glandular or columnar epithelium is normally present, such as the skin, esophagus, lungs and cervix MGI:rbabiuk greater than the expected number of a slow-growing, invasive, but usually non-metastasizing neoplasm that originates from basal keratinocytes in the epidermis, occurring in a specific population in a given time period MPheno.ontology skin basal cell carcinoma MP:0004208 increased basal cell carcinoma incidence MP:0004208 greater than the expected number of a slow-growing, invasive, but usually non-metastasizing neoplasm that originates from basal keratinocytes in the epidermis, occurring in a specific population in a given time period MGI:rbabiuk changes in the ability to perceive a particular flavor or suggestion of something sweet by the chemoreceptors of the gustatory system MPheno.ontology MP:0004209 abnormal sweet taste sensitivity MP:0004209 changes in the ability to perceive a particular flavor or suggestion of something sweet by the chemoreceptors of the gustatory system https://orcid.org/0000-0003-3691-0324 changes in the ability to perceive a particular flavor or suggestion of something bitter by the chemoreceptors of the gustatory system MPheno.ontology MP:0004210 abnormal bitter taste sensitivity MP:0004210 changes in the ability to perceive a particular flavor or suggestion of something bitter by the chemoreceptors of the gustatory system https://orcid.org/0000-0003-3691-0324 changes in the ability to perceive a particular flavor or suggestion of something sour by the chemoreceptors of the gustatory system MPheno.ontology MP:0004211 abnormal sour taste sensitivity MP:0004211 changes in the ability to perceive a particular flavor or suggestion of something sour by the chemoreceptors of the gustatory system https://orcid.org/0000-0003-3691-0324 changes in the ability to perceive a particular flavor or suggestion of something salty by the chemoreceptors of the gustatory system MPheno.ontology MP:0004212 abnormal salty taste sensitivity MP:0004212 changes in the ability to perceive a particular flavor or suggestion of something salty by the chemoreceptors of the gustatory system https://orcid.org/0000-0003-3691-0324 changes in the ability to perceive a particular flavor or suggestion of something umami (savory) by the chemoreceptors of the gustatory system MPheno.ontology MP:0004213 abnormal umami taste sensitivity MP:0004213 changes in the ability to perceive a particular flavor or suggestion of something umami (savory) by the chemoreceptors of the gustatory system https://orcid.org/0000-0003-3691-0324 any structural anomaly of the main or mid section (shaft) of a long bone abnormal long bone shaft morphology MPheno.ontology MP:0004214 abnormal long bone diaphysis morphology MP:0004214 any structural anomaly of the main or mid section (shaft) of a long bone https://orcid.org/0009-0005-7755-8314 anomaly in the function of the terminally differentiated, non-proliferative, multinucleated muscle cells of the heart abnormal adult cardiomyocyte physiology abnormal cardiac muscle cell physiology abnormal cardiac myocyte physiology abnormal myocardial fibre physiology MPheno.ontology MP:0004215 abnormal myocardial fiber physiology MP:0004215 anomaly in the function of the terminally differentiated, non-proliferative, multinucleated muscle cells of the heart https://orcid.org/0000-0003-4606-0597 sustained high blood pressure that is maintained regardless of the amount of salt consumed in the diet MPheno.ontology MP:0004216 salt-resistant hypertension MP:0004216 sustained high blood pressure that is maintained regardless of the amount of salt consumed in the diet https://orcid.org/0000-0003-3691-0324 sustained high blood pressure that is maintained with a normal or increase in the amount of salt consumed in the diet; blood pressure may return to normotensive with a low salt diet salt-induced hypertension MPheno.ontology MP:0004217 salt-sensitive hypertension MP:0004217 sustained high blood pressure that is maintained with a normal or increase in the amount of salt consumed in the diet; blood pressure may return to normotensive with a low salt diet https://orcid.org/0000-0003-3691-0324 abnormal separation of pairs of homologous chromosomes during anaphase of the first meiotic division such that each daughter cell receives one set of paired chromosomes MPheno.ontology MP:0004218 meiotic nondisjunction during M1 phase MP:0004218 abnormal separation of pairs of homologous chromosomes during anaphase of the first meiotic division such that each daughter cell receives one set of paired chromosomes https://orcid.org/0000-0003-3691-0324 abnormal separation of chromosomes during anaphase of the second meiotic division such that one complete chromosome goes to each daughter cell MPheno.ontology MP:0004219 meiotic nondisjunction during M2 phase MP:0004219 abnormal separation of chromosomes during anaphase of the second meiotic division such that one complete chromosome goes to each daughter cell https://orcid.org/0000-0003-3691-0324 anomaly in the renewal, repair, and/or regrowth of peripheral nervous system tissue following injury or disease abnormal PNS regeneration MPheno.ontology MP:0004220 abnormal peripheral nervous system regeneration MP:0004220 anomaly in the renewal, repair, and/or regrowth of peripheral nervous system tissue following injury or disease https://orcid.org/0000-0002-6490-7723 any structural anomaly of the acute angle occurring between the iris and the cornea at the periphery of the anterior chamber of the eye abnormal angle of the iris abnormal anterior chamber angle abnormal filtration angle MPheno.ontology MP:0004221 abnormal iridocorneal angle MP:0004221 any structural anomaly of the acute angle occurring between the iris and the cornea at the periphery of the anterior chamber of the eye PMID:8652890 https://orcid.org/0000-0002-6490-7723 an adhesion (synechia) of the iris to the cornea or lens of the eye that may develop from glaucoma, cataracts, uveitis, or keratitis or as a complication of surgery or trauma to the eye; synechiae may prevent or impede flow of aqueous fluid between the anterior and posterior chambers of the eye, resulting in angle closure glaucoma iris synechiae MPheno.ontology MP:0004222 iris synechia MP:0004222 an adhesion (synechia) of the iris to the cornea or lens of the eye that may develop from glaucoma, cataracts, uveitis, or keratitis or as a complication of surgery or trauma to the eye; synechiae may prevent or impede flow of aqueous fluid between the anterior and posterior chambers of the eye, resulting in angle closure glaucoma https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the trabecular meshwork of the eye, typically resulting in decreased size trabecular meshwork hypoplasia MPheno.ontology MP:0004223 hypoplastic trabecular meshwork MP:0004223 decrease in the number of normal cells in normal arrangement in the trabecular meshwork of the eye, typically resulting in decreased size MESH:A09.371.060.932 https://orcid.org/0000-0002-6490-7723 absence of the pore-like structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates MPheno.ontology MP:0004224 absent trabecular meshwork MP:0004224 absence of the pore-like structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates MESH:A09.371.060.932 https://orcid.org/0000-0002-6490-7723 incomplete closure of the atrial septum after birth, resulting in a flap or a valve-like opening in the atrial septal wall Fyler:2020 PFO persistent cardiac foramen ovale MPheno.ontology MP:0004225 patent cardiac foramen ovale MP:0004225 incomplete closure of the atrial septum after birth, resulting in a flap or a valve-like opening in the atrial septal wall https://orcid.org/0000-0002-6490-7723 absence of the vascular structure encircling the anterior chamber of the eye, through which the aqueous humor is returned to the blood circulation MPheno.ontology MP:0004226 absent Schlemm's canal MP:0004226 absence of the vascular structure encircling the anterior chamber of the eye, through which the aqueous humor is returned to the blood circulation ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 increased incidence of cell death following exposure to ionizing radiation decreased cellular resistance to ionizing radiation increased cellular susceptibility to ionizing radiation MPheno.ontology MP:0004227 increased cellular sensitivity to ionizing radiation MP:0004227 increased incidence of cell death following exposure to ionizing radiation https://orcid.org/0000-0003-3691-0324 decreased incidence of cell death following exposure to ionizing radiation decreased cellular susceptibility to ionizing radiation increased cellular resistance to ionizing radiation reduced cellular sensitivity to ionizing radiation MPheno.ontology MP:0004228 decreased cellular sensitivity to ionizing radiation MP:0004228 decreased incidence of cell death following exposure to ionizing radiation https://orcid.org/0000-0003-3691-0324 anomaly in the development of primarily large, nucleated erythroblasts occurring in blood islands in the yolk sac, generally occurs from E7-E11 in the mouse and through 10 weeks in humans abnormal embryonic erythrocyte development abnormal primitive erythropoiesis MPheno.ontology MP:0004229 abnormal embryonic erythropoiesis MP:0004229 anomaly in the development of primarily large, nucleated erythroblasts occurring in blood islands in the yolk sac, generally occurs from E7-E11 in the mouse and through 10 weeks in humans https://orcid.org/0000-0003-4606-0597 any structural anomaly of the embryonic blood cells that carry oxygen; embryonic erythrocytes arise from yolk sac blood islands and express different types of hemoglobins (beta-H1, gamma-1 and zeta) than adult erythrocytes, and can enucleate in circulation CL:0002355 abnormal primitive erythroblast morphology abnormal primitive erythrocyte morphology abnormal primitive erythroid cell morphology abnormal primitive red blood cell morphology MPheno.ontology abnormal primary erythrocyte morphology MP:0004230 abnormal embryonic erythrocyte morphology MP:0004230 any structural anomaly of the embryonic blood cells that carry oxygen; embryonic erythrocytes arise from yolk sac blood islands and express different types of hemoglobins (beta-H1, gamma-1 and zeta) than adult erythrocytes, and can enucleate in circulation https://orcid.org/0000-0003-3691-0324 anomaly in the processes involved in the maintenance of an internal equilibrium of calcium ions within the body or between a cell and its external environment GO:0006874 MPheno.ontology MP:0004231 abnormal calcium ion homeostasis MP:0004231 anomaly in the processes involved in the maintenance of an internal equilibrium of calcium ions within the body or between a cell and its external environment https://orcid.org/0000-0003-3691-0324 less than average muscle weight reduced muscle weight MPheno.ontology MP:0004232 decreased muscle weight MP:0004232 less than average muscle weight https://orcid.org/0000-0003-3691-0324 any anomaly in the average muscle weight MPheno.ontology MP:0004233 abnormal muscle weight MP:0004233 any anomaly in the average muscle weight https://orcid.org/0000-0003-3691-0324 any structural anomaly of any of the muscles responsible for the movement of the jaws during mastication, including the masseter, temporal, and medial and lateral pterygoid muscles MPheno.ontology MP:0004234 abnormal masticatory muscle morphology MP:0004234 any structural anomaly of any of the muscles responsible for the movement of the jaws during mastication, including the masseter, temporal, and medial and lateral pterygoid muscles MESH:A02.633.567.600 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the masticatory muscle of posterior cheek with origin from the inferior border and medial surface of the zygomatic arch, with insertion into the lateral surface of the ramus of the mandible, with nerve supply from the masseteric nerve, and whose action closes the jaw during chewing MPheno.ontology MP:0004235 abnormal masseter muscle morphology MP:0004235 any structural anomaly of the masticatory muscle of posterior cheek with origin from the inferior border and medial surface of the zygomatic arch, with insertion into the lateral surface of the ramus of the mandible, with nerve supply from the masseteric nerve, and whose action closes the jaw during chewing MESH:A02.633.567.600.500 https://orcid.org/0000-0002-6490-7723 absence of the masticatory muscle of posterior cheek MPheno.ontology MP:0004236 absent masseter muscle MP:0004236 absence of the masticatory muscle of posterior cheek https://orcid.org/0000-0002-6490-7723 any structural anomaly of the muscles descending from the sphenoid bone to the lower jaw including the internal, or medial, pterygoid muscle and external, or lateral, pterygoid muscle; the action of the former is closing the jaws and that of the latter is opening the jaws, protruding the mandible, and moving the mandible from side to side MPheno.ontology MP:0004237 abnormal pterygoid muscle morphology MP:0004237 any structural anomaly of the muscles descending from the sphenoid bone to the lower jaw including the internal, or medial, pterygoid muscle and external, or lateral, pterygoid muscle; the action of the former is closing the jaws and that of the latter is opening the jaws, protruding the mandible, and moving the mandible from side to side MESH:A02.633.567.600.700 https://orcid.org/0000-0002-6490-7723 absence of either the internal or external or of both pterygoid muscles MPheno.ontology MP:0004238 absent pterygoid muscle MP:0004238 absence of either the internal or external or of both pterygoid muscles https://orcid.org/0000-0002-6490-7723 any structural anomaly of the superior-most masticatory muscle whose action is closing the jaws; its posterior portion retracts the mandible abnormal musculus temporalis abnormal temporal muscle abnormal temporalis MPheno.ontology MP:0004239 abnormal temporalis muscle morphology MP:0004239 any structural anomaly of the superior-most masticatory muscle whose action is closing the jaws; its posterior portion retracts the mandible MESH:A02.633.567.600.850 https://orcid.org/0000-0002-6490-7723 abnormal temporal muscle MESH:A02.633.567.600.850 absence of the superior-most masticatory muscle whose action is closing the jaws; its posterior portion retracts the mandible absent musculus temporalis absent temporal muscle absent temporalis MPheno.ontology MP:0004240 absent temporalis muscle MP:0004240 absence of the superior-most masticatory muscle whose action is closing the jaws; its posterior portion retracts the mandible MESH:A02.633.567.600.850 https://orcid.org/0000-0002-6490-7723 separation of prickle cells of the spinous layer of the epidermis, resulting in atrophy of the prickle cell layer, as in conditions such as pemphigus vulgaris and Darier disease MPheno.ontology MP:0004241 acantholysis MP:0004241 separation of prickle cells of the spinous layer of the epidermis, resulting in atrophy of the prickle cell layer, as in conditions such as pemphigus vulgaris and Darier disease MESH:C17.800.865.070 any structural anomaly of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli; plasmacytoid dendritic cells are found in the thymic medulla and lymph node T cell areas and are responsible for immune tolerance abnormal DC2 abnormal T-associated plasma cells abnormal lymphoid dendritic cell abnormal pDC abnormal plasmacytoid T cell abnormal plasmacytoid monocytes MPheno.ontology MP:0004242 abnormal plasmacytoid dendritic cell morphology MP:0004242 any structural anomaly of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli; plasmacytoid dendritic cells are found in the thymic medulla and lymph node T cell areas and are responsible for immune tolerance PMID:10449155 PMID:15596797 https://orcid.org/0000-0003-3691-0324 aberrant response of a motor neuron to form new neuritic processes (sprouts) that emerge from the nodes of Ranvier or terminal arborizations in response to nerve injury (such as denervation), application of nerve toxin, or muscle inactivity (usually due to disease) abnormal motor nerve nodal sprouting abnormal motor nerve terminal sprouting MPheno.ontology MP:0004243 abnormal motor nerve collateral sprouting MP:0004243 aberrant response of a motor neuron to form new neuritic processes (sprouts) that emerge from the nodes of Ranvier or terminal arborizations in response to nerve injury (such as denervation), application of nerve toxin, or muscle inactivity (usually due to disease) https://orcid.org/0000-0003-3691-0324 change in frequency of a natural or accidental termination of a pregnancy at a stage where the embryo or the fetus is incapable of surviving independently of the mother abnormal spontaneous abortion rate MPheno.ontology MP:0004244 abnormal miscarriage rate MP:0004244 change in frequency of a natural or accidental termination of a pregnancy at a stage where the embryo or the fetus is incapable of surviving independently of the mother https://orcid.org/0000-0002-6490-7723 bleeding into the genitals genital haemorrhage MPheno.ontology MP:0004245 genital hemorrhage MP:0004245 bleeding into the genitals https://orcid.org/0000-0002-6490-7723 any structural anomaly of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle abnormal EDL morphology MPheno.ontology MP:0004246 abnormal extensor digitorum longus morphology MP:0004246 any structural anomaly of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle https://orcid.org/0000-0003-4606-0597 decrease of the size of the pancreas compared to controls decreased pancreas size reduced pancreas size MPheno.ontology MP:0004247 small pancreas MP:0004247 decrease of the size of the pancreas compared to controls https://orcid.org/0009-0005-7755-8314 any structural anomaly of the muscles derived from the medial myotome; includes the intrinsic back muscles MPheno.ontology MP:0004248 abnormal epaxial muscle morphology MP:0004248 any structural anomaly of the muscles derived from the medial myotome; includes the intrinsic back muscles PMID:1591996 any structural anomaly in the elevation found on the inner surface of the ampullae of each semicircular duct; filaments of the vestibular nerve pass through the crista to reach hair cells on its surface; the hair cells are capped by the cupula, a gelatinous protein-polysaccharide mass MA:0002771 abnormal cristae morphology MPheno.ontology MP:0004249 abnormal crista ampullaris morphology MP:0004249 any structural anomaly in the elevation found on the inner surface of the ampullae of each semicircular duct; filaments of the vestibular nerve pass through the crista to reach hair cells on its surface; the hair cells are capped by the cupula, a gelatinous protein-polysaccharide mass https://orcid.org/0000-0002-6490-7723 formation of self-assembled aggregates of paired helical filaments and straight filaments due to hyperphosphorylation of the tau protein; often seen in neuronal tissues of individuals with neurodegenerative disorders MPheno.ontology MP:0004250 tau protein deposits MP:0004250 formation of self-assembled aggregates of paired helical filaments and straight filaments due to hyperphosphorylation of the tau protein; often seen in neuronal tissues of individuals with neurodegenerative disorders PMID:38930877 https://orcid.org/0000-0003-3691-0324 failure of the primitive heart tube to loop asymmetrically during early development failure of cardiac looping MPheno.ontology failure of looping morphogenesis MP:0004251 failure of heart looping MP:0004251 failure of the primitive heart tube to loop asymmetrically during early development GO:0001947 deviation from the characteristic rightward direction of looping of the primitive heart tube; frequently seen in heterotaxy syndromes abnormal direction of cardiac looping MPheno.ontology abnormal direction of looping morphogenesis MP:0004252 abnormal direction of heart looping MP:0004252 deviation from the characteristic rightward direction of looping of the primitive heart tube; frequently seen in heterotaxy syndromes https://orcid.org/0000-0003-3691-0324 a cardiac anomaly whereby the left or right atrial appendage is cleaved, forming two separate pouches connected by a thin strand of muscular tissue MPheno.ontology MP:0004253 bifid atrial appendage MP:0004253 a cardiac anomaly whereby the left or right atrial appendage is cleaved, forming two separate pouches connected by a thin strand of muscular tissue https://orcid.org/0000-0002-6490-7723 a pathological condition where there is a deposition of amyloid in the walls of the small cerebral vessels which supply the brain; this results in an increased risk of infarcts and/or intracerebral hemorrhage, possibly resulting in dementia MPheno.ontology MP:0004254 cerebral amyloid angiopathy MP:0004254 a pathological condition where there is a deposition of amyloid in the walls of the small cerebral vessels which supply the brain; this results in an increased risk of infarcts and/or intracerebral hemorrhage, possibly resulting in dementia MGI:acv any structural anomaly of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors MPheno.ontology MP:0004255 abnormal spongiotrophoblast layer morphology MP:0004255 any structural anomaly of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors ISBN-10:0521851653 any structural anomaly of the maternal uterine-derived portion of the placenta MPheno.ontology MP:0004256 abnormal maternal decidual layer morphology MP:0004256 any structural anomaly of the maternal uterine-derived portion of the placenta PMID:11433360 any change in the weight of the organ of metabolic interchange between fetus and mother MPheno.ontology MP:0004257 abnormal placenta weight MP:0004257 any change in the weight of the organ of metabolic interchange between fetus and mother https://orcid.org/0000-0003-3691-0324 anomaly in the size or shape of the organ of metabolic interchange between fetus and mother MPheno.ontology MP:0004258 abnormal placenta size MP:0004258 anomaly in the size or shape of the organ of metabolic interchange between fetus and mother https://orcid.org/0000-0003-3691-0324 reduced size of the size or shape of the organ of metabolic interchange between fetus and mother decreased placenta size reduced size of placenta MPheno.ontology MP:0004259 small placenta MP:0004259 reduced size of the size or shape of the organ of metabolic interchange between fetus and mother https://orcid.org/0000-0003-3691-0324 increased size of the size or shape of the organ of metabolic interchange between fetus and mother increased size of placenta placentomegaly MPheno.ontology large placenta MP:0004260 enlarged placenta MP:0004260 increased size of the size or shape of the organ of metabolic interchange between fetus and mother https://orcid.org/0000-0003-3691-0324 any structural anomaly of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells abnormal embryonic neuroectoderm morphology abnormal neural tube neuroepithelium morphology MPheno.ontology MP:0004261 abnormal embryonic neuroepithelium morphology MP:0004261 any structural anomaly of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells ISBN:0838580343 https://orcid.org/0009-0005-7755-8314 altered ability of an organism to exert force on physical objects or of the body to support its load MPheno.ontology MP:0004262 abnormal physical strength MP:0004262 altered ability of an organism to exert force on physical objects or of the body to support its load https://orcid.org/0000-0003-3691-0324 atypical intentionally or habitually assumed position of the limbs compared to the normal carriage of the body MPheno.ontology MP:0004263 This term should not be used to describe abnormal limb placement on the body (congenital or trauma induced). abnormal limb posture MP:0004263 atypical intentionally or habitually assumed position of the limbs compared to the normal carriage of the body https://orcid.org/0000-0003-3691-0324 any functional anomaly of the membranes involved with embryonic protection and nutrition MPheno.ontology MP:0004264 abnormal extraembryonic tissue physiology MP:0004264 any functional anomaly of the membranes involved with embryonic protection and nutrition https://orcid.org/0000-0003-3691-0324 anomaly in the conveyance of metabolic products and nutrients across the placenta MPheno.ontology MP:0004265 abnormal placental transport MP:0004265 anomaly in the conveyance of metabolic products and nutrients across the placenta https://orcid.org/0000-0003-3691-0324 placenta lacking normal reddish coloration, often refers to bloodless condition MPheno.ontology MP:0004266 pale placenta MP:0004266 placenta lacking normal reddish coloration, often refers to bloodless condition https://orcid.org/0000-0003-3691-0324 any structural anomaly of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region abnormal tractus opticus morphology MPheno.ontology MP:0004267 abnormal optic tract morphology MP:0004267 any structural anomaly of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region ISBN:0-683-40008-8 any structural anomaly of the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain MPheno.ontology MP:0004268 abnormal optic stalk morphology MP:0004268 any structural anomaly of the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain ISBN:0-914294-08-3 any structural anomaly of double walled structure formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and neuronal layers of the retina, with the mouth of the optic cup developing into the pupil of the eye abnormal eye cup morphology abnormal eyecup morphology abnormal ocular cup morphology abnormal ophtalmic cup morphology MPheno.ontology MP:0004269 abnormal optic cup morphology MP:0004269 any structural anomaly of double walled structure formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and neuronal layers of the retina, with the mouth of the optic cup developing into the pupil of the eye https://orcid.org/0000-0003-4606-0597 inability to sense pain MPheno.ontology MP:0004270 analgesia MP:0004270 inability to sense pain https://orcid.org/0000-0003-3691-0324 true MP:0004271 anomaly in the structure, organization and/or placement of the extracellular supportive tissue adjacent to the basal surface of the epithelia, including the epithelium of muscle cells, fat cells and Schwann cells; it is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components and consists of two layers, the basal lamina and the lamina reticularis abnormal basement lamina morphology basement membrane dysplasia MPheno.ontology MP:0004272 Note: Basal lamina and lamina reticularis (or of two basal laminae) compose the basement membrane. Thus, in strict sense, the term basement membrane is different from and should not be confused with basal lamina. abnormal basement membrane morphology MP:0004272 anomaly in the structure, organization and/or placement of the extracellular supportive tissue adjacent to the basal surface of the epithelia, including the epithelium of muscle cells, fat cells and Schwann cells; it is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components and consists of two layers, the basal lamina and the lamina reticularis ISBN:0-683-40008-8 MESH:A10.272.220 any structural anomaly of the sheet of extracellular matrix characteristically situated under epithelial cells, around muscles, nerves, capillaries, and fat cells, and situated between these elements and the underlying or surrounding connective tissue MPheno.ontology MP:0004273 Note: Basal lamina and lamina reticularis (or of two basal laminae) compose the basement membrane. Thus, in strict sense, the term basement membrane is different from and should not be confused with basal lamina. abnormal basal lamina morphology MP:0004273 any structural anomaly of the sheet of extracellular matrix characteristically situated under epithelial cells, around muscles, nerves, capillaries, and fat cells, and situated between these elements and the underlying or surrounding connective tissue ISBN:0-683-40008-8 any structural anomaly of the transient proliferative population of neurons that expands exponentially during late prenatal development; it is a continuous germinal zone distinct from the ventricular zone that surrounds the brain ventricles abnormal SVZ abnormal subependymal layer abnormal subependymal plate abnormal subependymal zone abnormal subventricular zone abnormal embryonic subventricular zone abnormal embryonic/foetal subventricular zone morphology MPheno.ontology MP:0004274 abnormal embryonic/fetal subventricular zone morphology MP:0004274 any structural anomaly of the transient proliferative population of neurons that expands exponentially during late prenatal development; it is a continuous germinal zone distinct from the ventricular zone that surrounds the brain ventricles PMID:12637172 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the mitotically active layer of cells surrounding the brain ventricles in the adult that consists of migrating neuroblasts, astrocytes and transitory amplifying progenitor cells abnormal SVZ abnormal subependymal layer abnormal subependymal plate abnormal subependymal zone abnormal subventricular zone abnormal SEZ morphology abnormal adult SVZ MPheno.ontology MP:0004275 abnormal postnatal subventricular zone morphology MP:0004275 any structural anomaly of the mitotically active layer of cells surrounding the brain ventricles in the adult that consists of migrating neuroblasts, astrocytes and transitory amplifying progenitor cells PMID:12637172 https://orcid.org/0000-0003-3691-0324 any structural anomaly of a distinct elevation of a transient proliferating cell mass of the fetal subventricular zone; this mass contributes most of its cells to the neocortex; however, hippocampal neurons, thalamus, septum and olfactory bulb neurons are also partly derived from the MGE abnormal MGE MPheno.ontology MP:0004276 abnormal medial ganglionic eminence morphology MP:0004276 any structural anomaly of a distinct elevation of a transient proliferating cell mass of the fetal subventricular zone; this mass contributes most of its cells to the neocortex; however, hippocampal neurons, thalamus, septum and olfactory bulb neurons are also partly derived from the MGE PMID:12637172 https://orcid.org/0000-0003-3691-0324 any structural anomaly of a distinct elevation of a transient proliferating cell mass of the fetal subventricular zone; this mass contributes most of its cells to the striatum; however, neocortex, thalamus, septum and olfactory bulb neurons are also partly derived from the LGE abnormal LGE MPheno.ontology MP:0004277 abnormal lateral ganglionic eminence morphology MP:0004277 any structural anomaly of a distinct elevation of a transient proliferating cell mass of the fetal subventricular zone; this mass contributes most of its cells to the striatum; however, neocortex, thalamus, septum and olfactory bulb neurons are also partly derived from the LGE PMID:12637172 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the caudally located, distinct elevation of a transient proliferating cell mass of the fetal subventricular zone, located adjacent to the lateral ventricle abnormal CGE MPheno.ontology MP:0004278 abnormal caudal ganglionic eminence morphology MP:0004278 any structural anomaly of the caudally located, distinct elevation of a transient proliferating cell mass of the fetal subventricular zone, located adjacent to the lateral ventricle PMID:12637172 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the transient structure formed by neurons migrating from the subventricular zone into the olfactory bulbs MPheno.ontology MP:0004279 abnormal rostral migratory stream morphology MP:0004279 any structural anomaly of the transient structure formed by neurons migrating from the subventricular zone into the olfactory bulbs https://orcid.org/0000-0003-4606-0597 any structural anomaly of the group of motor neurons in the floor of the midbrain that gives rise to motor fibers of the oculomotor nerve MPheno.ontology MP:0004280 abnormal oculomotor nucleus morphology MP:0004280 any structural anomaly of the group of motor neurons in the floor of the midbrain that gives rise to motor fibers of the oculomotor nerve https://orcid.org/0009-0005-7755-8314 any structural anomaly of the group of motor neurons throughout most of the length of the medulla oblongata that give rise to the motor fibers of the hypoglossal nerve MPheno.ontology MP:0004281 abnormal hypoglossal nucleus morphology MP:0004281 any structural anomaly of the group of motor neurons throughout most of the length of the medulla oblongata that give rise to the motor fibers of the hypoglossal nerve https://orcid.org/0009-0005-7755-8314 abnormal posterior-shifted positioning of the upper or lower jaw relative to the facial skeleton and soft tissues; a type of malocclusion, that is, misalignment of the teeth caused by abnormal positioning of the jaws; the mandible is more frequently affected than the maxilla jaw retroposition receding jaw recessed jaw retrognathism MPheno.ontology MP:0004282 retrognathia MP:0004282 abnormal posterior-shifted positioning of the upper or lower jaw relative to the facial skeleton and soft tissues; a type of malocclusion, that is, misalignment of the teeth caused by abnormal positioning of the jaws; the mandible is more frequently affected than the maxilla https://orcid.org/0000-0002-6490-7723 absence of the single layer of large flattened cells that cover the surface of the cornea absent corneal endothelium MPheno.ontology MP:0004283 absent cornea endothelium MP:0004283 absence of the single layer of large flattened cells that cover the surface of the cornea https://orcid.org/0000-0002-6490-7723 any structural anomaly in the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea, considered to be a highly developed basement membrane abnormal Descemet's membrane abnormal Duddell membrane abnormal entocornea abnormal hyaloid membrane abnormal lamina elastica posterior abnormal lamina limitans posterior corneae abnormal membrana hyaloidea abnormal membrana vitrea abnormal posterior elastic layer abnormal posterior limiting lamina of cornea abnormal posterior limiting layer of cornea abnormal tunica vitrea abnormal vitreous membrane MPheno.ontology MP:0004284 abnormal Descemet membrane morphology MP:0004284 any structural anomaly in the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea, considered to be a highly developed basement membrane MESH:A09.371.060.217.271 https://orcid.org/0000-0002-6490-7723 absence of the transparent homogeneous acellular layer normally found between the substantia propria and the endothelial layer of the cornea MPheno.ontology MP:0004285 absent Descemet membrane MP:0004285 absence of the transparent homogeneous acellular layer normally found between the substantia propria and the endothelial layer of the cornea https://orcid.org/0000-0002-6490-7723 any structural anomaly in the canal beginning at the opening of the internal acoustic meatus in the posterior cranial fossa, passing laterally through the petrous portion of the temporal bone to end at the fundus, where a thin plate of bone separates it from the vestibule; it gives passage to the facial and vestibulocochlear nerves together with the labyrinthine artery and veins abnormal internal acoustic meatus morphology abnormal internal auditory meatus morphology abnormal meatus auditorius internus morphology MPheno.ontology MP:0004286 abnormal internal auditory canal morphology MP:0004286 any structural anomaly in the canal beginning at the opening of the internal acoustic meatus in the posterior cranial fossa, passing laterally through the petrous portion of the temporal bone to end at the fundus, where a thin plate of bone separates it from the vestibule; it gives passage to the facial and vestibulocochlear nerves together with the labyrinthine artery and veins https://orcid.org/0000-0002-6490-7723 any structural anomaly in the border of the spiral lamina, i.e. the thickened periosteum covering the upper plate of the bony spiral lamina of the cochlea abnormal limbus laminae spiralis osseae abnormal limbus spiralis MPheno.ontology MP:0004287 abnormal spiral limbus morphology MP:0004287 any structural anomaly in the border of the spiral lamina, i.e. the thickened periosteum covering the upper plate of the bony spiral lamina of the cochlea https://orcid.org/0000-0002-6490-7723 any structural anomaly in the thickened periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches abnormal crista spiralis abnormal ligamentum spirale cochleae abnormal ligamentum spirale ductus cochlearis abnormal spiral crest abnormal spiral ligament of cochlea abnormal spiral ligament of cochlear duct MPheno.ontology MP:0004288 abnormal spiral ligament morphology MP:0004288 any structural anomaly in the thickened periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches https://orcid.org/0000-0002-6490-7723 any structural anomaly in the series of cavities (cochlea, vestibule, and semicircular canals) contained within the otic capsule of the petrous portion of the temporal bone; the bony labyrinth is filled with perilymph, in which the delicate, endolymph-filled membranous labyrinth is suspended abnormal labyrinthus osseus abnormal osseous labyrinth MPheno.ontology MP:0004289 abnormal bony labyrinth MP:0004289 any structural anomaly in the series of cavities (cochlea, vestibule, and semicircular canals) contained within the otic capsule of the petrous portion of the temporal bone; the bony labyrinth is filled with perilymph, in which the delicate, endolymph-filled membranous labyrinth is suspended https://orcid.org/0000-0002-6490-7723 any structural anomaly in the flat portion of the stapes that fits in the oval window abnormal base of stapes morphology abnormal basis stapedis morphology MPheno.ontology MP:0004290 abnormal stapes footplate morphology MP:0004290 any structural anomaly in the flat portion of the stapes that fits in the oval window https://orcid.org/0000-0002-6490-7723 true MP:0004291 any structural anomaly in the four types of fibrocytes (types I, II , III and IV) that constitute the spiral ligament MPheno.ontology MP:0004292 abnormal spiral ligament fibrocyte morphology MP:0004292 any structural anomaly in the four types of fibrocytes (types I, II , III and IV) that constitute the spiral ligament https://orcid.org/0000-0002-6490-7723 any structural anomaly of type I spiral ligament fibrocytes which occupy the region beneath the stria vascularis MPheno.ontology MP:0004293 abnormal type I spiral ligament fibrocytes MP:0004293 any structural anomaly of type I spiral ligament fibrocytes which occupy the region beneath the stria vascularis https://orcid.org/0000-0002-6490-7723 any structural anomaly of type II spiral ligament fibrocytes found in the suprastrial zone and the central area of the spiral ligament beneath the spiral prominence MPheno.ontology MP:0004294 abnormal type II spiral ligament fibrocytes MP:0004294 any structural anomaly of type II spiral ligament fibrocytes found in the suprastrial zone and the central area of the spiral ligament beneath the spiral prominence https://orcid.org/0000-0002-6490-7723 any structural anomaly of type III spiral ligament fibrocytes which form a cell layer attached to the otic capsule MPheno.ontology MP:0004295 abnormal type III spiral ligament fibrocytes MP:0004295 any structural anomaly of type III spiral ligament fibrocytes which form a cell layer attached to the otic capsule https://orcid.org/0000-0002-6490-7723 any structural anomaly of type IV spiral ligament fibrocytes found in the triangular space inferior to the basilar crest MPheno.ontology MP:0004296 abnormal type IV spiral ligament fibrocytes MP:0004296 any structural anomaly of type IV spiral ligament fibrocytes found in the triangular space inferior to the basilar crest https://orcid.org/0000-0002-6490-7723 any structural anomaly of the sensory neurons of the dorsal root ganglia that sense body position and send information about how much the muscle is stretched to the spinal cord MPheno.ontology MP:0004297 abnormal proprioceptive neuron morphology MP:0004297 any structural anomaly of the sensory neurons of the dorsal root ganglia that sense body position and send information about how much the muscle is stretched to the spinal cord MGI:hdene loss of the group of bipolar sensory nerve cell bodies concerned with equilibration that form a swelling on the vestibular part of the eighth cranial nerve in the fundus of the internal acoustic meatus degeneration of Scarpa ganglion degeneration of ganglion vestibulare MPheno.ontology MP:0004298 vestibular ganglion degeneration MP:0004298 loss of the group of bipolar sensory nerve cell bodies concerned with equilibration that form a swelling on the vestibular part of the eighth cranial nerve in the fundus of the internal acoustic meatus https://orcid.org/0000-0002-6490-7723 absence of the group of bipolar sensory nerve cell bodies concerned with equilibration that form a swelling on the vestibular part of the eighth cranial nerve in the fundus of the internal acoustic meatus absent Scarpa ganglion absent ganglion vestibulare MPheno.ontology MP:0004299 absent vestibular ganglion MP:0004299 absence of the group of bipolar sensory nerve cell bodies concerned with equilibration that form a swelling on the vestibular part of the eighth cranial nerve in the fundus of the internal acoustic meatus https://orcid.org/0000-0002-6490-7723 any structural anomaly in the highly differentiated epithelial cells with distinctive morphological features surrounding the hair cells in the organ of Corti; inner hair cells (IHCs) are normally surrounded by (inner and outer) phalangeal cells while OHCs are in contact with Deiters and pillar cells; Hensen cells are positioned further laterally in the organ of Corti abnormal supporting cells of the organ of Corti MPheno.ontology MP:0004300 abnormal organ of Corti supporting cell morphology MP:0004300 any structural anomaly in the highly differentiated epithelial cells with distinctive morphological features surrounding the hair cells in the organ of Corti; inner hair cells (IHCs) are normally surrounded by (inner and outer) phalangeal cells while OHCs are in contact with Deiters and pillar cells; Hensen cells are positioned further laterally in the organ of Corti https://orcid.org/0000-0002-6490-7723 absence of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti absent supporting cells of the organ of Corti MPheno.ontology MP:0004301 absent organ of Corti supporting cells MP:0004301 absence of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti https://orcid.org/0000-0002-6490-7723 any structural anomaly in the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities abnormal phalangeal cell morphology MPheno.ontology MP:0004302 abnormal Deiters cell morphology MP:0004302 any structural anomaly in the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities https://orcid.org/0000-0002-6490-7723 any structural anomaly in the supporting cells that form the lateral border of the organ of Corti, immediately to the outer side of Deiters' cells MPheno.ontology MP:0004303 abnormal Hensen cell morphology MP:0004303 any structural anomaly in the supporting cells that form the lateral border of the organ of Corti, immediately to the outer side of Deiters' cells https://orcid.org/0000-0002-6490-7723 absence of the border of the spiral lamina, i.e. the thickened periosteum covering the upper plate of the bony spiral lamina of the cochlea absent abnormal limbus spiralis absent limbus laminae spiralis osseae MPheno.ontology MP:0004304 absent spiral limbus MP:0004304 absence of the border of the spiral lamina, i.e. the thickened periosteum covering the upper plate of the bony spiral lamina of the cochlea https://orcid.org/0000-0002-6490-7723 any structural anomaly in the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea; it is divided incompletely into two compartments by a winding shelf of bone, the bony spiral lamina abnormal canalis spiralis cochleae abnormal cochlear canal MPheno.ontology MP:0004305 abnormal Rosenthal canal morphology MP:0004305 any structural anomaly in the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea; it is divided incompletely into two compartments by a winding shelf of bone, the bony spiral lamina https://orcid.org/0000-0002-6490-7723 reduced size of the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea small canalis spiralis cochleae small cochlear canal MPheno.ontology MP:0004306 small Rosenthal canal MP:0004306 reduced size of the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea https://orcid.org/0000-0002-6490-7723 absence of the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea absent canalis spiralis cochleae MPheno.ontology absent cochlear canal MP:0004307 absent Rosenthal canal MP:0004307 absence of the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea https://orcid.org/0000-0002-6490-7723 any structural anomaly in the membrane extending from the bony spiral membrane to the basilar crest of the cochlea; it forms the greater part of the floor of the cochlear duct separating the latter from the scala tympani, and it supports the organ of Corti abnormal basilar lamina morphology abnormal basilar membrane of cochlear duct morphology abnormal lamina basilaris cochleae morphology abnormal lamina basilaris ductus cochlearis morphology abnormal membrana basilaris morphology MPheno.ontology MP:0004308 abnormal basilar membrane morphology MP:0004308 any structural anomaly in the membrane extending from the bony spiral membrane to the basilar crest of the cochlea; it forms the greater part of the floor of the cochlear duct separating the latter from the scala tympani, and it supports the organ of Corti https://orcid.org/0000-0002-6490-7723 absence of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear absent acoustic vesicle absent auditory vesicle absent otocyst MPheno.ontology MP:0004309 absent otic vesicle MP:0004309 absence of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear https://orcid.org/0000-0002-6490-7723 reduced size of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear small acoustic vesicle small auditory vesicle small otocyst MPheno.ontology MP:0004310 small otic vesicle MP:0004310 reduced size of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the otic vesicle, typically resulting in decreased size acoustic vesicle hypoplasia auditory vesicle hypoplasia hypoplastic otic vesicle hypoplastic otocyst otocyst hypoplasia MPheno.ontology MP:0004311 otic vesicle hypoplasia MP:0004311 decrease in the number of normal cells in normal arrangement in the otic vesicle, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 absence of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti MPheno.ontology MP:0004312 absent pillar cells MP:0004312 absence of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti https://orcid.org/0000-0002-6490-7723 absence of the group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia MPheno.ontology MP:0004313 absent vestibulocochlear ganglion MP:0004313 absence of the group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia https://orcid.org/0000-0002-6490-7723 absence of the cavity between the semicircular canals and the cochlea of the inner ear absent vestibule MPheno.ontology MP:0004314 absent inner ear vestibule MP:0004314 absence of the cavity between the semicircular canals and the cochlea of the inner ear https://orcid.org/0000-0002-6490-7723 absence of the smaller of the two sacs in the vestibule absent saccule MPheno.ontology MP:0004315 absent vestibular saccule MP:0004315 absence of the smaller of the two sacs in the vestibule https://orcid.org/0000-0002-6490-7723 enlarged size of the cavity between the semicircular canals and the cochlea of the inner ear enlarged saccule increased vestibular saccule size MPheno.ontology MP:0004316 enlarged vestibular saccule MP:0004316 enlarged size of the cavity between the semicircular canals and the cochlea of the inner ear https://orcid.org/0000-0002-6490-7723 reduced size of the cavity between the semicircular canals and the cochlea of the inner ear decreased vestibular saccule size reduced vestibular saccule size small saccule MPheno.ontology MP:0004317 small vestibular saccule MP:0004317 reduced size of the cavity between the semicircular canals and the cochlea of the inner ear https://orcid.org/0000-0002-6490-7723 absence of the middle of the three auditory ossicles MPheno.ontology MP:0004318 absent incus MP:0004318 absence of the middle of the three auditory ossicles https://orcid.org/0000-0002-6490-7723 absence of the largest of the three auditory ossicles, which resembles a club or hammer MPheno.ontology MP:0004319 absent malleus MP:0004319 absence of the largest of the three auditory ossicles, which resembles a club or hammer https://orcid.org/0000-0002-6490-7723 the appearance of an abnormal division in the long flat bone of the chest which articulates with clavicle and first seven rib pairs bifid sternum bifurcated sternum MPheno.ontology MP:0004320 split sternum MP:0004320 the appearance of an abnormal division in the long flat bone of the chest which articulates with clavicle and first seven rib pairs https://orcid.org/0000-0003-3691-0324 reduced length of the long flat bone of the chest which articulates with clavicle and first seven rib pairs decreased sternum length MPheno.ontology MP:0004321 short sternum MP:0004321 reduced length of the long flat bone of the chest which articulates with clavicle and first seven rib pairs https://orcid.org/0000-0003-3691-0324 any structural anomaly of one segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum abnormal sternebrae morphology MPheno.ontology MP:0004322 abnormal sternebra morphology MP:0004322 any structural anomaly of one segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the sternum, typically resulting in decreased size hypoplastic sternum MPheno.ontology MP:0004323 sternum hypoplasia MP:0004323 decrease in the number of normal cells in normal arrangement in the sternum, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 degeneration or loss of the sensory epithelial cells of the maculae and cristae of the membranous labyrinth of the inner ear which are normally in synaptic contact with the vestibular nerve MPheno.ontology MP:0004324 vestibular hair cell degeneration MP:0004324 degeneration or loss of the sensory epithelial cells of the maculae and cristae of the membranous labyrinth of the inner ear which are normally in synaptic contact with the vestibular nerve https://orcid.org/0000-0002-6490-7723 absence of the sensory epithelial cells of the maculae and cristae of the membranous labyrinth of the inner ear which are normally in synaptic contact with the vestibular nerve MPheno.ontology MP:0004325 absent vestibular hair cells MP:0004325 absence of the sensory epithelial cells of the maculae and cristae of the membranous labyrinth of the inner ear which are normally in synaptic contact with the vestibular nerve https://orcid.org/0000-0002-6490-7723 abnormal number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear MPheno.ontology MP:0004326 abnormal vestibular hair cell number MP:0004326 abnormal number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear https://orcid.org/0000-0002-6490-7723 increased number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear which are normally in synaptic contact with the vestibular nerve MPheno.ontology MP:0004327 increased vestibular hair cell number MP:0004327 increased number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear which are normally in synaptic contact with the vestibular nerve https://orcid.org/0000-0002-6490-7723 decreased number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear which are normally in synaptic contact with the vestibular nerve reduced vestibular hair cell number MPheno.ontology MP:0004328 decreased vestibular hair cell number MP:0004328 decreased number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear which are normally in synaptic contact with the vestibular nerve https://orcid.org/0000-0002-6490-7723 degeneration or loss of the smaller of the two sacs in the vestibule MPheno.ontology saccular degeneration MP:0004329 vestibular saccular degeneration MP:0004329 degeneration or loss of the smaller of the two sacs in the vestibule https://orcid.org/0000-0002-6490-7723 any structural anomaly of the oval neuroepithelial sensory receptor in the anterior wall of the saccule; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies abnormal macula sacculi abnormal saccular macula morphology MPheno.ontology abnormal saccular spot MP:0004330 abnormal vestibular saccular macula morphology MP:0004330 any structural anomaly of the oval neuroepithelial sensory receptor in the anterior wall of the saccule; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies https://orcid.org/0000-0002-6490-7723 degeneration or loss of the oval neuroepithelial sensory receptor in the anterior wall of the saccule saccular macula degeneration MPheno.ontology MP:0004331 vestibular saccular macula degeneration MP:0004331 degeneration or loss of the oval neuroepithelial sensory receptor in the anterior wall of the saccule https://orcid.org/0000-0002-6490-7723 degeneration or loss of the larger of the two sacs in the vestibule MPheno.ontology MP:0004332 utricular degeneration MP:0004332 degeneration or loss of the larger of the two sacs in the vestibule https://orcid.org/0000-0002-6490-7723 any structural anomaly of the neuroepithelial sensory receptor in the inferolateral wall of the utricle; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies; normally sensitive to linear acceleration in the longitudinal axis of the body and to gravitational influences abnormal macula utriculi morphology abnormal utricular spot morphology MPheno.ontology MP:0004333 abnormal utricular macula morphology MP:0004333 any structural anomaly of the neuroepithelial sensory receptor in the inferolateral wall of the utricle; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies; normally sensitive to linear acceleration in the longitudinal axis of the body and to gravitational influences https://orcid.org/0000-0002-6490-7723 degeneration or loss of the neuroepithelial sensory receptor in the inferolateral wall of the utricle MPheno.ontology MP:0004334 utricular macular degeneration MP:0004334 degeneration or loss of the neuroepithelial sensory receptor in the inferolateral wall of the utricle https://orcid.org/0000-0002-6490-7723 increased size of the larger of the two sacs in the vestibule increased utricle size MPheno.ontology MP:0004335 enlarged utricle MP:0004335 increased size of the larger of the two sacs in the vestibule https://orcid.org/0000-0002-6490-7723 reduced size of the larger of the two sacs in the vestibule decreased utricle size reduced utricle size MPheno.ontology MP:0004336 small utricle MP:0004336 reduced size of the larger of the two sacs in the vestibule https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the clavicle, typically resulting in decreased size hypoplastic clavicles MPheno.ontology MP:0004337 clavicle hypoplasia MP:0004337 decrease in the number of normal cells in normal arrangement in the clavicle, typically resulting in decreased size ISBN:0-683-40008-8 reduced size of one or both of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula MPheno.ontology MP:0004338 small clavicle MP:0004338 reduced size of one or both of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula ISBN:0-683-40008-8 missing one or both of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula MPheno.ontology MP:0004339 absent clavicle MP:0004339 missing one or both of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula ISBN:0-683-40008-8 reduced length of either or both of the large, flat bones of the back part of the shoulder MPheno.ontology MP:0004340 short scapula MP:0004340 reduced length of either or both of the large, flat bones of the back part of the shoulder https://orcid.org/0000-0003-3691-0324 missing either or both of the large, flat bones of the back part of the shoulder MPheno.ontology MP:0004341 absent scapula MP:0004341 missing either or both of the large, flat bones of the back part of the shoulder https://orcid.org/0000-0003-3691-0324 presence of a hole in either or both of the large, flat bones of the back part of the shoulder hole in scapula scapula foramen scapula hole scapular hole MPheno.ontology MP:0004342 scapular bone foramen MP:0004342 presence of a hole in either or both of the large, flat bones of the back part of the shoulder https://orcid.org/0000-0003-3691-0324 reduced size of either or both of the large, flat bones of the back part of the shoulder MPheno.ontology MP:0004343 small scapula MP:0004343 reduced size of either or both of the large, flat bones of the back part of the shoulder https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the scapular bone, typically resulting in decreased size hypoplastic scapular bone MPheno.ontology MP:0004344 scapular bone hypoplasia MP:0004344 decrease in the number of normal cells in normal arrangement in the scapular bone, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 any structural anomaly of the lateral end of the spine of the scapula which projects as a broad flattened process and articulates with the clavicle, and forms the point of the shoulder abnormal acromial process morphology MPheno.ontology MP:0004345 abnormal acromion morphology MP:0004345 any structural anomaly of the lateral end of the spine of the scapula which projects as a broad flattened process and articulates with the clavicle, and forms the point of the shoulder ISBN:0-683-40008-8 lack of the lateral end of the spine of the scapula which projects as a broad flattened process and articulates with the clavicle, and forms the point of the shoulder absence of acromion absent acromial process MPheno.ontology MP:0004346 absent acromion MP:0004346 lack of the lateral end of the spine of the scapula which projects as a broad flattened process and articulates with the clavicle, and forms the point of the shoulder ISBN:0-683-40008-8 any structural anomaly of the triangular ridge on the dorsal aspect of the scapula which separates the supra- from the infraspinatous fossa and where the trapezius and deltoid muscles are attached abnormal spine of scapula MPheno.ontology MP:0004347 abnormal scapular spine morphology MP:0004347 any structural anomaly of the triangular ridge on the dorsal aspect of the scapula which separates the supra- from the infraspinatous fossa and where the trapezius and deltoid muscles are attached ISBN:0-683-40008-8 increased length of the long bone of the thigh increased femur length MPheno.ontology MP:0004348 long femur MP:0004348 increased length of the long bone of the thigh ISBN:0-683-40008-8 missing the long bone of the thigh MPheno.ontology MP:0004349 absent femur MP:0004349 missing the long bone of the thigh ISBN:0-683-40008-8 increased length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below increased humerus length MPheno.ontology MP:0004350 long humerus MP:0004350 increased length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below ISBN:0-683-40008-8 reduced length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below decreased humerus length MPheno.ontology MP:0004351 short humerus MP:0004351 reduced length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below ISBN:0-683-40008-8 missing one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below MPheno.ontology MP:0004352 absent humerus MP:0004352 missing one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below ISBN:0-683-40008-8 any structural anomaly of a rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches abnormal deltoid crest abnormal deltoid eminence abnormal deltoid impression abnormal deltoid process abnormal deltopectoral crest morphology MPheno.ontology MP:0004353 abnormal deltoid tuberosity morphology MP:0004353 any structural anomaly of a rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches ISBN:0-683-40008-8 abnormal deltopectoral crest morphology UBERON:0002498 missing the rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches absent deltoid crest absent deltoid eminence absent deltoid impression absent deltoid process MPheno.ontology MP:0004354 absent deltoid tuberosity MP:0004354 missing the rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches ISBN:0-683-40008-8 reduced length of the short bone of the lateral forearm decreased redius length MPheno.ontology MP:0004355 short radius MP:0004355 reduced length of the short bone of the lateral forearm ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the radius, typically resulting in decreased size hypoplastic radius MPheno.ontology MP:0004356 radius hypoplasia MP:0004356 decrease in the number of normal cells in normal arrangement in the radius, typically resulting in decreased size ISBN:0-683-40008-8 increased length of the medial and larger of the two bones of the lower leg increased tibia length MPheno.ontology MP:0004357 long tibia MP:0004357 increased length of the medial and larger of the two bones of the lower leg ISBN:0-683-40008-8 increased curvature of the medial and larger of the two bones of the lower leg bent tibia MPheno.ontology MP:0004358 bowed tibia MP:0004358 increased curvature of the medial and larger of the two bones of the lower leg ISBN:0-683-40008-8 reduced length of the medial and larger of the two bones of the forearm decreased ulna length MPheno.ontology MP:0004359 short ulna MP:0004359 reduced length of the medial and larger of the two bones of the forearm ISBN:0-683-40008-8 missing the medial and larger of the two bones of the forearm MPheno.ontology MP:0004360 absent ulna MP:0004360 missing the medial and larger of the two bones of the forearm ISBN:0-683-40008-8 increased curvature of the medial and larger of the two bones of the forearm bent ulna MPheno.ontology MP:0004361 bowed ulna MP:0004361 increased curvature of the medial and larger of the two bones of the forearm ISBN:0-683-40008-8 degeneration or loss of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve cochlea auditory hair cell degeneration MPheno.ontology MP:0004362 cochlear hair cell degeneration MP:0004362 degeneration or loss of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 degeneration or loss of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph MPheno.ontology MP:0004363 stria vascularis degeneration MP:0004363 degeneration or loss of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph https://orcid.org/0000-0002-6490-7723 reduced thickness of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph MPheno.ontology MP:0004364 thin stria vascularis MP:0004364 reduced thickness of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph https://orcid.org/0000-0002-6490-7723 any structural anomaly of the polarized cells which are juxtaposed to fibrocytes in the underlying spiral ligament abnormal strial basal cells MPheno.ontology MP:0004365 abnormal strial basal cell morphology MP:0004365 any structural anomaly of the polarized cells which are juxtaposed to fibrocytes in the underlying spiral ligament CL:0002493 https://orcid.org/0000-0002-6490-7723 any structural anomaly in the polarized columnar cells of epithelial origin which cover the lateral surface of the cochlear duct, secrete potassium ions and form a continuous sheet in contact with the endolymph; marginal cells form extensive interdigitations with the basal and intermediate cells in the normal adult stria MPheno.ontology abnormal strial marginal cells MP:0004366 abnormal strial marginal cell morphology MP:0004366 any structural anomaly in the polarized columnar cells of epithelial origin which cover the lateral surface of the cochlear duct, secrete potassium ions and form a continuous sheet in contact with the endolymph; marginal cells form extensive interdigitations with the basal and intermediate cells in the normal adult stria https://orcid.org/0000-0002-6490-7723 any structural anomaly in the melanocytes known to migrate from the neural crest during ontogeny to become located between the epithelial marginal cell layer and the mesodermal basal cell layer within the intrastrial space; the predominant cellular component of the electrogenic machinery that generates an endocochlear potential (80-100 mV) abnormal cochlear melanocytes abnormal otic melanocytes abnormal stria vascularis intermediate cells abnormal strial intermediate cells abnormal strial melanocytes MPheno.ontology abnormal stria vascularis melanocytes MP:0004367 abnormal strial intermediate cell morphology MP:0004367 any structural anomaly in the melanocytes known to migrate from the neural crest during ontogeny to become located between the epithelial marginal cell layer and the mesodermal basal cell layer within the intrastrial space; the predominant cellular component of the electrogenic machinery that generates an endocochlear potential (80-100 mV) https://orcid.org/0000-0002-6490-7723 abnormal otic melanocytes ISBN:978-1-4051-2034-0 any structural anomaly of the blood vessels supplying the stria vascularis in the cochlea of the inner ear abnormal stria vascularis blood vessel morphology abnormal strial vascularization MPheno.ontology MP:0004368 abnormal stria vascularis vasculature morphology MP:0004368 any structural anomaly of the blood vessels supplying the stria vascularis in the cochlea of the inner ear https://orcid.org/0000-0002-6490-7723 absence of the larger of the two sacs in the vestibule MPheno.ontology MP:0004369 absent utricle MP:0004369 absence of the larger of the two sacs in the vestibule https://orcid.org/0000-0003-3691-0324 increased length of the medial and larger of the two bones of the forearm increased ulna length MPheno.ontology MP:0004370 long ulna MP:0004370 increased length of the medial and larger of the two bones of the forearm ISBN:0-683-40008-8 increased curvature of the long bone of the thigh bent femur MPheno.ontology MP:0004371 bowed femur MP:0004371 increased curvature of the long bone of the thigh ISBN:0-683-40008-8 increased curvature of the lateral and smaller bone of the lower limb bent fibula MPheno.ontology MP:0004372 bowed fibula MP:0004372 increased curvature of the lateral and smaller bone of the lower limb ISBN:0-683-40008-8 increased curvature of the bone of the forelimb that articulates with the scapula above and the radius and ulna below bent humerus MPheno.ontology MP:0004373 bowed humerus MP:0004373 increased curvature of the bone of the forelimb that articulates with the scapula above and the radius and ulna below ISBN:0-683-40008-8 increased curvature of the short bone of the lateral forearm bent radius MPheno.ontology MP:0004374 bowed radius MP:0004374 increased curvature of the short bone of the lateral forearm ISBN:0-683-40008-8 increased size of the bone forming the forehead and roof of the eye orbit increased frontal bone size MPheno.ontology MP:0004375 enlarged frontal bone MP:0004375 increased size of the bone forming the forehead and roof of the eye orbit ISBN:0-683-40008-8 absence of the bone forming the forehead and roof of the eye orbit MPheno.ontology MP:0004376 absent frontal bone MP:0004376 absence of the bone forming the forehead and roof of the eye orbit ISBN:0-683-40008-8 reduced size of the bone forming the forehead and roof of the eye orbit decreased frontal bone size reduced frontal bone size MPheno.ontology MP:0004377 small frontal bone MP:0004377 reduced size of the bone forming the forehead and roof of the eye orbit ISBN:0-683-40008-8 presence of a hole in the bone forming the forehead and roof of the eye orbit frontal bone hole hole in frontal bone MPheno.ontology MP:0004378 frontal bone foramen MP:0004378 presence of a hole in the bone forming the forehead and roof of the eye orbit ISBN:0-683-40008-8 increased width of the bone forming the forehead and roof of the eye orbit increased frontal bone width MPheno.ontology MP:0004379 wide frontal bone MP:0004379 increased width of the bone forming the forehead and roof of the eye orbit ISBN:0-683-40008-8 reduced length of the bone forming the forehead and roof of the eye orbit decreased frontal bone length reduced frontal bone length MPheno.ontology MP:0004380 short frontal bone MP:0004380 reduced length of the bone forming the forehead and roof of the eye orbit ISBN:0-683-40008-8 any structural anomaly of the cells that produce pigment in the hair follicles abnormal hair follicle melanocytes MPheno.ontology MP:0004381 abnormal hair follicle melanocyte morphology MP:0004381 any structural anomaly of the cells that produce pigment in the hair follicles MGI:llw2 failure of or anomaly in the biosynthetic pathway of melanin formation in hair follicles MPheno.ontology MP:0004382 abnormal hair follicle melanogenesis MP:0004382 failure of or anomaly in the biosynthetic pathway of melanin formation in hair follicles MGI:llw2 absence of the bone of the cranium that lies above and anterior to the occipital bone in some mammals MPheno.ontology MP:0004383 absent interparietal bone MP:0004383 absence of the bone of the cranium that lies above and anterior to the occipital bone in some mammals https://orcid.org/0000-0003-3691-0324 reduced size of the bone of the cranium that lies above and anterior to the occipital bone in some mammals decreased interparietal bone size reduced interparietal bone size MPheno.ontology MP:0004384 small interparietal bone MP:0004384 reduced size of the bone of the cranium that lies above and anterior to the occipital bone in some mammals https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the interparietal bone, typically resulting in decreased size hypoplastic interparietal bone MPheno.ontology MP:0004385 interparietal bone hypoplasia MP:0004385 decrease in the number of normal cells in normal arrangement in the interparietal bone, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 increased size of the bone of the cranium that lies above and anterior to the occipital bone in some mammals increased interparietal bone size MPheno.ontology MP:0004386 enlarged interparietal bone MP:0004386 increased size of the bone of the cranium that lies above and anterior to the occipital bone in some mammals https://orcid.org/0000-0003-3691-0324 any structural anomaly of the horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue abnormal prochordal plate morphology MPheno.ontology MP:0004387 abnormal prechordal plate morphology MP:0004387 any structural anomaly of the horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue ISBN:0838580343 absence of the horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue MPheno.ontology MP:0004388 absent prechordal plate MP:0004388 absence of the horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue ISBN:0838580343 any structural anomaly of the smallest bronchioles, which connect the terminal bronchioles to alveolar ducts and have alveoli rising from their walls MPheno.ontology MP:0004389 abnormal respiratory bronchiole morphology MP:0004389 any structural anomaly of the smallest bronchioles, which connect the terminal bronchioles to alveolar ducts and have alveoli rising from their walls ISBN:0-683-40008-8 MGI:brs any structural anomaly of the branch point connecting the respiratory bronchioles to the alveolar ducts MPheno.ontology MP:0004390 abnormal bronchoalveolar duct junction morphology MP:0004390 any structural anomaly of the branch point connecting the respiratory bronchioles to the alveolar ducts ISBN:0-683-40008-8 MGI:brs any structural anomaly of the tubes of the respiratory system that allow passage of air from the trachea to the terminal bronchioles airway malformation Fyler:4232 abnormal conducting airways abnormal respiratory conducting zone abnormal respiratory passage MPheno.ontology MP:0004391 abnormal respiratory conducting tube morphology MP:0004391 any structural anomaly of the tubes of the respiratory system that allow passage of air from the trachea to the terminal bronchioles https://orcid.org/0000-0003-3691-0324 any functional anomaly of the subset of T lymphocytes that express the CD8 marker on the cell surface abnormal single positive T cell physiology abnormal CD8+ T cell physiology abnormal CD8-positive T cell physiology MPheno.ontology MP:0004392 abnormal CD8-positive, alpha-beta T cell physiology MP:0004392 any functional anomaly of the subset of T lymphocytes that express the CD8 marker on the cell surface https://orcid.org/0000-0003-3691-0324 any structural anomaly in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there is a single row of flask-shaped inner hair cells tightly surrounded by supporting interphalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a more or less linear (or shallow) U-shaped pattern extend from the cell's surface through the cuticular plate into the endolymphic space inferior to the tectorial membrane abnormal cochlea auditory inner hair cell morphology abnormal cochlear IHC morphology abnormal cochlear inner hair cells MPheno.ontology MP:0004393 abnormal cochlear inner hair cell morphology MP:0004393 any structural anomaly in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there is a single row of flask-shaped inner hair cells tightly surrounded by supporting interphalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a more or less linear (or shallow) U-shaped pattern extend from the cell's surface through the cuticular plate into the endolymphic space inferior to the tectorial membrane https://orcid.org/0000-0002-6490-7723 abnormal number of the flask-shaped inner hair sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve abnormal auditory inner hair cell number MPheno.ontology MP:0004394 abnormal cochlear inner hair cell number MP:0004394 abnormal number of the flask-shaped inner hair sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve https://orcid.org/0000-0002-6490-7723 increased number (or more than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti extra cochlea IHCs extra row(s) of cochlea IHCs increased cochlea auditory IHC number increased cochlea auditory inner hair cell number supernumerary cochlea IHCs MPheno.ontology MP:0004395 increased cochlear inner hair cell number MP:0004395 increased number (or more than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti https://orcid.org/0000-0002-6490-7723 decreased number (or less than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti decreased cochlea auditory IHCs decreased cochlea auditory inner hair cell number decreased cochlear IHC number reduced cochlear inner hair cell number MPheno.ontology MP:0004396 decreased cochlear inner hair cell number MP:0004396 decreased number (or less than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti https://orcid.org/0000-0002-6490-7723 absence of the single row of flask-shaped inner hair sensory cells of the organ of Corti absent IHCs absent cochlea auditory IHCs absent cochlear IHCs MPheno.ontology MP:0004397 absent cochlear inner hair cells MP:0004397 absence of the single row of flask-shaped inner hair sensory cells of the organ of Corti https://orcid.org/0000-0002-6490-7723 degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti cochlea IHC degeneration cochlea auditory inner hair cell degeneration MPheno.ontology MP:0004398 cochlear inner hair cell degeneration MP:0004398 degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti https://orcid.org/0000-0002-6490-7723 any structural anomaly in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there are three rows of columnar outer hair cells largely surrounded by cortilymph and supporting phalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a V-shaped pattern extend from the cell's surface through the cuticular plate into the tectorial membrane abnormal cochlea auditory outer hair cell morphology abnormal cochlear OHC morphology abnormal cochlear outer hair cells MPheno.ontology MP:0004399 abnormal cochlear outer hair cell morphology MP:0004399 any structural anomaly in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there are three rows of columnar outer hair cells largely surrounded by cortilymph and supporting phalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a V-shaped pattern extend from the cell's surface through the cuticular plate into the tectorial membrane https://orcid.org/0000-0002-6490-7723 abnormal number of the columnar outer hair sensory cells of the organ of Corti abnormal auditory outer hair cell number MPheno.ontology MP:0004400 abnormal cochlear outer hair cell number MP:0004400 abnormal number of the columnar outer hair sensory cells of the organ of Corti https://orcid.org/0000-0002-6490-7723 increased number (or more than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti extra cochlea OHCs extra row(s) of cochlea OHCs increased cochlea auditory OHC number increased cochlea auditory outer hair cell number supernumerary cochlea OHCs MPheno.ontology MP:0004401 increased cochlear outer hair cell number MP:0004401 increased number (or more than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti https://orcid.org/0000-0002-6490-7723 decreased number (or less than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti decreased cochlea auditory OHC number decreased cochlea auditory outer hair cell number decreased cochlear OHC number reduced cochlear outer hair cell number MPheno.ontology MP:0004402 decreased cochlear outer hair cell number MP:0004402 decreased number (or less than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti https://orcid.org/0000-0002-6490-7723 absence of the columnar outer hair sensory cells of the organ of Corti absent cochlea auditory OHCs absent cochlear OHCs MPheno.ontology MP:0004403 absent cochlear outer hair cells MP:0004403 absence of the columnar outer hair sensory cells of the organ of Corti https://orcid.org/0000-0002-6490-7723 degeneration or loss of the columnar outer hair sensory cells of the organ of Corti cochlea OHC degeneration cochlea auditory outer hair cell degeneration MPheno.ontology MP:0004404 cochlear outer hair cell degeneration MP:0004404 degeneration or loss of the columnar outer hair sensory cells of the organ of Corti https://orcid.org/0000-0002-6490-7723 absence of the sensory epithelial cells of the cochlea; these cells are normally in synaptic contact with the auditory nerve absent cochlea auditory hair cells MPheno.ontology MP:0004405 absent cochlear hair cells MP:0004405 absence of the sensory epithelial cells of the cochlea; these cells are normally in synaptic contact with the auditory nerve https://orcid.org/0000-0002-6490-7723 abnormal number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve abnormal cochlea auditory hair cell number MPheno.ontology MP:0004406 abnormal cochlear hair cell number MP:0004406 abnormal number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve https://orcid.org/0000-0002-6490-7723 increased number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve increased cochlea auditory hair cell number MPheno.ontology MP:0004407 increased cochlear hair cell number MP:0004407 increased number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve https://orcid.org/0000-0002-6490-7723 decreased number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve decreased cochlea auditory hair cell number reduced cochlear hair cell number MPheno.ontology MP:0004408 decreased cochlear hair cell number MP:0004408 decreased number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve https://orcid.org/0000-0002-6490-7723 any structural anomaly in the specialized sensory hair cells of the ampullary crest of the ampulla of each semicircular duct MA:0002870 abnormal ampullary crest neuroepithelium morphology abnormal neuroepithelium of ampullary crest MPheno.ontology MP:0004409 abnormal crista ampullaris neuroepithelium morphology MP:0004409 any structural anomaly in the specialized sensory hair cells of the ampullary crest of the ampulla of each semicircular duct https://orcid.org/0000-0002-6490-7723 absence of the electrical potential difference between the endolymphatic and perilymphatic compartments of the cochlea, indicating a primary defect in fluid homeostasis of the inner ear absent endolymphatic potential loss of endocochlear potential MPheno.ontology MP:0004410 absent endocochlear potential MP:0004410 absence of the electrical potential difference between the endolymphatic and perilymphatic compartments of the cochlea, indicating a primary defect in fluid homeostasis of the inner ear https://orcid.org/0000-0002-6490-7723 reduction of the electrical potential difference between the endolymphatic and perilymphatic compartments of the cochlea decreased endolymphatic potential low endocochlear potential reduced endocochlear potential reduced endolymphatic potential MPheno.ontology MP:0004411 decreased endocochlear potential MP:0004411 reduction of the electrical potential difference between the endolymphatic and perilymphatic compartments of the cochlea https://orcid.org/0000-0002-6490-7723 any anomaly in the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound; the cochlear microphonic (CM) is an electric response dominated by OHC receptor potentials from the basal turn of the cochlea and provides a measure of transducer function in OHCs; in an active ear, CM waveforms show post-stimulus ringing (i.e. a cochlear echo) whereas in a passive ear system, CM decays at the cessation of the tone burst MPheno.ontology MP:0004412 abnormal cochlear microphonics MP:0004412 any anomaly in the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound; the cochlear microphonic (CM) is an electric response dominated by OHC receptor potentials from the basal turn of the cochlea and provides a measure of transducer function in OHCs; in an active ear, CM waveforms show post-stimulus ringing (i.e. a cochlear echo) whereas in a passive ear system, CM decays at the cessation of the tone burst https://orcid.org/0000-0002-6490-7723 absence or loss of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound absent cochlear potential MPheno.ontology MP:0004413 absent cochlear microphonics MP:0004413 absence or loss of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound https://orcid.org/0000-0002-6490-7723 reduction of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound decreased cochlear potential reduced cochlear microphonics reduced cochlear potential MPheno.ontology MP:0004414 decreased cochlear microphonics MP:0004414 reduction of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound https://orcid.org/0000-0002-6490-7723 anomaly in the combined potentials resulting from activation of the auditory division of the eighth cranial nerve; these potentials represent the summed activity of multiple cochlear afferent fibers discharging synchronously and thus assess the combined functional state of OHCs, IHCs, and their primary afferent innervation MPheno.ontology abnormal auditory nerve compound action potential MP:0004415 abnormal cochlear nerve compound action potential MP:0004415 anomaly in the combined potentials resulting from activation of the auditory division of the eighth cranial nerve; these potentials represent the summed activity of multiple cochlear afferent fibers discharging synchronously and thus assess the combined functional state of OHCs, IHCs, and their primary afferent innervation https://orcid.org/0000-0002-6490-7723 absence of the combined potentials resulting from activation of the auditory division of the eighth cranial nerve MPheno.ontology absent auditory nerve compound action potential MP:0004416 absent cochlear nerve compound action potential MP:0004416 absence of the combined potentials resulting from activation of the auditory division of the eighth cranial nerve https://orcid.org/0000-0002-6490-7723 reduction of the combined potentials resulting from activation of the auditory division of the eighth cranial nerve reduced cochlear nerve compound action potential MPheno.ontology decreased auditory nerve compound action potential reduced auditory nerve compound action potential MP:0004417 decreased cochlear nerve compound action potential MP:0004417 reduction of the combined potentials resulting from activation of the auditory division of the eighth cranial nerve https://orcid.org/0000-0002-6490-7723 reduced size of the paired membranous bones located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium decreased parietal bone size reduced parietal bone size small parietal bones MPheno.ontology MP:0004418 small parietal bone MP:0004418 reduced size of the paired membranous bones located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium https://orcid.org/0000-0002-6490-7723 absence of the paired membranous bones located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium absent parietal bones MPheno.ontology MP:0004419 absent parietal bone MP:0004419 absence of the paired membranous bones located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the parietal bone, typically resulting in decreased size hypoplastic parietal bone hypoplastic parietal bones MPheno.ontology MP:0004420 parietal bone hypoplasia MP:0004420 decrease in the number of normal cells in normal arrangement in the parietal bone, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increased size of the paired membranous bones located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium enlarged parietal bones increased parietal bone size MPheno.ontology MP:0004421 enlarged parietal bone MP:0004421 increased size of the paired membranous bones located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium https://orcid.org/0000-0002-6490-7723 reduced size of the large, irregular bone located at the base and side of the skull decreased temporal bone length reduced temporal bone length MPheno.ontology MP:0004422 small temporal bone MP:0004422 reduced size of the large, irregular bone located at the base and side of the skull ISBN:0-683-40008-8 any structural anomaly of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault abnormal os squamosum morphology abnormal pars squamosa (os temporale) morphology abnormal pars squamosa ossis temporalis morphology abnormal squamosal bone morphology abnormal squamous bone morphology abnormal squamous temporal bone morphology MPheno.ontology abnormal squama temporalis morphology abnormal temporal squama morphology MP:0004423 abnormal temporal bone squamous part morphology MP:0004423 any structural anomaly of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault http://www.medilexicon.com/dictionary/66008 https://en.wikipedia.org/wiki/Squamous_part_of_temporal_bone https://orcid.org/0000-0002-6490-7723 https://radiopaedia.org/articles/squamous-part-of-temporal-bone decrease in the number of normal cells in normal arrangement in the temporal bone, typically resulting in decreased size hypoplastic temporal bone MPheno.ontology MP:0004424 temporal bone hypoplasia MP:0004424 decrease in the number of normal cells in normal arrangement in the temporal bone, typically resulting in decreased size ISBN:0-683-40008-8 any structural anomaly in the utricle and saccule of the inner ear which possess otoliths and respond to linear acceleration and deceleration, including gravity MPheno.ontology MP:0004425 abnormal otolith organ morphology MP:0004425 any structural anomaly in the utricle and saccule of the inner ear which possess otoliths and respond to linear acceleration and deceleration, including gravity https://orcid.org/0000-0002-6490-7723 any structural anomaly in the portion of the membranous labyrinth concerned with the sense of hearing (vs. the vestibular labyrinth, which is concerned with the sense of equilibration) and innervated by the cochlear nerve; it is located within the cochlea of the bony labyrinth, and consists of the cochlear duct, which contains the spiral organ abnormal labyrinthus cochlearis abnormal organ of hearing MPheno.ontology MP:0004426 abnormal cochlear labyrinth morphology MP:0004426 any structural anomaly in the portion of the membranous labyrinth concerned with the sense of hearing (vs. the vestibular labyrinth, which is concerned with the sense of equilibration) and innervated by the cochlear nerve; it is located within the cochlea of the bony labyrinth, and consists of the cochlear duct, which contains the spiral organ https://orcid.org/0000-0002-6490-7723 any structural anomaly in the portion of the membranous labyrinth concerned with the sense of equilibration (vs. the cochlear labyrinth, which is concerned with the sense of hearing) and innervated by the vestibular nerve; it is located within the semicircular canals and vestibule of the bony labyrinth, and consists of the utricle, saccule, and the semicircular, utriculosaccular, and endolymphatic ducts abnormal labyrinthus vestibularis abnormal vestibular organ morphology MPheno.ontology MP:0004427 abnormal vestibular labyrinth morphology MP:0004427 any structural anomaly in the portion of the membranous labyrinth concerned with the sense of equilibration (vs. the cochlear labyrinth, which is concerned with the sense of hearing) and innervated by the vestibular nerve; it is located within the semicircular canals and vestibule of the bony labyrinth, and consists of the utricle, saccule, and the semicircular, utriculosaccular, and endolymphatic ducts https://orcid.org/0000-0002-6490-7723 any structural anomaly in the flask-shaped sensory cells of the maculae and cristae of the vestibular labyrinth of the inner ear, which are normally enclosed in calyx endings of afferent neurons; afferent and efferent nerve fibers of the vestibular nerve synapse with them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the otolithic membrane of the maculae or the cupula of the cristae MPheno.ontology MP:0004428 abnormal type I vestibular cell MP:0004428 any structural anomaly in the flask-shaped sensory cells of the maculae and cristae of the vestibular labyrinth of the inner ear, which are normally enclosed in calyx endings of afferent neurons; afferent and efferent nerve fibers of the vestibular nerve synapse with them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the otolithic membrane of the maculae or the cupula of the cristae https://orcid.org/0000-0002-6490-7723 any structural anomaly in the cylindrical sensory cells of the maculae and cristae of the vestibular labyrinth of the inner ear which are normally contacted by bouton endings of afferent and efferent neurons; afferent and efferent nerve fibers of the vestibular nerve synapse with them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the otolithic membrane of the maculae or the cupula of the cristae MPheno.ontology MP:0004429 abnormal type II vestibular cells MP:0004429 any structural anomaly in the cylindrical sensory cells of the maculae and cristae of the vestibular labyrinth of the inner ear which are normally contacted by bouton endings of afferent and efferent neurons; afferent and efferent nerve fibers of the vestibular nerve synapse with them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the otolithic membrane of the maculae or the cupula of the cristae https://orcid.org/0000-0002-6490-7723 any structural anomaly in the columnar cells located on the floor of the ductus cochlearis external to the spiral organ (also known as the organ of Corti) MPheno.ontology MP:0004430 abnormal Claudius cell morphology MP:0004430 any structural anomaly in the columnar cells located on the floor of the ductus cochlearis external to the spiral organ (also known as the organ of Corti) https://orcid.org/0000-0002-6490-7723 anomalous conversion of mechanical energy into electric(al) energy by sensory cells, such as auditory and vestibular hair cells, required for auditory sensation MPheno.ontology MP:0004431 abnormal hair cell mechanoelectric transduction MP:0004431 anomalous conversion of mechanical energy into electric(al) energy by sensory cells, such as auditory and vestibular hair cells, required for auditory sensation https://orcid.org/0000-0002-6490-7723 any functional anomaly in processes pertinent to the integrated function of cochlear hair cells i.e. the sensory cells in the spiral organ which are in synaptic contact with sensory as well as efferent fibers of the cochlear (auditory) nerve MPheno.ontology MP:0004432 abnormal cochlear hair cell physiology MP:0004432 any functional anomaly in processes pertinent to the integrated function of cochlear hair cells i.e. the sensory cells in the spiral organ which are in synaptic contact with sensory as well as efferent fibers of the cochlear (auditory) nerve https://orcid.org/0000-0002-6490-7723 any functional anomaly in processes pertinent to the function of cochlear IHCs which constitute the true sensory cell type sending impulses via the cochlear (auditory) nerve abnormal cochlear IHC physiology MPheno.ontology MP:0004433 abnormal cochlear inner hair cell physiology MP:0004433 any functional anomaly in processes pertinent to the function of cochlear IHCs which constitute the true sensory cell type sending impulses via the cochlear (auditory) nerve https://orcid.org/0000-0002-6490-7723 any functional anomaly in processes pertinent to the function of cochlear OHCs which are known to enhance the performance of the cochlea, both qualitatively (increased selectivity) and quantitatively (increased sensitivity); in addition to the mechanoelectric transduction required for auditory sensation, OHCs also perform electromechanical transduction, whereby transmembrane voltage drives rapid changes in the length and stiffness of OHCs at audio frequencies in vitro (electromotility) abnormal cochlear OHC physiology MPheno.ontology MP:0004434 abnormal cochlear outer hair cell physiology MP:0004434 any functional anomaly in processes pertinent to the function of cochlear OHCs which are known to enhance the performance of the cochlea, both qualitatively (increased selectivity) and quantitatively (increased sensitivity); in addition to the mechanoelectric transduction required for auditory sensation, OHCs also perform electromechanical transduction, whereby transmembrane voltage drives rapid changes in the length and stiffness of OHCs at audio frequencies in vitro (electromotility) https://orcid.org/0000-0002-6490-7723 anomalous motility of the cochlear OHCs in response to electrical stimulation; normally, the motile response (i.e. rapid change in length and stiffness of OHCs) is closely coupled to the changing transduction current and provides a region-specific amplification in the movement of the spiral organ that enhances transduction at the IHCs in that specific region of the cochlear spiral, increasing both sensitivity and specificity; electromotility is believed to arise through voltage-gated conformational changes in motor protein (prestin) or proteins located in the lateral wall of the OHC abnormal OHC electromotility abnormal electromechanical transduction MPheno.ontology MP:0004435 abnormal cochlear outer hair cell electromotility MP:0004435 anomalous motility of the cochlear OHCs in response to electrical stimulation; normally, the motile response (i.e. rapid change in length and stiffness of OHCs) is closely coupled to the changing transduction current and provides a region-specific amplification in the movement of the spiral organ that enhances transduction at the IHCs in that specific region of the cochlear spiral, increasing both sensitivity and specificity; electromotility is believed to arise through voltage-gated conformational changes in motor protein (prestin) or proteins located in the lateral wall of the OHC https://orcid.org/0000-0002-6490-7723 absence or loss of motility of the cochlear OHCs in response to electrical stimulation absent OHC electromotility MPheno.ontology MP:0004436 absent cochlear outer hair cell electromotility MP:0004436 absence or loss of motility of the cochlear OHCs in response to electrical stimulation https://orcid.org/0000-0002-6490-7723 reduced motility of the cochlear OHCs in response to electrical stimulation reduced OHC electromotility reduced cochlear outer hair cell electromotility MPheno.ontology MP:0004437 decreased cochlear outer hair cell electromotility MP:0004437 reduced motility of the cochlear OHCs in response to electrical stimulation https://orcid.org/0000-0002-6490-7723 anomalies in processes pertinent to the integrated function of the sensory epithelium of the maculae and cristae in the membranous labyrinth of the inner ear MPheno.ontology MP:0004438 abnormal vestibular hair cell physiology MP:0004438 anomalies in processes pertinent to the integrated function of the sensory epithelium of the maculae and cristae in the membranous labyrinth of the inner ear https://orcid.org/0000-0002-6490-7723 absence of this cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible; gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments MPheno.ontology MP:0004439 absent Meckel's cartilage MP:0004439 absence of this cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible; gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments ISBN:0-683-40008-8 absence of the bone at the lower, posterior part of the skull MPheno.ontology MP:0004440 absent occipital bone MP:0004440 absence of the bone at the lower, posterior part of the skull ISBN:0-683-40008-8 reduced size of the bone at the lower, posterior part of the skull decreased occipital bone size reduced occipital bone size MPheno.ontology MP:0004441 small occipital bone MP:0004441 reduced size of the bone at the lower, posterior part of the skull ISBN:0-683-40008-8 presence of a hole in the bone at the lower, posterior part of the skull hole in occipital bone occipital bone hole MPheno.ontology MP:0004442 occipital bone foramen MP:0004442 presence of a hole in the bone at the lower, posterior part of the skull ISBN:0-683-40008-8 absence of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young MPheno.ontology MP:0004443 absent supraoccipital bone MP:0004443 absence of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young https://orcid.org/0000-0003-3691-0324 reduced size of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young decreased supraoccipital bone size reduced supraoccipital bone size MPheno.ontology MP:0004444 small supraoccipital bone MP:0004444 reduced size of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young https://orcid.org/0000-0003-3691-0324 reduced size of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young decreased exoccipital bone size reduced exoccipital bone size MPheno.ontology MP:0004445 small exoccipital bone MP:0004445 reduced size of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young ISBN:0-683-40008-8 the appearance of an abnormal division in the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young bifid exoccipital bone MPheno.ontology MP:0004446 split exoccipital bone MP:0004446 the appearance of an abnormal division in the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young ISBN:0-683-40008-8 reduced size of the bone in the base of the cranium, frequently forming a part of the occipital in the adult, but usually distinct in the young decreased basioccipital bone size reduced basioccipital bone size MPheno.ontology MP:0004447 small basioccipital bone MP:0004447 reduced size of the bone in the base of the cranium, frequently forming a part of the occipital in the adult, but usually distinct in the young ISBN:0-683-40008-8 any structural anomaly of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult MPheno.ontology MP:0004448 abnormal presphenoid bone morphology MP:0004448 any structural anomaly of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult ISBN:0-683-40008-8 absence of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult MPheno.ontology MP:0004449 absent presphenoid bone MP:0004449 absence of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the presphenoid bone, typically resulting in decreased size hypoplastic presphenoid bone MPheno.ontology MP:0004450 presphenoid bone hypoplasia MP:0004450 decrease in the number of normal cells in normal arrangement in the presphenoid bone, typically resulting in decreased size ISBN:0-683-40008-8 reduced length of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult decreased presphenoid bone length reduced presphenoid bone length MPheno.ontology MP:0004451 short presphenoid bone MP:0004451 reduced length of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult ISBN:0-683-40008-8 any structural anomaly of the process projecting downward from either side of the sphenoid bone, in vertebrates divided into two plates, an inner and an outer (sometimes called the lateral and medial); the posterior nares pass through the space, called the pterygoid fossa, between the processes MPheno.ontology MP:0004452 abnormal pterygoid process morphology MP:0004452 any structural anomaly of the process projecting downward from either side of the sphenoid bone, in vertebrates divided into two plates, an inner and an outer (sometimes called the lateral and medial); the posterior nares pass through the space, called the pterygoid fossa, between the processes ISBN:0-683-40008-8 any structural anomaly of the bone region which corresponds to the inner plate of the pterygoid process of the mammalian skull MPheno.ontology MP:0004453 abnormal pterygoid bone morphology MP:0004453 any structural anomaly of the bone region which corresponds to the inner plate of the pterygoid process of the mammalian skull ISBN:0-683-40008-8 absence of the process projecting downward from either side of the sphenoid bone, in vertebrates divided into two plates, an inner and an outer (sometimes called the lateral and medial); the posterior nares pass through the space, called the pterygoid fossa, between the processes MPheno.ontology MP:0004454 absent pterygoid process MP:0004454 absence of the process projecting downward from either side of the sphenoid bone, in vertebrates divided into two plates, an inner and an outer (sometimes called the lateral and medial); the posterior nares pass through the space, called the pterygoid fossa, between the processes ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the pterygoid bone, typically resulting in decreased size hypoplastic pterygoid bone MPheno.ontology MP:0004455 pterygoid bone hypoplasia MP:0004455 decrease in the number of normal cells in normal arrangement in the pterygoid bone, typically resulting in decreased size ISBN:0-683-40008-8 reduced size of the bone region which corresponds to the inner plate of the pterygoid process of the mammalian skull decreased pterygoid bone size reduced pterygoid bone size MPheno.ontology MP:0004456 small pterygoid bone MP:0004456 reduced size of the bone region which corresponds to the inner plate of the pterygoid process of the mammalian skull ISBN:0-683-40008-8 any structural anomaly of the bone that is situated in the orbit on either side of the presphenoid; it generally forms a part of the sphenoid in the adult, and may be independent in the young abnormal lesser wing of the sphenoid bone abnormal small wing of the sphenoid bone MPheno.ontology abnormal alae orbitales morphology MP:0004457 abnormal orbitosphenoid bone morphology MP:0004457 any structural anomaly of the bone that is situated in the orbit on either side of the presphenoid; it generally forms a part of the sphenoid in the adult, and may be independent in the young ISBN:0-683-40008-8 absence of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young MPheno.ontology MP:0004458 absent alisphenoid bone MP:0004458 absence of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young ISBN:0-683-40008-8 reduced size of either of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young decreased alisphenoid bone sze reduced alisphenoid bone sze MPheno.ontology MP:0004459 small alisphenoid bone MP:0004459 reduced size of either of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the alisphenoid bone, typically resulting in decreased size hypoplastic alisphenoid bone MPheno.ontology decreased alisphenoid bone cellularity MP:0004460 alisphenoid bone hypoplasia MP:0004460 decrease in the number of normal cells in normal arrangement in the alisphenoid bone, typically resulting in decreased size ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the basisphenoid bone, typically resulting in decreased size hypoplastic basisphenoid bone MPheno.ontology decreased basisphenoid bone cellularity MP:0004461 basisphenoid bone hypoplasia MP:0004461 decrease in the number of normal cells in normal arrangement in the basisphenoid bone, typically resulting in decreased size ISBN:0-683-40008-8 reduced size of part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone decreased basisphenoid bone sze reduced basisphenoid bone sze MPheno.ontology MP:0004462 small basisphenoid bone MP:0004462 reduced size of part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone ISBN:0-683-40008-8 the presence of one or more holes in part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone basisphenoid bone hole hole in basisphenoid bone MPheno.ontology MP:0004463 basisphenoid bone foramen MP:0004463 the presence of one or more holes in part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone ISBN:0-683-40008-8 absence of tight junctions from the basal cell layer of stria vascularis, resulting in destruction of the paracellular barrier between basal cells; loss of basal cell tight junctions renders the intrastrial space open to perilymph and abolishes its electrical isolation MPheno.ontology MP:0004464 absent strial basal cell tight junctions MP:0004464 absence of tight junctions from the basal cell layer of stria vascularis, resulting in destruction of the paracellular barrier between basal cells; loss of basal cell tight junctions renders the intrastrial space open to perilymph and abolishes its electrical isolation https://orcid.org/0000-0002-6490-7723 degeneration or loss of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti degeneration of the supporting cells of the organ of Corti MPheno.ontology MP:0004465 degeneration of organ of Corti supporting cells MP:0004465 degeneration or loss of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti https://orcid.org/0000-0002-6490-7723 reduced height of the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve short cochlea auditory outer hair cells short cochlear OHCs MPheno.ontology MP:0004466 short cochlear outer hair cells MP:0004466 reduced height of the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve https://orcid.org/0000-0003-3691-0324 absence of the quadrilateral bone that forms the prominence of the cheek MPheno.ontology MP:0004467 absent zygomatic bone MP:0004467 absence of the quadrilateral bone that forms the prominence of the cheek ISBN:0-683-40008-8 reduced size of the quadrilateral bone that forms the prominence of the cheek MPheno.ontology MP:0004468 small zygomatic bone MP:0004468 reduced size of the quadrilateral bone that forms the prominence of the cheek ISBN:0-683-40008-8 any structural anomaly of the bony arch in vertebrates that extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone abnormal malar arch morphology abnormal zygoma morphology MPheno.ontology MP:0004469 abnormal zygomatic arch morphology MP:0004469 any structural anomaly of the bony arch in vertebrates that extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone ISBN:0-683-40008-8 reduced size of either of two rectangular bone plates forming the bridge of the nose decreased nasal bone size reduced nasal bone size MPheno.ontology MP:0004470 small nasal bone MP:0004470 reduced size of either of two rectangular bone plates forming the bridge of the nose ISBN:0-683-40008-8 reduced length of either of two rectangular bone plates forming the bridge of the nose decreased nasal bone length MPheno.ontology MP:0004471 short nasal bone MP:0004471 reduced length of either of two rectangular bone plates forming the bridge of the nose ISBN:0-683-40008-8 increased width of either of two rectangular bone plates forming the bridge of the nose wide nasal bone MPheno.ontology MP:0004472 broad nasal bone MP:0004472 increased width of either of two rectangular bone plates forming the bridge of the nose ISBN:0-683-40008-8 absence of either of two rectangular bone plates forming the bridge of the nose MPheno.ontology MP:0004473 absent nasal bone MP:0004473 absence of either of two rectangular bone plates forming the bridge of the nose ISBN:0-683-40008-8 increased size of either of two rectangular bone plates forming the bridge of the nose increased nasal bone size MPheno.ontology MP:0004474 enlarged nasal bone MP:0004474 increased size of either of two rectangular bone plates forming the bridge of the nose ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the palatine bone, typically resulting in decreased size hypoplastic palatine bone MPheno.ontology MP:0004475 palatine bone hypoplasia MP:0004475 decrease in the number of normal cells in normal arrangement in the palatine bone, typically resulting in decreased size ISBN:0-683-40008-8 absence of either of two irregularly L-shaped bones located posterior to the maxilla that in part forms the back of the hard palate, part of the nasal cavity and part of the floor of the orbits MPheno.ontology MP:0004476 absent palatine bone MP:0004476 absence of either of two irregularly L-shaped bones located posterior to the maxilla that in part forms the back of the hard palate, part of the nasal cavity and part of the floor of the orbits ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the turbinate, typically resulting in decreased size hypoplastic turbinate MPheno.ontology MP:0004477 turbinate hypoplasia MP:0004477 decrease in the number of normal cells in normal arrangement in the turbinate, typically resulting in decreased size ISBN:0-683-40008-8 greater than the expected number of a usually benign tumor found in the testis that is the result of an anomaly of germ cell development, occurring in a specific population in a given time period; teratomas typically contains a diversity of tissues often representing all organ systems such as hair, teeth, bone, thyroid, or nerve tissue MPheno.ontology testicular teratoma MP:0004478 increased testicular teratoma incidence MP:0004478 greater than the expected number of a usually benign tumor found in the testis that is the result of an anomaly of germ cell development, occurring in a specific population in a given time period; teratomas typically contains a diversity of tissues often representing all organ systems such as hair, teeth, bone, thyroid, or nerve tissue MGI:llw2 any structural anomaly of the oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes abnormal fenestra of the vestibule abnormal fenestra ovalis abnormal fenestra vestibuli abnormal vestibular window MPheno.ontology MP:0004479 abnormal oval window morphology MP:0004479 any structural anomaly of the oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes ISBN:0-683-40008-8 any structural anomaly of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; it serves to regulate fluid pressure in the inner ear abnormal cochlear window abnormal fenestra cochleae abnormal fenestra of the cochlea abnormal fenestra rotunda MPheno.ontology MP:0004480 abnormal round window morphology MP:0004480 any structural anomaly of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; it serves to regulate fluid pressure in the inner ear ISBN:0-683-40008-8 any structural anomaly of the conjunctival layer of epithelial cells covering inner surface of the eyelid and the front of the eyeball except over the cornea MPheno.ontology MP:0004481 abnormal conjunctival epithelium morphology MP:0004481 any structural anomaly of the conjunctival layer of epithelial cells covering inner surface of the eyelid and the front of the eyeball except over the cornea https://orcid.org/0000-0003-3691-0324 any structural anomaly of the long, spindle-shaped cells arranged in parallel rows, oriented with their vertical axis perpendicular to the luminal surface of the spiral limbus; they secrete potassium ions into the endolymph and secrete the tectorial membrane MPheno.ontology MP:0004482 abnormal interdental cell morphology MP:0004482 any structural anomaly of the long, spindle-shaped cells arranged in parallel rows, oriented with their vertical axis perpendicular to the luminal surface of the spiral limbus; they secrete potassium ions into the endolymph and secrete the tectorial membrane https://orcid.org/0000-0003-3691-0324 absence of the long, spindle-shaped cells arranged in parallel rows, oriented with their vertical axis perpendicular to the luminal surface of the spiral limbus; they secrete potassium ions into the endolymph and secrete the tectorial membrane MPheno.ontology MP:0004483 absent interdental cells MP:0004483 absence of the long, spindle-shaped cells arranged in parallel rows, oriented with their vertical axis perpendicular to the luminal surface of the spiral limbus; they secrete potassium ions into the endolymph and secrete the tectorial membrane https://orcid.org/0000-0003-3691-0324 change in the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding altered response of heart to induced stress MPheno.ontology MP:0004484 abnormal response of heart to induced stress MP:0004484 change in the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding https://orcid.org/0000-0003-3691-0324 increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding decreased protection of heart to induced stress MPheno.ontology MP:0004485 increased response of heart to induced stress MP:0004485 increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding https://orcid.org/0000-0003-3691-0324 decrease in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding increased protection of heart from induced stress reduced response of heart to induced stress MPheno.ontology MP:0004486 decreased response of heart to induced stress MP:0004486 decrease in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding https://orcid.org/0000-0003-3691-0324 degeneration or loss of type I spiral ligament fibrocytes which occupy the region beneath the stria vascularis MPheno.ontology MP:0004487 type I spiral ligament fibrocyte degeneration MP:0004487 degeneration or loss of type I spiral ligament fibrocytes which occupy the region beneath the stria vascularis https://orcid.org/0000-0002-6490-7723 degeneration or loss of type II spiral ligament fibrocytes found in the suprastrial zone and the central area of the spiral ligament beneath the spiral prominence MPheno.ontology MP:0004488 type II spiral ligament fibrocyte degeneration MP:0004488 degeneration or loss of type II spiral ligament fibrocytes found in the suprastrial zone and the central area of the spiral ligament beneath the spiral prominence https://orcid.org/0000-0002-6490-7723 degeneration or loss of type III spiral ligament fibrocytes which form a cell layer attached to the otic capsule MPheno.ontology MP:0004489 type III spiral ligament fibrocyte degeneration MP:0004489 degeneration or loss of type III spiral ligament fibrocytes which form a cell layer attached to the otic capsule https://orcid.org/0000-0002-6490-7723 degeneration or loss of type IV spiral ligament fibrocytes found in the triangular space inferior to the basilar crest MPheno.ontology MP:0004490 type IV spiral ligament fibrocyte degeneration MP:0004490 degeneration or loss of type IV spiral ligament fibrocytes found in the triangular space inferior to the basilar crest https://orcid.org/0000-0002-6490-7723 misorientation or rotation of outer hair cell (OHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium MPheno.ontology MP:0004491 abnormal orientation of outer hair cell stereociliary bundles MP:0004491 misorientation or rotation of outer hair cell (OHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium https://orcid.org/0000-0002-6490-7723 misorientation or rotation of inner hair cell (IHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium MPheno.ontology MP:0004492 abnormal orientation of inner hair cell stereociliary bundles MP:0004492 misorientation or rotation of inner hair cell (IHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium https://orcid.org/0000-0002-6490-7723 the luminal space of the cochlea is increased in volume or area, usually with an increase in contained fluid cochlea dilation cochlear dilation dilated cochleas MPheno.ontology MP:0004493 dilated cochlea MP:0004493 the luminal space of the cochlea is increased in volume or area, usually with an increase in contained fluid https://orcid.org/0000-0003-3691-0324 aberrant secretion across synapses of the major excitatory neurotransmitter of the central nervous system (CNS), which acts through both ligand gated ion channels (ionotropic receptors) and G protein-coupled (metabotropic) receptors MPheno.ontology MP:0004494 abnormal synaptic glutamate release MP:0004494 aberrant secretion across synapses of the major excitatory neurotransmitter of the central nervous system (CNS), which acts through both ligand gated ion channels (ionotropic receptors) and G protein-coupled (metabotropic) receptors MGI:brs reduced secretion across synapses of the major excitatory neurotransmitter of the central nervous system (CNS), which acts through both ligand gated ion channels (ionotropic receptors) and G protein-coupled (metabotropic) receptors reduced synaptic glutamate release MPheno.ontology MP:0004495 decreased synaptic glutamate release MP:0004495 reduced secretion across synapses of the major excitatory neurotransmitter of the central nervous system (CNS), which acts through both ligand gated ion channels (ionotropic receptors) and G protein-coupled (metabotropic) receptors MGI:brs abnormal number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti abnormal supporting cell number of the organ of Corti MPheno.ontology abnormal number of supporting cells of the organ of Corti MP:0004496 abnormal organ of Corti supporting cell number MP:0004496 abnormal number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti https://orcid.org/0000-0002-6490-7723 decreased number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti decreased number of supporting cells of the organ of Corti decreased supporting cell number of the organ of Corti MPheno.ontology reduced supporting cell number of the organ of Corti MP:0004497 decreased organ of Corti supporting cell number MP:0004497 decreased number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti https://orcid.org/0000-0002-6490-7723 increased number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti increased number of supporting cells of the organ of Corti increased supporting cell number of the organ of Corti MPheno.ontology MP:0004498 increased organ of Corti supporting cell number MP:0004498 increased number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti https://orcid.org/0000-0002-6490-7723 higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens increased incidence of chemically-induced tumors increased incidence of chemically-induced tumours increased incidence of tumours by chemical induction MPheno.ontology MP:0004499 increased incidence of tumors by chemical induction MP:0004499 higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens https://orcid.org/0000-0003-4606-0597 higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays increased incidence of ionizing radiation-induced tumors increased incidence of ionizing radiation-induced tumours increased incidence of tumours by ionizing radiation induction MPheno.ontology MP:0004500 increased incidence of tumors by ionizing radiation induction MP:0004500 higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays https://orcid.org/0000-0003-4606-0597 higher than normal frequency of tumor incidence induced by exposure to ultraviolet light increased incidence of UV-induced tumors increased incidence of UV-induced tumours increased incidence of tumours by UV-induction MPheno.ontology MP:0004501 increased incidence of tumors by UV-induction MP:0004501 higher than normal frequency of tumor incidence induced by exposure to ultraviolet light https://orcid.org/0000-0003-4606-0597 lower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens decreased incidence of chemically-induced tumors decreased incidence of chemically-induced tumours decreased incidence of tumours by chemical induction reduced incidence of chemically-induced tumors reduced incidence of chemically-induced tumours MPheno.ontology MP:0004502 decreased incidence of tumors by chemical induction MP:0004502 lower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens https://orcid.org/0000-0003-4606-0597 lower than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays decreased incidence of ionizing radiation-induced tumors decreased incidence of ionizing radiation-induced tumours decreased incidence of tumours by ionizing radiation induction reduced incidence of ionizing radiation-induced tumors reduced incidence of ionizing radiation-induced tumours MPheno.ontology MP:0004503 decreased incidence of tumors by ionizing radiation induction MP:0004503 lower than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays https://orcid.org/0000-0003-4606-0597 lower than normal frequency of tumor incidence induced by exposure to ultraviolet light decreased incidence of UV-induced tumors decreased incidence of UV-induced tumours decreased incidence of tumours by UV induction reduced incidence of UV-induced tumors reduced incidence of UV-induced tumours reduced incidence of tumors by UV induction reduced incidence of tumours by UV induction MPheno.ontology MP:0004504 decreased incidence of tumors by UV induction MP:0004504 lower than normal frequency of tumor incidence induced by exposure to ultraviolet light https://orcid.org/0000-0003-4606-0597 reduced number of the capillary loops of the kidney that normally function as a filtration unit decreased number of renal glomeruli reduced glomerulus number reduced number of glomeruli reduced renal glomerulus number MPheno.ontology MP:0004505 decreased renal glomerulus number MP:0004505 reduced number of the capillary loops of the kidney that normally function as a filtration unit https://orcid.org/0009-0005-7755-8314 any structural anomaly of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis abnormal pubic bone morphology MPheno.ontology MP:0004506 abnormal pubis morphology MP:0004506 any structural anomaly of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis https://orcid.org/0009-0005-7755-8314 any structural anomaly of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis MPheno.ontology MP:0004507 abnormal ischium morphology MP:0004507 any structural anomaly of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis https://orcid.org/0009-0005-7755-8314 any structural anomaly of the bones of the shoulder by which the limbs attach to the axial skeleton abnormal shoulder bone morphology abnormal shoulder girdle morphology shoulder bone dysplasia MPheno.ontology MP:0004508 abnormal pectoral girdle bone morphology MP:0004508 any structural anomaly of the bones of the shoulder by which the limbs attach to the axial skeleton MGI:cwg any structural anomaly of the bones of the pelvis by which the limbs attach to the axial skeleton abnormal coxal bones abnormal innominate bones abnormal pelvis bones abnormal pelvic bone morphology pelvic girdle bone dysplasia MPheno.ontology MP:0004509 abnormal pelvic girdle bone morphology MP:0004509 any structural anomaly of the bones of the pelvis by which the limbs attach to the axial skeleton MGI:cwg inflammation of muscle; local accumulation of fluid, plasma proteins, and leukocytes in muscle MP:0001865 MP:0004511 muscle inflammation skeletal muscle inflammation striated muscle inflammation MPheno.ontology MP:0004510 myositis MP:0004510 inflammation of muscle; local accumulation of fluid, plasma proteins, and leukocytes in muscle ISBN:0-683-40008-8 true MP:0004511 loss of the sense of smell MPheno.ontology MP:0004512 anosmia MP:0004512 loss of the sense of smell MGI:mberry loss of the ability to detect pheromones through the vomeronasal system MPheno.ontology MP:0004513 avnosmia MP:0004513 loss of the ability to detect pheromones through the vomeronasal system PMID:12214233 https://orcid.org/0000-0003-3691-0324 slow or difficult delivery of offspring and/or placenta MPheno.ontology MP:0004514 dystocia MP:0004514 slow or difficult delivery of offspring and/or placenta MESH:C13.703.420.288 any structural anomaly or disruption of the typical staircase-like arrangement of the mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of vestibular hair cells of the utricle and saccule abnormal vestibular hair cell stereocilia abnormal vestibular hair cell stereociliary bundles MPheno.ontology abnormal vestibular hair bundles MP:0004515 abnormal vestibular hair cell stereociliary bundle morphology MP:0004515 any structural anomaly or disruption of the typical staircase-like arrangement of the mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of vestibular hair cells of the utricle and saccule https://orcid.org/0000-0002-6490-7723 coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on vestibular hair cells, often resulting in giant stereocilia fused vestibular stereocilia fusion of vestibular hair cell stereocilia giant vestibular stereocilia vestibular hair cell stereocilia fusion MPheno.ontology MP:0004516 fused vestibular hair cell stereocilia MP:0004516 coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on vestibular hair cells, often resulting in giant stereocilia https://orcid.org/0000-0002-6490-7723 decreased number of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on vestibular hair cells in a staircase-like pattern reduced vestibular hair cell stereocilia number MPheno.ontology MP:0004517 decreased vestibular hair cell stereocilia number MP:0004517 decreased number of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on vestibular hair cells in a staircase-like pattern https://orcid.org/0000-0002-6490-7723 complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern MPheno.ontology MP:0004518 absent vestibular hair cell stereocilia MP:0004518 complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern https://orcid.org/0000-0002-6490-7723 reduced thickness of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern MPheno.ontology MP:0004519 thin vestibular hair cell stereocilia MP:0004519 reduced thickness of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern https://orcid.org/0000-0002-6490-7723 reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern MPheno.ontology MP:0004520 short vestibular hair cell stereocilia MP:0004520 reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern https://orcid.org/0000-0002-6490-7723 any structural anomaly or disruption of the typical pattern of arrangement of mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of cochlear inner and outer hair cells abnormal cochlear hair bundles abnormal cochlear hair cell stereocilia abnormal cochlear hair cell stereociliary bundles MPheno.ontology MP:0004521 abnormal cochlear hair cell stereociliary bundle morphology MP:0004521 any structural anomaly or disruption of the typical pattern of arrangement of mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of cochlear inner and outer hair cells https://orcid.org/0000-0002-6490-7723 misorientation or rotation of inner and/or outer hair cell stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium MPheno.ontology MP:0004522 abnormal orientation of cochlear hair cell stereociliary bundles MP:0004522 misorientation or rotation of inner and/or outer hair cell stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium https://orcid.org/0000-0002-6490-7723 decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner and outer hair cells reduced cochlear hair cell stereocilia number MPheno.ontology MP:0004523 decreased cochlear hair cell stereocilia number MP:0004523 decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner and outer hair cells https://orcid.org/0000-0002-6490-7723 reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells MPheno.ontology MP:0004524 short cochlear hair cell stereocilia MP:0004524 reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells https://orcid.org/0000-0002-6490-7723 reduced thickness of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells MPheno.ontology MP:0004525 thin cochlear hair cell stereocilia MP:0004525 reduced thickness of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells https://orcid.org/0000-0002-6490-7723 complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells absent cochlear hair cell stereocilium MPheno.ontology MP:0004526 absent cochlear hair cell stereocilia MP:0004526 complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells https://orcid.org/0000-0002-6490-7723 any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia abnormal OHC bundles abnormal OHC stereocilia abnormal OHC stereociliary bundles MPheno.ontology MP:0004527 abnormal outer hair cell stereociliary bundle morphology MP:0004527 any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia https://orcid.org/0000-0002-6490-7723 coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear outer hair cells, often resulting in giant stereocilia fused OHC stereocilia fusion of outer hair cell stereocilia giant OHC stereocilia outer hair cell stereocilia fusion MPheno.ontology MP:0004528 fused outer hair cell stereocilia MP:0004528 coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear outer hair cells, often resulting in giant stereocilia https://orcid.org/0000-0002-6490-7723 decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear outer hair cells reduced outer hair cell stereocilia number MPheno.ontology MP:0004529 decreased outer hair cell stereocilia number MP:0004529 decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear outer hair cells https://orcid.org/0000-0002-6490-7723 complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells MPheno.ontology MP:0004530 absent outer hair cell stereocilia MP:0004530 complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells https://orcid.org/0000-0002-6490-7723 reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells decreased OHC stereocilia length reduced OHC stereocilium length MPheno.ontology MP:0004531 short outer hair cell stereocilia MP:0004531 reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells https://orcid.org/0000-0002-6490-7723 any structural anomaly or disruption of the typically linear or U-shaped pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear IHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia abnormal IHC bundles abnormal IHC stereocilia abnormal IHC stereociliary bundles MPheno.ontology MP:0004532 abnormal inner hair cell stereociliary bundle morphology MP:0004532 any structural anomaly or disruption of the typically linear or U-shaped pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear IHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia https://orcid.org/0000-0002-6490-7723 coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner hair cells, often resulting in giant stereocilia fused IHC stereocilia fusion of inner hair cell stereocilia giant IHC stereocilia MPheno.ontology MP:0004533 fused inner hair cell stereocilia MP:0004533 coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner hair cells, often resulting in giant stereocilia https://orcid.org/0000-0002-6490-7723 decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner hair cells reduced inner hair cell stereocilia number MPheno.ontology MP:0004534 decreased inner hair cell stereocilia number MP:0004534 decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner hair cells https://orcid.org/0000-0002-6490-7723 complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner hair cells MPheno.ontology MP:0004535 absent inner hair cell stereocilia MP:0004535 complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner hair cells https://orcid.org/0000-0002-6490-7723 reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner hair cells MPheno.ontology MP:0004536 short inner hair cell stereocilia MP:0004536 reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner hair cells https://orcid.org/0000-0002-6490-7723 any structural anomaly of the bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate abnormal horizontal plate abnormal palatal process of palatine bone abnormal palatine palatal process abnormal palatine shelf morphology MPheno.ontology MP:0004537 abnormal palatine bone horizontal plate morphology MP:0004537 any structural anomaly of the bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate abnormal maxillary palatal process abnormal palatal process of maxilla abnormal palatine process MPheno.ontology MP:0004538 abnormal maxillary shelf morphology MP:0004538 any structural anomaly of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 missing the upper bony framework of the mouth where the superior teeth are held absence of upper jaw absent upper jaw agenesis of the maxilla agenesis of the upper jaw bone aplasia of the maxilla aplasia of the upper jaw bone maxillary agenesis maxillary agnathia maxillary aplasia MPheno.ontology MP:0004539 absent maxilla MP:0004539 missing the upper bony framework of the mouth where the superior teeth are held ISBN:0-683-40008-8 reduced size of the upper bony framework of the mouth where the superior teeth are held decreased maxilla size MPheno.ontology MP:0004540 small maxilla MP:0004540 reduced size of the upper bony framework of the mouth where the superior teeth are held ISBN:0-683-40008-8 absence of the tube connecting the tympanic cavity and the nasopharynx absent Eustachian tube absent pharyngotympanic tube MPheno.ontology MP:0004541 absent auditory tube MP:0004541 absence of the tube connecting the tympanic cavity and the nasopharynx https://orcid.org/0000-0002-6490-7723 reduced ability or inability to execute the cellular exocytosis of a single, anterior secretory granule following a sperm's attachment to the zona pellucida surrounding an oocyte MPheno.ontology MP:0004542 impaired acrosome reaction MP:0004542 reduced ability or inability to execute the cellular exocytosis of a single, anterior secretory granule following a sperm's attachment to the zona pellucida surrounding an oocyte GO:0007340 https://orcid.org/0009-0005-7755-8314 anomaly in the normal function of spermatozoa MPheno.ontology MP:0004543 abnormal sperm physiology MP:0004543 anomaly in the normal function of spermatozoa https://orcid.org/0009-0005-7755-8314 absence of the part of the digestive canal through which food passes from the pharynx to the stomach absent oesophagus MPheno.ontology MP:0004544 absent esophagus MP:0004544 absence of the part of the digestive canal through which food passes from the pharynx to the stomach https://orcid.org/0000-0002-6490-7723 increased size of the part of the digestive canal through which food passes from the pharynx to the stomach enlarged oesophagus increased esophagus size increased oesophagus size MPheno.ontology megaesophagus MP:0004545 enlarged esophagus MP:0004545 increased size of the part of the digestive canal through which food passes from the pharynx to the stomach https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the esophagus, typically resulting in increased size esophageal hyperplasia hyperplastic esophagus hyperplastic oesophagus oesophageal hyperplasia oesophagus hyperplasia MPheno.ontology MP:0004546 esophagus hyperplasia MP:0004546 increase in the number of normal cells in normal arrangement in the esophagus, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 a lesion on the mucosal surface of the esophagus, usually produced by the sloughing of inflammatory necrotic tissue oesophageal ulcer MPheno.ontology MP:0004547 esophageal ulcer MP:0004547 a lesion on the mucosal surface of the esophagus, usually produced by the sloughing of inflammatory necrotic tissue https://orcid.org/0000-0002-6490-7723 an expansion in the lumen volume of the part of the digestive canal through which food passes from the pharynx to the stomach dilated esophagi dilated oesophagus esophageal dilation esophagus dilation oesophageal dilation oesophagus dilation MPheno.ontology MP:0004548 dilated esophagus MP:0004548 an expansion in the lumen volume of the part of the digestive canal through which food passes from the pharynx to the stomach https://orcid.org/0000-0002-6490-7723 reduced size of the tube descending from the larynx and branching into the right and left main bronchi MPheno.ontology MP:0004549 small trachea MP:0004549 reduced size of the tube descending from the larynx and branching into the right and left main bronchi https://orcid.org/0000-0002-6490-7723 reduced length of the tube descending from the larynx and branching into the right and left main bronchi MPheno.ontology MP:0004550 short trachea MP:0004550 reduced length of the tube descending from the larynx and branching into the right and left main bronchi https://orcid.org/0000-0002-6490-7723 less than the expected number of the incomplete C- or U-shaped rings of hyaline cartilage that support the trachea and prevent it from collapsing reduced tracheal cartilage ring number reduced tracheal ring number MPheno.ontology MP:0004551 The rodent trachea contains C-shaped incomplete cartilaginous rings that vary in number between mice (15-18) and rats (20-25). A total of 15-20 incomplete U-shaped cartilaginous rings support the human trachea. decreased tracheal cartilage ring number MP:0004551 less than the expected number of the incomplete C- or U-shaped rings of hyaline cartilage that support the trachea and prevent it from collapsing https://orcid.org/0000-0002-6490-7723 The rodent trachea contains C-shaped incomplete cartilaginous rings that vary in number between mice (15-18) and rats (20-25). A total of 15-20 incomplete U-shaped cartilaginous rings support the human trachea. ISBN:978-0-12-802900-8 fusion of some or all of the incomplete C- or U-shaped rings of hyaline cartilage that support the trachea and prevent it from collapsing fused tracheal rings fusion of tracheal cartilage rings tracheal cartilage ring fusion MPheno.ontology MP:0004552 fused tracheal cartilage rings MP:0004552 fusion of some or all of the incomplete C- or U-shaped rings of hyaline cartilage that support the trachea and prevent it from collapsing https://orcid.org/0000-0002-6490-7723 absence of the incomplete C- or U-shaped rings of hyaline cartilage that support the trachea and prevent it from collapsing absent tracheal cartilage absent tracheal rings MPheno.ontology MP:0004553 absent tracheal cartilage rings MP:0004553 absence of the incomplete C- or U-shaped rings of hyaline cartilage that support the trachea and prevent it from collapsing https://orcid.org/0000-0002-6490-7723 reduced size of the passage between the mouth and the posterior nares and the larynx and esophagus MPheno.ontology MP:0004554 small pharynx MP:0004554 reduced size of the passage between the mouth and the posterior nares and the larynx and esophagus https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the pharynx, typically resulting in decreased size hypoplastic pharynx pharyngeal hypoplasia MPheno.ontology MP:0004555 pharynx hypoplasia MP:0004555 decrease in the number of normal cells in normal arrangement in the pharynx, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increased size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels increased allantois size MPheno.ontology MP:0004556 enlarged allantois MP:0004556 increased size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels https://orcid.org/0000-0002-6490-7723 an expansion in the volume of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels, as by stretching or distention allantois dilation distended allantois swollen allantois MPheno.ontology MP:0004557 dilated allantois MP:0004557 an expansion in the volume of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels, as by stretching or distention https://orcid.org/0000-0002-6490-7723 late onset of development of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels retarded allantois formation MPheno.ontology MP:0004558 delayed allantois development MP:0004558 late onset of development of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels https://orcid.org/0000-0002-6490-7723 reduced size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels decreased allantois size MPheno.ontology MP:0004559 small allantois MP:0004559 reduced size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels https://orcid.org/0000-0002-6490-7723 any structural anomaly of the portion of the chorion from which chorionic villi develop that establish a connection with the endometrium, giving rise to the fetal portion of the mature placenta MPheno.ontology MP:0004560 abnormal chorionic plate morphology MP:0004560 any structural anomaly of the portion of the chorion from which chorionic villi develop that establish a connection with the endometrium, giving rise to the fetal portion of the mature placenta https://orcid.org/0000-0003-3691-0324 https://orcid.org/0009-0005-7755-8314 absence of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue MPheno.ontology MP:0004561 absent facial nerve MP:0004561 absence of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue ISBN:0838580343 any structural anomaly in the presynaptic active zone of mature cochlear IHCs which usually contain a single synaptic ribbon, i.e. a submicrometer, electron-dense structure tethering synaptic vesicles; each spiral ganglion neuron receives input from only one IHC synapse abnormal IHC synaptic ribbon MPheno.ontology MP:0004562 abnormal inner hair cell synaptic ribbon morphology MP:0004562 any structural anomaly in the presynaptic active zone of mature cochlear IHCs which usually contain a single synaptic ribbon, i.e. a submicrometer, electron-dense structure tethering synaptic vesicles; each spiral ganglion neuron receives input from only one IHC synapse https://orcid.org/0000-0002-6490-7723 absence or loss of the usually single synaptic ribbon, a characteristic osmiophilic, electron-dense structure to which synaptic vesicles are tethered at the active zone of the cochlear inner hair cell afferent synapse absent IHC synaptic ribbon MPheno.ontology MP:0004563 absent active-zone-anchored inner hair cell synaptic ribbon MP:0004563 absence or loss of the usually single synaptic ribbon, a characteristic osmiophilic, electron-dense structure to which synaptic vesicles are tethered at the active zone of the cochlear inner hair cell afferent synapse https://orcid.org/0000-0002-6490-7723 increased size of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart enlarged adult cardiomyocyte enlarged myocardial fiber enlarged myocardial fibre increased adult cardiomyocyte size increased myocardial fibre size MPheno.ontology MP:0004564 increased myocardial fiber size MP:0004564 increased size of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart https://orcid.org/0009-0005-7755-8314 decreased size of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart decreased adult cardiomyocyte size decreased myocardial fibre size reduced myocardial fiber size reduced myocardial fibre size small adult cardiomyocyte small myocardial fiber small myocardial fibre MPheno.ontology MP:0004565 decreased myocardial fiber size MP:0004565 decreased size of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart https://orcid.org/0009-0005-7755-8314 deterioration or destruction of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart adult cardiomyocyte degeneration myocardial fibre degeneration MPheno.ontology MP:0004566 myocardial fiber degeneration MP:0004566 deterioration or destruction of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart https://orcid.org/0009-0005-7755-8314 decreased number of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart decreased adult cardiomyocyte number decreased myocardial fibre number reduced adult cardiomyocyte number reduced myocardial fiber number reduced myocardial fibre number MPheno.ontology MP:0004567 decreased myocardial fiber number MP:0004567 decreased number of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart https://orcid.org/0009-0005-7755-8314 union of the ninth and tenth cranial nerves into a single structure glossopharyngeal and vagus nerve fusion MPheno.ontology fused glossopharyngeal and vagus nerves MP:0004568 fusion of glossopharyngeal and vagus nerve MP:0004568 union of the ninth and tenth cranial nerves into a single structure https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the glossopharyngeal nerve, typically resulting in decreased size hypoplastic glossopharyngeal nerve MPheno.ontology MP:0004569 glossopharyngeal nerve hypoplasia MP:0004569 decrease in the number of normal cells in normal arrangement in the glossopharyngeal nerve, typically resulting in decreased size ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 absence of the sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue; the branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion MPheno.ontology MP:0004570 absent glossopharyngeal nerve MP:0004570 absence of the sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue; the branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 absence of the autonomic, sensory and motor axons of the tenth cranial nerve; it is primarily sensory but also has visceromotor components; it originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components, and also controls some motor functions such as speech; the sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis absent CN-X absent vagal nerve MPheno.ontology MP:0004571 absent vagus nerve MP:0004571 absence of the autonomic, sensory and motor axons of the tenth cranial nerve; it is primarily sensory but also has visceromotor components; it originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components, and also controls some motor functions such as speech; the sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 union of the basioccipital and basisphenoid bones into one structure, when this fusion does not normally occur (such as in a species where these bones normally persist as separate entities) basioccipital and basisphenoid bone fusion fused basioccipital and basisphenoid bones MPheno.ontology MP:0004572 fusion of basioccipital and basisphenoid bone MP:0004572 union of the basioccipital and basisphenoid bones into one structure, when this fusion does not normally occur (such as in a species where these bones normally persist as separate entities) https://orcid.org/0000-0003-3691-0324 missing the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs MPheno.ontology MP:0004573 absent limb buds MP:0004573 missing the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs MESH:A16.567 increased anterior-posterior width of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs wide limb buds MPheno.ontology MP:0004574 broad limb buds MP:0004574 increased anterior-posterior width of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs MESH:A16.567 reduced size of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs MPheno.ontology MP:0004575 small limb buds MP:0004575 reduced size of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs MESH:A16.567 any structural anomaly of transient developing limb structure that forms by expansion of the distal end of the limb paddle and will give rise to the pedal appendages (e.g. hand, foot, paw) abnormal limb plate morphology abnormal foot plate morphology abnormal footplate morphology abnormal hand plate morphology abnormal handplate morphology MPheno.ontology MP:0004576 abnormal embryonic autopod plate morphology MP:0004576 any structural anomaly of transient developing limb structure that forms by expansion of the distal end of the limb paddle and will give rise to the pedal appendages (e.g. hand, foot, paw) https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 any structural anomaly in the morphologically and biochemically distinct link types that extend between the stereocilia of cochlear hair bundles; link types can be distinguished by their relative sensitivities to treatment with calcium chelators and the protease subtilisin; in the mature mouse cochlea, tip links and horizontal top connectors are the only inter-stereocilial links associated with the hair bundle; ankle links and transient lateral links are both prominent features of developing auditory hair bundles MPheno.ontology MP:0004577 abnormal cochlear hair cell inter-stereocilial links morphology MP:0004577 any structural anomaly in the morphologically and biochemically distinct link types that extend between the stereocilia of cochlear hair bundles; link types can be distinguished by their relative sensitivities to treatment with calcium chelators and the protease subtilisin; in the mature mouse cochlea, tip links and horizontal top connectors are the only inter-stereocilial links associated with the hair bundle; ankle links and transient lateral links are both prominent features of developing auditory hair bundles https://orcid.org/0000-0002-6490-7723 any structural anomaly in single, three-stranded interrow filaments that extend obliquely from the tip of one stereocilium to the lateral side of an adjacent taller stereocilium; in the mouse, tip links are already detectable prenatally and persist throughout life; tips links are thought to gate the mechanotransducer channel, are lost from the cell surface after exposure to either calcium chelator BAPTA or lanthanum, and resist degradation by the protease subtilisin MPheno.ontology MP:0004578 abnormal cochlear hair bundle tip links morphology MP:0004578 any structural anomaly in single, three-stranded interrow filaments that extend obliquely from the tip of one stereocilium to the lateral side of an adjacent taller stereocilium; in the mouse, tip links are already detectable prenatally and persist throughout life; tips links are thought to gate the mechanotransducer channel, are lost from the cell surface after exposure to either calcium chelator BAPTA or lanthanum, and resist degradation by the protease subtilisin https://orcid.org/0000-0002-6490-7723 any structural anomaly in the inter-stereocilial links that connect the top of a shorter stereocilium to an adjacent longer stereocilium at a short distance below the tip links; the appearance of horizontal top connectors, which persist into adulthood, occurs concomitant with this loss of ankle links; top connectors are essentially unaffected by treatment with subtilisin and EGTA MPheno.ontology MP:0004579 abnormal cochlear hair bundle horizontal top connectors morphology MP:0004579 any structural anomaly in the inter-stereocilial links that connect the top of a shorter stereocilium to an adjacent longer stereocilium at a short distance below the tip links; the appearance of horizontal top connectors, which persist into adulthood, occurs concomitant with this loss of ankle links; top connectors are essentially unaffected by treatment with subtilisin and EGTA https://orcid.org/0000-0002-6490-7723 any structural anomaly in the fine lateral links that interconnect stereocilia at prenatal stages; transient lateral links diminish at early postnatal stages when ankle links appear at the base of stereocilia, and are essentially unaffected by treatment with subtilisin and EGTA MPheno.ontology MP:0004580 abnormal cochlear hair bundle transient lateral links morphology MP:0004580 any structural anomaly in the fine lateral links that interconnect stereocilia at prenatal stages; transient lateral links diminish at early postnatal stages when ankle links appear at the base of stereocilia, and are essentially unaffected by treatment with subtilisin and EGTA https://orcid.org/0000-0002-6490-7723 any structural anomaly in the long, single-stranded filaments that form a dense web or mesh around the base of cochlear hair bundles just above the region in which the stereocilia begin to taper down; in the mouse, ankle links are only a transient feature of the developing cochlear hair bundles, present predominantly from P2 though P9, but are absent by P12; ankle links are disrupted by treatment of hair cells with EGTA and subtilisin but not by La3+ and elastase MPheno.ontology MP:0004581 abnormal cochlear hair bundle ankle links morphology MP:0004581 any structural anomaly in the long, single-stranded filaments that form a dense web or mesh around the base of cochlear hair bundles just above the region in which the stereocilia begin to taper down; in the mouse, ankle links are only a transient feature of the developing cochlear hair bundles, present predominantly from P2 though P9, but are absent by P12; ankle links are disrupted by treatment of hair cells with EGTA and subtilisin but not by La3+ and elastase https://orcid.org/0000-0002-6490-7723 absence of the long, single-stranded filaments that form a dense web or mesh around the base of cochlear hair bundles just above the region in which the stereocilia begin to taper down MPheno.ontology MP:0004582 absent cochlear hair bundle ankle links MP:0004582 absence of the long, single-stranded filaments that form a dense web or mesh around the base of cochlear hair bundles just above the region in which the stereocilia begin to taper down https://orcid.org/0000-0002-6490-7723 any structural anomaly in the morphologically and biochemically distinct link types that extend between the stereocilia of vestibular hair bundles MPheno.ontology MP:0004583 abnormal vestibular hair bundle inter-stereocilial links MP:0004583 any structural anomaly in the morphologically and biochemically distinct link types that extend between the stereocilia of vestibular hair bundles https://orcid.org/0000-0002-6490-7723 any structural anomaly in the links that connect the shafts of neighboring stereocilia in vestibular hair bundles; each shaft connector is composed of a ruthenium red-reactive, electron-dense particle that is connected to the plasma membrane by several fine strands of variable length MPheno.ontology MP:0004584 abnormal vestibular hair bundle shaft connectors MP:0004584 any structural anomaly in the links that connect the shafts of neighboring stereocilia in vestibular hair bundles; each shaft connector is composed of a ruthenium red-reactive, electron-dense particle that is connected to the plasma membrane by several fine strands of variable length https://orcid.org/0000-0002-6490-7723 absence of the inter-stereocilial links that connect the shafts of neighboring stereocilia in vestibular hair bundles MPheno.ontology MP:0004585 absent vestibular hair bundle shaft connectors MP:0004585 absence of the inter-stereocilial links that connect the shafts of neighboring stereocilia in vestibular hair bundles https://orcid.org/0000-0002-6490-7723 degeneration or loss of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti MPheno.ontology MP:0004586 pillar cell degeneration MP:0004586 degeneration or loss of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti https://orcid.org/0000-0002-6490-7723 decreased incidence of cell death following exposure to X-ray irradiation decreased cellular susceptibility to X-ray irradiation increased cellular resistance to X-ray irradiation reduced cellular sensitivity to X-ray irradiation MPheno.ontology MP:0004587 decreased cellular sensitivity to X-ray irradiation MP:0004587 decreased incidence of cell death following exposure to X-ray irradiation https://orcid.org/0009-0005-7755-8314 atypical initial production, differentiation, migration or maturation of hair cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the inner ear MPheno.ontology MP:0004588 abnormal vestibular hair cell development MP:0004588 atypical initial production, differentiation, migration or maturation of hair cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the inner ear https://orcid.org/0000-0002-6490-7723 atypical initial production, differentiation, migration or maturation of the sensory epithelial cells of the cochlea abnormal cochlea auditory hair cell development MPheno.ontology MP:0004589 abnormal cochlear hair cell development MP:0004589 atypical initial production, differentiation, migration or maturation of the sensory epithelial cells of the cochlea https://orcid.org/0000-0002-6490-7723 absence of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities absent phalangeal cells MPheno.ontology MP:0004590 absent Deiters cells MP:0004590 absence of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities https://orcid.org/0000-0002-6490-7723 increased size of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells increased tectorial membrane size MPheno.ontology MP:0004591 enlarged tectorial membrane MP:0004591 increased size of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells https://orcid.org/0000-0002-6490-7723 reduced size of the lower bony framework of the mouth where the inferior teeth are held decreased mandible size reduced mandible size small lower jaw MPheno.ontology MP:0004592 small mandible MP:0004592 reduced size of the lower bony framework of the mouth where the inferior teeth are held ISBN:0-683-40008-8 increased length of the lower bony framework of the mouth where the inferior teeth are held increased mandible length MPheno.ontology MP:0004593 long mandible MP:0004593 increased length of the lower bony framework of the mouth where the inferior teeth are held ISBN:0-683-40008-8 any structural anomaly of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion); includes the attachment site to the temporal muscle abnormal coronoid process of the mandible morphology MPheno.ontology MP:0004594 abnormal mandible coronoid process morphology abnormal mandibular coronoid process morphology MP:0004594 any structural anomaly of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion); includes the attachment site to the temporal muscle https://orcid.org/0000-0003-3691-0324 any structural anomaly of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint abnormal condyloid process of the mandible morphology MPheno.ontology MP:0004595 abnormal mandibular condyloid process morphology MP:0004595 any structural anomaly of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint https://orcid.org/0000-0003-3691-0324 any structural anomaly of the portion of the mandible where the body of the mandible (horizontal portion) and the rami (perpendicular portions) meet; these normally unite nearly at right angles abnormal angular process of the mandible morphology abnormal gonial angle morphology abnormal mandible angular process morphology MPheno.ontology MP:0004596 abnormal mandibular angle morphology MP:0004596 any structural anomaly of the portion of the mandible where the body of the mandible (horizontal portion) and the rami (perpendicular portions) meet; these normally unite nearly at right angles https://orcid.org/0000-0003-3691-0324 greater than normal reduction in hearing sensitivity following exposure to acute noise that is injurious to the cochlea decreased resistance to noise-induced hearing loss MPheno.ontology MP:0004597 increased susceptibility to noise-induced hearing loss MP:0004597 greater than normal reduction in hearing sensitivity following exposure to acute noise that is injurious to the cochlea https://orcid.org/0000-0002-6490-7723 any structural anomaly in the continuous basement membrane found within the membranous labyrinth of the cochlea, known to extend from the limbus, down to the inner sulcus, across the basilar membrane, up to the external sulcus to the spiral prominence and radiating into the spiral ligament ensheathing the root cell processes MPheno.ontology MP:0004598 abnormal cochlear basement membrane morphology MP:0004598 any structural anomaly in the continuous basement membrane found within the membranous labyrinth of the cochlea, known to extend from the limbus, down to the inner sulcus, across the basilar membrane, up to the external sulcus to the spiral prominence and radiating into the spiral ligament ensheathing the root cell processes https://orcid.org/0000-0002-6490-7723 any structural anomaly of the dorsal bony and/or cartilaginous part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process) MP:0009730 abnormal dorsal arch morphology abnormal neural arch morphology MPheno.ontology MP:0004599 abnormal vertebral arch morphology MP:0004599 any structural anomaly of the dorsal bony and/or cartilaginous part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process) https://orcid.org/0000-0003-3691-0324 any structural anomaly of the bony protrusions on either side of the arch of a vertebrae at the point where the lamina joins the pedicle, between the superior and inferior articular processes; muscles and ligaments attach to these processes MPheno.ontology MP:0004600 abnormal vertebral transverse process morphology MP:0004600 any structural anomaly of the bony protrusions on either side of the arch of a vertebrae at the point where the lamina joins the pedicle, between the superior and inferior articular processes; muscles and ligaments attach to these processes https://orcid.org/0000-0003-3691-0324 any structural anomaly of the dorsal projection of the vertebral arch that projects backward and downward from the junction of the laminae, and serves for the attachment of muscles and ligaments abnormal dorsal spine abnormal vertebral spine MPheno.ontology MP:0004601 abnormal vertebral spinous process morphology MP:0004601 any structural anomaly of the dorsal projection of the vertebral arch that projects backward and downward from the junction of the laminae, and serves for the attachment of muscles and ligaments ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the bilateral flat projections that arise from the junctions of the pedicles and laminae MPheno.ontology MP:0004602 abnormal vertebral articular process morphology MP:0004602 any structural anomaly of the bilateral flat projections that arise from the junctions of the pedicles and laminae ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 loss of the dorsal part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process) absent dorsal arch absent neural arch MPheno.ontology MP:0004603 absent vertebral arch MP:0004603 loss of the dorsal part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process) https://orcid.org/0000-0003-3691-0324 any structural anomaly of the two short, thick processes, which project backward, one on either side, from the upper part of the body to the laminae MPheno.ontology MP:0004604 abnormal vertebral pedicle morphology MP:0004604 any structural anomaly of the two short, thick processes, which project backward, one on either side, from the upper part of the body to the laminae ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of two broad plates directed dorsomedially from the pedicles; these fuse at the dorsal midline, and complete the dorsal wall of the vertebral foramen MPheno.ontology MP:0004605 abnormal vertebral lamina morphology MP:0004605 any structural anomaly of two broad plates directed dorsomedially from the pedicles; these fuse at the dorsal midline, and complete the dorsal wall of the vertebral foramen ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 missing the dorsal projection of the vertebral arch that projects backward and downward from the junction of the laminae, and serves for the attachment of muscles and ligaments absent vertebral spine MPheno.ontology MP:0004606 absent vertebral spinous process MP:0004606 missing the dorsal projection of the vertebral arch that projects backward and downward from the junction of the laminae, and serves for the attachment of muscles and ligaments ISBN:0-683-40008-8 any structural anomaly of the first (topmost, C1) cervical vertebra which supports the globe of the head abnormal C1 vertebra morphology MPheno.ontology MP:0004607 abnormal cervical atlas morphology MP:0004607 any structural anomaly of the first (topmost, C1) cervical vertebra which supports the globe of the head ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the second cervical vertebra (C2) which forms the pivot upon which the first cervical (atlas, C1) vertebra rotates abnormal C2 vertebra morphology abnormal epistropheus morphology MPheno.ontology MP:0004608 abnormal cervical axis morphology MP:0004608 any structural anomaly of the second cervical vertebra (C2) which forms the pivot upon which the first cervical (atlas, C1) vertebra rotates ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 the union of one or more vertebrae into a single structure fused vertebrae vertebral ankylosis MPheno.ontology fusion of vertebrae MP:0004609 vertebral fusion MP:0004609 the union of one or more vertebrae into a single structure https://orcid.org/0000-0003-3691-0324 reduced size of the bony segments of the spinal column decreased vertebrae size reduced vertebrae size MPheno.ontology MP:0004610 small vertebrae MP:0004610 reduced size of the bony segments of the spinal column https://orcid.org/0000-0003-3691-0324 greater than normal reduction in hearing sensitivity following exposure to an ototoxic compound, such as aminoglycoside-induced hearing loss mediated via a glutamate excitotoxic process decreased resistance to ototoxicity-induced hearing loss MPheno.ontology MP:0004611 increased susceptibility to ototoxicity-induced hearing loss MP:0004611 greater than normal reduction in hearing sensitivity following exposure to an ototoxic compound, such as aminoglycoside-induced hearing loss mediated via a glutamate excitotoxic process https://orcid.org/0000-0002-6490-7723 improper union of the main cylindrical portion of adjacent vertebra ventral to the vertebral canal vertebral body fusion MPheno.ontology fused vertebral bodies MP:0004612 fusion of vertebral bodies MP:0004612 improper union of the main cylindrical portion of adjacent vertebra ventral to the vertebral canal https://orcid.org/0000-0003-3691-0324 improper union of the dorsal part of adjacent vertebra fused vertebral arches fusion of dorsal arches fusion of neural arches vertebral arch fusion MPheno.ontology MP:0004613 fusion of vertebral arches MP:0004613 improper union of the dorsal part of adjacent vertebra https://orcid.org/0000-0003-3691-0324 homeotic transformation of any caudal vertebrae to adopt the fate of another vertebrae caudal transitional vertebrae MPheno.ontology MP:0004614 There are usually 27-30 caudal vertebrae present in rodents and only 3-5 fused caudal vertebrae in human. caudal vertebral transformation MP:0004614 homeotic transformation of any caudal vertebrae to adopt the fate of another vertebrae https://orcid.org/0000-0003-3691-0324 homeotic transformation of any cervical vertebrae to adopt the fate of another vertebrae cervical transitional vertebrae MPheno.ontology MP:0004615 cervical vertebral transformation MP:0004615 homeotic transformation of any cervical vertebrae to adopt the fate of another vertebrae https://orcid.org/0000-0003-3691-0324 homeotic transformation of any lumbar vertebrae to adopt the fate of another vertebrae lumbar transitional vertebrae MPheno.ontology MP:0004616 lumbar vertebral transformation MP:0004616 homeotic transformation of any lumbar vertebrae to adopt the fate of another vertebrae https://orcid.org/0000-0003-3691-0324 homeotic transformation of any sacral vertebrae to adopt the fate of another vertebrae sacral transitional vertebrae MPheno.ontology MP:0004617 sacral vertebral transformation MP:0004617 homeotic transformation of any sacral vertebrae to adopt the fate of another vertebrae https://orcid.org/0000-0003-3691-0324 homeotic transformation of any thoracic vertebrae to adopt the fate of another vertebrae MPheno.ontology thoracic transitional vertebrae MP:0004618 thoracic vertebral transformation MP:0004618 homeotic transformation of any thoracic vertebrae to adopt the fate of another vertebrae https://orcid.org/0000-0003-3691-0324 the union of one or more caudal vertebrae into a single structure in species where this does not normally occur caudal vertebral ankylosis fused caudal vertebrae MPheno.ontology MP:0004619 There are usually 27-30 caudal vertebrae present in rodents and only 3-5 fused caudal vertebrae in human. caudal vertebral fusion MP:0004619 the union of one or more caudal vertebrae into a single structure in species where this does not normally occur https://orcid.org/0000-0003-3691-0324 the union of one or more cervical vertebrae into a single structure cervical vertebral ankylosis fused cervical vertebrae MPheno.ontology MP:0004620 cervical vertebral fusion MP:0004620 the union of one or more cervical vertebrae into a single structure https://orcid.org/0000-0003-3691-0324 the union of one or more lumbar vertebrae into a single structure fusion of lumbar vertebrae lumbar vertebral ankylosis MPheno.ontology MP:0004621 lumbar vertebral fusion MP:0004621 the union of one or more lumbar vertebrae into a single structure https://orcid.org/0000-0003-3691-0324 the union of one or more sacral vertebrae into a single structure in species where this does not normally occur fused sacral vertebrae fusion of sacral vertebrae MPheno.ontology MP:0004622 In humans, vertebrae S1-S5 are normally fused in maturity, with no intervertebral discs. In rodents, these vertebrae remain distinct in adulthood. sacral vertebral fusion MP:0004622 the union of one or more sacral vertebrae into a single structure in species where this does not normally occur https://orcid.org/0000-0003-3691-0324 the union of one or more thoracic vertebrae into a single structure fusied thoracic vertebrae fusion of thoracic vertebrae thoracic vertebral ankylosis MPheno.ontology MP:0004623 thoracic vertebral fusion MP:0004623 the union of one or more thoracic vertebrae into a single structure https://orcid.org/0000-0003-3691-0324 any structural anomaly of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum abnormal rib cage morphology abnormal ribcage morphology abnormal thoracic basket morphology MPheno.ontology MP:0004624 abnormal thoracic cage morphology MP:0004624 any structural anomaly of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum https://orcid.org/0000-0003-3691-0324 any anomaly in the normal joining of the ribs to the vertebral column or to the sternum abnormal rib articulation abnormal rib attachment MPheno.ontology MP:0004625 abnormal rib joint morphology MP:0004625 any anomaly in the normal joining of the ribs to the vertebral column or to the sternum https://orcid.org/0000-0003-3691-0324 appearance of vertebrae that are flattened laterally along the whole length such that they appear pressed together and take up less rostrocaudal space MPheno.ontology MP:0004626 vertebral compression MP:0004626 appearance of vertebrae that are flattened laterally along the whole length such that they appear pressed together and take up less rostrocaudal space https://orcid.org/0000-0003-3691-0324 any structural anomaly of the bony prominences near the upper extremity of the femur; there are two in human (greater and lesser trochanters) and three in many other mammalian species (greater, lesser and third); these normally serve as attachment points for hip and thigh muscles MPheno.ontology MP:0004627 abnormal trochanter morphology MP:0004627 any structural anomaly of the bony prominences near the upper extremity of the femur; there are two in human (greater and lesser trochanters) and three in many other mammalian species (greater, lesser and third); these normally serve as attachment points for hip and thigh muscles ISBN:0-683-40008-8 degeneration or loss of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities phalangeal cell degeneration MPheno.ontology MP:0004628 Deiters cell degeneration MP:0004628 degeneration or loss of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities https://orcid.org/0000-0002-6490-7723 any structural anomaly of the artery which parallels the spiral ganglion in the root of the spiral lamina of the modiolus, serving the ganglion and the cochlear duct and its contents MPheno.ontology MP:0004629 abnormal spiral modiolar artery morphology MP:0004629 any structural anomaly of the artery which parallels the spiral ganglion in the root of the spiral lamina of the modiolus, serving the ganglion and the cochlear duct and its contents https://orcid.org/0000-0002-6490-7723 abnormal narrowing or constriction of the artery which parallels the spiral ganglion in the root of the spiral lamina of the modiolus and serves the ganglion and the cochlear duct and its contents MPheno.ontology MP:0004630 spiral modiolar artery stenosis MP:0004630 abnormal narrowing or constriction of the artery which parallels the spiral ganglion in the root of the spiral lamina of the modiolus and serves the ganglion and the cochlear duct and its contents https://orcid.org/0000-0002-6490-7723 any structural anomaly in the region of the cerebral cortex that receives the auditory radiation from the medial geniculate body, a thalamic cell group receiving auditory input from the cochlear nuclei in the rhombencephalon and is responsible for processing of auditory (sound) information MPheno.ontology MP:0004631 abnormal auditory cortex morphology MP:0004631 any structural anomaly in the region of the cerebral cortex that receives the auditory radiation from the medial geniculate body, a thalamic cell group receiving auditory input from the cochlear nuclei in the rhombencephalon and is responsible for processing of auditory (sound) information https://orcid.org/0000-0002-6490-7723 any changes in the morphology or number of efferent terminals, occurring as clusters, in the cochlear OHC region; normally, medial olivocochlear neurons, which are primarily found in rostral and ventral periolivary regions, project mainly to the contralateral cochlea, and terminate directly on OHCs MPheno.ontology MP:0004632 abnormal cochlear OHC efferent innervation pattern MP:0004632 any changes in the morphology or number of efferent terminals, occurring as clusters, in the cochlear OHC region; normally, medial olivocochlear neurons, which are primarily found in rostral and ventral periolivary regions, project mainly to the contralateral cochlea, and terminate directly on OHCs https://orcid.org/0000-0002-6490-7723 any changes in the morphology of the normally dense plexus of efferent terminals that contact radial fibers of the spiral ganglion below cochlear IHCs or of the sparser plexus of terminals positioned around IHC somata; normally, lateral olivocochlear neurons, which are found in and/or around the lateral superior olive, project mainly to the ipsilateral cochlea and terminate mostly on dendritic fibers below IHCs MPheno.ontology MP:0004633 abnormal cochlear IHC efferent innervation pattern MP:0004633 any changes in the morphology of the normally dense plexus of efferent terminals that contact radial fibers of the spiral ganglion below cochlear IHCs or of the sparser plexus of terminals positioned around IHC somata; normally, lateral olivocochlear neurons, which are found in and/or around the lateral superior olive, project mainly to the ipsilateral cochlea and terminate mostly on dendritic fibers below IHCs https://orcid.org/0000-0002-6490-7723 reduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges reduced length of metacarpal bones MPheno.ontology MP:0004634 short metacarpal bones MP:0004634 reduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges ISBN:0-683-40008-8 reduced length of the five bones of the hindpaws that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges reduced length of metatarsal bones MPheno.ontology MP:0004635 short metatarsal bones MP:0004635 reduced length of the five bones of the hindpaws that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges ISBN:0-683-40008-8 reduced number of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges decreased number of metacarpal bones MPheno.ontology reduced metacarpal bone number MP:0004636 decreased metacarpal bone number MP:0004636 reduced number of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the metacarpal bones, typically resulting in decreased size hypoplastic metacarpal bones MPheno.ontology MP:0004637 metacarpal bone hypoplasia MP:0004637 decrease in the number of normal cells in normal arrangement in the metacarpal bones, typically resulting in decreased size ISBN:0-683-40008-8 increased length of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges MPheno.ontology MP:0004638 elongated metacarpal bones MP:0004638 increased length of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges ISBN:0-683-40008-8 improper union of one or more of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges fusion of metacarpal bones metacarpal bone fusion MPheno.ontology MP:0004639 fused metacarpal bones MP:0004639 improper union of one or more of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges ISBN:0-683-40008-8 reduced number of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges decreased number of metatarsal bones reduced metatarsal bone number MPheno.ontology MP:0004640 decreased metatarsal bone number MP:0004640 reduced number of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges ISBN:0-683-40008-8 increased length of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges MPheno.ontology MP:0004641 elongated metatarsal bones MP:0004641 increased length of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges ISBN:0-683-40008-8 improper union of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges fusion of metatarsal bones metatarsal bone fusion MPheno.ontology MP:0004642 fused metatarsal bones MP:0004642 improper union of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges ISBN:0-683-40008-8 altered number of the bony segments of the spinal column abnormal number of vertebrae MPheno.ontology MP:0004643 abnormal vertebrae number MP:0004643 altered number of the bony segments of the spinal column ISBN:0-683-40008-8 an increase over the normal number of the bony segments of the spinal column supernumerary vertebrae MPheno.ontology increased number of vertebrae MP:0004644 increased vertebrae number MP:0004644 an increase over the normal number of the bony segments of the spinal column ISBN:0-683-40008-8 a reduction from the normal number of the bony segments of the spinal column decreased number of vertebrae reduced number of vertebrae reduced vertebrae number MPheno.ontology MP:0004645 decreased vertebrae number MP:0004645 a reduction from the normal number of the bony segments of the spinal column ISBN:0-683-40008-8 reduced number of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull decreased number of cervical vertebrae reduced cervical vertebrae number reduced number of cervical vertebrae MPheno.ontology MP:0004646 decreased cervical vertebrae number MP:0004646 reduced number of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull ISBN:0-683-40008-8 reduced number of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae decreased number of lumbar vertebrae reduced lumbar vertebrae number MPheno.ontology MP:0004647 decreased lumbar vertebrae number MP:0004647 reduced number of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae MESH:A02.835.232.834.519 reduced number of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae reduced thoracic vertebrae number MPheno.ontology decreased number of thoracic vertebrae MP:0004648 decreased thoracic vertebrae number MP:0004648 reduced number of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae MESH:A02.835.232.834.892 reduced number of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae reduced sacral vertebrae number MPheno.ontology decreased number of sacral vertebrae MP:0004649 decreased sacral vertebrae number MP:0004649 reduced number of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae https://orcid.org/0000-0003-3691-0324 increased number of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae increased number of lumbar vertebrae MPheno.ontology MP:0004650 increased lumbar vertebrae number MP:0004650 increased number of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae MESH:A02.835.232.834.519 increased number of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae increased number of thoracic vertebrae MPheno.ontology MP:0004651 increased thoracic vertebrae number MP:0004651 increased number of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae MESH:A02.835.232.834.892 reduced size of the bony segments of the coccyx or tail MPheno.ontology MP:0004652 There are usually 27-30 caudal vertebrae present in rodents and only 3-5 fused caudal vertebrae in human. small caudal vertebrae MP:0004652 reduced size of the bony segments of the coccyx or tail https://orcid.org/0000-0003-3691-0324 absence of all of the bony segments of the coccyx or tail MPheno.ontology MP:0004653 There are usually 27-30 caudal vertebrae present in rodents and only 3-5 fused caudal vertebrae in human. absent caudal vertebrae MP:0004653 absence of all of the bony segments of the coccyx or tail https://orcid.org/0000-0003-3691-0324 absence of all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae MPheno.ontology MP:0004654 absent lumbar vertebrae MP:0004654 absence of all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae MESH:A02.835.232.834.519 absence of all of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae MPheno.ontology MP:0004655 absent thoracic vertebrae MP:0004655 absence of all of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae MESH:A02.835.232.834.892 absence of all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae MPheno.ontology MP:0004656 absent sacral vertebrae MP:0004656 absence of all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae https://orcid.org/0000-0003-3691-0324 reduced size of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae decreased sacral vertebra size reduced sacral vertebra size MPheno.ontology MP:0004657 small sacral vertebrae MP:0004657 reduced size of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae https://orcid.org/0000-0003-3691-0324 any structural anomaly of the conical ventral projection on the arch of the atlas MPheno.ontology MP:0004658 abnormal ventral tubercle of atlas morphology MP:0004658 any structural anomaly of the conical ventral projection on the arch of the atlas https://orcid.org/0000-0003-3691-0324 any structural anomaly of the large protuberance that projects upward from the cervical axis, around which the cervical atlas rotates abnormal dens morphology abnormal odontoid peg morphology MPheno.ontology MP:0004659 abnormal odontoid process morphology MP:0004659 any structural anomaly of the large protuberance that projects upward from the cervical axis, around which the cervical atlas rotates ISBN:0-683-40008-8 MESH:A02.835.232.834.151.383.668 absence of the thyroxine-producing follicular cells derived from the thyroid diverticulum which evaginates from the endodermal epithelium of the embryonic pharyngeal floor MPheno.ontology MP:0004660 absent thyroid follicular cells MP:0004660 absence of the thyroxine-producing follicular cells derived from the thyroid diverticulum which evaginates from the endodermal epithelium of the embryonic pharyngeal floor https://orcid.org/0000-0002-6490-7723 absence of the neuroepithelial secretory cells that occur singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid; these cells secrete calcitonin, 5-hydroxytryptamine and dopamine absent C cells absent C cells of thyroid gland absent clear cells of thyroid gland absent parafollicular cells of thyroid gland absent thyroid clear cells absent thyroid parafollicular C-cells MPheno.ontology MP:0004661 absent thyroid parafollicular cells MP:0004661 absence of the neuroepithelial secretory cells that occur singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid; these cells secrete calcitonin, 5-hydroxytryptamine and dopamine CL:0000570 https://orcid.org/0000-0002-6490-7723 any structural anomaly in the endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor MPheno.ontology MP:0004662 abnormal thyroid diverticulum morphology MP:0004662 any structural anomaly in the endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor https://orcid.org/0000-0002-6490-7723 congenital absence of the thyroid gland or suppression or absence of its hormonal secretion MPheno.ontology MP:0004663 athyroidism MP:0004663 congenital absence of the thyroid gland or suppression or absence of its hormonal secretion https://orcid.org/0000-0002-6490-7723 slowed progression to structurally mature components of the labyrinth, including the semicircular canals, vestibule and cochlea MPheno.ontology MP:0004664 delayed inner ear development MP:0004664 slowed progression to structurally mature components of the labyrinth, including the semicircular canals, vestibule and cochlea https://orcid.org/0000-0002-6490-7723 any structural anomaly in the small artery that passes through the ring of the stapes; while the stapedial artery is a temporary artery thought to disappear at late embryonic stage in humans, the mouse stapedial artery is complete by E13 and persists into adulthood MPheno.ontology MP:0004665 abnormal stapedial artery morphology MP:0004665 any structural anomaly in the small artery that passes through the ring of the stapes; while the stapedial artery is a temporary artery thought to disappear at late embryonic stage in humans, the mouse stapedial artery is complete by E13 and persists into adulthood https://orcid.org/0000-0002-6490-7723 absence of the small artery that passes through the ring of the stapes MPheno.ontology MP:0004666 absent stapedial artery MP:0004666 absence of the small artery that passes through the ring of the stapes https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the vertebral body, typically resulting in decreased size hypoplastic vertebral body MPheno.ontology MP:0004667 vertebral body hypoplasia MP:0004667 decrease in the number of normal cells in normal arrangement in the vertebral body, typically resulting in decreased size ISBN:0-683-40008-8 absence of the main cylindrical portion of the vertebra ventral to the vertebral canal MPheno.ontology MP:0004668 absent vertebral body MP:0004668 absence of the main cylindrical portion of the vertebra ventral to the vertebral canal ISBN:0-683-40008-8 increased size of the main cylindrical portion of the vertebra ventral to the vertebral canal increased vertebral body size MPheno.ontology MP:0004669 enlarged vertebral body MP:0004669 increased size of the main cylindrical portion of the vertebra ventral to the vertebral canal ISBN:0-683-40008-8 decreased size of the main cylindrical portion of the vertebra ventral to the vertebral canal decreased vertebral body size reduced vertebral body size MPheno.ontology MP:0004670 small vertebral body MP:0004670 decreased size of the main cylindrical portion of the vertebra ventral to the vertebral canal ISBN:0-683-40008-8 increased length of the bones forming the bony wall of the chest increased rib length MPheno.ontology MP:0004671 long ribs MP:0004671 increased length of the bones forming the bony wall of the chest ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 reduced length of the bones forming the bony wall of the chest decreased rib length MPheno.ontology MP:0004672 short ribs MP:0004672 reduced length of the bones forming the bony wall of the chest ISBN:0-683-40008-8 any deviation from the normal curvature of the ribs such that the ribs are turned outward MPheno.ontology MP:0004673 splayed ribs MP:0004673 any deviation from the normal curvature of the ribs such that the ribs are turned outward https://orcid.org/0000-0003-3691-0324 a more slender appearance of the bones forming the bony wall of the chest gracile ribs MPheno.ontology MP:0004674 thin ribs MP:0004674 a more slender appearance of the bones forming the bony wall of the chest ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 a crack or break in the bones forming the bony wall of the chest MPheno.ontology MP:0004675 rib fractures MP:0004675 a crack or break in the bones forming the bony wall of the chest ISBN:0-683-40008-8 an increase in the width of the bones forming the bony wall of the chest broad ribs MPheno.ontology MP:0004676 wide ribs MP:0004676 an increase in the width of the bones forming the bony wall of the chest ISBN:0-683-40008-8 ribs that terminate abruptly as if having an end or point cut off MPheno.ontology MP:0004677 truncated ribs MP:0004677 ribs that terminate abruptly as if having an end or point cut off https://orcid.org/0000-0003-3691-0324 the appearance of an abnormal division of the caudal tip of the sternum bifid xiphoid process MPheno.ontology MP:0004678 split xiphoid process MP:0004678 the appearance of an abnormal division of the caudal tip of the sternum https://orcid.org/0000-0003-3691-0324 the appearance of a hole or holes in the caudal tip of the sternum MPheno.ontology MP:0004679 xiphoid process foramen MP:0004679 the appearance of a hole or holes in the caudal tip of the sternum ISBN:0-683-40008-8 reduced size of the caudal tip of the sternum MPheno.ontology MP:0004680 small xiphoid process MP:0004680 reduced size of the caudal tip of the sternum ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the intervertebral disk, typically resulting in decreased size hypoplastic intervertebral disk intervertebral disc hypoplasia MPheno.ontology MP:0004681 intervertebral disk hypoplasia MP:0004681 decrease in the number of normal cells in normal arrangement in the intervertebral disk, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 intervertebral disc hypoplasia https://orcid.org/0000-0002-6490-7723 reduced size of the cartilaginous and gelatinous structure found between vertebrae small intervertebral disc MPheno.ontology MP:0004682 small intervertebral disk MP:0004682 reduced size of the cartilaginous and gelatinous structure found between vertebrae https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 absence of the cartilaginous and gelatinous structure found between vertebrae absent intervertebral disc MPheno.ontology MP:0004683 absent intervertebral disk MP:0004683 absence of the cartilaginous and gelatinous structure found between vertebrae https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 absent intervertebral disc https://orcid.org/0000-0002-6490-7723 retrogressive pathological change of the cartilaginous and gelatinous structure found between vertebrae intervertebral disc degeneration spondylosis MPheno.ontology MP:0004684 intervertebral disk degeneration MP:0004684 retrogressive pathological change of the cartilaginous and gelatinous structure found between vertebrae https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 intervertebral disc degeneration https://orcid.org/0000-0002-6490-7723 pathologic deposition of calcium salts in one or more intervertebral disks intervertebral calcification calcified intervertebral disc calcified intervertebral discs calcified intervertebral disks MPheno.ontology MP:0004685 calcified intervertebral disk MP:0004685 pathologic deposition of calcium salts in one or more intervertebral disks https://orcid.org/0000-0002-6490-7723 calcified intervertebral disc https://orcid.org/0000-0002-6490-7723 reduced end-to-end length of the several elongated bones of the extremities reduced length of long bones short long bones MPheno.ontology MP:0004686 decreased length of long bones MP:0004686 reduced end-to-end length of the several elongated bones of the extremities https://orcid.org/0000-0003-3691-0324 any vertebrae or vertebral section that is cleft into two parts bifid vertebrae cleft vertebrae splayed vertebrae MPheno.ontology MP:0004687 split vertebrae MP:0004687 any vertebrae or vertebral section that is cleft into two parts https://orcid.org/0000-0003-3691-0324 absence of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis MPheno.ontology MP:0004688 absent ilium MP:0004688 absence of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis ISBN:0-683-40008-8 reduced size of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis MPheno.ontology small ischium bone MP:0004689 small ischium MP:0004689 reduced size of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis https://orcid.org/0009-0005-7755-8314 decrease in the number of normal cells in normal arrangement in the ischium, typically resulting in decreased size hypoplastic ischium ischium bone hypoplasia MPheno.ontology MP:0004690 ischium hypoplasia MP:0004690 decrease in the number of normal cells in normal arrangement in the ischium, typically resulting in decreased size https://orcid.org/0009-0005-7755-8314 absence of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis absent pubic bone MPheno.ontology MP:0004691 absent pubis MP:0004691 absence of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis https://orcid.org/0009-0005-7755-8314 reduced size of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis MPheno.ontology small pubic bone MP:0004692 small pubis MP:0004692 reduced size of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis https://orcid.org/0009-0005-7755-8314 decrease in the number of normal cells in normal arrangement in the pubis, typically resulting in decreased size hypoplastic pubis pubic bone hypoplasia MPheno.ontology MP:0004693 pubis hypoplasia MP:0004693 decrease in the number of normal cells in normal arrangement in the pubis, typically resulting in decreased size https://orcid.org/0009-0005-7755-8314 absence of the large sesamoid bone that covers the anterior surface of the knee MPheno.ontology MP:0004694 absent patella MP:0004694 absence of the large sesamoid bone that covers the anterior surface of the knee ISBN:0-683-40008-8 greater end-to-end length of the several elongated bones of the extremities long long bones MPheno.ontology MP:0004695 increased length of long bones MP:0004695 greater end-to-end length of the several elongated bones of the extremities https://orcid.org/0000-0003-3691-0324 any structural anomaly of the small spherical vesicular components of the thyroid gland that are lined with epithelium and contain a colloid substance that both serves as a reservoir of materials for thyroid hormone production and stores thyroid hormones MPheno.ontology MP:0004696 abnormal thyroid follicle morphology MP:0004696 any structural anomaly of the small spherical vesicular components of the thyroid gland that are lined with epithelium and contain a colloid substance that both serves as a reservoir of materials for thyroid hormone production and stores thyroid hormones ISBN:0-683-40008-8 any structural anomaly of the thyroxine-producing follicular cells derived from the thyroid diverticulum which evaginates from the endodermal epithelium of the embryonic pharyngeal floor abnormal thyrocyte morphology abnormal thyroid principal cell morphology MPheno.ontology MP:0004697 abnormal thyroid follicular cell morphology MP:0004697 any structural anomaly of the thyroxine-producing follicular cells derived from the thyroid diverticulum which evaginates from the endodermal epithelium of the embryonic pharyngeal floor https://orcid.org/0000-0002-6490-7723 any structural anomaly of the neuroepithelial secretory cells that occur singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid; these cells secrete calcitonin, 5-hydroxytryptamine and dopamine abnormal thyroid parafollicular C-cells abnormal C cell morphology abnormal C cell of thyroid gland morphology abnormal clear cell of thyroid gland morphology abnormal parafollicular cell of thyroid gland morphology abnormal thyroid clear cell morphology abnormal thyroid parafollicular C-cell morphology MPheno.ontology MP:0004698 abnormal thyroid parafollicular cell morphology MP:0004698 any structural anomaly of the neuroepithelial secretory cells that occur singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid; these cells secrete calcitonin, 5-hydroxytryptamine and dopamine CL:0000570 https://orcid.org/0000-0002-6490-7723 bilateral asymmetry in auditory function whereby one of the two ears displays auditory thresholds indicative of intact hearing while the other ear displays thresholds reflecting auditory dysfunction MPheno.ontology MP:0004699 unilateral deafness MP:0004699 bilateral asymmetry in auditory function whereby one of the two ears displays auditory thresholds indicative of intact hearing while the other ear displays thresholds reflecting auditory dysfunction https://orcid.org/0000-0002-6490-7723 anomalous blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities abnormal circulating IGF-I level abnormal circulating IGF1 level MPheno.ontology MP:0004700 abnormal circulating insulin-like growth factor I level MP:0004700 anomalous blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities MESH:D12.644.276.937.400 https://orcid.org/0000-0003-3691-0324 reduced blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities reduced circulating insulin-like growth factor I level MPheno.ontology MP:0004701 decreased circulating insulin-like growth factor I level MP:0004701 reduced blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities https://orcid.org/0000-0003-3691-0324 increased blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities MPheno.ontology MP:0004702 increased circulating insulin-like growth factor I level MP:0004702 increased blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities https://orcid.org/0000-0003-3691-0324 any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord abnormal backbone morphology abnormal spinal column morphology abnormal spine morphology MPheno.ontology MP:0004703 abnormal vertebral column morphology MP:0004703 any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord https://orcid.org/0000-0003-3691-0324 decreased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord decreased vertebral column length short spinal axis short spinal column short spine MPheno.ontology MP:0004704 short vertebral column MP:0004704 decreased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord https://orcid.org/0000-0003-3691-0324 increased length of the main cylindrical portion of the vertebra ventral to the vertebral canal increased vertebral body length MPheno.ontology MP:0004705 elongated vertebral body MP:0004705 increased length of the main cylindrical portion of the vertebra ventral to the vertebral canal ISBN:0-683-40008-8 reduced length of the main cylindrical portion of the vertebra ventral to the vertebral canal decreased vertebral body length reduced vertebral body length MPheno.ontology MP:0004706 short vertebral body MP:0004706 reduced length of the main cylindrical portion of the vertebra ventral to the vertebral canal ISBN:0-683-40008-8 increased size of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae increased lumbar vertebra size MPheno.ontology MP:0004707 enlarged lumbar vertebrae MP:0004707 increased size of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae https://orcid.org/0000-0003-3691-0324 reduced length of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae decreased lumbar vertebra length reduced lumbar vertebra length MPheno.ontology MP:0004708 short lumbar vertebrae MP:0004708 reduced length of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae https://orcid.org/0000-0003-3691-0324 retrogressive pathologic change of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull MPheno.ontology MP:0004709 cervical vertebrae degeneration MP:0004709 retrogressive pathologic change of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull MESH:A02.835.232.834.151 https://orcid.org/0000-0003-3691-0324 reduced size of the axial fibrocellular cord in embryos around which develops the vertebral primordia MPheno.ontology MP:0004710 small notochord MP:0004710 reduced size of the axial fibrocellular cord in embryos around which develops the vertebral primordia ISBN:0-683-40008-8 failure of notochord tissue to differentiate into the vertebral primordia during development resulting in the presence of notochord tissue at later stages than it is normally seen lack of notochord regression MPheno.ontology MP:0004711 persistence of notochord tissue MP:0004711 failure of notochord tissue to differentiate into the vertebral primordia during development resulting in the presence of notochord tissue at later stages than it is normally seen https://orcid.org/0000-0003-3691-0324 retrogressive pathologic change of the axial fibrocellular cord in embryos around which develops the vertebral primordia (prior to normal differentiation of this tissue into the vertebral column tissues) MPheno.ontology MP:0004712 notochord degeneration MP:0004712 retrogressive pathologic change of the axial fibrocellular cord in embryos around which develops the vertebral primordia (prior to normal differentiation of this tissue into the vertebral column tissues) ISBN:0-683-40008-8 the appearance of an abnormal division in the axial fibrocellular cord in embryos around which develops the vertebral primordia bifid notochord bifurcated notochord MPheno.ontology MP:0004713 split notochord MP:0004713 the appearance of an abnormal division in the axial fibrocellular cord in embryos around which develops the vertebral primordia ISBN:0-683-40008-8 notochord morphology that terminates abruptly as if having an end or point cut off MPheno.ontology MP:0004714 truncated notochord MP:0004714 notochord morphology that terminates abruptly as if having an end or point cut off ISBN:0-683-40008-8 absence of the composite sensory nerve innervating the receptor cells of the membranous labyrinth absent eighth cranial nerve [CN VIII] absent eighth nerve absent nervus acusticus [CN VIII] absent nervus octavus [CN VIII] absent nervus statoacusticus [CN VIII] absent nervus vestibulocochlearis [CN VIII] absent octavus absent statoacoustic nerve MPheno.ontology MP:0004715 absent vestibulocochlear nerve MP:0004715 absence of the composite sensory nerve innervating the receptor cells of the membranous labyrinth https://orcid.org/0000-0002-6490-7723 any structural anomaly in the part of the vestibulocochlear nerve [CN VIII] peripheral to the cochlear root; composed of the central nerve processes of the bipolar neurons of the spiral ganglion, which have their peripheral processes on the four rows of neuroepithelial cells (hair cells) of the spiral organ abnormal auditory nerve morphology abnormal cochlear part of vestibulocochlear nerve morphology abnormal inferior part of vestibulocochlear nerve morphology abnormal nervus cochlearis morphology abnormal pars cochlearis nervi vestibulocochlearis morphology MPheno.ontology MP:0004716 abnormal cochlear nerve morphology MP:0004716 any structural anomaly in the part of the vestibulocochlear nerve [CN VIII] peripheral to the cochlear root; composed of the central nerve processes of the bipolar neurons of the spiral ganglion, which have their peripheral processes on the four rows of neuroepithelial cells (hair cells) of the spiral organ https://orcid.org/0000-0002-6490-7723 absence of the part of the vestibulocochlear nerve [CN VIII] that is peripheral to the cochlear root absent auditory nerve absent cochlear part of vestibulocochlear nerve absent inferior part of vestibulocochlear nerve absent nervus cochlearis absent pars cochlearis nervi vestibulocochlearis MPheno.ontology MP:0004717 absent cochlear nerve MP:0004717 absence of the part of the vestibulocochlear nerve [CN VIII] that is peripheral to the cochlear root https://orcid.org/0000-0002-6490-7723 any structural anomaly in the part of the vestibulocochlear nerve [CN VIII] peripheral to the vestibular root; it is composed of the central processes of bipolar neurons that have the terminals of their peripheral processes on the hair cells in the ampullae of the semicircular ducts and the maculae of the saccule and utricle, and cell bodies of the vestibular ganglion abnormal nervus vestibularis morphology abnormal pars vestibularis nervi vestibulocochlearis morphology abnormal superior part of vestibulocochlear nerve morphology abnormal vestibular part of vestibulocochlear nerve morphology abnormal vestibular root of cranial nerve VIII morphology MPheno.ontology MP:0004718 abnormal vestibular nerve morphology MP:0004718 any structural anomaly in the part of the vestibulocochlear nerve [CN VIII] peripheral to the vestibular root; it is composed of the central processes of bipolar neurons that have the terminals of their peripheral processes on the hair cells in the ampullae of the semicircular ducts and the maculae of the saccule and utricle, and cell bodies of the vestibular ganglion https://orcid.org/0000-0002-6490-7723 absence of the part of the vestibulocochlear nerve [CN VIII] that is peripheral to the vestibular root absent nervus vestibularis absent pars vestibularis nervi vestibulocochlearis absent superior part of vestibulocochlear nerve absent vestibular part of vestibulocochlear nerve absent vestibular root of cranial nerve VIII MPheno.ontology MP:0004719 absent vestibular nerve MP:0004719 absence of the part of the vestibulocochlear nerve [CN VIII] that is peripheral to the vestibular root https://orcid.org/0000-0002-6490-7723 any structural anomaly of blood plasma cells derived from megakaryocytes, which function to promote blood clotting abnormal platelets morphology abnormal thrombocyte morphology platelet dysplasia MPheno.ontology abnormal blood platelet morphology MP:0004720 abnormal platelet morphology MP:0004720 any structural anomaly of blood plasma cells derived from megakaryocytes, which function to promote blood clotting MESH:A11.118.188 abnormal thrombocyte morphology MESH:A11.118.188 platelet dysplasia https://orcid.org/0000-0002-6490-7723 abnormal blood platelet morphology MESH:A11.118.188 any structural anomaly of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin abnormal platelet delta granule morphology abnormal platelet delta-granule morphology abnormal platelet dense body morphology abnormal thrombocyte dense granule morphology MPheno.ontology MP:0004721 abnormal platelet dense granule morphology MP:0004721 any structural anomaly of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin MGI:llw2 altered number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin abnormal platelet delta granule number abnormal platelet delta-granule number abnormal thrombocyte dense granule number MPheno.ontology abnormal number of platelet dense granules MP:0004722 abnormal platelet dense granule number MP:0004722 altered number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin MGI:llw2 anomaly in the amount in platelets of serotonin, a biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity abnormal platelet 5-HT level abnormal platelet 5-hydroxytryptamine level abnormal platelet enteramine level abnormal platelet hippophaine level abnormal platelet hydroxytryptamine level MPheno.ontology MP:0004723 abnormal platelet serotonin level MP:0004723 anomaly in the amount in platelets of serotonin, a biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity MESH:D02.092.211.215.801.852 greater than normal amount in platelets of serotonin, a biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity increased platelet 5-HT level increased platelet 5-hydroxytryptamine level increased platelet enteramine level increased platelet hippophaine level increased platelet hydroxytryptamine level MPheno.ontology MP:0004724 increased platelet serotonin level MP:0004724 greater than normal amount in platelets of serotonin, a biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity ISBN:0-683-40008-8 MESH:D02.092.211.215.801.852 reduced amount in platelets of serotonin, a biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity decreased platelet 5-HT level decreased platelet 5-hydroxytryptamine level decreased platelet enteramine level decreased platelet hippophaine level decreased platelet hydroxytryptamine level reduced platelet serotonin level MPheno.ontology MP:0004725 decreased platelet serotonin level MP:0004725 reduced amount in platelets of serotonin, a biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity ISBN:0-683-40008-8 MESH:D02.092.211.215.801.852 any structural anomaly in the cartilage around the developing nasal cavity of the embryo MPheno.ontology MP:0004726 abnormal nasal capsule morphology MP:0004726 any structural anomaly in the cartilage around the developing nasal cavity of the embryo https://orcid.org/0000-0002-6490-7723 absence of the elongated structure connected to the posterior surface of the testis, consisting of the head, body, and tail, which turns sharply on itself to become the ductus deferens (vas deferens) MPheno.ontology MP:0004727 absent epididymis MP:0004727 absence of the elongated structure connected to the posterior surface of the testis, consisting of the head, body, and tail, which turns sharply on itself to become the ductus deferens (vas deferens) https://orcid.org/0000-0002-6490-7723 any structural anomaly in the small seminal ducts that lead from the testis to the head of the epididymis abnormal ductuli efferentes testis abnormal efferent duct abnormal vas efferens MPheno.ontology MP:0004728 abnormal efferent ductules of testis morphology MP:0004728 any structural anomaly in the small seminal ducts that lead from the testis to the head of the epididymis https://orcid.org/0000-0002-6490-7723 absence of the small seminal ducts that lead from the testis to the head of the epididymis absent ductuli efferentes testis absent efferent duct absent vas efferens MPheno.ontology MP:0004729 absent efferent ductules of testis MP:0004729 absence of the small seminal ducts that lead from the testis to the head of the epididymis https://orcid.org/0000-0002-6490-7723 anomalous concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters MPheno.ontology MP:0004730 abnormal circulating gastrin level MP:0004730 anomalous concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters ISBN:0-683-40008-8 greater concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters hypergastrinaemia hypergastrinemia MPheno.ontology MP:0004731 increased circulating gastrin level MP:0004731 greater concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters ISBN:0-683-40008-8 reduced concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters hypogastrinaemia hypogastrinemia reduced circulating gastrin level MPheno.ontology MP:0004732 decreased circulating gastrin level MP:0004732 reduced concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters ISBN:0-683-40008-8 any structural anomaly of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway abnormal rib cavity MPheno.ontology MP:0004733 abnormal thoracic cavity morphology MP:0004733 any structural anomaly of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway https://orcid.org/0000-0003-3691-0324 reduced size of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway decreased thoracic cavity size reduced thoracic cavity size MPheno.ontology MP:0004734 small thoracic cavity MP:0004734 reduced size of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway https://orcid.org/0000-0003-3691-0324 increased size of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway increased thoracic cavity size MPheno.ontology MP:0004735 enlarged thoracic cavity MP:0004735 increased size of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway https://orcid.org/0000-0003-3691-0324 any abnormality in the sound produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies; this measurement is particularly useful in assessing the functional state of OHCs abnormal DPOAE(s) MPheno.ontology MP:0004736 abnormal distortion product otoacoustic emission MP:0004736 any abnormality in the sound produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies; this measurement is particularly useful in assessing the functional state of OHCs eMedicine:http://www.emedicine.com/ent/topic372.htm https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 failure to create mechanical distortions in the inner ear when two primary tones are presented, indicating failure of outer hair cells to amplify basilar membrane motion absent DPOAEs MPheno.ontology MP:0004737 absent distortion product otoacoustic emissions MP:0004737 failure to create mechanical distortions in the inner ear when two primary tones are presented, indicating failure of outer hair cells to amplify basilar membrane motion https://orcid.org/0000-0002-6490-7723 anomaly in the electrical activity generated in the ascending auditory system in response to short tone bursts; may be used to evaluate sensorineural hearing function; measurements may include the amplitude (the number of neurons firing), latency (the speed of transmission), interpeak latency (the time between peaks), interaural latency (the difference in wave V latency between ears) and threshold abnormal ABRs abnormal BAEP(s) abnormal brainstem auditory brainstem response(s) abnormal brainstem auditory evoked potential abnormal brainstem evoked responses MPheno.ontology MP:0004738 abnormal auditory brainstem response MP:0004738 anomaly in the electrical activity generated in the ascending auditory system in response to short tone bursts; may be used to evaluate sensorineural hearing function; measurements may include the amplitude (the number of neurons firing), latency (the speed of transmission), interpeak latency (the time between peaks), interaural latency (the difference in wave V latency between ears) and threshold https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 progressive hearing loss due to lesions in the external auditory canal or middle ear MP:0004291 abnormal middle-ear sound conduction MPheno.ontology MP:0004739 conductive hearing loss MP:0004739 progressive hearing loss due to lesions in the external auditory canal or middle ear https://orcid.org/0000-0002-6490-7723 a form of progressive hearing loss due to a lesion of the auditory division of cranial nerve VIII or the inner ear MPheno.ontology MP:0004740 sensorineural hearing loss MP:0004740 a form of progressive hearing loss due to a lesion of the auditory division of cranial nerve VIII or the inner ear https://orcid.org/0000-0002-6490-7723 progressive reduction in the ability to hear resulting from a combination of conductive and sensorineural hearing loss MPheno.ontology MP:0004741 mixed hearing loss MP:0004741 progressive reduction in the ability to hear resulting from a combination of conductive and sensorineural hearing loss https://orcid.org/0000-0002-6490-7723 any functional anomaly of the sensory system responsible for the sense of head position and movement of the body through space; such anomalies may result in impaired balance, dizziness, poor regulation of postural muscle tone and inability to detect quick movements of the head MPheno.ontology MP:0004742 abnormal vestibular system physiology MP:0004742 any functional anomaly of the sensory system responsible for the sense of head position and movement of the body through space; such anomalies may result in impaired balance, dizziness, poor regulation of postural muscle tone and inability to detect quick movements of the head https://orcid.org/0000-0003-3691-0324 anomaly in the biphasic response elicited by loud clicks or tone bursts recorded from the tonically contracted sternocleidomastoid muscle; normally, acoustic stimulation of the saccule gives rise to a vestibulocollic reflex, the output of which can be measured in the neck as inhibition of activity in the ipsilateral sternocleidomastoid muscle; VEMP testing provides diagnostic information about saccular and/or inferior vestibular nerve function (assessment of balance disorders) abnormal VEMP(s) MPheno.ontology MP:0004743 abnormal vestibular evoked myogenic potential MP:0004743 anomaly in the biphasic response elicited by loud clicks or tone bursts recorded from the tonically contracted sternocleidomastoid muscle; normally, acoustic stimulation of the saccule gives rise to a vestibulocollic reflex, the output of which can be measured in the neck as inhibition of activity in the ipsilateral sternocleidomastoid muscle; VEMP testing provides diagnostic information about saccular and/or inferior vestibular nerve function (assessment of balance disorders) https://orcid.org/0000-0002-6490-7723 reduction of the biphasic response that is elicited by loud clicks or tone bursts and recorded from the tonically contracted sternocleidomastoid muscle MPheno.ontology MP:0004744 reduced vestibular evoked myogenic potential MP:0004744 reduction of the biphasic response that is elicited by loud clicks or tone bursts and recorded from the tonically contracted sternocleidomastoid muscle https://orcid.org/0000-0002-6490-7723 absence of the biphasic response that is elicited by loud clicks or tone bursts and recorded from the tonically contracted sternocleidomastoid muscle MPheno.ontology MP:0004745 absent vestibular evoked myogenic potential MP:0004745 absence of the biphasic response that is elicited by loud clicks or tone bursts and recorded from the tonically contracted sternocleidomastoid muscle https://orcid.org/0000-0002-6490-7723 any changes in the placement, morphology or number of afferent terminals and/or their synapses in the cochlear IHC region MPheno.ontology MP:0004746 abnormal cochlear IHC afferent innervation pattern MP:0004746 any changes in the placement, morphology or number of afferent terminals and/or their synapses in the cochlear IHC region https://orcid.org/0000-0002-6490-7723 any changes in the morphology, placement or number of afferent terminals and/or their synapses in the cochlear OHC region MPheno.ontology MP:0004747 abnormal cochlear OHC afferent innervation pattern MP:0004747 any changes in the morphology, placement or number of afferent terminals and/or their synapses in the cochlear OHC region https://orcid.org/0000-0002-6490-7723 greater than normal loss of hearing associated with advancing age, manifest as reduced ability to perceive or discriminate sounds; the pattern and age of onset vary decreased resistance to age-related hearing loss decreased resistance to presbyacousia decreased resistance to presbyacusis decreased resistance to presbycusis increased susceptibility to presbyacousia increased susceptibility to presbyacusis increased susceptibility to presbycusis MPheno.ontology MP:0004748 increased susceptibility to age-related hearing loss MP:0004748 greater than normal loss of hearing associated with advancing age, manifest as reduced ability to perceive or discriminate sounds; the pattern and age of onset vary https://orcid.org/0000-0002-6490-7723 a form of progressive hearing loss that is not associated with visible abnormalities of the external ear or other signs and symptoms; the vast majority of hereditary hearing loss is nonsyndromic and can be associated with abnormalities of the middle ear and/or inner ear MPheno.ontology MP:0004749 nonsyndromic hearing loss MP:0004749 a form of progressive hearing loss that is not associated with visible abnormalities of the external ear or other signs and symptoms; the vast majority of hereditary hearing loss is nonsyndromic and can be associated with abnormalities of the middle ear and/or inner ear https://orcid.org/0000-0002-6490-7723 a form of progressive hearing loss that is usually associated with malformations of the external ear and other inherited signs and symptoms MPheno.ontology MP:0004750 syndromic hearing loss MP:0004750 a form of progressive hearing loss that is usually associated with malformations of the external ear and other inherited signs and symptoms https://orcid.org/0000-0002-6490-7723 compared to controls, a greater length of time that transplanted tissue, in which the donor and recipient are genetically similar (same species) but not genetically identical, retains function and/or remains alive MPheno.ontology MP:0004751 increased length of allograft survival MP:0004751 compared to controls, a greater length of time that transplanted tissue, in which the donor and recipient are genetically similar (same species) but not genetically identical, retains function and/or remains alive https://orcid.org/0000-0003-3691-0324 compared to controls, a reduced length of time that transplanted tissue, in which the donor and recipient are genetically similar (same species) but not genetically identical, retains function and/or remains alive reduced length of allograft survival MPheno.ontology MP:0004752 decreased length of allograft survival MP:0004752 compared to controls, a reduced length of time that transplanted tissue, in which the donor and recipient are genetically similar (same species) but not genetically identical, retains function and/or remains alive https://orcid.org/0000-0003-3691-0324 defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse abnormal mEPSCs abnormal miniature excitatory post-synaptic currents MPheno.ontology MP:0004753 abnormal miniature excitatory postsynaptic currents MP:0004753 defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse https://orcid.org/0000-0003-4606-0597 any structural anomaly of the kidney ducts lined by simple cuboidal epithelium that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance; each cortical collecting duct joints with other ducts to make a medullary connecting duct, which eventually drains into a papillary duct, emptying urine into the renal pelvis for drainage into the ureter abnormal collecting tubule morphology abnormal kidney collecting tube morphology abnormal kidney collecting tubule morphology abnormal renal collecting duct morphology abnormal renal collecting tube morphology MPheno.ontology MP:0004754 abnormal kidney collecting duct morphology MP:0004754 any structural anomaly of the kidney ducts lined by simple cuboidal epithelium that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance; each cortical collecting duct joints with other ducts to make a medullary connecting duct, which eventually drains into a papillary duct, emptying urine into the renal pelvis for drainage into the ureter https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine MA:0001675 abnormal ansa nephroni morphology abnormal limb of Henle MPheno.ontology abnormal Henle's loop morphology abnormal nephron loop morphology MP:0004755 abnormal loop of Henle morphology MP:0004755 any structural anomaly of the section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine https://orcid.org/0000-0003-3691-0324 any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes; the most distinctive characteristic of the proximal tubule is its brush border (or striated border), not found in the distal convoluted tubule abnormal proximal kidney tubule abnormal proximal renal tubule abnormal proximal tubule MPheno.ontology MP:0004756 abnormal proximal convoluted tubule morphology MP:0004756 any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes; the most distinctive characteristic of the proximal tubule is its brush border (or striated border), not found in the distal convoluted tubule https://orcid.org/0000-0003-3691-0324 any structural anomaly of the convoluted portion of the duct system of the nephron between the ascending portion of the loop of Henle and the collecting duct system in the kidney cortex; it is partly responsible for the regulation of potassium, sodium, calcium, and pH through the endocrine system MPheno.ontology MP:0004757 abnormal distal convoluted tubule morphology MP:0004757 any structural anomaly of the convoluted portion of the duct system of the nephron between the ascending portion of the loop of Henle and the collecting duct system in the kidney cortex; it is partly responsible for the regulation of potassium, sodium, calcium, and pH through the endocrine system https://orcid.org/0000-0003-3691-0324 absence or loss of the polarized columnar cells of epithelial origin which cover the lateral surface of the cochlear duct, secrete potassium ions and form a continuous sheet in contact with the endolymph MPheno.ontology MP:0004758 absent strial marginal cells MP:0004758 absence or loss of the polarized columnar cells of epithelial origin which cover the lateral surface of the cochlear duct, secrete potassium ions and form a continuous sheet in contact with the endolymph https://orcid.org/0000-0002-6490-7723 decreased number of cells in G2/M phase reduced mitotic index MPheno.ontology MP:0004759 decreased mitotic index MP:0004759 decreased number of cells in G2/M phase Bertram_Weiss:Bayer_Schering_Pharma_AG increased number of cells in G2/M phase MPheno.ontology MP:0004760 increased mitotic index MP:0004760 increased number of cells in G2/M phase Bertram_Weiss:Bayer_Schering_Pharma_AG more likely than normal to develop an inflammatory response, or an increased inflammatory response in the pancreatic tissue after experimental manipulation decreased resistance to induced pancreatitis MPheno.ontology MP:0004761 increased susceptibility to induced pancreatitis MP:0004761 more likely than normal to develop an inflammatory response, or an increased inflammatory response in the pancreatic tissue after experimental manipulation MGI:hdene https://orcid.org/0000-0003-3691-0324 increase in the level of antibodies that recognize double stranded DNA increased dsDNA antibody level MPheno.ontology MP:0004762 increased anti-double stranded DNA antibody level MP:0004762 increase in the level of antibodies that recognize double stranded DNA https://orcid.org/0000-0003-4606-0597 absence of the synchronous electrical activity generated by neurons in the ascending auditory system that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts; by varying frequency, cochlear function can be assessed throughout the hearing range; normally, ABR thresholds vary with frequency, from a sound pressure level (SPL) of 35 dB at 5.6 kHz (a relatively low frequency for a mouse) to 15 dB at 45.2 kHz (a relatively high frequency); each 20 dB corresponds to a tenfold change in amplitude MP:0011967 absent ABRs absent BAEP(s) absent brainstem auditory brainstem response(s) absent brainstem evoked responses MPheno.ontology MP:0004763 obsolete absent brainstem auditory evoked potential true MP:0004763 absence of the synchronous electrical activity generated by neurons in the ascending auditory system that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts; by varying frequency, cochlear function can be assessed throughout the hearing range; normally, ABR thresholds vary with frequency, from a sound pressure level (SPL) of 35 dB at 5.6 kHz (a relatively low frequency for a mouse) to 15 dB at 45.2 kHz (a relatively high frequency); each 20 dB corresponds to a tenfold change in amplitude https://orcid.org/0000-0002-6490-7723 greater synchronous electrical activity generated by neurons in the ascending auditory system that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts; by varying frequency, cochlear function can be assessed throughout the hearing range; normally, ABR thresholds vary with frequency, from a sound pressure level (SPL) of 35 dB at 5.6 kHz (a relatively low frequency for a mouse) to 15 dB at 45.2 kHz (a relatively high frequency); each 20 dB corresponds to a tenfold change in amplitude; decreases in auditory thresholds required to generate a response may indicate a increased potential increased ABRs increased BAEP(s) increased brainstem auditory brainstem response(s) increased brainstem evoked responses decreased ABR threshold increased ABR amplitude MPheno.ontology MP:0004764 obsolete increased brainstem auditory evoked potential true MP:0004764 greater synchronous electrical activity generated by neurons in the ascending auditory system that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts; by varying frequency, cochlear function can be assessed throughout the hearing range; normally, ABR thresholds vary with frequency, from a sound pressure level (SPL) of 35 dB at 5.6 kHz (a relatively low frequency for a mouse) to 15 dB at 45.2 kHz (a relatively high frequency); each 20 dB corresponds to a tenfold change in amplitude; decreases in auditory thresholds required to generate a response may indicate a increased potential https://orcid.org/0000-0002-6490-7723 reduction in the synchronous electrical activity generated by neurons in the ascending auditory system that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts; by varying frequency, cochlear function can be assessed throughout the hearing range; normally, ABR thresholds vary with frequency, from a sound pressure level (SPL) of 35 dB at 5.6 kHz (a relatively low frequency for a mouse) to 15 dB at 45.2 kHz (a relatively high frequency); each 20 dB corresponds to a tenfold change in amplitude; increases in auditory thresholds required to generate a response may indicate a decreased potential decreased ABRs decreased BAEP(s) decreased brainstem auditory brainstem response(s) decreased brainstem evoked responses reduced ABRs reduced BAEP(s) reduced brainstem auditory evoked potential decreased ABR amplitude increased ABR threshold MPheno.ontology MP:0004765 obsolete decreased brainstem auditory evoked potential true MP:0004765 reduction in the synchronous electrical activity generated by neurons in the ascending auditory system that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts; by varying frequency, cochlear function can be assessed throughout the hearing range; normally, ABR thresholds vary with frequency, from a sound pressure level (SPL) of 35 dB at 5.6 kHz (a relatively low frequency for a mouse) to 15 dB at 45.2 kHz (a relatively high frequency); each 20 dB corresponds to a tenfold change in amplitude; increases in auditory thresholds required to generate a response may indicate a decreased potential https://orcid.org/0000-0002-6490-7723 less than normal loss of hearing associated with advancing age, manifest as reduced ability to perceive or discriminate sounds; the pattern and age of onset vary increased resistance to age-related hearing loss MPheno.ontology MP:0004766 decreased susceptibility to age-related hearing loss MP:0004766 less than normal loss of hearing associated with advancing age, manifest as reduced ability to perceive or discriminate sounds; the pattern and age of onset vary https://orcid.org/0000-0002-6490-7723 greater combined potentials resulting from activation of the auditory division of the eighth cranial nerve MPheno.ontology increased auditory nerve compound action potential MP:0004767 increased cochlear nerve compound action potential MP:0004767 greater combined potentials resulting from activation of the auditory division of the eighth cranial nerve https://orcid.org/0000-0002-6490-7723 any functional anomaly of the directed movement of organelles or vesicles along microtubules in nerve cell axons MPheno.ontology MP:0004768 abnormal axonal transport MP:0004768 any functional anomaly of the directed movement of organelles or vesicles along microtubules in nerve cell axons https://orcid.org/0000-0003-3691-0324 any structural anomaly of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents abnormal neurotransmitter vesicle MPheno.ontology MP:0004769 abnormal synaptic vesicle morphology MP:0004769 any structural anomaly of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents https://orcid.org/0000-0003-3691-0324 any functional anomaly in the process of the fusion of a subpopulation of synaptic vesicles with the cell membrane at the active zone, the subsequent endocytosis back from the plasma membrane, the refilling of these vesicles with neurotransmitters, and trafficking back to the active zone pool of vesicles MPheno.ontology MP:0004770 abnormal synaptic vesicle recycling MP:0004770 any functional anomaly in the process of the fusion of a subpopulation of synaptic vesicles with the cell membrane at the active zone, the subsequent endocytosis back from the plasma membrane, the refilling of these vesicles with neurotransmitters, and trafficking back to the active zone pool of vesicles https://orcid.org/0000-0003-3691-0324 increase in the level of antibodies that recognize single stranded DNA increased anti-ssDNA antibody level MPheno.ontology MP:0004771 increased anti-single stranded DNA antibody level MP:0004771 increase in the level of antibodies that recognize single stranded DNA https://orcid.org/0000-0003-3691-0324 any anomaly in the quantity or rate of bile secreted through the bile ducts in a given length of time MPheno.ontology MP:0004772 abnormal bile secretion MP:0004772 any anomaly in the quantity or rate of bile secreted through the bile ducts in a given length of time https://orcid.org/0000-0003-3691-0324 any alteration in the chemical make up of the greenish-yellow fluid secreted by the liver; normally contains bile acids and salts such as sodium glycocholate and sodium taurocholate as well as cholesterol, biliverdin and bilirubin, mucus, fat, lecithin, and cells and cellular debris MPheno.ontology MP:0004773 abnormal bile composition MP:0004773 any alteration in the chemical make up of the greenish-yellow fluid secreted by the liver; normally contains bile acids and salts such as sodium glycocholate and sodium taurocholate as well as cholesterol, biliverdin and bilirubin, mucus, fat, lecithin, and cells and cellular debris ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 anomalous concentration of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats MP:0005086 abnormal bile amount abnormal bile volume MPheno.ontology abnormal bile acid level MP:0004774 abnormal bile salt level MP:0004774 anomalous concentration of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats MESH:D04.808.105 https://orcid.org/0000-0003-3691-0324 any structural anomaly in the nonsensory epithelial cells located above the vestibular melanocytes and adjacent to the sensory structures in the utricle and in the ampullae at the ends of each of the semicircular canals; these cells provide and maintain the high potassium ionic environment within the vestibular labyrinth and are therefore homologous to the marginal cells of the stria vascularis; they are joined to each other by tight junctions and provide a barrier between endolymph and perilymph MPheno.ontology MP:0004775 abnormal vestibular dark cell morphology MP:0004775 any structural anomaly in the nonsensory epithelial cells located above the vestibular melanocytes and adjacent to the sensory structures in the utricle and in the ampullae at the ends of each of the semicircular canals; these cells provide and maintain the high potassium ionic environment within the vestibular labyrinth and are therefore homologous to the marginal cells of the stria vascularis; they are joined to each other by tight junctions and provide a barrier between endolymph and perilymph https://orcid.org/0000-0002-6490-7723 degeneration or loss of the nonsensory epithelial cells that lie adjacent to the sensory structures in the utricle and in the ampullae at the ends of each of the semicircular canals MPheno.ontology MP:0004776 vestibular dark cell degeneration MP:0004776 degeneration or loss of the nonsensory epithelial cells that lie adjacent to the sensory structures in the utricle and in the ampullae at the ends of each of the semicircular canals https://orcid.org/0000-0002-6490-7723 anomalous concentration of the fat derivatives in which one fatty acid has been replaced by a phosphate group MPheno.ontology MP:0004777 abnormal phospholipid level MP:0004777 anomalous concentration of the fat derivatives in which one fatty acid has been replaced by a phosphate group https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 greater than normal number of a type of macrophage containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions increased foam cell number increased number of foam cells CL:0000517 MPheno.ontology MP:0004778 increased macrophage derived foam cell number MP:0004778 greater than normal number of a type of macrophage containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions CL:0000517 true MP:0004779 anomaly in the production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli MP:0004779 abnormal production of surfactant MPheno.ontology MP:0004780 abnormal surfactant secretion MP:0004780 anomaly in the production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli https://orcid.org/0000-0003-3691-0324 anomaly in the chemical constituents of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli MPheno.ontology MP:0004781 abnormal surfactant composition MP:0004781 anomaly in the chemical constituents of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli https://orcid.org/0000-0003-3691-0324 anomaly in the production, composition or function of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli MPheno.ontology MP:0004782 abnormal surfactant physiology MP:0004782 anomaly in the production, composition or function of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli https://orcid.org/0000-0003-3691-0324 any structural anomaly of any of the four veins in the developing vertebrate embryo which run along each side of the vertebral column MPheno.ontology MP:0004783 abnormal cardinal vein morphology MP:0004783 any structural anomaly of any of the four veins in the developing vertebrate embryo which run along each side of the vertebral column https://orcid.org/0000-0003-3691-0324 any structural anomaly of the two paired veins draining the cephalic part of the body MPheno.ontology MP:0004784 abnormal anterior cardinal vein morphology MP:0004784 any structural anomaly of the two paired veins draining the cephalic part of the body ISBN:0-683-40008-8 any structural anomaly of the two paired veins draining the caudal part of the body MPheno.ontology MP:0004785 abnormal posterior cardinal vein morphology MP:0004785 any structural anomaly of the two paired veins draining the caudal part of the body ISBN:0-683-40008-8 any structural anomaly of the anastomosis of the anterior and posterior cardinal veins that returns blood to the developing heart abnormal Cuvier duct morphology abnormal duct of Cuvier MPheno.ontology MP:0004786 abnormal common cardinal vein morphology MP:0004786 any structural anomaly of the anastomosis of the anterior and posterior cardinal veins that returns blood to the developing heart ISBN:0-683-40008-8 any structural anomaly of the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation abnormal embryonic dorsal aorta morphology MPheno.ontology MP:0004787 abnormal dorsal aorta morphology MP:0004787 any structural anomaly of the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation ISBN:0-914294-08-3 any abnormality in the spatial arrangement of structures that subserve various frequencies in the region of the cerebral cortex that receives the auditory radiation from the medial geniculate body MPheno.ontology MP:0004788 abnormal auditory cortex tonotopy MP:0004788 any abnormality in the spatial arrangement of structures that subserve various frequencies in the region of the cerebral cortex that receives the auditory radiation from the medial geniculate body https://orcid.org/0000-0002-6490-7723 increased concentration of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats increased bile acid level MPheno.ontology MP:0004789 increased bile salt level MP:0004789 increased concentration of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats MESH:D04.808.105 https://orcid.org/0000-0003-3691-0324 absence of the upper pair of long teeth that are the most anterior and prominent in the jaw absent maxillary incisors agenesis of maxillary incisors agenesis of upper incisors aplasia of maxillary incisors aplasia of upper incisors maxillary incisor agenesis maxillary incisor aplasia missing maxillary incisors missing upper incisors MPheno.ontology MP:0004790 absent upper incisors MP:0004790 absence of the upper pair of long teeth that are the most anterior and prominent in the jaw https://orcid.org/0000-0003-4606-0597 missing the lower pair of long teeth that are the most anterior and prominent in the jaw absent mandibular incisors agenesis of lower incisors agenesis of mandibular incisors aplasia of lower incisors aplasia of mandibular incisors mandibular incisor agenesis mandibular incisor aplasia missing lower incisors missing mandibular incisors MPheno.ontology MP:0004791 absent lower incisors MP:0004791 missing the lower pair of long teeth that are the most anterior and prominent in the jaw https://orcid.org/0000-0003-4606-0597 anomaly in the number of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents MPheno.ontology MP:0004792 abnormal synaptic vesicle number MP:0004792 anomaly in the number of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents https://orcid.org/0000-0003-3691-0324 any functional anomaly in the process of accumulation of synaptic vesicles at the active zone of presynaptic membranes MPheno.ontology MP:0004793 abnormal synaptic vesicle clustering MP:0004793 any functional anomaly in the process of accumulation of synaptic vesicles at the active zone of presynaptic membranes https://orcid.org/0000-0003-3691-0324 elevated level of antibodies to nuclear antigens present in the sera increased ANA level MPheno.ontology MP:0004794 increased anti-nuclear antigen antibody level MP:0004794 elevated level of antibodies to nuclear antigens present in the sera https://orcid.org/0000-0003-3691-0324 reduced level of antibodies to nuclear antigens present in the sera reduced anti-nuclear antigen antibody level MPheno.ontology MP:0004795 decreased anti-nuclear antigen antibody level MP:0004795 reduced level of antibodies to nuclear antigens present in the sera https://orcid.org/0000-0003-3691-0324 elevated level of antibodies to histones present in the sera MPheno.ontology MP:0004796 increased anti-histone antibody level MP:0004796 elevated level of antibodies to histones present in the sera https://orcid.org/0000-0003-3691-0324 elevated level of antibodies to erythrocyte antigen present in the sera increased anti-RBC antibody level MPheno.ontology MP:0004797 increased anti-erythrocyte antigen antibody level MP:0004797 elevated level of antibodies to erythrocyte antigen present in the sera https://orcid.org/0000-0003-3691-0324 reduced level of antibodies to double stranded DNA present in the sera reduced anti-double stranded DNA antibody level MPheno.ontology MP:0004798 decreased anti-double stranded DNA antibody level MP:0004798 reduced level of antibodies to double stranded DNA present in the sera https://orcid.org/0000-0003-3691-0324 greater likelihood that an organism will develop disease symptoms similar to human multiple sclerosis upon induction with antigens to Myelin Basic Protein (MBP), Proteolipid Protein (PLP), and/or Myelin Oligodendrocyte glycoprotein (MOG) decreased resistance to EAE decreased resistance to experimental allergic encephalitis decreased resistance to experimental allergic encephalomyelitis decreased resistance to experimental autoimmune encephalomyelitis increased susceptibility to EAE increased susceptibility to experimental allergic encephalitis increased susceptibility to experimental allergic encephalomyelitis MPheno.ontology MP:0004799 increased susceptibility to experimental autoimmune encephalomyelitis MP:0004799 greater likelihood that an organism will develop disease symptoms similar to human multiple sclerosis upon induction with antigens to Myelin Basic Protein (MBP), Proteolipid Protein (PLP), and/or Myelin Oligodendrocyte glycoprotein (MOG) https://orcid.org/0000-0003-3691-0324 reduced likelihood that an organism will develop disease symptoms similar to human multiple sclerosis upon induction with antigens to Myelin Basic Protein (MBP), Proteolipid Protein (PLP), and/or Myelin Oligodendrocyte glycoprotein (MOG) decreased susceptibility to EAE decreased susceptibility to experimental allergic encephalitis decreased susceptibility to experimental allergic encephalomyelitis increased resistance to EAE increased resistance to experimental allergic encephalitis increased resistance to experimental allergic encephalomyelitis increased resistance to experimental autoimmune encephalomyelitis reduced susceptibility to experimental autoimmune encephalomyelitis MPheno.ontology MP:0004800 decreased susceptibility to experimental autoimmune encephalomyelitis MP:0004800 reduced likelihood that an organism will develop disease symptoms similar to human multiple sclerosis upon induction with antigens to Myelin Basic Protein (MBP), Proteolipid Protein (PLP), and/or Myelin Oligodendrocyte glycoprotein (MOG) https://orcid.org/0000-0003-3691-0324 greater likelihood that an organism will develop inflammatory connective tissue symptoms characteristic of lupus including skin rash, arthritis and inflammation of different organs decreased resistance to SLE decreased resistance to lupus decreased resistance to systemic lupus erythematosus increased susceptibility to SLE increased susceptibility to lupus MPheno.ontology MP:0004801 increased susceptibility to systemic lupus erythematosus MP:0004801 greater likelihood that an organism will develop inflammatory connective tissue symptoms characteristic of lupus including skin rash, arthritis and inflammation of different organs https://orcid.org/0000-0003-3691-0324 reduced likelihood that an organism will develop inflammatory connective tissue symptoms characteristic of lupus including skin rash, arthritis and inflammation of different organs decreased susceptibility to SLE decreased susceptibility to lupus increased resistance to SLE increased resistance to lupus increased resistance to systemic lupus erythematosus reduced susceptibility to systemic lupus erythematosus MPheno.ontology MP:0004802 decreased susceptibility to systemic lupus erythematosus MP:0004802 reduced likelihood that an organism will develop inflammatory connective tissue symptoms characteristic of lupus including skin rash, arthritis and inflammation of different organs https://orcid.org/0000-0003-3691-0324 greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas decreased resistance to autoimmune diabetes MPheno.ontology MP:0004803 increased susceptibility to autoimmune diabetes MP:0004803 greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas https://orcid.org/0000-0003-3691-0324 reduced likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas increased resistance to autoimmune diabetes reduced susceptibility to autoimmune diabetes MPheno.ontology MP:0004804 decreased susceptibility to autoimmune diabetes MP:0004804 reduced likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas https://orcid.org/0000-0003-3691-0324 absence of mature germ cells in the female MPheno.ontology MP:0004805 absent oocytes MP:0004805 absence of mature germ cells in the female https://orcid.org/0000-0003-3691-0324 absence of germ cells, that is, any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated MPheno.ontology MP:0004806 absent germ cells MP:0004806 absence of germ cells, that is, any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated ISBN:0-683-40008-8 any anomaly in the suppressive response of central synapses when activated twice in rapid succession abnormal PPI abnormal PPD abnormal paired pulse depression abnormal paired pulse inhibition abnormal paired-pulse depression MPheno.ontology MP:0004807 abnormal paired-pulse inhibition MP:0004807 any anomaly in the suppressive response of central synapses when activated twice in rapid succession https://orcid.org/0000-0003-3691-0324 any structural anomaly or number of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages abnormal haematopoietic progenitor cell morphology abnormal haematopoietic stem cell morphology abnormal haemopoietic progenitor cell morphology abnormal hematopoietic progenitor cell morphology abnormal hemopoietic progenitor cell morphology abnormal LSK cell morphology MPheno.ontology abnormal HSCs MP:0004808 abnormal hematopoietic stem cell morphology MP:0004808 any structural anomaly or number of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages https://orcid.org/0000-0003-3691-0324 greater cell count of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages increased HSCs increased haematopoietic progenitor cell number increased haematopoietic stem cell number increased haemopoietic progenitor cell number increased hematopoietic progenitor cell number increased hemopoietic progenitor cell number increased number of hematopoietic stem cells increased LSK cell number MPheno.ontology MP:0004809 increased hematopoietic stem cell number MP:0004809 greater cell count of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages https://orcid.org/0000-0003-3691-0324 reduced cell count of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages decreased HSCs decreased haematopoietic progenitor cell number decreased haematopoietic stem cell number decreased haemopoietic progenitor cell number decreased hematopoietic progenitor cell number decreased hemopoietic progenitor cell number reduced haematopoietic stem cell number reduced hematopoietic stem cell number decreased LSK cell number MPheno.ontology decreased number of hematopoietic stem cells MP:0004810 decreased hematopoietic stem cell number MP:0004810 reduced cell count of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages https://orcid.org/0000-0003-3691-0324 any functional anomaly of the cells of the nervous system that receive, conduct, and transmit impulses MPheno.ontology MP:0004811 abnormal neuron physiology MP:0004811 any functional anomaly of the cells of the nervous system that receive, conduct, and transmit impulses MESH:A08.663 anomaly in the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head); normally, this response is measured by electrophysiological activity of the peripheral vestibular nerve; this assesses the function of the gravity receptor system including the utricles and saccules of the inner ear abnormal VeSPs abnormal linear vestibular compound action potentials MPheno.ontology MP:0004812 abnormal linear vestibular evoked potential MP:0004812 anomaly in the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head); normally, this response is measured by electrophysiological activity of the peripheral vestibular nerve; this assesses the function of the gravity receptor system including the utricles and saccules of the inner ear https://orcid.org/0000-0003-3691-0324 absence of the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head) MPheno.ontology MP:0004813 absent linear vestibular evoked potential MP:0004813 absence of the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head) https://orcid.org/0000-0003-3691-0324 reduction of the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head) MPheno.ontology MP:0004814 reduced linear vestibular evoked potential MP:0004814 reduction of the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head) https://orcid.org/0000-0003-3691-0324 any anomaly in the high frequency of programmed mutation that occurs in the gene segments encoding the variable regions of antibodies during the differentiation of individual B lymphocytes into antibody producing plasma cells abnormal SHM MPheno.ontology MP:0004815 abnormal somatic hypermutation frequency MP:0004815 any anomaly in the high frequency of programmed mutation that occurs in the gene segments encoding the variable regions of antibodies during the differentiation of individual B lymphocytes into antibody producing plasma cells https://orcid.org/0000-0003-3691-0324 anomaly in the rearrangement of the heavy chain genes of differentiating B cells such that the initially encoded heavy chain IgM molecule is altered to one encoding IgG, IgA or IgE; normally, this allows the body to produce antibodies with different effector functions abnormal CSR abnormal isotype switching MPheno.ontology MP:0004816 abnormal class switch recombination MP:0004816 anomaly in the rearrangement of the heavy chain genes of differentiating B cells such that the initially encoded heavy chain IgM molecule is altered to one encoding IgG, IgA or IgE; normally, this allows the body to produce antibodies with different effector functions https://orcid.org/0000-0003-3691-0324 anomaly in the physical bulk, or total amount of matter contained within skeletal muscle MPheno.ontology MP:0004817 abnormal skeletal muscle mass MP:0004817 anomaly in the physical bulk, or total amount of matter contained within skeletal muscle https://orcid.org/0000-0003-3691-0324 increase in the physical bulk, or total amount of matter contained within skeletal muscle hypermuscularity MPheno.ontology MP:0004818 increased skeletal muscle mass MP:0004818 increase in the physical bulk, or total amount of matter contained within skeletal muscle https://orcid.org/0000-0003-3691-0324 reduction in the physical bulk, or total amount of matter contained within skeletal muscle reduced skeletal muscle mass MPheno.ontology MP:0004819 decreased skeletal muscle mass MP:0004819 reduction in the physical bulk, or total amount of matter contained within skeletal muscle https://orcid.org/0000-0003-3691-0324 any change in the amount of potassium in the urine MP:0006311 abnormal kidney potassium excretion abnormal renal potassium secretion MPheno.ontology MP:0004820 abnormal urine potassium level MP:0004820 any change in the amount of potassium in the urine https://orcid.org/0000-0003-3691-0324 greater likelihood that an organism will develop disease symptoms similar to human sight-threatening inflammatory eye diseases upon induction by peripheral immunization with one of several uveitogenic retinal proteins (or with peptides derived from them), or by the adoptive transfer of lymphocytes specific to these antigens decreased resistance to EAU decreased resistance to experimental autoimmune uveitis decreased resistance to experimental autoimmune uveoretinitis increased susceptibility to EAU increased susceptibility to experimental autoimmune uveitis MPheno.ontology MP:0004821 increased susceptibility to experimental autoimmune uveoretinitis MP:0004821 greater likelihood that an organism will develop disease symptoms similar to human sight-threatening inflammatory eye diseases upon induction by peripheral immunization with one of several uveitogenic retinal proteins (or with peptides derived from them), or by the adoptive transfer of lymphocytes specific to these antigens https://orcid.org/0000-0003-3691-0324 reduced likelihood that an organism will develop disease symptoms similar to human sight-threatening inflammatory eye diseases upon induction by peripheral immunization with one of several uveitogenic retinal proteins (or with peptides derived from them), or by the adoptive transfer of lymphocytes specific to these antigens decreased susceptibility to EAU decreased susceptibility to experimental autoimmune uveitis increased resistance to EAU increased resistance to experimental autoimmune uveitis increased resistance to experimental autoimmune uveoretinitis MPheno.ontology reduced susceptibility to experimental autoimmune uveoretinitis MP:0004822 decreased susceptibility to experimental autoimmune uveoretinitis MP:0004822 reduced likelihood that an organism will develop disease symptoms similar to human sight-threatening inflammatory eye diseases upon induction by peripheral immunization with one of several uveitogenic retinal proteins (or with peptides derived from them), or by the adoptive transfer of lymphocytes specific to these antigens https://orcid.org/0000-0003-3691-0324 greater likelihood that an organism will develop disease symptoms similar to human myasthenia gravis upon induction with antigens to acetylcholine receptor subunits decreased resistance to EAMG decreased resistance to experimental autoimmune myasthenia gravis increased susceptibility to EAMG MPheno.ontology MP:0004823 increased susceptibility to experimental autoimmune myasthenia gravis MP:0004823 greater likelihood that an organism will develop disease symptoms similar to human myasthenia gravis upon induction with antigens to acetylcholine receptor subunits https://orcid.org/0000-0003-3691-0324 reduced likelihood that an organism will develop disease symptoms similar to human myasthenia gravis upon induction with antigens to acetylcholine receptor subunits decreased susceptibility to EAMG increased resistance to EAMG increased resistance to experimental autoimmune myasthenia gravis reduced susceptibility to experimental autoimmune myasthenia gravis MPheno.ontology MP:0004824 decreased susceptibility to experimental autoimmune myasthenia gravis MP:0004824 reduced likelihood that an organism will develop disease symptoms similar to human myasthenia gravis upon induction with antigens to acetylcholine receptor subunits https://orcid.org/0000-0003-3691-0324 greater likelihood that an organism will develop disease symptoms similar to human autoimmune thyroiditis upon induction with antigens to thyroglobulin decreased resistance to EAT decreased resistance to experimental autoimmune thyroiditis increased susceptibility to EAT MPheno.ontology MP:0004825 increased susceptibility to experimental autoimmune thyroiditis MP:0004825 greater likelihood that an organism will develop disease symptoms similar to human autoimmune thyroiditis upon induction with antigens to thyroglobulin https://orcid.org/0000-0003-3691-0324 reduced likelihood that an organism will develop disease symptoms similar to human autoimmune thyroiditis upon induction with antigens to thyroglobulin decreased susceptibility to EAT increased resistance to EAT increased resistance to experimental autoimmune thyroiditis reduced susceptibility to experimental autoimmune thyroiditis MPheno.ontology MP:0004826 decreased susceptibility to experimental autoimmune thyroiditis MP:0004826 reduced likelihood that an organism will develop disease symptoms similar to human autoimmune thyroiditis upon induction with antigens to thyroglobulin https://orcid.org/0000-0003-3691-0324 greater likelihood that an organism will develop an abnormality of the immune system that destroys red blood cells (hemolysis) prematurely decreased resistance to autoimmune hemolytic anaemia decreased resistance to autoimmune hemolytic anemia decreased resistance to idiopathic autoimmune hemolytic anaemia (AIHA) decreased resistance to idiopathic autoimmune hemolytic anemia (AIHA) decreased resistance to immune mediated hemolytic anaemia (IMHA) decreased resistance to immune mediated hemolytic anemia (IMHA) increased susceptibility to autoimmune haemolytic anaemia increased susceptibility to autoimmune hemolytic anaemia increased susceptibility to idiopathic autoimmune hemolytic anaemia (AIHA) increased susceptibility to idiopathic autoimmune hemolytic anemia (AIHA) increased susceptibility to immune mediated hemolytic anaemia (IMHA) increased susceptibility to immune mediated hemolytic anemia (IMHA) MPheno.ontology MP:0004827 increased susceptibility to autoimmune hemolytic anemia MP:0004827 greater likelihood that an organism will develop an abnormality of the immune system that destroys red blood cells (hemolysis) prematurely https://orcid.org/0000-0003-3691-0324 reduced likelihood that an organism will develop an abnormality of the immune system that destroys red blood cells (hemolysis) prematurely decreased susceptibility to autoimmune haemolytic anaemia decreased susceptibility to autoimmune hemolytic anaemia decreased susceptibility to idiopathic autoimmune hemolytic anaemia (AIHA) decreased susceptibility to idiopathic autoimmune hemolytic anemia (AIHA) decreased susceptibility to immune mediated hemolytic anaemia (IMHA) decreased susceptibility to immune mediated hemolytic anemia (IMHA) increased resistance to autoimmune hemolytic anaemia increased resistance to autoimmune hemolytic anemia increased resistance to idiopathic autoimmune hemolytic anaemia (AIHA) increased resistance to idiopathic autoimmune hemolytic anemia (AIHA) increased resistance to immune mediated hemolytic anaemia (IMHA) increased resistance to immune mediated hemolytic anemia (IMHA) reduced susceptibility to autoimmune hemolytic anaemia reduced susceptibility to autoimmune hemolytic anemia MPheno.ontology MP:0004828 decreased susceptibility to autoimmune hemolytic anemia MP:0004828 reduced likelihood that an organism will develop an abnormality of the immune system that destroys red blood cells (hemolysis) prematurely https://orcid.org/0000-0003-3691-0324 increase in the level of antibodies that recognize chromatin MPheno.ontology MP:0004829 increased anti-chromatin antibody level MP:0004829 increase in the level of antibodies that recognize chromatin https://orcid.org/0000-0003-3691-0324 reduced length of the set of long teeth that are the most anterior and prominent in the jaw decreased incisor length MPheno.ontology MP:0004830 short incisors MP:0004830 reduced length of the set of long teeth that are the most anterior and prominent in the jaw MGI:llw2 https://orcid.org/0000-0003-3691-0324 increased length of the set of long teeth that are the most anterior and prominent in the jaw increased incisor length overgrown incisors MPheno.ontology MP:0004831 long incisors MP:0004831 increased length of the set of long teeth that are the most anterior and prominent in the jaw MGI:llw2 https://orcid.org/0000-0003-3691-0324 increased size of the female reproductive gland containing the germ cells increased ovary size MPheno.ontology MP:0004832 enlarged ovary MP:0004832 increased size of the female reproductive gland containing the germ cells https://orcid.org/0000-0003-3691-0324 acquired diminution of the size of the ovaries associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes ovarian atrophy MPheno.ontology MP:0004833 ovary atrophy MP:0004833 acquired diminution of the size of the ovaries associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0003-3691-0324 presence of bleeding in the ovary ovarian haemorrhage ovarian hemorrhage ovary haemorrhage MPheno.ontology MP:0004834 ovary hemorrhage MP:0004834 presence of bleeding in the ovary https://orcid.org/0000-0003-3691-0324 defect in the size or duration of spontaneous currents detected in PNS postsynaptic cells that occur in the absence of an excitatory impulse abnormal mEPP abnormal miniature end plate potential MPheno.ontology MP:0004835 abnormal miniature endplate potential MP:0004835 defect in the size or duration of spontaneous currents detected in PNS postsynaptic cells that occur in the absence of an excitatory impulse https://orcid.org/0000-0003-3691-0324 aberrant release into synapses of the excitatory neurotransmitter found at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector junctions, and at many sites in the central nervous system abnormal AcH release MPheno.ontology MP:0004836 abnormal synaptic acetylcholine release MP:0004836 aberrant release into synapses of the excitatory neurotransmitter found at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector junctions, and at many sites in the central nervous system https://orcid.org/0000-0003-3691-0324 any anomaly in the process by which the edges of the neural plate thicken and move up to form a U-shaped structure called the neural groove abnormal neural groove formation MPheno.ontology MP:0004837 abnormal neural fold formation MP:0004837 any anomaly in the process by which the edges of the neural plate thicken and move up to form a U-shaped structure called the neural groove https://orcid.org/0000-0003-3691-0324 any anomaly in the process by which the lateral borders of the neural plate begin to migrate upwards to form the neural folds, caused by the proliferation of the underlying mesoderm MPheno.ontology MP:0004838 abnormal neural fold elevation formation MP:0004838 any anomaly in the process by which the lateral borders of the neural plate begin to migrate upwards to form the neural folds, caused by the proliferation of the underlying mesoderm https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the bile ducts, typically resulting in increased size hyperplastic bile ducts MPheno.ontology MP:0004839 bile duct hyperplasia MP:0004839 increase in the number of normal cells in normal arrangement in the bile ducts, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 increased number of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities extra Deiters cells extra row(s) of Deiters cells supernumerary Deiters cells MPheno.ontology MP:0004840 increased Deiters cell number MP:0004840 increased number of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities https://orcid.org/0000-0002-6490-7723 any structural anomaly of the parallel, tubular, epithelial pits (crypts) with openings at the bases of the small intestinal villi; their thin walls are formed by columnar epithelial cells: mostly undifferentiated stem and intermediate cells and an increasing number of mucus-secreting goblet cells as the small intestine proceeds distally, all of which migrate out of the glands onto the villi, but also protein- (enzyme-) secreting Paneth cells that remain in the glands abnormal glandulae intestini tenuis morphology abnormal small intestine crypt morphology abnormal small intestine gland morphology MPheno.ontology MP:0004841 abnormal small intestine crypts of Lieberkuhn morphology MP:0004841 any structural anomaly of the parallel, tubular, epithelial pits (crypts) with openings at the bases of the small intestinal villi; their thin walls are formed by columnar epithelial cells: mostly undifferentiated stem and intermediate cells and an increasing number of mucus-secreting goblet cells as the small intestine proceeds distally, all of which migrate out of the glands onto the villi, but also protein- (enzyme-) secreting Paneth cells that remain in the glands ISBN:0-683-40008-8 http://medical-dictionary.thefreedictionary.com/glands+of+small+intestine https://orcid.org/0000-0002-6490-7723 any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine MPheno.ontology MP:0004842 abnormal large intestine crypts of Lieberkuhn morphology MP:0004842 any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine ISBN:0-683-40008-8 any structural anomaly of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine abnormal Davidoff cell morphology abnormal Paneth granule cell morphology MPheno.ontology MP:0004843 abnormal Paneth cell morphology MP:0004843 any structural anomaly of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine https://orcid.org/0000-0003-4606-0597 any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system in which impulses are conveyed from the semicircular canals and the otolithic membrane to the oculomotor nerve; this stimulation may occur by angular acceleration or deceleration or by irrigation of the ear with hot or cold water; normally, this reflex functions to maintain a stable retinal image during head rotation by generating appropriate compensatory eye movements MP:0001477 MP:0001992 abnormal VOR abnormal eye reflex abnormal nystagmus abnormal ocular reflex abnormal vestibulo ocular reflex MPheno.ontology MP:0004844 abnormal vestibuloocular reflex MP:0004844 any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system in which impulses are conveyed from the semicircular canals and the otolithic membrane to the oculomotor nerve; this stimulation may occur by angular acceleration or deceleration or by irrigation of the ear with hot or cold water; normally, this reflex functions to maintain a stable retinal image during head rotation by generating appropriate compensatory eye movements https://orcid.org/0000-0003-3691-0324 absence of nystagmus or deviation of the eyes in response to stimulation of the vestibular system MPheno.ontology MP:0004845 absent vestibuloocular reflex MP:0004845 absence of nystagmus or deviation of the eyes in response to stimulation of the vestibular system https://orcid.org/0000-0003-3691-0324 absence of any of the striated muscle fibers connected at either or both extremities with the bony framework of the body MPheno.ontology MP:0004846 absent skeletal muscle MP:0004846 absence of any of the striated muscle fibers connected at either or both extremities with the bony framework of the body ISBN:0-683-40008-8 anomaly in the average weight of the bile-secreting exocrine gland abnormal hepatic weight MPheno.ontology MP:0004847 abnormal liver weight MP:0004847 anomaly in the average weight of the bile-secreting exocrine gland https://orcid.org/0000-0003-3691-0324 anomaly in the average size of the liver abnormal hepatic size MPheno.ontology MP:0004848 abnormal liver size MP:0004848 anomaly in the average size of the liver https://orcid.org/0000-0003-3691-0324 anomaly in the size of the male reproductive glands abnormal testes size MPheno.ontology MP:0004849 abnormal testis size MP:0004849 anomaly in the size of the male reproductive glands https://orcid.org/0000-0003-3691-0324 anomaly in the average weight of the male reproductive glands abnormal testes weight MPheno.ontology MP:0004850 abnormal testis weight MP:0004850 anomaly in the average weight of the male reproductive glands https://orcid.org/0000-0003-3691-0324 greater average weight of the male reproductive glands MPheno.ontology MP:0004851 increased testis weight MP:0004851 greater average weight of the male reproductive glands https://orcid.org/0000-0003-3691-0324 reduced average weight of the male reproductive glands reduced testis weight MPheno.ontology MP:0004852 decreased testis weight MP:0004852 reduced average weight of the male reproductive glands https://orcid.org/0000-0003-3691-0324 anomaly in the average size of the female reproductive gland containing the germ cells MPheno.ontology MP:0004853 abnormal ovary size MP:0004853 anomaly in the average size of the female reproductive gland containing the germ cells https://orcid.org/0000-0003-3691-0324 anomaly in the average weight of the female reproductive gland containing the germ cells MPheno.ontology MP:0004854 abnormal ovary weight MP:0004854 anomaly in the average weight of the female reproductive gland containing the germ cells https://orcid.org/0000-0003-3691-0324 greater average weight of the female reproductive gland containing the germ cells MPheno.ontology MP:0004855 increased ovary weight MP:0004855 greater average weight of the female reproductive gland containing the germ cells https://orcid.org/0000-0003-3691-0324 reduction in the average weight of the female reproductive gland containing the germ cells reduced ovary weight MPheno.ontology MP:0004856 decreased ovary weight MP:0004856 reduction in the average weight of the female reproductive gland containing the germ cells https://orcid.org/0000-0003-3691-0324 anomaly in the average weight of the heart compared to controls MPheno.ontology MP:0004857 abnormal heart weight MP:0004857 anomaly in the average weight of the heart compared to controls https://orcid.org/0000-0003-3691-0324 anomaly in the renewal, repair, and/or regrowth of nervous system tissue following injury or disease MPheno.ontology MP:0004858 abnormal nervous system regeneration MP:0004858 anomaly in the renewal, repair, and/or regrowth of nervous system tissue following injury or disease ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 anomaly in the ability of a synapse to change its strength as a result of successive activations MPheno.ontology MP:0004859 abnormal synaptic plasticity MP:0004859 anomaly in the ability of a synapse to change its strength as a result of successive activations ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 stretched or widened aperture of the luminal space of one or more of the kidney collecting ducts dilated kidney collecting ducts dilated kidney collecting tube dilated kidney collecting tubes dilated kidney collecting tubule dilated kidney collecting tubules dilated renal collecting duct dilated renal collecting ducts dilated renal collecting tube dilated renal collecting tubes dilated renal collecting tubule dilated renal collecting tubules kidney collecting tubule dilation renal collecting duct dilation renal collecting tubule dilation MPheno.ontology kidney collecting duct dilation MP:0004860 dilated kidney collecting duct MP:0004860 stretched or widened aperture of the luminal space of one or more of the kidney collecting ducts https://orcid.org/0000-0003-3691-0324 any structural anomaly of the subgroup of the reticular nuclei of the brain stem that are located in and along the median plane of the medulla oblongata, pons, and mesencephalon that include neurons that synthesize serotonin and extend ascending fibers to parts of the limbic system and descending fibers to other brain stem nuclei, the medulla oblongata, and the pons abnormal Raphe nuclei abnormal median column reticular nuclei MPheno.ontology MP:0004861 abnormal Raphe nucleus morphology MP:0004861 any structural anomaly of the subgroup of the reticular nuclei of the brain stem that are located in and along the median plane of the medulla oblongata, pons, and mesencephalon that include neurons that synthesize serotonin and extend ascending fibers to parts of the limbic system and descending fibers to other brain stem nuclei, the medulla oblongata, and the pons ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 volume reduction of the division of the spiral canal of the cochlea lying on the basal side of the spiral lamina reduced scala tympani MPheno.ontology MP:0004862 small scala tympani MP:0004862 volume reduction of the division of the spiral canal of the cochlea lying on the basal side of the spiral lamina https://orcid.org/0000-0002-6490-7723 reduced thickness of the periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches MPheno.ontology MP:0004863 thin spiral ligament MP:0004863 reduced thickness of the periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches https://orcid.org/0000-0002-6490-7723 degeneration or loss of the thickened periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches MPheno.ontology MP:0004864 spiral ligament degeneration MP:0004864 degeneration or loss of the thickened periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches https://orcid.org/0000-0002-6490-7723 anomaly in the amount in the platelet of calcium MPheno.ontology MP:0004865 abnormal platelet calcium level MP:0004865 anomaly in the amount in the platelet of calcium RGD:cur increased concentration in the platelet of calcium MPheno.ontology MP:0004866 increased platelet calcium level MP:0004866 increased concentration in the platelet of calcium RGD:cur decreased concentration in the platelet of calcium reduced platelet calcium level MPheno.ontology MP:0004867 decreased platelet calcium level MP:0004867 decreased concentration in the platelet of calcium RGD:cur greater than the expected number of a malignant neoplasm arising from the endometrial tissue, occurring in a specific population in a given time period MPheno.ontology endometrial carcinoma MP:0004868 increased endometrial carcinoma incidence MP:0004868 greater than the expected number of a malignant neoplasm arising from the endometrial tissue, occurring in a specific population in a given time period RGD:cur decrease in the number of normal cells in normal arrangement in the frontal bone, typically resulting in decreased size hypoplastic frontal bone MPheno.ontology MP:0004869 frontal bone hypoplasia MP:0004869 decrease in the number of normal cells in normal arrangement in the frontal bone, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 reduced size of the anterior and interior portion of the maxilla MPheno.ontology MP:0004870 small premaxilla MP:0004870 reduced size of the anterior and interior portion of the maxilla https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the premaxilla, typically resulting in decreased size hypoplastic premaxilla MPheno.ontology MP:0004871 premaxilla hypoplasia MP:0004871 decrease in the number of normal cells in normal arrangement in the premaxilla, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 absence of the structure that separates the two nasal cavities MPheno.ontology MP:0004872 absent nasal septum MP:0004872 absence of the structure that separates the two nasal cavities https://orcid.org/0000-0002-6490-7723 absence of the small curved bones that extend horizontally along the lateral wall of the nasal passage absent nasal conchae MPheno.ontology MP:0004873 absent turbinates MP:0004873 absence of the small curved bones that extend horizontally along the lateral wall of the nasal passage https://orcid.org/0000-0002-6490-7723 anomaly in the average time for the first postnatal eye opening, or failure of eyes to ever open abnormal timing of eye lid opening MPheno.ontology MP:0004874 In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later (P8-12). abnormal timing of postnatal eyelid opening MP:0004874 anomaly in the average time for the first postnatal eye opening, or failure of eyes to ever open https://orcid.org/0000-0003-3691-0324 increase in the average arterial pressure during a single cardiac cycle increased mean arterial pressure MPheno.ontology increased MAP MP:0004875 increased mean systemic arterial blood pressure MP:0004875 increase in the average arterial pressure during a single cardiac cycle https://orcid.org/0000-0003-3691-0324 decrease in the average arterial pressure during a single cardiac cycle decreased MAP decreased mean arterial pressure reduced MAP reduced mean arterial blood pressure reduced mean arterial pressure MPheno.ontology MP:0004876 decreased mean systemic arterial blood pressure MP:0004876 decrease in the average arterial pressure during a single cardiac cycle https://orcid.org/0000-0003-3691-0324 anomaly in the normal force opposing blood flow in the peripheral blood vessels abnormal SVR abnormal total peripheral resistance MPheno.ontology MP:0004877 abnormal systemic vascular resistance MP:0004877 anomaly in the normal force opposing blood flow in the peripheral blood vessels https://orcid.org/0000-0003-3691-0324 increase in the normal force opposing blood flow in the peripheral blood vessels increased SVR MPheno.ontology MP:0004878 increased systemic vascular resistance MP:0004878 increase in the normal force opposing blood flow in the peripheral blood vessels https://orcid.org/0000-0003-3691-0324 reduction in the normal force opposing blood flow in the peripheral blood vessels decreased SVR reduced systemic vascular resistance MPheno.ontology MP:0004879 decreased systemic vascular resistance MP:0004879 reduction in the normal force opposing blood flow in the peripheral blood vessels https://orcid.org/0000-0003-3691-0324 presence of one or more abnormal membranous or fluid-filled sacs in the lung cystic lung cystic lungs lung cysts pulmonary cyst pulmonary cysts MPheno.ontology MP:0004880 lung cyst MP:0004880 presence of one or more abnormal membranous or fluid-filled sacs in the lung https://orcid.org/0000-0003-3691-0324 anomaly in the size of the lung compared to controls MPheno.ontology MP:0004881 abnormal lung size MP:0004881 anomaly in the size of the lung compared to controls https://orcid.org/0000-0003-3691-0324 increased size of the lung compared to controls increased lung size MPheno.ontology MP:0004882 enlarged lung MP:0004882 increased size of the lung compared to controls https://orcid.org/0000-0003-3691-0324 anomaly in the repair process of damaged blood vessels after injury abnormal blood vessel healing abnormal neointima formation MPheno.ontology MP:0004883 abnormal vascular wound healing MP:0004883 anomaly in the repair process of damaged blood vessels after injury https://orcid.org/0009-0005-7755-8314 any functional anomaly of the male reproductive glands abnormal didymus physiology abnormal male gonad physiology abnormal testicle physiology abnormal testicular physiology abnormal testiculus physiology MPheno.ontology MP:0004884 abnormal testis physiology MP:0004884 any functional anomaly of the male reproductive glands https://orcid.org/0000-0003-4606-0597 any alteration in the normal production (volume) or ionic homeostasis of the fluid contained within the membranous labyrinth of the inner ear; unlike perilymph, endolymph resembles intracellular fluid in composition and has a high concentration of potassium ion and a low concentration of sodium ion abnormal Scarpa's fluid abnormal Scarpa's liquor abnormal endolympha MPheno.ontology MP:0004885 abnormal endolymph physiology MP:0004885 any alteration in the normal production (volume) or ionic homeostasis of the fluid contained within the membranous labyrinth of the inner ear; unlike perilymph, endolymph resembles intracellular fluid in composition and has a high concentration of potassium ion and a low concentration of sodium ion https://orcid.org/0000-0002-6490-7723 increased synthesis of the fluid that is normally contained within the membranous labyrinth of the inner ear increased Scarpa fluid production increased Scarpa liquor production increased endolympha production MPheno.ontology MP:0004886 increased endolymph production MP:0004886 increased synthesis of the fluid that is normally contained within the membranous labyrinth of the inner ear https://orcid.org/0000-0002-6490-7723 reduced synthesis of the fluid that is normally contained within the membranous labyrinth of the inner ear decreased Scarpa fluid production decreased Scarpa liquor production decreased endolympha production MPheno.ontology reduced endolymph production MP:0004887 decreased endolymph production MP:0004887 reduced synthesis of the fluid that is normally contained within the membranous labyrinth of the inner ear https://orcid.org/0000-0002-6490-7723 change in the normal production (volume) or ionic homeostasis of the fluid contained within the osseous labyrinth, surrounding and protecting the membranous labyrinth; perilymph resembles extracellular fluid in composition, has a high concentration of sodium ion and a low concentration of potassium ion and, through the perilymphatic duct, is in continuity with cerebrospinal fluid abnormal Cotunnius liquid abnormal perilympha MPheno.ontology MP:0004888 abnormal perilymph physiology MP:0004888 change in the normal production (volume) or ionic homeostasis of the fluid contained within the osseous labyrinth, surrounding and protecting the membranous labyrinth; perilymph resembles extracellular fluid in composition, has a high concentration of sodium ion and a low concentration of potassium ion and, through the perilymphatic duct, is in continuity with cerebrospinal fluid https://orcid.org/0000-0002-6490-7723 increase in the number of calories used per unit time or decrease in weight gain for a given amount of food eaten increased energy efficiency MPheno.ontology MP:0004889 increased energy expenditure MP:0004889 increase in the number of calories used per unit time or decrease in weight gain for a given amount of food eaten https://orcid.org/0000-0003-4606-0597 decrease in the number of calories used per unit time or increase in weight gain for a given amount of food eaten decreased energy efficiency reduced energy expenditure MPheno.ontology MP:0004890 decreased energy expenditure MP:0004890 decrease in the number of calories used per unit time or increase in weight gain for a given amount of food eaten https://orcid.org/0000-0003-4606-0597 abnormal level of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue MPheno.ontology MP:0004891 abnormal adiponectin level MP:0004891 abnormal level of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue https://orcid.org/0000-0003-3691-0324 greater level of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue MPheno.ontology MP:0004892 increased adiponectin level MP:0004892 greater level of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue https://orcid.org/0000-0003-3691-0324 reduced concentration of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue reduced adiponectin level MPheno.ontology MP:0004893 decreased adiponectin level MP:0004893 reduced concentration of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue https://orcid.org/0000-0003-3691-0324 acquired diminution of the size of the uterus associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes metra atrophy metral atrophy uterine atrophy MPheno.ontology MP:0004894 uterus atrophy MP:0004894 acquired diminution of the size of the uterus associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0003-3691-0324 acquired diminution of the size of the vagina associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MPheno.ontology vaginal atrophy MP:0004895 vagina atrophy MP:0004895 acquired diminution of the size of the vagina associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0003-3691-0324 any structural anomaly of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy endometrium dysplasia MPheno.ontology MP:0004896 abnormal endometrium morphology MP:0004896 any structural anomaly of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy MESH:A05.360.319.679.490 https://orcid.org/0000-0003-4606-0597 formation of spongy bone in the bony labyrinth of the ear, especially adjacent to the footplate of the stapes; it may cause bony ankylosis of the stapes, resulting in conductive hearing loss; cochlear otosclerosis results in sensorineural hearing loss MPheno.ontology MP:0004897 otosclerosis MP:0004897 formation of spongy bone in the bony labyrinth of the ear, especially adjacent to the footplate of the stapes; it may cause bony ankylosis of the stapes, resulting in conductive hearing loss; cochlear otosclerosis results in sensorineural hearing loss https://orcid.org/0000-0002-6490-7723 presence of bleeding in the uterus; often in response to failed pregnancy uterine haemorrhage uterus bleeding uterus haemorrhage uterus hemorrhage MPheno.ontology MP:0004898 uterine hemorrhage MP:0004898 presence of bleeding in the uterus; often in response to failed pregnancy MGI:llw2 absence of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault absent squama temporalis absent squamosal bone absent squamous bone absent squamous part of temporal bone absent squamous temporal bone absent temporal squama MPheno.ontology MP:0004899 absent temporal bone squamous part MP:0004899 absence of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault https://orcid.org/0000-0002-6490-7723 absence of the bony arch that extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone MPheno.ontology MP:0004900 absent zygomatic arch MP:0004900 absence of the bony arch that extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone https://orcid.org/0000-0002-6490-7723 reduced numbers of male germ cells whether they are undifferentiated or fully differentiated decreased number of male germ cells reduced male germ cell number MPheno.ontology male germ cell hypoplasia MP:0004901 decreased male germ cell number MP:0004901 reduced numbers of male germ cells whether they are undifferentiated or fully differentiated MGI:llw2 https://orcid.org/0000-0003-4606-0597 anomaly in the size of the female organ of gestation abnormal metra size abnormal metral size abnormal uterine size MPheno.ontology MP:0004902 abnormal uterus size MP:0004902 anomaly in the size of the female organ of gestation https://orcid.org/0000-0003-3691-0324 anomaly in the weight of the female organ of gestation abnormal metral weight abnormal uterine weight MPheno.ontology abnormal metra weight MP:0004903 abnormal uterus weight MP:0004903 anomaly in the weight of the female organ of gestation https://orcid.org/0000-0003-3691-0324 increase in the weight of the female organ of gestation increased metra weight increased metral weight increased uterine weight MPheno.ontology MP:0004904 increased uterus weight MP:0004904 increase in the weight of the female organ of gestation https://orcid.org/0000-0003-3691-0324 reduction in the weight of the female organ of gestation decreased metra weight decreased metral weight decreased uterine weight reduced uterine weight reduced uterus weight MPheno.ontology MP:0004905 decreased uterus weight MP:0004905 reduction in the weight of the female organ of gestation https://orcid.org/0000-0003-3691-0324 increased size of the female muscular organ of gestation enlarged metra increased uterine size increased uterus size MPheno.ontology MP:0004906 enlarged uterus MP:0004906 increased size of the female muscular organ of gestation https://orcid.org/0000-0003-3691-0324 anomaly in the size of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens abnormal seminal gland size MPheno.ontology MP:0004907 abnormal seminal vesicle size MP:0004907 anomaly in the size of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens https://orcid.org/0000-0003-3691-0324 anomaly in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens abnormal seminal gland weight MPheno.ontology MP:0004908 abnormal seminal vesicle weight MP:0004908 anomaly in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens https://orcid.org/0000-0003-3691-0324 increase in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens increased seminal gland weight MPheno.ontology MP:0004909 increased seminal vesicle weight MP:0004909 increase in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens https://orcid.org/0000-0003-3691-0324 reduction in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens decreased seminal gland weight reduced seminal gland weight reduced seminal vesicle weight MPheno.ontology MP:0004910 decreased seminal vesicle weight MP:0004910 reduction in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens https://orcid.org/0000-0003-3691-0324 absence of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint MPheno.ontology MP:0004911 absent mandibular condyloid process MP:0004911 absence of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint https://orcid.org/0000-0003-3691-0324 absence of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion) MPheno.ontology MP:0004912 absent mandibular coronoid process MP:0004912 absence of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion) https://orcid.org/0000-0003-3691-0324 absence of the portion of the mandible where the body of the mandible (horizontal portion) and the rami (perpendicular portions) meet; these normally unite nearly at right angles absent gonial angle absent mandible angular process missing angular process of the mandible MPheno.ontology MP:0004913 absent mandibular angle MP:0004913 absence of the portion of the mandible where the body of the mandible (horizontal portion) and the rami (perpendicular portions) meet; these normally unite nearly at right angles https://orcid.org/0000-0003-3691-0324 absence of the outpocketing of the caudal-most branchial pouch of the embryo (interpreted as a fifth pouch in human or as the ventral component of the fourth pouch in mouse) that fuses with the thyroid diverticulum, ultimately giving rise to calcitonin-producing parafollicular cells (aka C-cells) which function in calcium homeostasis; in most mammals, these parafollicular cells fully disperse with the endodermally derived follicular cells of the thyroid by birth absent corpus ultimopharyngeum absent postbranchial body absent telobranchial body absent telopharyngeal body absent ultimobranchial gland absent ultimopharyngeal body absent ultimopharyngeal gland MPheno.ontology MP:0004914 absent ultimobranchial body MP:0004914 absence of the outpocketing of the caudal-most branchial pouch of the embryo (interpreted as a fifth pouch in human or as the ventral component of the fourth pouch in mouse) that fuses with the thyroid diverticulum, ultimately giving rise to calcitonin-producing parafollicular cells (aka C-cells) which function in calcium homeostasis; in most mammals, these parafollicular cells fully disperse with the endodermally derived follicular cells of the thyroid by birth PMID:20144910 any structural anomaly of the cartilage found in the mesenchyme of the second pharyngeal arch in the embryo from which develop the stapes, styloid process, lesser horn and upper part of the body of the hyoid bone; its proximal end gives rise to the stylohyoid ligament abnormal Reichert cartilage morphology abnormal Reicherts cartilage morphology abnormal hyoid cartilage morphology abnormal second pharyngeal arch cartilage morphology MPheno.ontology MP:0004915 abnormal Reichert's cartilage morphology MP:0004915 any structural anomaly of the cartilage found in the mesenchyme of the second pharyngeal arch in the embryo from which develop the stapes, styloid process, lesser horn and upper part of the body of the hyoid bone; its proximal end gives rise to the stylohyoid ligament https://orcid.org/0000-0002-6490-7723 absence of the cartilage normally found in the mesenchyme of the second branchial arch in the embryo, from which develop the stapes, the styloid processes, the stylohyoid ligaments, and the lesser cornua of the hyoid bone absent Reicherts cartilage MPheno.ontology absent hyoid cartilage absent second pharyngeal arch cartilage MP:0004916 absent Reichert cartilage MP:0004916 absence of the cartilage normally found in the mesenchyme of the second branchial arch in the embryo, from which develop the stapes, the styloid processes, the stylohyoid ligaments, and the lesser cornua of the hyoid bone https://orcid.org/0000-0002-6490-7723 any anomaly in the process through which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation MPheno.ontology MP:0004917 abnormal T cell selection MP:0004917 any anomaly in the process through which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation GO:0045058 any anomaly in the process of elimination of immature T cells which react strongly with self-antigens MPheno.ontology MP:0004918 abnormal negative T cell selection MP:0004918 any anomaly in the process of elimination of immature T cells which react strongly with self-antigens GO:0043383 any anomaly in the process of sparing immature T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death MPheno.ontology MP:0004919 abnormal positive T cell selection MP:0004919 any anomaly in the process of sparing immature T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death GO:0043368 increase in the weight of the organ of metabolic interchange between fetus and mother MPheno.ontology MP:0004920 increased placenta weight MP:0004920 increase in the weight of the organ of metabolic interchange between fetus and mother https://orcid.org/0000-0003-3691-0324 reduction in the weight of the organ of metabolic interchange between fetus and mother reduced placenta weight MPheno.ontology MP:0004921 decreased placenta weight MP:0004921 reduction in the weight of the organ of metabolic interchange between fetus and mother https://orcid.org/0000-0003-3691-0324 any structural anomaly in the united, nonampullary ends of the superior and posterior semicircular ducts of the inner ear abnormal common crus of semicircular ducts abnormal common membranous limb of membranous semicircular ducts abnormal crus membranaceum commune ductuum semicircularium MPheno.ontology MP:0004922 abnormal common crus morphology MP:0004922 any structural anomaly in the united, nonampullary ends of the superior and posterior semicircular ducts of the inner ear https://orcid.org/0000-0002-6490-7723 absence of the united, nonampullary ends of the superior and posterior semicircular ducts in the inner ear absent common crus of semicircular ducts absent common membranous limb of membranous semicircular ducts absent crus membranaceum commune ductuum semicircularium MPheno.ontology MP:0004923 absent common crus MP:0004923 absence of the united, nonampullary ends of the superior and posterior semicircular ducts in the inner ear https://orcid.org/0000-0002-6490-7723 any anomaly in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls abnormal behaviour MPheno.ontology abnormal general behavior abnormal general behaviour MP:0004924 abnormal behavior MP:0004924 any anomaly in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls https://orcid.org/0000-0003-3691-0324 less than normal reduction in hearing sensitivity following exposure to acute noise that is injurious to the cochlea increased resistance to noise-induced hearing loss reduced susceptibility to noise-induced hearing loss MPheno.ontology MP:0004925 decreased susceptibility to noise-induced hearing loss MP:0004925 less than normal reduction in hearing sensitivity following exposure to acute noise that is injurious to the cochlea https://orcid.org/0000-0002-6490-7723 anomaly in the size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens MPheno.ontology MP:0004926 abnormal epididymis size MP:0004926 anomaly in the size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens https://orcid.org/0000-0003-3691-0324 anomaly in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens MPheno.ontology MP:0004927 abnormal epididymis weight MP:0004927 anomaly in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens https://orcid.org/0000-0003-3691-0324 increase in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens MPheno.ontology MP:0004928 increased epididymis weight MP:0004928 increase in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens https://orcid.org/0000-0003-3691-0324 reduction in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens reduced epididymis weight MPheno.ontology MP:0004929 decreased epididymis weight MP:0004929 reduction in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens https://orcid.org/0000-0003-3691-0324 decrease in the average size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens decreased epididymis size MPheno.ontology MP:0004930 small epididymis MP:0004930 decrease in the average size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens https://orcid.org/0000-0003-3691-0324 increase in the average size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens increased epididymis size MPheno.ontology MP:0004931 enlarged epididymis MP:0004931 increase in the average size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the epididymis, typically resulting in decreased size hypoplastic epididymis MPheno.ontology MP:0004932 epididymis hypoplasia MP:0004932 decrease in the number of normal cells in normal arrangement in the epididymis, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 any structural anomaly of the layer of secretory cells which lines the epididymis MPheno.ontology MP:0004933 abnormal epididymis epithelium morphology MP:0004933 any structural anomaly of the layer of secretory cells which lines the epididymis https://orcid.org/0000-0003-3691-0324 pathological deterioration of the layer of secretory cells which lines the epididymis epididymis epithelial degeneration MPheno.ontology MP:0004934 epididymis epithelium degeneration MP:0004934 pathological deterioration of the layer of secretory cells which lines the epididymis https://orcid.org/0000-0003-3691-0324 pathological deterioration of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens epididymal degeneration MPheno.ontology MP:0004935 epididymis degeneration MP:0004935 pathological deterioration of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens https://orcid.org/0000-0003-3691-0324 partial or complete failure of the ureteric bud to repeatedly divide into lobules during development of the kidney impaired ureteric bud branching morphogenesis MPheno.ontology MP:0004936 impaired branching involved in ureteric bud morphogenesis MP:0004936 partial or complete failure of the ureteric bud to repeatedly divide into lobules during development of the kidney https://orcid.org/0000-0003-3691-0324 stretched or widened aperture of one or more of the luminal spaces of the heart, usually with an increase in contained fluid cardiac dilation dilated hearts heart dilation MPheno.ontology MP:0004937 dilated heart MP:0004937 stretched or widened aperture of one or more of the luminal spaces of the heart, usually with an increase in contained fluid https://orcid.org/0000-0003-3691-0324 stretched or widened aperture of the luminal space of one or more of the blood vessels blood vessel dilation dilated blood vessel dilated blood vessels vasculature dilation MPheno.ontology MP:0004938 dilated vasculature MP:0004938 stretched or widened aperture of the luminal space of one or more of the blood vessels https://orcid.org/0000-0003-3691-0324 any structural anomaly of lymphocytes that expresses membrane-bound immunoglobulin complexes in the mature form, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens abnormal B lymphocyte morphology abnormal B-cell morphology MPheno.ontology MP:0004939 abnormal B cell morphology MP:0004939 any structural anomaly of lymphocytes that expresses membrane-bound immunoglobulin complexes in the mature form, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens CL:0000236 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and are enriched for self-reactivity; B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas abnormal B-1 B lymphocyte morphology abnormal B-1 B-cell morphology abnormal B-1 B-lymphocyte morphology abnormal B1 cell morphology MPheno.ontology MP:0004940 abnormal B-1 B cell morphology MP:0004940 any structural anomaly of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and are enriched for self-reactivity; B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas CL:0000819 PMID:11861604 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity; these may include T cells that express the CD8 transmembrane glycoprotein (CD8-positive T cells), those that express CD4 and CD25 (CD4-positive, CD25-positive regulatory T cells or Tregs) and other T cell types that have suppressor function MP:0002437 CL:0000815 abnormal regulatory T lymphocyte morphology abnormal regulatory T-cell morphology abnormal regulatory T-lymphocyte abnormal suppressor T cell morphology abnormal suppressor T cell morphology/development abnormal suppressor T lymphocyte morphology abnormal suppressor T-cell morphology abnormal suppressor T-lymphocyte morphology suppressor T cell abnormalities suppressor T-cell abnormalities abnormal Treg cell morphology MPheno.ontology MP:0004941 abnormal regulatory T cell morphology MP:0004941 any structural anomaly of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity; these may include T cells that express the CD8 transmembrane glycoprotein (CD8-positive T cells), those that express CD4 and CD25 (CD4-positive, CD25-positive regulatory T cells or Tregs) and other T cell types that have suppressor function https://orcid.org/0000-0003-3691-0324 anomaly in the process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival GO:0002339 MPheno.ontology MP:0004942 abnormal B cell selection MP:0004942 anomaly in the process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival GO:0002339 any anomaly in the process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival GO:0002346 MPheno.ontology MP:0004943 abnormal B cell positive selection MP:0004943 any anomaly in the process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival https://orcid.org/0000-0003-3691-0324 any anomaly in the process through which B cells which react strongly with self-antigens are eliminated, usually through anergy or deletion GO:0002352 MPheno.ontology MP:0004944 abnormal B cell negative selection MP:0004944 any anomaly in the process through which B cells which react strongly with self-antigens are eliminated, usually through anergy or deletion https://orcid.org/0000-0003-3691-0324 anomaly in the process of degrading the organic and inorganic phases of bone by absorption, usually by the abnormal function or by absence of osteoclasts MPheno.ontology MP:0004945 abnormal bone resorption MP:0004945 anomaly in the process of degrading the organic and inorganic phases of bone by absorption, usually by the abnormal function or by absence of osteoclasts https://orcid.org/0000-0003-3691-0324 any functional anomaly of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity; these may include T cells that express the CD8 transmembrane glycoprotein (CD8-positive T cells), those that express CD4 and CD25 (CD4-positive, CD25-positive regulatory T cells or Tregs) and other T cell types that have suppressor function MPheno.ontology MP:0004946 abnormal regulatory T cell physiology MP:0004946 any functional anomaly of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity; these may include T cells that express the CD8 transmembrane glycoprotein (CD8-positive T cells), those that express CD4 and CD25 (CD4-positive, CD25-positive regulatory T cells or Tregs) and other T cell types that have suppressor function https://orcid.org/0000-0003-3691-0324 local accumulation of fluid, plasma proteins, and leukocytes in the skin rubor MPheno.ontology MP:0004947 skin inflammation MP:0004947 local accumulation of fluid, plasma proteins, and leukocytes in the skin https://orcid.org/0000-0003-3691-0324 any anomaly in the ability of a neuroblast population to undergo rapid expansion by cell division abnormal neuroblast proliferation abnormal neuronal progenitor proliferation MPheno.ontology MP:0004948 abnormal neuronal precursor proliferation MP:0004948 any anomaly in the ability of a neuroblast population to undergo rapid expansion by cell division https://orcid.org/0000-0003-3691-0324 absence of the neuroblast embryonic cells that develop into nerve cells or neurons absent NPCs absent neuroblast cells absent neuronal progenitor cells MPheno.ontology MP:0004949 absent neuronal precursor cells MP:0004949 absence of the neuroblast embryonic cells that develop into nerve cells or neurons https://orcid.org/0000-0003-3691-0324 any structural anomaly of the blood vessel network of the brain MPheno.ontology MP:0004950 abnormal brain vasculature morphology MP:0004950 any structural anomaly of the blood vessel network of the brain https://orcid.org/0000-0003-3691-0324 anomaly in the average weight of the organ that functions to filter blood and to store red corpuscles and platelets abnormal splenic weight MPheno.ontology MP:0004951 abnormal spleen weight MP:0004951 anomaly in the average weight of the organ that functions to filter blood and to store red corpuscles and platelets https://orcid.org/0000-0003-3691-0324 greater than average weight of the organ that functions to filter blood and to store red corpuscles and platelets increased splenic weight MPheno.ontology MP:0004952 increased spleen weight MP:0004952 greater than average weight of the organ that functions to filter blood and to store red corpuscles and platelets https://orcid.org/0000-0003-3691-0324 reduction in the average weight of the organ that functions to filter blood and to store red corpuscles and platelets reduced spleen weight MPheno.ontology decreased splenic weight MP:0004953 decreased spleen weight MP:0004953 reduction in the average weight of the organ that functions to filter blood and to store red corpuscles and platelets https://orcid.org/0000-0003-3691-0324 anomaly in the average weight of the primary lymphoid organ that is required for maturation of T cells MPheno.ontology MP:0004954 abnormal thymus weight MP:0004954 anomaly in the average weight of the primary lymphoid organ that is required for maturation of T cells https://orcid.org/0000-0003-3691-0324 greater than average weight of the primary lymphoid organ that is required for maturation of T cells MPheno.ontology MP:0004955 increased thymus weight MP:0004955 greater than average weight of the primary lymphoid organ that is required for maturation of T cells https://orcid.org/0000-0003-3691-0324 reduction in the average weight of the primary lymphoid organ that is required for maturation of T cells reduced thymus weight MPheno.ontology MP:0004956 decreased thymus weight MP:0004956 reduction in the average weight of the primary lymphoid organ that is required for maturation of T cells https://orcid.org/0000-0003-3691-0324 any structural anomaly of the preimplantation embryo of mammals consisting of a hollow sphere of cells with an outer cell layer (trophoblast) that forms the placenta, a fluid-filled cavity (blastocoele), and a cluster of cells on the interior (the inner cell mass) that forms the embryo MPheno.ontology MP:0004957 abnormal blastocyst morphology MP:0004957 any structural anomaly of the preimplantation embryo of mammals consisting of a hollow sphere of cells with an outer cell layer (trophoblast) that forms the placenta, a fluid-filled cavity (blastocoele), and a cluster of cells on the interior (the inner cell mass) that forms the embryo https://orcid.org/0000-0003-3691-0324 increased size of the gland in males that secretes part of the seminiferous fluid increased prostate gland size MPheno.ontology MP:0004958 enlarged prostate gland MP:0004958 increased size of the gland in males that secretes part of the seminiferous fluid https://orcid.org/0000-0003-3691-0324 anomaly in the average size of the gland in males that secretes part of the seminiferous fluid abnormal prostate size MPheno.ontology MP:0004959 abnormal prostate gland size MP:0004959 anomaly in the average size of the gland in males that secretes part of the seminiferous fluid https://orcid.org/0000-0003-3691-0324 anomaly in the average weight of the gland in males that secretes part of the seminiferous fluid MPheno.ontology abnormal prostate weight MP:0004960 abnormal prostate gland weight MP:0004960 anomaly in the average weight of the gland in males that secretes part of the seminiferous fluid https://orcid.org/0000-0003-3691-0324 greater than average weight of the gland in males that secretes part of the seminiferous fluid increased prostate weight MPheno.ontology MP:0004961 increased prostate gland weight MP:0004961 greater than average weight of the gland in males that secretes part of the seminiferous fluid https://orcid.org/0000-0003-3691-0324 reduction in the average weight of the gland in males that secretes part of the seminiferous fluid reduced prostate weight MPheno.ontology decreased prostate weight MP:0004962 decreased prostate gland weight MP:0004962 reduction in the average weight of the gland in males that secretes part of the seminiferous fluid https://orcid.org/0000-0003-3691-0324 any structural anomaly the fluid-filled cavity of the blastocyst of the preimplantation embryo of mammals abnormal blastocoel cavity MPheno.ontology MP:0004963 abnormal blastocoele morphology MP:0004963 any structural anomaly the fluid-filled cavity of the blastocyst of the preimplantation embryo of mammals https://orcid.org/0000-0003-3691-0324 absence of the cells of the blastocyst that develop into the body of the embryo MPheno.ontology MP:0004964 absent inner cell mass MP:0004964 absence of the cells of the blastocyst that develop into the body of the embryo https://orcid.org/0000-0003-3691-0324 a retrogressive impairment of function or destruction of the cells of the blastocyst that develop into the body of the embryo MPheno.ontology MP:0004965 inner cell mass degeneration MP:0004965 a retrogressive impairment of function or destruction of the cells of the blastocyst that develop into the body of the embryo https://orcid.org/0000-0003-3691-0324 any anomaly in the ability of the inner cell mass population to undergo rapid expansion by cell division abnormal inner cell mass growth MPheno.ontology MP:0004966 abnormal inner cell mass proliferation MP:0004966 any anomaly in the ability of the inner cell mass population to undergo rapid expansion by cell division https://orcid.org/0000-0003-3691-0324 any structural anomaly of the cellular avascular layer of the kidney luminar surfaces abnormal renal epithelium morphology MPheno.ontology MP:0004967 abnormal kidney epithelium morphology MP:0004967 any structural anomaly of the cellular avascular layer of the kidney luminar surfaces https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the kidney epithelium, typically resulting in increased size hyperplastic renal epithelium renal epithelial hyperplasia renal epithelium hyperplasia MPheno.ontology MP:0004968 kidney epithelium hyperplasia MP:0004968 increase in the number of normal cells in normal arrangement in the kidney epithelium, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 kidney lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition MPheno.ontology MP:0004969 pale kidney MP:0004969 kidney lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition https://orcid.org/0000-0003-3691-0324 acquired diminution of the size of the kidney associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MP:0003013 renal atrophy MPheno.ontology MP:0004970 kidney atrophy MP:0004970 acquired diminution of the size of the kidney associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the dermal layer of the skin, typically resulting in increased thickness excessive skin hyperplastic dermal layer MPheno.ontology MP:0004971 dermal hyperplasia MP:0004971 increase in the number of normal cells in normal arrangement in the dermal layer of the skin, typically resulting in increased thickness https://orcid.org/0000-0003-3691-0324 deviation from the average count of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity abnormal Treg cell number abnormal suppressor T cell number MPheno.ontology MP:0004972 abnormal regulatory T cell number MP:0004972 deviation from the average count of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity https://orcid.org/0000-0003-3691-0324 greater number of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity increased Treg cell number increased suppressor T cell number MPheno.ontology MP:0004973 increased regulatory T cell number MP:0004973 greater number of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity https://orcid.org/0000-0003-3691-0324 reduced number of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity decreased Treg cell number decreased suppressor T cell number reduced Treg cell number reduced regulatory T cell number MPheno.ontology MP:0004974 decreased regulatory T cell number MP:0004974 reduced number of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity https://orcid.org/0000-0003-3691-0324 absence of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity absent suppressor T cells MPheno.ontology absent Treg cells MP:0004975 absent regulatory T cells MP:0004975 absence of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity https://orcid.org/0000-0003-3691-0324 deviation from the normal count of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity abnormal B1 cell number MPheno.ontology MP:0004976 abnormal B-1 B cell number MP:0004976 deviation from the normal count of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity https://orcid.org/0000-0003-3691-0324 greater number of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity increased B1 cell number MPheno.ontology MP:0004977 increased B-1 B cell number MP:0004977 greater number of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity https://orcid.org/0000-0003-3691-0324 reduced number of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity decreased B1 cell number reduced B-1 B cell number MPheno.ontology MP:0004978 decreased B-1 B cell number MP:0004978 reduced number of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity https://orcid.org/0000-0003-3691-0324 deviation from the normal count of the neuroblast embryonic cells that develop into nerve cells or neurons abnormal NPC number abnormal neuroblast cell number abnormal number of neural progenitor cells MPheno.ontology MP:0004979 abnormal neuronal precursor cell number MP:0004979 deviation from the normal count of the neuroblast embryonic cells that develop into nerve cells or neurons https://orcid.org/0000-0003-3691-0324 increased number of the neuroblast embryonic cells that develop into nerve cells or neurons expansion of neuronal precursor cells increased NPC number increased number of neuronal precursor cells MPheno.ontology MP:0004980 increased neuronal precursor cell number MP:0004980 increased number of the neuroblast embryonic cells that develop into nerve cells or neurons https://orcid.org/0000-0003-3691-0324 reduced number of the neuroblast embryonic cells that develop into nerve cells or neurons decreased NPC number reduced NPC number reduced number of neuronal precursor cells MPheno.ontology MP:0004981 decreased neuronal precursor cell number MP:0004981 reduced number of the neuroblast embryonic cells that develop into nerve cells or neurons https://orcid.org/0000-0003-3691-0324 any structural anomaly of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue abnormal osteophage morphology MPheno.ontology abnormal chondroclast morphology MP:0004982 abnormal osteoclast morphology MP:0004982 any structural anomaly of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue CL:0000092 deviation from the average number of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue MPheno.ontology abnormal chondroclast cell number MP:0004983 abnormal osteoclast cell number MP:0004983 deviation from the average number of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue CL:0000092 https://orcid.org/0000-0003-3691-0324 greater than average number of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue MPheno.ontology increased chondroclast cell number MP:0004984 increased osteoclast cell number MP:0004984 greater than average number of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue CL:0000092 reduced number of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue reduced osteoclast cell number MPheno.ontology decreased chondroclast cell number reduced chondroclast cell number MP:0004985 decreased osteoclast cell number MP:0004985 reduced number of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue CL:0000092 any structural anomaly of a skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell MPheno.ontology MP:0004986 abnormal osteoblast morphology MP:0004986 any structural anomaly of a skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell CL:0000062 deviation from the average number of the skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell MPheno.ontology MP:0004987 abnormal osteoblast cell number MP:0004987 deviation from the average number of the skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell CL:0000062 greater than average number of skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell MP:0002744 increased osteoblast formation MPheno.ontology MP:0004988 increased osteoblast cell number MP:0004988 greater than average number of skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell CL:0000062 reduction in the number of skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell MP:0000058 decreased osteoblast formation reduced osteoblast cell number reduced osteoblast formation MPheno.ontology MP:0004989 decreased osteoblast cell number MP:0004989 reduction in the number of skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell CL:0000062 any structural anomaly of the parasympathetic ganglia in the orbit behind the eye that receives preganglionic innervation through the oculomotor nerve abnormal Schacher ganglion abnormal ciliary ganglia morphology abnormal lenticular ganglion morphology MPheno.ontology MP:0004990 abnormal ciliary ganglion morphology MP:0004990 any structural anomaly of the parasympathetic ganglia in the orbit behind the eye that receives preganglionic innervation through the oculomotor nerve https://orcid.org/0009-0005-7755-8314 reduced ability of bone to endure the application of force without yielding or breaking reduced bone strength MPheno.ontology MP:0004991 decreased bone strength MP:0004991 reduced ability of bone to endure the application of force without yielding or breaking https://orcid.org/0000-0003-3691-0324 greater than average amount of degradation of the organic and inorganic phases of bone by absorption, usually by the abnormal function or number of osteoclasts MPheno.ontology MP:0004992 increased bone resorption MP:0004992 greater than average amount of degradation of the organic and inorganic phases of bone by absorption, usually by the abnormal function or number of osteoclasts https://orcid.org/0000-0003-3691-0324 reduced amount of degradation of the organic and inorganic phases of bone by absorption, usually by the abnormal function or number of osteoclasts reduced bone resorption MPheno.ontology MP:0004993 decreased bone resorption MP:0004993 reduced amount of degradation of the organic and inorganic phases of bone by absorption, usually by the abnormal function or number of osteoclasts https://orcid.org/0000-0003-3691-0324 any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG); the pattern is often measured to diagnose neurological conditions such as seizure disorders (epilepsy) abnormal ECoG pattern abnormal EEG pattern abnormal electrocorticogram pattern MPheno.ontology MP:0004994 abnormal brain wave pattern MP:0004994 any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG); the pattern is often measured to diagnose neurological conditions such as seizure disorders (epilepsy) https://orcid.org/0000-0003-3691-0324 a defect in the process of removal by apoptosis of immature B lymphocytes that interact with self antigens during maturation MPheno.ontology MP:0004995 abnormal B cell clonal deletion MP:0004995 a defect in the process of removal by apoptosis of immature B lymphocytes that interact with self antigens during maturation MGI:acv any anomaly in the process of generating the initial connections between an axon and effector tissue or neuron MPheno.ontology MP:0004996 abnormal CNS synapse formation MP:0004996 any anomaly in the process of generating the initial connections between an axon and effector tissue or neuron https://orcid.org/0000-0003-3691-0324 greater frequency of the process of generating the initial connections between an axon and effector tissue or neuron MPheno.ontology MP:0004997 increased CNS synapse formation MP:0004997 greater frequency of the process of generating the initial connections between an axon and effector tissue or neuron https://orcid.org/0000-0003-3691-0324 a reduction in the frequency of the process of generating the initial connections between an axon and effector tissue or neuron reduced CNS synapse formation MPheno.ontology MP:0004998 decreased CNS synapse formation MP:0004998 a reduction in the frequency of the process of generating the initial connections between an axon and effector tissue or neuron https://orcid.org/0000-0003-3691-0324 anomaly in the function of the group of barriers and transport systems which regulate the transport of various substances from blood to inner ear tissue and maintain the microhomeostasis and functional integrity of the inner ear; the endothelial cells of the inner ear blood capillaries, linked to each other by tight junctions, represent the main component of the blood-inner ear barrier MPheno.ontology MP:0004999 abnormal blood-inner ear barrier function MP:0004999 anomaly in the function of the group of barriers and transport systems which regulate the transport of various substances from blood to inner ear tissue and maintain the microhomeostasis and functional integrity of the inner ear; the endothelial cells of the inner ear blood capillaries, linked to each other by tight junctions, represent the main component of the blood-inner ear barrier https://orcid.org/0000-0002-6490-7723 anomaly in the process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it MPheno.ontology MP:0005000 abnormal immune tolerance MP:0005000 anomaly in the process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it GO:0002507 https://orcid.org/0000-0003-3691-0324 a defect in the process of removal of immature lymphocytes that interact with self antigens during maturation clonal deletion abnormalities MPheno.ontology MP:0005001 abnormal clonal deletion MP:0005001 a defect in the process of removal of immature lymphocytes that interact with self antigens during maturation ISBN:0-8153-1691-7 MGI:cwg a defect in the process of removal of immature T lymphocytes that interact with self antigens during maturation T cell clonal deletion abnormalities T lymphocyte clonal deletion abnormalities T-cell clonal deletion abnormalities MPheno.ontology MP:0005002 abnormal T cell clonal deletion MP:0005002 a defect in the process of removal of immature T lymphocytes that interact with self antigens during maturation ISBN:0-8153-1691-7 OBSOLETE. a defect in the process of removal of immature B lymphocytes that interact with self antigens during maturation B lymphocyte clonal deletion abnormalities B-cell clonal deletion abnormalities MPheno.ontology MP:0005003 obsolete B cell clonal deletion abnormalities true MP:0005003 OBSOLETE. a defect in the process of removal of immature B lymphocytes that interact with self antigens during maturation ISBN:0-8153-1691-7 anomaly in the process of establishing a state of functional inactivation of self-reactive lymphocytes abnormal anergy abnormal clonal anergy MPheno.ontology MP:0005004 abnormal lymphocyte anergy MP:0005004 anomaly in the process of establishing a state of functional inactivation of self-reactive lymphocytes GO:0002249 https://orcid.org/0000-0003-3691-0324 a defect in the normal lack of response to autologous (self) antigens self tolerance abnormalities MPheno.ontology MP:0005005 abnormal self tolerance MP:0005005 a defect in the normal lack of response to autologous (self) antigens ISBN:0-8153-1691-7 MGI:cwg any functional anomaly of a skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell MPheno.ontology MP:0005006 abnormal osteoblast physiology MP:0005006 any functional anomaly of a skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell CL:0000062 true MP:0005007 true MP:0005008 OBSOLETE. malformations of the bones/skeleton existing at birth MPheno.ontology MP:0005009 obsolete congenital skeletal deformities true MP:0005009 OBSOLETE. malformations of the bones/skeleton existing at birth ISBN:0-683-40008-8 any structural anomaly of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions abnormal single positive T cell morphology CD8+ T cell abnormalities CD8+ T-cell abnormalities abnormal CD8+ T cell morphology abnormal CD8-positive T cell morphology MPheno.ontology MP:0005010 Generally, when immunologists write CD8 positive T cell, what they mean is CD8-positive, alpha-beta T cell (CL:0000625). Similarly, when immunologists write CD4 positive T cell, what they mean is CD4-positive, alpha-beta T cell (CL:0000624). T cells bearing the alpha-beta T cell receptor are the most common in the body, and are the most commonly studied, so much so, that in many published papers, the authors do not even bother to specify (or assume) they are studying alpha-beta T cells and thus omit saying so. abnormal CD8-positive, alpha beta T cell morphology MP:0005010 any structural anomaly of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions MESH:A11.118.637.555.567.569.220 greater than normal eosinophil numbers increased eosinophil count increased eosinophil number eosinophilia MPheno.ontology MP:0005011 increased eosinophil cell number MP:0005011 greater than normal eosinophil numbers MGI:cwg fewer than normal eosinophil numbers decreased eosinophil count decreased eosinophil number reduced eosinophil cell number MPheno.ontology MP:0005012 decreased eosinophil cell number MP:0005012 fewer than normal eosinophil numbers MGI:cwg greater than normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells MP:0000323 MP:0000718 MP:0000720 increased immune cell number increased lymphocyte count lymphocytosis MPheno.ontology MP:0005013 increased lymphocyte cell number MP:0005013 greater than normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells MGI:cwg https://orcid.org/0000-0003-3691-0324 greater than normal number of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity increased B cell count increased B lymphocyte count increased B lymphocyte number increased B-cell count MPheno.ontology MP:0005014 increased B cell number MP:0005014 greater than normal number of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity ISBN:0803606559 https://orcid.org/0000-0003-4606-0597 greater than normal T cell numbers increased T cell count increased T-cell count MPheno.ontology MP:0005015 increased T cell number MP:0005015 greater than normal T cell numbers MGI:cwg fewer than normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells MP:0000335 MP:0000722 MP:0000724 decreased immune cell number decreased lymphocyte count reduced lymphocyte cell number reduced lymphocyte count lymphopenia MPheno.ontology MP:0005016 decreased lymphocyte cell number MP:0005016 fewer than normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells MGI:cwg https://orcid.org/0000-0003-3691-0324 fewer than normal number of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity decreased B cell count decreased B lymphocyte count decreased B-cell count reduced B cell number reduced B lymphocyte count MPheno.ontology MP:0005017 decreased B cell number MP:0005017 fewer than normal number of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity ISBN:0803606559 https://orcid.org/0000-0003-4606-0597 fewer than normal T cell numbers decreased T cell count decreased T-cell count decreased T-cell number reduced T cell number reduced T lymphocyte number reduced T-cell count reduced T-cell number reduced T-lymphocyte number MPheno.ontology MP:0005018 decreased T cell number MP:0005018 fewer than normal T cell numbers MGI:cwg any structural anomaly of cells in the B lymphocyte lineage that undergo D-J rearrangement of the immunoglobulin heavy chain early pro-B cell abnormalities early pro-B-cell abnormalities MPheno.ontology MP:0005019 These cells express no surface Ig; cell surface markers for these cells are: CD45R, MHC class II, CD19, CD38, CD40. abnormal early pro-B cell MP:0005019 any structural anomaly of cells in the B lymphocyte lineage that undergo D-J rearrangement of the immunoglobulin heavy chain ISBN:0-8153-1691-7 MGI:cwg any structural anomaly of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain late pro-B cell abnormalities late pro-B-cell abnormalities MPheno.ontology MP:0005020 These cells express no surface Ig; cell surface markers for these cells are: CD45R, MHC class II, CD19, CD38, CD40. abnormal late pro-B cell MP:0005020 any structural anomaly of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain ISBN:0-8153-1691-7 MGI:cwg OBSOLETE. MPheno.ontology MP:0005021 obsolete B lymphoblast abnormalities true MP:0005021 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity immature B cell abnormalities immature B lymphocyte abnormalities immature B-cell abnormalities MPheno.ontology MP:0005022 These cells express IgM on their surface, in addition to CD45R, MHC class II, CD19, CD20, CD21, CD40. abnormal immature B cell morphology MP:0005022 any structural anomaly of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity ISBN:0-8153-1691-7 MGI:cwg aberrant process of repair of trauma to any tissues of the body, especially that caused by physical means MPheno.ontology MP:0005023 abnormal wound healing MP:0005023 aberrant process of repair of trauma to any tissues of the body, especially that caused by physical means ISBN:0-683-40008-8 MGI:cwg true MP:0005024 any anomaly in the body's reaction to invasion and multiplication of microorganisms in its tissues, or the body's reaction to components of or toxins produced by pathogenic microorganisms MPheno.ontology MP:0005025 abnormal response to infection MP:0005025 any anomaly in the body's reaction to invasion and multiplication of microorganisms in its tissues, or the body's reaction to components of or toxins produced by pathogenic microorganisms MGI:cwg reduced likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by parasites decreased susceptibility to parasite infection increased resistance to parasitic infection reduced susceptibility to parasitic infection MPheno.ontology MP:0005026 decreased susceptibility to parasitic infection MP:0005026 reduced likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by parasites MGI:cwg greater likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by parasites decreased resistance to parasitic infection increased susceptibility to parasite infection MPheno.ontology MP:0005027 increased susceptibility to parasitic infection MP:0005027 greater likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by parasites MGI:cwg any structural anomaly outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition MPheno.ontology MP:0005028 abnormal trophectoderm morphology MP:0005028 any structural anomaly outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition ISBN:0-683-40008-8 MGI:dlb any structural anomaly of the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected MPheno.ontology MP:0005029 abnormal amnion morphology MP:0005029 any structural anomaly of the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected https://orcid.org/0000-0003-3691-0324 absence of the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected absence of amnion MPheno.ontology MP:0005030 absent amnion MP:0005030 absence of the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected https://orcid.org/0000-0003-3691-0324 any structural anomaly of the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta MPheno.ontology abnormal trophoblast MP:0005031 abnormal trophoblast layer morphology MP:0005031 any structural anomaly of the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta ISBN:0-683-40008-8 any structural anomaly of the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta abnormal epamniotic cone MPheno.ontology MP:0005032 abnormal ectoplacental cone morphology MP:0005032 any structural anomaly of the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta MGI:cwg anomaly of the cells covering the blastocyst that erode the uterine mucosa and contribute to the formation of the placenta abnormal trophoblast giant cells MPheno.ontology MP:0005033 abnormal trophoblast giant cell morphology MP:0005033 anomaly of the cells covering the blastocyst that erode the uterine mucosa and contribute to the formation of the placenta ISBN:0-683-40008-8 MGI:dlb any structural anomaly of the lower opening of the digestive tract anus abnormalities abnormal anal opening morphology abnormal anal orifice morphology abnormal opening of terminal part of digestive tract morphology anus dysplasia MPheno.ontology MP:0005034 abnormal anus morphology MP:0005034 any structural anomaly of the lower opening of the digestive tract ISBN:0-683-40008-8 lesion around or near the anus perianal ulceration MPheno.ontology MP:0005035 perianal ulcer MP:0005035 lesion around or near the anus MGI:cml abnormally frequent discharge of semi-solid or fluid fecal matter from the bowel diarrhoea MPheno.ontology MP:0005036 diarrhea MP:0005036 abnormally frequent discharge of semi-solid or fluid fecal matter from the bowel ISBN:0-683-40008-8 presence of considerable mucous in the stools anal mucous discharge mucoid diarrhea mucous diarrhoea MPheno.ontology MP:0005037 mucous diarrhea MP:0005037 presence of considerable mucous in the stools ISBN:0-683-40008-8 true MP:0005038 reduced oxygenation of body tissues resulting in the decreased pressure of this component of body gases; commonly due to hypoxemia decreased tissue partial O2 level MPheno.ontology MP:0005039 hypoxia MP:0005039 reduced oxygenation of body tissues resulting in the decreased pressure of this component of body gases; commonly due to hypoxemia ISBN:978-0-387-75246-4 anomaly in the ability of macrophages to express major histocompatibility complex class II at the cell surface MPheno.ontology MP:0005040 abnormal MHC II cell surface expression on macrophages MP:0005040 anomaly in the ability of macrophages to express major histocompatibility complex class II at the cell surface J:31326 MGI:cwg anomaly in the process by which peptide, bound to major histocompatibility complex class II, is presented to lymphocytes at the surface of antigen presenting cells MP:0001843 MPheno.ontology MP:0005041 abnormal antigen presentation via MHC class II MP:0005041 anomaly in the process by which peptide, bound to major histocompatibility complex class II, is presented to lymphocytes at the surface of antigen presenting cells MGI:cwg deviation from the normal concentration of major histocompatibility complex class II molecules expressed at the cell surface MPheno.ontology MP:0005042 Unlike class I, which is expressed by almost all nucleated cells, only B cells, macrophages, other antigen presenting cells (e.g., Langerhans' cells), and epithelial cells of the thymus express MHC class II at their surface. abnormal level of surface class II molecules MP:0005042 deviation from the normal concentration of major histocompatibility complex class II molecules expressed at the cell surface MGI:cwg impaired production of major histocompatibility complex class II molecules MPheno.ontology MP:0005043 defective assembly of class II molecules MP:0005043 impaired production of major histocompatibility complex class II molecules MGI:cwg presence of various pathogenic organisms, or their toxins, in the blood or tissues MPheno.ontology MP:0005044 sepsis MP:0005044 presence of various pathogenic organisms, or their toxins, in the blood or tissues ISBN:0-683-40008-8 true MP:0005045 absence of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies failure of spleen white pulp formation MPheno.ontology absent splenic white pulp MP:0005046 absent spleen white pulp MP:0005046 absence of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies https://orcid.org/0000-0003-3691-0324 increased size of the celiac lymph nodes enlarged coeliac lymph nodes increased celiac lymph node size increased coeliac lymph node size MPheno.ontology MP:0005047 enlarged celiac lymph nodes MP:0005047 increased size of the celiac lymph nodes MGI:cwg any anomaly in the formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements MPheno.ontology MP:0005048 abnormal thrombosis MP:0005048 any anomaly in the formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements ISBN:0-397-51047-0 MGI:cwg OBSOLETE. functional anomaly of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells MP:0003009 MP:0008713 MPheno.ontology MP:0005049 This term is obsolete. Instead, use the terms abnormal cytokine level (MP:0008713) and its children or abnormal cytokine secretion (MP:0003009) and its children. obsolete abnormal cytokine physiology true MP:0005049 OBSOLETE. functional anomaly of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells ISBN:0-8153-1691-7 MGI:cwg OBSOLETE. functional anomaly of any of a subset of interleukins that are involved in attracting leukocytes to a site of tissue injury chemotactic interleukins MPheno.ontology MP:0005050 obsolete abnormal chemotactic interleukin physiology true MP:0005050 OBSOLETE. functional anomaly of any of a subset of interleukins that are involved in attracting leukocytes to a site of tissue injury MGI:cwg OBSOLETE. a reaction that differs from normal to compounds that reversibly depress neuronal function altered sensitivity to anesthetics MPheno.ontology MP:0005051 obsolete altered response to anesthetics true MP:0005051 OBSOLETE. a reaction that differs from normal to compounds that reversibly depress neuronal function MGI:cwg OBSOLETE. MPheno.ontology MP:0005052 obsolete increased sleep after pentobarbital treatment true MP:0005052 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. a reaction to pentobarbital that differs from normal altered sensitivity to pentobarbital MPheno.ontology MP:0005053 obsolete altered response to pentobarbital true MP:0005053 OBSOLETE. a reaction to pentobarbital that differs from normal MGI:cwg OBSOLETE. a reaction to tribromoethanol that differs from normal altered sensitivity to tribromoethanol MPheno.ontology MP:0005054 obsolete altered response to tribromoethanol true MP:0005054 OBSOLETE. a reaction to tribromoethanol that differs from normal MGI:cwg OBSOLETE. a reaction to alphaxalone that differs from controls altered sensitivity to alphaxalone MPheno.ontology MP:0005055 obsolete altered response to alphaxalone true MP:0005055 OBSOLETE. a reaction to alphaxalone that differs from controls MGI:cwg OBSOLETE. MPheno.ontology MP:0005056 obsolete increased sleep after tribromoethanol treatment true MP:0005056 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. MPheno.ontology MP:0005057 obsolete increased sleep after alphaxalone treatment true MP:0005057 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases GO:0005764 abnormal lysosome MPheno.ontology MP:0005058 abnormal lysosome morphology MP:0005058 any structural anomaly of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases ISBN:0-683-40008-8 MGI:cwg buildup of protein in the lysosome GO:0007041 MPheno.ontology MP:0005059 lysosomal protein accumulation MP:0005059 buildup of protein in the lysosome MGI:cwg buildup of contents in lysosomes in cells of the kidney tubules MPheno.ontology MP:0005060 PMID:408 is correct. accumulation of giant lysosomes in kidney/renal tubule cells MP:0005060 buildup of contents in lysosomes in cells of the kidney tubules MGI:cwg PMID:408 any structural anomaly of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions abnormal polymorphonuclear leucocyte morphology abnormal polymorphonuclear leukocyte morphology abnormal eosinocyte morphology abnormal eosinophilic leucocyte morphology abnormal eosinophilic leukocyte morphology eosinophil structural abnormalities MPheno.ontology MP:0005061 abnormal eosinophil morphology MP:0005061 any structural anomaly of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions CL:0000771 ISBN:0721601464 OBSOLETE. MPheno.ontology MP:0005062 obsolete presence of giant granules in eosinophils true MP:0005062 OBSOLETE. https://orcid.org/0000-0003-3691-0324 true MP:0005063 OBSOLETE. MPheno.ontology MP:0005064 obsolete presence of giant granules in lymphocytes true MP:0005064 OBSOLETE. https://orcid.org/0000-0003-3691-0324 any structural anomaly of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes abnormal PMN morphology abnormal polymorphonuclear leucocyte morphology abnormal polymorphonuclear leukocyte morphology abnormal polymorphonuclear neutrophil morphology abnormal polynuclear neutrophilic leucocyte morphology abnormal polynuclear neutrophilic leukocyte morphology abnormal neutrocyte morphology abnormal neutrophil leucocyte morphology abnormal neutrophil leukocyte morphology abnormal neutrophilic leucocyte morphology abnormal neutrophilic leukocyte morphology abnormal polymorphonuclear cell neutrophil structural abnormalities MPheno.ontology MP:0005065 abnormal neutrophil morphology MP:0005065 any structural anomaly of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes CL:0000775 ISBN:0721601464 OBSOLETE. MPheno.ontology MP:0005066 obsolete presence of giant granules in neutrophils true MP:0005066 OBSOLETE. https://orcid.org/0000-0003-3691-0324 OBSOLETE. pigment particles found in retina MPheno.ontology MP:0005067 obsolete presence of melanin granules in retina true MP:0005067 OBSOLETE. pigment particles found in retina https://orcid.org/0000-0003-3691-0324 any structural anomaly of a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells CL:0000623 FMA:63147 FMA:83601 NK cell abnormalities abnormal NK cells abnormal natural killer cell natural killer cell abnormalities MPheno.ontology MP:0005068 abnormal NK cell morphology MP:0005068 any structural anomaly of a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells ISBN:0781735149 PMID:15771571 https://orcid.org/0000-0003-3691-0324 true MP:0005069 impaired ability of directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors impaired killer activity defective NK cell cytolysis defective natural killer cell cytolysis impaired NK cell cytolysis impaired NK cell mediated cell death impaired NK cell mediated cell killing impaired NK cell mediated cytolysis impaired NK cell mediated cytotoxicity impaired natural killer cell mediated cell death impaired natural killer cell mediated cell killing impaired natural killer cell mediated cytolysis impaired natural killer-cell mediated cytolysis MPheno.ontology MP:0005070 impaired natural killer cell mediated cytotoxicity MP:0005070 impaired ability of directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors GO:0042267 ISBN:0-683-40008-8 increased size of the pigment particles located in the hair follicle increased hair follicle melanin granule size MPheno.ontology MP:0005071 enlarged hair follicle melanin granules MP:0005071 increased size of the pigment particles located in the hair follicle MGI:llw2 any structural anomaly of the pigment particles in the hair follicles hair follicle melanin granule abnormalities MPheno.ontology MP:0005072 abnormal hair follicle melanin granule morphology MP:0005072 any structural anomaly of the pigment particles in the hair follicles MGI:cwg true MP:0005073 inability or reduced ability of neutrophils, eosinophils, or basophils to kill bacteria defective granulocyte bactericidal activity MPheno.ontology MP:0005074 impaired granulocyte bactericidal activity MP:0005074 inability or reduced ability of neutrophils, eosinophils, or basophils to kill bacteria J:5405 MGI:cwg any structural anomaly of the tissue-specific cytoplasmic organelles within which melanin pigments are synthesized and stored GO:0042470 abnormal melanosome MPheno.ontology MP:0005075 abnormal melanosome morphology MP:0005075 any structural anomaly of the tissue-specific cytoplasmic organelles within which melanin pigments are synthesized and stored MGI:cwg anomaly in the process whereby relatively unspecialized cells, e. g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history GO:0030154 MPheno.ontology MP:0005076 abnormal cell differentiation MP:0005076 anomaly in the process whereby relatively unspecialized cells, e. g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history MGI:cwg anomaly in the biosynthetic pathway of melanin formation in cells MPheno.ontology MP:0005077 abnormal melanogenesis MP:0005077 anomaly in the biosynthetic pathway of melanin formation in cells J:5346 MGI:cwg any functional anomaly of the subset of CD8-positive T lymphocytes capable of directly killing appropriately targeted cells CTL dysfunction cytotoxic T cell dysfunction cytotoxic T lymphocyte dysfunction cytotoxic T-cell dysfunction MPheno.ontology MP:0005078 abnormal cytotoxic T cell physiology MP:0005078 any functional anomaly of the subset of CD8-positive T lymphocytes capable of directly killing appropriately targeted cells MESH:A11.118.637.555.567.569.220.200 impaired ability of cytotoxic T cells to induce pathological breakdown of target cells by the destruction of their outer membrane defective CTL cytolysis defective cytotoxic T cell cytolysis defective cytotoxic T lymphocyte cytolysis defective cytotoxic T-cell cytolysis MPheno.ontology MP:0005079 decreased cytotoxic T cell cytolysis MP:0005079 impaired ability of cytotoxic T cells to induce pathological breakdown of target cells by the destruction of their outer membrane MGI:cwg true MP:0005080 any structural anomaly of the thicker, deeper layer of the dermis, comprised of criss-crossing collagen fibers that form a strong elastic network and also containing blood and lymph vessels, nerves and nerve endings, and hair follicles abnormal reticular layer morphology abnormal stratum reticulare corii abnormal stratum reticulare cutis abnormal stratum reticulare morphology abnormal tunica propria corii MPheno.ontology MP:0005081 abnormal dermis reticular layer morphology MP:0005081 any structural anomaly of the thicker, deeper layer of the dermis, comprised of criss-crossing collagen fibers that form a strong elastic network and also containing blood and lymph vessels, nerves and nerve endings, and hair follicles ISBN:0-683-40008-8 true MP:0005082 any structural anomaly of the gall bladder or its bile ducts biliary tract dysplasia MPheno.ontology MP:0005083 abnormal biliary tract morphology MP:0005083 any structural anomaly of the gall bladder or its bile ducts MESH:A03.159 any structural anomaly of the organ which serves as a storage reservoir for bile gallbladder abnormalities gall bladder dysplasia MPheno.ontology abnormal cholecyst morphology MP:0005084 Note that rats, horses and deer do not have a gallbladder. Mice and human have a gallbladder. abnormal gallbladder morphology MP:0005084 any structural anomaly of the organ which serves as a storage reservoir for bile ISBN:0-683-40008-8 MESH:A03.159.439 any functional anomaly of the organ that stores and concentrates bile abnormal gall bladder function abnormal gall bladder physiology abnormal gallbladder function MPheno.ontology MP:0005085 abnormal gallbladder physiology MP:0005085 any functional anomaly of the organ that stores and concentrates bile ISBN:0-683-40008-8 true MP:0005086 less than the expected early reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response diminished acute inflammation diminished acute inflammatory response reduced acute inflammation reduced acute inflammatory response MPheno.ontology MP:0005087 decreased acute inflammation MP:0005087 less than the expected early reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response ISBN:0-397-51047-0 greater than the expected early reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response increased acute inflammatory response MPheno.ontology MP:0005088 increased acute inflammation MP:0005088 greater than the expected early reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response ISBN:0-397-51047-0 reduced numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8 decreased CD4-CD8- T cell count decreased CD4-CD8- T cell numbers decreased double negative T cell number decreased double-negative T cell count decreased double-negative T cell numbers decreased double-negative T-cell numbers reduced CD4-CD8- T cell count reduced CD4-CD8- T cell numbers reduced double negative T cell number reduced double-negative T cell count reduced double-negative T cell numbers reduced double-negative T-cell numbers MPheno.ontology MP:0005089 decreased double-negative T cell number MP:0005089 reduced numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8 ISBN:0-8153-1691-7 greater than expected numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8 increased CD4-CD8- T cell count increased double negative T cell number increased double-negative T cell count increased double-negative T cell numbers increased double-negative T-cell numbers increased numbers of CD4-CD8- T cells increased numbers of double-negative T cells MPheno.ontology MP:0005090 increased double-negative T cell number MP:0005090 greater than expected numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8 ISBN:0-8153-1691-7 greater than the expected number of the subset of T cells found in the thymus that express both CD4 and CD8 increased CD4+CD8+ T cell count increased CD4+CD8+ T cell numbers increased double positive T cell number increased double-positive T cell count increased double-positive T cell numbers increased double-positive T-cell numbers MPheno.ontology MP:0005091 increased double-positive T cell number MP:0005091 greater than the expected number of the subset of T cells found in the thymus that express both CD4 and CD8 ISBN:0-8153-1691-7 less than the expected number of the subset of T cells found in the thymus that express both CD4 and CD8 decreased CD4+CD8+ T cell count decreased CD4+CD8+ T cell numbers decreased double positive T cell number decreased double-positive T cell count decreased double-positive T cell numbers decreased double-positive T-cell numbers reduced CD4+CD8+ T cell count reduced CD4+CD8+ T cell numbers reduced double positive T cell number reduced double-positive T cell count reduced double-positive T cell numbers reduced double-positive T-cell numbers MPheno.ontology MP:0005092 decreased double-positive T cell number MP:0005092 less than the expected number of the subset of T cells found in the thymus that express both CD4 and CD8 ISBN:0-8153-1691-7 absent or reduced expansion rate of the B cell population by cell division in response to stimuli B cell hypoproliferation B lymphocyte hypoproliferation decreased B lymphocyte proliferation defective B cell proliferation defective B-cell proliferation reduced B cell proliferation reduced B lymphocyte proliferation MPheno.ontology impaired B cell proliferation MP:0005093 decreased B cell proliferation MP:0005093 absent or reduced expansion rate of the B cell population by cell division in response to stimuli MGI:cwg https://orcid.org/0000-0003-3691-0324 anomaly in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli abnormal T-cell proliferation MPheno.ontology MP:0005094 abnormal T cell proliferation MP:0005094 anomaly in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli ISBN:0-8153-1691-7 reduction in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli decreased T-cell proliferation impaired T cell proliferation impaired T-cell proliferation reduced T cell proliferation reduced T-cell proliferation MPheno.ontology MP:0005095 decreased T cell proliferation MP:0005095 reduction in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli ISBN:0-8153-1691-7 presence of erythroblasts in great number in the blood MPheno.ontology MP:0005096 erythroblastosis MP:0005096 presence of erythroblasts in great number in the blood ISBN:0-683-40008-8 condition characterized by the presence of red blood cells that have an affinity for acid, basic, and neutral stains polychromasia MPheno.ontology MP:0005097 polychromatophilia MP:0005097 condition characterized by the presence of red blood cells that have an affinity for acid, basic, and neutral stains ISBN:0-683-40008-8 any structural anomaly of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera vascular tunic of the eye abnormalities abnormal choroid morphology abnormal posterior uvea morphology abnormal tunica vasculosa bulbi morphology abnormal uveal tract morphology abnormal vascular layer of the eyeball morphology tunica vasculosa oculi abnormalities choroid dysplasia MPheno.ontology MP:0005098 abnormal optic choroid morphology MP:0005098 any structural anomaly of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera ISBN:0-683-40008-8 any structural anomaly of the thickened portion of the vascular tunic, which lies between the choroid and the iris, and is made up of the ciliary muscle and the ciliary processes; the processes radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye ciliary body abnormalities MPheno.ontology MP:0005099 abnormal ciliary body morphology MP:0005099 any structural anomaly of the thickened portion of the vascular tunic, which lies between the choroid and the iris, and is made up of the ciliary muscle and the ciliary processes; the processes radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 anomalous coloring of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera abnormal uveal pigmentation MPheno.ontology MP:0005100 abnormal choroid pigmentation MP:0005100 anomalous coloring of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera ISBN:0-683-40008-8 anomalous coloring of the thickened portion of the vascular tunic, which lies between the choroid and the iris MPheno.ontology MP:0005101 abnormal ciliary body pigmentation MP:0005101 anomalous coloring of the thickened portion of the vascular tunic, which lies between the choroid and the iris ISBN:0-683-40008-8 anomalous coloring of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye MPheno.ontology MP:0005102 abnormal iris pigmentation MP:0005102 anomalous coloring of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye ISBN:0-683-40008-8 anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors abnormal retinal pigmentation MPheno.ontology MP:0005103 abnormal retina pigmentation MP:0005103 anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors ISBN:0-683-40008-8 any structural anomaly of any of the eight bones of the instep of the paw/foot: tibiale, talus, calcaneus, navicular, 3 cuneiform, and cuboid bones abnormal tarsals morphology abnormal tarsus morphology tarsal bone dysplasia MPheno.ontology MP:0005104 Note that humans only have seven tarsal bones, while rodents have eight. The tibiale is not present in humans. abnormal tarsal bone morphology MP:0005104 any structural anomaly of any of the eight bones of the instep of the paw/foot: tibiale, talus, calcaneus, navicular, 3 cuneiform, and cuboid bones ISBN:0-683-40008-8 ISBN:978-0028454405 any structural anomaly of the three small bones of the middle ear MP:0003738 middle ear bone abnormalities abnormal middle ear bone morphology abnormal middle ear ossicles morphology middle ear ossicle dysplasia MPheno.ontology MP:0005105 abnormal middle ear ossicle morphology MP:0005105 any structural anomaly of the three small bones of the middle ear ISBN:0-683-40008-8 any structural anomaly of the anvil-shaped, central bone of the three auditory ossicles which articulates with the head of the malleus anteromedially and the stapes inferomedially; its parts include: a body which articulates with the head of the malleus, and to which the superior ligament of the incus is attached (to the roof of the middle ear cavity); a long crus down to the lentiform process (lenticular process) which articulates with the stapes; and a short crus to which the posterior ligament of the incus is attached abnormal incus bone morphology MPheno.ontology MP:0005106 abnormal incus morphology MP:0005106 any structural anomaly of the anvil-shaped, central bone of the three auditory ossicles which articulates with the head of the malleus anteromedially and the stapes inferomedially; its parts include: a body which articulates with the head of the malleus, and to which the superior ligament of the incus is attached (to the roof of the middle ear cavity); a long crus down to the lentiform process (lenticular process) which articulates with the stapes; and a short crus to which the posterior ligament of the incus is attached ISBN:0-683-40008-8 any structural anomaly of the smallest and innermost of the three auditory ossicles abnormal stapes MPheno.ontology MP:0005107 abnormal stapes morphology MP:0005107 any structural anomaly of the smallest and innermost of the three auditory ossicles ISBN:0-683-40008-8 any structural anomaly of the medial and larger of the two bones of the forearm ulna dysplasia MPheno.ontology MP:0005108 abnormal ulna morphology MP:0005108 any structural anomaly of the medial and larger of the two bones of the forearm ISBN:0-683-40008-8 any structural anomaly of the bone that articulates with the tibia and fibula abnormal ankle bone morphology abnormal astragalus morphology talus dysplasia MPheno.ontology MP:0005109 abnormal talus morphology MP:0005109 any structural anomaly of the bone that articulates with the tibia and fibula ISBN:0-683-40008-8 absence of the bone that articulates with the tibia and fibula MPheno.ontology MP:0005110 absent talus MP:0005110 absence of the bone that articulates with the tibia and fibula ISBN:0-683-40008-8 intense thirst that is relatively temporary MPheno.ontology MP:0005111 hyperdipsia MP:0005111 intense thirst that is relatively temporary ISBN:0-683-40008-8 J:83217 any structural anomaly of the ventral grey column of the spinal cord MA:0001134 abnormal anterior column morphology abnormal anterior horn morphology abnormal ventral horn morphology MPheno.ontology MP:0005112 Note that the synonym anterior column may refer to either the grey matter ventral horn or the white matter ventral column in the spinal cord. The synonym anterior horn may also refer to a region of the brain lateral ventricles. abnormal spinal cord ventral horn morphology MP:0005112 any structural anomaly of the ventral grey column of the spinal cord ISBN:0-683-40008-8 fewer than the expected number of cells in the ventral grey column of the spinal cord decreased anterior column cell number decreased anterior horn cell number decreased number of anterior horn cells decreased spinal cord anterior horn cell number reduced anterior horn cell number MPheno.ontology MP:0005113 The synonym anterior horn may also refer to a region of the brain lateral ventricles. decreased spinal cord ventral horn cell number MP:0005113 fewer than the expected number of cells in the ventral grey column of the spinal cord ISBN:0-683-40008-8 release of fur at an earlier than expected time MPheno.ontology MP:0005114 premature hair loss MP:0005114 release of fur at an earlier than expected time MGI:cwg true MP:0005115 aberration in the blood concentration of any of the hormones secreted by the pituitary MP:0005115 abnormal circulating level of pituitary hormone abnormal serum level of pituitary hormone MPheno.ontology MP:0005116 abnormal circulating pituitary hormone level MP:0005116 aberration in the blood concentration of any of the hormones secreted by the pituitary MGI:cwg greater than expected concentration of any of the pituitary hormones in the blood increased serum level of pituitary hormone MPheno.ontology MP:0005117 increased circulating pituitary hormone level MP:0005117 greater than expected concentration of any of the pituitary hormones in the blood MGI:cwg less than expected concentration of any of the pituitary hormones found in the blood reduced circulating pituitary hormone level decreased serum levels of pituitary hormone MPheno.ontology MP:0005118 decreased circulating pituitary hormone level MP:0005118 less than expected concentration of any of the pituitary hormones found in the blood MGI:cwg reduced amount in the blood of the hormone that stimulates the growth and function of the thyroid gland reduced circulating thyroid-stimulating hormone decreased serum levels of TSH decreased serum levels of thyroid-stimulating hormone decreased serum levels of thyropic hormone decreased serum levels of thyrotrophin decreased serum levels of thyrotropin MPheno.ontology MP:0005119 decreased circulating thyroid-stimulating hormone level MP:0005119 reduced amount in the blood of the hormone that stimulates the growth and function of the thyroid gland ISBN:0-683-40008-8 less than the expected blood concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization reduced circulating growth hormone level decreased serum levels of GH decreased serum levels of growth hormone decreased serum levels of somatotropic hormone decreased serum levels of somatropin MPheno.ontology MP:0005120 decreased circulating growth hormone level MP:0005120 less than the expected blood concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization ISBN:0-683-40008-8 less than expected blood concentration of the hormone that stimulates milk secretion decreased circulating mammotropin level hypoprolactinaemia hypoprolactinemia reduced circulating prolactin level decreased serum levels of PRL decreased serum levels of galactopoietic hormone decreased serum levels of lactation hormone decreased serum levels of lactogenic hormone decreased serum levels of lactotropin decreased serum levels of mammotropic factor decreased serum levels of mammotropic hormone decreased serum levels of prolactin MPheno.ontology MP:0005121 decreased circulating prolactin level MP:0005121 less than expected blood concentration of the hormone that stimulates milk secretion ISBN:0-683-40008-8 decreased circulating mammotropin level MESH:D06.472.699.322.576.773 decreased serum levels of PRL MESH:D06.472.699.322.576.773 decreased serum levels of lactogenic hormone MESH:D06.472.699.322.576.773 decreased serum levels of mammotropic hormone MESH:D06.472.699.322.576.773 greater amount in the blood of the hormone that stimulates the growth and function of the thyroid gland increased serum levels of TSH increased serum levels of thyroid-stimulating hormone increased serum levels of thyrotrophin increased serum levels of thyrotropic hormone increased serum levels of thyrotropin MPheno.ontology MP:0005122 increased circulating thyroid-stimulating hormone level MP:0005122 greater amount in the blood of the hormone that stimulates the growth and function of the thyroid gland ISBN:0-683-40008-8 greater than the expected blood concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization increased serum levels of GH increased serum levels of growth hormone increased serum levels of somatotropic hormone increased serum levels of somatotropin MPheno.ontology MP:0005123 increased circulating growth hormone level MP:0005123 greater than the expected blood concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization ISBN:0-683-40008-8 greater than expected blood concentration of the hormone that stimulates milk secretion hyperprolactinaemia hyperprolactinemia increased serum levels of PRL increased serum levels of galactopoietic hormone increased serum levels of lactation hormone increased serum levels of lactogenic hormone increased serum levels of lactotropin increased serum levels of mammotropic factor increased serum levels of mammotropic hormone increased serum levels of prolactin MPheno.ontology MP:0005124 increased circulating prolactin level MP:0005124 greater than expected blood concentration of the hormone that stimulates milk secretion ISBN:0-683-40008-8 true MP:0005125 true MP:0005126 true MP:0005127 decreased concentration of adrenocorticotropic hormone decreased level of ACTH decreased level of adrenocorticotropic hormone decreased level of adrenocorticotropin decreased level of adrenotropic hormone decreased level of adrenotropin reduced adrenocorticotropin level decreased pituitary levels of ACTH decreased pituitary levels of adrenocorticotropin MPheno.ontology MP:0005128 decreased adrenocorticotropin level MP:0005128 decreased concentration of adrenocorticotropic hormone ISBN:0-683-40008-8 increased concentration of adrenocorticotropic hormone increased level of ACTH increased level of adrenocorticotropic hormone increased level of adrenocorticotropin increased level of adrenotropic hormone increased level of adrenotropin increased pituitary levels of ACTH increased pituitary levels of adrenocorticotropin MPheno.ontology MP:0005129 increased adrenocorticotropin level MP:0005129 increased concentration of adrenocorticotropic hormone ISBN:0-683-40008-8 less than expected concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis decreased pituitary levels of FSH decreased pituitary levels of follicle stimulating hormone reduced follicle stimulating hormone level MPheno.ontology MP:0005130 decreased follicle stimulating hormone level MP:0005130 less than expected concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis ISBN:0-683-40008-8 greater than expected concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis increased pituitary levels of FSH increased pituitary levels of follicle stimulating hormone MPheno.ontology MP:0005131 increased follicle stimulating hormone level MP:0005131 greater than expected concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis ISBN:0-683-40008-8 lower than normal concentration of LH decreased luteinising hormone level reduced luteinising hormone level reduced luteinizing hormone level decreased pituitary levels of LH decreased pituitary levels of luteinising hormone decreased pituitary levels of luteinizing hormone MPheno.ontology MP:0005132 decreased luteinizing hormone level MP:0005132 lower than normal concentration of LH ISBN:0-683-40008-8 higher than normal levels of LH increased luteinising hormone level increased pituitary levels of LH increased pituitary levels of luteinising hormone increased pituitary levels of luteinizing hormone MPheno.ontology MP:0005133 increased luteinizing hormone level MP:0005133 higher than normal levels of LH ISBN:0-683-40008-8 reduced amount of the hormone that stimulates the growth and function of the thyroid gland decreased TSH level decreased thyropic hormone level decreased thyrotrophin level decreased thyrotropin level reduced thyroid-stimulating hormone level decreased pituitary levels of TSH decreased pituitary levels of thyroid-stimulating hormone MPheno.ontology MP:0005134 decreased thyroid-stimulating hormone level MP:0005134 reduced amount of the hormone that stimulates the growth and function of the thyroid gland ISBN:0-683-40008-8 greater amount of the hormone that stimulates the growth and function of the thyroid gland increased TSH level increased thyropic hormone level increased thyrotrophin level increased thyrotropin level increased pituitary levels of TSH increased pituitary levels of thyroid-stimulating hormone MPheno.ontology MP:0005135 increased thyroid-stimulating hormone level MP:0005135 greater amount of the hormone that stimulates the growth and function of the thyroid gland ISBN:0-683-40008-8 less than the expected concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization decreased level of GH decreased level of growth hormone decreased level of pituitary growth hormone decreased level of somatotropic hormone decreased level of somatotropin reduced growth hormone level decreased pituitary levels of GH decreased pituitary levels of growth hormone MPheno.ontology MP:0005136 decreased growth hormone level MP:0005136 less than the expected concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization ISBN:0-683-40008-8 greater than the expected concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization increased level of GH increased level of growth hormone increased level of pituitary growth hormone increased level of somatotropic hormone increased level of somatotropin increased pituitary levels of GH increased pituitary levels of growth hormone MPheno.ontology MP:0005137 increased growth hormone level MP:0005137 greater than the expected concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization ISBN:0-683-40008-8 less than expected concentration of the hormone that stimulates milk secretion decreased PRL level decreased galactopoietic hormone level decreased lactation hormone level decreased lactogenic hormone level decreased lactotropin level decreased mammotropic factor level decreased mammotropic hormone level decreased mammotropin level reduced prolactin level decreased pituitary levels of PRL decreased pituitary levels of prolactin MPheno.ontology MP:0005138 decreased prolactin level MP:0005138 less than expected concentration of the hormone that stimulates milk secretion ISBN:0-683-40008-8 decreased PRL level MESH:D06.472.699.322.576.773 decreased lactogenic hormone level MESH:D06.472.699.322.576.773 decreased mammotropic hormone level MESH:D06.472.699.322.576.773 decreased mammotropin level MESH:D06.472.699.322.576.773 greater than expected concentration of the hormone that stimulates milk secretion increased PRL level increased galactopoietic hormone level increased lactation hormone level increased lactogenic hormone level increased lactotropin level increased mammotropic factor level increased mammotropic hormone level increased mammotropin level increased pituitary levels of PRL increased pituitary levels of prolactin MPheno.ontology MP:0005139 increased prolactin level MP:0005139 greater than expected concentration of the hormone that stimulates milk secretion ISBN:0-683-40008-8 increased PRL level MESH:D06.472.699.322.576.773 increased lactogenic hormone level MESH:D06.472.699.322.576.773 increased mammotropic hormone level MESH:D06.472.699.322.576.773 increased mammotropin level MESH:D06.472.699.322.576.773 inability or reduced ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume MP:0002974 decreased cardiac muscle contraction impaired cardiac contractility impaired cardiac muscle contractility reduced cardiac contractility reduced cardiac muscle contractility reduced fractional shortening (FS) reduced peak of aortic outflow velocity (PAV) reduced velocity of circumferential fiber shortening (Vcfc) reduced velocity of circumferential fibre shortening (Vcfc) reduced ventricular ejection fraction volume MPheno.ontology MP:0005140 decreased cardiac muscle contractility MP:0005140 inability or reduced ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume ISBN:0-683-40008-8 increase in the number of normal cells in normal arrangement in the liver, typically resulting in increased size hepatic hyperplasia hyperplastic liver MPheno.ontology MP:0005141 liver hyperplasia MP:0005141 increase in the number of normal cells in normal arrangement in the liver, typically resulting in increased size MGI:cwg true MP:0005142 true MP:0005143 any anomaly in the amount in the blood of the lipoprotein:cholesterol complex that transports triglycerides from the intestine and liver to muscle and adipose tissue abnormal blood VLDL cholesterol level MPheno.ontology MP:0005144 abnormal circulating VLDL cholesterol level MP:0005144 any anomaly in the amount in the blood of the lipoprotein:cholesterol complex that transports triglycerides from the intestine and liver to muscle and adipose tissue https://orcid.org/0000-0003-3691-0324 greater amount in the blood of the lipoprotein:cholesterol complex that transports triglycerides from the intestine and liver to muscle and adipose tissue elevated VLDL cholesterol level increased VLDL cholesterol level elevated circulating VLDL cholesterol level MPheno.ontology MP:0005145 increased circulating VLDL cholesterol level MP:0005145 greater amount in the blood of the lipoprotein:cholesterol complex that transports triglycerides from the intestine and liver to muscle and adipose tissue https://orcid.org/0000-0003-3691-0324 reduced amount in the blood of the lipoprotein:cholesterol complex that transports triglycerides from the intestine and liver to muscle and adipose tissue decreased VLDL cholesterol level low VLDL cholesterol level reduced VLDL cholesterol level reduced circulating VLDL cholesterol level MPheno.ontology MP:0005146 decreased circulating VLDL cholesterol level MP:0005146 reduced amount in the blood of the lipoprotein:cholesterol complex that transports triglycerides from the intestine and liver to muscle and adipose tissue https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the prostate gland, typically resulting in decreased size hypoplastic prostate gland MPheno.ontology MP:0005147 prostate gland hypoplasia MP:0005147 decrease in the number of normal cells in normal arrangement in the prostate gland, typically resulting in decreased size ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the seminal vesicle, typically resulting in decreased size hypoplastic seminal gland hypoplastic seminal vesicle seminal gland hypoplasia MPheno.ontology MP:0005148 seminal vesicle hypoplasia MP:0005148 decrease in the number of normal cells in normal arrangement in the seminal vesicle, typically resulting in decreased size MGI:cwg any structural anomaly of the genitoinguinal ligaments that, in the male, connect the fetal testis to the developing scrotum, and, in the female, connect the ovaries to the uterus abnormal gubernaculae abnormal caudal suspensory ligament morphology gubernaculum dysplasia MPheno.ontology MP:0005149 abnormal gubernaculum morphology MP:0005149 any structural anomaly of the genitoinguinal ligaments that, in the male, connect the fetal testis to the developing scrotum, and, in the female, connect the ovaries to the uterus ISBN:0-683-40008-8 general weight loss and wasting occurring in the course of chronic disease emaciation wasting MPheno.ontology MP:0005150 cachexia MP:0005150 general weight loss and wasting occurring in the course of chronic disease ISBN:0-683-40008-8 morphological changes resulting from disseminated pathological death of some or all liver tissue; usually due to irreversible damage diffuse liver necrosis diffusely necrotic liver MPheno.ontology MP:0005151 diffuse hepatic necrosis MP:0005151 morphological changes resulting from disseminated pathological death of some or all liver tissue; usually due to irreversible damage ISBN:0-683-40008-8 reduction in the number of erythrocytes, all types of white blood cells, and platelets in the circulating blood MPheno.ontology MP:0005152 pancytopenia MP:0005152 reduction in the number of erythrocytes, all types of white blood cells, and platelets in the circulating blood ISBN:0-683-40008-8 anomaly in the ability of the B cell population to undergo rapid expansion by cell division in response to stimuli abnormal B lymphocyte proliferation abnormal B-cell proliferation MPheno.ontology MP:0005153 abnormal B cell proliferation MP:0005153 anomaly in the ability of the B cell population to undergo rapid expansion by cell division in response to stimuli MGI:cwg https://orcid.org/0000-0003-3691-0324 greater than normal expansion rate of the B cell population by cell division in response to stimuli B cell hyperproliferation B-cell hyperproliferation enhanced B cell proliferation enhanced B-cell proliferation increased B-cell proliferation MPheno.ontology MP:0005154 increased B cell proliferation MP:0005154 greater than normal expansion rate of the B cell population by cell division in response to stimuli MGI:cwg https://orcid.org/0000-0003-3691-0324 protrusion of any portion of the intestine from its normal anatomical position intestinal hernia intestinal herniation MPheno.ontology MP:0005155 herniated intestine MP:0005155 protrusion of any portion of the intestine from its normal anatomical position ISBN:0-683-40008-8 decreased spontaneity and movement, without external stimulus bradycinesia reduced spontaneous movement MPheno.ontology hypokinesia MP:0005156 bradykinesia MP:0005156 decreased spontaneity and movement, without external stimulus ISBN:0-683-40008-8 presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development Fyler:4338 HPE MPheno.ontology MP:0005157 holoprosencephaly MP:0005157 presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the ovary, typically resulting in decreased size MP:0003583 hypoplastic ovaries hypoplastic ovary ovarian hypoplasia rudimentary ovary MPheno.ontology MP:0005158 ovary hypoplasia MP:0005158 decrease in the number of normal cells in normal arrangement in the ovary, typically resulting in decreased size MGI:cwg a condition where there is no measurable level of spermatozoa in the semen absence of sperm absent sperm aspermia MPheno.ontology MP:0005159 azoospermia MP:0005159 a condition where there is no measurable level of spermatozoa in the semen MGI:llw2 true MP:0005160 presence of blood in the urine haematuria MPheno.ontology MP:0005161 hematuria MP:0005161 presence of blood in the urine ISBN:0-683-40008-8 paralysis of the extensors of the wrist and fingers; most often caused by a lesion of the radial nerve carpoptosia drop hand drop wrist wrist drop MPheno.ontology MP:0005162 carpoptosis MP:0005162 paralysis of the extensors of the wrist and fingers; most often caused by a lesion of the radial nerve ISBN:0-683-40008-8 a congenital defect characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities; cyclopia is a rare form of holoprosencephaly that typically presents with a median single eye or a partially divided eye in a single orbit, absent nose, and a proboscis above the eye Cyclops eye cyclocephaly cyclopea one eye single central eye synophthalmia synophthalmus MPheno.ontology MP:0005163 cyclopia MP:0005163 a congenital defect characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities; cyclopia is a rare form of holoprosencephaly that typically presents with a median single eye or a partially divided eye in a single orbit, absent nose, and a proboscis above the eye ISBN:0-683-40008-8 PMID:25698887 anomaly in the body's reaction to trauma, especially that by physical means MPheno.ontology MP:0005164 abnormal response to injury MP:0005164 anomaly in the body's reaction to trauma, especially that by physical means ISBN:0-683-40008-8 greater than the normal reaction to trauma, especially that by physical means decreased resistance to injury increased response to injury MPheno.ontology MP:0005165 increased susceptibility to injury MP:0005165 greater than the normal reaction to trauma, especially that by physical means ISBN:0-683-40008-8 less than the normal reaction to trauma, especially that by physical means decreased response to injury increased resistance to injury reduced susceptibility to injury MPheno.ontology MP:0005166 decreased susceptibility to injury MP:0005166 less than the normal reaction to trauma, especially that by physical means ISBN:0-683-40008-8 anomaly in the function of the group of barriers and transport systems in the brain capillary endothelium that controls the entrance of substances into the brain extracellular space from the blood abnormal BBB function MPheno.ontology MP:0005167 abnormal blood-brain barrier function MP:0005167 anomaly in the function of the group of barriers and transport systems in the brain capillary endothelium that controls the entrance of substances into the brain extracellular space from the blood ISBN:0-683-40008-8 anomaly in the process of nuclear division that results in ova with one half the normal chromosome number of the original cell GO:0007143 MPheno.ontology MP:0005168 abnormal female meiosis MP:0005168 anomaly in the process of nuclear division that results in ova with one half the normal chromosome number of the original cell ISBN:0-683-40008-8 anomaly in the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell GO:0007140 MPheno.ontology MP:0005169 abnormal male meiosis MP:0005169 anomaly in the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell ISBN:0-683-40008-8 defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences cleft lip Fyler:4875 cheiloschisis harelip MPheno.ontology MP:0005170 cleft upper lip MP:0005170 defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences MESH:C07.465.409.225 fur or hair is devoid of coloration and appears white absent hair pigmentation albino coat lack of coat pigmentation MPheno.ontology absent fur pigmentation MP:0005171 absent coat pigmentation MP:0005171 fur or hair is devoid of coloration and appears white MGI:cwg the eye has less pigmentation than normal with a possible range of color from dark red, somewhat reduced in pigment, to pink, typical of albinism or ocular albinism reduced eye pigmentation MPheno.ontology MP:0005172 decreased eye pigmentation MP:0005172 the eye has less pigmentation than normal with a possible range of color from dark red, somewhat reduced in pigment, to pink, typical of albinism or ocular albinism MGI:llw2 true MP:0005173 anomaly in the coloration of the tail due to changes in the amount, shape, or distribution of cells producing pigment tail pigmentation abnormalities MPheno.ontology MP:0005174 abnormal tail pigmentation MP:0005174 anomaly in the coloration of the tail due to changes in the amount, shape, or distribution of cells producing pigment MGI:cwg MGI:llw2 lack of color at the end of the tail MPheno.ontology MP:0005175 non-pigmented tail tip MP:0005175 lack of color at the end of the tail MGI:cwg eyes remain shut when eyelids are expected to be open closed eyes eye lids fail to open eyelids don't open eyes fail to open MPheno.ontology MP:0005176 In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later. eyelids fail to open MP:0005176 eyes remain shut when eyelids are expected to be open MGI:cwg true MP:0005177 greater than the normal amount in the blood of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MP:0001550 MP:0002615 elevated total circulating cholesterol level hypercholesterolaemia hypercholesterolemia increased total circulating cholesterol level elevated total plasma cholesterol level elevated total serum cholesterol level high serum cholesterol level increased total plasma cholesterol level increased total serum cholesterol level MPheno.ontology MP:0005178 increased circulating cholesterol level MP:0005178 greater than the normal amount in the blood of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues https://orcid.org/0000-0003-3691-0324 less than the normal amount in the blood of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MP:0002616 decreased total circulating cholesterol level hypocholesterolaemia hypocholesterolemia low total circulating cholesterol level reduced circulating cholesterol level decreased total plasma cholesterol level decreased total serum cholesterol level low total plasma cholesterol level low total serum cholesterol level MPheno.ontology MP:0005179 decreased circulating cholesterol level MP:0005179 less than the normal amount in the blood of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues https://orcid.org/0000-0003-3691-0324 anomaly in the blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females abnormal circulating level of testosterone MPheno.ontology MP:0005180 abnormal circulating testosterone level MP:0005180 anomaly in the blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females ISBN:0-683-40008-8 MGI:cwg less than the normal blood concentration of this most potent naturally occurring estrogen in mammals decreased circulating oestradiol level reduced circulating estradiol level reduced circulating oestradiol level decreased serum estradiol level decreased serum oestradiol level reduced serum estradiol level reduced serum oestradiol level MPheno.ontology MP:0005181 decreased circulating estradiol level MP:0005181 less than the normal blood concentration of this most potent naturally occurring estrogen in mammals ISBN:0-683-40008-8 greater than the normal blood concentration of this most potent naturally occurring estrogen in mammals increased circulating oestradiol level elevated serum estradiol level elevated serum oestradiol level increased serum estradiol level increased serum oestradiol level MPheno.ontology MP:0005182 increased circulating estradiol level MP:0005182 greater than the normal blood concentration of this most potent naturally occurring estrogen in mammals ISBN:0-683-40008-8 aberration in the blood concentration of this most potent estrogen abnormal circulating level of estradiol abnormal circulating level of oestradiol abnormal circulating oestradiol level MPheno.ontology MP:0005183 abnormal circulating estradiol level MP:0005183 aberration in the blood concentration of this most potent estrogen MGI:cwg anomaly in the blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy abnormal circulating level of progesterone MPheno.ontology MP:0005184 abnormal circulating progesterone level MP:0005184 anomaly in the blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy ISBN:0-683-40008-8 reduced blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy reduced circulating progesterone level decreased serum progesterone level reduced serum progesterone level MPheno.ontology MP:0005185 decreased circulating progesterone level MP:0005185 reduced blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy ISBN:0-683-40008-8 increased blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy elevated serum progesterone level increased serum progesterone level MPheno.ontology MP:0005186 increased circulating progesterone level MP:0005186 increased blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy ISBN:0-683-40008-8 any structural anomaly of the organ of copulation and urination in the male abnormality of the penis penis dysplasia MPheno.ontology MP:0005187 abnormal penis morphology MP:0005187 any structural anomaly of the organ of copulation and urination in the male ISBN:0-683-40008-8 reduced size of the organ of copulation and urination in the male decreased penis size micropenis microphallus MPheno.ontology MP:0005188 small penis MP:0005188 reduced size of the organ of copulation and urination in the male ISBN:0-683-40008-8 in comparison to the norm, aberration in the measure of the length of space from the genitals to the anus abnormal ano-genital distance MPheno.ontology MP:0005189 abnormal anogenital distance MP:0005189 in comparison to the norm, aberration in the measure of the length of space from the genitals to the anus MGI:cwg bone inflammation MPheno.ontology MP:0005190 osteomyelitis MP:0005190 bone inflammation ISBN:0-683-40008-8 condition in which the portion of the body containing the brain and organs of sight, hearing, taste, and smell lists to the side MPheno.ontology MP:0005191 head tilt MP:0005191 condition in which the portion of the body containing the brain and organs of sight, hearing, taste, and smell lists to the side MGI:cwg greater than the normal number of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses increased motoneuron number MPheno.ontology MP:0005192 increased motor neuron number MP:0005192 greater than the normal number of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses https://orcid.org/0000-0002-0371-1954 any structural anomaly of any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive) MP:0000095 abnormal anterior segment morphology anterior eye segment dysplasia MPheno.ontology MP:0005193 abnormal anterior eye segment morphology MP:0005193 any structural anomaly of any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive) ISBN:0-683-40008-8 MESH:A09.371.060 any structural anomaly of any of the parts of the front, or ventral, portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris uveal tract abnormalities vascular layer of the eyeball vascular tunic of the eye Haller tunica vascula abnormalities anterior uvea abnormalities tunica vasculosa bulbosa abnormalities vasculosa oculi abnormalities MPheno.ontology MP:0005194 abnormal anterior uvea morphology MP:0005194 any structural anomaly of any of the parts of the front, or ventral, portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris ISBN:0-683-40008-8 any structural anomaly of any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive) posterior eye segment dysplasia MPheno.ontology MP:0005195 abnormal posterior eye segment morphology MP:0005195 any structural anomaly of any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive) ISBN:0-683-40008-8 any structural anomaly of the rear, or dorsal, portion of the vascular, pigmentary, or middle coat of the eye, includes the choroid MP:0005098 uveal tract abnormalities vascular layer of the eyeball vascular tunic of the eye abnormalities posterior uvea abnormalities tunica vasculosa bulbi tunica vasculosa oculi abnormalities MPheno.ontology MP:0005196 obsolete abnormal posterior uvea morphology true MP:0005196 any structural anomaly of the rear, or dorsal, portion of the vascular, pigmentary, or middle coat of the eye, includes the choroid ISBN:0-683-40008-8 any structural anomaly of the pigmented vascular coat of the eyeball, consisting of the iris, ciliary body, and choroid abnormal tunica vasculosa of eyeball morphology uvea dysplasia MPheno.ontology abnormal vascular layer of the eyeball morphology MP:0005197 abnormal uvea morphology MP:0005197 any structural anomaly of the pigmented vascular coat of the eyeball, consisting of the iris, ciliary body, and choroid MESH:A09.371.894 any structural anomaly of the structures associated with drainage of the aqueous humor from the eye, that include the trabecular meshwork, Schlemm's canal, the uveoscleral network, and the aqueous veins MPheno.ontology MP:0005198 abnormal aqueous drainage system morphology MP:0005198 any structural anomaly of the structures associated with drainage of the aqueous humor from the eye, that include the trabecular meshwork, Schlemm's canal, the uveoscleral network, and the aqueous veins PMID:8652890 anomaly in the epithelial layer of the iris composed of cells containing pigment granules MPheno.ontology MP:0005199 abnormal iris pigment epithelium MP:0005199 anomaly in the epithelial layer of the iris composed of cells containing pigment granules ISBN:0-683-40008-8 OBSOLETE. any structural anomaly in the epithelial layer of the retina, ciliary body, or iris composed of cells containing pigment granules abnormal pigment epithelium of the eye MPheno.ontology MP:0005200 This term is not specific to a structure. Best to use the more specific terms of 'abnormal retinal pigment epithelium morphology', 'abnormal ciliary body pigmentation' or 'abnormal iris pigmentation'. obsolete abnormal eye pigment epithelium morphology true MP:0005200 OBSOLETE. any structural anomaly in the epithelial layer of the retina, ciliary body, or iris composed of cells containing pigment granules MESH:A09.371.670 any structural anomaly in the epithelial layer of the retina composed of cells containing pigment granules abnormal RPE morphology abnormal pigmented retinal epithelium morphology abnormal retinal pigment epithelium morphology MPheno.ontology MP:0005201 abnormal retina pigment epithelium morphology MP:0005201 any structural anomaly in the epithelial layer of the retina composed of cells containing pigment granules MESH:A09.371.670 mild impairment of consciousness resulting in reduced alertness and awareness and/or sluggish behavior or inactivity; can be due to generalized brain dysfunction languor listlessness torpidity torpor MPheno.ontology MP:0005202 lethargy MP:0005202 mild impairment of consciousness resulting in reduced alertness and awareness and/or sluggish behavior or inactivity; can be due to generalized brain dysfunction ISBN:0-683-40008-8 any structural anomaly in the pore-like structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates MPheno.ontology MP:0005203 abnormal trabecular meshwork morphology MP:0005203 any structural anomaly in the pore-like structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates MESH:A09.371.060.932 any structural anomaly in the vascular structure encircling the anterior chamber of the eye, through which the aqueous humor is returned to the blood circulation Fontana canal abnormalities Lauth canal abnormalities Schlemm's canal circular sinus abnormalities scleral venous sinus abnormalities sinus circularis abnormalities sinus venosus sclerae abnormalities venous sinus of sclera abnormalities MPheno.ontology MP:0005204 abnormal canal of Schlemm morphology MP:0005204 any structural anomaly in the vascular structure encircling the anterior chamber of the eye, through which the aqueous humor is returned to the blood circulation ISBN:0-683-40008-8 any structural anomaly of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens eye anterior chamber abnormalities MPheno.ontology MP:0005205 abnormal eye anterior chamber morphology MP:0005205 any structural anomaly of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens MESH:A09.371.060.067 anomaly in the clear, watery fluid that fills the anterior and posterior chambers of the eye abnormal aqueous flare abnormal aqueous humour abnormal intraocular fluid aqueous humor abnormalities aqueous humour abnormalities MPheno.ontology MP:0005206 abnormal aqueous humor MP:0005206 anomaly in the clear, watery fluid that fills the anterior and posterior chambers of the eye MESH:A09.371.060.067.070 any structural anomaly of this vessel that receives aqueous humor from the sinus venosus sclerae (canal of Schlemm) MPheno.ontology MP:0005207 abnormal aqueous vein morphology MP:0005207 any structural anomaly of this vessel that receives aqueous humor from the sinus venosus sclerae (canal of Schlemm) ISBN:0-683-40008-8 any structural anomaly of the lamellated vascular connective tissue of the iris abnormal stroma iridis MPheno.ontology MP:0005208 abnormal iris stroma morphology MP:0005208 any structural anomaly of the lamellated vascular connective tissue of the iris ISBN:0-683-40008-8 true MP:0005209 derangement of the pattern of the mucous layer of the stomach wall disorganised gastric mucosa MPheno.ontology MP:0005210 disorganized stomach mucosa MP:0005210 derangement of the pattern of the mucous layer of the stomach wall https://orcid.org/0000-0003-3691-0324 greater than the normal depth or width of the of the mucous layer of the stomach wall expanded mucosal thickness of the stomach increased thickness of gastric mucosa MPheno.ontology MP:0005211 increased stomach mucosa thickness MP:0005211 greater than the normal depth or width of the of the mucous layer of the stomach wall https://orcid.org/0000-0003-3691-0324 OBSOLETE. unusual appearance of stomach mucosa in which one finds cells resembling those that produce and secrete mucins MPheno.ontology MP:0005212 obsolete immature goblet-like cells in stomach true MP:0005212 OBSOLETE. unusual appearance of stomach mucosa in which one finds cells resembling those that produce and secrete mucins MGI:cwg condition in which there is a change of one adult cell type to another adult cell type in the stomach MPheno.ontology MP:0005213 gastric metaplasia MP:0005213 condition in which there is a change of one adult cell type to another adult cell type in the stomach PMID:12080087 localized areas of the stomach in which there is a change from one adult cell type to another adult cell type MPheno.ontology MP:0005214 regional gastric metaplasia MP:0005214 localized areas of the stomach in which there is a change from one adult cell type to another adult cell type PMID:12080087 any structural anomaly of the clusters of hormone-producing cells that are scattered throughout the pancreas MP:0001946 MP:0005219 abnormal islands of Langerhans morphology abnormal islet of Langerhans abnormal islet of Langerhans morphology islet cell abnormalities MPheno.ontology MP:0005215 abnormal pancreatic islet morphology MP:0005215 any structural anomaly of the clusters of hormone-producing cells that are scattered throughout the pancreas MA:0000127 MESH:A03.734.414 any structural anomaly of the cells of the pancreas that secrete glucagon abnormal glucagon-secreting cell abnormal pancreatic A cell abnormal pancreatic alpha cells MPheno.ontology MP:0005216 abnormal pancreatic alpha cell morphology MP:0005216 any structural anomaly of the cells of the pancreas that secrete glucagon MESH:A03.734.414.065 any structural anomaly of a cell that secretes insulin and is located towards the center of the islets of Langerhans in the pancreas abnormal insulin-secreting cells abnormal pancreatic B cells abnormal pancreatic beta cells abnormal type B enteroendocrine cell morphology MPheno.ontology MP:0005217 abnormal pancreatic beta cell morphology MP:0005217 any structural anomaly of a cell that secretes insulin and is located towards the center of the islets of Langerhans in the pancreas CL:0000169 any structural anomaly of the cells found in the pancreas that secrete somatostatin abnormal pancreatic D cells abnormal D cells abnormal pancreatic delta cells abnormal somatostatin-secreting cell morphology MPheno.ontology MP:0005218 abnormal pancreatic delta cell morphology MP:0005218 any structural anomaly of the cells found in the pancreas that secrete somatostatin MESH:A03.556.875.875.440.854 true MP:0005219 any structural anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes abnormal exocrine pancreas MPheno.ontology MP:0005220 abnormal exocrine pancreas morphology MP:0005220 any structural anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes MESH:A03.734.540 anomaly in the development or formation of the axis that runs from the head to the tail of the body MP:0001703 abnormal head-tail axis patterning abnormal rostro-caudal axis patterning abnormal anterior-posterior axis patterning MPheno.ontology MP:0005221 abnormal rostral-caudal axis patterning MP:0005221 anomaly in the development or formation of the axis that runs from the head to the tail of the body MGI:cwg atypical size of any of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo irregular somite size MPheno.ontology MP:0005222 abnormal somite size MP:0005222 atypical size of any of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo https://orcid.org/0000-0002-6490-7723 anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body abnormal anterior-posterior polarity of the somites abnormal ventro-dorsal polarity of the somites MPheno.ontology MP:0005223 abnormal dorsal-ventral polarity of the somites MP:0005223 anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body MGI:cwg PMID:11641270 anomaly in the formation or development of the somites in relation to the left and right sides of the body left-right asymmetry MPheno.ontology MP:0005224 abnormal left-right axis symmetry of the somites MP:0005224 anomaly in the formation or development of the somites in relation to the left and right sides of the body MGI:cwg anomalous formation of the vertebrae from the sclerotome MPheno.ontology MP:0005225 abnormal vertebrae development MP:0005225 anomalous formation of the vertebrae from the sclerotome MGI:cwg anomalous formation of the posterior projection from the body of a vertebra that encloses the vertebral foramen abnormal dorsal arch development abnormal neural arch development MPheno.ontology MP:0005226 abnormal vertebral arch development MP:0005226 anomalous formation of the posterior projection from the body of a vertebra that encloses the vertebral foramen ISBN:0-683-40008-8 anomalous formation of the main portion of the vertebra anterior to the vertebral canal, and distinct from the vertebral arch MPheno.ontology MP:0005227 abnormal vertebral body development MP:0005227 anomalous formation of the main portion of the vertebra anterior to the vertebral canal, and distinct from the vertebral arch ISBN:0-683-40008-8 OBSOLETE. improper joining of the main portion of the vertebra anterior to the vertebral canal and the cartilaginous or bony arch that encloses and protects the spinal cord on the back vertebral body/neural arch fusion MPheno.ontology MP:0005228 obsolete abnormal fusion of vertebral bodies/neural arches true MP:0005228 OBSOLETE. improper joining of the main portion of the vertebra anterior to the vertebral canal and the cartilaginous or bony arch that encloses and protects the spinal cord on the back ISBN:0-683-40008-8 any anomaly in the formation of the cartilaginous and gelatinous structure found between vertebrae abnormal intervertebral disc development abnormal intervertebral disc formation abnormal intervertebral disk formation MPheno.ontology MP:0005229 abnormal intervertebral disk development MP:0005229 any anomaly in the formation of the cartilaginous and gelatinous structure found between vertebrae MGI:cwg absence of the middle rays, i.e., the central digits; usually associated with cleft hands/feet and may also include syndactyly or aplasia of remaining digits MPheno.ontology MP:0005230 ectrodactyly MP:0005230 absence of the middle rays, i.e., the central digits; usually associated with cleft hands/feet and may also include syndactyly or aplasia of remaining digits MIM:119100 any structural anomaly of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes brachial lymph node abnormalities humeral axillary lymph node abnormalities MPheno.ontology MP:0005231 abnormal brachial lymph node morphology MP:0005231 any structural anomaly of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes ISBN:0-683-40008-8 any structural anomaly of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group mesenteric lymph node abnormalities MPheno.ontology MP:0005232 abnormal mesenteric lymph node morphology MP:0005232 any structural anomaly of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group ISBN:0-683-40008-8 true MP:0005233 true MP:0005234 OBSOLETE. any structural anomaly of any of the set of nerve fibers conducting impulses from olfactory receptors to the cerebral cortex, including the olfactory nerve; olfactory bulb; olfactory tract, olfactory tubercle, anterior perforated substance, and olfactory cortex abnormal olfactory pathways MPheno.ontology MP:0005235 obsolete abnormal olfactory pathway morphology true MP:0005235 OBSOLETE. any structural anomaly of any of the set of nerve fibers conducting impulses from olfactory receptors to the cerebral cortex, including the olfactory nerve; olfactory bulb; olfactory tract, olfactory tubercle, anterior perforated substance, and olfactory cortex MESH:A08.186.211.464.699 any structural anomaly of the first cranial nerve, which conveys the sense of smell MP:0001057 olfactory nerve abnormalities abnormal CN-I morphology olfactory nerve dysplasia MPheno.ontology MP:0005236 abnormal olfactory nerve morphology MP:0005236 any structural anomaly of the first cranial nerve, which conveys the sense of smell MESH:A08.800.800.120.640 any structural anomaly of the nerve-like, white band composed primarily of nerve fibers originating from the mitral cells and tufted cells of the olfactory bulb, but also containing the scattered cells of the anterior olfactory nucleus MA:0000975 abnormal olfactory tract MPheno.ontology MP:0005237 abnormal olfactory tract morphology MP:0005237 any structural anomaly of the nerve-like, white band composed primarily of nerve fibers originating from the mitral cells and tufted cells of the olfactory bulb, but also containing the scattered cells of the anterior olfactory nucleus ISBN:0-683-40008-8 larger than the normal physical proportions of the brain MP:0000773 enlarged brain larger brain size macrencephaly macroencephaly megalencephaly megaloencephaly MPheno.ontology MP:0005238 increased brain size MP:0005238 larger than the normal physical proportions of the brain MGI:cwg any structural anomaly of the transparent, nearly structureless inner layer of the choroid in contact with the pigmented layer of the retina Bruch's membrane abnormalities Henle membrane abnormalities basal lamina of the choroid abnormalities basal layer of the choroid abnormalities lamina basalis choroidae abnormalities lamina vitrea abnormalities vitreous lamella abnormalities MPheno.ontology MP:0005239 abnormal Bruch membrane morphology MP:0005239 any structural anomaly of the transparent, nearly structureless inner layer of the choroid in contact with the pigmented layer of the retina ISBN:0-683-40008-8 any structural anomaly of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer abnormal amacrine cells abnormal amacrine neuron morphology MPheno.ontology MP:0005240 abnormal amacrine cell morphology MP:0005240 any structural anomaly of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer MESH:A08.663.358.050 any structural anomaly of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain abnormal retina GCL morphology abnormal retinal GCL morphology abnormal retinal ganglion cell layer abnormal retinal ganglion layer morphology MPheno.ontology MP:0005241 abnormal retina ganglion layer morphology MP:0005241 any structural anomaly of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain ISBN:0-914294-08-3 congenital anomaly in which the skin is continuous over the eyeball without any indication of the formation of eyelids MPheno.ontology MP:0005242 cryptophthalmos MP:0005242 congenital anomaly in which the skin is continuous over the eyeball without any indication of the formation of eyelids ISBN:0-683-40008-8 bleeding into the pleural space haematothorax haemothorax hematothorax MPheno.ontology MP:0005243 hemothorax MP:0005243 bleeding into the pleural space ISBN:0-397-51047-0 bleeding into the pericardial space MP:0000289 blood in pericardial cavity haemopericardium haemorrhagic pericardial effusion hemorrhagic pericardial effusion pericardial haemorrhage pericardial hemorrhage MPheno.ontology MP:0005244 hemopericardium MP:0005244 bleeding into the pericardial space ISBN:0-397-51047-0 bleeding into a joint space haemarthrosis MPheno.ontology MP:0005245 hemarthrosis MP:0005245 bleeding into a joint space ISBN:0-397-51047-0 true MP:0005246 any structural anomaly of any of the striated muscles that are located within the orbit but are extrinsic and separate from the eyeball itself and control the movements of the eyeball and the superior eyelid; there are seven extraocular muscles: superior rectus, inferior rectus, medial rectus, lateral rectus, inferior oblique, superior oblique, and levator palpebrae superioris http://teachmeanatomy.info/head/organs/eye/extraocular-muscles/ https://en.wikipedia.org/wiki/Extraocular_muscles abnormal extra-ocular muscle morphology MPheno.ontology MP:0005247 abnormal extraocular muscle morphology MP:0005247 any structural anomaly of any of the striated muscles that are located within the orbit but are extrinsic and separate from the eyeball itself and control the movements of the eyeball and the superior eyelid; there are seven extraocular muscles: superior rectus, inferior rectus, medial rectus, lateral rectus, inferior oblique, superior oblique, and levator palpebrae superioris MGI:cwg any structural anomaly of the retroocular sebaceous gland found within the orbit of mammals that possess a nictitating membrane (third eyelid); the chief products of the gland vary between different groups of vertebrates, and epithelial cells possess granules or vacuoles whose contents may be mucous, serous or lipid; in rodents, the Harderian gland is especially large and secretes lipids (by a merocrine mechanism), melatonin and porphyrins; ascribed functions include a role in lubrication and protection for the eyeball and nictitating membrane (by lipids), photoprotection (by porphyrin), photoreception (by regulation of the incidence of light on the retina), and thermoregulation (in some rodents) of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane Harderian gland abnormalities Harderian gland dysplasia MPheno.ontology MP:0005248 The Harderian gland does not normally exist in some types of mammals (bats, cows and horses), terrestrial carnivores, and higher primates including human. abnormal Harderian gland morphology MP:0005248 any structural anomaly of the retroocular sebaceous gland found within the orbit of mammals that possess a nictitating membrane (third eyelid); the chief products of the gland vary between different groups of vertebrates, and epithelial cells possess granules or vacuoles whose contents may be mucous, serous or lipid; in rodents, the Harderian gland is especially large and secretes lipids (by a merocrine mechanism), melatonin and porphyrins; ascribed functions include a role in lubrication and protection for the eyeball and nictitating membrane (by lipids), photoprotection (by porphyrin), photoreception (by regulation of the incidence of light on the retina), and thermoregulation (in some rodents) of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane ISBN:0486631850 PMID:8843648 any structural anomaly of either of two irregularly L-shaped bones located posterior to the maxilla that in part forms the back of the hard palate, part of the nasal cavity and part of the floor of the orbits abnormal palatinium bone MPheno.ontology MP:0005249 abnormal palatine bone morphology MP:0005249 any structural anomaly of either of two irregularly L-shaped bones located posterior to the maxilla that in part forms the back of the hard palate, part of the nasal cavity and part of the floor of the orbits ISBN:0-683-40008-8 decreased number of the supporting cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis decreased sertoli cell number reduced Sertoli cell number reduced sertoli cell number Sertoli cell hypoplasia MPheno.ontology MP:0005250 decreased Sertoli cell number MP:0005250 decreased number of the supporting cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis ISBN:0-683-40008-8 inflammation of the eyelids eye lid inflammation inflamed eyelids palpebritis MPheno.ontology MP:0005251 blepharitis MP:0005251 inflammation of the eyelids MESH:C11.338.133 any structural anomaly of the sebaceous glands embedded in the tarsal plate of each eyelid meibomian gland dysplasia MPheno.ontology abnormal tarsal gland MP:0005252 abnormal Meibomian gland morphology MP:0005252 any structural anomaly of the sebaceous glands embedded in the tarsal plate of each eyelid ISBN:0-683-40008-8 any functional anomaly and/or activity of the spheroid organ and optic nerve that serves to detect light MPheno.ontology MP:0005253 abnormal eye physiology MP:0005253 any functional anomaly and/or activity of the spheroid organ and optic nerve that serves to detect light ISBN:0-683-40008-8 misalignment of the visual axes of the eyes MPheno.ontology MP:0005254 strabismus MP:0005254 misalignment of the visual axes of the eyes MESH:C10.292.562.887 a form of ocular misalignment in which the lateral rectus muscle pulls the eye in an outward direction MPheno.ontology MP:0005255 exotropia MP:0005255 a form of ocular misalignment in which the lateral rectus muscle pulls the eye in an outward direction MESH:C10.292.562.887.650 a form of ocular misalignment in which there is excessive convergence of the visual axes, giving a cross-eyed appearance cross eyed MPheno.ontology MP:0005256 esotropia MP:0005256 a form of ocular misalignment in which there is excessive convergence of the visual axes, giving a cross-eyed appearance MESH:C11.590.810.400 anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye MPheno.ontology MP:0005257 abnormal intraocular pressure MP:0005257 anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye ISBN:0-683-40008-8 abnormal elevation of the intraocular pressure MP:0005259 MPheno.ontology MP:0005258 ocular hypertension MP:0005258 abnormal elevation of the intraocular pressure MESH:C11.525 true MP:0005259 abnormally low intraocular pressure MPheno.ontology MP:0005260 ocular hypotension MP:0005260 abnormally low intraocular pressure MESH:C11.540 abnormality in which there is only a rudimentary iris, due to the failure of optic cup growth MPheno.ontology MP:0005261 aniridia MP:0005261 abnormality in which there is only a rudimentary iris, due to the failure of optic cup growth MESH:C11.250.060 anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation Fyler:4311 MPheno.ontology MP:0005262 coloboma MP:0005262 anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation MESH:C11.250.110 OBSOLETE. congenital displacement of the lens due to defective zonule formation MP:0031428 ectopic lens lens displacement MPheno.ontology MP:0005263 obsolete ectopia lentis true MP:0005263 OBSOLETE. congenital displacement of the lens due to defective zonule formation MESH:C11.250.300 hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes glomerular sclerosis MPheno.ontology MP:0005264 glomerulosclerosis MP:0005264 hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes ISBN:0-683-40008-8 aberrant circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function abnormal BUN abnormal blood urea nitrogen MPheno.ontology MP:0005265 abnormal blood urea nitrogen level MP:0005265 aberrant circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function ISBN:0-683-40008-8 any anomaly in the processes that cause many of the chemical changes in living organisms, including anabolism and catabolism; metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation abnormal metabolic process metabolic abnormalities MPheno.ontology MP:0005266 abnormal metabolism MP:0005266 any anomaly in the processes that cause many of the chemical changes in living organisms, including anabolism and catabolism; metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation GO:0008152 any structural anomaly of cortex area which receives its major afferents from the olfactory bulb, and is primarily responsible for the identification of odors MA:0000193 olfactory cortex dysplasia MPheno.ontology MP:0005267 abnormal olfactory cortex morphology MP:0005267 any structural anomaly of cortex area which receives its major afferents from the olfactory bulb, and is primarily responsible for the identification of odors ISBN:0-683-40008-8 true MP:0005268 any structural anomaly of the bone at the lower, posterior part of the skull occipital bone dysplasia MPheno.ontology MP:0005269 The basioccipital, exoccipital and supraoccipital bones are distinct bones in prenatal, neonatal and some early juvenile stages in most mammals. In adult organisms, these structures are fused to form the unified adult occipital bone. This term refers to the adult mammalian structure. abnormal occipital bone morphology MP:0005269 any structural anomaly of the bone at the lower, posterior part of the skull ISBN:0-683-40008-8 any structural anomaly of the quadrilateral bone that forms the prominence of the cheek abnormal cheek bone morphology abnormal jugal bone morphology abnormal malar bone morphology abnormal yoke bone morphology zygomatic bone dysplasia MPheno.ontology MP:0005270 abnormal zygomatic bone morphology MP:0005270 any structural anomaly of the quadrilateral bone that forms the prominence of the cheek ISBN:0-683-40008-8 any structural anomaly of the irregularly thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla lacrimal bone dysplasia MPheno.ontology MP:0005271 abnormal lacrimal bone morphology MP:0005271 any structural anomaly of the irregularly thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla ISBN:0-683-40008-8 any structural anomaly of the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous abnormal squamosal bone morphology temporal bone dysplasia MPheno.ontology MP:0005272 abnormal temporal bone morphology MP:0005272 any structural anomaly of the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous ISBN:0-683-40008-8 true MP:0005273 any structural anomaly of the part of the skull that comprises the facial bones abnormal facial bones morphology viscerocranium dysplasia MPheno.ontology MP:0005274 abnormal viscerocranium morphology MP:0005274 any structural anomaly of the part of the skull that comprises the facial bones ISBN:0-683-40008-8 change from the normal maximum tension the skin can withstand without tearing MPheno.ontology MP:0005275 abnormal skin tensile strength MP:0005275 change from the normal maximum tension the skin can withstand without tearing ISBN:0-683-40008-8 true MP:0005276 any structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord abnormal brain stem morphology abnormal truncus encephali morphology brainstem dysplasia MPheno.ontology MP:0005277 abnormal brainstem morphology MP:0005277 any structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord https://orcid.org/0000-0002-6490-7723 anomaly in the processes involved in the maintenance of an internal equilibrium of cholesterol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues MPheno.ontology MP:0005278 abnormal cholesterol homeostasis MP:0005278 anomaly in the processes involved in the maintenance of an internal equilibrium of cholesterol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues GO:0042632 https://orcid.org/0000-0003-3691-0324 recurring episodes of sleep during normal waking hours and often disrupted sleep during normal sleeping period; often accompanied by cataplexy, sleep paralysis and hallucinations MPheno.ontology MP:0005279 narcolepsy MP:0005279 recurring episodes of sleep during normal waking hours and often disrupted sleep during normal sleeping period; often accompanied by cataplexy, sleep paralysis and hallucinations ISBN:0-683-40008-8 any anomaly in the concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated abnormal fatty acid level MPheno.ontology MP:0005280 abnormal fatty acids level MP:0005280 any anomaly in the concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated CHEBI:24024 elevated concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated elevated fatty acid level increased fatty acid level MPheno.ontology MP:0005281 increased fatty acids level MP:0005281 elevated concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated CHEBI:24024 reduction in the concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated decreased fatty acid level lowered fatty acid level reduced fatty acid level MPheno.ontology MP:0005282 decreased fatty acids level MP:0005282 reduction in the concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated CHEBI:24024 elevated concentration of unsaturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; unsaturated fatty acids commonly have a chain of 4 to 28 carbons which possess one or more double or triple bonds between carbon atoms elevated unsaturated fatty acid level increased unsaturated fatty acid level MPheno.ontology MP:0005283 increased unsaturated fatty acids level MP:0005283 elevated concentration of unsaturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; unsaturated fatty acids commonly have a chain of 4 to 28 carbons which possess one or more double or triple bonds between carbon atoms CHEBI:24024 ISBN:0-683-40008-8 elevated concentration of saturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; saturated fatty acids commonly have a chain of 4 to 28 carbons which contains no ethylenic or other unsaturated linkages between carbon atoms elevated saturated fatty acid level increased saturated fatty acid level MPheno.ontology MP:0005284 increased saturated fatty acids level MP:0005284 elevated concentration of saturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; saturated fatty acids commonly have a chain of 4 to 28 carbons which contains no ethylenic or other unsaturated linkages between carbon atoms CHEBI:24024 ISBN:0-683-40008-8 reduced concentration of unsaturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; unsaturated fatty acids commonly have a chain of 4 to 28 carbons which possess one or more double or triple bonds between carbon atoms decreased unsaturated fatty acid level lowered unsaturated fatty acid level reduced unsaturated fatty acid level MPheno.ontology MP:0005285 decreased unsaturated fatty acids level MP:0005285 reduced concentration of unsaturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; unsaturated fatty acids commonly have a chain of 4 to 28 carbons which possess one or more double or triple bonds between carbon atoms CHEBI:24024 ISBN:0-683-40008-8 reduced concentration of saturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; saturated fatty acids commonly have a chain of 4 to 28 carbons which contains no ethylenic or other unsaturated linkages between carbon atoms decreased saturated fatty acid level lowered saturated fatty acid level reduced saturated fatty acid level MPheno.ontology MP:0005286 decreased saturated fatty acids level MP:0005286 reduced concentration of saturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; saturated fatty acids commonly have a chain of 4 to 28 carbons which contains no ethylenic or other unsaturated linkages between carbon atoms CHEBI:24024 ISBN:0-683-40008-8 less than the normal distance from one eyelid to the other without fusion of the eyelid margins blepharostenosis closer eyelid folds closer roots of eyelids narrow palpebral fissure reduced palpebral fissure size slit eyes small eyelid aperture blepharophimosis MPheno.ontology MP:0005287 narrow eye opening MP:0005287 less than the normal distance from one eyelid to the other without fusion of the eyelid margins MGI:cwg blepharophimosis https://eyewiki.org/Blepharophimosis_Syndrome deviation from the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body MPheno.ontology MP:0005288 abnormal oxygen consumption MP:0005288 deviation from the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body MESH:G06.535.723 greater than the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body MPheno.ontology MP:0005289 increased oxygen consumption MP:0005289 greater than the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body MESH:G06.535.723 less than the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body reduced oxygen consumption MPheno.ontology MP:0005290 decreased oxygen consumption MP:0005290 less than the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body MESH:G06.535.723 deviation from the normal response to oral consumption or intravenous injection of specified amounts of glucose; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals MPheno.ontology MP:0005291 abnormal glucose tolerance MP:0005291 deviation from the normal response to oral consumption or intravenous injection of specified amounts of glucose; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals MESH:C18.452.394.952.500 better than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin sensitivity; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals increased glucose tolerance MPheno.ontology increased glucose clearance MP:0005292 improved glucose tolerance MP:0005292 better than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin sensitivity; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals MESH:C18.452.394.952.500 less than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin resistance; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals glucose intolerance poor glucose tolerance reduced glucose tolerance MPheno.ontology MP:0005293 impaired glucose tolerance MP:0005293 less than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin resistance; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals MESH:C18.452.394.952.500 any structural anomaly of one or both of the two lower chambers of the heart ventricular dysplasia heart ventricle dysplasia MPheno.ontology MP:0005294 abnormal heart ventricle morphology MP:0005294 any structural anomaly of one or both of the two lower chambers of the heart MESH:A07.541.560 MGI:cwg true MP:0005295 any structural anomaly of the bone of the forelimb that articulates with the scapula above and the radius and ulna below humerus dysplasia MPheno.ontology MP:0005296 abnormal humerus morphology MP:0005296 any structural anomaly of the bone of the forelimb that articulates with the scapula above and the radius and ulna below ISBN:0-683-40008-8 defective closure of the laminae of the vertebral column in the lumbosacral region without hernial protrusion of the spinal cord or meninges; the mildest, most common and often asymptomatic form of spina bifida, identified externally by a skin depression or dimple, dark tufts of hair, telangiectasis, or soft subcutaneous lipomas at the site of defect closed spinal bifida cryptomerorrhachischis hidden spina bifida occult spina bifida MPheno.ontology MP:0005297 spina bifida occulta MP:0005297 defective closure of the laminae of the vertebral column in the lumbosacral region without hernial protrusion of the spinal cord or meninges; the mildest, most common and often asymptomatic form of spina bifida, identified externally by a skin depression or dimple, dark tufts of hair, telangiectasis, or soft subcutaneous lipomas at the site of defect https://orcid.org/0000-0002-6490-7723 any structural anomaly of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula abnormal collar bone morphology clavicle dysplasia MPheno.ontology MP:0005298 abnormal clavicle morphology MP:0005298 any structural anomaly of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula ISBN:0-683-40008-8 any structural anomaly of the ring-like space, filled with aqueous humor, between the iris/pupil anteriorly and the lens and ciliary body posteriorly eye posterior chamber abnormalities MPheno.ontology MP:0005299 abnormal eye posterior chamber morphology MP:0005299 any structural anomaly of the ring-like space, filled with aqueous humor, between the iris/pupil anteriorly and the lens and ciliary body posteriorly ISBN:0-683-40008-8 any structural anomaly of the lamellated connective tissue of the cornea between the Bowman and Descemet membranes abnormal corneal stroma morphology MPheno.ontology MP:0005300 abnormal cornea stroma morphology MP:0005300 any structural anomaly of the lamellated connective tissue of the cornea between the Bowman and Descemet membranes ISBN:0-683-40008-8 MESH:A09.371.060.217.228 any structural anomaly of the single layer of large flattened cells that cover the surface of the cornea abnormal corneal endothelium morphology MPheno.ontology MP:0005301 abnormal cornea endothelium morphology MP:0005301 any structural anomaly of the single layer of large flattened cells that cover the surface of the cornea MESH:A09.371.060.067.318 defective functioning of the bladder due to impaired innervation, either within the CNS or the PNS neuropathic bladder MPheno.ontology MP:0005302 neurogenic bladder MP:0005302 defective functioning of the bladder due to impaired innervation, either within the CNS or the PNS ISBN:0-683-40008-8 true MP:0005303 presence of one or more membrane-lined sacs containing gas, fluid, or semisolid matter in the bulbourethral gland Cowper gland cyst Cowper gland cysts bulbourethral gland cysts cystic Cowper's gland cystic Mery gland cystic bulbo-urethral gland cystic bulbourethral gland MPheno.ontology MP:0005304 bulbourethral gland cyst MP:0005304 presence of one or more membrane-lined sacs containing gas, fluid, or semisolid matter in the bulbourethral gland ISBN:0-683-40008-8 increase in the number of normal cells in normal arrangement in the prostate gland anterior lobe, typically resulting in increased size AP hyperplasia CG hyperplasia anterior prostate hyperplasia coagulating gland hyperplasia hyperplastic anterior prostate lobe hyperplastic coagulating gland hyperplastic prostate gland anterior lobe MPheno.ontology MP:0005305 prostate gland anterior lobe hyperplasia MP:0005305 increase in the number of normal cells in normal arrangement in the prostate gland anterior lobe, typically resulting in increased size ISBN:0-683-40008-8 any structural anomaly of any of the long bones of the digits abnormal phalanges morphology abnormal phalanxes morphology phalanges dysplasia MPheno.ontology MP:0005306 abnormal phalanx morphology MP:0005306 any structural anomaly of any of the long bones of the digits ISBN:0-683-40008-8 repetitive flailing of the head in multiple directions MPheno.ontology MP:0005307 head tossing MP:0005307 repetitive flailing of the head in multiple directions https://orcid.org/0000-0003-3691-0324 aberrant amount of ammonia or its compounds in blood, formed in the body during organic decomposition abnormal blood ammonia level MPheno.ontology MP:0005308 abnormal circulating ammonia level MP:0005308 aberrant amount of ammonia or its compounds in blood, formed in the body during organic decomposition ISBN:0-683-40008-8 significantly elevated levels of ammonia or its compounds in blood; often associated with liver failure and hepatic encephalopathy hyperammonaemia hyperammonemia increased blood ammonia level MPheno.ontology increased ammonia concentration MP:0005309 increased circulating ammonia level MP:0005309 significantly elevated levels of ammonia or its compounds in blood; often associated with liver failure and hepatic encephalopathy ISBN:0-683-40008-8 any functional anomaly of any of the glands in the mouth that secrete saliva abnormal salivary gland function MPheno.ontology MP:0005310 abnormal salivary gland physiology MP:0005310 any functional anomaly of any of the glands in the mouth that secrete saliva MESH:A03.556.500.760 any anomaly in the amount in the blood of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group abnormal blood amino acid level MPheno.ontology MP:0005311 abnormal circulating amino acid level MP:0005311 any anomaly in the amount in the blood of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group CHEBI:33709 escape of fluid from blood vessels or lymphatic vessels into the fibrous sac surrounding the heart Fyler:1940 dropsy of pericardium MPheno.ontology MP:0005312 pericardial effusion MP:0005312 escape of fluid from blood vessels or lymphatic vessels into the fibrous sac surrounding the heart ISBN:0-683-40008-8 absence of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla absence of adrenal glands MPheno.ontology MP:0005313 absent adrenal gland MP:0005313 absence of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla ISBN:0-683-40008-8 lack of the endocrine gland that is normally located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin absence of thyroid gland MPheno.ontology MP:0005314 absent thyroid gland MP:0005314 lack of the endocrine gland that is normally located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin ISBN:0-683-40008-8 lack of the gland that is normally suspended from the base of the hypothalamus and which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin absence of pituitary gland MPheno.ontology MP:0005315 absent pituitary gland MP:0005315 lack of the gland that is normally suspended from the base of the hypothalamus and which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin ISBN:0-683-40008-8 anomaly in the reflex action normally induced by touch or pain abnormal tactile reflex MPheno.ontology MP:0005316 abnormal response to tactile stimuli MP:0005316 anomaly in the reflex action normally induced by touch or pain https://orcid.org/0000-0003-3691-0324 greater concentration of naturally occurring esters of three fatty acids and glycerol; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver elevated triglyceride level MPheno.ontology MP:0005317 increased triglyceride level MP:0005317 greater concentration of naturally occurring esters of three fatty acids and glycerol; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver https://orcid.org/0000-0003-3691-0324 reduced concentration of naturally occurring esters of three fatty acids and glycerol; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver low triglyceride level reduced triglyceride level MPheno.ontology MP:0005318 decreased triglyceride level MP:0005318 reduced concentration of naturally occurring esters of three fatty acids and glycerol; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver https://orcid.org/0000-0003-3691-0324 altered level of any enzyme or their cofactors, that act as catalysts to induce chemical changes in other substances MPheno.ontology MP:0005319 abnormal enzyme/coenzyme level MP:0005319 altered level of any enzyme or their cofactors, that act as catalysts to induce chemical changes in other substances ISBN:0-683-40008-8 anomaly in the concentration of this pterin found in yeast, the fruit fly and in normal human urine, the reduced form of which acts as a coenzyme for many enzymatic reactions MPheno.ontology MP:0005320 abnormal biopterin level MP:0005320 anomaly in the concentration of this pterin found in yeast, the fruit fly and in normal human urine, the reduced form of which acts as a coenzyme for many enzymatic reactions ISBN:0-683-40008-8 MESH:D03.438.733.631.202 anomaly in the concentration of a pteridine derivative, which is present in body fluids and is a precursor in the biosynthesis of biopterin; elevated levels result from immune activation, malignant disease, allograft rejection, and viral infection MPheno.ontology MP:0005321 abnormal neopterin level MP:0005321 anomaly in the concentration of a pteridine derivative, which is present in body fluids and is a precursor in the biosynthesis of biopterin; elevated levels result from immune activation, malignant disease, allograft rejection, and viral infection ISBN:0-683-40008-8 MESH:D03.438.733.631.202.500 anomaly in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity abnormal 5-HT level abnormal 5-hydroxytryptamine level abnormal enteramine level abnormal hippophaine level abnormal hydroxytryptamine level MPheno.ontology abnormal serotonin concentration MP:0005322 abnormal serotonin level MP:0005322 anomaly in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity ISBN:0-683-40008-8 MESH:D02.092.211.215.801.852 impairment of muscle tone resulting in prolonged muscle contraction and involuntary movements such as repetitive movements, or twisting or writhing of the limbs MPheno.ontology MP:0005323 dystonia MP:0005323 impairment of muscle tone resulting in prolonged muscle contraction and involuntary movements such as repetitive movements, or twisting or writhing of the limbs J:84533 accumulation or retention of fluid within the peritoneal cavity abdominal effusion peritoneal effusion MPheno.ontology MP:0005324 ascites MP:0005324 accumulation or retention of fluid within the peritoneal cavity ISBN:0-683-40008-8 https://www.asbestos.com/mesothelioma/peritoneal-effusion/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7152461/ peritoneal effusion https://mesothelioma.net/peritoneal-effusion-ascites/ any structural anomaly of the tuft formed of capillary loops and mesangium at the beginning of each nephretic tubule in the kidney that normally function as a filtration unit abnormal glomerular tuft morphology abnormal glomeruli morphology abnormal kidney glomerulus morphology abnormal malpighian glomerulus morphology abnormal malpighian tuft morphology MPheno.ontology MP:0005325 abnormal renal glomerulus morphology MP:0005325 any structural anomaly of the tuft formed of capillary loops and mesangium at the beginning of each nephretic tubule in the kidney that normally function as a filtration unit ISBN:0-683-40008-8 any structural anomaly of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane abnormal glomerular epithelial cells abnormal podocytes abnormal visceral epithelial cell MPheno.ontology MP:0005326 abnormal podocyte morphology MP:0005326 any structural anomaly of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the modified smooth muscle cells that are interposed between endothelial cells and the basement membrane in the central or stalk region of the capillary tuft of the renal glomerulus, which regulate blood flow by their contractile activity, and secrete extracellular matrix, prostaglandins, and cytokines; mesangial cells also have phagocytic activity, removing proteins and other molecules trapped in the glomerular basement membrane or filtration barrier abnormal deep cell abnormal intercapillary cell abnormal intraglomerular mesangial cell MPheno.ontology MP:0005327 abnormal mesangial cell morphology MP:0005327 any structural anomaly of the modified smooth muscle cells that are interposed between endothelial cells and the basement membrane in the central or stalk region of the capillary tuft of the renal glomerulus, which regulate blood flow by their contractile activity, and secrete extracellular matrix, prostaglandins, and cytokines; mesangial cells also have phagocytic activity, removing proteins and other molecules trapped in the glomerular basement membrane or filtration barrier ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 anomaly in the blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction abnormal blood creatinine level MPheno.ontology MP:0005328 abnormal circulating creatinine level MP:0005328 anomaly in the blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction ISBN:0-683-40008-8 any structural anomaly of the middle layer of the heart, comprised mainly of striated cardiac muscle fibers abnormal myocardium morphology myocardial dysplasia MPheno.ontology MP:0005329 Do not confuse cardiac muscle tissue with the myocardium. Myocardium consists primarily of cardiac muscle but these structures are not identical. abnormal myocardium layer morphology MP:0005329 any structural anomaly of the middle layer of the heart, comprised mainly of striated cardiac muscle fibers ISBN:0-683-40008-8 diseases of the heart (myocardium); may result from many causes Fyler:1840 MPheno.ontology MP:0005330 cardiomyopathy MP:0005330 diseases of the heart (myocardium); may result from many causes MESH:C14.280.238 MGI:cwg https://orcid.org/0000-0002-0371-1954 diminished effectiveness of insulin in lowering plasma glucose levels MPheno.ontology MP:0005331 insulin resistance MP:0005331 diminished effectiveness of insulin in lowering plasma glucose levels ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 any anomaly in the amount of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group MPheno.ontology MP:0005332 abnormal amino acid level MP:0005332 any anomaly in the amount of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group CHEBI:33709 fewer than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute bradycardia bradyrhythmia reduced heart rate MPheno.ontology MP:0005333 decreased heart rate MP:0005333 fewer than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute https://orcid.org/0000-0002-0371-1954 any structural anomaly of the encapsulated adipose tissue abnormal fat body morphology MPheno.ontology MP:0005334 abnormal fat pad morphology MP:0005334 any structural anomaly of the encapsulated adipose tissue MGI:cwg any structural anomaly of the encapsulated adipose tissue associated with the ovaries or testes abnormal gonadal fat depot morphology abnormal perigonadal fat pad morphology abnormal epigonadal fat pad morphology MPheno.ontology MP:0005335 abnormal gonadal fat pad morphology MP:0005335 any structural anomaly of the encapsulated adipose tissue associated with the ovaries or testes MGI:cwg abnormal epigonadal fat pad morphology PMID:33148396 PMID:34390703 any structural anomaly of the encapsulated adipose tissue found in the groin abnormal inguinal fat depot morphology MPheno.ontology MP:0005336 abnormal inguinal fat pad morphology MP:0005336 any structural anomaly of the encapsulated adipose tissue found in the groin MGI:cwg any structural anomaly of the encapsulated adipose tissue found on the dorsal side of the peritoneum abnormal retroperitoneal fat depot morphology MPheno.ontology MP:0005337 abnormal retroperitoneal fat pad morphology MP:0005337 any structural anomaly of the encapsulated adipose tissue found on the dorsal side of the peritoneum MGI:cwg thickening and loss of elasticity of arterial walls, involving plaque-like lipid deposition and thickening of intimal layers within arteries; progresses to narrowing of arterial lumens with fibrosis and calcification resulting in restriction of blood flow atherosclerosis MPheno.ontology MP:0005338 atherosclerotic lesions MP:0005338 thickening and loss of elasticity of arterial walls, involving plaque-like lipid deposition and thickening of intimal layers within arteries; progresses to narrowing of arterial lumens with fibrosis and calcification resulting in restriction of blood flow ISBN:0-683-40008-8 MESH:C14.907.137.126.307 more likely than normal to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries decreased resistance to atherosclerosis MPheno.ontology MP:0005339 increased susceptibility to atherosclerosis MP:0005339 more likely than normal to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries MGI:cwg a change in the likelihood that an organism will develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries abnormal resistance to atherosclerosis altered susceptibility to atherosclerosis MPheno.ontology MP:0005340 abnormal susceptibility to atherosclerosis MP:0005340 a change in the likelihood that an organism will develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries MGI:cwg less likely than normal to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries MP:0002701 increased resistance to atherosclerosis reduced susceptibility to atherosclerosis MPheno.ontology MP:0005341 decreased susceptibility to atherosclerosis MP:0005341 less likely than normal to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries MGI:cwg any anomaly in the ability of the body to take up lipids into the blood by absorption from the small intestine MPheno.ontology abnormal lipid absorption MP:0005342 abnormal intestinal lipid absorption MP:0005342 any anomaly in the ability of the body to take up lipids into the blood by absorption from the small intestine https://orcid.org/0000-0003-3691-0324 greater than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction elevated AST level elevated aspartate transaminase level increased AST level elevated circulating AAT level elevated circulating ASAT level elevated circulating SGOT level elevated circulating aspartate transaminase level elevated circulating serum glutamic oxaloacetic transaminase level increased circulating AAT level increased circulating ASAT level increased circulating SGOT level increased circulating aspartate aminotransferase level increased circulating serum glutamic oxaloacetic transaminase level MPheno.ontology MP:0005343 increased circulating aspartate transaminase level MP:0005343 greater than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 increased concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells elevated bilirubin level elevated circulating bilirubin level hyperbilirubinaemia hyperbilirubinemia MPheno.ontology MP:0005344 increased circulating bilirubin level MP:0005344 increased concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 anomaly in the amount of the adrenocortical steroid in the blood that induces glycogen deposition and regulates sodium conservation and potassium secretion abnormal serum level of corticosterone MPheno.ontology MP:0005345 abnormal circulating corticosterone level MP:0005345 anomaly in the amount of the adrenocortical steroid in the blood that induces glycogen deposition and regulates sodium conservation and potassium secretion ISBN:0-683-40008-8 MGI:cwg anomaly in the blood concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule abnormal serum level of aldosterone MPheno.ontology MP:0005346 abnormal circulating aldosterone level MP:0005346 anomaly in the blood concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule ISBN:0-683-40008-8 true MP:0005347 increase in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli T cell hyperproliferation T-cell hyperproliferation enhanced T cell proliferation enhanced T-cell proliferation increased T-cell proliferation MPheno.ontology MP:0005348 increased T cell proliferation MP:0005348 increase in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli ISBN:0-8153-1691-7 MGI:cwg OBSOLETE. functional anomaly of this soluble factor produced by B- and T-cells, with effects on T- and B-cell growth and differentiation, and in acute phase reactions MP:0008595 MP:0008704 abnormal IL-6 physiology MPheno.ontology MP:0005349 This term is obsolete. Instead, use the terms abnormal circulating interleukin-6 level (MP:0008595) and its children or abnormal interleukin-6 secretion (MP:0008704) and its children. obsolete abnormal interleukin-6 physiology true MP:0005349 OBSOLETE. functional anomaly of this soluble factor produced by B- and T-cells, with effects on T- and B-cell growth and differentiation, and in acute phase reactions ISBN:0-8153-1691-7 greater likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides decreased resistance to autoimmune disorder MPheno.ontology MP:0005350 increased susceptibility to autoimmune disorder MP:0005350 greater likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides MESH:C20.111 MGI:cwg reduced likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides increased resistance to autoimmune disorder reduced susceptibility to autoimmune disorder MPheno.ontology MP:0005351 decreased susceptibility to autoimmune disorder MP:0005351 reduced likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides MESH:C20.111 MGI:cwg reduced size of the cranium decreased skull size reduced skull size decreased cranium size reduced cranium size MPheno.ontology MP:0005352 small cranium MP:0005352 reduced size of the cranium MGI:cwg any structural anomaly of the large sesamoid bone that covers the anterior surface of the knee abnormal kneecap morphology patella dysplasia MPheno.ontology MP:0005353 abnormal patella morphology MP:0005353 any structural anomaly of the large sesamoid bone that covers the anterior surface of the knee ISBN:0-683-40008-8 MGI:cwg any structural anomaly of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis abnormal iliac bone morphology ilium dysplasia MPheno.ontology MP:0005354 abnormal ilium morphology MP:0005354 any structural anomaly of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis ISBN:0-683-40008-8 MGI:cwg increased size of the endocrine gland located in the front and to the sides of the upper part of the trachea, and which secretes thyroid hormone and calcitonin increased thyroid gland size goiter MPheno.ontology MP:0005355 enlarged thyroid gland MP:0005355 increased size of the endocrine gland located in the front and to the sides of the upper part of the trachea, and which secretes thyroid hormone and calcitonin ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 mice, when placed on a downward on a slanting grid, walk down without turning around, or exhibit a delay in turning around, whereas wild type mice will always turn around and walk upward absent negative geotaxis poor negative geotaxis MPheno.ontology MP:0005356 positive geotaxis MP:0005356 mice, when placed on a downward on a slanting grid, walk down without turning around, or exhibit a delay in turning around, whereas wild type mice will always turn around and walk upward PMID:12370287 https://orcid.org/0000-0003-3691-0324 when confronted with a novel stimulus, subjects exhibit involuntary backward walking MPheno.ontology MP:0005357 novel environmental response-related retropulsion MP:0005357 when confronted with a novel stimulus, subjects exhibit involuntary backward walking PMID:12370287 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the long teeth, normally consisting of two pairs, top and bottom, that are the most anterior and prominent in the jaw abnormal incisors morphology incisor dysplasia MPheno.ontology MP:0005358 abnormal incisor morphology MP:0005358 any structural anomaly of the long teeth, normally consisting of two pairs, top and bottom, that are the most anterior and prominent in the jaw MGI:llw2 developmental delay of the growth of the incisors, the long pointed teeth, most anterior and prominent in the jaw MPheno.ontology MP:0005359 growth retardation of incisors MP:0005359 developmental delay of the growth of the incisors, the long pointed teeth, most anterior and prominent in the jaw https://orcid.org/0000-0002-0371-1954 presence of calculi in any part of the urinary system MPheno.ontology MP:0005360 urolithiasis MP:0005360 presence of calculi in any part of the urinary system ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 reduced size of the pituitary gland, the compound gland suspended from the base of the hypothalamus decreased pituitary gland size reduced pituitary gland size MPheno.ontology MP:0005361 small pituitary gland MP:0005361 reduced size of the pituitary gland, the compound gland suspended from the base of the hypothalamus MGI:cwg atypical or failure of normal function of the stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus abnormal Langerhans cell function MPheno.ontology MP:0005362 abnormal Langerhans cell physiology MP:0005362 atypical or failure of normal function of the stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus CL:0000453 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 reduced likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is a major and necessary component MP:0003003 reduced susceptibility to prion infection resistance to prion infection MPheno.ontology MP:0005363 decreased susceptibility to prion infection MP:0005363 reduced likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is a major and necessary component MGI:cwg increased likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is a major and necessary component MP:0003004 decreased resistance to prion infection susceptibility to prion infection MPheno.ontology MP:0005364 increased susceptibility to prion infection MP:0005364 increased likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is a major and necessary component MGI:cwg anomaly in the processes involved in the maintenance of an internal equilibrium of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats MPheno.ontology abnormal bile acid homeostasis MP:0005365 abnormal bile salt homeostasis MP:0005365 anomaly in the processes involved in the maintenance of an internal equilibrium of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats MESH:D04.808.105 https://orcid.org/0000-0002-0371-1954 an irregular and random patchwork of two or more colors in the coat variegated coat colour MPheno.ontology MP:0005366 variegated coat color MP:0005366 an irregular and random patchwork of two or more colors in the coat MGI:llw2 the observable morphological and physiological characteristics of any of the organs or tissues responsible for fluid volume regulation, regulating electrolytes, maintaining acid-base homeostasis, and elimination of water and water soluble waste products in a mammalian organism that are manifested through development and lifespan MPheno.ontology MP:0005367 renal/urinary system phenotype MP:0005367 the observable morphological and physiological characteristics of any of the organs or tissues responsible for fluid volume regulation, regulating electrolytes, maintaining acid-base homeostasis, and elimination of water and water soluble waste products in a mammalian organism that are manifested through development and lifespan https://orcid.org/0000-0003-4606-0597 true MP:0005368 the observable morphological and physiological characteristics of the mammalian tissue composed of contractile cells or fibers that effects movement of an organ or part of the body that are manifested through development and lifespan MPheno.ontology MP:0005369 muscle phenotype MP:0005369 the observable morphological and physiological characteristics of the mammalian tissue composed of contractile cells or fibers that effects movement of an organ or part of the body that are manifested through development and lifespan VT:0005369 https://orcid.org/0000-0003-4606-0597 the observable morphological and physiological characteristics of the mammalian liver, gall bladder, or bile ducts that are manifested through development and lifespan hepatobiliary system phenotype MPheno.ontology MP:0005370 liver/biliary system phenotype MP:0005370 the observable morphological and physiological characteristics of the mammalian liver, gall bladder, or bile ducts that are manifested through development and lifespan https://orcid.org/0000-0003-4606-0597 the observable morphological and physiological characteristics of the subdivision of a mammalian organism that protrudes from the body that are manifested through development and lifespan MPheno.ontology MP:0005371 limbs/digits/tail phenotype MP:0005371 the observable morphological and physiological characteristics of the subdivision of a mammalian organism that protrudes from the body that are manifested through development and lifespan UBERON:0000026 https://orcid.org/0000-0003-4606-0597 true MP:0005372 true MP:0005373 true MP:0005374 the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan MPheno.ontology MP:0005375 adipose tissue phenotype MP:0005375 the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan https://orcid.org/0000-0003-3691-0324 the observable morphological and physiological characteristics related to a state of equilibrium in the body with respect to various functions and to chemical composition of the fluids and tissues or the processes that cause many of the chemical changes in living mammalian organisms that are manifested through development and lifespan MPheno.ontology MP:0005376 homeostasis/metabolism phenotype MP:0005376 the observable morphological and physiological characteristics related to a state of equilibrium in the body with respect to various functions and to chemical composition of the fluids and tissues or the processes that cause many of the chemical changes in living mammalian organisms that are manifested through development and lifespan https://orcid.org/0000-0003-4606-0597 the observable morphological and physiological characteristics of mammalian system responsible for the perception of spatial orientation and auditory stimuli that are manifested through development and lifespan MPheno.ontology MP:0005377 hearing/vestibular/ear phenotype MP:0005377 the observable morphological and physiological characteristics of mammalian system responsible for the perception of spatial orientation and auditory stimuli that are manifested through development and lifespan https://orcid.org/0000-0003-4606-0597 the observable morphological and physiological characteristics related to the overall or change in physical magnitude or an anatomical structure which is a subpart of the whole organism manifested in a mammalian organism through development and lifespan MPheno.ontology MP:0005378 growth/size/body region phenotype MP:0005378 the observable morphological and physiological characteristics related to the overall or change in physical magnitude or an anatomical structure which is a subpart of the whole organism manifested in a mammalian organism through development and lifespan https://orcid.org/0000-0003-4606-0597 the observable morphological and physiological characteristics of an organ that functions as a secretory or excretory organ in a mammalian organism that are manifested through development and lifespan MPheno.ontology MP:0005379 endocrine/exocrine gland phenotype MP:0005379 the observable morphological and physiological characteristics of an organ that functions as a secretory or excretory organ in a mammalian organism that are manifested through development and lifespan https://orcid.org/0000-0003-4606-0597 the observable morphological and physiological characteristics of the manifested in a mammalian organism before birth, including embryonic and fetal stages and embryonic and extraembryonic tissues MPheno.ontology MP:0005380 embryo phenotype MP:0005380 the observable morphological and physiological characteristics of the manifested in a mammalian organism before birth, including embryonic and fetal stages and embryonic and extraembryonic tissues https://orcid.org/0000-0003-4606-0597 the observable morphological and physiological characteristics of the mammalian system dedicated to the mechanical, chemical, and enzymatic processing of food that are manifested through development and lifespan MPheno.ontology MP:0005381 digestive/alimentary phenotype MP:0005381 the observable morphological and physiological characteristics of the mammalian system dedicated to the mechanical, chemical, and enzymatic processing of food that are manifested through development and lifespan https://orcid.org/0000-0003-4606-0597 the observable morphological and physiological characteristics of the face or head of a mammalian organism that are manifested through development and lifespan MPheno.ontology MP:0005382 craniofacial phenotype MP:0005382 the observable morphological and physiological characteristics of the face or head of a mammalian organism that are manifested through development and lifespan https://orcid.org/0000-0003-4606-0597 true MP:0005383 the observable morphological and physiological characteristics of the basic structural and functional unit of all mammalian organisms that are manifested through development and lifespan cell phenotype MPheno.ontology MP:0005384 cellular phenotype MP:0005384 the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan MPheno.ontology MP:0005385 cardiovascular system phenotype MP:0005385 the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan https://orcid.org/0000-0003-3691-0324 the observable actions or reactions of mammalian organisms that are manifested through development and lifespan MP:0001350 behaviour/neurological phenotype MPheno.ontology MP:0005386 behavior/neurological phenotype MP:0005386 the observable actions or reactions of mammalian organisms that are manifested through development and lifespan https://orcid.org/0000-0003-3691-0324 the observable morphological and physiological characteristics of the mammalian system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies that are manifested through development and lifespan MPheno.ontology MP:0005387 immune system phenotype MP:0005387 the observable morphological and physiological characteristics of the mammalian system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies that are manifested through development and lifespan https://orcid.org/0000-0003-4606-0597 the observable morphological and physiological characteristics of the mammalian system responsible for the exchange of oxygen and carbon dioxide with the environment that are manifested through development and lifespan MPheno.ontology MP:0005388 respiratory system phenotype MP:0005388 the observable morphological and physiological characteristics of the mammalian system responsible for the exchange of oxygen and carbon dioxide with the environment that are manifested through development and lifespan https://orcid.org/0000-0003-4606-0597 the observable morphological and physiological characteristics of the mammalian organs associated with producing offspring that are manifested through development and lifespan reproduction phenotype MPheno.ontology MP:0005389 reproductive system phenotype MP:0005389 the observable morphological and physiological characteristics of the mammalian organs associated with producing offspring that are manifested through development and lifespan https://orcid.org/0000-0003-4606-0597 the observable morphological and physiological characteristics of the bone, cartilage, teeth, tendons, ligaments and other associated tissues of the bony framework ot the body of a mammalian organism that are manifested through development and lifespan MPheno.ontology MP:0005390 skeleton phenotype MP:0005390 the observable morphological and physiological characteristics of the bone, cartilage, teeth, tendons, ligaments and other associated tissues of the bony framework ot the body of a mammalian organism that are manifested through development and lifespan https://orcid.org/0000-0003-4606-0597 the observable morphological and physiological characteristics of the mammalian spheroid organ and optic nerve that serve to detect light that are manifested through development and lifespan MPheno.ontology MP:0005391 vision/eye phenotype MP:0005391 the observable morphological and physiological characteristics of the mammalian spheroid organ and optic nerve that serve to detect light that are manifested through development and lifespan https://orcid.org/0000-0003-4606-0597 true MP:0005392 true MP:0005393 the observable morphological and physiological characteristics of the organs involved in and perception of taste and smell in a mammalian organism that are manifested through development and lifespan MPheno.ontology MP:0005394 taste/olfaction phenotype MP:0005394 the observable morphological and physiological characteristics of the organs involved in and perception of taste and smell in a mammalian organism that are manifested through development and lifespan https://orcid.org/0000-0003-4606-0597 MP:0000001 MPheno.ontology MP:0005395 Term was obsoleted because it it invalid. obsolete other phenotype true MP:0005395 true MP:0005396 the observable morphological and physiological characteristics of the mammalian blood cells or the organs associated with the development and formation of blood cells that are manifested through development and lifespan haematopoietic system phenotype haemopoietic system phenotype hemopoietic system phenotype MPheno.ontology MP:0005397 hematopoietic system phenotype MP:0005397 the observable morphological and physiological characteristics of the mammalian blood cells or the organs associated with the development and formation of blood cells that are manifested through development and lifespan https://orcid.org/0000-0003-4606-0597 reduced likelihood that an organism will develop ill effects from infection by a yeast or mold, or from components of, or toxins produced by, these organisms decreased susceptibility to mold infection decreased susceptibility to yeast infection increased resistance to fungal infection increased resistance to mold infection increased resistance to yeast infection reduced susceptibility to fungal infection MPheno.ontology MP:0005398 decreased susceptibility to fungal infection MP:0005398 reduced likelihood that an organism will develop ill effects from infection by a yeast or mold, or from components of, or toxins produced by, these organisms ISBN:0-683-40008-8 MGI:cwg greater likelihood that an organism will develop ill effects from infection by a yeast or mold, or from components of, or toxins produced by, these organisms decreased resistance to fungal infection decreased resistance to mold infection decreased resistance to yeast infection increased susceptibility to mold infection increased susceptibility to yeast infection MPheno.ontology MP:0005399 increased susceptibility to fungal infection MP:0005399 greater likelihood that an organism will develop ill effects from infection by a yeast or mold, or from components of, or toxins produced by, these organisms ISBN:0-683-40008-8 MGI:cwg any anomaly in the concentration of any of the organic substances found in food that are necessary in trace amounts for normal metabolic function MPheno.ontology MP:0005400 abnormal vitamin level MP:0005400 any anomaly in the concentration of any of the organic substances found in food that are necessary in trace amounts for normal metabolic function MESH:D27.505.696.377.605.600 MGI:cwg any anomaly in the concentration of any of the organic substances found in food that are necessary in trace amounts for normal metabolic function and which require the presence of lipids for assimilation in the body MPheno.ontology MP:0005401 abnormal fat-soluble vitamin level MP:0005401 any anomaly in the concentration of any of the organic substances found in food that are necessary in trace amounts for normal metabolic function and which require the presence of lipids for assimilation in the body MGI:cwg change in the electric response of a nerve or other excitable tissue to its stimulation MPheno.ontology MP:0005402 abnormal action potential MP:0005402 change in the electric response of a nerve or other excitable tissue to its stimulation https://orcid.org/0000-0003-3691-0324 anomaly in the act of transmitting electricity along a single nerve MPheno.ontology MP:0005403 abnormal nerve conduction MP:0005403 anomaly in the act of transmitting electricity along a single nerve ISBN:0-683-40008-8 MGI:cwg any structural anomaly of the single process of a nerve cell that normally conducts impulses away from the cell body abnormal nerve fiber morphology abnormal nerve fibre morphology abnormal axonal morphology MPheno.ontology MP:0005404 abnormal axon morphology MP:0005404 any structural anomaly of the single process of a nerve cell that normally conducts impulses away from the cell body ISBN:0-683-40008-8 retrogressive pathologic change in the single process of a nerve cell axonal degeneration MPheno.ontology MP:0005405 axon degeneration MP:0005405 retrogressive pathologic change in the single process of a nerve cell ISBN:0-683-40008-8 change from normal in the physical magnitude of the cardiac muscle or any of its component structures MPheno.ontology MP:0005406 abnormal heart size MP:0005406 change from normal in the physical magnitude of the cardiac muscle or any of its component structures MGI:cwg increased sensitivity to painful stimuli; can be due to inflammatory response or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area) decreased pain threshold MPheno.ontology MP:0005407 hyperalgesia MP:0005407 increased sensitivity to painful stimuli; can be due to inflammatory response or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area) MESH:C10.597.751.791.400 dilution of pigment in any or all tissues or a part of a tissue MPheno.ontology MP:0005408 hypopigmentation MP:0005408 dilution of pigment in any or all tissues or a part of a tissue MGI:llw2 amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is decreased when compared to wild-type agouti darkened coat colour mahogany coat color mahogany coat colour MPheno.ontology MP:0005409 darkened coat color MP:0005409 amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is decreased when compared to wild-type agouti MGI:llw2 anomaly in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei MPheno.ontology MP:0005410 abnormal fertilization MP:0005410 anomaly in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei ISBN:0-683-40008-8 MGI:cwg a lag in the normal time of onset of the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei MPheno.ontology MP:0005411 delayed fertilization MP:0005411 a lag in the normal time of onset of the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei ISBN:0-683-40008-8 MGI:cwg abnormal narrowing or constriction of the lumen of one or more blood vessels MPheno.ontology MP:0005412 vascular stenosis MP:0005412 abnormal narrowing or constriction of the lumen of one or more blood vessels ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 recurrence of a narrowing or constriction of a blood vessel following surgical or mechanical removal or reduction of a previous narrowing MPheno.ontology MP:0005413 vascular restenosis MP:0005413 recurrence of a narrowing or constriction of a blood vessel following surgical or mechanical removal or reduction of a previous narrowing ISBN:0-683-40008-8 impairment of bile flow in the large bile ducts by mechanical obstruction or stricture due to benign or malignant process extrahepatic bile duct obstruction extrahepatic bile stasis extrahepatic biliary stasis MPheno.ontology MP:0005414 extrahepatic cholestasis MP:0005414 impairment of bile flow in the large bile ducts by mechanical obstruction or stricture due to benign or malignant process MESH:C06.130.120.135.150 impairment of bile flow due to injury to the hepatocytes, bile canaliculi, or the intrahepatic bile ducts intrahepatic bile duct obstruction intrahepatic bile stasis intrahepatic biliary stasis MPheno.ontology MP:0005415 intrahepatic cholestasis MP:0005415 impairment of bile flow due to injury to the hepatocytes, bile canaliculi, or the intrahepatic bile ducts MESH:C06.130.120.135.250 anomaly in the amount in the blood of any of the macromolecules consisting of long chains of amino acids in peptide linkage abnormal blood protein level MPheno.ontology MP:0005416 abnormal circulating protein level MP:0005416 anomaly in the amount in the blood of any of the macromolecules consisting of long chains of amino acids in peptide linkage ISBN:0-683-40008-8 MGI:cwg true MP:0005417 any anomaly in the blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs; originally applied to substances secreted by various endocrine glands and transported in the bloodstream to the target organs, it is sometimes extended to include substances that are not produced by the endocrine glands but that have similar effects MPheno.ontology MP:0005418 abnormal circulating hormone level MP:0005418 any anomaly in the blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs; originally applied to substances secreted by various endocrine glands and transported in the bloodstream to the target organs, it is sometimes extended to include substances that are not produced by the endocrine glands but that have similar effects MESH:D06.472 MGI:cwg blood serum albumin concentration below the normal range hypoalbuminaemia hypoalbuminemia reduced circulating serum albumin level MPheno.ontology MP:0005419 decreased circulating serum albumin level MP:0005419 blood serum albumin concentration below the normal range https://orcid.org/0000-0003-3691-0324 true MP:0005420 condition in which the skin hangs in folds cutis laxa MPheno.ontology MP:0005421 loose skin MP:0005421 condition in which the skin hangs in folds ISBN:0-683-40008-8 abnormal hardening or eburnation (change in exposed subchondral bone in degenerative joint disease in which bone is converted into a dense substance with a smooth surface) of bone bone sclerosis MPheno.ontology MP:0005422 osteosclerosis MP:0005422 abnormal hardening or eburnation (change in exposed subchondral bone in degenerative joint disease in which bone is converted into a dense substance with a smooth surface) of bone ISBN:0-683-40008-8 MGI:cml any functional anomaly of the part of the peripheral nervous system that is responsible for conveying voluntary motor and external sensory information, including all nerves controlling the skeletal muscular system and external sensory receptors (including balance, smell, sight, taste, touch and hearing sensory inputs) MPheno.ontology MP:0005423 abnormal somatic nervous system physiology MP:0005423 any functional anomaly of the part of the peripheral nervous system that is responsible for conveying voluntary motor and external sensory information, including all nerves controlling the skeletal muscular system and external sensory receptors (including balance, smell, sight, taste, touch and hearing sensory inputs) https://orcid.org/0000-0003-3691-0324 continuous, abrupt, faltering motions of the whole body or a portion of the body choreic movement twitching waltzing MPheno.ontology MP:0005424 jerky movement MP:0005424 continuous, abrupt, faltering motions of the whole body or a portion of the body MGI:llw2 greater than the normal numbers of macrophages increased macrophage numbers MPheno.ontology increased macrophage count MP:0005425 increased macrophage cell number MP:0005425 greater than the normal numbers of macrophages MGI:cwg rapid breathing polypnea MPheno.ontology MP:0005426 tachypnea MP:0005426 rapid breathing ISBN:0-683-40008-8 MGI:cwg true MP:0005427 OBSOLETE. any anomaly in the laboratory tests that show the presence of physiologically significant substances in the blood, urine, tissue, and body fluids with application to the diagnosis or therapy of disease MPheno.ontology MP:0005428 This term has been rendered obsolete. This really refers to groups of clinical tests and measurements, not the underlying phenotype. obsolete abnormal clinical chemistry true MP:0005428 OBSOLETE. any anomaly in the laboratory tests that show the presence of physiologically significant substances in the blood, urine, tissue, and body fluids with application to the diagnosis or therapy of disease MGI:cwg OBSOLETE. with normal urine coloration, a change in the hue of the pine bedding of a mouse, often to a bright yellow or chartreuse, after excretion of urine by the animal housed with this type of bedding; indicative of a metabolic defect MPheno.ontology MP:0005429 obsolete abnormal pine bedding color after urinary excretion true MP:0005429 OBSOLETE. with normal urine coloration, a change in the hue of the pine bedding of a mouse, often to a bright yellow or chartreuse, after excretion of urine by the animal housed with this type of bedding; indicative of a metabolic defect MGI:cwg MGI:llw2 https://orcid.org/0000-0003-3691-0324 absence of the lateral and shorter of the two bones of the lower leg absence of fibula MPheno.ontology MP:0005430 absent fibula MP:0005430 absence of the lateral and shorter of the two bones of the lower leg https://orcid.org/0000-0002-0371-1954 reduced numbers of germ cells in the female decreased number of oocytes decreased oocyte cell number female germ cell depletion oocyte depletion reduced number of oocytes reduced oocyte cell number MPheno.ontology MP:0005431 decreased oocyte number MP:0005431 reduced numbers of germ cells in the female MGI:cwg MGI:llw2 any structural anomaly of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs abnormal B cell progenitor abnormal progenitor B cell pro-B cell abnormalities MPheno.ontology MP:0005432 abnormal pro-B cell morphology MP:0005432 any structural anomaly of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs CL:0000826 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 absence of cells in the B lymphocyte lineage that undergo D-J rearrangement of the immunoglobulin heavy chain deficiency of early pro-B cells MPheno.ontology MP:0005433 absent early pro-B cells MP:0005433 absence of cells in the B lymphocyte lineage that undergo D-J rearrangement of the immunoglobulin heavy chain ISBN:0-8153-1691-7 https://orcid.org/0000-0002-0371-1954 absence of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain deficiency of late pro-B cells MPheno.ontology MP:0005434 absent late pro-B cells MP:0005434 absence of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain ISBN:0-8153-1691-7 https://orcid.org/0000-0002-0371-1954 blood in the peritoneal cavity haematoperitoneum haemoperitoneum hematoperitoneum peritoneal cavity haemorrhage peritoneal cavity hemorrhage MPheno.ontology MP:0005435 hemoperitoneum MP:0005435 blood in the peritoneal cavity ISBN:0-683-40008-8 https://orcid.org/0000-0002-0371-1954 true MP:0005436 any anomaly in the concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle MPheno.ontology MP:0005437 abnormal glycogen level MP:0005437 any anomaly in the concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle ISBN:0-683-40008-8 MGI:cwg anomaly in the processes involved in the maintenance of an internal equilibrium of glycogen, a readily converted carbohydrate reserve found in most tissues of the body, especially liver and muscle MPheno.ontology MP:0005438 abnormal glycogen homeostasis MP:0005438 anomaly in the processes involved in the maintenance of an internal equilibrium of glycogen, a readily converted carbohydrate reserve found in most tissues of the body, especially liver and muscle ISBN:0-683-40008-8 MGI:cwg less than the normal concentration of a readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle reduced glycogen level MPheno.ontology MP:0005439 decreased glycogen level MP:0005439 less than the normal concentration of a readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle ISBN:0-683-40008-8 MGI:cwg greater than the normal concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle MPheno.ontology MP:0005440 increased glycogen level MP:0005440 greater than the normal concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle ISBN:0-683-40008-8 MGI:cwg abnormally large amounts of calcium in the urine hypercalcinuria hypercalciuria hypercalcuria MPheno.ontology MP:0005441 increased urine calcium level MP:0005441 abnormally large amounts of calcium in the urine ISBN:0-683-40008-8 OBSOLETE. any structural anomaly of the projection neurons in the cerebral cortex and hippocampus MP:0009940 MP:0009969 abnormal pyramidal cell MPheno.ontology MP:0005442 obsolete abnormal pyramidal neuron morphology true MP:0005442 altered ability to metabolize the clear, colorless liquid that has formula C2H6O abnormal alcohol metabolism MPheno.ontology MP:0005443 abnormal ethanol metabolism MP:0005443 altered ability to metabolize the clear, colorless liquid that has formula C2H6O CHEBI:16236 MGI:cwg altered ability to metabolize retinol, which plays an essential role in metabolic functioning of the retina, and growth of and differentiation abnormal vitamin A1 metabolism MPheno.ontology MP:0005444 abnormal retinol metabolism MP:0005444 altered ability to metabolize retinol, which plays an essential role in metabolic functioning of the retina, and growth of and differentiation ISBN:0-683-40008-8 anomaly in the production or release of endogenous signaling molecules into a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell abnormal neurotransmitter release abnormal synaptic release MPheno.ontology MP:0005445 abnormal neurotransmitter secretion MP:0005445 anomaly in the production or release of endogenous signaling molecules into a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell GO:0007269 https://orcid.org/0000-0003-3691-0324 aberrant secretion across synapses of the active sympathomimetic hormone that stimulates both the alpha- and beta- adrenergic systems, causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels abnormal synaptic adrenaline release MPheno.ontology MP:0005446 abnormal synaptic epinephrine release MP:0005446 aberrant secretion across synapses of the active sympathomimetic hormone that stimulates both the alpha- and beta- adrenergic systems, causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels MGI:cwg aberrant secretion across synapses of this widespread central and autonomic neurotransmitter, the principal transmitter of most postganglionic sympathetic fibers and of the diffuse projection system in the brain arising from the locus ceruleus MPheno.ontology MP:0005447 abnormal synaptic norepinephrine release MP:0005447 aberrant secretion across synapses of this widespread central and autonomic neurotransmitter, the principal transmitter of most postganglionic sympathetic fibers and of the diffuse projection system in the brain arising from the locus ceruleus MGI:cwg any anomaly in the process involved in the balance between food intake (energy input) and energy expenditure abnormal energy balance MPheno.ontology MP:0005448 abnormal energy homeostasis MP:0005448 any anomaly in the process involved in the balance between food intake (energy input) and energy expenditure GO:0097009 any anomaly in the total number of calories/food amount taken in over time when compared to the normal state abnormal calorie consumption abnormal energy intake abnormal food consumption abnormal ingestion MPheno.ontology MP:0005449 abnormal food intake MP:0005449 any anomaly in the total number of calories/food amount taken in over time when compared to the normal state MGI:cwg utilization of calories that differs from normal abnormal energy efficiency abnormal energy metabolism MPheno.ontology MP:0005450 abnormal energy expenditure MP:0005450 utilization of calories that differs from normal MGI:cwg aberrant relative amount and distribution of bone, body fat, muscle or lean tissue mass MPheno.ontology MP:0005451 abnormal body composition MP:0005451 aberrant relative amount and distribution of bone, body fat, muscle or lean tissue mass MPD:Molly more or less than the normal total amount of connective tissue composed of fat cells MPheno.ontology abnormal body fat amount MP:0005452 abnormal adipose tissue amount MP:0005452 more or less than the normal total amount of connective tissue composed of fat cells MGI:cwg true MP:0005453 true MP:0005454 greater increase in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake MPheno.ontology increased weight gain MP:0005455 increased susceptibility to weight gain MP:0005455 greater increase in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake MGI:cwg OBSOLETE. increase in weight over existing weight MP:0001260 MP:0005455 MP:0010182 MP:0011117 MPheno.ontology MP:0005456 obsolete weight gain true MP:0005456 OBSOLETE. increase in weight over existing weight MESH:C23.888.144.243.926 more or less fat, relative to controls, expressed as a percentage of total body weight abnormal fat/body weight ratio abnormal percent body fat abnormal percentage body fat MPheno.ontology MP:0005457 abnormal percent body fat/body weight MP:0005457 more or less fat, relative to controls, expressed as a percentage of total body weight MGI:cwg more fat, relative to controls, expressed as a percentage of total body weight increased percent body fat increased percentage body fat MPheno.ontology MP:0005458 increased percent body fat/body weight MP:0005458 more fat, relative to controls, expressed as a percentage of total body weight MGI:cwg less fat, relative to controls, expressed as a percentage of total body weight decreased percent body fat decreased percentage body fat reduced percent body fat MPheno.ontology MP:0005459 decreased percent body fat/body weight MP:0005459 less fat, relative to controls, expressed as a percentage of total body weight MGI:cwg any anomaly in the process of generating white blood cells (leukocytes) from the pluripotent hematopoietic stem cells of the bone marrow; two significant pathways generate various types of leukocytes: myelopoiesis, in which leukocytes in the blood are derived from myeloid stem cells, and lymphopoiesis, in which leukocytes of the lymphatic system (lymphocytes) are generated from lymphoid stem cells MP:0002430 MP:0002449 abnormal immune cell development abnormal leucocyte differentiation abnormal leucocyte morphology/development abnormal leucocytopoiesis abnormal leucopoiesis abnormal leukocyte differentiation abnormal leukocyte morphology/development abnormal leukocytopoiesis immune cell developmental abnormalities MPheno.ontology MP:0005460 abnormal leukopoiesis MP:0005460 any anomaly in the process of generating white blood cells (leukocytes) from the pluripotent hematopoietic stem cells of the bone marrow; two significant pathways generate various types of leukocytes: myelopoiesis, in which leukocytes in the blood are derived from myeloid stem cells, and lymphopoiesis, in which leukocytes of the lymphatic system (lymphocytes) are generated from lymphoid stem cells MESH:G04.335.151.825.597 any structural anomaly of a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation MPheno.ontology MP:0005461 Do not confuse with abnormal follicular dendritic cell morphology (MP:0008196). abnormal dendritic cell morphology MP:0005461 any structural anomaly of a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 atypical production of or inability to produce a cell that is found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation MPheno.ontology MP:0005462 abnormal mast cell differentiation MP:0005462 atypical production of or inability to produce a cell that is found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation MESH:A.11.329.427 any functional anomaly of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production abnormal single positive T cell physiology CD4+ T cell dysfunction abnormal CD4+ T cell function abnormal CD4+ T cell physiology abnormal CD4-positive T cell physiology MPheno.ontology MP:0005463 abnormal CD4-positive, alpha-beta T cell physiology MP:0005463 any functional anomaly of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production MGI:cwg any functional anomaly of the non-nucleated cells found in the blood and involved in blood coagulation abnormal platelet function abnormal thrombocyte physiology MPheno.ontology MP:0005464 abnormal platelet physiology MP:0005464 any functional anomaly of the non-nucleated cells found in the blood and involved in blood coagulation MESH:A11.118.188 MGI:cwg abnormal function of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity T helper 1 functional abnormalities TH1 functional abnormalities Th1 functional abnormalities abnormal T helper 1 function abnormal TH1 cell function abnormal helper T cell type 1 function abnormal helper T lymphocyte type 1 function abnormal helper T-cell type 1 function abnormal helper T-lymphocyte type 1 function MPheno.ontology MP:0005465 abnormal T-helper 1 physiology MP:0005465 abnormal function of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity CL:0000545 ISBN:0781735149 abnormal function of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy T helper 2 functional abnormalities TH2 functional abnormalities Th2 functional abnormalities abnormal T helper 2 function abnormal T helper 2 physiology abnormal TH2 cell function abnormal helper T cell type 2 function abnormal helper T lymphocyte type 2 function abnormal helper T-cell type 2 function abnormal helper T-lymphocyte type 2 function MPheno.ontology MP:0005466 abnormal T-helper 2 physiology MP:0005466 abnormal function of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy CL:0000546 ISBN:0781735149 OBSOLETE. functional anomaly of any of a subset of leukotrienes that are involved in attracting leukocytes to a site of tissue injury MPheno.ontology MP:0005467 obsolete abnormal chemotactic leukotriene physiology true MP:0005467 OBSOLETE. functional anomaly of any of a subset of leukotrienes that are involved in attracting leukocytes to a site of tissue injury MGI:cwg aberrant concentration of any of the hormones secreted by the thyroid gland MPheno.ontology MP:0005468 abnormal thyroid hormone level MP:0005468 aberrant concentration of any of the hormones secreted by the thyroid gland MESH:D06.472.931 MGI:cwg any anomaly in the concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism abnormal T4 level abnormal thyroxin level MPheno.ontology MP:0005469 abnormal thyroxine level MP:0005469 any anomaly in the concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism MESH:D06.472.931.812 MGI:cwg greater than the normal concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism increased T4 level increased thyroxin level MPheno.ontology MP:0005470 increased thyroxine level MP:0005470 greater than the normal concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism MESH:D06.472.931.812 MGI:cwg less than the normal concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism decreased T4 level decreased thyroxin level reduced T4 level reduced thyroxin level reduced thyroxine level MPheno.ontology MP:0005471 decreased thyroxine level MP:0005471 less than the normal concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism MESH:D06.472.931.812 MGI:cwg anomaly in the amount of a thyroid hormone that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland abnormal T3 level MPheno.ontology MP:0005472 abnormal triiodothyronine level MP:0005472 anomaly in the amount of a thyroid hormone that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland ISBN:0-683-40008-8 ISBN:978-0-323-05290-0 reduced amount of a thyroid hormone that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland decreased T3 level reduced T3 level reduced triiodothyronine level MPheno.ontology MP:0005473 decreased triiodothyronine level MP:0005473 reduced amount of a thyroid hormone that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland ISBN:0-683-40008-8 ISBN:978-0-323-05290-0 greater amount of a thyroid hormone that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland increased T3 level MPheno.ontology MP:0005474 increased triiodothyronine level MP:0005474 greater amount of a thyroid hormone that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland ISBN:0-683-40008-8 ISBN:978-0-323-05290-0 anomaly in the blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism abnormal circulating level of T4 abnormal circulating level of thryoxin abnormal circulating level of thryoxine MPheno.ontology MP:0005475 abnormal circulating thyroxine level MP:0005475 anomaly in the blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism MESH:D06.472.931.812 MGI:cwg anomaly in the amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland abnormal circulating level of T3 abnormal circulating level of triiodothyronine MPheno.ontology MP:0005476 abnormal circulating triiodothyronine level MP:0005476 anomaly in the amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland ISBN:0-683-40008-8 ISBN:978-0-323-05290-0 greater than the normal blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism increased circulating level of T4 increased circulating level of thyroxin increased circulating level of thyroxine MPheno.ontology MP:0005477 increased circulating thyroxine level MP:0005477 greater than the normal blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism MESH:D06.472.931.812 MGI:cwg reduction in the normal blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism decreased circulating level of T4 decreased circulating level of thyroxin decreased circulating level of thyroxine reduced circulating thyroxine level MPheno.ontology MP:0005478 decreased circulating thyroxine level MP:0005478 reduction in the normal blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism MESH:D06.472.931.812 MGI:cwg reduced amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland decreased circulating level of T3 decreased circulating level of triiodothyronine reduced circulating triiodothyronine level MPheno.ontology MP:0005479 decreased circulating triiodothyronine level MP:0005479 reduced amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland ISBN:0-683-40008-8 ISBN:978-0-323-05290-0 greater amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland increased circulating level of T3 increased circulating level of triiodothyronine MPheno.ontology MP:0005480 increased circulating triiodothyronine level MP:0005480 greater amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland ISBN:0-683-40008-8 ISBN:978-0-323-05290-0 higher than normal incidence of a heterogeneous group of myeloproliferative disorders that may evolve into acute leukemia in late stages increased chronic myelocytic leukaemia incidence MPheno.ontology CML chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelocytic leukaemia chronic myelocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia chronic myeloid leukemia MP:0005481 increased chronic myelocytic leukemia incidence MP:0005481 higher than normal incidence of a heterogeneous group of myeloproliferative disorders that may evolve into acute leukemia in late stages ISBN:0-683-40008-8 OBSOLETE. increased size or bulk of a cell, without accompanying increased numbers MPheno.ontology MP:0005482 obsolete cellular hypertrophy true MP:0005482 OBSOLETE. increased size or bulk of a cell, without accompanying increased numbers MGI:cwg OBSOLETE. an increase in the number of cells in an organ or tissue MPheno.ontology MP:0005483 obsolete cellular hyperplasia true MP:0005483 OBSOLETE. an increase in the number of cells in an organ or tissue MGI:cwg true MP:0005484 OBSOLETE. change in the size, shape, and organization of the cellular components of a tissue MPheno.ontology MP:0005485 obsolete cellular dysplasia true MP:0005485 OBSOLETE. change in the size, shape, and organization of the cellular components of a tissue ISBN:0-397-51047-0 MGI:cwg OBSOLETE. conversion of one differentiated cell type to another MPheno.ontology MP:0005486 obsolete cellular metaplasia true MP:0005486 OBSOLETE. conversion of one differentiated cell type to another ISBN:0-397-51047-0 OBSOLETE. a decrease in the number of cells in an organ or tissue MPheno.ontology MP:0005487 obsolete cellular hypoplasia true MP:0005487 OBSOLETE. a decrease in the number of cells in an organ or tissue MGI:cwg increase in the number of normal cells in normal arrangement in the bronchial epithelium, typically resulting in increased size hyperplastic bronchial epithelium MPheno.ontology MP:0005488 bronchial epithelial hyperplasia MP:0005488 increase in the number of normal cells in normal arrangement in the bronchial epithelium, typically resulting in increased size MGI:cwg increase in the number of normal cells in normal arrangement in the vascular smooth muscle, typically resulting in increased size hyperplastic vascular smooth muscle vascular smooth muscle cell hyperplasia MPheno.ontology MP:0005489 vascular smooth muscle hyperplasia MP:0005489 increase in the number of normal cells in normal arrangement in the vascular smooth muscle, typically resulting in increased size MGI:cwg increased numbers of the rounded, club-shaped, nonciliated cells found between ciliated cells in bronchiolar epithelium club cell hyperplasia increased Clara cell number increased bronchiolar exocrine cell number MPheno.ontology MP:0005490 increased club cell number MP:0005490 increased numbers of the rounded, club-shaped, nonciliated cells found between ciliated cells in bronchiolar epithelium ISBN:0-683-40008-8 increase in the number of normal cells in normal arrangement in the pancreatic islets, typically resulting in increased size hyperplastic pancreatic islets MPheno.ontology MP:0005491 pancreatic islet hyperplasia MP:0005491 increase in the number of normal cells in normal arrangement in the pancreatic islets, typically resulting in increased size MESH:A03.734.414 MGI:cwg decrease in the number of normal cells in normal arrangement in the exocrine pancreas, typically resulting in decreased size exocrine pancreatic hypoplasia hypoplastic exocrine pancreas MPheno.ontology decreased exocrine pancreas cellularity MP:0005492 exocrine pancreas hypoplasia MP:0005492 decrease in the number of normal cells in normal arrangement in the exocrine pancreas, typically resulting in decreased size MESH:A03.734.540 increase in the number of normal cells in normal arrangement in the stomach epithelium, typically resulting in increased size gastric epithelial hyperplasia hyperplastic gastric epithelium MPheno.ontology MP:0005493 stomach epithelial hyperplasia MP:0005493 increase in the number of normal cells in normal arrangement in the stomach epithelium, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 conversion of one differentiated cell type to another differentiated cell type at the terminal end of the esophagus and beginning of the stomach G-E junction metaplasia MPheno.ontology MP:0005494 esophagogastric junction metaplasia MP:0005494 conversion of one differentiated cell type to another differentiated cell type at the terminal end of the esophagus and beginning of the stomach ISBN:0-683-40008-8 true MP:0005495 true MP:0005496 concave shape of the nerve often as a result of the force of pressure from glaucoma cupping of optic nerve MPheno.ontology MP:0005497 optic nerve cupping MP:0005497 concave shape of the nerve often as a result of the force of pressure from glaucoma MGI:cwg reduced reflex action normally induced by touch or pain MP:0001979 decreased pain responsiveness in tail flick test MPheno.ontology tactile hypoalgesia MP:0005498 hyporesponsive to tactile stimuli MP:0005498 reduced reflex action normally induced by touch or pain MGI:cwg any structural anomaly of the organs involved in smell olfactory system dysplasia MPheno.ontology MP:0005499 abnormal olfactory system morphology MP:0005499 any structural anomaly of the organs involved in smell MGI:cwg any structural anomaly of the organs involved in taste gustatory system dysplasia MPheno.ontology MP:0005500 abnormal gustatory system morphology MP:0005500 any structural anomaly of the organs involved in taste ISBN:0-683-40008-8 any functional anomaly of the membranous protective covering of the body MPheno.ontology MP:0005501 abnormal skin physiology MP:0005501 any functional anomaly of the membranous protective covering of the body ISBN:0-683-40008-8 MGI:cwg any functional anomaly of any of the organs or tissues responsible for fluid volume regulation, regulating electrolytes, maintaining acid-base homeostasis, and elimination of water and water soluble waste products in an organism abnormal urinary system function MPheno.ontology MP:0005502 abnormal renal/urinary system physiology MP:0005502 any functional anomaly of any of the organs or tissues responsible for fluid volume regulation, regulating electrolytes, maintaining acid-base homeostasis, and elimination of water and water soluble waste products in an organism https://orcid.org/0000-0003-3691-0324 any structural anomaly of the fibrous bands or cords of connective tissue at the ends of muscle fibers that attach muscles to bones and other structures MPheno.ontology tendon dysplasia MP:0005503 abnormal tendon morphology MP:0005503 any structural anomaly of the fibrous bands or cords of connective tissue at the ends of muscle fibers that attach muscles to bones and other structures MESH:A02.880 any structural anomaly of the flexible bands of fibrous tissue that connect the articular extremities of bones ligament dysplasia MPheno.ontology MP:0005504 abnormal ligament morphology MP:0005504 any structural anomaly of the flexible bands of fibrous tissue that connect the articular extremities of bones MESH:A02.513 greater than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation increased platelet cell number increased platelet count MPheno.ontology increased thrombocyte number MP:0005505 thrombocytosis MP:0005505 greater than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation MGI:cwg OBSOLETE. functional anomaly of the digits, paws, limbs, or tail MPheno.ontology MP:0005506 obsolete abnormal limbs/digits/tail physiology true MP:0005506 OBSOLETE. functional anomaly of the digits, paws, limbs, or tail MGI:cwg pulling the tail along with difficulty or effort; may be due to paralysis or weakness MPheno.ontology MP:0005507 tail dragging MP:0005507 pulling the tail along with difficulty or effort; may be due to paralysis or weakness MGI:cwg any structural anomaly of the bony framework of the body in vertebrates MP:0000055 abnormal bone/ skeleton bone/ skeletal abnormalities MPheno.ontology MP:0005508 abnormal skeleton morphology MP:0005508 any structural anomaly of the bony framework of the body in vertebrates ISBN:0-683-40008-8 true MP:0005509 true MP:0005510 true MP:0005511 true MP:0005512 true MP:0005513 true MP:0005514 inflammation of part or all of the uvea, the middle (vascular) tunic of the eye, and commonly involving the other tunics (sclera and cornea, and the retina) MPheno.ontology MP:0005515 uveitis MP:0005515 inflammation of part or all of the uvea, the middle (vascular) tunic of the eye, and commonly involving the other tunics (sclera and cornea, and the retina) MESH:C11.941.879 RGD:cur increase in the renewal, repair, and/or regrowth of liver tissue following injury or disease enhanced hepatic regeneration improved hepatic regeneration improved liver regeneration increased hepatic regeneration increased liver regeneration MPheno.ontology MP:0005516 enhanced liver regeneration MP:0005516 increase in the renewal, repair, and/or regrowth of liver tissue following injury or disease https://orcid.org/0000-0002-6490-7723 decrease in the renewal, repair, and/or regrowth of liver tissue following injury or disease decreased hepatic regeneration decreased liver regeneration impaired hepatic regeneration reduced hepatic regeneration reduced liver regeneration MPheno.ontology MP:0005517 impaired liver regeneration MP:0005517 decrease in the renewal, repair, and/or regrowth of liver tissue following injury or disease https://orcid.org/0000-0002-6490-7723 anomaly in the renewal, repair, and/or regrowth of pancreatic tissue following injury or disease abnormal pancreatic regeneration MPheno.ontology MP:0005518 abnormal pancreas regeneration MP:0005518 anomaly in the renewal, repair, and/or regrowth of pancreatic tissue following injury or disease https://orcid.org/0000-0002-6490-7723 increase in the renewal, repair, and/or regrowth of pancreatic tissue following injury or disease enhanced pancreatic regeneration improved pancreas regeneration improved pancreatic regeneration increased pancreas regeneration increased pancreatic regeneration MPheno.ontology MP:0005519 enhanced pancreas regeneration MP:0005519 increase in the renewal, repair, and/or regrowth of pancreatic tissue following injury or disease https://orcid.org/0000-0002-6490-7723 decrease in the renewal, repair, and/or regrowth of pancreatic tissue following injury or disease decreased pancreas regeneration decreased pancreatic regeneration impaired pancreatic regeneration reduced pancreas regeneration reduced pancreatic regeneration MPheno.ontology MP:0005520 impaired pancreas regeneration MP:0005520 decrease in the renewal, repair, and/or regrowth of pancreatic tissue following injury or disease https://orcid.org/0000-0002-6490-7723 deviation from the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator MPheno.ontology MP:0005521 abnormal circulating atrial natriuretic factor level MP:0005521 deviation from the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator MESH:D06.472.699.584.500 RGD:cur greater than the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator enhanced circulating atrial natriuretic factor increased circulating ANF MPheno.ontology MP:0005522 increased circulating atrial natriuretic factor MP:0005522 greater than the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator MESH:D06.472.699.584.500 RGD:cur less than the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator decreased circulating ANF reduced circulating atrial natriuretic factor MPheno.ontology MP:0005523 decreased circulating atrial natriuretic factor MP:0005523 less than the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator MESH:D06.472.699.584.500 RGD:cur deviation from the normal volume of plasma passing through the kidney per unit time MPheno.ontology MP:0005524 abnormal renal plasma flow rate MP:0005524 deviation from the normal volume of plasma passing through the kidney per unit time MGI:cwg RGD:cur greater than the normal volume of plasma passing through the kidney per unit time MPheno.ontology MP:0005525 increased renal plasma flow rate MP:0005525 greater than the normal volume of plasma passing through the kidney per unit time MGI:cwg RGD:cur less than the normal volume of plasma passing through the kidney per unit time reduced renal plasma flow rate MPheno.ontology MP:0005526 decreased renal plasma flow rate MP:0005526 less than the normal volume of plasma passing through the kidney per unit time MGI:cwg RGD:cur greater than the normal volume of water filtered out of the plasma through glomerular capillary walls into the Bowman's capsule per unit time increased GFR increased kidney glomerular filtration rate MPheno.ontology MP:0005527 increased renal glomerular filtration rate MP:0005527 greater than the normal volume of water filtered out of the plasma through glomerular capillary walls into the Bowman's capsule per unit time MESH:E01.370.390.400.300 MGI:cwg less than the normal volume of water filtered out of the plasma through glomerular capillary walls into the Bowman's capsule per unit time decreased GFR decreased kidney glomerular filtration rate reduced kidney glomerular filtration rate reduced renal glomerular filtration rate MPheno.ontology MP:0005528 decreased renal glomerular filtration rate MP:0005528 less than the normal volume of water filtered out of the plasma through glomerular capillary walls into the Bowman's capsule per unit time MESH:E01.370.390.400.300 MGI:cwg deviation from the normal force opposing blood flow in the kidney blood vessels MPheno.ontology MP:0005529 abnormal renal vascular resistance MP:0005529 deviation from the normal force opposing blood flow in the kidney blood vessels MGI:cwg RGD:cur less than the normal force opposing blood flow in the kidney blood vessels reduced renal vascular resistance MPheno.ontology MP:0005530 decreased renal vascular resistance MP:0005530 less than the normal force opposing blood flow in the kidney blood vessels MGI:cwg RGD:cur greater than the normal force opposing blood flow in the kidney blood vessels MPheno.ontology MP:0005531 increased renal vascular resistance MP:0005531 greater than the normal force opposing blood flow in the kidney blood vessels MGI:cwg RGD:cur deviation from the normal force opposing the flow of blood through a vascular bed; it is equal to the difference in blood pressure across the vascular bed divided by the cardiac output abnormal peripheral resistance MPheno.ontology MP:0005532 abnormal vascular resistance MP:0005532 deviation from the normal force opposing the flow of blood through a vascular bed; it is equal to the difference in blood pressure across the vascular bed divided by the cardiac output MESH:G09.330.553.660.921 MGI:cwg greater than the level of heat natural to a living being MPheno.ontology MP:0005533 increased body temperature MP:0005533 greater than the level of heat natural to a living being ISBN:0-683-40008-8 MGI:cwg RGD:cur less than the level of heat natural to a living being MP:0005038 hypothermia reduced body temperature MPheno.ontology MP:0005534 decreased body temperature MP:0005534 less than the level of heat natural to a living being ISBN:0-683-40008-8 MGI:cwg RGD:cur deviation in the level of heat natural to a living being MPheno.ontology MP:0005535 abnormal body temperature MP:0005535 deviation in the level of heat natural to a living being ISBN:0-683-40008-8 MGI:cwg RGD:cur decreased number of the interstitial cells found adjacent to the seminiferous tubules in the testicle that produce testosterone in the presence of luteinizing hormone reduced Leydig cell number Leydig cell hypoplasia MPheno.ontology MP:0005536 decreased Leydig cell number MP:0005536 decreased number of the interstitial cells found adjacent to the seminiferous tubules in the testicle that produce testosterone in the presence of luteinizing hormone https://orcid.org/0000-0002-0371-1954 any structural anomaly of the channel in the mesencephalon that connects the third and fourth ventricles abnormal Sylvian aqueduct morphology abnormal aqueduct of Sylvius abnormal aqueduct of midbrain morphology abnormal aqueductus mesencephali morphology abnormal mesencephalic duct morphology abnormal mesencephalic vesicle morphology abnormal midbrain cerebral aqueduct morphology MPheno.ontology abnormal cerebral aqueduct of Sylvius morphology MP:0005537 abnormal cerebral aqueduct morphology MP:0005537 any structural anomaly of the channel in the mesencephalon that connects the third and fourth ventricles MESH:A08.186.211.132.659.822.187 MGI:hdene true MP:0005538 true MP:0005539 less than the normal amount of albumin in the urine MP:0005538 decreased albumin excretion decreased albumin in urine reduced albumin excretion MPheno.ontology MP:0005540 decreased urine albumin level MP:0005540 less than the normal amount of albumin in the urine RGD:cur https://orcid.org/0000-0003-3691-0324 any anomaly in the coloring of the framework of the iris MPheno.ontology MP:0005541 abnormal iris stromal pigmentation MP:0005541 any anomaly in the coloring of the framework of the iris MGI:cwg formation of blood vessels in the cornea, which normally lacks vessels corneal vascularization tunica cornea vascularization MPheno.ontology MP:0005542 cornea vascularization MP:0005542 formation of blood vessels in the cornea, which normally lacks vessels ISBN:0-683-40008-8 MGI:cwg decreased thickness of the cornea, the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure corneal thinning decreased corneal thickness decreased tunica cornea thickness reduced cornea thickness thin cornea MPheno.ontology MP:0005543 decreased cornea thickness MP:0005543 decreased thickness of the cornea, the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure MGI:cwg accumulation of minerals, proteins, or other anomalous substances on the cornea corneal deposits tunica cornea deposits MPheno.ontology MP:0005544 cornea deposits MP:0005544 accumulation of minerals, proteins, or other anomalous substances on the cornea MGI:cwg aberrant formation of the transparent structure of the eye responsible for focusing light rays MPheno.ontology MP:0005545 abnormal lens development MP:0005545 aberrant formation of the transparent structure of the eye responsible for focusing light rays MGI:cwg new, abnormal, vessel development of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera MPheno.ontology MP:0005546 choroidal neovascularization MP:0005546 new, abnormal, vessel development of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera ISBN:0-683-40008-8 MGI:cwg any structural anomaly of the elongated neuroglial cells that traverse all the layers of the retina and that act as supporting elements abnormal Mueller cell morphology abnormal Muller fiber morphology abnormal Muller fibre morphology abnormal Muller radial cell morphology MPheno.ontology MP:0005547 abnormal Muller cell morphology MP:0005547 any structural anomaly of the elongated neuroglial cells that traverse all the layers of the retina and that act as supporting elements ISBN:0-683-40008-8 MGI:cwg abnormal Muller fiber morphology ISBN:0-683-40008-8 acquired diminution of the size of the epithelial layer of the retina composed of cells containing pigment granules, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes atrophy of retinal pigment epithelium retinal pigment epithelium atrophy MPheno.ontology MP:0005548 retina pigment epithelium atrophy MP:0005548 acquired diminution of the size of the epithelial layer of the retina composed of cells containing pigment granules, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MGI:cwg https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the retinal pigment epithelium, typically resulting in increased size hyperplasia of retinal pigment epithelium hyperplastic retina pigment epithelium hyperplastic retinal pigment epithelium retinal pigment epithelium hyperplasia MPheno.ontology MP:0005549 retina pigment epithelium hyperplasia MP:0005549 increase in the number of normal cells in normal arrangement in the retinal pigment epithelium, typically resulting in increased size MGI:cwg OBSOLETE. escape of blood into the orbit MPheno.ontology MP:0005550 obsolete orbital hemorrhage true MP:0005550 OBSOLETE. escape of blood into the orbit MGI:cwg any functional anomaly of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram) MPheno.ontology MP:0005551 abnormal eye electrophysiology MP:0005551 any functional anomaly of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram) MGI:pretel OBSOLETE. structural anomaly of the bony cavity that contains the eyeball and is formed by parts of eight bones in the mouse: maxilla, lacrimal, zygomatic, frontal, temporal, sphenoid, ethmoid, palatine abnormal orbital bones MPheno.ontology MP:0005552 obsolete abnormal orbital bone morphology true MP:0005552 OBSOLETE. structural anomaly of the bony cavity that contains the eyeball and is formed by parts of eight bones in the mouse: maxilla, lacrimal, zygomatic, frontal, temporal, sphenoid, ethmoid, palatine ISBN:0-683-40008-8 greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction increased creatinine level MPheno.ontology MP:0005553 increased circulating creatinine level MP:0005553 greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction ISBN:0-683-40008-8 RGD:cur less than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction decreased creatinine level reduced circulating creatinine level MPheno.ontology MP:0005554 decreased circulating creatinine level MP:0005554 less than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction ISBN:0-683-40008-8 RGD:cur true MP:0005555 altered ability of the kidneys to remove substances from the plasma for excretion in a specific period of time abnormal kidney clearance abnormal renal clearance MPheno.ontology MP:0005556 abnormal renal filtration rate MP:0005556 altered ability of the kidneys to remove substances from the plasma for excretion in a specific period of time MGI:cwg increased rate of the process in which creatine is removed from the blood via renal filtration and its constituent parts degraded MPheno.ontology MP:0005557 increased creatinine clearance MP:0005557 increased rate of the process in which creatine is removed from the blood via renal filtration and its constituent parts degraded MGI:cwg RGD:cur decreased rate of the process in which creatine is removed from the blood via renal filtration and its constituent parts degraded reduced creatinine clearance MPheno.ontology MP:0005558 decreased creatinine clearance MP:0005558 decreased rate of the process in which creatine is removed from the blood via renal filtration and its constituent parts degraded MGI:cwg RGD:cur greater than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source increased glucose level MPheno.ontology MP:0005559 increased circulating glucose level MP:0005559 greater than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source MGI:cwg RGD:cur less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source decreased glucose level reduced circulating glucose level MPheno.ontology MP:0005560 decreased circulating glucose level MP:0005560 less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source MGI:cwg RGD:cur greater than the average levels of hemoglobin contained in an erythrocyte high MCH high mean corpuscular haemoglobin high mean corpuscular hemoglobin hyperchromia increased MCH increased mean corpuscular haemoglobin MPheno.ontology MP:0005561 Mean corpuscular hemoglobin (MCH) is a standard measurement in clinical chemistry, usually reported in picograms/cell. increased mean corpuscular hemoglobin MP:0005561 greater than the average levels of hemoglobin contained in an erythrocyte ISBN:0-683-40008-8 RGD:cur less than the average levels of hemoglobin contained in an erythrocyte decreased MCH decreased mean corpuscular haemoglobin low MCH low mean corpuscular haemoglobin low mean corpuscular hemoglobin reduced mean corpuscular haemoglobin reduced mean corpuscular hemoglobin MPheno.ontology hypochromasia hypochromatism hypochromia hypochromic erythrocyte hypochromic red cell hypochrosis MP:0005562 Mean corpuscular hemoglobin (MCH) is a standard measurement in clinical chemistry, usually reported in picograms/cell. decreased mean corpuscular hemoglobin MP:0005562 less than the average levels of hemoglobin contained in an erythrocyte ISBN:0-683-40008-8 RGD:cur deviation from the normal total hemoglobin content in the circulating blood abnormal haemoglobin content MPheno.ontology MP:0005563 abnormal hemoglobin content MP:0005563 deviation from the normal total hemoglobin content in the circulating blood https://orcid.org/0000-0003-3691-0324 increase in the total hemoglobin content in the circulating blood increased haemoglobin content MPheno.ontology MP:0005564 increased hemoglobin content MP:0005564 increase in the total hemoglobin content in the circulating blood RGD:cur https://orcid.org/0000-0003-3691-0324 high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function increased BUN MPheno.ontology MP:0005565 increased blood urea nitrogen level MP:0005565 high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function ISBN:0-683-40008-8 RGD:cur low circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function decreased BUN reduced BUN reduced blood urea nitrogen level MPheno.ontology MP:0005566 decreased blood urea nitrogen level MP:0005566 low circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function ISBN:0-683-40008-8 RGD:cur total circulating protein level below the normal range MP:0005417 decreased total protein level hypoproteinemia reduced circulating total protein level decreased plasma total protein level decreased serum total protein level MPheno.ontology MP:0005567 decreased circulating total protein level MP:0005567 total circulating protein level below the normal range RGD:cur total circulating protein level above the normal range increased total protein level hyperproteinemia increased plasma total protein level increased serum total protein level MPheno.ontology MP:0005568 increased circulating total protein level MP:0005568 total circulating protein level above the normal range RGD:cur true MP:0005569 true MP:0005570 reduced level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate decreased LDH level reduced LDH level reduced lactate dehydrogenase level MPheno.ontology MP:0005571 decreased lactate dehydrogenase level MP:0005571 reduced level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate MeSH:D08.811.682.047.551.400 deviation from the normal number of breaths per minute abnormal BF abnormal breathing frequency abnormal pulmonary ventilation rate abnormal respiration rate abnormal respiratory rate abnormal ventilation rate MPheno.ontology MP:0005572 Do not confuse with pulmonary ventilation (volume of air per minute vs. number of breaths per minute). abnormal pulmonary respiratory rate MP:0005572 deviation from the normal number of breaths per minute RGD:cur greater than the normal number of breaths per minute increased BF increased breathing frequency increased pulmonary ventilation rate increased respiration rate increased respiratory rate increased ventilation rate MPheno.ontology MP:0005573 Do not confuse with pulmonary ventilation (volume of air per minute vs. number of breaths per minute). increased pulmonary respiratory rate MP:0005573 greater than the normal number of breaths per minute RGD:cur fewer than the normal number of breaths per minute bradypnea decreased BF decreased breathing frequency decreased pulmonary ventilation rate decreased respiration rate decreased respiratory rate decreased ventilation rate reduced BF reduced breathing frequency reduced pulmonary ventilation rate reduced respiration rate reduced respiratory rate reduced ventilation rate MPheno.ontology MP:0005574 Do not confuse with pulmonary ventilation (volume of air per minute vs. number of breaths per minute). decreased pulmonary respiratory rate MP:0005574 fewer than the normal number of breaths per minute RGD:cur increase in the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment increased respiratory minute volume MPheno.ontology increased respiratory minute ventilation MP:0005575 Do not confuse with pulmonary ventilation rate (aka respiratory rate). Pulmonary ventilation is the volume of air per minute; pulmonary ventilation rate is the number of breaths per minute. increased pulmonary ventilation MP:0005575 increase in the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment ISBN:0-683-40008-8 RGD:cur reduction in the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment decreased respiratory minute volume reduced pulmonary ventilation reduced respiratory minute volume MPheno.ontology decreased respiratory minute ventilation MP:0005576 Do not confuse with pulmonary ventilation rate (aka respiratory rate). Pulmonary ventilation is the volume of air per minute; pulmonary ventilation rate is the number of breaths per minute. decreased pulmonary ventilation MP:0005576 reduction in the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment RGD:cur http://www.dorlands.com/ downward movement, and possible external appearance, of the uterus through the vagina metra prolapse metral prolapse MPheno.ontology uterine prolapse MP:0005577 uterus prolapse MP:0005577 downward movement, and possible external appearance, of the uterus through the vagina https://orcid.org/0000-0002-0371-1954 presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends teratospermia MPheno.ontology MP:0005578 teratozoospermia MP:0005578 presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 absence of the auricles or external acoustic meatus MPheno.ontology MP:0005579 absent outer ear MP:0005579 absence of the auricles or external acoustic meatus MGI:cwg an accumulation of macrophages, dendritic cells, and B and T lymphocytes in the periductal areas of the pancreas but outside the islet cell areas; often occurs prior to intra-insulitis of the islet cell areas peri-insulitis periinsulinitis MPheno.ontology MP:0005580 periinsulitis MP:0005580 an accumulation of macrophages, dendritic cells, and B and T lymphocytes in the periductal areas of the pancreas but outside the islet cell areas; often occurs prior to intra-insulitis of the islet cell areas http://www.diapedia.org altered ability of this enzyme to cleave angiotensionogen and create angiotensin I abnormal angiotensionogenase activity MPheno.ontology MP:0005581 abnormal renin activity MP:0005581 altered ability of this enzyme to cleave angiotensionogen and create angiotensin I RGD:cur greater than the normal ability of this enzyme to cleave angiotensionogen and create angiotensin I increased angiotensionogenase activity MPheno.ontology MP:0005582 increased renin activity MP:0005582 greater than the normal ability of this enzyme to cleave angiotensionogen and create angiotensin I RGD:cur less than the normal ability of this enzyme to cleave angiotensionogen and create angiotensin I decreased angiotensionogenase activity reduced angiotensionogenase activity reduced renin activity MPheno.ontology MP:0005583 decreased renin activity MP:0005583 less than the normal ability of this enzyme to cleave angiotensionogen and create angiotensin I RGD:cur altered ability of any enzyme or their cofactors, to act as catalysts to induce chemical changes in other substances MPheno.ontology MP:0005584 abnormal enzyme/coenzyme activity MP:0005584 altered ability of any enzyme or their cofactors, to act as catalysts to induce chemical changes in other substances ISBN:0-683-40008-8 greater than the normal volume of air inspired or expired during each normal respiratory cycle MPheno.ontology MP:0005585 increased tidal volume MP:0005585 greater than the normal volume of air inspired or expired during each normal respiratory cycle MESH:G09.772.765.850.970.500.700 RGD:cur less than the normal volume of air inspired or expired during each normal respiratory cycle reduced tidal volume MPheno.ontology MP:0005586 decreased tidal volume MP:0005586 less than the normal volume of air inspired or expired during each normal respiratory cycle MESH:G09.772.765.850.970.500.700 RGD:cur any structural anomaly of this cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible; gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments abnormal Meckel cartilage morphology abnormal mandibular cartilage morphology MPheno.ontology MP:0005587 abnormal Meckel's cartilage morphology MP:0005587 any structural anomaly of this cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible; gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments ISBN:0-683-40008-8 true MP:0005588 true MP:0005589 greater than the expected or normal widening of the lumen of the blood vessels MPheno.ontology MP:0005590 increased vasodilation MP:0005590 greater than the expected or normal widening of the lumen of the blood vessels ISBN:0-683-40008-8 RGD:cur less than the expected or normal widening of the lumen of the blood vessels reduced vasodilation MPheno.ontology MP:0005591 decreased vasodilation MP:0005591 less than the expected or normal widening of the lumen of the blood vessels ISBN:0-683-40008-8 RGD:cur any structural anomaly of the nonstriated, involuntary muscle tissue of the blood vessels MPheno.ontology MP:0005592 abnormal vascular smooth muscle morphology MP:0005592 any structural anomaly of the nonstriated, involuntary muscle tissue of the blood vessels MGI:cwg true MP:0005593 true MP:0005594 any functional anomaly of the nonstriated, involuntary muscle tissue of the blood vessels MPheno.ontology MP:0005595 abnormal vascular smooth muscle physiology MP:0005595 any functional anomaly of the nonstriated, involuntary muscle tissue of the blood vessels RGD:cur greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks MP:0001878 decreased resistance to anaphylactic shock decreased resistance to anaphylaxis decreased resistance to immediate type hypersensitivity decreased resistance to type I hypersensitivity reaction increased susceptibility to allergic response increased susceptibility to anaphylactic shock increased susceptibility to anaphylaxis increased susceptibility to immediate type hypersensitivity MPheno.ontology MP:0005596 Examples of this type of hypersensitivity include hay fever, asthma, and anaphylaxis. increased susceptibility to type I hypersensitivity reaction MP:0005596 greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks ISBN:0-397-51047-0 MGI:cwg less likelihood or resistance to developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks decreased susceptibility to anaphylactic shock decreased susceptibility to anaphylaxis decreased susceptibility to immediate type hypersensitivity increased resistance to anaphylactic shock increased resistance to anaphylaxis increased resistance to immediate type hypersensitivity increased resistance to type I hypersensitivity reaction reduced susceptibility to type I hypersensitivity reaction MPheno.ontology MP:0005597 Examples of this type of hypersensitivity include hay fever, asthma, and anaphylaxis. decreased susceptibility to type I hypersensitivity reaction MP:0005597 less likelihood or resistance to developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks ISBN:0-397-51047-0 MGI:cwg reduced ability of the heart ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume decreased ventricle muscle contractility impaired ventricle muscle contractility reduced ventricle muscle contractility decreased ventricular ejection fraction volume MPheno.ontology MP:0005598 decreased heart ventricle muscle contractility MP:0005598 reduced ability of the heart ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume ISBN:0-683-40008-8 RGD:cur greater than the normal ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume MP:0002973 increased cardiac muscle contraction increased fractional shortening (FS) increased peak of aortic outflow velocity (PAV) increased velocity of circumferential fiber shortening (Vcfc) increased velocity of circumferential fibre shortening (Vcfc) increased ventricular ejection fraction volume MPheno.ontology MP:0005599 increased cardiac muscle contractility MP:0005599 greater than the normal ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume ISBN:0-683-40008-8 RGD:cur greater than the normal ability of the heart ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume increased ventricle muscle contractility increased ventricular ejection fraction volume MPheno.ontology MP:0005600 increased heart ventricle muscle contractility MP:0005600 greater than the normal ability of the heart ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume ISBN:0-683-40008-8 RGD:cur enhanced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network enhanced angiogenesis MPheno.ontology MP:0005601 increased angiogenesis MP:0005601 enhanced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network RGD:cur reduced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network reduced angiogenesis MPheno.ontology MP:0005602 decreased angiogenesis MP:0005602 reduced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network RGD:cur increased size of any of the structural and functional units of the nervous system, which consist of the nerve cell body, the dendrites, and the axon increased nerve cell size increased neuron size neuronal hypertrophy MPheno.ontology MP:0005603 neuron hypertrophy MP:0005603 increased size of any of the structural and functional units of the nervous system, which consist of the nerve cell body, the dendrites, and the axon ISBN:0-683-40008-8 RGD:cur disorder characterized by pathologic startle responses, protective reactions to unanticipated, potentially threatening, stimuli of any type, particularly auditory MPheno.ontology MP:0005604 hyperekplexia MP:0005604 disorder characterized by pathologic startle responses, protective reactions to unanticipated, potentially threatening, stimuli of any type, particularly auditory ISBN:0-683-40008-8 RGD:cur an increase in the total amount of bone tissue contained in the skeleton MPheno.ontology MP:0005605 increased bone mass MP:0005605 an increase in the total amount of bone tissue contained in the skeleton MGI:cwg greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function MPheno.ontology MP:0005606 increased bleeding time MP:0005606 greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function RGD:cur less than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function reduced bleeding time MPheno.ontology MP:0005607 decreased bleeding time MP:0005607 less than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function RGD:cur formation of fibrous tissue within the interstices of the heart as a result of repair or a reactive process interstitial fibrosis of the heart MPheno.ontology MP:0005608 cardiac interstitial fibrosis MP:0005608 formation of fibrous tissue within the interstices of the heart as a result of repair or a reactive process ISBN:0-683-40008-8 RGD:cur deviation from the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle abnormal circulating level of ADH abnormal circulating level of AVP abnormal circulating level of antidiuretic hormone abnormal circulating level of vasopressin MPheno.ontology MP:0005609 abnormal circulating antidiuretic hormone level MP:0005609 deviation from the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle MESH:D06.472.699.631.692.781 MGI:cwg RGD:cur greater than the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle increased circulating level of ADH increased circulating level of AVP increased circulating level of antidiuretic hormone increased circulating level of vasopressin MPheno.ontology MP:0005610 increased circulating antidiuretic hormone level MP:0005610 greater than the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle MESH:D06.472.699.631.692.781 MGI:cwg RGD:cur less than the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle decreased circulating level of ADH decreased circulating level of AVP decreased circulating level of antidiuretic hormone decreased circulating level of vasopressin reduced circulating antidiuretic hormone level MPheno.ontology MP:0005611 decreased circulating antidiuretic hormone level MP:0005611 less than the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle MESH:D06.472.699.631.692.781 MGI:cwg RGD:cur less likelihood of or resistance to developing a response caused by an Ag-Ab reaction; antibodies are directly or indirectly cytotoxic to antigens on cell surfaces or in connective tissues; most often involves IgG and IgM; complement activation is usually involved decreased susceptibility to antibody-mediated cellular toxicity decreased susceptibility to cytotoxic type hypersensitivity increased resistance to antibody-mediated cellular toxicity increased resistance to cytotoxic type hypersensitivity increased resistance to type II hypersensitivity reaction reduced susceptibility to type II hypersensitivity reaction MPheno.ontology MP:0005612 Examples of this include: autoimmune diseases: autoimmune hemolytic anemias, antibody-dependent cellular cytotoxicity (ADCC), Goodpasture disease, myasthenia gravis, Graves disease, pemphigus, and pemphigoid. decreased susceptibility to type II hypersensitivity reaction MP:0005612 less likelihood of or resistance to developing a response caused by an Ag-Ab reaction; antibodies are directly or indirectly cytotoxic to antigens on cell surfaces or in connective tissues; most often involves IgG and IgM; complement activation is usually involved ISBN:0-397-51047-0 MGI:cwg greater likelihood or resistance to developing a response caused by an Ag-Ab reaction; antibodies are directly or indirectly cytotoxic to antigens on cell surfaces or in connective tissues; most often involves IgG and IgM; complement activation is usually involved decreased resistance to antibody-mediated cellular toxicity decreased resistance to cytotoxic type hypersensitivity decreased resistance to type II hypersensitivity reaction increased susceptibility to antibody-mediated cellular toxicity increased susceptibility to cytotoxic type hypersensitivity MPheno.ontology MP:0005613 Examples of this include: autoimmune diseases: autoimmune hemolytic anemias, antibody-dependent cellular cytotoxicity (ADCC), Goodpasture disease, myasthenia gravis, Graves disease, pemphigus, and pemphigoid. increased susceptibility to type II hypersensitivity reaction MP:0005613 greater likelihood or resistance to developing a response caused by an Ag-Ab reaction; antibodies are directly or indirectly cytotoxic to antigens on cell surfaces or in connective tissues; most often involves IgG and IgM; complement activation is usually involved ISBN:0-397-51047-0 MGI:cwg less likelihood of or resistance to developing tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via Abs encountering circulating Ag; Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury decreased susceptibility to immune complex mediated hypersensitivity increased resistance to immune complex mediated hypersensitivity increased resistance to type III hypersensitivity reaction reduced susceptibility to type III hypersensitivity reaction MPheno.ontology MP:0005614 Examples of this include: Autoimmune diseases: systemic lupus erythematosus (SLE), rheumatoid arthritis, Sjogren syndrome, scleroderma, and glomerulonephritis. decreased susceptibility to type III hypersensitivity reaction MP:0005614 less likelihood of or resistance to developing tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via Abs encountering circulating Ag; Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury ISBN:0-397-51047-0 MGI:cwg greater likelihood of developing tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via antibodies encountering circulating antigen; Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury decreased resistance to immune complex mediated hypersensitivity decreased resistance to type III hypersensitivity reaction increased susceptibility to immune complex mediated hypersensitivity MPheno.ontology MP:0005615 Examples of this include: Autoimmune diseases: systemic lupus erythematosus (SLE), rheumatoid arthritis, Sjogren syndrome, scleroderma, and glomerulonephritis. increased susceptibility to type III hypersensitivity reaction MP:0005615 greater likelihood of developing tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via antibodies encountering circulating antigen; Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury ISBN:0-397-51047-0 MGI:cwg less likelihood of or resistance to developing an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact decreased susceptibility to cell-mediated hypersensitivity decreased susceptibility to delayed type hypersensitivity increased resistance to cell-mediated hypersensitivity increased resistance to delayed type hypersensitivity increased resistance to type IV hypersensitivity reaction reduced susceptibility to type IV hypersensitivity reaction MPheno.ontology MP:0005616 Examples of this include: granulomatous diseases: tuberculosis, and sarcoidosis contact dermatitis: elicited by poison ivy, detergents, clothing, etc. decreased susceptibility to type IV hypersensitivity reaction MP:0005616 less likelihood of or resistance to developing an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact ISBN:0-397-51047-0 MGI:cwg greater likelihood of developing an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact decreased resistance to cell-mediated hypersensitivity decreased resistance to delayed type hypersensitivity decreased resistance to type IV hypersensitivity reaction increased susceptibility to cell-mediated hypersensitivity increased susceptibility to delayed type hypersensitivity MPheno.ontology MP:0005617 Examples of this include: granulomatous diseases: tuberculosis, and sarcoidosis contact dermatitis: elicited by poison ivy, detergents, clothing, etc. increased susceptibility to type IV hypersensitivity reaction MP:0005617 greater likelihood of developing an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact ISBN:0-397-51047-0 MGI:cwg less than the normal amount of potassium in the urine MP:0006314 decreased potassium excretion reduced potassium excretion reduced urine potassium level MPheno.ontology MP:0005618 decreased urine potassium level MP:0005618 less than the normal amount of potassium in the urine RGD:cur https://orcid.org/0000-0003-3691-0324 greater than normal amount of potassium in the urine MP:0006313 increased potassium excretion MPheno.ontology MP:0005619 increased urine potassium level MP:0005619 greater than normal amount of potassium in the urine RGD:cur aberrant ability of a muscle to shorten or to develop increased tension MPheno.ontology MP:0005620 abnormal muscle contractility MP:0005620 aberrant ability of a muscle to shorten or to develop increased tension ISBN:0-683-40008-8 any functional anomaly of the vital processes of the cell MPheno.ontology MP:0005621 abnormal cell physiology MP:0005621 any functional anomaly of the vital processes of the cell ISBN:0-683-40008-8 MGI:hdene true MP:0005622 any structural anomaly in any of the membranes covering the spinal cord and brain, including the dura mater (external), arachnoid (middle), and pia mater (internal) MPheno.ontology MP:0005623 abnormal meninges morphology MP:0005623 any structural anomaly in any of the membranes covering the spinal cord and brain, including the dura mater (external), arachnoid (middle), and pia mater (internal) ISBN:0-683-40008-8 https://orcid.org/0000-0003-4606-0597 measurement of the interval between the sum of routinely measured cations minus the sum of the routinely measured anions in the blood; the anion gap = (Na+ + K+) - (Cl- + HCO3-) where Na- is sodium, K+ is potassium, Cl- is chloride, and HCO3- is bicarbonate MPheno.ontology MP:0005624 abnormal plasma anion gap MP:0005624 measurement of the interval between the sum of routinely measured cations minus the sum of the routinely measured anions in the blood; the anion gap = (Na+ + K+) - (Cl- + HCO3-) where Na- is sodium, K+ is potassium, Cl- is chloride, and HCO3- is bicarbonate RGD:cur greater than the normal interval between the sum of routinely measured cations minus the sum of the routinely measured anions in the blood; the anion gap = (Na+ + K+) - (Cl- + HCO3-) where Na- is sodium, K+ is potassium, Cl- is chloride, and HCO3- is bicarbonate; high anion gap is indicative of metabolic acidosis high anion gap MPheno.ontology MP:0005625 increased plasma anion gap MP:0005625 greater than the normal interval between the sum of routinely measured cations minus the sum of the routinely measured anions in the blood; the anion gap = (Na+ + K+) - (Cl- + HCO3-) where Na- is sodium, K+ is potassium, Cl- is chloride, and HCO3- is bicarbonate; high anion gap is indicative of metabolic acidosis RGD:cur less than the normal interval between the sum of routinely measured cations minus the sum of the routinely measured anions in the blood; the anion gap = (Na+ + K+) - (Cl- + HCO3-) where Na- is sodium, K+ is potassium, Cl- is chloride, and HCO3- is bicarbonate; low anion gap is relatively rare but may occur from the presence of abnormal positively charged proteins, as in multiple myeloma low anion gap reduced plasma anion gap MPheno.ontology MP:0005626 decreased plasma anion gap MP:0005626 less than the normal interval between the sum of routinely measured cations minus the sum of the routinely measured anions in the blood; the anion gap = (Na+ + K+) - (Cl- + HCO3-) where Na- is sodium, K+ is potassium, Cl- is chloride, and HCO3- is bicarbonate; low anion gap is relatively rare but may occur from the presence of abnormal positively charged proteins, as in multiple myeloma RGD:cur greater than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle increased blood potassium level MPheno.ontology MP:0005627 increased circulating potassium level MP:0005627 greater than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle RGD:cur less than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle decreased blood potassium level reduced circulating potassium level MPheno.ontology MP:0005628 decreased circulating potassium level MP:0005628 less than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle RGD:cur anomaly in the average weight of the lung MPheno.ontology MP:0005629 abnormal lung weight MP:0005629 anomaly in the average weight of the lung RGD:cur greater than average weight of the lung MPheno.ontology MP:0005630 increased lung weight MP:0005630 greater than average weight of the lung RGD:cur reduced average weight of the lung reduced lung weight MPheno.ontology MP:0005631 decreased lung weight MP:0005631 reduced average weight of the lung RGD:cur less than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction decreased AST level reduced AST level decreased circulating AAT level decreased circulating ASAT level decreased circulating SGOT level decreased circulating aspartate aminotransferase level decreased circulating serum glutamic oxaloacetic transaminase level reduced circulating AAT level reduced circulating ASAT level reduced circulating SGOT level reduced circulating aspartate aminotransferase level reduced circulating aspartate transaminase level reduced circulating serum glutamic oxaloacetic transaminase level MPheno.ontology MP:0005632 decreased circulating aspartate transaminase level MP:0005632 less than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction ISBN:0-683-40008-8 RGD:cur greater than the normal concentration in the blood of this metallic element, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume hypernatraemia hypernatremia MPheno.ontology MP:0005633 increased circulating sodium level MP:0005633 greater than the normal concentration in the blood of this metallic element, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume ISBN:0-683-40008-8 RGD:cur less than the normal concentration in the blood of this metallic element, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume hyponatraemia hyponatremia reduced circulating sodium level MPheno.ontology MP:0005634 decreased circulating sodium level MP:0005634 less than the normal concentration in the blood of this metallic element, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume ISBN:0-683-40008-8 RGD:cur reduced concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells hypobilirubinaemia hypobilirubinemia reduced circulating bilirubin level MPheno.ontology MP:0005635 decreased circulating bilirubin level MP:0005635 reduced concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells ISBN:0-683-40008-8 RGD:cur https://orcid.org/0000-0003-3691-0324 anomaly in the processes involved in the maintenance of an internal equilibrium of inorganic substances that have importance in body functions MPheno.ontology MP:0005636 abnormal mineral homeostasis MP:0005636 anomaly in the processes involved in the maintenance of an internal equilibrium of inorganic substances that have importance in body functions ISBN:0-683-40008-8 MGI:cwg anomaly in the processes involved in the maintenance of an internal equilibrium of iron that normally is a cofactor in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes MPheno.ontology MP:0005637 abnormal iron homeostasis MP:0005637 anomaly in the processes involved in the maintenance of an internal equilibrium of iron that normally is a cofactor in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes ISBN:0-683-40008-8 disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary haemochromatosis MPheno.ontology MP:0005638 hemochromatosis MP:0005638 disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary MESH:C16.320.565.618.337 condition in which there is a generalized increase in the iron stores of body tissues, particularly of liver and the reticuloendothelial system, without demonstrable tissue damage haemosiderosis MPheno.ontology MP:0005639 hemosiderosis MP:0005639 condition in which there is a generalized increase in the iron stores of body tissues, particularly of liver and the reticuloendothelial system, without demonstrable tissue damage MESH:C18.452.565.500.500 deviation from the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices abnormal MCHC abnormal mean corpuscular haemoglobin concentration MPheno.ontology MP:0005640 Mean corpuscular hemoglobin concentration (MCHC) is a standard measurement in clinical chemistry, usually reported in g/L or g/dL. abnormal mean corpuscular hemoglobin concentration MP:0005640 deviation from the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices ISBN:0-683-40008-8 greater than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices high MCHC high mean corpuscular haemoglobin concentration high mean corpuscular hemoglobin concentration increased MCHC increased mean corpuscular haemoglobin concentration MPheno.ontology MP:0005641 Mean corpuscular hemoglobin concentration (MCHC) is a standard measurement in clinical chemistry, usually reported in g/L or g/dL. increased mean corpuscular hemoglobin concentration MP:0005641 greater than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices ISBN:0-683-40008-8 less than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices decreased MCHC decreased mean corpuscular haemoglobin concentration low MCHC low mean corpuscular haemoglobin concentration low mean corpuscular hemoglobin concentration reduced mean corpuscular haemoglobin concentration reduced mean corpuscular hemoglobin concentration MPheno.ontology MP:0005642 Mean corpuscular hemoglobin concentration (MCHC) is a standard measurement in clinical chemistry, usually reported in g/L or g/dL. decreased mean corpuscular hemoglobin concentration MP:0005642 less than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices ISBN:0-683-40008-8 less than the normal amount of this catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary reduced dopamine level MPheno.ontology MP:0005643 decreased dopamine level MP:0005643 less than the normal amount of this catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary MESH:D02.092.211.215.311.342 denoting the absence of gonads MPheno.ontology MP:0005644 agonadal MP:0005644 denoting the absence of gonads MGI:llw2 any functional anomaly of the ventral and medial region of the diencephalon forming the walls of the ventral half of the third ventricle, which is normally involved in the functions of the autonomic (visceral motor) nervous system and, through its vascular link with the anterior lobe of the pituitary gland, in endocrine mechanisms MPheno.ontology MP:0005645 abnormal hypothalamus physiology MP:0005645 any functional anomaly of the ventral and medial region of the diencephalon forming the walls of the ventral half of the third ventricle, which is normally involved in the functions of the autonomic (visceral motor) nervous system and, through its vascular link with the anterior lobe of the pituitary gland, in endocrine mechanisms ISBN:0-683-40008-8 any functional anomaly of this unpaired compound gland suspended from the base of the hypothalamus by a short extension of the infundibulum, the infundibular or pituitary stalk MPheno.ontology abnormal pituitary physiology MP:0005646 abnormal pituitary gland physiology MP:0005646 any functional anomaly of this unpaired compound gland suspended from the base of the hypothalamus by a short extension of the infundibulum, the infundibular or pituitary stalk ISBN:0-683-40008-8 any functional anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction abnormal genitalia gland physiology abnormal gland of genitalia physiology abnormal reproductive gland physiology abnormal reproductive system gland physiology abnormal sex gland function MPheno.ontology MP:0005647 abnormal sex gland physiology MP:0005647 any functional anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction MGI:cwg replacement of cardiomyocytes in the right ventricle with fibrous tissue and/or fat right ventricle degeneration right ventricular degeneration MPheno.ontology heart right ventricular degeneration MP:0005648 heart right ventricle degeneration MP:0005648 replacement of cardiomyocytes in the right ventricle with fibrous tissue and/or fat https://orcid.org/0000-0003-4606-0597 greater than the expected number of a neoplasm of the spleen, occurring in a specific population in a given time period MPheno.ontology neoplastic spleen spleen neoplasia spleen neoplasm MP:0005649 increased spleen neoplasm incidence MP:0005649 greater than the expected number of a neoplasm of the spleen, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 any structural anomaly of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs MPheno.ontology MP:0005650 abnormal limb bud morphology MP:0005650 any structural anomaly of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs MESH:A16.567 MGI:hdene any structural anomaly of the undifferentiated mesoderm that gives rise to the gonads abnormal gonad mesenchyme MPheno.ontology MP:0005651 abnormal gonad rudiment morphology MP:0005651 any structural anomaly of the undifferentiated mesoderm that gives rise to the gonads MGI:llw2 development of the reproductive system is inconsistent with the chromosomal sex MPheno.ontology MP:0005652 sex reversal MP:0005652 development of the reproductive system is inconsistent with the chromosomal sex MGI:llw2 condition caused by overexposure to UV light or from the combination of exposure to specific wavelengths and a phototoxic substance MPheno.ontology MP:0005653 phototoxicity MP:0005653 condition caused by overexposure to UV light or from the combination of exposure to specific wavelengths and a phototoxic substance ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 acquired or inherited group of disorders characterized by excessive production of porphyrins or their precursors; if acquired, it results from inhibition of enzymes in the heme metabolic pathway by drugs, toxins or abnormal metabolites MPheno.ontology MP:0005654 porphyria MP:0005654 acquired or inherited group of disorders characterized by excessive production of porphyrins or their precursors; if acquired, it results from inhibition of enzymes in the heme metabolic pathway by drugs, toxins or abnormal metabolites MESH:C16.320.565.708 https://orcid.org/0000-0002-6490-7723 when compared to controls, subjects exhibit greater than the normal level of domineering, assault posture and/or hostile physical action MPheno.ontology MP:0005655 increased aggression MP:0005655 when compared to controls, subjects exhibit greater than the normal level of domineering, assault posture and/or hostile physical action ISBN:0-683-40008-8 MGI:cwg when compared to controls, subjects exhibit less than the normal level of domineering, assault posture and/or hostile physical action reduced aggression MPheno.ontology MP:0005656 decreased aggression MP:0005656 when compared to controls, subjects exhibit less than the normal level of domineering, assault posture and/or hostile physical action ISBN:0-683-40008-8 MGI:cwg any structural anomaly of the flat, thickened layer of ectodermal cells in the neuroectodermal area of the embryo's dorsal surface that develops into the neural tube and neural crest MPheno.ontology MP:0005657 abnormal neural plate morphology MP:0005657 any structural anomaly of the flat, thickened layer of ectodermal cells in the neuroectodermal area of the embryo's dorsal surface that develops into the neural tube and neural crest ISBN:0-683-40008-8 MGI:hdene more likely to become excessively overweight or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat decreased resistance to diet-induced obesity MPheno.ontology MP:0005658 increased susceptibility to diet-induced obesity MP:0005658 more likely to become excessively overweight or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat MGI:cwg less likely to become excessively overweight or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat increased resistance to diet-induced obesity MPheno.ontology MP:0005659 decreased susceptibility to diet-induced obesity MP:0005659 less likely to become excessively overweight or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat MGI:cwg aberrant concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels MPheno.ontology MP:0005660 abnormal circulating adrenaline level MP:0005660 aberrant concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels MESH:D02.033.100.291.310 https://orcid.org/0000-0002-0371-1954 less than the normal concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels decreased circulating epinephrine level reduced circulating adrenaline level MPheno.ontology MP:0005661 decreased circulating adrenaline level MP:0005661 less than the normal concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels MESH:D02.033.100.291.310 https://orcid.org/0000-0002-0371-1954 greater than the normal concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels increased circulating epinephrine level MPheno.ontology MP:0005662 increased circulating adrenaline level MP:0005662 greater than the normal concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels MESH:D02.033.100.291.310 https://orcid.org/0000-0002-0371-1954 aberrant blood amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine abnormal circulating norepinephrine level MPheno.ontology MP:0005663 abnormal circulating noradrenaline level MP:0005663 aberrant blood amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine ISBN:0198506732 less than the normal blood amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine decreased circulating norepinephrine level reduced circulating noradrenaline level MPheno.ontology MP:0005664 decreased circulating noradrenaline level MP:0005664 less than the normal blood amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine ISBN:0198506732 greater than the normal blood amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine increased circulating norepinephrine level MPheno.ontology MP:0005665 increased circulating noradrenaline level MP:0005665 greater than the normal blood amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine ISBN:0198506732 any functional anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue MPheno.ontology MP:0005666 abnormal adipose tissue physiology MP:0005666 any functional anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue MESH:A10.165.114 MGI:cwg anomaly in the blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance MPheno.ontology MP:0005667 abnormal circulating leptin level MP:0005667 anomaly in the blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance MESH:D06.472.699.042.500 less than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance hypoleptinaemia hypoleptinemia reduced circulating leptin level MPheno.ontology MP:0005668 decreased circulating leptin level MP:0005668 less than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance MESH:D06.472.699.042.500 greater than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance hyperleptinaemia hyperleptinemia MPheno.ontology MP:0005669 increased circulating leptin level MP:0005669 greater than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance MESH:D06.472.699.042.500 any functional anomaly in the connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels MPheno.ontology abnormal white fat physiology MP:0005670 abnormal white adipose tissue physiology MP:0005670 any functional anomaly in the connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels ISBN:0-683-40008-8 anomaly in the body's reaction to the grafting of organs, tissues, or cells taken from the same individual for another area of the body or from another individual abnormal response to cell transplant abnormal response to organ graft abnormal response to tissue graft MPheno.ontology MP:0005671 abnormal response to transplant MP:0005671 anomaly in the body's reaction to the grafting of organs, tissues, or cells taken from the same individual for another area of the body or from another individual MESH:E07.945 MGI:cwg greater likelihood of developing clinical symptoms of anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the a graft versus host reaction, which is an immunological attack mounted by a graft against the host because of tissue incompatibility when immunologically competent cells are transplanted to an immunologically incompetent host decreased resistance to GVHD decreased resistance to graft versus host disease decreased resistance to graft vs host disease increased susceptibility to GVHD increased susceptibility to graft vs host disease MPheno.ontology MP:0005672 increased susceptibility to graft versus host disease MP:0005672 greater likelihood of developing clinical symptoms of anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the a graft versus host reaction, which is an immunological attack mounted by a graft against the host because of tissue incompatibility when immunologically competent cells are transplanted to an immunologically incompetent host MESH:C20.452 MGI:cwg less likelihood of developing clinical symptoms of anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the a graft versus host reaction, which is an immunological attack mounted by a graft against the host because of tissue incompatibility when immunologically competent cells are transplanted to an immunologically incompetent host decreased susceptibility to GVHD decreased susceptibility to graft vs host disease increased resistance to GVHD increased resistance to graft versus host disease increased resistance to graft vs host disease reduced susceptibility to graft versus host disease MPheno.ontology MP:0005673 decreased susceptibility to graft versus host disease MP:0005673 less likelihood of developing clinical symptoms of anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the a graft versus host reaction, which is an immunological attack mounted by a graft against the host because of tissue incompatibility when immunologically competent cells are transplanted to an immunologically incompetent host MESH:C20.452 MGI:cwg true MP:0005674 reduced size of the gall bladder, the organ that serves as a storage reservoir for bile decreased gallbladder size small cholecyst small gall bladder MPheno.ontology MP:0005675 small gallbladder MP:0005675 reduced size of the gall bladder, the organ that serves as a storage reservoir for bile ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the smooth stratified squamous epithelium that covers the outer surface of the cornea abnormal corneal epithelium morphology MPheno.ontology MP:0006000 abnormal cornea epithelium morphology MP:0006000 any structural anomaly of the smooth stratified squamous epithelium that covers the outer surface of the cornea MESH:A09.371.060.217.325 https://orcid.org/0000-0003-4606-0597 any anomaly in the time it takes for a bolus of material to pass through the intestine MPheno.ontology MP:0006001 abnormal intestinal transit time MP:0006001 any anomaly in the time it takes for a bolus of material to pass through the intestine https://orcid.org/0000-0003-4606-0597 increase or decrease in the time it takes for a bolus of material to pass through the small intestine MPheno.ontology MP:0006002 abnormal small intestinal transit time MP:0006002 increase or decrease in the time it takes for a bolus of material to pass through the small intestine https://orcid.org/0000-0003-4606-0597 any anomaly in the time it takes for a bolus of material to pass through the large intestine MPheno.ontology MP:0006003 abnormal large intestinal transit time MP:0006003 any anomaly in the time it takes for a bolus of material to pass through the large intestine https://orcid.org/0000-0003-4606-0597 OBSOLETE. any structural anomaly of neurons that exclusively interact with other neurons MPheno.ontology MP:0006004 obsolete abnormal interneuron morphology true MP:0006004 OBSOLETE. any structural anomaly of neurons that exclusively interact with other neurons https://orcid.org/0000-0003-4606-0597 OBSOLETE. fewer than normal number of neurons that interact only with other neurons reduced interneuron number MPheno.ontology MP:0006005 obsolete decreased interneuron number true MP:0006005 OBSOLETE. fewer than normal number of neurons that interact only with other neurons https://orcid.org/0000-0003-4606-0597 greater than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses MPheno.ontology MP:0006006 increased sensory neuron number MP:0006006 greater than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses https://orcid.org/0000-0003-4606-0597 any structural anomaly of any of a group of nuclei associated with the ability to carry out willed movements, including the caudate, putamen, nucleus accumbens, globus pallidus, substantia nigra, and subthalamic nucleus abnormal basal ganglia morphology MPheno.ontology MP:0006007 abnormal basal ganglion morphology MP:0006007 any structural anomaly of any of a group of nuclei associated with the ability to carry out willed movements, including the caudate, putamen, nucleus accumbens, globus pallidus, substantia nigra, and subthalamic nucleus https://orcid.org/0000-0003-4606-0597 true MP:0006008 any anomaly in the movement of immature neurons from germinal zones to specific positions where they will reside as they mature MPheno.ontology MP:0006009 abnormal neuronal migration MP:0006009 any anomaly in the movement of immature neurons from germinal zones to specific positions where they will reside as they mature http://purl.obolibrary.org/obo/GO_0001764 https://orcid.org/0000-0003-4606-0597 absence of the melanocytes (i.e. crest-derived intermediate cells) normally located within the intrastrial space; loss of strial intermediate cells is known to lead to loss of the endocochlear potential absent cochlear melanocyte absent stria vascularis melanocytes absent strial melanocytes MPheno.ontology MP:0006010 absent strial intermediate cells MP:0006010 absence of the melanocytes (i.e. crest-derived intermediate cells) normally located within the intrastrial space; loss of strial intermediate cells is known to lead to loss of the endocochlear potential https://orcid.org/0000-0002-6490-7723 any structural anomaly of the small membranous canal, connecting with both saccule and utricle of the membranous labyrinth, passing through the aqueduct of vestibule, and terminating in the endolymphatic sac abnormal ductus endolymphaticus morphology MPheno.ontology MP:0006011 abnormal endolymphatic duct morphology MP:0006011 any structural anomaly of the small membranous canal, connecting with both saccule and utricle of the membranous labyrinth, passing through the aqueduct of vestibule, and terminating in the endolymphatic sac https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 stretched or widened aperture of the luminal space of the endolymphatic duct dilated endolymphatic ducts endolymphatic duct dilation inner ear hydrops MPheno.ontology MP:0006012 dilated endolymphatic duct MP:0006012 stretched or widened aperture of the luminal space of the endolymphatic duct PMID:11152663 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 absence of the dilated blind extremity of the endolymphatic duct, which lies external to the dura on the posterior aspect of the petrous part of the temporal bone absent Bottcher space absent Cotunnius space absent sacculus endolymphaticus absent saccus endolymphaticu MPheno.ontology MP:0006013 absent endolymphatic sac MP:0006013 absence of the dilated blind extremity of the endolymphatic duct, which lies external to the dura on the posterior aspect of the petrous part of the temporal bone PMID:1346922 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 stretched or widened aperture of the luminal space of the endolymphatic sac dilated endolymphatic sacs endolymphatic sac dilation MPheno.ontology MP:0006014 dilated endolymphatic sac MP:0006014 stretched or widened aperture of the luminal space of the endolymphatic sac PMID:11152663 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 stretched or widened aperture of the luminal space of the lateral semicircular canal dilated horizontal semicircular canal dilated horizontal semicircular canals dilated lateral semicircular canals horizontal semicircular canal dilation lateral semicircular canal dilation MPheno.ontology MP:0006015 dilated lateral semicircular canal MP:0006015 stretched or widened aperture of the luminal space of the lateral semicircular canal https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 stretched or widened aperture of the luminal space of the posterior semicircular canal dilated posterior semicircular canals posterior semicircular canal dilation MPheno.ontology MP:0006016 dilated posterior semicircular canal MP:0006016 stretched or widened aperture of the luminal space of the posterior semicircular canal PMID:11152663 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 stretched or widened aperture of the luminal space of one or both of the superior semicircular canals anterior semicircular canal dilation dilated anterior semicircular canal dilated anterior semicircular canals dilated superior semicircular canals superior semicircular canal dilation MPheno.ontology MP:0006017 dilated superior semicircular canal MP:0006017 stretched or widened aperture of the luminal space of one or both of the superior semicircular canals PMID:11152663 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the thin, tense membrane forming the greater part of the lateral wall of the tympanic cavity and separating it from the external acoustic meatus; the tympanic membrane constitutes the boundary between the external and middle ear abnormal drum membrane morphology abnormal membrana tympani morphology abnormal myringa morphology abnormal myrinx morphology MPheno.ontology abnormal eardrum morphology MP:0006018 abnormal tympanic membrane morphology MP:0006018 any structural anomaly of the thin, tense membrane forming the greater part of the lateral wall of the tympanic cavity and separating it from the external acoustic meatus; the tympanic membrane constitutes the boundary between the external and middle ear https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 absence of the thin, tense membrane forming the greater part of the lateral wall of the tympanic cavity and separating it from the external acoustic meatus; the tympanic membrane constitutes the boundary between the external and middle ear MPheno.ontology absent eardrum MP:0006019 absent tympanic membrane MP:0006019 absence of the thin, tense membrane forming the greater part of the lateral wall of the tympanic cavity and separating it from the external acoustic meatus; the tympanic membrane constitutes the boundary between the external and middle ear https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 smaller than average tympanic ring decreased size of tympanic ring reduced size of tympanic ring MPheno.ontology MP:0006020 decreased tympanic ring size MP:0006020 smaller than average tympanic ring https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the membrane which separates the cochlear duct from the vestibular canal, i.e. the endolymph of the scala media from the perilymph of the scala vestibuli; the Reissner membrane consists of squamous epithelial cells with microvilli toward the ductus, a basement membrane, and a thin layer of connective tissue toward the scala abnormal Reissner's membrane morphology abnormal membrana vestibularis ductus cochlearis morphology abnormal paries vestibularis ductus cochlearis morphology abnormal vestibular membrane morphology abnormal vestibular wall of cochlear duct morphology MPheno.ontology MP:0006021 abnormal Reissner membrane morphology MP:0006021 any structural anomaly of the membrane which separates the cochlear duct from the vestibular canal, i.e. the endolymph of the scala media from the perilymph of the scala vestibuli; the Reissner membrane consists of squamous epithelial cells with microvilli toward the ductus, a basement membrane, and a thin layer of connective tissue toward the scala https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 loss of the membrane which separates the cochlear duct from the vestibular canal absent Reissner's membrane MPheno.ontology MP:0006022 absent Reissner membrane MP:0006022 loss of the membrane which separates the cochlear duct from the vestibular canal https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 partial or complete loss of connection between the membrane and the stria vascularis, the periosteum covering the lamina spiralis ossea, or both detached Reissner's membrane MPheno.ontology MP:0006023 detached Reissner membrane MP:0006023 partial or complete loss of connection between the membrane and the stria vascularis, the periosteum covering the lamina spiralis ossea, or both https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 the Reissner's membrane, which normally separates the scala media from the scala vestibuli, has collapsed onto the spiral limbus and the tectorial membrane of the organ of Corti collapsed Reissner's membrane MPheno.ontology MP:0006024 collapsed Reissner membrane MP:0006024 the Reissner's membrane, which normally separates the scala media from the scala vestibuli, has collapsed onto the spiral limbus and the tectorial membrane of the organ of Corti https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 an increase in the volume of endolymphatic fluid that results in distortion of the vestibular membrane distended Reissner's membrane MPheno.ontology MP:0006025 distended Reissner membrane MP:0006025 an increase in the volume of endolymphatic fluid that results in distortion of the vestibular membrane https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 stretched or widened aperture of the luminal space of one or more of the terminal bronchiole tubes dilated terminal bronchiole tubes dilated terminal lung bud dilated terminal lung buds terminal bronchiole tube dilation MPheno.ontology MP:0006026 dilated terminal bronchiole tube MP:0006026 stretched or widened aperture of the luminal space of one or more of the terminal bronchiole tubes PMID:14499643 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 a block or reduction in the formation of the sacs for holding air in the lungs, which are formed by the terminal dilation of air passageways impaired alveolarization impaired respiratory alveologenesis reduced alveolar formation reduced alveolarization MPheno.ontology MP:0006027 impaired lung alveolus development MP:0006027 a block or reduction in the formation of the sacs for holding air in the lungs, which are formed by the terminal dilation of air passageways GO:0048286 OBSOLETE. a block or reduction in the morphogenesis of the bronchioles MP:0011024 reduced bronchiole branching MPheno.ontology MP:0006028 Instead use abnormal branching involved in lung morphogenesis MP:0011024 and children of this term. obsolete impaired bronchiole branching true MP:0006028 OBSOLETE. a block or reduction in the morphogenesis of the bronchioles https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the group of mesenchymal cells that emerge from the ventromedial part of a somite and migrate toward the notochord; normally, sclerotomal cells from adjacent somites become merged in intersomitically located masses that are the primordia of the centra of the vertebrae MPheno.ontology MP:0006029 abnormal sclerotome morphology MP:0006029 any structural anomaly of the group of mesenchymal cells that emerge from the ventromedial part of a somite and migrate toward the notochord; normally, sclerotomal cells from adjacent somites become merged in intersomitically located masses that are the primordia of the centra of the vertebrae ISBN:0803606559 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 anomaly in the formation of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear abnormal acoustic vesicle development abnormal acoustic vesicle formation abnormal auditory vesicle development abnormal auditory vesicle formation abnormal otic vesicle formation abnormal otocyst formation MPheno.ontology MP:0006030 abnormal otic vesicle development MP:0006030 anomaly in the formation of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear PMID:10471511 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the balloonlike diverticulae of the embryonic pharyngeal endoderm that line the inside of the branchial arches; these paired endodermal evaginations develop in a craniocaudal sequence between the branchial arches, e.g. pouch 1 lies between arches 1 and 2; in mammals, there are four well-developed pairs of pouches (the fifth and sixth pair is vestigial or absent); the pouch endoderm reaches the branchial groove ectoderm to form the double-layer branchial membranes that separate them abnormal branchial pouch morphology abnormal endodermal pouch morphology MPheno.ontology MP:0006031 abnormal pharyngeal pouch morphology MP:0006031 any structural anomaly of the balloonlike diverticulae of the embryonic pharyngeal endoderm that line the inside of the branchial arches; these paired endodermal evaginations develop in a craniocaudal sequence between the branchial arches, e.g. pouch 1 lies between arches 1 and 2; in mammals, there are four well-developed pairs of pouches (the fifth and sixth pair is vestigial or absent); the pouch endoderm reaches the branchial groove ectoderm to form the double-layer branchial membranes that separate them PMID:20144910 http://discovery.lifemapsc.com/library/review-of-medical-embryology/chapter-50-the-pharyngeal-clefts-and-pouches https://www.inkling.com/read/before-we-are-born-moore-persaud-torchia-8th/chapter-10/pharyngeal-pouches any structural anomaly of the epithelial swelling on the metanephric duct that elongates to invade the adjacent metanephric mesenchyme; interactions between the ureteric bud and the metanephric mesenchyme leads to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue abnormal UB morphology abnormal mesonephric diverticulum morphology MPheno.ontology MP:0006032 abnormal ureteric bud morphology MP:0006032 any structural anomaly of the epithelial swelling on the metanephric duct that elongates to invade the adjacent metanephric mesenchyme; interactions between the ureteric bud and the metanephric mesenchyme leads to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue PMID:19828308 any structural anomaly of the canal that connects the outer and middle ear abnormal external meatus MPheno.ontology MP:0006033 abnormal external auditory canal morphology MP:0006033 any structural anomaly of the canal that connects the outer and middle ear PMID:10471511 https://orcid.org/0000-0003-4606-0597 presence of myoglobin in the urine increased urine myoglobin level MPheno.ontology MP:0006034 myoglobinuria MP:0006034 presence of myoglobin in the urine RGD:cur https://orcid.org/0000-0003-4606-0597 any structural anomaly of the semiautonomous, self replicating organelles that occur in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells; mitochondria are notably the site of tissue respiration abnormal mitochondria morphology abnormal mitochondrion morphology MPheno.ontology MP:0006035 abnormal mitochondrial morphology MP:0006035 any structural anomaly of the semiautonomous, self replicating organelles that occur in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells; mitochondria are notably the site of tissue respiration GO:0005739 any functional anomaly of the cellular organelles responsible for energy production MPheno.ontology MP:0006036 abnormal mitochondrial physiology MP:0006036 any functional anomaly of the cellular organelles responsible for energy production https://orcid.org/0000-0003-4606-0597 anomaly in the expansion rate of the cellular organelles responsible for energy production by division abnormal mitochondrial proliferation MPheno.ontology MP:0006037 abnormal mitochondrial fission MP:0006037 anomaly in the expansion rate of the cellular organelles responsible for energy production by division https://orcid.org/0000-0003-4606-0597 increase in the expansion rate of the cellular organelles responsible for energy production by division increased mitochondrial proliferation MPheno.ontology MP:0006038 increased mitochondrial fission MP:0006038 increase in the expansion rate of the cellular organelles responsible for energy production by division https://orcid.org/0000-0003-4606-0597 reduction in the expansion rate of the cellular organelles responsible for energy production by division decreased mitochondrial proliferation reduced mitochondrial fission reduced mitochondrial proliferation MPheno.ontology MP:0006039 decreased mitochondrial fission MP:0006039 reduction in the expansion rate of the cellular organelles responsible for energy production by division https://orcid.org/0000-0003-4606-0597 OBSOLETE. greater than normal activity of the process in mitochondria that produces ATP MP:0010951 MP:0010954 MP:0010959 increased oxidative phosphorylation MPheno.ontology MP:0006040 obsolete increased mitochondrial oxidation true MP:0006040 OBSOLETE. greater than normal activity of the process in mitochondria that produces ATP https://orcid.org/0000-0003-4606-0597 OBSOLETE. less than normal activity of the mitochondrial process that produces ATP MP:0010951 MP:0010954 MP:0010959 MPheno.ontology MP:0006041 obsolete decreased mitochondrial oxidation true MP:0006041 OBSOLETE. less than normal activity of the mitochondrial process that produces ATP RGD:cur https://orcid.org/0000-0003-4606-0597 greater than normal programmed cell death MPheno.ontology MP:0006042 increased apoptosis MP:0006042 greater than normal programmed cell death RGD:cur https://orcid.org/0000-0003-4606-0597 less than normal cell death reduced apoptosis MPheno.ontology MP:0006043 decreased apoptosis MP:0006043 less than normal cell death RGD:cur https://orcid.org/0000-0003-4606-0597 the backward reflux of blood through the tricuspid valve, due to insufficiency caused by disease, aging or congenital malformation Fyler:1161 right AV valve insufficiency right AV valve regurgitation right atrioventricular valve insufficiency right atrioventricular valve regurgitation tricuspid regurgitation tricuspid valve insufficiency MPheno.ontology MP:0006044 tricuspid valve regurgitation MP:0006044 the backward reflux of blood through the tricuspid valve, due to insufficiency caused by disease, aging or congenital malformation RGD:cur https://orcid.org/0000-0003-4606-0597 the backward reflux of blood through the mitral valve, due to insufficiency caused by disease, aging or congenital malformation Fyler:1151 bicuspid valve insufficiency left AV valve insufficiency left AV valve regurgitation left atrioventricular valve insufficiency left atrioventricular valve regurgitation mitral regurgitation mitral valve insufficiency MPheno.ontology MP:0006045 mitral valve regurgitation MP:0006045 the backward reflux of blood through the mitral valve, due to insufficiency caused by disease, aging or congenital malformation RGD:cur https://orcid.org/0000-0003-4606-0597 the backward reflux of blood through the atrioventricular valve, due to insufficiency caused by disease, aging or congenital malformation AV valve insufficiency AV valve regurgitation AVSD AV valvar regurgitation atrioventricular valve insufficiency MPheno.ontology MP:0006046 atrioventricular valve regurgitation MP:0006046 the backward reflux of blood through the atrioventricular valve, due to insufficiency caused by disease, aging or congenital malformation RGD:cur https://orcid.org/0000-0003-4606-0597 the backward reflux of blood through the aortic valve, due to insufficiency caused by disease, aging or congenital malformation aortic regurgitation aortic semi-lunar valve regurgitation aortic semilunar valve regurgitation aortic valve insufficiency left arterial valve regurgitation left semi-lunar valve regurgitation left semilunar valve regurgitation left ventriculoarterial junction regurgitation MPheno.ontology MP:0006047 aortic valve regurgitation MP:0006047 the backward reflux of blood through the aortic valve, due to insufficiency caused by disease, aging or congenital malformation RGD:cur https://orcid.org/0000-0003-4606-0597 the backward reflux of blood through the pulmonary valve, due to insufficiency caused by disease, aging or congenital malformation pulmonary regurgitation pulmonary valve insufficiency pulmonic valve regurgitation right arterial valve regurgitation right semi-lunar valve regurgitation right semilunar valve regurgitation MPheno.ontology MP:0006048 pulmonary valve regurgitation MP:0006048 the backward reflux of blood through the pulmonary valve, due to insufficiency caused by disease, aging or congenital malformation RGD:cur https://orcid.org/0000-0003-4606-0597 the backward reflux of blood through the semilunar valve(s), due to insufficiency caused by disease, aging or congenital malformation semi-lunar valve insufficiency semi-lunar valve regurgitation semilunar valve insufficiency MPheno.ontology outflow tract regurgitation MP:0006049 semilunar valve regurgitation MP:0006049 the backward reflux of blood through the semilunar valve(s), due to insufficiency caused by disease, aging or congenital malformation https://orcid.org/0000-0003-4606-0597 formation of fibrous tissue within the lung often resulting from inflammation or injury lung fibrosis MPheno.ontology MP:0006050 pulmonary fibrosis MP:0006050 formation of fibrous tissue within the lung often resulting from inflammation or injury RGD:cur https://orcid.org/0000-0003-4606-0597 bleeding into the brain stem brain stem bleeding brain stem haemorrhage brain stem hemorrhage brainstem haemorrhage MPheno.ontology MP:0006051 brainstem hemorrhage MP:0006051 bleeding into the brain stem RGD:cur https://orcid.org/0000-0003-4606-0597 bleeding into the cerebellum cerebellum bleeding cerebellum haemorrhage MPheno.ontology MP:0006052 cerebellum hemorrhage MP:0006052 bleeding into the cerebellum RGD:cur https://orcid.org/0000-0003-4606-0597 bleeding into the hypothalamus hypothalamic bleeding hypothalamus haemorrhage MPheno.ontology MP:0006053 hypothalamus hemorrhage MP:0006053 bleeding into the hypothalamus RGD:cur https://orcid.org/0000-0003-4606-0597 bleeding into the spine spinal bleeding spinal cord haemorrhage spinal cord hemorrhage spinal haemorrhage MPheno.ontology MP:0006054 spinal hemorrhage MP:0006054 bleeding into the spine RGD:cur https://orcid.org/0000-0003-4606-0597 any structural anomaly of the cells that line the vasculature abnormal vascular endothelium MPheno.ontology MP:0006055 abnormal vascular endothelial cell morphology MP:0006055 any structural anomaly of the cells that line the vasculature https://orcid.org/0000-0003-4606-0597 greater than normal number of cells lining the vasculature MPheno.ontology MP:0006056 increased vascular endothelial cell number MP:0006056 greater than normal number of cells lining the vasculature RGD:cur https://orcid.org/0000-0003-4606-0597 less than normal number of cells lining the vasculature reduced vascular endothelial cell number MPheno.ontology MP:0006057 decreased vascular endothelial cell number MP:0006057 less than normal number of cells lining the vasculature RGD:cur https://orcid.org/0000-0003-4606-0597 decreased size of necrotic area of the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply reduced cerebral infarct size MPheno.ontology MP:0006058 decreased cerebral infarct size MP:0006058 decreased size of necrotic area of the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply RGD:cur https://orcid.org/0000-0003-4606-0597 less severe response, such as decreased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of all or part of the brain compared to controls decreased susceptibility to ischaemic brain injury increased resistance to ischaemic brain injury increased resistance to ischemic brain injury reduced susceptibility to ischaemic brain injury reduced susceptibility to ischemic brain injury MPheno.ontology decreased susceptibility to spontaneous CNS ischaemia decreased susceptibility to spontaneous CNS ischemia MP:0006059 decreased susceptibility to ischemic brain injury MP:0006059 less severe response, such as decreased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of all or part of the brain compared to controls https://orcid.org/0000-0002-6490-7723 increased size of necrotic area of the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply MPheno.ontology MP:0006060 increased cerebral infarct size MP:0006060 increased size of necrotic area of the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply RGD:cur https://orcid.org/0000-0003-4606-0597 anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the right side of the body MPheno.ontology MP:0006061 right atrial isomerism MP:0006061 anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the right side of the body https://orcid.org/0000-0003-4606-0597 any structural anomaly of either of the two largest veins in the body abnormal caval vein morphology MPheno.ontology MP:0006062 abnormal vena cava morphology MP:0006062 any structural anomaly of either of the two largest veins in the body ISBN:0803606559 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the principal vein draining blood from the lower portion of the body inferior vena cava anomaly Fyler:2810 abnormal IVC morphology abnormal inferior caval vein morphology MPheno.ontology MP:0006063 abnormal inferior vena cava morphology MP:0006063 any structural anomaly of the principal vein draining blood from the lower portion of the body ISBN:0803606559 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart Fyler:2820 abnormal SVC morphology abnormal precava morphology abnormal superior caval vein morphology MPheno.ontology MP:0006064 abnormal superior vena cava morphology MP:0006064 any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart ISBN:0803606559 https://orcid.org/0000-0003-4606-0597 the heart is displaced from the normal left-sided position and/or orientation MPheno.ontology MP:0006065 abnormal heart position or orientation MP:0006065 the heart is displaced from the normal left-sided position and/or orientation https://orcid.org/0000-0003-4606-0597 slower removal of a thrombus from the atria of the heart reduced clearance of atrial thrombosis MPheno.ontology MP:0006066 decreased clearance of atrial thrombosis MP:0006066 slower removal of a thrombus from the atria of the heart RGD:cur https://orcid.org/0000-0003-4606-0597 faster removal of a thrombus from the atria of the heart MPheno.ontology MP:0006067 increased clearance of atrial thrombosis MP:0006067 faster removal of a thrombus from the atria of the heart RGD:cur https://orcid.org/0000-0003-4606-0597 any structural anomaly of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina abnormal horizontal cell morphology abnormal retinal horizontal cell morphology MPheno.ontology MP:0006068 abnormal retina horizontal cell morphology MP:0006068 any structural anomaly of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina ISBN:0-683-40008-8 https://orcid.org/0000-0003-4606-0597 any structural anomaly of any of the neuronal layers that make up the retina, including the ganglion cell, inner plexiform, inner nuclear, outer plexiform, outer nuclear layers, the inner and outer segments abnormal retinal neuronal layer morphology MPheno.ontology MP:0006069 abnormal retina neuronal layer morphology MP:0006069 any structural anomaly of any of the neuronal layers that make up the retina, including the ganglion cell, inner plexiform, inner nuclear, outer plexiform, outer nuclear layers, the inner and outer segments ISBN:0-914294-08-3 https://orcid.org/0000-0003-4606-0597 greater than the expected number of rods and/or cones increased retinal photoreceptor cell number MPheno.ontology MP:0006070 increased retina photoreceptor cell number MP:0006070 greater than the expected number of rods and/or cones https://orcid.org/0000-0003-4606-0597 any structural anomaly of the cells that give rise to the various cells of the retina abnormal retinal progenitor cell morphology MPheno.ontology MP:0006071 abnormal retina progenitor cell morphology MP:0006071 any structural anomaly of the cells that give rise to the various cells of the retina PMID:15363391 https://orcid.org/0000-0003-4606-0597 change in the timing or the number of cells in the retina undergoing programmed cell death abnormal retinal apoptosis MPheno.ontology MP:0006072 abnormal retina apoptosis MP:0006072 change in the timing or the number of cells in the retina undergoing programmed cell death PMID:15363391 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the cells that transmit signals from the photoreceptors to retinal amacrine and ganglion cells abnormal retinal bipolar cell morphology MPheno.ontology MP:0006073 abnormal retina bipolar cell morphology MP:0006073 any structural anomaly of the cells that transmit signals from the photoreceptors to retinal amacrine and ganglion cells PMID:15363390 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the bipolar cells that function in low light and transmit signals only through amacrine cells abnormal retinal rod bipolar cell morphology MPheno.ontology MP:0006074 abnormal retina rod bipolar cell morphology MP:0006074 any structural anomaly of the bipolar cells that function in low light and transmit signals only through amacrine cells PMID:15363390 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the retinal bipolar cells that connect to both ganglion and amacrine cells abnormal retinal cone bipolar cell morphology MPheno.ontology MP:0006075 abnormal retina cone bipolar cell morphology MP:0006075 any structural anomaly of the retinal bipolar cells that connect to both ganglion and amacrine cells PMID:15363390 https://orcid.org/0000-0003-4606-0597 aberrant amount in the blood of sulfur-containing alpha-amino acid found in the plasma; blood levels are regulated by folic acid, vitamin B6 and vitamin B12 abnormal blood serum homocysteine level MPheno.ontology MP:0006076 A homocysteine measurement is the quantification of homocsyteine in blood or urine and is used in the diagnosis of B12 and/or folate deficiency, and as part of a cardiac risk assessment. abnormal circulating homocysteine level MP:0006076 aberrant amount in the blood of sulfur-containing alpha-amino acid found in the plasma; blood levels are regulated by folic acid, vitamin B6 and vitamin B12 https://orcid.org/0000-0003-3691-0324 hernia through the abdominal wall in the region of the groin known as Hesselbach's triangle MPheno.ontology MP:0006077 inguinal hernia MP:0006077 hernia through the abdominal wall in the region of the groin known as Hesselbach's triangle ISBN:0803606559 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the erectile projection at the apex of the mammary gland where the lactiferous ducts open abnormal papilla mammae morphology abnormal papilla of breast morphology abnormal teat morphology abnormal thele morphology abnormal thelium morphology MPheno.ontology MP:0006078 Variation in number and arrangement of nipples is frequent on some mouse strains. For examples, fewer than five pairs are common in strain A females; more than five pairs in BALB/c females (Little, C.C., and H. MacDonald. 1945. Abnormalities of the mammae in the house mouse. J. Hered. 36: 285-288.) abnormal nipple morphology MP:0006078 any structural anomaly of the erectile projection at the apex of the mammary gland where the lactiferous ducts open ISBN:0-683-40008-8 ISBN:0803606559 true MP:0006079 inadequate blood flow to a region of the brain that may lead to cerebral infarction brain ischaemia cerebral ischaemia cerebral ischemia MPheno.ontology ischaemic stroke ischemic stroke MP:0006080 brain ischemia MP:0006080 inadequate blood flow to a region of the brain that may lead to cerebral infarction NCBI:matt https://orcid.org/0000-0003-4606-0597 true MP:0006081 local accumulation of fluid, plasma proteins, and leukocytes in the brain and/or spinal cord encephalomyelitis MPheno.ontology MP:0006082 CNS inflammation MP:0006082 local accumulation of fluid, plasma proteins, and leukocytes in the brain and/or spinal cord NCBI:matt https://orcid.org/0000-0003-4606-0597 any structural anomaly of the elastic tissue layer that lines a blood vessel layer MA:0002856 abnormal elastic laminae morphology abnormal vascular elastic tissue morphology MPheno.ontology MP:0006083 abnormal blood vessel elastic tissue morphology MP:0006083 any structural anomaly of the elastic tissue layer that lines a blood vessel layer https://orcid.org/0000-0003-3691-0324 any anomaly in the concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group MPheno.ontology MP:0006084 abnormal circulating phospholipid level MP:0006084 any anomaly in the concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group NCBI:matt https://orcid.org/0000-0003-4606-0597 morphological changes resulting from pathological death of myocardial tissue; usually due to irreversible damage myocardial necrosis necrotic myocardium MPheno.ontology MP:0006085 myocardium necrosis MP:0006085 morphological changes resulting from pathological death of myocardial tissue; usually due to irreversible damage ISBN:0-683-40008-8 less than normal average of a measure of weight for height decreased BMI reduced BMI reduced body mass index MPheno.ontology MP:0006086 decreased body mass index MP:0006086 less than normal average of a measure of weight for height NCBI:matt https://orcid.org/0000-0003-4606-0597 greater than normal average of a measure of weight for height increased BMI MPheno.ontology MP:0006087 increased body mass index MP:0006087 greater than normal average of a measure of weight for height NCBI:matt https://orcid.org/0000-0003-4606-0597 anomaly in the function of the group of barriers and transport systems in the choroid plexus located in the lateral, third, and fourth brain ventricles that controls the entrance of substances into the cerebrospinal fluid from the blood abnormal blood-CSF barrier MPheno.ontology MP:0006088 abnormal blood-cerebrospinal fluid barrier function MP:0006088 anomaly in the function of the group of barriers and transport systems in the choroid plexus located in the lateral, third, and fourth brain ventricles that controls the entrance of substances into the cerebrospinal fluid from the blood PMID:15314169 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the smaller of the two sacs in the vestibule abnormal saccule morphology MPheno.ontology MP:0006089 abnormal vestibular saccule morphology MP:0006089 any structural anomaly of the smaller of the two sacs in the vestibule ISBN:0803606559 PMID:15363417 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the larger of the two sacs in the vestibule abnormal utricular morphology MPheno.ontology MP:0006090 abnormal utricle morphology MP:0006090 any structural anomaly of the larger of the two sacs in the vestibule ISBN:0803606559 PMID:15363417 https://orcid.org/0000-0003-4606-0597 true MP:0006091 any structural anomaly of the neurons in the olfactory epithelium that are activated by specific odorants abnormal olfactory neuron morphology abnormal olfactory receptor neuron morphology MPheno.ontology MP:0006092 abnormal olfactory sensory neuron morphology MP:0006092 any structural anomaly of the neurons in the olfactory epithelium that are activated by specific odorants MESH:A04.531.520.573.580 https://orcid.org/0000-0003-4606-0597 fusion of an artery and vein without an intervening capillary bed AVM MPheno.ontology arteriovenous fistula MP:0006093 arteriovenous malformation MP:0006093 fusion of an artery and vein without an intervening capillary bed https://orcid.org/0000-0003-4606-0597 arteriovenous fistula https://www.compva.com/science/special-types-arteriovenous-malformation increased size of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals adipocyte hypertrophy fat cell hypertrophy MPheno.ontology lipocyte hypertrophy MP:0006094 increased fat cell size MP:0006094 increased size of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals CL:0000449 https://orcid.org/0000-0003-3691-0324 adipocyte hypertrophy MESH:A11.329.114 lipocyte hypertrophy MESH:A11.329.114 absence of the amacrine cells, which constitute one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer absent amacrine neuron MPheno.ontology MP:0006095 absent amacrine cells MP:0006095 absence of the amacrine cells, which constitute one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 absence of the cells that transmit signals from the photoreceptors to retinal amacrine and ganglion cells absent retinal bipolar cells MPheno.ontology MP:0006096 absent retina bipolar cells MP:0006096 absence of the cells that transmit signals from the photoreceptors to retinal amacrine and ganglion cells PMID:11032813 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 anomaly in the formation of the lobes of the cerebellum MPheno.ontology MP:0006097 abnormal cerebellar lobule formation MP:0006097 anomaly in the formation of the lobes of the cerebellum PMID:11032813 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 missing lobes of the cerebellum MPheno.ontology MP:0006098 absent cerebellar lobules MP:0006098 missing lobes of the cerebellum https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 reduced thickness of the innermost cortical layer of the cerebellum that contains granule cells decreased cerebellar granule layer width thin IGL thin internal granule layer MPheno.ontology MP:0006099 thin cerebellar granule layer MP:0006099 reduced thickness of the innermost cortical layer of the cerebellum that contains granule cells PMID:11032813 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the floor of the midbrain which extends from the substantia nigra to the level of the cerebral aqueduct abnormal mesencephalic tegmentum morphology MPheno.ontology MP:0006100 abnormal tegmentum morphology MP:0006100 any structural anomaly of the floor of the midbrain which extends from the substantia nigra to the level of the cerebral aqueduct https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 absence or loss of the floor of the midbrain which extends from the substantia nigra to the level of the cerebral aqueduct MPheno.ontology MP:0006101 absent tegmentum MP:0006101 absence or loss of the floor of the midbrain which extends from the substantia nigra to the level of the cerebral aqueduct https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 reduced size of the floor of the midbrain which extends from the substantia nigra to the level of the cerebral aqueduct reduced tegmentum size thin tegmentum MPheno.ontology MP:0006102 decreased tegmentum size MP:0006102 reduced size of the floor of the midbrain which extends from the substantia nigra to the level of the cerebral aqueduct https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the mesencephalic roof plate, including the caudal and rostral part of the midbrain roof abnormal mesencephalon roof plate morphology MPheno.ontology MP:0006103 abnormal midbrain roof plate morphology MP:0006103 any structural anomaly of the mesencephalic roof plate, including the caudal and rostral part of the midbrain roof https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the rostral part of the midbrain roof MPheno.ontology MP:0006104 abnormal tectum morphology MP:0006104 any structural anomaly of the rostral part of the midbrain roof https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 reduced size of the rostral part of the midbrain roof decreased tectum size reduced tectum size thin tectum MPheno.ontology MP:0006105 small tectum MP:0006105 reduced size of the rostral part of the midbrain roof PMID:11032813 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 absence or loss of the rostral part of the midbrain roof MPheno.ontology MP:0006106 absent tectum MP:0006106 absence or loss of the rostral part of the midbrain roof https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the common canal connecting the primordial atrium and ventricle during fetal development; the dorsal and ventral endocardial cushions develop in the walls of the common atrioventricular canal, grow toward each other and fuse, dividing the common atrioventricular canal into right and left atrioventricular canals and the atrioventricular septum abnormal foetal atrioventricular canal morphology MPheno.ontology MP:0006107 abnormal fetal atrioventricular canal morphology MP:0006107 any structural anomaly of the common canal connecting the primordial atrium and ventricle during fetal development; the dorsal and ventral endocardial cushions develop in the walls of the common atrioventricular canal, grow toward each other and fuse, dividing the common atrioventricular canal into right and left atrioventricular canals and the atrioventricular septum https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 anomaly in the formation or pattering of the caudal region of the brain MPheno.ontology MP:0006108 abnormal hindbrain development MP:0006108 anomaly in the formation or pattering of the caudal region of the brain https://orcid.org/0000-0003-4606-0597 asynchronous contraction or quivering of individual cardiac muscle fibers MPheno.ontology MP:0006109 fibrillation MP:0006109 asynchronous contraction or quivering of individual cardiac muscle fibers NCBI:matt https://orcid.org/0000-0003-4606-0597 asynchronous contraction or quivering of individual cardiac muscle fibers in the ventricles MPheno.ontology MP:0006110 ventricular fibrillation MP:0006110 asynchronous contraction or quivering of individual cardiac muscle fibers in the ventricles NCBI:matt https://orcid.org/0000-0003-4606-0597 any anomaly in the circulation of blood through the vessels that supply the heart MPheno.ontology MP:0006111 abnormal coronary circulation MP:0006111 any anomaly in the circulation of blood through the vessels that supply the heart https://orcid.org/0000-0003-4606-0597 inadequate blood flow to and/or oxygenation of the heart producing chest pain angina pectoris MPheno.ontology MP:0006112 angina MP:0006112 inadequate blood flow to and/or oxygenation of the heart producing chest pain NCBI:matt https://orcid.org/0000-0003-4606-0597 any structural anomaly of the thin membranous structure between the two heart atria, the atria and the ventricles, or the thick muscular structure between the two heart ventricles abnormal heart septa morphology MPheno.ontology MP:0006113 abnormal heart septum morphology MP:0006113 any structural anomaly of the thin membranous structure between the two heart atria, the atria and the ventricles, or the thick muscular structure between the two heart ventricles MESH:A07.541.459 NCBI:matt abnormal turbulent blood flow through the valves or outflow tract results in abnormal heart sounds MPheno.ontology MP:0006114 cardiac murmur MP:0006114 abnormal turbulent blood flow through the valves or outflow tract results in abnormal heart sounds NCBI:matt https://orcid.org/0000-0003-4606-0597 congenital closure of the aortic valve aortic semi-lunar valve atresia aortic semilunar valve atresia aortic valvar atresia left arterial valve atresia left semi-lunar valve atresia left semilunar valve atresia left ventriculoarterial junction atresia MPheno.ontology MP:0006115 aortic valve atresia MP:0006115 congenital closure of the aortic valve https://orcid.org/0000-0003-4606-0597 pathologic deposition of calcium salts in the aortic valve aortic valve calcification calcified aortic semi-lunar valve calcified aortic semilunar valve calcified left semi-lunar valve calcified left semilunar valve calcified left ventriculoarterial junction calicified left arterial valve MPheno.ontology MP:0006116 calcified aortic valve MP:0006116 pathologic deposition of calcium salts in the aortic valve NCBI:matt https://orcid.org/0000-0003-4606-0597 abnormal narrowing or constriction of the aortic valve Fyler:1411 aortic semi-lunar valve stenosis aortic semilunar valve stenosis aortic valvar stenosis left arterial valve stenosis left semi-lunar valve stenosis left semilunar valve stenosis left ventriculoarterial junction stenosis MPheno.ontology aortic stenosis MP:0006117 Do not confuse with aorta stenosis. aortic valve stenosis MP:0006117 abnormal narrowing or constriction of the aortic valve NCBI:matt https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 collapse of one or more of the aortic valve cusps backward allowing blood to leak backwards, usually the result of enlargement of one or more of the valve cusps Fyler:1452 aortic semi-lunar valve prolapse aortic semilunar valve prolapse aortic valvar prolapse left arterial valve prolapse left semi-lunar valve prolapse left semilunar valve prolapse left ventriculoarterial junction prolapse MPheno.ontology MP:0006118 aortic valve prolapse MP:0006118 collapse of one or more of the aortic valve cusps backward allowing blood to leak backwards, usually the result of enlargement of one or more of the valve cusps NCBI:matt https://orcid.org/0000-0003-4606-0597 congenital closure of the mitral valve Fyler:0310 Fyler:310 bicuspid valve atresia left AV valve atresia left atrioventricular valve atresia MPheno.ontology MP:0006119 mitral valve atresia MP:0006119 congenital closure of the mitral valve https://orcid.org/0000-0003-4606-0597 collapse of one or more of the mitral valve cusps backward allowing blood to leak backwards, usually the result of enlargement of one or more of the valve cusps Fyler:1533 bicuspid valve prolapse left AV valve prolapse left atrioventricular valve prolapse mitral valvar prolapse MPheno.ontology MP:0006120 mitral valve prolapse MP:0006120 collapse of one or more of the mitral valve cusps backward allowing blood to leak backwards, usually the result of enlargement of one or more of the valve cusps NCBI:matt https://orcid.org/0000-0003-4606-0597 pathologic deposition of calcium salts in the mitral valve mitral valve calcification bicuspid valve calcification calcified left AV valve calcified left atrioventricular valve left AV valve calcification left atrioventricular valve calcification MPheno.ontology MP:0006121 calcified mitral valve MP:0006121 pathologic deposition of calcium salts in the mitral valve NCBI:matt https://orcid.org/0000-0003-4606-0597 abnormal narrowing or constriction of the mitral valve Fyler:1511 left AV valve stenosis left atrioventricular valve stenosis bicuspid valve stenosis MPheno.ontology MP:0006122 mitral valve stenosis MP:0006122 abnormal narrowing or constriction of the mitral valve NCBI:matt https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 congenital closure of the tricuspid valve Fyler:0400 Fyler:400 right AV valve atresia right atrioventricular valve atresia MPheno.ontology MP:0006123 tricuspid valve atresia MP:0006123 congenital closure of the tricuspid valve NCBI:matt https://orcid.org/0000-0003-4606-0597 abnormal narrowing or constriction of the tricuspid valve right AV valve stenosis right atrioventricular valve stenosis tricuspid stenosis MPheno.ontology MP:0006124 tricuspid valve stenosis MP:0006124 abnormal narrowing or constriction of the tricuspid valve NCBI:matt https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 collapse of one or more of the tricuspid valve cusps backward allowing blood to leak backwards, usually the result of enlargement of one or more of the valve cusps Fyler:1733 right AV valve prolapse right atrioventricular valve prolapse MPheno.ontology MP:0006125 tricuspid valve prolapse MP:0006125 collapse of one or more of the tricuspid valve cusps backward allowing blood to leak backwards, usually the result of enlargement of one or more of the valve cusps NCBI:matt https://orcid.org/0000-0003-4606-0597 anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery and the ventricular outflow regions abnormal fetal outflow tract morphology abnormal foetal outflow tract morphology abnormal outflow tract development MPheno.ontology MP:0006126 abnormal cardiac outflow tract development MP:0006126 anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery and the ventricular outflow regions https://orcid.org/0000-0003-4606-0597 true MP:0006127 abnormal narrowing or constriction of the pulmonary valve Fyler:1611 pulmonary stenosis, valvar pulmonary valvar stenosis pulmonic valve stenosis right arterial valve stenosis right semi-lunar valve stenosis right semilunar valve stenosis MPheno.ontology pulmonary stenosis MP:0006128 Do not confuse with pulmonary artery stenosis, or infundibular pulmonary stenosis. pulmonary valve stenosis MP:0006128 abnormal narrowing or constriction of the pulmonary valve NCBI:matt https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 collapse of one or more of the pulmonary valve cusps backward allowing blood to leak backwards, usually the result of enlargement of one or more of the valve cusps pulmonic valve prolapse right arterial valve prolapse right semi-lunar valve prolapse right semilunar valve prolapse MPheno.ontology MP:0006129 pulmonary valve prolapse MP:0006129 collapse of one or more of the pulmonary valve cusps backward allowing blood to leak backwards, usually the result of enlargement of one or more of the valve cusps https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 congenital closure of the pulmonary valve pulmonary atresia Fyler:1001 pulmonic valve atresia right arterial valve atresia right semi-lunar valve atresia right semilunar valve atresia MPheno.ontology MP:0006130 Do not confuse with pulmonary artery atresia. pulmonary valve atresia MP:0006130 congenital closure of the pulmonary valve https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 pathologic deposition of calcium salts in the pulmonary valve calcified pulmonic valve calcified right arterial valve calcified right semi-lunar valve calcified right semilunar valve pulmonary valve calcification pulmonic valve calcification MPheno.ontology MP:0006131 calcified pulmonary valve MP:0006131 pathologic deposition of calcium salts in the pulmonary valve https://orcid.org/0000-0003-4606-0597 pathologic deposition of calcium salts in the tricuspid valve tricuspid valve calcification calcified right AV valve calcified right atrioventricular valve right atrioventricular valve calcification MPheno.ontology MP:0006132 calcified tricuspid valve MP:0006132 pathologic deposition of calcium salts in the tricuspid valve https://orcid.org/0000-0003-4606-0597 pathologic deposition of calcium salts in the arteries arterial calcification artery calcification MPheno.ontology MP:0006133 calcified artery MP:0006133 pathologic deposition of calcium salts in the arteries NCBI:matt https://orcid.org/0000-0003-4606-0597 blockage of blood flow through one or more arteries arterial occlusion MPheno.ontology MP:0006134 artery occlusion MP:0006134 blockage of blood flow through one or more arteries NCBI:matt https://orcid.org/0000-0003-4606-0597 abnormal constriction or narrowing of one or more arteries MPheno.ontology arterial stenosis MP:0006135 artery stenosis MP:0006135 abnormal constriction or narrowing of one or more arteries NCBI:matt https://orcid.org/0000-0003-4606-0597 enlarged, twisted, painful superficial veins resulting from poorly functioning valves MPheno.ontology MP:0006136 varicose veins MP:0006136 enlarged, twisted, painful superficial veins resulting from poorly functioning valves NCBI:matt https://orcid.org/0000-0003-4606-0597 blockage of blood flow through one or more veins MPheno.ontology MP:0006137 venoocclusion MP:0006137 blockage of blood flow through one or more veins NCBI:matt https://orcid.org/0000-0003-4606-0597 cardiac output is insufficient to supply blood throughout the body, resulting in the accumulation of fluid in the lungs and other body tissues; it is related mainly to salt and water retention in the tissues rather than directly to reduced blood flow; blood pools in the veins (vascular congestion) because the heart does not pump efficiently enough to allow it to return MPheno.ontology MP:0006138 congestive heart failure MP:0006138 cardiac output is insufficient to supply blood throughout the body, resulting in the accumulation of fluid in the lungs and other body tissues; it is related mainly to salt and water retention in the tissues rather than directly to reduced blood flow; blood pools in the veins (vascular congestion) because the heart does not pump efficiently enough to allow it to return NCBI:matt true MP:0006139 greater than the expected number of a benign tumor of the myocardium, occurring in a specific population in a given time period; it is most commonly seen in the young and is often associated with tuberous sclerosis MPheno.ontology MP:0006140 increased cardiac rhabdomyoma incidence MP:0006140 greater than the expected number of a benign tumor of the myocardium, occurring in a specific population in a given time period; it is most commonly seen in the young and is often associated with tuberous sclerosis ISBN:0-683-40008-8 NCBI:matt anomaly in the generation or transfer of cardiac electrical impulses from the atrioventricular node to the atrioventricular bundle atrioventricular node defect MPheno.ontology MP:0006141 abnormal atrioventricular node conduction MP:0006141 anomaly in the generation or transfer of cardiac electrical impulses from the atrioventricular node to the atrioventricular bundle NCBI:matt https://orcid.org/0000-0003-4606-0597 anomaly in the generation or transfer of electrical impulses that trigger contraction of the atria and ventricles sinoatrial node defect sinus node defect Fyler:7010 MPheno.ontology MP:0006142 abnormal sinoatrial node conduction MP:0006142 anomaly in the generation or transfer of electrical impulses that trigger contraction of the atria and ventricles https://orcid.org/0000-0003-4606-0597 abnormal increase in the pressure in the arteries between heart beats when the heart is relaxed MPheno.ontology MP:0006143 increased systemic arterial diastolic blood pressure MP:0006143 abnormal increase in the pressure in the arteries between heart beats when the heart is relaxed NCBI:matt https://orcid.org/0000-0003-4606-0597 abnormal increase in the pressure in the arteries as the heart contracts and pumps blood into the arteries MPheno.ontology MP:0006144 increased systemic arterial systolic blood pressure MP:0006144 abnormal increase in the pressure in the arteries as the heart contracts and pumps blood into the arteries NCBI:matt https://orcid.org/0000-0003-4606-0597 the best corrected visual acuity is 20/200, or the visual field is 20 degrees or less (sensu H. sapiens) MPheno.ontology MP:0006145 legal blindness MP:0006145 the best corrected visual acuity is 20/200, or the visual field is 20 degrees or less (sensu H. sapiens) NCBI:matt https://orcid.org/0000-0003-4606-0597 true MP:0006146 loss of vision in only one eye, may be transient MPheno.ontology MP:0006147 monocular blindness MP:0006147 loss of vision in only one eye, may be transient NCBI:matt https://orcid.org/0000-0003-4606-0597 loss of vision in both eyes, may be transient MPheno.ontology MP:0006148 binocular blindness MP:0006148 loss of vision in both eyes, may be transient NCBI:matt https://orcid.org/0000-0003-4606-0597 loss of visual acuity or ability to distinguish small details MPheno.ontology blurred vision MP:0006149 decreased visual acuity MP:0006149 loss of visual acuity or ability to distinguish small details NCBI:matt https://orcid.org/0000-0003-4606-0597 two images are perceived when only a single object is present diplopia MPheno.ontology MP:0006150 double vision MP:0006150 two images are perceived when only a single object is present NCBI:matt https://orcid.org/0000-0003-4606-0597 the cornea is asymmetrically curved, causing out-of-focus vision astigmatism corneal astigmatism MPheno.ontology MP:0006151 cornea astigmatism MP:0006151 the cornea is asymmetrically curved, causing out-of-focus vision NCBI:matt https://orcid.org/0000-0003-4606-0597 astigmatism https://orcid.org/0000-0002-6490-7723 corneal astigmatism https://orcid.org/0000-0002-6490-7723 loss of peripheral vision MPheno.ontology MP:0006152 tunnel vision MP:0006152 loss of peripheral vision NCBI:matt https://orcid.org/0000-0003-4606-0597 light entering the eye focuses behind the retina, instead of directly on it farsighted hyperopia MPheno.ontology MP:0006153 hypermetropia MP:0006153 light entering the eye focuses behind the retina, instead of directly on it NCBI:matt https://orcid.org/0000-0003-4606-0597 abnormal movement of the eye laterally, or towards the temple MPheno.ontology MP:0006154 eye abduction MP:0006154 abnormal movement of the eye laterally, or towards the temple NCBI:matt https://orcid.org/0000-0003-4606-0597 abnormal movement of the eye medially, or towards the nose MPheno.ontology MP:0006155 eye adduction MP:0006155 abnormal movement of the eye medially, or towards the nose NCBI:matt https://orcid.org/0000-0003-4606-0597 anomaly in the ability to selectively track a moving object MPheno.ontology MP:0006156 abnormal visual pursuit MP:0006156 anomaly in the ability to selectively track a moving object NCBI:matt https://orcid.org/0000-0003-4606-0597 the eye fails to move properly in all directions of gaze MPheno.ontology MP:0006157 palsy of the eye MP:0006157 the eye fails to move properly in all directions of gaze NCBI:matt https://orcid.org/0000-0003-4606-0597 inability to move the eye vertically MPheno.ontology MP:0006158 vertical supranuclear palsy MP:0006158 inability to move the eye vertically NCBI:matt https://orcid.org/0000-0003-4606-0597 absence of melanin (pigment) production in the eye with identifiable melanocytes present absent eye pigment MPheno.ontology MP:0006159 ocular albinism MP:0006159 absence of melanin (pigment) production in the eye with identifiable melanocytes present NCBI:matt https://orcid.org/0000-0003-4606-0597 a difference in color between the irises of the two eyes or between parts of one iris MPheno.ontology MP:0006160 heterochromatic iridis MP:0006160 a difference in color between the irises of the two eyes or between parts of one iris NCBI:matt https://orcid.org/0000-0003-4606-0597 true MP:0006161 increased width of the eyelid thick eye lids MPheno.ontology MP:0006162 thick eyelids MP:0006162 increased width of the eyelid NCBI:matt https://orcid.org/0000-0003-4606-0597 abnormal connection of the upper and lower eyelids formed by fibrous tissue MPheno.ontology MP:0006163 ankyloblepharon filiform MP:0006163 abnormal connection of the upper and lower eyelids formed by fibrous tissue NCBI:matt https://orcid.org/0000-0003-4606-0597 abnormal eversion of the upper or lower eyelid that leaves the eye exposed and dry everted eye lids everted eyelids rolled out eyelids MPheno.ontology MP:0006164 ectropion MP:0006164 abnormal eversion of the upper or lower eyelid that leaves the eye exposed and dry NCBI:matt https://orcid.org/0000-0003-4606-0597 abnormal inward rolling of the eyelid, most commonly the lower lid inverted eye lids inverted eyelid rolled in eyelids MPheno.ontology MP:0006165 entropion MP:0006165 abnormal inward rolling of the eyelid, most commonly the lower lid NCBI:matt https://orcid.org/0000-0003-4606-0597 abnormal superior displacement of resting upper lid margin or abnormal inferior displacement of resting lower lid margin blephara retraction blepharon retraction eye lid retraction palpebra retraction palpebrae retraction MPheno.ontology MP:0006166 eyelid retraction MP:0006166 abnormal superior displacement of resting upper lid margin or abnormal inferior displacement of resting lower lid margin NCIT:C118866 an abnormal accumulation of fluid in the eyelid blepharedema blepharoedema eye lid edema eye lid oedema eyelid oedema palpebral edema palpebral oedema palpebredema palpebroedema puffy eyelids swollen eyelids MPheno.ontology MP:0006167 eyelid edema MP:0006167 an abnormal accumulation of fluid in the eyelid NCBI:matt https://orcid.org/0000-0003-4606-0597 a vertical fold of skin runs from the lower eyelid up either side of the nose MPheno.ontology MP:0006168 epicanthus inversus MP:0006168 a vertical fold of skin runs from the lower eyelid up either side of the nose NCBI:matt https://orcid.org/0000-0003-4606-0597 greater than the expected number of abnormal rapidly proliferating cells in the eyelid, usually in the form of a distinct mass, occurring in a specific population in a given time period increased eyelid tumour incidence MPheno.ontology eyelid tumor eyelid tumour tumor of the eyelid tumour of the eyelid MP:0006169 increased eyelid tumor incidence MP:0006169 greater than the expected number of abnormal rapidly proliferating cells in the eyelid, usually in the form of a distinct mass, occurring in a specific population in a given time period NCBI:matt https://orcid.org/0000-0003-4606-0597 higher than normal incidence of a benign neoplasm derived from pluripotential mesenchymal stem cells of eyelid connective tissue, consisting chiefly of polyhedral and stellate cells that are loosely embedded in a soft mucoid matrix MPheno.ontology eyelid myxoma MP:0006170 increased eyelid myxoma incidence MP:0006170 higher than normal incidence of a benign neoplasm derived from pluripotential mesenchymal stem cells of eyelid connective tissue, consisting chiefly of polyhedral and stellate cells that are loosely embedded in a soft mucoid matrix MPATH:431 greater than the expected number of a tumor composed of nerve tissue found in the eyelid, occurring in a specific population in a given time period MPheno.ontology eyelid neuroma MP:0006171 increased eyelid neuroma incidence MP:0006171 greater than the expected number of a tumor composed of nerve tissue found in the eyelid, occurring in a specific population in a given time period NCBI:matt https://orcid.org/0000-0003-4606-0597 greater than the expected number of a congenital, yellowish-white, fatty, benign tumor located beneath the conjunctiva of the eye, occurring in a specific population in a given time period MPheno.ontology eyelid lipodermoid MP:0006172 increased eyelid lipodermoid incidence MP:0006172 greater than the expected number of a congenital, yellowish-white, fatty, benign tumor located beneath the conjunctiva of the eye, occurring in a specific population in a given time period NCBI:matt https://orcid.org/0000-0003-4606-0597 any structural anomaly of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses abnormal DC1 morphology MPheno.ontology MP:0006173 abnormal myeloid dendritic cell morphology MP:0006173 any structural anomaly of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses PMID:10449155 PMID:9521319 true MP:0006174 acquired diminution of the size of the choroid associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MPheno.ontology MP:0006175 choroid atrophy MP:0006175 acquired diminution of the size of the choroid associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes NCBI:matt https://orcid.org/0000-0003-3691-0324 a retrogressive impairment of function or destruction of the choroid choroid dystrophy MPheno.ontology MP:0006176 choroid degeneration MP:0006176 a retrogressive impairment of function or destruction of the choroid NCBI:matt https://orcid.org/0000-0003-4606-0597 thickening or hardening of the choroid usually secondary to atrophy MPheno.ontology MP:0006177 choroid sclerosis MP:0006177 thickening or hardening of the choroid usually secondary to atrophy NCBI:matt https://orcid.org/0000-0003-4606-0597 true MP:0006178 true MP:0006179 greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells in the choroid, occurring in a specific population in a given time period increased choroid haemangioma incidence MPheno.ontology choroid haemangioma choroid hemangioma MP:0006180 increased choroid hemangioma incidence MP:0006180 greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells in the choroid, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 true MP:0006181 greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells in the retina, occurring in a specific population in a given time period increased retina haemangioma incidence increased retinal haemangioma incidence increased retinal hemangioma incidence MPheno.ontology retinal angioma retinal haemangioma retinal hemangioma MP:0006182 increased retina hemangioma incidence MP:0006182 greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells in the retina, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of a benign formation of a mass of tissue of disproportionate size and distribution in the retina, occurring in a specific population in a given time period; hamartomas are typically composed of an overgrowth of mature cells and tissues that normally occur in this tissue increased retinal hamartoma incidence MPheno.ontology retina hamartoma retinal hamartoma MP:0006183 increased retina hamartoma incidence MP:0006183 greater than the expected number of a benign formation of a mass of tissue of disproportionate size and distribution in the retina, occurring in a specific population in a given time period; hamartomas are typically composed of an overgrowth of mature cells and tissues that normally occur in this tissue https://orcid.org/0000-0003-3691-0324 greater than the expected number of a malignant tumor of nervous tissue composed of well-differentiated astrocytes located in the retina, occurring in a specific population in a given time period increased retinal astrocytoma incidence MPheno.ontology retinal astrocytoma MP:0006184 increased retina astrocytoma incidence MP:0006184 greater than the expected number of a malignant tumor of nervous tissue composed of well-differentiated astrocytes located in the retina, occurring in a specific population in a given time period NCBI:matt https://orcid.org/0000-0003-4606-0597 bleeding into the retina retina haemorrhage retinal haemorrhage retinal hemorrhage MPheno.ontology MP:0006185 retina hemorrhage MP:0006185 bleeding into the retina NCBI:matt https://orcid.org/0000-0003-4606-0597 invasion of fibrous connective tissue into the retina, often resulting from inflammation or injury retinal fibrosis MPheno.ontology MP:0006186 retina fibrosis MP:0006186 invasion of fibrous connective tissue into the retina, often resulting from inflammation or injury NCBI:matt https://orcid.org/0000-0003-4606-0597 abnormal accumulation of material on the retina retinal deposits MPheno.ontology MP:0006187 retina deposits MP:0006187 abnormal accumulation of material on the retina NCBI:matt https://orcid.org/0000-0003-4606-0597 pathologic deposition of calcium salts in the retina retina calcification retinal calcification MPheno.ontology MP:0006188 calcified retina MP:0006188 pathologic deposition of calcium salts in the retina NCBI:matt https://orcid.org/0000-0003-4606-0597 true MP:0006189 inadequate blood flow to the retina usually due to functional constriction or obstruction of a blood vessel retina ischaemia retinal ischaemia retinal ischemia MPheno.ontology MP:0006190 retina ischemia MP:0006190 inadequate blood flow to the retina usually due to functional constriction or obstruction of a blood vessel NCBI:matt https://orcid.org/0000-0003-4606-0597 abnormal accumulation of material on the conjunctiva MPheno.ontology MP:0006191 conjunctival deposits MP:0006191 abnormal accumulation of material on the conjunctiva NCBI:matt https://orcid.org/0000-0003-4606-0597 any structural anomaly of the blood vessel network of the conjunctiva MPheno.ontology MP:0006192 abnormal conjunctival vasculature morphology MP:0006192 any structural anomaly of the blood vessel network of the conjunctiva NCBI:matt https://orcid.org/0000-0003-4606-0597 vascular lesion formed by dilation of a group of small blood vessels in the conjunctiva conjunctival telangiectases conjunctival telangiectasias conjunctival telangiectasis MPheno.ontology MP:0006193 conjunctival telangiectasia MP:0006193 vascular lesion formed by dilation of a group of small blood vessels in the conjunctiva NCBI:matt https://orcid.org/0000-0003-4606-0597 inflammation of the conjunctiva and cornea MPheno.ontology MP:0006194 keratoconjunctivitis MP:0006194 inflammation of the conjunctiva and cornea NCBI:matt https://orcid.org/0000-0003-4606-0597 true MP:0006195 true MP:0006196 decreased interpupillary distance, i.e. decreased distance between the center of the pupils of the two eyes abnormally close eyes closely spaced eyes decreased distance between the eye sockets decreased distance between the eyes decreased interorbital distance decreased orbital separation reduced interpupillary distance MPheno.ontology close set eyes close-set eyes MP:0006197 ocular hypotelorism MP:0006197 decreased interpupillary distance, i.e. decreased distance between the center of the pupils of the two eyes HP:0000601 NCBI:matt PMID:19125427 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 recession of the eyeball within the orbit MP:0006195 deep-set eyes enopthalmia sunken eyes MPheno.ontology MP:0006198 enophthalmos MP:0006198 recession of the eyeball within the orbit ISBN:0-683-40008-8 vertical misalignment between the eyes MPheno.ontology MP:0006199 hypertropia MP:0006199 vertical misalignment between the eyes NCBI:matt https://orcid.org/0000-0003-4606-0597 abnormal accumulation of material in the vitreous body corpus vitreum deposition hyaloid body deposition vitreal body deposition vitreum deposition MPheno.ontology MP:0006200 vitreous body deposition MP:0006200 abnormal accumulation of material in the vitreous body NCBI:matt https://orcid.org/0000-0003-4606-0597 local accumulation of fluid, plasma proteins, and leukocytes in the vitreous body corpus vitreum inflammation hyaloid body inflammation vitreal body inflammation vitreum inflammation MPheno.ontology MP:0006201 vitreous body inflammation MP:0006201 local accumulation of fluid, plasma proteins, and leukocytes in the vitreous body NCBI:matt https://orcid.org/0000-0003-4606-0597 bleeding into the vitreous body corpus vitreum haemorrhage corpus vitreum hemorrhage hyaloid body haemorrhage hyaloid body hemorrhage vitreal body haemorrhage vitreal body hemorrhage vitreous body haemorrhage vitreum haemorrhage vitreum hemorrhage MPheno.ontology MP:0006202 vitreous body hemorrhage MP:0006202 bleeding into the vitreous body NCBI:matt https://orcid.org/0000-0003-4606-0597 bleeding into the eye eye haemorrhage MPheno.ontology MP:0006203 eye hemorrhage MP:0006203 bleeding into the eye https://orcid.org/0000-0003-4606-0597 death anytime between fertilization and implantation (Mus: E0 to less than E4.5) embryonic death before implantation pre-implantation death pre-implantation lethality preimplantation death preimplantation lethality MPheno.ontology MP:0006204 embryonic lethality before implantation MP:0006204 death anytime between fertilization and implantation (Mus: E0 to less than E4.5) https://orcid.org/0000-0003-4606-0597 death anytime between the point of implantation and somite formation (Mus: E4.5 to less than E8) MPheno.ontology embryonic death before somite formation embryonic lethality before somite formation postimplantation lethality MP:0006205 embryonic lethality between implantation and somite formation MP:0006205 death anytime between the point of implantation and somite formation (Mus: E4.5 to less than E8) https://orcid.org/0000-0003-4606-0597 death anytime between somite formation and the initiation of embryo turning (Mus: E8 to less than E9) MPheno.ontology embryonic death before turning of embryo embryonic lethality before embryo turning embryonic lethality before turning of embryo MP:0006206 embryonic lethality between somite formation and embryo turning MP:0006206 death anytime between somite formation and the initiation of embryo turning (Mus: E8 to less than E9) https://orcid.org/0000-0003-4606-0597 death anytime between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) embryonic death during organogenesis MPheno.ontology MP:0006207 embryonic lethality during organogenesis MP:0006207 death anytime between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) https://orcid.org/0000-0003-4606-0597 death anytime between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) lethality throughout foetal growth and development MPheno.ontology embryonic death during fetal growth and development embryonic death during foetal growth and development embryonic lethality during fetal growth and development embryonic lethality during foetal growth and development embryonic lethality throughout fetal growth and development embryonic lethality throughout foetal growth and development MP:0006208 lethality throughout fetal growth and development MP:0006208 death anytime between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) https://orcid.org/0000-0003-4606-0597 pathologic deposition of calcium salts in the eye intraocular calcification MPheno.ontology MP:0006209 calcified intraocular region MP:0006209 pathologic deposition of calcium salts in the eye NCBI:matt https://orcid.org/0000-0003-4606-0597 deviation from the normal size of the orbit MPheno.ontology MP:0006210 abnormal orbit size MP:0006210 deviation from the normal size of the orbit NCBI:matt https://orcid.org/0000-0003-4606-0597 reduced size of the orbits decreased orbit size reduced orbit size MPheno.ontology MP:0006211 small orbits MP:0006211 reduced size of the orbits NCBI:matt https://orcid.org/0000-0003-4606-0597 increased size of the orbits increased orbit size MPheno.ontology MP:0006212 large orbits MP:0006212 increased size of the orbits NCBI:matt https://orcid.org/0000-0003-4606-0597 decrease in the depth of the orbit MPheno.ontology MP:0006213 shallow orbits MP:0006213 decrease in the depth of the orbit NCBI:matt https://orcid.org/0000-0003-4606-0597 loss of bilateral symmetry in the orbits MPheno.ontology MP:0006214 asymmetrical orbits MP:0006214 loss of bilateral symmetry in the orbits NCBI:matt https://orcid.org/0000-0003-4606-0597 true MP:0006215 deviation from the normal size of the optic disk abnormal optic disc size MPheno.ontology abnormal optic nerve head size MP:0006216 abnormal optic disk size MP:0006216 deviation from the normal size of the optic disk NCBI:matt https://orcid.org/0000-0003-4606-0597 reduced size of the optic disk small optic disc MPheno.ontology small optic nerve head MP:0006217 small optic disk MP:0006217 reduced size of the optic disk NCBI:matt https://orcid.org/0000-0003-4606-0597 increased size of the optic disk large optic disc MPheno.ontology large optic nerve head MP:0006218 large optic disk MP:0006218 increased size of the optic disk NCBI:matt https://orcid.org/0000-0003-4606-0597 an active retrogressive pathologic deterioration of the optic nerve due to processes such as aberrant damage repair from injury, impaired blood flow or aging MPheno.ontology MP:0006219 optic nerve degeneration MP:0006219 an active retrogressive pathologic deterioration of the optic nerve due to processes such as aberrant damage repair from injury, impaired blood flow or aging NCBI:matt https://orcid.org/0000-0003-4606-0597 a flattened or pressed appearance of the optic nerve as if by applied pressure MPheno.ontology MP:0006220 optic nerve compression MP:0006220 a flattened or pressed appearance of the optic nerve as if by applied pressure NCBI:matt https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the optic nerve, typically resulting in decreased size hypoplastic optic nerve MPheno.ontology MP:0006221 optic nerve hypoplasia MP:0006221 decrease in the number of normal cells in normal arrangement in the optic nerve, typically resulting in decreased size NCBI:matt https://orcid.org/0000-0003-4606-0597 damage of the optic nerve due to a blockage of its blood supply, to nutritional deficiencies, or to toxins MPheno.ontology MP:0006222 optic neuropathy MP:0006222 damage of the optic nerve due to a blockage of its blood supply, to nutritional deficiencies, or to toxins NCBI:matt https://orcid.org/0000-0003-4606-0597 accumulation of an excessive amount of fluid in the optic nerve; usually associated with an increase in intraocular pressure papilledema pseudopapilledema MPheno.ontology MP:0006223 optic nerve swelling MP:0006223 accumulation of an excessive amount of fluid in the optic nerve; usually associated with an increase in intraocular pressure NCBI:matt https://orcid.org/0000-0003-4606-0597 impaired control of horizontal eye movements MPheno.ontology MP:0006224 oculomotor apraxia MP:0006224 impaired control of horizontal eye movements NCBI:matt https://orcid.org/0000-0003-4606-0597 tearing of the tissues of the eye MPheno.ontology MP:0006225 ocular rupture MP:0006225 tearing of the tissues of the eye NCBI:matt https://orcid.org/0000-0003-4606-0597 decrease in the number of normal cells in normal arrangement in the iris, typically resulting in decreased size hypoplastic iris MPheno.ontology MP:0006226 iris hypoplasia MP:0006226 decrease in the number of normal cells in normal arrangement in the iris, typically resulting in decreased size NCBI:matt https://orcid.org/0000-0003-4606-0597 true MP:0006227 acquired diminution of the size of the iris associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes MPheno.ontology MP:0006228 iris atrophy MP:0006228 acquired diminution of the size of the iris associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes NCBI:matt https://orcid.org/0000-0003-3691-0324 local accumulation of fluid, plasma proteins and leukocytes in the iris MPheno.ontology MP:0006229 iris inflammation MP:0006229 local accumulation of fluid, plasma proteins and leukocytes in the iris NCBI:matt https://orcid.org/0000-0003-4606-0597 decrease in the number of normal cells in normal arrangement in the iris stroma, typically resulting in decreased size hypoplastic iris stroma MPheno.ontology MP:0006230 iris stroma hypoplasia MP:0006230 decrease in the number of normal cells in normal arrangement in the iris stroma, typically resulting in decreased size NCBI:matt https://orcid.org/0000-0003-4606-0597 true MP:0006231 greater than the expected number of benign focal malformations in the iris in a specific population in a given time period; results from faulty iris development, and is composed of an abnormal mixture of tissue elements including melanocytes, or an abnormal proportion of a single element normally present at that site increased iris hamartoma incidence MPheno.ontology Lisch nodule iris hamartoma MP:0006232 increased Lisch nodule incidence MP:0006232 greater than the expected number of benign focal malformations in the iris in a specific population in a given time period; results from faulty iris development, and is composed of an abnormal mixture of tissue elements including melanocytes, or an abnormal proportion of a single element normally present at that site https://orcid.org/0000-0003-3691-0324 true MP:0006233 separation of the anterior iris stroma from the posterior stroma and muscle layers MPheno.ontology MP:0006234 iridoschisis MP:0006234 separation of the anterior iris stroma from the posterior stroma and muscle layers NCBI:matt https://orcid.org/0000-0003-4606-0597 two or more pupils in one iris each with sphincter muscle MPheno.ontology MP:0006235 polycoria MP:0006235 two or more pupils in one iris each with sphincter muscle NCBI:matt https://orcid.org/0000-0003-4606-0597 missing meibomian glands MPheno.ontology MP:0006236 absent Meibomian glands MP:0006236 missing meibomian glands NCBI:matt https://orcid.org/0000-0003-4606-0597 any structural anomaly of the blood vessels of the choroid MPheno.ontology MP:0006237 abnormal choroid vasculature morphology MP:0006237 any structural anomaly of the blood vessels of the choroid https://orcid.org/0000-0003-4606-0597 any structural anomaly of the capillaries forming the inner vascular layer of the choroid of the eye MPheno.ontology MP:0006238 abnormal choriocapillaris morphology MP:0006238 any structural anomaly of the capillaries forming the inner vascular layer of the choroid of the eye NCBI:matt https://orcid.org/0000-0003-4606-0597 missing capillaries forming the inner vascular layer of the choroid of the eye MPheno.ontology MP:0006239 absent choriocapillaris MP:0006239 missing capillaries forming the inner vascular layer of the choroid of the eye NCBI:matt https://orcid.org/0000-0003-4606-0597 unequal size of pupils MPheno.ontology MP:0006240 anisocoria MP:0006240 unequal size of pupils NCBI:matt https://orcid.org/0000-0003-4606-0597 abnormal location of the pupil so that it is not in the center of the iris corectopia ectopic pupil MPheno.ontology MP:0006241 abnormal placement of pupils MP:0006241 abnormal location of the pupil so that it is not in the center of the iris NCBI:matt https://orcid.org/0000-0003-4606-0597 reflective white mass within the eye that gives the appearance of white pupil leucokoria leukokoria MPheno.ontology MP:0006242 white pupil MP:0006242 reflective white mass within the eye that gives the appearance of white pupil NCBI:matt https://orcid.org/0000-0003-4606-0597 the pupil fails to constrict fully when exposed to bright light Marcus-Gunn pupil abnormal pupil dilation reaction to light MPheno.ontology MP:0006243 impaired pupillary reflex MP:0006243 the pupil fails to constrict fully when exposed to bright light NCBI:matt https://orcid.org/0000-0003-4606-0597 repetitive, involuntary spasm of the eyelid muscles; a twitch usually occurs in the upper eyelid, but it can occur in both the upper and lower eyelids blepharospasm eyelid spasm eyelid twitch eyelid twitching involuntary closure of eyelid involuntary contraction of eyelids spontaneous closure of eyelid twitching eyelid MPheno.ontology MP:0006244 eyelid muscle spasm MP:0006244 repetitive, involuntary spasm of the eyelid muscles; a twitch usually occurs in the upper eyelid, but it can occur in both the upper and lower eyelids https://orcid.org/0000-0002-6490-7723 OBSOLETE. the lens is moved out of position because some or all of the supporting ligaments have broken MP:0031428 MPheno.ontology MP:0006245 obsolete dislocated lens true MP:0006245 OBSOLETE. the lens is moved out of position because some or all of the supporting ligaments have broken NCBI:matt https://orcid.org/0000-0003-4606-0597 true MP:0006246 true MP:0006247 inability to completely close the eye MPheno.ontology MP:0006248 lagophthalmos MP:0006248 inability to completely close the eye NCBI:matt https://orcid.org/0000-0003-4606-0597 small, shrunken, malformed eye that usually represents an acquired shrinkage of the eye following trauma, infection, or the end result of eye disease rather than a primary developmental defect MPheno.ontology shrunken eye MP:0006249 phthisis bulbi MP:0006249 small, shrunken, malformed eye that usually represents an acquired shrinkage of the eye following trauma, infection, or the end result of eye disease rather than a primary developmental defect NCBI:matt https://orcid.org/0000-0003-4606-0597 any structural anomaly of the thickened peripheral margin of the vitreous membrane of the cornea abnormal Schwalbe's ring morphology MPheno.ontology MP:0006250 abnormal line of Schwalbe morphology MP:0006250 any structural anomaly of the thickened peripheral margin of the vitreous membrane of the cornea NCBI:matt https://orcid.org/0000-0003-4606-0597 impaired ability to open the eyelids without any gross defect in eyelid morphology MPheno.ontology MP:0006251 eyelid apraxia MP:0006251 impaired ability to open the eyelids without any gross defect in eyelid morphology NCBI:matt https://orcid.org/0000-0003-4606-0597 paralysis of the lateral rectus muscle preventing medially deviated and movement laterally from the midline MPheno.ontology MP:0006252 lateral rectus palsy MP:0006252 paralysis of the lateral rectus muscle preventing medially deviated and movement laterally from the midline NCBI:matt https://orcid.org/0000-0003-4606-0597 abnormal lateral curvature of one or more digits towards or away from each other bent digits MPheno.ontology MP:0006253 clinodactyly MP:0006253 abnormal lateral curvature of one or more digits towards or away from each other https://orcid.org/0000-0003-4606-0597 decreased depth of the mantle covering the surface of the cerebral hemispheres MPheno.ontology MP:0006254 thin cerebral cortex MP:0006254 decreased depth of the mantle covering the surface of the cerebral hemispheres https://orcid.org/0000-0003-4606-0597 true MP:0006255 any structural anomaly of the papillae that contain taste buds, including the fungiform, foliate, and circumvallate papillae abnormal taste papillae morphology MPheno.ontology MP:0006256 abnormal gustatory papillae morphology MP:0006256 any structural anomaly of the papillae that contain taste buds, including the fungiform, foliate, and circumvallate papillae https://orcid.org/0000-0003-4606-0597 any structural anomaly of the mushroom-shaped papillae, which have a single taste bud at the tip, located mostly on the dorsal anterior portion of the tongue MPheno.ontology MP:0006257 abnormal fungiform papillae morphology MP:0006257 any structural anomaly of the mushroom-shaped papillae, which have a single taste bud at the tip, located mostly on the dorsal anterior portion of the tongue https://orcid.org/0000-0003-4606-0597 any structural anomaly of the large papillae, which have multiple taste buds in the trough surrounding the papillae, located near the base and on the dorsal side of the tongue abnormal vallate papillae MPheno.ontology MP:0006258 abnormal circumvallate papillae morphology MP:0006258 any structural anomaly of the large papillae, which have multiple taste buds in the trough surrounding the papillae, located near the base and on the dorsal side of the tongue https://orcid.org/0000-0003-4606-0597 any structural anomaly of the papillae located on the sides of the tongue MPheno.ontology MP:0006259 abnormal foliate papillae morphology MP:0006259 any structural anomaly of the papillae located on the sides of the tongue ISBN:0803606559 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the lingual taste buds found exclusively within gustatory papillae of the tongue, including the circumvallate, foliate, and fungiform papillae abnormal gustatory papillae taste bud morphology abnormal tongue taste bud morphology MPheno.ontology abnormal gustatory papillae taste buds MP:0006260 abnormal gustatory papilla taste bud morphology MP:0006260 any structural anomaly of the lingual taste buds found exclusively within gustatory papillae of the tongue, including the circumvallate, foliate, and fungiform papillae PMID:31604544 UBERON:0014451 an abnormal ring or collar of pancreatic tissue that encircles the duodenum MPheno.ontology MP:0006261 annular pancreas MP:0006261 an abnormal ring or collar of pancreatic tissue that encircles the duodenum https://orcid.org/0000-0003-4606-0597 greater than the expected number of abnormal rapidly proliferating cells in the testis, usually in the form of a distinct mass, occurring in a specific population in a given time period increased testicular tumor incidence increased testicular tumour incidence increased testis tumour incidence MPheno.ontology testis tumor testis tumour MP:0006262 increased testis tumor incidence MP:0006262 greater than the expected number of abnormal rapidly proliferating cells in the testis, usually in the form of a distinct mass, occurring in a specific population in a given time period https://orcid.org/0000-0003-4606-0597 abnormal decrease in the pressure in the arteries between heart beats when the heart is relaxed reduced diastolic blood pressure MPheno.ontology MP:0006263 decreased systemic arterial diastolic blood pressure MP:0006263 abnormal decrease in the pressure in the arteries between heart beats when the heart is relaxed https://orcid.org/0009-0005-7755-8314 abnormal decrease in the pressure in the arteries as the heart contracts and pumps blood into the arteries reduced systolic blood pressure MPheno.ontology MP:0006264 decreased systemic arterial systolic blood pressure MP:0006264 abnormal decrease in the pressure in the arteries as the heart contracts and pumps blood into the arteries https://orcid.org/0009-0005-7755-8314 increase in the difference between systolic and diastolic blood pressure MPheno.ontology MP:0006265 increased pulse pressure MP:0006265 increase in the difference between systolic and diastolic blood pressure RGD:cur decrease in the difference between systolic and diastolic blood pressure reduced pulse pressure MPheno.ontology MP:0006266 decreased pulse pressure MP:0006266 decrease in the difference between systolic and diastolic blood pressure RGD:cur any structural anomaly in the electron dense junctional complex, at the end to end contacts of cardiac muscle cells, that contains two types of membrane junctions i.e. gap junctions and desmosomes; the intercalated discs permit communication between the cells such that there is a sequential contraction of the cells from the bottom of the ventricle to the top, facilitating maximal ejection of blood from the ventricle during contraction abnormal intercalated disc morphology MPheno.ontology MP:0006267 abnormal intercalated disk morphology MP:0006267 any structural anomaly in the electron dense junctional complex, at the end to end contacts of cardiac muscle cells, that contains two types of membrane junctions i.e. gap junctions and desmosomes; the intercalated discs permit communication between the cells such that there is a sequential contraction of the cells from the bottom of the ventricle to the top, facilitating maximal ejection of blood from the ventricle during contraction https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 absence of one type of membrane junctions found within the intercalated discs that provide mechanical integrity and prevent separation of adjacent cells during contraction of cardiac tissue absent cardiac macula adherens MPheno.ontology MP:0006268 absent cardiac desmosomes MP:0006268 absence of one type of membrane junctions found within the intercalated discs that provide mechanical integrity and prevent separation of adjacent cells during contraction of cardiac tissue https://orcid.org/0000-0002-6490-7723 anomaly in the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation in preparation for lactation MPheno.ontology MP:0006269 abnormal mammary gland growth during pregnancy MP:0006269 anomaly in the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation in preparation for lactation MGI:llw2 anomaly in the final stage of mammary growth that occurs during the start of lactation MPheno.ontology MP:0006270 abnormal mammary gland growth during lactation MP:0006270 anomaly in the final stage of mammary growth that occurs during the start of lactation MGI:llw2 anomaly in the process during which mammary glands suspend milk protein production, the mammary alveolar structures collapse and secretory epithelial cells are lost MPheno.ontology MP:0006271 abnormal involution of the mammary gland MP:0006271 anomaly in the process during which mammary glands suspend milk protein production, the mammary alveolar structures collapse and secretory epithelial cells are lost MGI:llw2 any change in the amount of organic anions in the urine abnormal kidney organic anion excretion abnormal renal organic anion excretion abnormal renal organic anion secretion MPheno.ontology MP:0006272 abnormal urine organic anion level MP:0006272 any change in the amount of organic anions in the urine https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 any change in the amount of organic cations in the urine abnormal kidney organic cation excretion abnormal renal organic cation secretion MPheno.ontology abnormal renal organic cation excretion MP:0006273 abnormal urine organic cation level MP:0006273 any change in the amount of organic cations in the urine https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 any change in the amount of sodium in the urine MP:0006312 abnormal kidney sodium excretion abnormal renal sodium excretion MPheno.ontology MP:0006274 abnormal urine sodium level MP:0006274 any change in the amount of sodium in the urine https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 true MP:0006275 any functional anomaly of the function of the sensory and motor neurons that run between the central nervous system (especially the hypothalamus and medulla oblongata) and various internal organs (heart, lungs, endocrine and exocrine glands), responsible for controlling involuntary bodily functions MPheno.ontology MP:0006276 abnormal autonomic nervous system physiology MP:0006276 any functional anomaly of the function of the sensory and motor neurons that run between the central nervous system (especially the hypothalamus and medulla oblongata) and various internal organs (heart, lungs, endocrine and exocrine glands), responsible for controlling involuntary bodily functions ISBN:0803606559 https://orcid.org/0000-0002-6490-7723 any functional anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and generally acts to conserve resources and restore homeostasis, often with effects reciprocal to the sympathetic nervous system MPheno.ontology MP:0006277 abnormal parasympathetic nervous system physiology MP:0006277 any functional anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and generally acts to conserve resources and restore homeostasis, often with effects reciprocal to the sympathetic nervous system ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 a protruding sac formed by the dilation of the wall of the aorta resulting from a weakening of the vessel wall Fyler:2301 MPheno.ontology MP:0006278 aortic aneurysm MP:0006278 a protruding sac formed by the dilation of the wall of the aorta resulting from a weakening of the vessel wall ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 anomaly in the formation of the limbs MPheno.ontology MP:0006279 abnormal limb development MP:0006279 anomaly in the formation of the limbs https://orcid.org/0000-0003-4606-0597 anomaly in the formation of the digits MPheno.ontology MP:0006280 abnormal digit development MP:0006280 anomaly in the formation of the digits https://orcid.org/0000-0003-4606-0597 anomaly in the formation of the tail MPheno.ontology MP:0006281 abnormal tail development MP:0006281 anomaly in the formation of the tail https://orcid.org/0000-0003-4606-0597 any structural anomaly of the pronounced, dorsolaterally oriented ridge of grey matter in each lateral half of the spinal cord MA:0001119 abnormal dorsal horn morphology abnormal posterior column morphology abnormal posterior cornu morphology abnormal posterior gray horn morphology abnormal posterior horn morphology MPheno.ontology MP:0006282 Note that the synonym posterior column may refer to either the grey matter dorsal horn or the white matter dorsal column in the spinal cord. Posterior horn may also refer to a region of the brain lateral ventricles. abnormal spinal cord dorsal horn morphology MP:0006282 any structural anomaly of the pronounced, dorsolaterally oriented ridge of grey matter in each lateral half of the spinal cord ISBN:0-683-40008-8 greater than the expected number of a solid, cancerous tumor originating in the cerebellum of the brain and of primitive neuroectodermal origin, occurring in a specific population in a given time period MPheno.ontology medulloblastoma primitive neuroendocrine tumor primitive neuroendocrine tumour MP:0006283 increased medulloblastoma incidence MP:0006283 greater than the expected number of a solid, cancerous tumor originating in the cerebellum of the brain and of primitive neuroectodermal origin, occurring in a specific population in a given time period MGI:rbabiuk https://orcid.org/0000-0003-4606-0597 absence of the muscles derived from the lateral myotome and lateral portion of the dermomyotome; these include the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue MPheno.ontology MP:0006284 absent hypaxial muscle MP:0006284 absence of the muscles derived from the lateral myotome and lateral portion of the dermomyotome; these include the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue PMID:1591996 https://orcid.org/0000-0002-6490-7723 absence of all components of the labyrinth, including the semicircular canals, vestibule and cochlea MPheno.ontology MP:0006285 absent inner ear MP:0006285 absence of all components of the labyrinth, including the semicircular canals, vestibule and cochlea https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the inner ear, typically resulting in decreased size hypoplastic inner ear MPheno.ontology MP:0006286 inner ear hypoplasia MP:0006286 decrease in the number of normal cells in normal arrangement in the inner ear, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 presence of one or more abnormal membranous sacs in any component of the labyrinth, including the semicircular canals, vestibule and cochlea cystic inner ear inner ear cysts MPheno.ontology MP:0006287 inner ear cyst MP:0006287 presence of one or more abnormal membranous sacs in any component of the labyrinth, including the semicircular canals, vestibule and cochlea https://orcid.org/0000-0002-6490-7723 reduced size of the cartilage or bony capsule surrounding the inner ear mechanism small auditory capsule MPheno.ontology MP:0006288 small otic capsule MP:0006288 reduced size of the cartilage or bony capsule surrounding the inner ear mechanism https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the otic capsule, typically resulting in decreased size hypoplastic auditory capsule hypoplastic otic capsule MPheno.ontology MP:0006289 otic capsule hypoplasia MP:0006289 decrease in the number of normal cells in normal arrangement in the otic capsule, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 a long, cylindrical protuberance of the face that, in cyclopia or ethmocephaly, represents the nose MPheno.ontology MP:0006290 proboscis MP:0006290 a long, cylindrical protuberance of the face that, in cyclopia or ethmocephaly, represents the nose https://orcid.org/0000-0002-6490-7723 derivatives of the telencephalon and diencephalon are absent or dysplastic but more caudal brain structures are largely normal or only mildly deformed MPheno.ontology MP:0006291 aprosencephaly MP:0006291 derivatives of the telencephalon and diencephalon are absent or dysplastic but more caudal brain structures are largely normal or only mildly deformed https://radiopaedia.org/articles/aprosencephaly?lang=us any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epithelium of the nose abnormal olfactory placodes olfactory placode dysplasia MPheno.ontology MP:0006292 abnormal nasal placode morphology MP:0006292 any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epithelium of the nose https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 absence of the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epithelium of the nose absent olfactory placodes MPheno.ontology MP:0006293 absent nasal placodes MP:0006293 absence of the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epithelium of the nose https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 absence of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop absent ocular vesicle absent ophthalmic vesicle absent vesicula ophthalmica MPheno.ontology MP:0006294 absent optic vesicle MP:0006294 absence of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop https://orcid.org/0000-0002-6490-7723 absence of the group of mesenchymal cells that emerge from the ventromedial part of a somite and migrate toward the notochord to give rise to the ribs and vertebrae MPheno.ontology MP:0006295 absent sclerotome MP:0006295 absence of the group of mesenchymal cells that emerge from the ventromedial part of a somite and migrate toward the notochord to give rise to the ribs and vertebrae https://orcid.org/0000-0002-6490-7723 the digits are abnormally long and slender achromachia spider fingers MPheno.ontology MP:0006296 arachnodactyly MP:0006296 the digits are abnormally long and slender ISBN:0803606559 MGI:llw2 OBSOLETE. reduction in amount or absence of adipose tissue associated with internal organs MP:0008844 MPheno.ontology MP:0006297 This term has been rendered obsolete. Use decreased abdominal adipose tissue amount MP:0008853 instead. obsolete loss of abdominal adipose tissue true MP:0006297 OBSOLETE. reduction in amount or absence of adipose tissue associated with internal organs MGI:llw2 anomaly in the series of progressive, overlapping events triggered by exposure of platelets to signals from subendothelial tissue, including shape change, adhesiveness, aggregation, and release reactions; when carried through to completion, these events lead to the formation of a stable hemostatic plug MPheno.ontology abnormal thrombocyte activation MP:0006298 abnormal platelet activation MP:0006298 anomaly in the series of progressive, overlapping events triggered by exposure of platelets to signals from subendothelial tissue, including shape change, adhesiveness, aggregation, and release reactions; when carried through to completion, these events lead to the formation of a stable hemostatic plug GO:0030168 https://orcid.org/0000-0003-4606-0597 anomaly in the impairment in a conditioned response seen after repeated unpaired presentations of the conditioned stimulus prior to pairing it with the unconditioned stimulus abnormal latent inhibition of conditioning behaviour MPheno.ontology MP:0006299 abnormal latent inhibition of conditioning behavior MP:0006299 anomaly in the impairment in a conditioned response seen after repeated unpaired presentations of the conditioned stimulus prior to pairing it with the unconditioned stimulus MGI:brs http://dionysus.psych.wisc.edu/ARL/research-current.html https://orcid.org/0000-0003-4606-0597 any structural anomaly of the structure in the anterior parahippocampus that lies forward of the parahippocampal cortex and immediately medial to the perirhinal cortex, bounded superiorly by the hippocampus and inferiorly by the collateral sulcus abnormal Brodmann's area 28 morphology abnormal entorhinal area morphology MPheno.ontology MP:0006300 abnormal entorhinal cortex morphology MP:0006300 any structural anomaly of the structure in the anterior parahippocampus that lies forward of the parahippocampal cortex and immediately medial to the perirhinal cortex, bounded superiorly by the hippocampus and inferiorly by the collateral sulcus MGI:brs any structural anomaly of the loosely packed, unspecialized cells that derive mostly from the mesoderm and contribute to connective tissue, bone, cartilage and circulatory and lymphatic systems MPheno.ontology MP:0006301 abnormal mesenchyme morphology MP:0006301 any structural anomaly of the loosely packed, unspecialized cells that derive mostly from the mesoderm and contribute to connective tissue, bone, cartilage and circulatory and lymphatic systems https://orcid.org/0000-0003-0431-8641 any structural anomaly in the mesenchymal cells derived from neural crest cells that contribute to development of the hard and soft tissue in the head and neck, including the branchial arches MPheno.ontology MP:0006302 abnormal ectomesenchyme morphology MP:0006302 any structural anomaly in the mesenchymal cells derived from neural crest cells that contribute to development of the hard and soft tissue in the head and neck, including the branchial arches PMID:17067568 https://orcid.org/0000-0003-0431-8641 any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve abnormal retina nerve fibre layer morphology abnormal retinal nerve fiber layer morphology abnormal retinal nerve fibre layer morphology abnormal stratum opticum morphology MPheno.ontology MP:0006303 abnormal retina nerve fiber layer morphology MP:0006303 any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve ISBN:0-914294-08-3 https://orcid.org/0000-0003-4606-0597 true MP:0006304 any structural anomaly of the embryonic structure that gives rise to the corneal ectoderm MPheno.ontology MP:0006305 abnormal optic eminence morphology MP:0006305 any structural anomaly of the embryonic structure that gives rise to the corneal ectoderm PMID:17334657 http://embryology.med.unsw.edu.au/Notes/eye.htm#stage13 https://orcid.org/0000-0003-4606-0597 any structural anomaly of one or both of a pair of depressions formed in the developing face that give rise to the rostral portion of the nasal meatus; the nasal pits indent the fronto-nasal process and divide it into a medial and two lateral nasal processes abnormal olfactory pit morphology MPheno.ontology MP:0006306 abnormal nasal pit morphology MP:0006306 any structural anomaly of one or both of a pair of depressions formed in the developing face that give rise to the rostral portion of the nasal meatus; the nasal pits indent the fronto-nasal process and divide it into a medial and two lateral nasal processes ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 alteration in the diameter of the tubules in the testes where spermatogenesis occurs MPheno.ontology MP:0006307 abnormal seminiferous tubule size MP:0006307 alteration in the diameter of the tubules in the testes where spermatogenesis occurs https://orcid.org/0000-0003-4606-0597 increased diameter of the tubules in the testes where spermatogenesis occurs increased seminiferous tubule size MPheno.ontology MP:0006308 enlarged seminiferous tubules MP:0006308 increased diameter of the tubules in the testes where spermatogenesis occurs https://orcid.org/0000-0003-4606-0597 reduced number of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain decreased retinal ganglion cell number reduced retina ganglion cell number reduced retinal ganglion cell number MPheno.ontology MP:0006309 decreased retina ganglion cell number MP:0006309 reduced number of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 higher than normal incidence of a malignant tumor of the retina composed of cells arising from the retinoblasts MPheno.ontology retinoblastoma MP:0006310 increased retinoblastoma incidence MP:0006310 higher than normal incidence of a malignant tumor of the retina composed of cells arising from the retinoblasts ISBN:0803606559 MGI:rbabiuk true MP:0006311 true MP:0006312 true MP:0006313 true MP:0006314 anomaly in the amount of protein in the urine abnormal kidney protein excretion abnormal renal protein excretion MPheno.ontology MP:0006315 abnormal urine protein level MP:0006315 anomaly in the amount of protein in the urine https://orcid.org/0000-0003-4606-0597 higher than normal amount of sodium in the urine MP:0005569 MP:0006275 increased sodium excretion natriuresis MPheno.ontology MP:0006316 increased urine sodium level MP:0006316 higher than normal amount of sodium in the urine https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 lower than normal amount of sodium in the urine MP:0005570 decreased sodium excretion reduced sodium excretion reduced urine sodium level MPheno.ontology MP:0006317 decreased urine sodium level MP:0006317 lower than normal amount of sodium in the urine https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 true MP:0006318 any structural anomaly of the encapsulated adipose tissue associated with the epididymis abnormal epididymal fat depot morphology abnormal periepididymal fat pad morphology MPheno.ontology MP:0006319 abnormal epididymal fat pad morphology MP:0006319 any structural anomaly of the encapsulated adipose tissue associated with the epididymis MGI:rbabiuk https://orcid.org/0000-0003-4606-0597 any structural anomaly of the encapsulated adipose tissue located between the scapulae abnormal interscapular fat depot morphology MPheno.ontology MP:0006320 abnormal interscapular fat pad morphology MP:0006320 any structural anomaly of the encapsulated adipose tissue located between the scapulae MGI:rbabiuk https://orcid.org/0000-0003-4606-0597 increased number of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart increased adult cardiomyocyte number increased myocardial fibre number MPheno.ontology MP:0006321 increased myocardial fiber number MP:0006321 increased number of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart https://orcid.org/0000-0003-4606-0597 https://orcid.org/0009-0005-7755-8314 any structural anomaly of the fibrous connective tissue that surrounds all non-joint end cartilage perichondrium dysplasia MPheno.ontology MP:0006322 abnormal perichondrium morphology MP:0006322 any structural anomaly of the fibrous connective tissue that surrounds all non-joint end cartilage ISBN:0803606559 https://orcid.org/0000-0003-4606-0597 malformation of the mesoderm of the extraembryonic tissue that is involved in forming the amnion, chorion, yolk sac, and body stalk abnormal primary mesoderm formation MPheno.ontology MP:0006323 abnormal extraembryonic mesoderm development MP:0006323 malformation of the mesoderm of the extraembryonic tissue that is involved in forming the amnion, chorion, yolk sac, and body stalk ISBN:0803606559 https://orcid.org/0000-0003-4606-0597 anomaly in the electrophysiological recordings from a single or several auditory nerve fiber(s) abnormal auditory nerve fiber response abnormal auditory nerve fibre response abnormal cochlear nerve fibre response MPheno.ontology MP:0006324 abnormal cochlear nerve fiber response MP:0006324 anomaly in the electrophysiological recordings from a single or several auditory nerve fiber(s) https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 reduced ability to perceive auditory stimuli MPheno.ontology hearing loss MP:0006325 impaired hearing MP:0006325 reduced ability to perceive auditory stimuli https://orcid.org/0000-0003-4606-0597 reduction in the ability to hear due to lesions in the external auditory canal or middle ear MPheno.ontology MP:0006326 conductive hearing impairment MP:0006326 reduction in the ability to hear due to lesions in the external auditory canal or middle ear https://orcid.org/0000-0003-4606-0597 reduced ability to hear resulting from a combination of conductive and sensorineural hearing impairment MPheno.ontology MP:0006327 mixed hearing impairment MP:0006327 reduced ability to hear resulting from a combination of conductive and sensorineural hearing impairment https://orcid.org/0000-0003-4606-0597 a form of hearing impairment that is not associated with visible abnormalities of the external ear or other signs and symptoms; the vast majority of hereditary hearing loss is nonsyndromic and can be associated with abnormalities of the middle ear and/or inner ear MPheno.ontology MP:0006328 nonsyndromic hearing impairment MP:0006328 a form of hearing impairment that is not associated with visible abnormalities of the external ear or other signs and symptoms; the vast majority of hereditary hearing loss is nonsyndromic and can be associated with abnormalities of the middle ear and/or inner ear https://orcid.org/0000-0003-4606-0597 a form of hearing impairment due to a lesion of the auditory division of cranial nerve VIII or the inner ear MPheno.ontology perceptive hearing impairment MP:0006329 sensorineural hearing impairment MP:0006329 a form of hearing impairment due to a lesion of the auditory division of cranial nerve VIII or the inner ear https://orcid.org/0000-0003-4606-0597 hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms MPheno.ontology MP:0006330 syndromic hearing impairment MP:0006330 hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms https://orcid.org/0000-0003-4606-0597 anomaly in the organization of the various cell types within the organ of Corti into a set number of distinct rows MPheno.ontology MP:0006331 abnormal patterning of the organ of Corti MP:0006331 anomaly in the organization of the various cell types within the organ of Corti into a set number of distinct rows https://orcid.org/0000-0003-4606-0597 anomaly in the evoked response of the cochlea MPheno.ontology MP:0006332 abnormal cochlear potential MP:0006332 anomaly in the evoked response of the cochlea https://orcid.org/0000-0003-4606-0597 true MP:0006333 anomaly in the sensitivity to loss of hearing related to age or environmental factors abnormal resistance to hearing loss MPheno.ontology MP:0006334 abnormal susceptibility to hearing loss MP:0006334 anomaly in the sensitivity to loss of hearing related to age or environmental factors https://orcid.org/0000-0003-4606-0597 anomaly in auditory function as it relates to electrical phenomena MPheno.ontology MP:0006335 abnormal hearing electrophysiology MP:0006335 anomaly in auditory function as it relates to electrical phenomena https://orcid.org/0000-0003-4606-0597 anomaly in the acoustic energy produced by the cochlea in the presence or absence of sound stimulation abnormal otoacoustic emissions MPheno.ontology MP:0006336 abnormal otoacoustic response MP:0006336 anomaly in the acoustic energy produced by the cochlea in the presence or absence of sound stimulation https://orcid.org/0000-0003-4606-0597 any structural anomaly of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel's cartilage, trigeminal nerve, and maxillary artery abnormal first branchial arch morphology abnormal mandibular arch morphology MPheno.ontology MP:0006337 abnormal first pharyngeal arch morphology MP:0006337 any structural anomaly of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel's cartilage, trigeminal nerve, and maxillary artery https://orcid.org/0000-0003-4606-0597 any structural anomaly of the second arch which contributes to the development of the stapes, styloid process, hyoid bone, stylohyoid ligament, muscles of facial expression, stapedius muscle, stylohyoid muscle, and lining of the palatine tonsils abnormal hyoid arch morphology abnormal second branchial arch morphology MPheno.ontology MP:0006338 abnormal second pharyngeal arch morphology MP:0006338 any structural anomaly of the second arch which contributes to the development of the stapes, styloid process, hyoid bone, stylohyoid ligament, muscles of facial expression, stapedius muscle, stylohyoid muscle, and lining of the palatine tonsils https://orcid.org/0000-0003-4606-0597 any structural anomaly of the third arch which contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus abnormal third branchial arch morphology MPheno.ontology MP:0006339 abnormal third pharyngeal arch morphology MP:0006339 any structural anomaly of the third arch which contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus https://orcid.org/0000-0003-4606-0597 any structural anomaly of the fourth arch which contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus abnormal fourth branchial arch morphology MPheno.ontology MP:0006340 abnormal fourth pharyngeal arch morphology MP:0006340 any structural anomaly of the fourth arch which contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus https://orcid.org/0000-0003-4606-0597 zillmusom:http://musom.marshall.edu/anatomy/grosshom/z_devbranc.html reduced size of the first branchial arch decreased first pharyngeal arch size small first branchial arch MPheno.ontology MP:0006341 small first pharyngeal arch MP:0006341 reduced size of the first branchial arch https://orcid.org/0000-0003-4606-0597 absence of the structure of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel's cartilage, trigeminal nerve, and maxillary artery absent first branchial arch MPheno.ontology MP:0006342 absent first pharyngeal arch MP:0006342 absence of the structure of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel's cartilage, trigeminal nerve, and maxillary artery https://orcid.org/0000-0003-4606-0597 increased size of the first branchial arch enlarged first branchial arch increased first pharyngeal arch size MPheno.ontology MP:0006343 enlarged first pharyngeal arch MP:0006343 increased size of the first branchial arch https://orcid.org/0000-0003-4606-0597 reduced size of the second branchial arch decreased second pharyngeal arch size small second branchial arch MPheno.ontology MP:0006344 small second pharyngeal arch MP:0006344 reduced size of the second branchial arch https://orcid.org/0000-0003-4606-0597 absence of the structure of the second arch which contributes to the development of the stapes, styloid process, hyoid bone, stylohyoid ligament, muscles of facial expression, stapedius muscle, stylohyoid muscle, and lining of the palatine tonsils absent second branchial arch MPheno.ontology MP:0006345 absent second pharyngeal arch MP:0006345 absence of the structure of the second arch which contributes to the development of the stapes, styloid process, hyoid bone, stylohyoid ligament, muscles of facial expression, stapedius muscle, stylohyoid muscle, and lining of the palatine tonsils https://orcid.org/0000-0003-4606-0597 reduced size of one or more of the branchial arches decreased pharyngeal arch size reduced pharyngeal arch size small branchial arch MPheno.ontology MP:0006346 small pharyngeal arch MP:0006346 reduced size of one or more of the branchial arches https://orcid.org/0000-0003-4606-0597 any structural anomaly of the sixth arch which contributes to the development of the sternocleidomastoid and trapezius muscles abnormal sixth branchial arch morphology MPheno.ontology MP:0006347 abnormal sixth pharyngeal arch morphology MP:0006347 any structural anomaly of the sixth arch which contributes to the development of the sternocleidomastoid and trapezius muscles https://orcid.org/0000-0003-4606-0597 zillmusom:http://musom.marshall.edu/anatomy/grosshom/z_devbranc.html any anomaly in the blood concentration of copper MPheno.ontology MP:0006348 abnormal circulating copper level MP:0006348 any anomaly in the blood concentration of copper MGI:Riken https://orcid.org/0000-0003-4606-0597 less than the normal concentration of copper in the blood hypocupraemia hypocupremia reduced circulating copper level MPheno.ontology MP:0006349 decreased circulating copper level MP:0006349 less than the normal concentration of copper in the blood MGI:Riken https://orcid.org/0000-0003-4606-0597 greater than normal concentration of copper in the blood hypercupraemia hypercupremia MPheno.ontology MP:0006350 increased circulating copper level MP:0006350 greater than normal concentration of copper in the blood MGI:Riken https://orcid.org/0000-0003-4606-0597 aberrant concentration in the blood of modified form of hemoglobin with an attached saccharide molecule; this is commonly used to estimate blood glucose levels over the lifespan of the red blood cell abnormal HbA1c levels abnormal glycosylated haemoglobin A1c level abnormal glycosylated haemoglobin level abnormal glycosylated hemoglobin A1c level MPheno.ontology MP:0006351 abnormal glycosylated hemoglobin level MP:0006351 aberrant concentration in the blood of modified form of hemoglobin with an attached saccharide molecule; this is commonly used to estimate blood glucose levels over the lifespan of the red blood cell MGI:Riken https://orcid.org/0000-0003-4606-0597 lower than normal blood concentration of a modified form of hemoglobin with an attached saccharide molecule decreased HbA1c level decreased glycosylated haemoglobin A1c level decreased glycosylated haemoglobin level decreased glycosylated hemoglobin A1c level reduced glycosylated haemoglobin level reduced glycosylated hemoglobin level MPheno.ontology MP:0006352 decreased glycosylated hemoglobin level MP:0006352 lower than normal blood concentration of a modified form of hemoglobin with an attached saccharide molecule MGI:Riken https://orcid.org/0000-0003-4606-0597 greater than normal blood concentration of a modified form of hemoglobin with an attached saccharide molecule increased HbA1c level increased glycosylated haemoglobin A1c level increased glycosylated haemoglobin level increased glycosylated hemoglobin A1c level MPheno.ontology MP:0006353 increased glycosylated hemoglobin level MP:0006353 greater than normal blood concentration of a modified form of hemoglobin with an attached saccharide molecule MGI:Riken https://orcid.org/0000-0003-4606-0597 any structural anomaly of the vessels formed within the fourth pair of branchial arches in embryogenesis abnormal fourth PAA abnormal fourth aortic arch abnormal fourth branchial arch artery morphology MPheno.ontology MP:0006354 abnormal fourth pharyngeal arch artery morphology MP:0006354 any structural anomaly of the vessels formed within the fourth pair of branchial arches in embryogenesis https://orcid.org/0000-0003-4606-0597 any structural anomaly of the vessels formed within the sixth pair of branchial arches in embryogenesis abnormal sixth PAA abnormal sixth aortic arch abnormal sixth branchial arch artery morphology MPheno.ontology MP:0006355 abnormal sixth pharyngeal arch artery morphology MP:0006355 any structural anomaly of the vessels formed within the sixth pair of branchial arches in embryogenesis https://orcid.org/0000-0003-4606-0597 any structural anomaly of the vessels formed within the third pair of branchial arches in embryogenesis abnormal carotid arch morphology abnormal third PAA abnormal third aortic arch abnormal third branchial arch artery morphology MPheno.ontology MP:0006356 abnormal third pharyngeal arch artery morphology MP:0006356 any structural anomaly of the vessels formed within the third pair of branchial arches in embryogenesis https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration in the blood of any naturally occurring, homogeneous inorganic solid substance having a definite chemical composition and highly ordered atomic arrangement that is required for growth and survival MPheno.ontology MP:0006357 abnormal circulating mineral level MP:0006357 any anomaly in the concentration in the blood of any naturally occurring, homogeneous inorganic solid substance having a definite chemical composition and highly ordered atomic arrangement that is required for growth and survival https://orcid.org/0000-0003-4606-0597 complete failure to respond to an auditory stimulus by a characteristic ear twitch absent Preyer's reflex absent ear twitch response MPheno.ontology MP:0006358 absent pinna reflex MP:0006358 complete failure to respond to an auditory stimulus by a characteristic ear twitch https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 failure to respond to variable stimuli, often auditory; usually measured by amplitude of whole body flinch MPheno.ontology MP:0006359 absent startle reflex MP:0006359 failure to respond to variable stimuli, often auditory; usually measured by amplitude of whole body flinch https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 true MP:0006360 any structural anomaly female germ cells whether they are undifferentiated or fully differentiated MPheno.ontology MP:0006361 abnormal female germ cell morphology MP:0006361 any structural anomaly female germ cells whether they are undifferentiated or fully differentiated MGI:llw2 any structural anomaly of male germ cells whether they are undifferentiated or fully differentiated MPheno.ontology MP:0006362 abnormal male germ cell morphology MP:0006362 any structural anomaly of male germ cells whether they are undifferentiated or fully differentiated MGI:llw2 absence of truncal hairs having a single constriction and bend about midway along the hair shaft, and contain two or more air cells in the medulla MPheno.ontology MP:0006363 absent auchene hairs MP:0006363 absence of truncal hairs having a single constriction and bend about midway along the hair shaft, and contain two or more air cells in the medulla ISBN:0-8493-8372-2 MGI:llw2 absence of truncal hairs that are straight, but are shorter than guard hairs, and contain two or more air cells in the medulla MPheno.ontology MP:0006364 absent awl hair MP:0006364 absence of truncal hairs that are straight, but are shorter than guard hairs, and contain two or more air cells in the medulla ISBN:0-8493-8372-2 MGI:llw2 absence of the long, straight truncal hairs that contain two air cells in the medulla absent monotrich hair MPheno.ontology MP:0006365 absent guard hair MP:0006365 absence of the long, straight truncal hairs that contain two air cells in the medulla ISBN:0-8493-8372-2 MGI:llw2 absence of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla MPheno.ontology MP:0006366 absent zigzag hairs MP:0006366 absence of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla ISBN:0-8493-8372-2 MGI:llw2 absence of any of the coil glands of the skin that secrete sweat MPheno.ontology MP:0006367 absent sweat gland MP:0006367 absence of any of the coil glands of the skin that secrete sweat MGI:llw2 true MP:0006368 more than the usual number of incisors, normally consisting of two pairs, top and bottom, of the long teeth that are the most anterior and prominent in the jaw increased incisor number MPheno.ontology MP:0006369 supernumerary incisors MP:0006369 more than the usual number of incisors, normally consisting of two pairs, top and bottom, of the long teeth that are the most anterior and prominent in the jaw MGI:llw2 https://orcid.org/0000-0003-3691-0324 anomaly in the amount or distribution of yellow pigment in the hair follicle abnormal hair follicle phaeomelanosome phaeomelanin content MPheno.ontology abnormal agouti banding MP:0006370 abnormal hair follicle pheomelanosome pheomelanin content MP:0006370 anomaly in the amount or distribution of yellow pigment in the hair follicle MGI:llw2 https://orcid.org/0000-0003-4606-0597 yellow pigment is not present in pheomelanosomes of the hair follicle absent hair follicle phaeomelanosome phaeomelanin MPheno.ontology absent agouti banding MP:0006371 absent hair follicle pheomelanosome pheomelanin MP:0006371 yellow pigment is not present in pheomelanosomes of the hair follicle MGI:llw2 https://orcid.org/0000-0003-4606-0597 reduction in the ability of the placenta to supply nutrients or remove waste placental dysfunction placental insufficiency MPheno.ontology MP:0006372 impaired placental function MP:0006372 reduction in the ability of the placenta to supply nutrients or remove waste https://orcid.org/0000-0003-4606-0597 anomaly in the concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I abnormal circulating angiotensin precursor level MPheno.ontology MP:0006373 abnormal circulating angiotensinogen level MP:0006373 anomaly in the concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I https://orcid.org/0000-0003-4606-0597 OBSOLETE. anomaly in the concentration of ions in the blood MP:0008996 MPheno.ontology MP:0006374 obsolete abnormal blood osmolality true MP:0006374 OBSOLETE. anomaly in the concentration of ions in the blood https://orcid.org/0000-0003-4606-0597 greater than normal concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I MPheno.ontology MP:0006375 increased circulating angiotensinogen level MP:0006375 greater than normal concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I https://orcid.org/0000-0003-4606-0597 less than normal concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I reduced circulating angiotensinogen level MPheno.ontology MP:0006376 decreased circulating angiotensinogen level MP:0006376 less than normal concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I https://orcid.org/0000-0003-4606-0597 any anomaly in the neural reflex which results from activation of afferents from the vestibular organs and uses neck movements to stabilize the head position in space abnormal VCR abnormal vestibulo-collic reflex MPheno.ontology MP:0006377 abnormal vestibulocollic reflex MP:0006377 any anomaly in the neural reflex which results from activation of afferents from the vestibular organs and uses neck movements to stabilize the head position in space https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the large unspecialized male germ cells that give rise to spermatocytes abnormal spermatogonium MPheno.ontology MP:0006378 abnormal spermatogonia morphology MP:0006378 any structural anomaly of the large unspecialized male germ cells that give rise to spermatocytes ISBN:0803606559 https://orcid.org/0000-0003-4606-0597 any structural anomaly of male germ cells that through meiosis give rise to spermatids MPheno.ontology MP:0006379 abnormal spermatocyte morphology MP:0006379 any structural anomaly of male germ cells that through meiosis give rise to spermatids ISBN:0803606559 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the male germ cells that without further cell division give rise to mature spermatozoa MPheno.ontology MP:0006380 abnormal spermatid morphology MP:0006380 any structural anomaly of the male germ cells that without further cell division give rise to mature spermatozoa ISBN:0803606559 https://orcid.org/0000-0003-4606-0597 true MP:0006381 any structural anomaly of the epithelial layer of the lung MPheno.ontology MP:0006382 abnormal lung epithelium morphology MP:0006382 any structural anomaly of the epithelial layer of the lung MGI:rbabiuk https://orcid.org/0000-0003-4606-0597 any anomaly in the frequency resolution of the cochlea, normally determined by the passive mechanical properties of the basilar membrane and active feedback from the outer hair cells which detect and amplify sound-induced basilar membrane motions abnormal cochlear tuning abnormal frequency resolution of the cochlea MPheno.ontology MP:0006383 abnormal cochlear frequency tuning MP:0006383 any anomaly in the frequency resolution of the cochlea, normally determined by the passive mechanical properties of the basilar membrane and active feedback from the outer hair cells which detect and amplify sound-induced basilar membrane motions https://orcid.org/0000-0002-6490-7723 increase in the sharpness of frequency resolution of the cochlea sharpened cochlear frequency tuning MPheno.ontology MP:0006384 enhanced cochlear frequency tuning MP:0006384 increase in the sharpness of frequency resolution of the cochlea https://orcid.org/0000-0002-6490-7723 true MP:0006385 absence of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo MPheno.ontology MP:0006386 absent somites MP:0006386 absence of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo https://orcid.org/0000-0002-6490-7723 deviation from the normal count of T cells abnormal T lymphocyte number abnormal T-cell number MPheno.ontology MP:0006387 abnormal T cell number MP:0006387 deviation from the normal count of T cells https://orcid.org/0000-0003-4606-0597 any anomaly in the dc shift in the waveform sustained for the duration of a toneburst stimulus that represents the depolarization of sensory hair cells in the cochlea; positive summating potentials (SPs) reflect activity of basal turn hair cells while negative SPs are derived from hair cell activity in the apical turn; negative SPs tend to be obtained at low frequencies and low intensities of stimulus, while positive SPs are recorded in response to high frequencies and high intensities abnormal SP abnormal summating potential MPheno.ontology MP:0006388 abnormal auditory summating potential MP:0006388 any anomaly in the dc shift in the waveform sustained for the duration of a toneburst stimulus that represents the depolarization of sensory hair cells in the cochlea; positive summating potentials (SPs) reflect activity of basal turn hair cells while negative SPs are derived from hair cell activity in the apical turn; negative SPs tend to be obtained at low frequencies and low intensities of stimulus, while positive SPs are recorded in response to high frequencies and high intensities PMID:1526886 https://orcid.org/0000-0003-3691-0324 change in the normal production (volume) or ionic homeostasis of the fluid contained within the vestibule of the inner ear; unlike cochlear endolymph this fluid does not have a high potential MPheno.ontology MP:0006389 abnormal vestibular endolymph physiology MP:0006389 change in the normal production (volume) or ionic homeostasis of the fluid contained within the vestibule of the inner ear; unlike cochlear endolymph this fluid does not have a high potential https://orcid.org/0000-0003-4606-0597 change in the normal production (volume) or ionic homeostasis of the fluid contained within the cochlea of the inner ear MPheno.ontology MP:0006390 abnormal cochlear endolymph physiology MP:0006390 change in the normal production (volume) or ionic homeostasis of the fluid contained within the cochlea of the inner ear https://orcid.org/0000-0003-4606-0597 anomaly in the processes involved in the maintenance of an internal equilibrium of charged molecules in the vestibular endolymph MPheno.ontology MP:0006391 abnormal vestibular endolymph ionic homeostasis MP:0006391 anomaly in the processes involved in the maintenance of an internal equilibrium of charged molecules in the vestibular endolymph https://orcid.org/0000-0003-4606-0597 any structural anomaly of the jelly-like substance in the middle of the spinal disc which is a remnant of the notochord MPheno.ontology MP:0006392 abnormal nucleus pulposus morphology MP:0006392 any structural anomaly of the jelly-like substance in the middle of the spinal disc which is a remnant of the notochord MGI:llw2 missing the notochord remnant normally found in the center of the intervertebral disc MPheno.ontology MP:0006393 absent nucleus pulposus MP:0006393 missing the notochord remnant normally found in the center of the intervertebral disc MGI:llw2 any structural anomaly of the lateral cartilaginous centers of ossification; may be found on the lateral, upper, and/or lower surfaces of the vertebrae at different times during development abnormal vertebral epiphysial plate abnormal vertebral growth plate MPheno.ontology MP:0006394 abnormal vertebral epiphyseal plate morphology MP:0006394 any structural anomaly of the lateral cartilaginous centers of ossification; may be found on the lateral, upper, and/or lower surfaces of the vertebrae at different times during development ISBN:0-914294-08-3 MGI:llw2 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the cartilaginous center of ossification on the bones permitting growth of the bone in both directions during development abnormal epiphyseal cartilage abnormal epiphysial plate morphology abnormal growth plate morphology MPheno.ontology MP:0006395 abnormal epiphyseal plate morphology MP:0006395 any structural anomaly of the cartilaginous center of ossification on the bones permitting growth of the bone in both directions during development MESH:A02.835.232.251.352 reduced size of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles reduced long bone epiphyseal plate size short long bone epiphyseal plate MPheno.ontology MP:0006396 decreased long bone epiphyseal plate size MP:0006396 reduced size of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles https://orcid.org/0000-0003-4606-0597 a lack of the regular arrangement of the cells or zones of the epiphyseal plate MPheno.ontology MP:0006397 disorganized long bone epiphyseal plate MP:0006397 a lack of the regular arrangement of the cells or zones of the epiphyseal plate https://orcid.org/0000-0003-4606-0597 greater than the normal size of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles enlarged long bone epiphyseal plate expanded long bone epiphyseal plate MPheno.ontology MP:0006398 increased long bone epiphyseal plate size MP:0006398 greater than the normal size of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles https://orcid.org/0000-0003-4606-0597 any structural anomaly of the layer of the epiphyseal plate where new bone matrix is deposited MPheno.ontology MP:0006399 abnormal long bone epiphyseal ossification zone morphology MP:0006399 any structural anomaly of the layer of the epiphyseal plate where new bone matrix is deposited http://137.222.110.150/calnet/Introanat/Introanat.htm https://orcid.org/0000-0003-4606-0597 reduction in the number of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface reduced molar number reduced number of molars MPheno.ontology MP:0006400 decreased molar number MP:0006400 reduction in the number of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface https://orcid.org/0009-0005-7755-8314 a lack of the sebaceous glands of the corona and neck of the glans penis absent Tyson's gland absent Tyson's glands absent male preputial glands MPheno.ontology MP:0006401 absent male preputial gland MP:0006401 a lack of the sebaceous glands of the corona and neck of the glans penis https://orcid.org/0009-0005-7755-8314 reduced size of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface MPheno.ontology MP:0006402 small molars MP:0006402 reduced size of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface https://orcid.org/0000-0003-4606-0597 anomaly in the state of equilibrium in the cochlear endolymph with respect to charged molecules; cochlear endolymph is not only an unusual extracellular fluid for its high potassium ion and low sodium ion concentration but also for its low calcium ion concentration, high HCO3- concentration and low protein content MPheno.ontology MP:0006403 abnormal cochlear endolymph ionic homeostasis MP:0006403 anomaly in the state of equilibrium in the cochlear endolymph with respect to charged molecules; cochlear endolymph is not only an unusual extracellular fluid for its high potassium ion and low sodium ion concentration but also for its low calcium ion concentration, high HCO3- concentration and low protein content https://orcid.org/0000-0002-6490-7723 any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the lumbar vertebrae abnormal lumbar DRG morphology abnormal lumbar dorsal root ganglia morphology MPheno.ontology MP:0006404 abnormal lumbar dorsal root ganglion morphology MP:0006404 any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the lumbar vertebrae https://orcid.org/0000-0003-4606-0597 any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the third lumbar vertebra abnormal L3 DRG morphology abnormal L3 dorsal root ganglia morphology MPheno.ontology MP:0006405 abnormal L3 dorsal root ganglion morphology MP:0006405 any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the third lumbar vertebra https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 true MP:0006406 true MP:0006407 decrease in the number of normal cells in normal arrangement in the dorsal root ganglion, typically resulting in decreased size DRG hypoplasia decreased cellularity of dorsal root ganglion dorsal root ganglia hypoplasia MPheno.ontology MP:0006408 dorsal root ganglion hypoplasia MP:0006408 decrease in the number of normal cells in normal arrangement in the dorsal root ganglion, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 decrease in the number of normal cells in normal arrangement in the vestibular ganglion, typically resulting in decreased size Scarpa ganglion hypoplasia hypoplastic Scarpa's ganglion MPheno.ontology MP:0006409 vestibular ganglion hypoplasia MP:0006409 decrease in the number of normal cells in normal arrangement in the vestibular ganglion, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the hematopoietic stem cells that are capable of forming any of the myeloid lineage cells (erythrocytes, granulocytes, thrombocytes, monocytes, and mast cells) but not cells of the lymphoid lineage abnormal CMPs myeloid stem cell abnormalities MPheno.ontology abnormal CFU-S morphology abnormal cfu-gemm morphology abnormal colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte morphology abnormal multipotential myeloid stem cell morphology abnormal myeloid stem cell morphology abnormal pluripotent stem cell (bone marrow) morphology MP:0006410 abnormal common myeloid progenitor cell morphology MP:0006410 any structural anomaly of the hematopoietic stem cells that are capable of forming any of the myeloid lineage cells (erythrocytes, granulocytes, thrombocytes, monocytes, and mast cells) but not cells of the lymphoid lineage https://orcid.org/0000-0003-4606-0597 abnormal CMPs ISBN:0878932437 abnormal CFU-S morphology ISBN:0878932437 abnormal cfu-gemm morphology ISBN:0878932437 abnormal colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte morphology ISBN:0878932437 abnormal multipotential myeloid stem cell morphology ISBN:0878932437 abnormal myeloid stem cell morphology ISBN:0878932437 abnormal pluripotent stem cell (bone marrow) morphology ISBN:0878932437 muzzle has a curve or tilt such that the tip points upwards MPheno.ontology MP:0006411 upturned snout MP:0006411 muzzle has a curve or tilt such that the tip points upwards MGI:brs https://orcid.org/0000-0003-4606-0597 change in the timing or the number of T cells undergoing programmed cell death abnormal T lymphocyte apoptosis abnormal T-cell apoptosis abnormal T-lymphocyte apoptosis MPheno.ontology MP:0006412 abnormal T cell apoptosis MP:0006412 change in the timing or the number of T cells undergoing programmed cell death MGI:brs https://orcid.org/0000-0003-4606-0597 increase in the number of T cells undergoing programmed cell death increased T lymphocyte apoptosis increased T-cell apoptosis increased T-lymphocyte apoptosis MPheno.ontology MP:0006413 increased T cell apoptosis MP:0006413 increase in the number of T cells undergoing programmed cell death MGI:brs https://orcid.org/0000-0003-4606-0597 decrease in the number of T cells undergoing programmed cell death decreased T lymphocyte apoptosis decreased T-cell apoptosis decreased T-lymphocyte apoptosis reduced T lymphocyte apoptosis reduced T-cell apoptosis reduced T-lymphocyte apoptosis MPheno.ontology MP:0006414 decreased T cell apoptosis MP:0006414 decrease in the number of T cells undergoing programmed cell death https://orcid.org/0000-0003-4606-0597 absence of the male reproductive glands containing the germ cells bilateral testicular aplasia male agonadism anorchia anorchidism anorchism bilateral testicular agenesis congenital absence of both testes MPheno.ontology MP:0006415 absent testes MP:0006415 absence of the male reproductive glands containing the germ cells https://orcid.org/0000-0002-6490-7723 any structural anomaly of the network of canals at the termination of the straight tubules in the mediastinum testis abnormal Haller rete abnormal rete halleri MPheno.ontology MP:0006416 abnormal rete testis morphology MP:0006416 any structural anomaly of the network of canals at the termination of the straight tubules in the mediastinum testis https://orcid.org/0000-0002-6490-7723 any impediment or blockage of the network of canals at the termination of the straight tubules in the mediastinum testis blockade of rete testis MPheno.ontology MP:0006417 rete testis obstruction MP:0006417 any impediment or blockage of the network of canals at the termination of the straight tubules in the mediastinum testis https://orcid.org/0000-0002-6490-7723 any structural anomaly in the formation of the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence; defective testis cord formation is most likely to reflect abnormal function of either Sertoli cells or peritubular myoid (PTM) cells which normally cooperate to deposit a layer of basal lamina that defines the edges of individual testis cords abnormal seminiferous cords abnormal testis cords defective testis cord formation impaired testis cord differentiation incomplete testis cord development MPheno.ontology MP:0006418 abnormal testis cord formation MP:0006418 any structural anomaly in the formation of the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence; defective testis cord formation is most likely to reflect abnormal function of either Sertoli cells or peritubular myoid (PTM) cells which normally cooperate to deposit a layer of basal lamina that defines the edges of individual testis cords https://orcid.org/0000-0002-6490-7723 derangement of the pattern of the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence disorganised testis cords MPheno.ontology MP:0006419 disorganized testis cords MP:0006419 derangement of the pattern of the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence https://orcid.org/0000-0002-6490-7723 any structural anomaly of the flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule abnormal PTM cells abnormal peritubular contractile cells MPheno.ontology MP:0006420 During testis cord differentiation, PTM cells surround the testis cord, separating it from the peritubular space and contributing to the production of the basal lamina. abnormal peritubular myoid cell morphology MP:0006420 any structural anomaly of the flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule https://orcid.org/0000-0002-6490-7723 reduced number of the flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule reduced PTM cell numbers reduced number of peritubular contractile cells MPheno.ontology MP:0006421 decreased number of peritubular myoid cells MP:0006421 reduced number of the flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule https://orcid.org/0000-0002-6490-7723 higher than normal incidence of malignant tumors in which some cells have undergone squamous metaplasia in the mammary gland MPheno.ontology mammary adenoacanthoma MP:0006422 increased mammary adenoacanthoma incidence MP:0006422 higher than normal incidence of malignant tumors in which some cells have undergone squamous metaplasia in the mammary gland ISBN:0-8036-0655-9 MGI:rbabiuk https://orcid.org/0000-0003-4606-0597 an expansion in the volume or area of the network of canals located at the termination of the straight tubules in the mediastinum testis, usually with an increase in contained fluid dilated retia testes rete testis dilation MPheno.ontology MP:0006423 dilated rete testis MP:0006423 an expansion in the volume or area of the network of canals located at the termination of the straight tubules in the mediastinum testis, usually with an increase in contained fluid https://orcid.org/0000-0002-6490-7723 missing the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence absent seminiferous cords absent testis sex cords MPheno.ontology MP:0006424 absent testis cords MP:0006424 missing the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence https://orcid.org/0000-0002-6490-7723 absence of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina Mullerian duct agenesis Mullerian duct aplasia absent Meller ducts absent paramesonephric ducts MPheno.ontology MP:0006425 absent Mullerian ducts MP:0006425 absence of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina https://orcid.org/0000-0002-6490-7723 a retrogressive impairment of function or destruction of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina Muller duct degeneration paramesonephric duct degeneration MPheno.ontology MP:0006426 Mullerian duct degeneration MP:0006426 a retrogressive impairment of function or destruction of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina https://orcid.org/0000-0002-6490-7723 abnormal position of the testosterone-secreting cells normally found adjacent to the seminiferous tubules, within the interstitium of the testis heterotopic Leydig cells MPheno.ontology MP:0006427 ectopic Leydig cells MP:0006427 abnormal position of the testosterone-secreting cells normally found adjacent to the seminiferous tubules, within the interstitium of the testis https://orcid.org/0000-0002-6490-7723 abnormal position of the supporting cells of the seminiferous tubule epithelium that create the blood-testes barrier and enable spermatogenesis heterotopic Sertoli cells MPheno.ontology MP:0006428 ectopic Sertoli cells MP:0006428 abnormal position of the supporting cells of the seminiferous tubule epithelium that create the blood-testes barrier and enable spermatogenesis https://orcid.org/0000-0002-6490-7723 any structural anomaly of the bluish-white, glassy, translucent nonvascular, resilient, flexible connective tissue; found primarily in articular cartilage, costal cartilages, the nasal septum, the larynx, and the trachea MPheno.ontology MP:0006429 abnormal hyaline cartilage morphology MP:0006429 any structural anomaly of the bluish-white, glassy, translucent nonvascular, resilient, flexible connective tissue; found primarily in articular cartilage, costal cartilages, the nasal septum, the larynx, and the trachea ISBN:0-8036-0655-9 MGI:rbabiuk any structural anomaly of the nonvascular, resilient, flexible connective tissue containing elastin fibers; found primarily in the epiglottis, external ear, and auditory tubes abnormal yellow cartilage morphology MPheno.ontology MP:0006430 abnormal elastic cartilage morphology MP:0006430 any structural anomaly of the nonvascular, resilient, flexible connective tissue containing elastin fibers; found primarily in the epiglottis, external ear, and auditory tubes ISBN:0-8036-0655-9 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the nonvascular, resilient, flexible connective tissue containing thick bundles of collagenous fibers; found primarily in intervertebral disks abnormal fibrous cartilage morphology MPheno.ontology MP:0006431 abnormal fibrocartilage morphology MP:0006431 any structural anomaly of the nonvascular, resilient, flexible connective tissue containing thick bundles of collagenous fibers; found primarily in intervertebral disks ISBN:0-8036-0655-9 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the nonvascular, resilient, flexible hyaline connective tissue that connects the end of a true rib to the sternum or the end of a false rib with the with the lower border of the costal cartilage above it MPheno.ontology MP:0006432 abnormal costal cartilage morphology MP:0006432 any structural anomaly of the nonvascular, resilient, flexible hyaline connective tissue that connects the end of a true rib to the sternum or the end of a false rib with the with the lower border of the costal cartilage above it ISBN:0-8036-0655-9 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the thin layer of smooth hyaline cartilage located on the joint surfaces of a bone MPheno.ontology MP:0006433 abnormal articular cartilage morphology MP:0006433 any structural anomaly of the thin layer of smooth hyaline cartilage located on the joint surfaces of a bone ISBN:0-8036-0655-9 https://orcid.org/0000-0003-4606-0597 greater than the expected number of neoplams in the ovary occurring in a specific population in a given time period increased ovarian tumor incidence increased ovarian tumour incidence increased ovary tumour incidence MPheno.ontology ovarian tumor ovarian tumour MP:0008000 increased ovary tumor incidence MP:0008000 greater than the expected number of neoplams in the ovary occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 reduced hydrochloric acid content of the gastric secretions MPheno.ontology MP:0008001 hypochlorhydria MP:0008001 reduced hydrochloric acid content of the gastric secretions https://orcid.org/0000-0003-3691-0324 increased hydrochloric acid content of the gastric secretions MPheno.ontology MP:0008002 hyperchlorhydria MP:0008002 increased hydrochloric acid content of the gastric secretions https://orcid.org/0000-0003-3691-0324 absence of hydrochloric acid in the gastric secretions MPheno.ontology MP:0008003 achlorhydria MP:0008003 absence of hydrochloric acid in the gastric secretions https://orcid.org/0000-0003-3691-0324 anomaly in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, as measured by the concentration of the hydrogen ion abnormal gastric pH MPheno.ontology MP:0008004 abnormal stomach pH MP:0008004 anomaly in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, as measured by the concentration of the hydrogen ion https://orcid.org/0000-0003-3691-0324 change in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, such that the acidity is increased, as indicated by the increased concentration of hydrogen ion reduced stomach pH MPheno.ontology MP:0008005 decreased stomach pH MP:0008005 change in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, such that the acidity is increased, as indicated by the increased concentration of hydrogen ion https://orcid.org/0000-0003-3691-0324 change in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, such that the acidity is decreased, as indicated by the decreased concentration of hydrogen ion elevated stomach pH MPheno.ontology MP:0008006 increased stomach pH MP:0008006 change in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, such that the acidity is decreased, as indicated by the decreased concentration of hydrogen ion https://orcid.org/0000-0003-3691-0324 anomaly in the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division MPheno.ontology MP:0008007 abnormal cellular replicative senescence MP:0008007 anomaly in the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division GO:0001302 https://orcid.org/0000-0003-4606-0597 increase in the progression of the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division premature cellular replicative senescence MPheno.ontology MP:0008008 early cellular replicative senescence MP:0008008 increase in the progression of the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division https://orcid.org/0000-0003-4606-0597 slower progression of the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division late senescence MPheno.ontology MP:0008009 delayed cellular replicative senescence MP:0008009 slower progression of the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division https://orcid.org/0000-0003-4606-0597 higher than normal incidence of a malignant neoplasm of epithelial cells in the stomach MPheno.ontology gastric adenocarcinoma stomach adenocarcinoma MP:0008010 increased gastric adenocarcinoma incidence MP:0008010 higher than normal incidence of a malignant neoplasm of epithelial cells in the stomach MGI:llw2 abnormal tissue masses that protrude into the lumen of the intestine and are tethered to the wall of the intestine intestinal polyposis intestinal polyps MPheno.ontology MP:0008011 intestine polyps MP:0008011 abnormal tissue masses that protrude into the lumen of the intestine and are tethered to the wall of the intestine MESH:C23.300.825.411 MGI:llw2 development of numerous growths that are connected to and protrude from the mucous membrane of the duodenum duodenal polyposis duodenal polyps MPheno.ontology MP:0008012 duodenum polyps MP:0008012 development of numerous growths that are connected to and protrude from the mucous membrane of the duodenum MGI:llw2 development of numerous growths that are connected to and protrude from the mucous membrane of the cecum caecum polyps cecal polyps cecum polyposis MPheno.ontology MP:0008013 cecum polyps MP:0008013 development of numerous growths that are connected to and protrude from the mucous membrane of the cecum MGI:llw2 greater than the expected number of neoplasms in the lung, usually in the form of a distinct mass, in a specific population in a given time period increased lung tumour incidence MPheno.ontology MP:0008014 increased lung tumor incidence MP:0008014 greater than the expected number of neoplasms in the lung, usually in the form of a distinct mass, in a specific population in a given time period MGI:llw2 any structural anomaly of the passage in the lower abdominal wall through which the round ligament, nerves and vessels pass from the pelvic cavity to labia majora MPheno.ontology MP:0008015 abnormal female inguinal canal morphology MP:0008015 any structural anomaly of the passage in the lower abdominal wall through which the round ligament, nerves and vessels pass from the pelvic cavity to labia majora MGI:llw2 any structural anomaly of the passage in the lower abdominal wall through which the spermatic cord, nerves and vessels pass from the pelvic cavity to the scrotum abnormal male Velpeau canal morphology abnormal male abdominal canal morphology abnormal male canalis inguinalis morphology MPheno.ontology MP:0008016 abnormal male inguinal canal morphology MP:0008016 any structural anomaly of the passage in the lower abdominal wall through which the spermatic cord, nerves and vessels pass from the pelvic cavity to the scrotum MGI:llw2 presence of one or more benign epithelial growths in the wall of the inguinal canal cystic inguinal canal inguinal canal cyst inguinal canal cysts inguinal cysts MPheno.ontology MP:0008017 inguinal cyst MP:0008017 presence of one or more benign epithelial growths in the wall of the inguinal canal MGI:llw2 greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period increased facial tumour incidence MPheno.ontology MP:0008018 increased facial tumor incidence MP:0008018 greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period MGI:llw2 greater than the expected number of neoplasms in the liver, usually in the form of a distinct mass, in a specific population in a given time period increased hepatic tumor incidence increased hepatic tumour incidence increased liver tumour incidence MPheno.ontology MP:0008019 increased liver tumor incidence MP:0008019 greater than the expected number of neoplasms in the liver, usually in the form of a distinct mass, in a specific population in a given time period MGI:llw2 https://orcid.org/0000-0003-3691-0324 any structural anomaly of cells located in connective tissue of the dermis that contain numerous basophilic granules and release substances such as heparin and histamine in response to injury or inflammation MPheno.ontology MP:0008020 abnormal dermal mast cell morphology MP:0008020 any structural anomaly of cells located in connective tissue of the dermis that contain numerous basophilic granules and release substances such as heparin and histamine in response to injury or inflammation MGI:llw2 higher than normal incidence of a fast growing and invasive tumor composed chiefly or entirely of immature undifferentiated cells that have embryonic characteristics resembling the primordium of the organ in which the tumor arose MPheno.ontology blastoma MP:0008021 increased blastoma incidence MP:0008021 higher than normal incidence of a fast growing and invasive tumor composed chiefly or entirely of immature undifferentiated cells that have embryonic characteristics resembling the primordium of the organ in which the tumor arose https://orcid.org/0000-0003-3691-0324 the luminal space of one or both of the lower chambers of the heart is increased in volume or area, usually with an increase in contained fluid cardiac ventricle dilation cardiac ventricular dilation dilated cardiac ventricle dilated cardiac ventricles dilated heart ventricles heart ventricle dilation heart ventricular dilation MPheno.ontology MP:0008022 dilated heart ventricle MP:0008022 the luminal space of one or both of the lower chambers of the heart is increased in volume or area, usually with an increase in contained fluid https://orcid.org/0000-0003-3691-0324 any structural anomaly in the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments abnormal processus styloideus ossis temporalis abnormal temporal bone styloid process morphology MPheno.ontology MP:0008023 abnormal styloid process morphology MP:0008023 any structural anomaly in the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments https://orcid.org/0000-0002-6490-7723 absence of the oval or bean shaped bodies located along the lymphatic system that consist of densely packed lymphocytes, lymph fluid and connective tissue; these are the sites where acquired immune responses are launched MPheno.ontology MP:0008024 absent lymph nodes MP:0008024 absence of the oval or bean shaped bodies located along the lymphatic system that consist of densely packed lymphocytes, lymph fluid and connective tissue; these are the sites where acquired immune responses are launched https://orcid.org/0000-0003-3691-0324 abnormal presence of fluid-filled vesicles in the soma of brain cells, often indicative of spongiosis or other pathological states vacuoles in the brain MPheno.ontology MP:0008025 brain vacuoles MP:0008025 abnormal presence of fluid-filled vesicles in the soma of brain cells, often indicative of spongiosis or other pathological states https://orcid.org/0000-0003-3691-0324 any structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites abnormal brain alba morphology abnormal brain white substance morphology MPheno.ontology MP:0008026 abnormal brain white matter morphology MP:0008026 any structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites https://orcid.org/0000-0003-3691-0324 any structural anomaly of the regions of the spinal cord that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites MA:0000910 abnormal spinal cord alba morphology abnormal spinal cord white substance morphology MPheno.ontology MP:0008027 abnormal spinal cord white matter morphology MP:0008027 any structural anomaly of the regions of the spinal cord that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites https://orcid.org/0000-0003-3691-0324 death occurring before the normal life span of an organism, occurring during pregnancy, parturition or lactation MPheno.ontology MP:0008028 pregnancy-related premature death MP:0008028 death occurring before the normal life span of an organism, occurring during pregnancy, parturition or lactation MGI:hdene https://orcid.org/0000-0003-3691-0324 any structural anomaly of the mesoderm located bilaterally adjacent to the notochord and neural tube; on segmentation, paraxial mesoderm forms the paired somites abnormal paraxial mesenchyme morphology abnormal somitic mesoderm MPheno.ontology MP:0008029 abnormal paraxial mesoderm morphology MP:0008029 any structural anomaly of the mesoderm located bilaterally adjacent to the notochord and neural tube; on segmentation, paraxial mesoderm forms the paired somites https://orcid.org/0000-0002-6490-7723 any structural anomaly of the distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus MPheno.ontology MP:0008030 abnormal Cajal-Retzius cell morphology MP:0008030 any structural anomaly of the distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus https://orcid.org/0009-0005-7755-8314 reduced number of the distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus decreased number of Cajal-Retzius cells reduced Cajal-Retzius cell number reduced number of Cajal-Retzius cells MPheno.ontology MP:0008031 decreased Cajal-Retzius cell number MP:0008031 reduced number of the distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus https://orcid.org/0009-0005-7755-8314 anomaly in the process of the hydrolysis of fat into free fatty acids abnormal lipoclasis abnormal lipodieresis MPheno.ontology MP:0008032 abnormal lipolysis MP:0008032 anomaly in the process of the hydrolysis of fat into free fatty acids https://orcid.org/0000-0003-3691-0324 reduction in the rate of the hydrolysis of fat into free fatty acids decreased lipolysis reduced lipolysis MPheno.ontology MP:0008033 impaired lipolysis MP:0008033 reduction in the rate of the hydrolysis of fat into free fatty acids https://orcid.org/0000-0003-3691-0324 increase in the rate of the hydrolysis of fat into free fatty acids increased lipolysis MPheno.ontology MP:0008034 enhanced lipolysis MP:0008034 increase in the rate of the hydrolysis of fat into free fatty acids https://orcid.org/0000-0003-3691-0324 locomotor activity is interrupted by sudden periods of no movement behavioural arrest MPheno.ontology MP:0008035 behavioral arrest MP:0008035 locomotor activity is interrupted by sudden periods of no movement MGI:llw2 any structural anomaly of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments abnormal NK T lymphocyte morphology abnormal NK T-cell morphology abnormal NK T-lymphocyte morphology abnormal NKT cell morphology abnormal natural T cell morphology abnormal natural killer T cell morphology abnormal natural killer T lymphocyte morphology abnormal natural killer T-cell morphology abnormal natural killer T-lymphocyte morphology MPheno.ontology MP:0008036 Note that these are a distinct cell population from NK cells. abnormal NK T cell morphology MP:0008036 any structural anomaly of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments GO:0001865 any structural anomaly of lymphocytes that are responsible for cell-mediated immunity and immune system regulation T lymphocyte abnormalities T lymphocyte defects T-cell abnormalities abnormal T lymphocyte morphology abnormal T-cell morphology abnormal T-lymphocyte morphology abnormal thymocyte morphology MPheno.ontology abnormal T cell morphology/development MP:0008037 abnormal T cell morphology MP:0008037 any structural anomaly of lymphocytes that are responsible for cell-mediated immunity and immune system regulation https://orcid.org/0000-0003-3691-0324 deviation from the normal number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments abnormal NK T lymphocyte number abnormal NK T-cell number abnormal NK T-lymphocyte number abnormal NKT cell number abnormal natural T cell number abnormal natural killer T cell number abnormal natural killer T lymphocyte number abnormal natural killer T-cell number abnormal natural killer T-lymphocyte number MPheno.ontology MP:0008038 abnormal NK T cell number MP:0008038 deviation from the normal number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments GO:0001865 greater number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments increased NK T lymphocyte number increased NK T-cell number increased NK T-lymphocyte number increased NKT cell number increased natural T cell number increased natural killer T cell number increased natural killer T lymphocyte number increased natural killer T-cell number increased natural killer T-lymphocyte number MPheno.ontology MP:0008039 increased NK T cell number MP:0008039 greater number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments GO:0001865 reduced number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments decreased NK T lymphocyte number decreased NK T-cell number decreased NK T-lymphocyte number decreased NKT cell number decreased natural T cell number decreased natural killer T cell number decreased natural killer T lymphocyte number decreased natural killer T-cell number decreased natural killer T-lymphocyte number reduced NK T cell number reduced NK T lymphocyte number reduced NK T-cell number reduced NK T-lymphocyte number reduced NKT cell number reduced natural T cell number reduced natural killer T cell number reduced natural killer T lymphocyte number reduced natural killer T-cell number reduced natural killer T-lymphocyte number MPheno.ontology MP:0008040 decreased NK T cell number MP:0008040 reduced number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments GO:0001865 absence of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments absent NK T lymphocyte absent NK T-cell absent NK T-lymphocyte absent NKT cell absent natural T cell absent natural killer T cell absent natural killer T lymphocyte absent natural killer T-cell absent natural killer T-lymphocyte MPheno.ontology MP:0008041 absent NK T cells MP:0008041 absence of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments GO:0001865 any functional anomaly of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments abnormal NK T lymphocyte physiology abnormal NK T-cell physiology abnormal NK T-lymphocyte physiology abnormal NKT cell physiology abnormal natural T cell physiology abnormal natural killer T cell physiology abnormal natural killer T lymphocyte physiology abnormal natural killer T-cell physiology abnormal natural killer T-lymphocyte physiology MPheno.ontology MP:0008042 abnormal NK T cell physiology MP:0008042 any functional anomaly of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments GO:0001865 deviation in the number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells CL:0000623 FMA:63147 FMA:83601 abnormal natural killer cell number MPheno.ontology MP:0008043 abnormal NK cell number MP:0008043 deviation in the number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells ISBN:0781735149 PMID:15771571 https://orcid.org/0000-0003-3691-0324 greater number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells CL:0000623 FMA:63147 FMA:83601 increased natural killer cell number MPheno.ontology MP:0008044 increased NK cell number MP:0008044 greater number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells ISBN:0781735149 PMID:15771571 https://orcid.org/0000-0003-3691-0324 reduction in the number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells CL:0000623 FMA:63147 FMA:83601 decreased natural killer cell number reduced NK cell number reduced natural killer cell number MPheno.ontology MP:0008045 decreased NK cell number MP:0008045 reduction in the number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells ISBN:0781735149 PMID:15771571 https://orcid.org/0000-0003-3691-0324 absence of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells CL:0000623 FMA:63147 FMA:83601 absence of natural killer cells absent natural killer cells MPheno.ontology MP:0008046 absent NK cells MP:0008046 absence of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells ISBN:0781735149 PMID:15771571 https://orcid.org/0000-0003-3691-0324 absence of a natural killer cell subset that is found in the decidua of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy CL:0002343 absent GMG cells absent dNK cells absent decidual NK cells absent decidual natural killer cells absent granulated metrial gland cells absent uNK cells absent uterine natural killer cells MPheno.ontology MP:0008047 absent uterine NK cells MP:0008047 absence of a natural killer cell subset that is found in the decidua of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy PMID:14568979 PMID:19800965 deviation from the normal number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive CL:0000813 abnormal memory T lymphocyte number abnormal memory T-cell number abnormal memory T-lymphocyte number MPheno.ontology MP:0008048 abnormal memory T cell number MP:0008048 deviation from the normal number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive CL:0000813 GOC:add GOC:pam GOC:tfm GO_REF:0000031 ISBN:0781735149 increase in the number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive CL:0000813 increased memory T lymphocyte number increased memory T-cell number increased memory T-lymphocyte number MPheno.ontology MP:0008049 increased memory T cell number MP:0008049 increase in the number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive CL:0000813 GOC:add GOC:pam GOC:tfm GO_REF:0000031 ISBN:0781735149 reduction in the number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive CL:0000813 decreased memory T lymphocyte number decreased memory T-cell number decreased memory T-lymphocyte number reduced memory T cell number reduced memory T lymphocyte number reduced memory T-cell number reduced memory T-lymphocyte number MPheno.ontology MP:0008050 decreased memory T cell number MP:0008050 reduction in the number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive CL:0000813 GOC:add GOC:pam GOC:tfm GO_REF:0000031 ISBN:0781735149 any functional anomaly of the set of long-lived T cells differentiated from T cells activated by a specific antigen encountered during a past immune response MPheno.ontology MP:0008051 abnormal memory T cell physiology MP:0008051 any functional anomaly of the set of long-lived T cells differentiated from T cells activated by a specific antigen encountered during a past immune response MGI:adiehl MGI:rbabiuk http://www.biology-online.org/ any structural anomaly of glands that secrete watery albuminous material that often contains enzymes MPheno.ontology MP:0008052 abnormal serous gland morphology MP:0008052 any structural anomaly of glands that secrete watery albuminous material that often contains enzymes ISBN:0-683-40008-8 atypical production of or inability to produce mature lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells abnormal natural killer cell differentiation MPheno.ontology MP:0008053 abnormal NK cell differentiation MP:0008053 atypical production of or inability to produce mature lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells ISBN:0781735149 PMID:15771571 https://orcid.org/0000-0003-3691-0324 any structural anomaly of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy abnormal GMG cell morphology abnormal dNK cell morphology abnormal decidual NK cell morphology abnormal decidual natural killer cell morphology abnormal granulated metrial gland cell morphology abnormal uNK cell morphology abnormal uterine natural killer cell morphology MPheno.ontology MP:0008054 Granulated metrial gland cells are found in rodents and other species, but not in primates. The human equivalent of these cells has been described as uterine NK-cells, endometrial granulocytes or K cells. abnormal uterine NK cell morphology MP:0008054 any structural anomaly of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy PMID:14568979 PMID:19800965 increase in the amount of ions in the urine compared to the normal state MPheno.ontology MP:0008055 increased urine osmolality MP:0008055 increase in the amount of ions in the urine compared to the normal state https://orcid.org/0000-0003-3691-0324 any structural anomaly of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain abnormal retinal ganglion cell morphology MPheno.ontology MP:0008056 abnormal retina ganglion cell morphology MP:0008056 any structural anomaly of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain https://orcid.org/0000-0003-3691-0324 any anomaly in the process whereby new strands of DNA are synthesized GO:0006260 MPheno.ontology MP:0008057 abnormal DNA replication MP:0008057 any anomaly in the process whereby new strands of DNA are synthesized GO:0006260 any anomaly in the process of restoring DNA after damage or replication error GO:0006281 MPheno.ontology MP:0008058 abnormal DNA repair MP:0008058 any anomaly in the process of restoring DNA after damage or replication error GO:0006281 any structural anomaly of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries abnormal podocyte footplate morphology abnormal podocyte pedicel morphology MPheno.ontology MP:0008059 abnormal podocyte foot process morphology MP:0008059 any structural anomaly of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries ISBN:0-683-40008-8 any structural anomaly of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream MPheno.ontology MP:0008060 abnormal podocyte slit diaphragm morphology MP:0008060 any structural anomaly of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream https://orcid.org/0000-0003-3691-0324 absence of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream MPheno.ontology MP:0008061 absent podocyte slit diaphragm MP:0008061 absence of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream https://orcid.org/0000-0003-3691-0324 any structural anomaly of the gaps between the interdigitated foot processes of the podocyte abnormal podocyte filtration slit abnormal podocyte slit pore MPheno.ontology MP:0008062 abnormal podocyte slit junction morphology MP:0008062 any structural anomaly of the gaps between the interdigitated foot processes of the podocyte https://orcid.org/0000-0003-3691-0324 increase in the number of otic epithelial cells undergoing programmed cell death MPheno.ontology MP:0008063 increased otic epithelial cell apoptosis MP:0008063 increase in the number of otic epithelial cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 reduction in the expansion rate of the otic epithelial cell population by cell division decreased otic epithelium proliferation reduced otic epithelium proliferation reduced otic epithelial cell proliferation MPheno.ontology MP:0008064 decreased otic epithelial cell proliferation MP:0008064 reduction in the expansion rate of the otic epithelial cell population by cell division https://orcid.org/0000-0002-6490-7723 length reduction or truncation of the small membranous canal which connects with both saccule and utricle of the membranous labyrinth, passes through the aqueduct of vestibule, and terminates in the endolymphatic sac truncated endolymphatic duct MPheno.ontology MP:0008065 short endolymphatic duct MP:0008065 length reduction or truncation of the small membranous canal which connects with both saccule and utricle of the membranous labyrinth, passes through the aqueduct of vestibule, and terminates in the endolymphatic sac https://orcid.org/0000-0002-6490-7723 reduced size of the small membranous canal which connects with both saccule and utricle of the membranous labyrinth, passes through the aqueduct of vestibule, and terminates in the endolymphatic sac MPheno.ontology MP:0008066 small endolymphatic duct MP:0008066 reduced size of the small membranous canal which connects with both saccule and utricle of the membranous labyrinth, passes through the aqueduct of vestibule, and terminates in the endolymphatic sac https://orcid.org/0000-0002-6490-7723 degeneration or loss of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain retinal ganglion cell degeneration MPheno.ontology MP:0008067 retina ganglion cell degeneration MP:0008067 degeneration or loss of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain https://orcid.org/0000-0003-3691-0324 absence of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain absent retinal ganglion cell MPheno.ontology MP:0008068 absent retina ganglion cell MP:0008068 absence of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain https://orcid.org/0000-0003-3691-0324 anomaly in the ability to move joints in a full range of motion and with ease MPheno.ontology MP:0008069 abnormal joint mobility MP:0008069 anomaly in the ability to move joints in a full range of motion and with ease https://orcid.org/0000-0003-3691-0324 absence of the lymphocytes that are responsible for cell-mediated immunity and immune system regulation MPheno.ontology MP:0008070 absent T cells MP:0008070 absence of the lymphocytes that are responsible for cell-mediated immunity and immune system regulation https://orcid.org/0000-0003-3691-0324 absence of lymphocytes that expresses membrane-bound antibody, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens MPheno.ontology MP:0008071 absent B cells MP:0008071 absence of lymphocytes that expresses membrane-bound antibody, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens https://orcid.org/0000-0003-3691-0324 absence of the subset of T cells found in the thymus that express neither CD4 nor CD8 absent double negative T cells MPheno.ontology MP:0008072 absent double-negative T cells MP:0008072 absence of the subset of T cells found in the thymus that express neither CD4 nor CD8 ISBN:0-8153-1691-7 anomaly in the number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production abnormal CD4+ T cell number abnormal CD4-positive T cell number MPheno.ontology MP:0008073 Generally, when immunologists write CD8 positive T cell, what they mean is CD8-positive, alpha-beta T cell (CL:0000625). Similarly, when immunologists write CD4 positive T cell, what they mean is CD4-positive, alpha-beta T cell (CL:0000624). T cells bearing the alpha-beta T cell receptor are the most common in the body, and are the most commonly studied, so much so, that in many published papers, the authors do not even bother to specify (or assume) they are studying alpha-beta T cells and thus omit saying so. abnormal CD4-positive, alpha-beta T cell number MP:0008073 anomaly in the number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production https://orcid.org/0000-0003-3691-0324 greater number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production increased CD4+ T cell number increased CD4-positive T cell number MPheno.ontology MP:0008074 Generally, when immunologists write CD8 positive T cell, what they mean is CD8-positive, alpha-beta T cell (CL:0000625). Similarly, when immunologists write CD4 positive T cell, what they mean is CD4-positive, alpha-beta T cell (CL:0000624). T cells bearing the alpha-beta T cell receptor are the most common in the body, and are the most commonly studied, so much so, that in many published papers, the authors do not even bother to specify (or assume) they are studying alpha-beta T cells and thus omit saying so. increased CD4-positive, alpha-beta T cell number MP:0008074 greater number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production https://orcid.org/0000-0003-3691-0324 reduced number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production decreased CD4+ T cell number decreased CD4-positive T cell number reduced CD4+ T cell number MPheno.ontology MP:0008075 Generally, when immunologists write CD8 positive T cell, what they mean is CD8-positive, alpha-beta T cell (CL:0000625). Similarly, when immunologists write CD4 positive T cell, what they mean is CD4-positive, alpha-beta T cell (CL:0000624). T cells bearing the alpha-beta T cell receptor are the most common in the body, and are the most commonly studied, so much so, that in many published papers, the authors do not even bother to specify (or assume) they are studying alpha-beta T cells and thus omit saying so. decreased CD4-positive, alpha-beta T cell number MP:0008075 reduced number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production https://orcid.org/0000-0003-3691-0324 atypical production of or inability to produce the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production abnormal CD4+ T cell differentiation MPheno.ontology MP:0008076 abnormal CD4-positive T cell differentiation MP:0008076 atypical production of or inability to produce the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production https://orcid.org/0000-0003-3691-0324 anomaly in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions abnormal CD8+ T cell number abnormal CD8-positive T cell number MPheno.ontology MP:0008077 Generally, when immunologists write CD8 positive T cell, what they mean is CD8-positive, alpha-beta T cell (CL:0000625). Similarly, when immunologists write CD4 positive T cell, what they mean is CD4-positive, alpha-beta T cell (CL:0000624). T cells bearing the alpha-beta T cell receptor are the most common in the body, and are the most commonly studied, so much so, that in many published papers, the authors do not even bother to specify (or assume) they are studying alpha-beta T cells and thus omit saying so. abnormal CD8-positive, alpha-beta T cell number MP:0008077 anomaly in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions https://orcid.org/0000-0003-3691-0324 greater number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions increased CD8+ T cell number increased CD8-positive T cell number MPheno.ontology MP:0008078 Generally, when immunologists write CD8 positive T cell, what they mean is CD8-positive, alpha-beta T cell (CL:0000625). Similarly, when immunologists write CD4 positive T cell, what they mean is CD4-positive, alpha-beta T cell (CL:0000624). T cells bearing the alpha-beta T cell receptor are the most common in the body, and are the most commonly studied, so much so, that in many published papers, the authors do not even bother to specify (or assume) they are studying alpha-beta T cells and thus omit saying so. increased CD8-positive, alpha-beta T cell number MP:0008078 greater number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions https://orcid.org/0000-0003-3691-0324 reduction in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions decreased CD8+ T cell number decreased CD8-positive T cell number reduced CD8+ T cell number reduced CD8-positive T cell number MPheno.ontology MP:0008079 Generally, when immunologists write CD8 positive T cell, what they mean is CD8-positive, alpha-beta T cell (CL:0000625). Similarly, when immunologists write CD4 positive T cell, what they mean is CD4-positive, alpha-beta T cell (CL:0000624). T cells bearing the alpha-beta T cell receptor are the most common in the body, and are the most commonly studied, so much so, that in many published papers, the authors do not even bother to specify (or assume) they are studying alpha-beta T cells and thus omit saying so. decreased CD8-positive, alpha-beta T cell number MP:0008079 reduction in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions https://orcid.org/0000-0003-3691-0324 atypical production of or inability to produce the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions abnormal CD8+ T cell differentiation MPheno.ontology MP:0008080 abnormal CD8-positive, alpha-beta T cell differentiation MP:0008080 atypical production of or inability to produce the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions https://orcid.org/0000-0003-3691-0324 anomaly in the number of T cells bearing either CD4-positive or CD8-positive markers on their surface abnormal single positive T cell number MPheno.ontology MP:0008081 abnormal single-positive T cell number MP:0008081 anomaly in the number of T cells bearing either CD4-positive or CD8-positive markers on their surface https://orcid.org/0000-0003-3691-0324 greater number of T cells bearing either CD4 or CD8 markers on their surface increased single positive T cell number MPheno.ontology MP:0008082 increased single-positive T cell number MP:0008082 greater number of T cells bearing either CD4 or CD8 markers on their surface https://orcid.org/0000-0003-3691-0324 reduced number of T cells bearing either CD4 or CD8 markers on their surface decreased single positive T cell number reduced single positive T cell number MPheno.ontology MP:0008083 decreased single-positive T cell number MP:0008083 reduced number of T cells bearing either CD4 or CD8 markers on their surface https://orcid.org/0000-0003-3691-0324 absence of T cells bearing either CD4 or CD8 markers on their surface MP:0013276 absent single positive T cells MPheno.ontology MP:0008084 obsolete absent single-positive T cells true MP:0008084 absence of T cells bearing either CD4 or CD8 markers on their surface https://orcid.org/0000-0003-3691-0324 anomaly in the number of the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity T helper 1 cell number abnormalities TH1 cell number abnormalities Th1 cell number abnormalities abnormal T helper 1 cell number abnormal TH1 cell number abnormal helper T cell type 1 cell number abnormal helper T lymphocyte type 1 cell number abnormal helper T-cell type 1 cell number abnormal helper T-lymphocyte type 1 cell number MPheno.ontology MP:0008085 abnormal T-helper 1 cell number MP:0008085 anomaly in the number of the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity CL:0000545 ISBN:0781735149 greater number of the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity increased T helper 1 cell number increased TH1 cell number increased Th1 cell number increased helper T cell type 1 cell number increased helper T lymphocyte type 1 cell number increased helper T-cell type 1 cell number increased helper T-lymphocyte type 1 cell number MPheno.ontology MP:0008086 increased T-helper 1 cell number MP:0008086 greater number of the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity CL:0000545 ISBN:0781735149 reduced number of the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity decreased TH1 cell number decreased Th1 cell number decreased helper T cell type 1 cell number decreased helper T lymphocyte type 1 cell number decreased helper T-cell type 1 cell number decreased helper T-lymphocyte type 1 cell number reduced T helper 1 cell number reduced TH1 cell number reduced Th1 cell number reduced helper T cell type 1 cell number reduced helper T lymphocyte type 1 cell number reduced helper T-cell type 1 cell number reduced helper T-lymphocyte type 1 cell number MPheno.ontology MP:0008087 decreased T helper 1 cell number MP:0008087 reduced number of the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity https://orcid.org/0000-0003-3691-0324 atypical production of or inability to produce the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity abnormal T helper 1 cell differentiation abnormal TH1 cell differentiation abnormal Th1 cell differentiation abnormal helper T cell type 1 cell differentiation abnormal helper T lymphocyte type 1 cell differentiation abnormal helper T-cell type 1 cell differentiation abnormal helper T-lymphocyte type 1 cell differentiation MPheno.ontology MP:0008088 abnormal T-helper 1 cell differentiation MP:0008088 atypical production of or inability to produce the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity CL:0000545 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 anomaly in the number of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy T helper 2 cell number abnormalities TH2 cell number abnormalities Th2 cell number abnormalities abnormal T helper 2 cell number abnormal TH2 cell number abnormal helper T cell type 2 cell number abnormal helper T lymphocyte type 2 cell number abnormal helper T-cell type 2 cell number abnormal helper T-lymphocyte type 2 cell number MPheno.ontology MP:0008089 abnormal T-helper 2 cell number MP:0008089 anomaly in the number of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy CL:0000546 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 greater number of the subset of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy increased T helper 2 cell number increased TH2 cell number increased Th2 cell number increased helper T cell type 2 cell number increased helper T lymphocyte type 2 cell number increased helper T-cell type 2 cell number increased helper T-lymphocyte type 2 cell number MPheno.ontology MP:0008090 increased T-helper 2 cell number MP:0008090 greater number of the subset of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy CL:0000546 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 reduction in the number of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy decreased T helper 2 cell number decreased TH2 cell number decreased Th2 cell number decreased helper T cell type 2 cell number decreased helper T lymphocyte type 2 cell number decreased helper T-cell type 2 cell number decreased helper T-lymphocyte type 2 cell number reduced T helper 2 cell number reduced TH2 cell number reduced Th2 cell number reduced helper T cell type 2 cell number reduced helper T lymphocyte type 2 cell number reduced helper T-cell type 2 cell number reduced helper T-lymphocyte type 2 cell number MPheno.ontology MP:0008091 decreased T-helper 2 cell number MP:0008091 reduction in the number of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy CL:0000546 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 atypical production of or inability to produce the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy abnormal T helper 2 cell differentiation abnormal TH2 cell differentiation abnormal Th2 cell differentiation abnormal helper T cell type 2 cell differentiation abnormal helper T lymphocyte type 2 cell differentiation abnormal helper T-cell type 2 cell differentiation abnormal helper T-lymphocyte type 2 cell differentiation MPheno.ontology MP:0008092 abnormal T-helper 2 cell differentiation MP:0008092 atypical production of or inability to produce the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy CL:0000546 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 anomaly in the number of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin MPheno.ontology MP:0008093 abnormal memory B cell number MP:0008093 anomaly in the number of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin CL:0000787 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 absence of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin MPheno.ontology MP:0008094 absent memory B cells MP:0008094 absence of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin CL:0000787 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 atypical production of or inability to produce distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin MPheno.ontology MP:0008095 abnormal memory B cell differentiation MP:0008095 atypical production of or inability to produce distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin CL:0000787 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 anomaly in the number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin abnormal plasmacyte cell number MPheno.ontology MP:0008096 abnormal plasma cell number MP:0008096 anomaly in the number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin CL:0000786 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 greater number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin plasma cell hyperplasia MPheno.ontology MP:0008097 increased plasma cell number MP:0008097 greater number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin CL:0000786 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 reduced number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin reduced plasma cell number MPheno.ontology MP:0008098 decreased plasma cell number MP:0008098 reduced number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin CL:0000786 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 atypical production of or inability to produce terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin MPheno.ontology MP:0008099 abnormal plasma cell differentiation MP:0008099 atypical production of or inability to produce terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin CL:0000786 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 absence of the terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin absent plasmacyte MPheno.ontology MP:0008100 absent plasma cells MP:0008100 absence of the terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin CL:0000786 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the lymph nodes, typically resulting in decreased size decreased lymph node cellularity hypoplastic lymph nodes MPheno.ontology MP:0008101 lymph node hypoplasia MP:0008101 decrease in the number of normal cells in normal arrangement in the lymph nodes, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the lymph nodes, typically resulting in increased size hyperplastic lymph nodes increased lymph node cellularity MPheno.ontology MP:0008102 lymph node hyperplasia MP:0008102 increase in the number of normal cells in normal arrangement in the lymph nodes, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 a retrogressive impairment or destruction of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer amacrine neuron degeneration MPheno.ontology MP:0008103 amacrine cell degeneration MP:0008103 a retrogressive impairment or destruction of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer https://orcid.org/0000-0003-3691-0324 anomaly in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer abnormal amacrine neuron number MPheno.ontology MP:0008104 abnormal amacrine cell number MP:0008104 anomaly in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer https://orcid.org/0000-0003-3691-0324 increase in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina MPheno.ontology MP:0008105 increased amacrine cell number MP:0008105 increase in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina https://orcid.org/0000-0003-3691-0324 reduction in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina reduced amacrine cell number MPheno.ontology MP:0008106 decreased amacrine cell number MP:0008106 reduction in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina https://orcid.org/0000-0003-3691-0324 absence of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina absent horizontal cells absent retinal horizontal cells MPheno.ontology MP:0008107 absent retina horizontal cells MP:0008107 absence of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold abnormal small intestinal villi MPheno.ontology MP:0008108 abnormal small intestinal villus morphology MP:0008108 any structural anomaly of the tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold MGI:rbabiuk https://orcid.org/0000-0003-3691-0324 any structural anomaly of the additional extensions of the villi of the small intestine which protrude from the apical surface of the epithelial cells lining the villi; the microvilli increase the absorptive surface area of the small intestine by approximately 600-fold abnormal small intestinal microvilli MPheno.ontology MP:0008109 abnormal small intestinal microvillus morphology MP:0008109 any structural anomaly of the additional extensions of the villi of the small intestine which protrude from the apical surface of the epithelial cells lining the villi; the microvilli increase the absorptive surface area of the small intestine by approximately 600-fold MGI:rbabiuk https://orcid.org/0000-0003-3691-0324 true MP:0008110 atypical production of or inability to produce leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils abnormal granulopoiesis MPheno.ontology MP:0008111 abnormal granulocyte differentiation MP:0008111 atypical production of or inability to produce leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils https://orcid.org/0000-0003-3691-0324 atypical production of or inability to produce the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood MPheno.ontology MP:0008112 abnormal monocyte differentiation MP:0008112 atypical production of or inability to produce the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood CL:0000576 https://orcid.org/0000-0003-3691-0324 atypical production of or inability to produce the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells MPheno.ontology MP:0008113 abnormal macrophage differentiation MP:0008113 atypical production of or inability to produce the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells CL:0000235 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the phagocytic macrophages residing on the luminal surface of the hepatic sinusoids abnormal Kupffer's cell MPheno.ontology MP:0008114 abnormal Kupffer cell morphology MP:0008114 any structural anomaly of the phagocytic macrophages residing on the luminal surface of the hepatic sinusoids ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 atypical production of or inability to produce a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation MP:0008116 abnormal dendritic cell maturation MPheno.ontology MP:0008115 abnormal dendritic cell differentiation MP:0008115 atypical production of or inability to produce a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 true MP:0008116 any structural anomaly of a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus MPheno.ontology MP:0008117 abnormal Langerhans cell morphology MP:0008117 any structural anomaly of a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus CL:0000453 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 absence of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus MPheno.ontology MP:0008118 absent Langerhans cell MP:0008118 absence of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 reduction in the number of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus decreased number of Langerhans cells reduced Langerhans cell number reduced number of Langerhans cells MPheno.ontology MP:0008119 decreased Langerhans cell number MP:0008119 reduction in the number of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 anomaly in the number of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses MPheno.ontology MP:0008120 abnormal myeloid dendritic cell number MP:0008120 anomaly in the number of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses PMID:10449155 PMID:9521319 https://orcid.org/0000-0003-3691-0324 greater number of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses MPheno.ontology MP:0008121 increased myeloid dendritic cell number MP:0008121 greater number of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses PMID:10449155 PMID:9521319 reduction in the number of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses reduced myeloid dendritic cell number MPheno.ontology MP:0008122 decreased myeloid dendritic cell number MP:0008122 reduction in the number of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses PMID:10449155 PMID:9521319 anomaly in the number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli abnormal DC2 cell number abnormal PDC cell number abnormal T-associated plasma cells cell number abnormal lymphoid dendritic cell number abnormal pDC cell number abnormal plasmacytoid T cell number abnormal plasmacytoid monocytes cell number MPheno.ontology MP:0008123 abnormal plasmacytoid dendritic cell number MP:0008123 anomaly in the number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli PMID:15596797 https://orcid.org/0000-0003-3691-0324 reduced number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli decreased DC2 cell number decreased PDC cell number decreased T-associated plasma cells cell number decreased lymphoid dendritic cell number decreased pDC cell number decreased plasmacytoid T cell number decreased plasmacytoid monocytes cell number reduced DC2 cell number reduced PDC cell number reduced T-associated plasma cells cell number reduced lymphoid dendritic cell number reduced pDC cell number reduced plasmacytoid T cell number reduced plasmacytoid dendritic cell number reduced plasmacytoid monocytes cell number MPheno.ontology MP:0008124 decreased plasmacytoid dendritic cell number MP:0008124 reduced number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli PMID:15596797 https://orcid.org/0000-0003-3691-0324 anomaly in the number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation MPheno.ontology MP:0008125 abnormal dendritic cell number MP:0008125 anomaly in the number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 greater number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation MPheno.ontology MP:0008126 increased dendritic cell number MP:0008126 greater number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 reduction in the number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation reduced dendritic cell number MPheno.ontology MP:0008127 decreased dendritic cell number MP:0008127 reduction in the number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord abnormal internal capsule of telencephalon morphology MPheno.ontology MP:0008128 This structure is NOT part of the basal ganglia or striatum. abnormal brain internal capsule morphology MP:0008128 any structural anomaly of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 abnormal internal capsule of telencephalon morphology UBERON:0001887 absence of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord absent internal capsule of telencephalon MPheno.ontology MP:0008129 absent brain internal capsule MP:0008129 absence of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults Pars intermedia intermediate part of adenohypophysis MPheno.ontology MP:0008130 abnormal pituitary intermediate lobe morphology MP:0008130 any structural anomaly of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults https://orcid.org/0000-0003-3691-0324 anomaly in the number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles abnormal number of Peyer's patches MPheno.ontology MP:0008131 abnormal Peyer's patch number MP:0008131 anomaly in the number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles PMID:15841100 greater number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles increased number of Peyer's patches MPheno.ontology MP:0008132 increased Peyer's patch number MP:0008132 greater number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles PMID:15841100 reduction in the number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles decreased number of Peyer's patches reduced Peyer's patch number MPheno.ontology MP:0008133 decreased Peyer's patch number MP:0008133 reduction in the number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles PMID:15841100 anomaly in the size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles MPheno.ontology MP:0008134 abnormal Peyer's patch size MP:0008134 anomaly in the size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles PMID:15841100 reduced size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles decreased Peyer's patch size reduced Peyer's patch size MPheno.ontology MP:0008135 small Peyer's patches MP:0008135 reduced size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles PMID:15841100 increased size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles increased Peyer's patch size MPheno.ontology MP:0008136 enlarged Peyer's patches MP:0008136 increased size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles PMID:15841100 absence of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane MPheno.ontology MP:0008137 absent podocytes MP:0008137 absence of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane ISBN:0-683-40008-8 absence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries MPheno.ontology MP:0008138 absent podocyte foot process MP:0008138 absence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries ISBN:0-683-40008-8 coalescence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries fusion of podocyte foot processes podocyte foot processes fusion MPheno.ontology MP:0008139 fused podocyte foot processes MP:0008139 coalescence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries ISBN:0-683-40008-8 a podocyte reaction to injury or damage characterized by flattening of foot processes due to gradual simplification of the interdigitating foot process; the whole podocyte looks flat due to retraction, widening, and shortening of the processes of each podocyte while the frequency of filtration slits is reduced, giving the appearance of a continuous cytoplasmic sheet covering the glomerular basement membrane MPheno.ontology MP:0008140 podocyte foot process effacement MP:0008140 a podocyte reaction to injury or damage characterized by flattening of foot processes due to gradual simplification of the interdigitating foot process; the whole podocyte looks flat due to retraction, widening, and shortening of the processes of each podocyte while the frequency of filtration slits is reduced, giving the appearance of a continuous cytoplasmic sheet covering the glomerular basement membrane https://orcid.org/0000-0002-6490-7723 reduced size of the additional extensions of the villi of the small intestine which protrude from the apical surface of the epithelial cells lining the villi; the microvilli increase the absorptive surface area of the small intestine by approximately 600-fold reduced small intestinal microvillus size MPheno.ontology MP:0008141 decreased small intestinal microvillus size MP:0008141 reduced size of the additional extensions of the villi of the small intestine which protrude from the apical surface of the epithelial cells lining the villi; the microvilli increase the absorptive surface area of the small intestine by approximately 600-fold MGI:rbabiuk https://orcid.org/0000-0003-3691-0324 reduced size of the tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold reduced small intestinal villus size MPheno.ontology MP:0008142 decreased small intestinal villus size MP:0008142 reduced size of the tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold MGI:rbabiuk https://orcid.org/0000-0003-3691-0324 any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body abnormal dendritic arbor abnormal dendritic tree MPheno.ontology MP:0008143 abnormal dendrite morphology MP:0008143 any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body MGI:rbabiuk https://orcid.org/0000-0003-3691-0324 decreased ability to see clearly in reduced illumination; often due to a deficiency of vitamin A or to a retinal disorder MP:0006146 night blindness nocturnal amblyopia nyctanopia MPheno.ontology MP:0008144 nyctalopia MP:0008144 decreased ability to see clearly in reduced illumination; often due to a deficiency of vitamin A or to a retinal disorder ISBN:0-683-40008-8 NCBI:matt reduced ability to see clearly in bright light with night vision remaining unchanged; often due to impaired retinal cone function day blindness hemeranopia MPheno.ontology MP:0008145 hemeralopia MP:0008145 reduced ability to see clearly in bright light with night vision remaining unchanged; often due to impaired retinal cone function ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 loss of bilateral symmetry in rib attachments to the sternum asymmetric rib-sternum attachment MPheno.ontology MP:0008146 asymmetric sternocostal joints MP:0008146 loss of bilateral symmetry in rib attachments to the sternum https://orcid.org/0000-0003-3691-0324 loss of bilateral symmetry in rib attachments to the vertebral column asymmetric rib-vertebral column attachment MPheno.ontology MP:0008147 asymmetric costovertebral joints MP:0008147 loss of bilateral symmetry in rib attachments to the vertebral column https://orcid.org/0000-0003-3691-0324 any anomaly in the normal joining of the ribs to the sternum abnormal rib-sternum attachment MPheno.ontology MP:0008148 abnormal sternocostal joint morphology MP:0008148 any anomaly in the normal joining of the ribs to the sternum https://orcid.org/0000-0003-3691-0324 any anomaly in the normal joining of the ribs to the vertebral column, these connections are made by costovertebral ligaments between the head of the rib and the body of the thoracic vertebra abnormal costovertebral articulation abnormal rib-vertebral column attachment MPheno.ontology MP:0008149 abnormal costovertebral joint morphology MP:0008149 any anomaly in the normal joining of the ribs to the vertebral column, these connections are made by costovertebral ligaments between the head of the rib and the body of the thoracic vertebra UBERON:0002292 http://www.scientificspine.com/spinal-anatomy/thoracic-spine-anatomy.html https://orcid.org/0000-0003-3691-0324 reduced width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge decreased periosteal diameter of long bones reduced diameter of long bones reduced periosteal diameter of long bones thin long bones MPheno.ontology MP:0008150 decreased diameter of long bones MP:0008150 reduced width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge https://orcid.org/0000-0003-3691-0324 increased width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge increased periosteal diameter of long bones thick long bones MPheno.ontology MP:0008151 increased diameter of long bones MP:0008151 increased width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge https://orcid.org/0000-0003-3691-0324 reduced width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge decreased outer diameter of femur decreased periosteal diameter of femur reduced diameter of femur reduced outer diameter of femur reduced periosteal diameter of femur thin femur MPheno.ontology MP:0008152 decreased diameter of femur MP:0008152 reduced width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge https://orcid.org/0000-0003-3691-0324 reduced width of the cross-sectional distance that extends from one lateral edge of the fibula, through its center and to the opposite lateral edge decreased outer diameter of fibula decreased periosteal diameter of fibula reduced diameter of fibula reduced outer diameter of fibula reduced periosteal diameter of fibula thin fibula MPheno.ontology MP:0008153 decreased diameter of fibula MP:0008153 reduced width of the cross-sectional distance that extends from one lateral edge of the fibula, through its center and to the opposite lateral edge https://orcid.org/0000-0003-3691-0324 reduced width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge decreased outer diameter of humerus decreased periosteal diameter of humerus reduced diameter of humerus reduced outer diameter of humerus reduced periosteal diameter of humerus thin humerus MPheno.ontology MP:0008154 decreased diameter of humerus MP:0008154 reduced width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge https://orcid.org/0000-0003-3691-0324 reduced width of the cross-sectional distance that extends from one lateral edge of the radius, through its center and to the opposite lateral edge decreased outer diameter of radius decreased periosteal diameter of radius reduced diameter of radius reduced outer diameter of radius reduced periosteal diameter of radius thin radius MPheno.ontology MP:0008155 decreased diameter of radius MP:0008155 reduced width of the cross-sectional distance that extends from one lateral edge of the radius, through its center and to the opposite lateral edge https://orcid.org/0000-0003-3691-0324 reduced width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge decreased outer diameter of tibia decreased periosteal diameter of tibia reduced diameter of tibia reduced outer diameter of tibia reduced periosteal diameter of tibia thin tibia MPheno.ontology MP:0008156 decreased diameter of tibia MP:0008156 reduced width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge https://orcid.org/0000-0003-3691-0324 reduced width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge decreased outer diameter of ulna decreased periosteal diameter of ulna reduced diameter of ulna reduced outer diameter of ulna reduced periosteal diameter of ulna thin ulna MPheno.ontology MP:0008157 decreased diameter of ulna MP:0008157 reduced width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge https://orcid.org/0000-0003-3691-0324 increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge increased outer diameter of femur increased periosteal diameter of femur thick femur MPheno.ontology MP:0008158 increased diameter of femur MP:0008158 increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge https://orcid.org/0000-0003-3691-0324 increased width of the cross-sectional distance that extends from one lateral edge of the fibula, through its center and to the opposite lateral edge increased outer diameter of fibula increased periosteal diameter of fibula thick fibula MPheno.ontology MP:0008159 increased diameter of fibula MP:0008159 increased width of the cross-sectional distance that extends from one lateral edge of the fibula, through its center and to the opposite lateral edge https://orcid.org/0000-0003-3691-0324 increased width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge increased outer diameter of humerus increased periosteal diameter of humerus thick humerus MPheno.ontology MP:0008160 increased diameter of humerus MP:0008160 increased width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge https://orcid.org/0000-0003-3691-0324 increased width of the cross-sectional distance that extends from one lateral edge of the radius, through its center and to the opposite lateral edge increased outer diameter of radius increased periosteal diameter of radius thick radius MPheno.ontology MP:0008161 increased diameter of radius MP:0008161 increased width of the cross-sectional distance that extends from one lateral edge of the radius, through its center and to the opposite lateral edge https://orcid.org/0000-0003-3691-0324 increased width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge increased outer diameter of tibia increased periosteal diameter of tibia thick tibia MPheno.ontology MP:0008162 increased diameter of tibia MP:0008162 increased width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge https://orcid.org/0000-0003-3691-0324 increased width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge increased outer diameter of ulna increased periosteal diameter of ulna thick ulna MPheno.ontology MP:0008163 increased diameter of ulna MP:0008163 increased width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge https://orcid.org/0000-0003-3691-0324 any structural anomaly of the B-1 B cell subset bearing the CD5 surface marker abnormal B-1a B lymphocyte morphology abnormal B-1a B-cell morphology abnormal B-1a B-lymphocyte morphology abnormal B1a cell MPheno.ontology MP:0008164 abnormal B-1a B cell morphology MP:0008164 any structural anomaly of the B-1 B cell subset bearing the CD5 surface marker CL:0000820 PMID:11861604 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell abnormal B-1b B lymphocyte morphology abnormal B-1b B-cell morphology abnormal B-1b B-lymphocyte morphology abnormal B1b cell MPheno.ontology MP:0008165 abnormal B-1b B cell morphology MP:0008165 any structural anomaly of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell CL:0000821 PMID:11861604 https://orcid.org/0000-0003-3691-0324 any structural anomaly of a conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells abnormal B-2 B lymphocyte morphology abnormal B-2 B-cell morphology abnormal B-2 B-lymphocyte morphology abnormal B2 cell morphology MPheno.ontology MP:0008166 abnormal B-2 B cell morphology MP:0008166 any structural anomaly of a conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells CL:0000822 PMID:11861604 https://orcid.org/0000-0003-3691-0324 greater number of the B-1 B cell subset bearing the CD5 surface marker increased number of B-1a cells MPheno.ontology MP:0008167 increased B-1a cell number MP:0008167 greater number of the B-1 B cell subset bearing the CD5 surface marker CL:0000820 PMID:11861604 reduced number of the B-1 B cell subset bearing the CD5 surface marker decreased number of B-1a cells reduced B-1a cell number MPheno.ontology MP:0008168 decreased B-1a cell number MP:0008168 reduced number of the B-1 B cell subset bearing the CD5 surface marker CL:0000820 PMID:11861604 greater number of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell increased number of B-1b cells MPheno.ontology MP:0008169 increased B-1b cell number MP:0008169 greater number of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell CL:0000821 PMID:11861604 reduced number of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell decreased number of B-1b cells reduced B-1b cell number MPheno.ontology MP:0008170 decreased B-1b cell number MP:0008170 reduced number of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell CL:0000821 PMID:11861604 any structural anomaly of the mature form of a B cell, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex abnormal mature B lymphocyte morphology abnormal mature B-cell morphology abnormal mature B-lymphocyte morphology MPheno.ontology MP:0008171 abnormal mature B cell morphology MP:0008171 any structural anomaly of the mature form of a B cell, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex CL:0000785 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 any structural anomaly of a resting mature B cell with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes abnormal FOB cell MPheno.ontology MP:0008172 abnormal follicular B cell morphology MP:0008172 any structural anomaly of a resting mature B cell with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes CL:0000843 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 greater number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes MPheno.ontology MP:0008173 increased follicular B cell number MP:0008173 greater number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes CL:0000843 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 reduced number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes reduced follicular B cell number MPheno.ontology MP:0008174 decreased follicular B cell number MP:0008174 reduced number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes CL:0000843 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 absence of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes absent FOB cell MPheno.ontology MP:0008175 absent follicular B cells MP:0008175 absence of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes CL:0000843 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 any structural anomaly of a rapidly cycling mature B cell which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen abnormal germinal centre B cell morphology MPheno.ontology MP:0008176 abnormal germinal center B cell morphology MP:0008176 any structural anomaly of a rapidly cycling mature B cell which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen CL:0000844 GO:0002314 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 greater number of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen increased germinal centre B cell number MPheno.ontology MP:0008177 increased germinal center B cell number MP:0008177 greater number of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen CL:0000844 GO:0002314 ISBN:0781735149 reduced number of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen decreased germinal centre B cell number reduced germinal center B cell number reduced germinal centre B cell number MPheno.ontology MP:0008178 decreased germinal center B cell number MP:0008178 reduced number of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen CL:0000844 GO:0002314 ISBN:0781735149 absence of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen absent germinal centre B cells MPheno.ontology MP:0008179 absent germinal center B cells MP:0008179 absence of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen CL:0000844 GO:0002314 ISBN:0781735149 any structural anomaly of a CD23-negative, CD21-positive B cell of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL abnormal MZB cell MPheno.ontology MP:0008180 abnormal marginal zone B cell morphology MP:0008180 any structural anomaly of a CD23-negative, CD21-positive B cell of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL CL:0000845 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 greater number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL MPheno.ontology MP:0008181 increased marginal zone B cell number MP:0008181 greater number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL CL:0000845 ISBN:0781735149 reduced number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL reduced marginal zone B cell number MPheno.ontology MP:0008182 decreased marginal zone B cell number MP:0008182 reduced number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL CL:0000845 ISBN:0781735149 absence of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL absent MZB cell MPheno.ontology MP:0008183 absent marginal zone B cells MP:0008183 absence of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL CL:0000845 ISBN:0781735149 any structural anomaly of a mature B cell which has not yet been activated by antigen abnormal naive B lymphocyte morphology MPheno.ontology MP:0008184 abnormal naive B cell morphology MP:0008184 any structural anomaly of a mature B cell which has not yet been activated by antigen CL:0000788 https://orcid.org/0000-0003-3691-0324 reduced number of mature B cells which have not yet been activated by antigen decreased number of naive B cells reduced naive B cell number MPheno.ontology MP:0008185 decreased naive B cell number MP:0008185 reduced number of mature B cells which have not yet been activated by antigen CL:0000788 https://orcid.org/0000-0003-3691-0324 greater number of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs increased number of pro-B cells MPheno.ontology MP:0008186 increased pro-B cell number MP:0008186 greater number of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs CL:0000826 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 absence of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs MPheno.ontology MP:0008187 absent pro-B cells MP:0008187 absence of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs CL:0000826 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 any structural anomaly of an immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection abnormal transitional B cell abnormal transitional stage B lymphocyte abnormal transitional stage B-cell MPheno.ontology MP:0008188 abnormal transitional stage B cell morphology MP:0008188 any structural anomaly of an immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection CL:0000818 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 greater number of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection increased transitional B cell number increased transitional stage B lymphocyte number increased transitional stage B-cell number MPheno.ontology MP:0008189 increased transitional stage B cell number MP:0008189 greater number of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection CL:0000818 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 reduced number of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection decreased transitional B cell number decreased transitional stage B lymphocyte number decreased transitional stage B-cell number MPheno.ontology MP:0008190 decreased transitional stage B cell number MP:0008190 reduced number of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection CL:0000818 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 abnormal function of a resting mature B cell with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen MPheno.ontology MP:0008191 abnormal follicular B cell physiology MP:0008191 abnormal function of a resting mature B cell with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen CL:0000843 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 abnormal function of a rapidly cycling mature B cell which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes abnormal germinal centre B cell physiology MPheno.ontology MP:0008192 abnormal germinal center B cell physiology MP:0008192 abnormal function of a rapidly cycling mature B cell which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes CL:0000844 GO:0002314 ISBN:0781735149 abnormal function of a CD23-negative, CD21-positive B cell of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL MPheno.ontology MP:0008193 abnormal marginal zone B cell physiology MP:0008193 abnormal function of a CD23-negative, CD21-positive B cell of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL CL:0000845 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 abnormal function of a distinctly differentiated long-lived B cell that is readily activated upon reencounter of its antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin MPheno.ontology MP:0008194 abnormal memory B cell physiology MP:0008194 abnormal function of a distinctly differentiated long-lived B cell that is readily activated upon reencounter of its antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin CL:0000787 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 any structural anomaly of a cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response MPheno.ontology abnormal antigen presenting cell morphology MP:0008195 abnormal professional antigen presenting cell morphology MP:0008195 any structural anomaly of a cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response CL:0000145 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 any structural anomaly of a cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response MPheno.ontology MP:0008196 Follicular dendritic cells are a distinct population from other dendritic cells associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response. They are not derived from the hematopoietic lineage. Due to its unique lineage and distinct function (B cell vs. T cell presentation), this is NOT a type of dendritic cell. abnormal follicular dendritic cell morphology MP:0008196 any structural anomaly of a cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response CL:0000442 MESH:A10.549.250.200 https://orcid.org/0000-0003-3691-0324 abnormal function of a cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response MPheno.ontology MP:0008197 Annotations to this cell type have been erroneously made to dendritic cell morphology. These are unrelated to the dendritic cell associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response. They are not derived from the hematopoietic lineage. Due to its unique lineage and distinct function (B cell vs. T cell presentation), this is NOT a type of dendritic cell. abnormal follicular dendritic cell physiology MP:0008197 abnormal function of a cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response CL:0000442 MESH:A10.549.250.200 https://orcid.org/0000-0003-3691-0324 anomaly in the ability of follicular dendritic cells to process and present antigen to B lymphocytes MPheno.ontology MP:0008198 abnormal follicular dendritic cell antigen presentation MP:0008198 anomaly in the ability of follicular dendritic cells to process and present antigen to B lymphocytes https://orcid.org/0000-0003-3691-0324 greater number of cells with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response increased number of follicular dendritic cells MPheno.ontology MP:0008199 increased follicular dendritic cell number MP:0008199 greater number of cells with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response CL:0000442 MESH:A10.549.250.200 reduced number of cells with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response decreased number of follicular dendritic cells reduced follicular dendritic cell number MPheno.ontology MP:0008200 decreased follicular dendritic cell number MP:0008200 reduced number of cells with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response CL:0000442 MESH:A10.549.250.200 absence of cells with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response MPheno.ontology MP:0008201 absent follicular dendritic cells MP:0008201 absence of cells with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response CL:0000442 MESH:A10.549.250.200 https://orcid.org/0000-0003-3691-0324 absence of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and are enriched for self-reactivity; B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas MPheno.ontology MP:0008202 absent B-1 B cells MP:0008202 absence of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and are enriched for self-reactivity; B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas CL:0000819 PMID:11861604 https://orcid.org/0000-0003-3691-0324 absence of the B-1 B cell subset bearing the CD5 surface marker MPheno.ontology MP:0008203 absent B-1a cells MP:0008203 absence of the B-1 B cell subset bearing the CD5 surface marker CL:0000820 PMID:11861604 absence of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell MPheno.ontology MP:0008204 absent B-1b cells MP:0008204 absence of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell CL:0000821 PMID:11861604 https://orcid.org/0000-0003-3691-0324 absence of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells absent B-2 B lymphocytes absent B-2 B-cells absent B-2 B-lymphocytes absent B2 cells MPheno.ontology MP:0008205 absent B-2 B cells MP:0008205 absence of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells CL:0000822 PMID:11861604 https://orcid.org/0000-0003-3691-0324 greater number of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells increased number of B-2 cells MPheno.ontology MP:0008206 increased B-2 B cell number MP:0008206 greater number of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells CL:0000822 PMID:11861604 https://orcid.org/0000-0003-3691-0324 reduced number of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells decreased number of B-2 cells reduced B-2 cell number MPheno.ontology MP:0008207 decreased B-2 B cell number MP:0008207 reduced number of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells CL:0000822 PMID:11861604 https://orcid.org/0000-0003-3691-0324 reduced number of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs decreased number of pro-B cells decreased pro-B lymphocyte cell number reduced pro-B cell number MPheno.ontology MP:0008208 decreased pro-B cell number MP:0008208 reduced number of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs CL:0000826 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 reduced number of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface decreased number of pre-B cells decreased pre-B lymphocyte cell number reduced pre-B cell number MPheno.ontology MP:0008209 decreased pre-B cell number MP:0008209 reduced number of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface ISBN:0-8153-1691-7 MGI:cwg greater number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex increased number of mature B cells increased number of mature B lymphocytes increased number of mature B-cells increased number of mature B-lymphocytes MPheno.ontology MP:0008210 increased mature B cell number MP:0008210 greater number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex CL:0000785 ISBN:0781735149 reduced number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex decreased number of mature B cells decreased number of mature B lymphocytes decreased number of mature B-cells decreased number of mature B-lymphocytes reduced mature B cell number MPheno.ontology MP:0008211 decreased mature B cell number MP:0008211 reduced number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex CL:0000785 ISBN:0781735149 absence of the mature form of a B cell, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex absent mature B lymphocyte absent mature B-cell absent mature B-lymphocyte MPheno.ontology MP:0008212 absent mature B cells MP:0008212 absence of the mature form of a B cell, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex CL:0000785 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 absence of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity absent immature B lymphocyte absent immature B-cell absent immature B-lymphocyte MPheno.ontology MP:0008213 absent immature B cells MP:0008213 absence of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity ISBN:0-8153-1691-7 MGI:cwg greater number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity increased number of immature B cells increased number of immature B lymphocytes increased number of immature B-cells increased number of immature B-lymphocytes MPheno.ontology MP:0008214 increased immature B cell number MP:0008214 greater number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity ISBN:0-8153-1691-7 MGI:cwg reduced number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity decreased number of immature B cells decreased number of immature B lymphocytes decreased number of immature B-cells decreased number of immature B-lymphocytes reduced immature B cell number MPheno.ontology MP:0008215 decreased immature B cell number MP:0008215 reduced number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity ISBN:0-8153-1691-7 MGI:cwg absence of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection absent transitional stage B lymphocyte absent transitional stage B-cell absent transitional stage B-lymphocyte absent T1 B cell absent T2 B cell absent T3 B cell MPheno.ontology MP:0008216 absent transitional stage B cells MP:0008216 absence of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection CL:0000818 ISBN:0781735149 any anomaly in the normal change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific MPheno.ontology MP:0008217 abnormal B cell activation MP:0008217 any anomaly in the normal change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific GO:0002312 https://orcid.org/0000-0003-3691-0324 eruption of the vibrissae from the skin later than expected delayed emergence of sinus hairs MPheno.ontology MP:0008218 In mouse, the vibrissae emerge at approximately embryonic day E17-18. delayed emergence of vibrissae MP:0008218 eruption of the vibrissae from the skin later than expected MGI:brs any structural anomaly of the fiber tracts that connect the dorsal region of the two cerebral hemispheres and span the longitudinal fissure, including the corpus callosum and hippocampal commissure abnormal dorsal commissure MPheno.ontology MP:0008219 abnormal dorsal telencephalic commissure morphology MP:0008219 any structural anomaly of the fiber tracts that connect the dorsal region of the two cerebral hemispheres and span the longitudinal fissure, including the corpus callosum and hippocampal commissure PMID:16715082 any structural anomaly of the fiber tracts that connect the ventral region of the two cerebral hemispheres and span the longitudinal fissure, including the anterior and the habenular commissures MPheno.ontology MP:0008220 abnormal ventral commissure morphology MP:0008220 any structural anomaly of the fiber tracts that connect the ventral region of the two cerebral hemispheres and span the longitudinal fissure, including the anterior and the habenular commissures PMID:16715082 any structural anomaly of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side abnormal commissure fornicis abnormal commissure hippocampi abnormal commissure of fornix abnormal delta fornicis abnormal hippocampus commissure abnormal ventral hippocampal commissure abnormal vhc MPheno.ontology MP:0008221 abnormal hippocampal commissure morphology MP:0008221 any structural anomaly of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side ISBN:0-683-40008-8 reduced size of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side decreased size of hippocampal commissure reduced size of commissure fornicis reduced size of commissure hippocampi reduced size of commissure of fornix reduced size of delta fornicis reduced size of hippocampus commissure reduced size of ventral hippocampal commissure reduced size of vhc MPheno.ontology MP:0008222 decreased hippocampal commissure size MP:0008222 reduced size of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side ISBN:0-683-40008-8 absence of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side absent commissure fornicis absent commissure hippocampi absent commissure of fornix absent delta fornicis absent hippocampus commissure absent ventral hippocampal commissure absent vhc MPheno.ontology MP:0008223 absent hippocampal commissure MP:0008223 absence of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side ISBN:0-683-40008-8 enlarged triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side enlarged hippocampal commissure increased size of commissure fornicis increased size of commissure hippocampi increased size of commissure of fornix increased size of delta fornicis increased size of hippocampal commissure increased size of hippocampus commissure increased size of ventral hippocampal commissure increased size of vhc MPheno.ontology MP:0008224 increased hippocampal commissure size MP:0008224 enlarged triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side ISBN:0-683-40008-8 any structural anomaly of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle abnormal Ac abnormal commissura anterior abnormal commissure anterior MPheno.ontology MP:0008225 abnormal anterior commissure morphology MP:0008225 any structural anomaly of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle ISBN:0-683-40008-8 reduced size of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle decreased size of anterior commissure reduced size of Ac reduced size of anterior commissure reduced size of commissura anterior reduced size of commissure anterior MPheno.ontology MP:0008226 decreased anterior commissure size MP:0008226 reduced size of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle ISBN:0-683-40008-8 absence of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle absent Ac absent commissura anterior absent commissure anterior MPheno.ontology MP:0008227 absent anterior commissure MP:0008227 absence of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle ISBN:0-683-40008-8 enlarged round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle enlarged anterior commissure increased size of Ac increased size of anterior commissure increased size of commissura anterior increased size of commissure anterior MPheno.ontology MP:0008228 increased anterior commissure size MP:0008228 enlarged round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle ISBN:0-683-40008-8 OBSOLETE. any structural anomaly of the horseshoe-shaped tract that connects the two olfactory bulbs MP:0010860 MPheno.ontology MP:0008229 obsolete abnormal pars posterior morphology true MP:0008229 OBSOLETE. any structural anomaly of the horseshoe-shaped tract that connects the two olfactory bulbs PMID:8689685 OBSOLETE. any structural anomaly of the major forebrain commissure that connects the two temporal lobes of the cortex MP:0010859 MPheno.ontology MP:0008230 obsolete abnormal pars anterior morphology true MP:0008230 OBSOLETE. any structural anomaly of the major forebrain commissure that connects the two temporal lobes of the cortex PMID:8689685 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the connection between the right and left habenular nuclei; the decussation of fibers of the two striae medullares, forming the dorsal portion of the peduncle of the pineal body abnormal commissure habenularum MPheno.ontology MP:0008231 abnormal habenular commissure morphology MP:0008231 any structural anomaly of the connection between the right and left habenular nuclei; the decussation of fibers of the two striae medullares, forming the dorsal portion of the peduncle of the pineal body ISBN:0-683-40008-8 any structural anomaly of the white matter fiber bundle that projects from the cingulate gyrus to the entorhinal cortex in the brain MPheno.ontology MP:0008232 abnormal cingulum morphology MP:0008232 any structural anomaly of the white matter fiber bundle that projects from the cingulate gyrus to the entorhinal cortex in the brain https://orcid.org/0000-0003-3691-0324 atypical production of or inability to produce the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs MPheno.ontology MP:0008233 abnormal pro-B cell differentiation MP:0008233 atypical production of or inability to produce the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs CL:0000826 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 absence of the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens absent splenic marginal zone MPheno.ontology MP:0008234 absent spleen marginal zone MP:0008234 absence of the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens ISBN:0-683-40008-8 greater than normal amount of neuronal cell death following exposure to a neurotoxic compound, such as kainate-induced neuronal cell death mediated via a glutamate excitotoxic process decreased resistance to neuronal excitotoxicity increased susceptibility to neurotoxicity-induced cell death MPheno.ontology MP:0008235 increased susceptibility to neuronal excitotoxicity MP:0008235 greater than normal amount of neuronal cell death following exposure to a neurotoxic compound, such as kainate-induced neuronal cell death mediated via a glutamate excitotoxic process https://orcid.org/0000-0003-3691-0324 less than normal amount of neuronal cell death following exposure to a neurotoxic compound, such as kainate-induced neuronal cell death mediated via a glutamate excitotoxic process decreased susceptibility to neurotoxicity-induced cell death increased resistance to neuronal excitotoxicity reduced susceptibility to neuronal excitotoxicity MPheno.ontology MP:0008236 decreased susceptibility to neuronal excitotoxicity MP:0008236 less than normal amount of neuronal cell death following exposure to a neurotoxic compound, such as kainate-induced neuronal cell death mediated via a glutamate excitotoxic process https://orcid.org/0000-0003-3691-0324 irregular or unusual pigmentation of ventrum hair in relation to control animals MPheno.ontology MP:0008237 abnormal ventral coat pigmentation MP:0008237 irregular or unusual pigmentation of ventrum hair in relation to control animals MGI:llw2 irregular or unusual pigmentation pattern of the dorsal-to-ventral axis compared to control animals MPheno.ontology MP:0008238 abnormal dorsoventral coat patterning MP:0008238 irregular or unusual pigmentation pattern of the dorsal-to-ventral axis compared to control animals MGI:llw2 OBSOLETE. a range of wild-type and mutant allele coat coloration, from mouse to mouse or coat color mosaicism of an individual mouse, due to differential methylation of the mutation causing element MPheno.ontology MP:0008239 obsolete epigenetic coat coloration true MP:0008239 OBSOLETE. a range of wild-type and mutant allele coat coloration, from mouse to mouse or coat color mosaicism of an individual mouse, due to differential methylation of the mutation causing element MGI:llw2 any structural anomaly of the cells present in the splenic marginal zone and are involved in the recognition and clearance of material, such as pathogen-derived material, from the splenic circulation abnormal ER-TR9 positive cells abnormal splenic marginal zone macrophage morphology MPheno.ontology MP:0008240 Spleen marginal zone macrophage cells express the cell surface protein CD209b (also called Signr1), which is often detected with the ER-TR9 antibody. abnormal spleen marginal zone macrophage morphology MP:0008240 any structural anomaly of the cells present in the splenic marginal zone and are involved in the recognition and clearance of material, such as pathogen-derived material, from the splenic circulation PMID:16322748 any structural anomaly of the macrophage cells that surround the white pulp of the spleen, adjacent to the marginal sinus abnormal MOMA-1 positive cells abnormal marginal metallophilic macrophage abnormal splenic marginal metallophilic macrophages abnormal splenic metallophilic macrophage morphology MPheno.ontology MP:0008241 Metallophilic macrophage cells express the cell surface protein Siglec1 (also called CD169 or sialoadhesin), which is often detected with the MOMA-1 antibody. abnormal metallophilic macrophage morphology MP:0008241 any structural anomaly of the macrophage cells that surround the white pulp of the spleen, adjacent to the marginal sinus PMID:16322748 any structural anomaly of macrophages that line the small blood vessels MPheno.ontology MP:0008242 abnormal perivascular macrophage morphology MP:0008242 any structural anomaly of macrophages that line the small blood vessels PMID:16322748 any structural anomaly of a type of macrophage containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions CL:0000517 MPheno.ontology MP:0008243 abnormal macrophage derived foam cell morphology MP:0008243 any structural anomaly of a type of macrophage containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions CL:0000517 any structural anomaly of a mononuclear phagocyte that develops from bone marrow precursors but is resident in the peritoneum abnormal PCM morphology abnormal peritoneal cavity macrophage morphology MPheno.ontology MP:0008244 abnormal peritoneal macrophage morphology MP:0008244 any structural anomaly of a mononuclear phagocyte that develops from bone marrow precursors but is resident in the peritoneum CL:0000581 MESH:A.11.329.372.630 any structural anomaly of the round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells MPheno.ontology MP:0008245 abnormal alveolar macrophage morphology MP:0008245 any structural anomaly of the round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells CL:0000583 MESH:A.11.329.372.600 any structural anomaly of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue leucocyte abnormalities leukocyte abnormalities white blood cell abnormalities abnormal WBC morphology abnormal leucocyte morphology MPheno.ontology MP:0008246 abnormal leukocyte morphology MP:0008246 any structural anomaly of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue CL:0000738 MESH:A11.118.637 any structural anomaly of a leukocyte with a single non-segmented nucleus in the mature form abnormal mononuclear leucocyte morphology abnormal mononuclear leukocyte morphology MPheno.ontology MP:0008247 abnormal mononuclear cell morphology MP:0008247 any structural anomaly of a leukocyte with a single non-segmented nucleus in the mature form CL:0000842 any structural anomaly of a vertebrate phagocyte with a single nucleus MPheno.ontology MP:0008248 abnormal mononuclear phagocyte morphology MP:0008248 any structural anomaly of a vertebrate phagocyte with a single nucleus CL:0000113 any structural anomaly of a progenitor cell committed to the lymphoid lineage abnormal CLP abnormal common lymphoid progenitor cell lymphoid stem cell abnormalities MPheno.ontology MP:0008249 abnormal common lymphocyte progenitor cell morphology MP:0008249 any structural anomaly of a progenitor cell committed to the lymphoid lineage CL:0000051 PMID:10407577 any structural anomaly of a cell of the monocyte, granulocyte, or mast cell lineage abnormal myeloid leucocyte morphology MPheno.ontology MP:0008250 abnormal myeloid leukocyte morphology MP:0008250 any structural anomaly of a cell of the monocyte, granulocyte, or mast cell lineage CL:0000766 any structural anomaly of cells capable of ingesting particulate matter via phagocytosis abnormal phagocytic cell morphology MPheno.ontology MP:0008251 abnormal phagocyte morphology MP:0008251 any structural anomaly of cells capable of ingesting particulate matter via phagocytosis CL:0000234 ISBN:0721601464 any structural anomaly of a phagocyte formed by the fusion of mononuclear phagocytes MPheno.ontology MP:0008252 abnormal multinucleated phagocyte morphology MP:0008252 any structural anomaly of a phagocyte formed by the fusion of mononuclear phagocytes CL:0000783 absence of the giant 50 to 100 micron diameter cells with greatly lobulated nuclei found in the bone marrow; mature blood platelets are released from their cytoplasm absent megacaryocytes absent megalocaryocytes absent megalokaryocytes MPheno.ontology MP:0008253 absent megakaryocytes MP:0008253 absence of the giant 50 to 100 micron diameter cells with greatly lobulated nuclei found in the bone marrow; mature blood platelets are released from their cytoplasm CL:0000556 ISBN:0721601464 greater number of the giant 50 to 100 micron diameter cells with greatly lobulated nuclei found in the bone marrow; mature blood platelets are released from their cytoplasm increased megacaryocyte cell number increased megalocaryocyte cell number increased megalokaryocyte cell number increased number of megakaryocytes MPheno.ontology MP:0008254 increased megakaryocyte cell number MP:0008254 greater number of the giant 50 to 100 micron diameter cells with greatly lobulated nuclei found in the bone marrow; mature blood platelets are released from their cytoplasm CL:0000556 ISBN:0721601464 reduced number of the giant 50 to 100 micron diameter cells with greatly lobulated nuclei found in the bone marrow; mature blood platelets are released from their cytoplasm decreased megacaryocyte cell number decreased megalocaryocyte cell number decreased megalokaryocyte cell number decreased number of megakaryocytes reduced megakaryocyte cell number reduced number of megakaryocytes MPheno.ontology MP:0008255 decreased megakaryocyte cell number MP:0008255 reduced number of the giant 50 to 100 micron diameter cells with greatly lobulated nuclei found in the bone marrow; mature blood platelets are released from their cytoplasm CL:0000556 ISBN:0721601464 any structural anomaly of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium abnormal uterine smooth muscle morphology myometrium dysplasia MPheno.ontology abnormal uterus smooth muscle morphology MP:0008256 abnormal myometrium morphology MP:0008256 any structural anomaly of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium MESH:A02.633.570.500 MGI:brs reduced thickness of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium thin uterine smooth muscle thin uterus smooth muscle MPheno.ontology MP:0008257 thin myometrium MP:0008257 reduced thickness of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium MESH:A02.633.570.500 MGI:brs reduced thickness of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy MPheno.ontology MP:0008258 thin endometrium MP:0008258 reduced thickness of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy MESH:A05.360.319.679.490 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve MP:0002793 MP:0006215 abnormal optic disc abnormal optic disk optic disc abnormalities optic disk abnormalities abnormal optic disc morphology optic disc dysplasia optic disk dysplasia MPheno.ontology abnormal optic nerve head morphology MP:0008259 abnormal optic disk morphology MP:0008259 any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve https://orcid.org/0000-0003-4606-0597 abnormal catabolic process involving the degradation of a cell's own components through the lysosomal machinery abnormal autophagocytosis MPheno.ontology MP:0008260 abnormal autophagy MP:0008260 abnormal catabolic process involving the degradation of a cell's own components through the lysosomal machinery https://orcid.org/0000-0001-7973-5445 cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell MPheno.ontology MP:0008261 arrest of male meiosis MP:0008261 cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell ISBN:0-683-40008-8 any structural anomaly of a part or parts of the hippocampus that have a particular function abnormal hippocampal area abnormal hippocampal subfield morphology abnormal hippocampus area abnormal hippocampal region morphology MPheno.ontology abnormal hippocampus subfield morphology MP:0008262 abnormal hippocampus region morphology MP:0008262 any structural anomaly of a part or parts of the hippocampus that have a particular function https://orcid.org/0000-0003-3691-0324 any structural anomaly of a cytoarchitectural subregion of the Ammon's horn region of the hippocampal formation consisting primarily of pyramidal neurons; the pyramidal neurons of CA1 receive projections from pyramidal neurons of CA3 via the Schaffer collaterals and send outputs to the entorhinal cortex and to the subiculum abnormal CA1 field morphology abnormal CA1 field of Ammon's horn abnormal Cornu Ammonis 1 abnormal field CA1 of hippocampus abnormal regio superior of the hippocampus abnormal region I of hippocampus proper MPheno.ontology MP:0008263 abnormal hippocampus CA1 region morphology MP:0008263 any structural anomaly of a cytoarchitectural subregion of the Ammon's horn region of the hippocampal formation consisting primarily of pyramidal neurons; the pyramidal neurons of CA1 receive projections from pyramidal neurons of CA3 via the Schaffer collaterals and send outputs to the entorhinal cortex and to the subiculum NLX:birnlex_1197 missing the CA1 region of the hippocampus absent CA1 field morphology absent CA1 field of Ammon's horn absent Cornu Ammonis 1 absent field CA1 of hippocampus absent regio superior of the hippocampus MPheno.ontology MP:0008264 absent hippocampus CA1 region MP:0008264 missing the CA1 region of the hippocampus https://orcid.org/0000-0003-4606-0597 any structural anomaly of the smallest cytoarchitectural subregion of the Ammon's horn region of the hippocampal formation, located between CA3 and CA1, comprised of pyramidal neurons receiving both Schaffer collateral and mossy fiber input abnormal CA2 field morphology abnormal CA2 field of Ammon's horn abnormal Cornu Ammonis 2 abnormal field CA2 of hippocampus abnormal region II of hippocampus proper MPheno.ontology MP:0008265 abnormal hippocampus CA2 region morphology MP:0008265 any structural anomaly of the smallest cytoarchitectural subregion of the Ammon's horn region of the hippocampal formation, located between CA3 and CA1, comprised of pyramidal neurons receiving both Schaffer collateral and mossy fiber input NLX:birnlex_1362 missing the CA2 region of the hippocampus absent CA2 field morphology absent CA2 field of Ammon's horn absent Cornu Ammonis 2 absent field CA2 of hippocampus MPheno.ontology MP:0008266 absent hippocampus CA2 region MP:0008266 missing the CA2 region of the hippocampus https://orcid.org/0000-0003-4606-0597 any structural anomaly in the region of the hippocampus proper bounded by the hilus of the dentate gyrus and area CA2, characterized by large pyramidal cells and a dense projection from dentate gyrus granule cell mossy fibers abnormal CA3 field morphology abnormal CA3 field of Ammon's horn abnormal Cornu Ammonis 3 abnormal field CA3 of hippocampus MPheno.ontology MP:0008267 abnormal hippocampus CA3 region morphology MP:0008267 any structural anomaly in the region of the hippocampus proper bounded by the hilus of the dentate gyrus and area CA2, characterized by large pyramidal cells and a dense projection from dentate gyrus granule cell mossy fibers http://purl.obolibrary.org/obo/UBERON_0003883 missing the CA3 region of the hippocampus absent CA3 field morphology absent CA3 field of Ammon's horn absent Cornu Ammonis 3 absent field CA3 of hippocampus MPheno.ontology MP:0008268 absent hippocampus CA3 region MP:0008268 missing the CA3 region of the hippocampus https://orcid.org/0000-0003-4606-0597 any structural anomaly of the region of the hippocampal formation that is comprised of mossy cells that primarily receive inputs from granule cells in the dentate gyrus in the form of mossy fibers and from pyramidal cells in CA3, and send outputs into the dentate gyrus abnormal dentate gyrus hilus morphology abnormal field CA4 of hippocampal formation abnormal hilus of dentate gyrus morphology MPheno.ontology MP:0008269 abnormal hippocampus CA4 region morphology MP:0008269 any structural anomaly of the region of the hippocampal formation that is comprised of mossy cells that primarily receive inputs from granule cells in the dentate gyrus in the form of mossy fibers and from pyramidal cells in CA3, and send outputs into the dentate gyrus https://orcid.org/0000-0003-3691-0324 missing the CA4 region of the hippocampus absent dentate gyrus hilus absent field CA4 of hippocampal formation absent hilus of dentate gyrus MPheno.ontology MP:0008270 absent hippocampus CA4 region MP:0008270 missing the CA4 region of the hippocampus https://orcid.org/0000-0003-4606-0597 any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance MP:0000057 MP:0001535 MP:0001536 abnormal bone biosynthesis abnormal bone formation abnormal osteogenesis osteogenesis abnormalities MPheno.ontology MP:0008271 abnormal bone ossification MP:0008271 any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance GO:0001503 anomaly in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone MPheno.ontology MP:0008272 abnormal endochondral bone ossification MP:0008272 anomaly in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone GO:0001958 anomaly in the process of the formation of bone in which osteoblasts secrete a collage-proteoglycan matrix that binds calcium salts and becomes calcified; intramembranous ossification is the way flat bones are formed MPheno.ontology MP:0008273 abnormal intramembranous bone ossification MP:0008273 anomaly in the process of the formation of bone in which osteoblasts secrete a collage-proteoglycan matrix that binds calcium salts and becomes calcified; intramembranous ossification is the way flat bones are formed GO:0001957 failure to initiate or a block in the process of the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance failure of bone biosynthesis failure of bone formation MPheno.ontology MP:0008274 failure of bone ossification MP:0008274 failure to initiate or a block in the process of the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance GO:0001503 failure to initiate or a block in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone MPheno.ontology MP:0008275 failure of endochondral bone ossification MP:0008275 failure to initiate or a block in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone GO:0001958 failure to initiate or a block in the process of the formation of bone in which osteoblasts secrete a collage-proteoglycan matrix that binds calcium salts and becomes calcified; intramembranous ossification is the way flat bones are formed MPheno.ontology MP:0008276 failure of intramembranous bone ossification MP:0008276 failure to initiate or a block in the process of the formation of bone in which osteoblasts secrete a collage-proteoglycan matrix that binds calcium salts and becomes calcified; intramembranous ossification is the way flat bones are formed GO:0001957 anomaly in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone MPheno.ontology MP:0008277 abnormal sternum ossification MP:0008277 anomaly in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone GO:0001958 https://orcid.org/0009-0005-7755-8314 failure to initiate or a block in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone MPheno.ontology MP:0008278 failure of sternum ossification MP:0008278 failure to initiate or a block in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone GO:0001958 https://orcid.org/0009-0005-7755-8314 block in the process by which a spermatid transforms into a functional spermatozoon arrest of spermatid cell development arrest of spermatid development MPheno.ontology MP:0008279 arrest of spermiogenesis MP:0008279 block in the process by which a spermatid transforms into a functional spermatozoon ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 change in the timing or the number of male germ cells undergoing programmed cell death MPheno.ontology MP:0008280 abnormal male germ cell apoptosis MP:0008280 change in the timing or the number of male germ cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 anomaly in the size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation MPheno.ontology MP:0008281 abnormal hippocampus size MP:0008281 anomaly in the size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation ISBN:0-12-402035-6 https://orcid.org/0000-0003-3691-0324 increased size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation increased hippocampus size MPheno.ontology MP:0008282 enlarged hippocampus MP:0008282 increased size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation ISBN:0-12-402035-6 https://orcid.org/0000-0003-3691-0324 reduced size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation decreased hippocampus size MPheno.ontology MP:0008283 small hippocampus MP:0008283 reduced size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation ISBN:0-12-402035-6 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the cytoarchitectural term denoting the layer of the hippocampus in which pyramidal cells are predominant. Its location is superficial to the Stratum oriens; it is deep to the Stratum radiatum in area CA1 and area CA2 and deep to the Stratum lucidum in area CA3 abnormal stratum pyramidale morphology MPheno.ontology MP:0008284 abnormal hippocampus pyramidal cell layer MP:0008284 any structural anomaly of the cytoarchitectural term denoting the layer of the hippocampus in which pyramidal cells are predominant. Its location is superficial to the Stratum oriens; it is deep to the Stratum radiatum in area CA1 and area CA2 and deep to the Stratum lucidum in area CA3 ISSN:0073-0114 UBERON_0002313 any structural anomaly in the layer of the hippocampus composed primarily of granule cells abnormal stratum granulare morphology MPheno.ontology MP:0008285 abnormal hippocampus granule cell layer MP:0008285 any structural anomaly in the layer of the hippocampus composed primarily of granule cells https://orcid.org/0000-0003-4606-0597 any structural anomaly of the cytoarchitectural region of the hippocampus consisting of a composite of the two outermost layers of the hippocampus, the Stratum lacunosum-moleculare and the Stratum radiatum abnormal stratum moleculare morphology MPheno.ontology MP:0008286 abnormal hippocampus molecular cell layer MP:0008286 any structural anomaly of the cytoarchitectural region of the hippocampus consisting of a composite of the two outermost layers of the hippocampus, the Stratum lacunosum-moleculare and the Stratum radiatum ISBN:9780683014617 UBERON_0005368 any structural anomaly of the transitional zone between the parahippocampal gyrus and the Ammon gyrus MPheno.ontology MP:0008287 abnormal subiculum morphology MP:0008287 any structural anomaly of the transitional zone between the parahippocampal gyrus and the Ammon gyrus ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone abnormal adrenal capsule cortex abnormal adrenal gland cortex morphology abnormal adrenocortex morphology abnormal suprarenal gland cortex morphology MPheno.ontology MP:0008288 abnormal adrenal cortex morphology MP:0008288 any structural anomaly of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone ISBN:0-683-40008-8 MGI:llw2 any structural anomaly of the inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine abnormal adrenal gland medulla morphology abnormal suprarenal gland medulla morphology MPheno.ontology MP:0008289 abnormal adrenal medulla morphology MP:0008289 any structural anomaly of the inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine MESH:A06.407.071.265 MGI:llw2 absence of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone absent adrenal capsule cortex absent adrenal gland cortex absent suprarenal gland cortex MPheno.ontology MP:0008290 absent adrenal cortex MP:0008290 absence of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone ISBN:0-683-40008-8 MGI:llw2 any structural anomaly of the steroid hormone-producing cells of the cortex of the adrenal gland abnormal cortical cell morphology MPheno.ontology MP:0008291 abnormal adrenocortical cell morphology MP:0008291 any structural anomaly of the steroid hormone-producing cells of the cortex of the adrenal gland MGI:llw2 nuclei of the cells of the cortex of the adrenal gland are larger than normal adrenocortical cell nuclei hypertrophy increased adrenocortical cell nuclei size MPheno.ontology MP:0008292 enlarged adrenocortical cell nuclei MP:0008292 nuclei of the cells of the cortex of the adrenal gland are larger than normal MGI:llw2 any structural anomaly of the narrow subcapsular outer zone of the adrenal cortex where aldosterone is produced abnormal adrenal glomerulosa morphology abnormal zona glomerulosa morphology MPheno.ontology MP:0008293 abnormal adrenal gland zona glomerulosa morphology MP:0008293 any structural anomaly of the narrow subcapsular outer zone of the adrenal cortex where aldosterone is produced MESH:A06.407.071.140.960 MGI:llw2 any structural anomaly of the wide middle zone of the adrenal cortex that produces cortisol (hydrocortisone) abnormal adrenal fasciculata morphology abnormal zona fasciculata morphology MPheno.ontology MP:0008294 abnormal adrenal gland zona fasciculata morphology MP:0008294 any structural anomaly of the wide middle zone of the adrenal cortex that produces cortisol (hydrocortisone) MESH:A06.407.071.140.950 any structural anomaly of the inner zone of the adrenal cortex that produces the enzymes that convert pregnenolone, a 21-carbon steroid, to 19-carbon steroids abnormal adrenal reticularis morphology abnormal zona reticularis morphology abnormal zona reticulata morphology MPheno.ontology MP:0008295 abnormal adrenal gland zona reticularis morphology MP:0008295 any structural anomaly of the inner zone of the adrenal cortex that produces the enzymes that convert pregnenolone, a 21-carbon steroid, to 19-carbon steroids MESH:A06.407.071.140.970 any structural anomaly of the transient cortical layer juxtaposed to the medulla and the zona reticularis; in males, this zone rapidly involutes at the onset of puberty whereas this zone persists in females until the first pregnancy or later in adulthood in non-pregnant females MA:0001887 abnormal juxtamedullary x-zone morphology abnormal transient zone morphology abnormal x zone morphology abnormal x-zone morphology MPheno.ontology MP:0008296 abnormal adrenal gland x-zone morphology MP:0008296 any structural anomaly of the transient cortical layer juxtaposed to the medulla and the zona reticularis; in males, this zone rapidly involutes at the onset of puberty whereas this zone persists in females until the first pregnancy or later in adulthood in non-pregnant females MGI:llw2 PMID:3582592 failure of the transient cortical layer juxtaposed to the medulla and the zona reticularis to degenerate after puberty in males or after pregnancy in females persistent fetal x-zone persistent foetal x-zone retention of the fetal (adrenal gland) x-zone retention of the foetal (adrenal gland) x-zone retention of the x-zone MPheno.ontology MP:0008297 retention of the adrenal gland x-zone MP:0008297 failure of the transient cortical layer juxtaposed to the medulla and the zona reticularis to degenerate after puberty in males or after pregnancy in females MGI:llw2 PMID:3582592 an increase in the number of the cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion MPheno.ontology MP:0008298 adrenergic chromaffin cell hyperplasia MP:0008298 an increase in the number of the cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the adrenal cortex, typically resulting in increased size hyperplastic adrenal cortex MPheno.ontology MP:0008299 adrenal cortical hyperplasia MP:0008299 increase in the number of normal cells in normal arrangement in the adrenal cortex, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 increased size of the inner portion of the adrenal gland that consists mainly of chromaffin cells increased adrenal medulla size MPheno.ontology MP:0008300 enlarged adrenal medulla MP:0008300 increased size of the inner portion of the adrenal gland that consists mainly of chromaffin cells https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the adrenal medulla, typically resulting in increased size hyperplastic adrenal medulla MPheno.ontology MP:0008301 adrenal medulla hyperplasia MP:0008301 increase in the number of normal cells in normal arrangement in the adrenal medulla, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 reduced thickness of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone MPheno.ontology MP:0008302 thin adrenal cortex MP:0008302 reduced thickness of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone https://orcid.org/0000-0003-3691-0324 degeneration of the transient cortical layer juxtaposed to the medulla and the zona reticularis prior to the expected time; in males, this zone rapidly involutes at the onset of puberty whereas this zone persists in females until the first pregnancy or later in adulthood in non-pregnant females early degeneration of the x-zone MPheno.ontology MP:0008303 early degeneration of the adrenal gland x-zone MP:0008303 degeneration of the transient cortical layer juxtaposed to the medulla and the zona reticularis prior to the expected time; in males, this zone rapidly involutes at the onset of puberty whereas this zone persists in females until the first pregnancy or later in adulthood in non-pregnant females PMID:3582592 atypical production of or inability to produce the highly differentiated epithelial cells with distinctive morphological features that surround the hair cells in the organ of Corti MPheno.ontology MP:0008304 abnormal organ of Corti supporting cell differentiation MP:0008304 atypical production of or inability to produce the highly differentiated epithelial cells with distinctive morphological features that surround the hair cells in the organ of Corti https://orcid.org/0000-0002-6490-7723 any functional anomaly in processes pertinent to the integrated function of the highly differentiated epithelial cells with distinctive morphological features that surround the hair cells in the organ of Corti MPheno.ontology MP:0008305 abnormal organ of Corti supporting cell physiology MP:0008305 any functional anomaly in processes pertinent to the integrated function of the highly differentiated epithelial cells with distinctive morphological features that surround the hair cells in the organ of Corti https://orcid.org/0000-0002-6490-7723 aberrant timing or any anomaly in the ability of supporting cells in the organ of Corti to undergo expansion by cell division MPheno.ontology MP:0008306 abnormal organ of Corti supporting cell proliferation MP:0008306 aberrant timing or any anomaly in the ability of supporting cells in the organ of Corti to undergo expansion by cell division https://orcid.org/0000-0002-6490-7723 reduced length of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani short cochlear duct MPheno.ontology MP:0008307 short scala media MP:0008307 reduced length of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani https://orcid.org/0000-0002-6490-7723 reduced size of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani small cochlear duct MPheno.ontology MP:0008308 small scala media MP:0008308 reduced size of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani https://orcid.org/0000-0002-6490-7723 stretched or widened aperture of the luminal space of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani cochlear duct dilation dilated cochlear duct dilated cochlear ducts scala media dilation MPheno.ontology MP:0008309 dilated scala media MP:0008309 stretched or widened aperture of the luminal space of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani https://orcid.org/0000-0002-6490-7723 any structural anomaly of any or all of the cholinergic axonal fibers projecting from the CNS to a sympathetic ganglion abnormal sympathetic preganglionic fibre morphology MPheno.ontology MP:0008310 abnormal sympathetic preganglionic fiber morphology MP:0008310 any structural anomaly of any or all of the cholinergic axonal fibers projecting from the CNS to a sympathetic ganglion https://orcid.org/0000-0003-3691-0324 any structural anomaly of any or all of the cholinergic axonal fibers projecting from the CNS to a parasympathetic ganglion abnormal parasympathetic preganglionic fibre morphology MPheno.ontology MP:0008311 abnormal parasympathetic preganglionic fiber morphology MP:0008311 any structural anomaly of any or all of the cholinergic axonal fibers projecting from the CNS to a parasympathetic ganglion https://orcid.org/0000-0003-3691-0324 any structural anomaly of any or all of the noradrenergic and some adrenergic axonal fibers projecting from a sympathetic ganglion to an effector organ abnormal sympathetic postganglionic fibre morphology MPheno.ontology MP:0008312 abnormal sympathetic postganglionic fiber morphology MP:0008312 any structural anomaly of any or all of the noradrenergic and some adrenergic axonal fibers projecting from a sympathetic ganglion to an effector organ MESH:A08.663.542.075.800 https://orcid.org/0000-0003-3691-0324 any structural anomaly of any or all of the cholinergic axonal fibers projecting from a parasympathetic ganglion to an effector organ abnormal parasympathetic postganglionic fibre morphology MPheno.ontology MP:0008313 abnormal parasympathetic postganglionic fiber morphology MP:0008313 any structural anomaly of any or all of the cholinergic axonal fibers projecting from a parasympathetic ganglion to an effector organ MESH:A08.663.542.100.700 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the small parasympathetic ganglion that supplies nerve fibers to the lacrimal, nasal, palatine and pharyngeal glands abnormal Meckel ganglion morphology abnormal nasal ganglion morphology abnormal palatine ganglion morphology abnormal pterygopalatine ganglia morphology abnormal sphenopalatine ganglion morphology MPheno.ontology MP:0008314 abnormal pterygopalatine ganglion morphology MP:0008314 any structural anomaly of the small parasympathetic ganglion that supplies nerve fibers to the lacrimal, nasal, palatine and pharyngeal glands ISBN:0-683-40008-8 any structural anomaly of the ganglion that supplies nerve fibers to the parotid gland abnormal Arnold ganglion morphology abnormal auricular ganglion morphology abnormal otic ganglia morphology abnormal otoganglion morphology MPheno.ontology MP:0008315 abnormal otic ganglion morphology MP:0008315 any structural anomaly of the ganglion that supplies nerve fibers to the parotid gland ISBN:0-683-40008-8 any structural anomaly of the sympathetic ganglia located in front of the vertebral column and are associated with the major branches of the abdominal aorta; these include the celiac, aorticorenal, superior and inferior mesenteric ganglia abnormal prevertebral ganglia morphology MPheno.ontology MP:0008316 abnormal prevertebral ganglion morphology MP:0008316 any structural anomaly of the sympathetic ganglia located in front of the vertebral column and are associated with the major branches of the abdominal aorta; these include the celiac, aorticorenal, superior and inferior mesenteric ganglia ISBN:0-683-40008-8 any structural anomaly of the groups of postsynaptic neurons located at intervals along the sympatheic trunk, including the superior cervical, middle cervical and stellate (cervicothoracic) ganglia as well as the thoracic, lumbar and sacral ganglia abnormal chain ganglia abnormal chain ganglion abnormal ganglia of sympathetic trunk abnormal paravertebral ganglia abnormal sympathetic chain ganglia MPheno.ontology MP:0008317 abnormal paravertebral ganglion morphology MP:0008317 any structural anomaly of the groups of postsynaptic neurons located at intervals along the sympatheic trunk, including the superior cervical, middle cervical and stellate (cervicothoracic) ganglia as well as the thoracic, lumbar and sacral ganglia ISBN:0-683-40008-8 any structural anomaly of the major nerves supplying sympathetic innervation to the abdomen, including the greater, lesser, and lowest (or smallest) splanchnic nerves that are formed by preganglionic fibers from the spinal cord, which pass through the paravertebral ganglia and then to the celiac ganglia and plexuses, and the lumbar splanchnic nerves carry fibers which pass through the lumbar paravertebral ganglia to the mesenteric and hypogastric ganglia abnormal abdominopelvic splanchnic nerve morphology abnormal cardiopulmonary splanchnic nerve morphology abnormal pelvic splanchnic nerve morphology MPheno.ontology MP:0008318 abnormal splanchnic nerve morphology MP:0008318 any structural anomaly of the major nerves supplying sympathetic innervation to the abdomen, including the greater, lesser, and lowest (or smallest) splanchnic nerves that are formed by preganglionic fibers from the spinal cord, which pass through the paravertebral ganglia and then to the celiac ganglia and plexuses, and the lumbar splanchnic nerves carry fibers which pass through the lumbar paravertebral ganglia to the mesenteric and hypogastric ganglia MESH:A08.800.050.050.800 any structural anomaly of the fibers that conduct sensory nerve impulses from the viscera through the posterior dorsal roots into the spinal cord abnormal GVA morphology abnormal general visceral afferent fiber morphology abnormal general visceral afferent fibre morphology abnormal sympathetic afferent fibre morphology MPheno.ontology MP:0008319 abnormal sympathetic afferent fiber morphology MP:0008319 any structural anomaly of the fibers that conduct sensory nerve impulses from the viscera through the posterior dorsal roots into the spinal cord ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 absence of the anterior part of the pituitary that secretes a variety of hormones absent adenophysis absent anterior pituitary lobe MPheno.ontology MP:0008320 absent adenohypophysis MP:0008320 absence of the anterior part of the pituitary that secretes a variety of hormones https://orcid.org/0000-0003-3691-0324 reduced size of the anterior part of the pituitary that secretes a variety of hormones decreased adenohypophysis size small adenophysis small anterior pituitary lobe MPheno.ontology MP:0008321 small adenohypophysis MP:0008321 reduced size of the anterior part of the pituitary that secretes a variety of hormones https://orcid.org/0000-0003-3691-0324 any structural anomaly of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin abnormal somatotrope morphology abnormal somatotropic cell morphology abnormal somatrophic cell morphology MPheno.ontology MP:0008322 abnormal somatotroph morphology MP:0008322 any structural anomaly of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin CL:0002312 MESH:A06.407.747.608.937 any structural anomaly of an acidophilic cell of the anterior pituitary that produces prolactin abnormal epsilon-acidophil morphology abnormal lactotrope morphology abnormal lactotropic cell morphology abnormal mammotrope morphology abnormal mammotroph morphology abnormal mammotrophic cell morphology abnormal mammotropic cell morphology abnormal prolactin secreting cell morphology MPheno.ontology MP:0008323 abnormal lactotroph morphology MP:0008323 any structural anomaly of an acidophilic cell of the anterior pituitary that produces prolactin CL:0002311 MESH:A06.407.747.608.812 any structural anomaly of a cell of the intermediate pituitary that produces melanocyte stimulating hormone and other peptides from the post-translational processing of pro-opiomelanocortin (POMC) abnormal melanocyte stimulating hormone secreting cell morphology abnormal melanotrope morphology MPheno.ontology MP:0008324 abnormal melanotroph morphology MP:0008324 any structural anomaly of a cell of the intermediate pituitary that produces melanocyte stimulating hormone and other peptides from the post-translational processing of pro-opiomelanocortin (POMC) CL:0000440 MESH:A06.407.747.671.500 any structural anomaly of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) abnormal LH-secreting cells abnormal gonadotrope morphology abnormal gonadotrophic hormone secreting cell morphology abnormal FSH cells abnormal FSH-producing cells abnormal FSH-secreting cells abnormal LH cells abnormal LH-producing cells MPheno.ontology MP:0008325 abnormal gonadotroph morphology MP:0008325 any structural anomaly of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) MESH:A06.407.747.608.750 any structural anomaly of an anterior pituitary cell that produces thyroid-stimulating hormone abnormal TSH cells abnormal pituitary TSH-producing cell abnormal pituitary TSH-secreting cell abnormal thymotrope morphology abnormal thyreotroph morphology abnormal thyrotrope morphology MPheno.ontology abnormal thyroid-hormone secreting cell MP:0008326 abnormal thyrotroph morphology MP:0008326 any structural anomaly of an anterior pituitary cell that produces thyroid-stimulating hormone MESH:A06.407.747.608.968 any structural anomaly of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) abnormal adrenocorticotrophic hormone secreting cell abnormal adrenocorticotropic hormone secreting cell morphology abnormal corticotrope morphology abnormal corticotrophin hormone secreting cell abnormal corticotropin hormone secreting cell abnormal pituitary ACTH-producing cells abnormal pituitary ACTH-secreting cells abnormal pituitary adrenocorticotropin-secreting cells MPheno.ontology MP:0008327 abnormal corticotroph morphology MP:0008327 any structural anomaly of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) CL:0000467 MESH:A06.407.747.608.500 greater number of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin increased somatotrope number increased somatotropic cell number increased somatrophic cell number somatotrope hyperplasia somatotroph cell hyperplasia somatotroph hyperplasia MPheno.ontology MP:0008328 increased somatotroph cell number MP:0008328 greater number of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin CL:0002312 MESH:A06.407.747.608.937 reduced number of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin decreased somatotrope number decreased somatotropic cell number decreased somatrophic cell number reduced somatotrope number reduced somatotropic cell number reduced somatrophic cell number somatotroph cell hypoplasia somatotroph hypoplasia MPheno.ontology MP:0008329 decreased somatotroph cell number MP:0008329 reduced number of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin CL:0002312 MESH:A06.407.747.608.937 absence of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin absent somatotrope absent somatotropic cell absent somatrophic cell MPheno.ontology MP:0008330 absent somatotrophs MP:0008330 absence of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin CL:0002312 MESH:A06.407.747.608.937 greater number of the acidophilic cells of the anterior pituitary that produce prolactin increased epsilon-acidophil number increased lactotrope number increased lactotropic cell number increased mammotrope number increased mammotroph number increased mammotrophic cell number increased mammotropic cell number increased prolactin secreting cell number lactotrope hyperplasia lactotroph cell hyperplasia lactotroph hyperplasia MPheno.ontology MP:0008331 increased lactotroph cell number MP:0008331 greater number of the acidophilic cells of the anterior pituitary that produce prolactin CL:0002311 MESH:A06.407.747.608.812 reduced number of the acidophilic cells of the anterior pituitary that produce prolactin decreased epsilon-acidophil number decreased lactotrope number decreased lactotropic cell number decreased mammotrope number decreased mammotroph number decreased mammotrophic cell number decreased mammotropic cell number decreased prolactin secreting cell number lactotroph cell hypoplasia lactotroph hypoplasia reduced epsilon-acidophil number reduced lactotrope number reduced lactotropic cell number reduced mammotrope number reduced mammotroph number reduced mammotrophic cell number reduced mammotropic cell number reduced prolactin secreting cell number MPheno.ontology MP:0008332 decreased lactotroph cell number MP:0008332 reduced number of the acidophilic cells of the anterior pituitary that produce prolactin CL:0002311 MESH:A06.407.747.608.812 absence of the acidophilic cells of the anterior pituitary that produce prolactin absent epsilon-acidophil absent lactotrope absent lactotropic cell absent mammotrope absent mammotroph absent mammotrophic cell absent mammotropic cell absent prolactin secreting cell MPheno.ontology MP:0008333 absent lactotrophs MP:0008333 absence of the acidophilic cells of the anterior pituitary that produce prolactin CL:0002311 MESH:A06.407.747.608.812 greater number of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) gonadotrope hyperplasia gonadotroph cell hyperplasia gonadotroph hyperplasia increased LH-secreting cell number increased gonadotrope number increased gonadotrophic hormone secreting cell number increased FSH cell number increased FSH-producing cell number increased FSH-secreting cell number increased LH cell number increased LH-producing cell number MPheno.ontology MP:0008334 increased gonadotroph cell number MP:0008334 greater number of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) MESH:A06.407.747.608.750 reduced number of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) decreased LH-secreting cell number decreased gonadotrope number decreased gonadotrophic hormone secreting cell number gonadotroph cell hypoplasia gonadotroph hypoplasia reduced LH-secreting cell number reduced gonadotrope number reduced gonadotrophic hormone secreting cell number decreased FSH cell number decreased FSH-producing cell number decreased FSH-secreting cell number decreased LH cell number decreased LH-producing cell number reduced FSH cell number reduced FSH-producing cell number reduced FSH-secreting cell number reduced LH cell number reduced LH-producing cell number MPheno.ontology MP:0008335 decreased gonadotroph cell number MP:0008335 reduced number of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) MESH:A06.407.747.608.750 absence of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) absent LH-secreting cell absent gonadotrope absent gonadotrophic hormone secreting cell absent FSH cell absent FSH-producing cell absent FSH-secreting cell absent LH cell absent LH-producing cell MPheno.ontology MP:0008336 absent gonadotrophs MP:0008336 absence of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) MESH:A06.407.747.608.750 greater number of an anterior pituitary cell that produces thyroid-stimulating hormone increased TSH cell number increased pituitary TSH-producing cell number increased pituitary TSH-secreting cell number increased thymotrope number increased thyreotroph number increased thyrotrope number thyrotrope hyperplasia thyrotroph cell hyperplasia thyrotroph hyperplasia MPheno.ontology increased thyroid-hormone secreting cell number MP:0008337 increased thyrotroph cell number MP:0008337 greater number of an anterior pituitary cell that produces thyroid-stimulating hormone MESH:A06.407.747.608.968 reduced number of an anterior pituitary cell that produces thyroid-stimulating hormone decreased TSH cell number decreased pituitary TSH-producing cell number decreased pituitary TSH-secreting cell number decreased thymotrope number decreased thyreotroph number decreased thyrotrope number reduced TSH cell number reduced pituitary TSH-producing cell number reduced pituitary TSH-secreting cell number reduced thymotrope number reduced thyreotroph number reduced thyrotrope number thyrotroph cell hypoplasia thyrotroph hypoplasia MPheno.ontology decreased thyroid-hormone secreting cell number reduced thyroid-hormone secreting cell number MP:0008338 decreased thyrotroph cell number MP:0008338 reduced number of an anterior pituitary cell that produces thyroid-stimulating hormone MESH:A06.407.747.608.968 absence of an anterior pituitary cell that produces thyroid-stimulating hormone absent TSH cell absent pituitary TSH-producing cell absent pituitary TSH-secreting cell absent thymotrope absent thyreotroph absent thyrotrope MPheno.ontology absent thyroid-hormone secreting cell MP:0008339 absent thyrotrophs MP:0008339 absence of an anterior pituitary cell that produces thyroid-stimulating hormone MESH:A06.407.747.608.968 greater number of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) corticotrope hyperplasia corticotroph cell hyperplasia corticotroph hyperplasia increased adrenocorticotrophic hormone secreting cell number increased adrenocorticotropic hormone secreting cell number increased corticotrope number increased corticotrophin hormone secreting cell number increased corticotropin hormone secreting cell number increased pituitary ACTH-producing cell number increased pituitary ACTH-secreting cell number increased pituitary adrenocorticotropin-secreting cell number MPheno.ontology MP:0008340 increased corticotroph cell number MP:0008340 greater number of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) CL:0000467 MESH:A06.407.747.608.500 reduced number of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) corticotroph cell hypoplasia corticotroph hypoplasia decreased adrenocorticotrophic hormone secreting cell number decreased adrenocorticotropic hormone secreting cell number decreased corticotrope number decreased corticotrophin hormone secreting cell number decreased corticotropin hormone secreting cell number decreased pituitary ACTH-producing cell number decreased pituitary ACTH-secreting cell number decreased pituitary adrenocorticotropin-secreting cell number reduced adrenocorticotrophic hormone secreting cell number reduced adrenocorticotropic hormone secreting cell number reduced corticotrope number reduced corticotrophin hormone secreting cell number reduced corticotropin hormone secreting cell number reduced pituitary ACTH-producing cell number reduced pituitary ACTH-secreting cell number reduced pituitary adrenocorticotropin-secreting cell number MPheno.ontology MP:0008341 decreased corticotroph cell number MP:0008341 reduced number of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) CL:0000467 MESH:A06.407.747.608.500 absence of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) absent adrenocorticotrophic hormone secreting cell absent adrenocorticotropic hormone secreting cell absent corticotrope absent corticotrophin hormone secreting cell absent corticotropin hormone secreting cell absent pituitary ACTH-producing cell absent pituitary ACTH-secreting cell absent pituitary adrenocorticotropin-secreting cell MPheno.ontology MP:0008342 absent corticotrophs MP:0008342 absence of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) CL:0000467 MESH:A06.407.747.608.500 any structural anomaly of an immature or mature T cell expressing an gamma-delta T cell receptor complex abnormal TCRgd cell morphology abnormal gamma-delta T lymphocyte morphology abnormal gamma-delta T-cell morphology abnormal gamma-delta T-lymphocyte morphology MPheno.ontology MP:0008343 Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. abnormal gamma-delta T cell morphology MP:0008343 any structural anomaly of an immature or mature T cell expressing an gamma-delta T cell receptor complex CL:0000798 ISBN:0781735149 any structural anomaly of a mature T cell expressing an gamma-delta T cell receptor complex abnormal mature gamma-delta T lymphocyte morphology abnormal mature gamma-delta T-cell morphology abnormal mature gamma-delta T-lymphocyte morphology MPheno.ontology MP:0008344 Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. abnormal mature gamma-delta T cell morphology MP:0008344 any structural anomaly of a mature T cell expressing an gamma-delta T cell receptor complex CL:0000798 ISBN:0781735149 anomaly in the number of immature or mature T cells expressing an gamma-delta T cell receptor complex abnormal gamma-delta T lymphocyte number abnormal gamma-delta T-cell number abnormal gamma-delta T-lymphocyte number MPheno.ontology MP:0008345 Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. abnormal gamma-delta T cell number MP:0008345 anomaly in the number of immature or mature T cells expressing an gamma-delta T cell receptor complex CL:0000798 ISBN:0781735149 greater number of immature or mature T cells expressing an gamma-delta T cell receptor complex increased gamma-delta T lymphocyte number increased gamma-delta T-cell number increased gamma-delta T-lymphocyte number MPheno.ontology MP:0008346 Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. increased gamma-delta T cell number MP:0008346 greater number of immature or mature T cells expressing an gamma-delta T cell receptor complex CL:0000798 ISBN:0781735149 reduced number of immature or mature T cells expressing an gamma-delta T cell receptor complex decreased gamma-delta T lymphocyte number decreased gamma-delta T-cell number decreased gamma-delta T-lymphocyte number reduced gamma-delta T lymphocyte number reduced gamma-delta T-cell number reduced gamma-delta T-lymphocyte number MPheno.ontology MP:0008347 Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. decreased gamma-delta T cell number MP:0008347 reduced number of immature or mature T cells expressing an gamma-delta T cell receptor complex CL:0000798 ISBN:0781735149 absence of immature or mature T cells expressing an gamma-delta T cell receptor complex absent gamma-delta T lymphocyte absent gamma-delta T-cell absent gamma-delta T-lymphocyte MPheno.ontology MP:0008348 Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. absent gamma-delta T cells MP:0008348 absence of immature or mature T cells expressing an gamma-delta T cell receptor complex CL:0000798 ISBN:0781735149 any structural anomaly of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements abnormal IEL morphology abnormal gamma-delta intraepithelial T lymphocyte morphology abnormal gamma-delta intraepithelial T-cell morphology abnormal gamma-delta intraepithelial T-lymphocyte morphology MPheno.ontology MP:0008349 abnormal gamma-delta intraepithelial T cell morphology MP:0008349 any structural anomaly of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements CL:0000801 ISBN:0781735149 greater number of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements increased IEL number increased intraepithelial lymphocyte number increased gamma-delta intraepithelial T lymphocyte number increased gamma-delta intraepithelial T-cell number increased gamma-delta intraepithelial T-lymphocyte number MPheno.ontology MP:0008350 increased gamma-delta intraepithelial T cell number MP:0008350 greater number of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements CL:0000801 ISBN:0781735149 reduced number of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements decreased IEL number decreased intraepithelial lymphocyte number reduced IEL number reduced intraepithelial lymphocyte number decreased gamma-delta intraepithelial T lymphocyte number decreased gamma-delta intraepithelial T-cell number decreased gamma-delta intraepithelial T-lymphocyte number reduced gamma-delta intraepithelial T lymphocyte number reduced gamma-delta intraepithelial T-cell number reduced gamma-delta intraepithelial T-lymphocyte number MPheno.ontology MP:0008351 decreased gamma-delta intraepithelial T cell number MP:0008351 reduced number of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements CL:0000801 ISBN:0781735149 absence of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements absent IEL absent intraepithelial lymphocyte absent gamma-delta intraepithelial T lymphocyte absent gamma-delta intraepithelial T-cell absent gamma-delta intraepithelial T-lymphocyte MPheno.ontology MP:0008352 absent gamma-delta intraepithelial T cell MP:0008352 absence of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements CL:0000801 ISBN:0781735149 increased number of a mature T cell expressing an gamma-delta T cell receptor complex increased mature gamma-delta T lymphocyte number increased mature gamma-delta T-cell number increased mature gamma-delta T-lymphocyte number MPheno.ontology MP:0008353 Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. increased mature gamma-delta T cell number MP:0008353 increased number of a mature T cell expressing an gamma-delta T cell receptor complex CL:0000798 ISBN:0781735149 reduced number of a mature T cell expressing an gamma-delta T cell receptor complex decreased mature gamma-delta T lymphocyte number decreased mature gamma-delta T-cell number decreased mature gamma-delta T-lymphocyte number reduced mature gamma-delta T lymphocyte number reduced mature gamma-delta T-cell number reduced mature gamma-delta T-lymphocyte number MPheno.ontology MP:0008354 Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. decreased mature gamma-delta T cell number MP:0008354 reduced number of a mature T cell expressing an gamma-delta T cell receptor complex CL:0000798 ISBN:0781735149 absence of a mature T cell expressing an gamma-delta T cell receptor complex absent mature gamma-delta T lymphocyte absent mature gamma-delta T-cell absent mature gamma-delta T-lymphocyte MPheno.ontology MP:0008355 Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. absent mature gamma-delta T cells MP:0008355 absence of a mature T cell expressing an gamma-delta T cell receptor complex CL:0000798 ISBN:0781735149 atypical production of or inability to produce gamma-delta T cells, and/or accumulation of gamma-delta T cell precursors abnormal gamma-delta T lymphocyte differentiation abnormal gamma-delta T-cell differentiation abnormal gamma-delta T-lymphocyte differentiation MPheno.ontology MP:0008356 Note that gamma-delta T cell have both thymic and extrathymic differentiation pathways. abnormal gamma-delta T cell differentiation MP:0008356 atypical production of or inability to produce gamma-delta T cells, and/or accumulation of gamma-delta T cell precursors CL:0000798 ISBN:0781735149 any structural anomaly of a CD4-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements abnormal IEL morphology abnormal intraepithelial lymphocyte morphology abnormal CD4-positive, gamma-delta intraepithelial T lymphocyte morphology abnormal CD4-positive, gamma-delta intraepithelial T-cell morphology abnormal CD4-positive, gamma-delta intraepithelial T-lymphocyte morphology MPheno.ontology MP:0008357 abnormal CD4-positive, gamma-delta intraepithelial T cell morphology MP:0008357 any structural anomaly of a CD4-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements CL:0000803 ISBN:0781735149 greater number of a CD4-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements increased IEL number increased intraepithelial lymphocyte number increased CD4-positive, gamma-delta intraepithelial T lymphocyte number increased CD4-positive, gamma-delta intraepithelial T-cell number increased CD4-positive, gamma-delta intraepithelial T-lymphocyte number MPheno.ontology MP:0008358 increased CD4-positive, gamma-delta intraepithelial T cell number MP:0008358 greater number of a CD4-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements CL:0000803 ISBN:0781735149 reduced number of a CD4-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements decreased IEL number decreased intraepithelial lymphocyte number reduced IEL number reduced intraepithelial lymphocyte number decreased CD4-positive, gamma-delta intraepithelial T lymphocyte number decreased CD4-positive, gamma-delta intraepithelial T-cell number decreased CD4-positive, gamma-delta intraepithelial T-lymphocyte number reduced CD4-positive, gamma-delta intraepithelial T lymphocyte number reduced CD4-positive, gamma-delta intraepithelial T-cell number reduced CD4-positive, gamma-delta intraepithelial T-lymphocyte number MPheno.ontology MP:0008359 decreased CD4-positive, gamma-delta intraepithelial T cell number MP:0008359 reduced number of a CD4-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements CL:0000803 ISBN:0781735149 absence of a CD4-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements absent IEL absent intraepithelial lymphocyte absent CD4-positive, gamma-delta intraepithelial T lymphocyte absent CD4-positive, gamma-delta intraepithelial T-cell absent CD4-positive, gamma-delta intraepithelial T-lymphocyte MPheno.ontology MP:0008360 absent CD4-positive, gamma-delta intraepithelial T cells MP:0008360 absence of a CD4-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements CL:0000803 ISBN:0781735149 any structural anomaly of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements abnormal IEL morphology abnormal intraepithelial lymphocyte morphology abnormal CD8-positive, gamma-delta intraepithelial T lymphocyte morphology abnormal CD8-positive, gamma-delta intraepithelial T-cell morphology abnormal CD8-positive, gamma-delta intraepithelial T-lymphocyte morphology MPheno.ontology MP:0008361 abnormal CD8-positive, gamma-delta intraepithelial T cell morphology MP:0008361 any structural anomaly of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements CL:0000803 ISBN:0781735149 greater number of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements increased IEL number increased intraepithelial lymphocyte number increased CD8-positive, gamma-delta intraepithelial T lymphocyte number increased CD8-positive, gamma-delta intraepithelial T-cell number increased CD8-positive, gamma-delta intraepithelial T-lymphocyte number MPheno.ontology MP:0008362 increased CD8-positive, gamma-delta intraepithelial T cell number MP:0008362 greater number of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements CL:0000803 ISBN:0781735149 reduced number of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements decreased IEL number decreased intraepithelial lymphocyte number reduced IEL number reduced intraepithelial lymphocyte number decreased CD8-positive, gamma-delta intraepithelial T lymphocyte number decreased CD8-positive, gamma-delta intraepithelial T-cell number decreased CD8-positive, gamma-delta intraepithelial T-lymphocyte number reduced CD8-positive, gamma-delta intraepithelial T lymphocyte number reduced CD8-positive, gamma-delta intraepithelial T-cell number reduced CD8-positive, gamma-delta intraepithelial T-lymphocyte number MPheno.ontology MP:0008363 decreased CD8-positive, gamma-delta intraepithelial T cell number MP:0008363 reduced number of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements CL:0000803 ISBN:0781735149 absence of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements absent IEL absent intraepithelial lymphocyte absent CD8-positive, gamma-delta intraepithelial T lymphocyte absent CD8-positive, gamma-delta intraepithelial T-cell absent CD8-positive, gamma-delta intraepithelial T-lymphocyte MPheno.ontology MP:0008364 absent CD8-positive, gamma-delta intraepithelial T cells MP:0008364 absence of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements CL:0000803 ISBN:0781735149 decrease in the number of normal cells in normal arrangement in the adenohypophysis, typically resulting in decreased size adenophysis hypoplasia hypoplastic adenohypophysis hypoplastic anterior lobe of the pituitary pituitary anterior lobe hypoplasia MPheno.ontology MP:0008365 adenohypophysis hypoplasia MP:0008365 decrease in the number of normal cells in normal arrangement in the adenohypophysis, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 increased size of the anterior part of the pituitary that secretes a variety of hormones increased adenohypophysis size MPheno.ontology MP:0008366 enlarged adenohypophysis MP:0008366 increased size of the anterior part of the pituitary that secretes a variety of hormones https://orcid.org/0000-0003-3691-0324 absence of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults absence of pituitary intermediate lobe MPheno.ontology MP:0008367 absent pituitary intermediate lobe MP:0008367 absence of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults https://orcid.org/0000-0003-3691-0324 reduced size of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults decreased pituitary intermediate lobe size reduced pituitary intermediate lobe size MPheno.ontology MP:0008368 small pituitary intermediate lobe MP:0008368 reduced size of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the pituitary intermediate lobe, typically resulting in decreased size hypoplastic pituitary intermediate lobe MPheno.ontology MP:0008369 pituitary intermediate lobe hypoplasia MP:0008369 decrease in the number of normal cells in normal arrangement in the pituitary intermediate lobe, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 increased size of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults increased pituitary intermediate lobe size MPheno.ontology MP:0008370 enlarged pituitary intermediate lobe MP:0008370 increased size of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the pituitary intermediate lobe, typically resulting in increased size hyperplastic pituitary intermediate lobe MPheno.ontology MP:0008371 pituitary intermediate lobe hyperplasia MP:0008371 increase in the number of normal cells in normal arrangement in the pituitary intermediate lobe, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 reduced size of the largest of the three auditory ossicles, which resembles a club or hammer decreased malleus size reduced malleus size MPheno.ontology MP:0008372 small malleus MP:0008372 reduced size of the largest of the three auditory ossicles, which resembles a club or hammer ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 reduced length of the largest of the three auditory ossicles, which resembles a club or hammer decreased malleus length MPheno.ontology MP:0008373 short malleus MP:0008373 reduced length of the largest of the three auditory ossicles, which resembles a club or hammer ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any structural anomaly in the handle of the malleus, which extends downward, inward, and backward from the neck of the malleus and is embedded throughout its length in the tympanic membrane abnormal manubrium morphology abnormal handle of malleus morphology abnormal malleal manubrium morphology abnormal malleus handle morphology abnormal manubrium mallei morphology abnormal manubrium of malleus morphology MPheno.ontology MP:0008374 abnormal malleus manubrium morphology MP:0008374 any structural anomaly in the handle of the malleus, which extends downward, inward, and backward from the neck of the malleus and is embedded throughout its length in the tympanic membrane https://orcid.org/0000-0002-6490-7723 reduced length of the handle of the malleus short manubrium decreased malleus manubrium length reduced malleus manubrium length short handle of malleus short malleal manubrium short malleus handle short manubrium mallei short manubrium of malleus MPheno.ontology MP:0008375 short malleus manubrium MP:0008375 reduced length of the handle of the malleus https://orcid.org/0000-0002-6490-7723 reduced size of the handle of the malleus small manubrium decreased malleus manubrium size reduced malleus manubrium size small handle of malleus small malleal manubrium small malleus handle small manubrium mallei small manubrium of malleus MPheno.ontology MP:0008376 small malleus manubrium MP:0008376 reduced size of the handle of the malleus https://orcid.org/0000-0002-6490-7723 absence of the handle of the malleus absent manubrium absent handle of malleus absent malleal manubrium absent malleus handle absent manubrium mallei absent manubrium of malleus MPheno.ontology MP:0008377 absent malleus manubrium MP:0008377 absence of the handle of the malleus https://orcid.org/0000-0002-6490-7723 reduced size of the projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane decreased malleus processus brevis size reduced malleus processus brevis size small malleal processus brevis MPheno.ontology MP:0008378 small malleus processus brevis MP:0008378 reduced size of the projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane https://orcid.org/0000-0002-6490-7723 absence of the rounded portion of the malleus articulating with the body of the incus absent caput mallei absent head of malleus MPheno.ontology MP:0008379 absent malleus head MP:0008379 absence of the rounded portion of the malleus articulating with the body of the incus https://orcid.org/0000-0002-6490-7723 any structural anomaly of the investing bone that lies on the surface of the malleus abnormal gonium MPheno.ontology MP:0008380 abnormal gonial bone morphology MP:0008380 any structural anomaly of the investing bone that lies on the surface of the malleus https://orcid.org/0000-0002-6490-7723 absence of the investing bone that normally lies on the surface of the malleus absent gonium MPheno.ontology MP:0008381 absent gonial bone MP:0008381 absence of the investing bone that normally lies on the surface of the malleus https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the gonial bone, typically resulting in decreased size hypoplastic gonium MPheno.ontology MP:0008382 gonial bone hypoplasia MP:0008382 decrease in the number of normal cells in normal arrangement in the gonial bone, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increased size of the investing bone that lies on the surface of the malleus enlarged gonium increased gonial bone size MPheno.ontology MP:0008383 enlarged gonial bone MP:0008383 increased size of the investing bone that lies on the surface of the malleus https://orcid.org/0000-0002-6490-7723 absence of the cartilage around the developing nasal cavity of the embryo MPheno.ontology MP:0008384 absent nasal capsule MP:0008384 absence of the cartilage around the developing nasal cavity of the embryo https://orcid.org/0000-0002-6490-7723 absence of the part of the base of the cranium found between the basioccipital and the presphenoid bone MPheno.ontology MP:0008385 absent basisphenoid bone MP:0008385 absence of the part of the base of the cranium found between the basioccipital and the presphenoid bone https://orcid.org/0000-0002-6490-7723 absence of the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone to join the tympanic portion MPheno.ontology MP:0008386 absent styloid process MP:0008386 absence of the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone to join the tympanic portion https://orcid.org/0000-0002-6490-7723 hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, resulting in insufficient oxygenation of tissues and organs hypochromic anaemia normocytic hypochromic anaemia normocytic hypochromic anemia MPheno.ontology MP:0008387 hypochromic anemia MP:0008387 hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, resulting in insufficient oxygenation of tissues and organs https://orcid.org/0000-0003-3691-0324 https://orcid.org/0000-0003-4606-0597 hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal hypochromic microcytic anaemia microcytic hypochromic anaemia microcytic hypochromic anemia MPheno.ontology MP:0008388 hypochromic microcytic anemia MP:0008388 hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal https://orcid.org/0000-0003-3691-0324 hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is larger than normal hypochromic macrocytic anaemia macrocytic hypochromic anaemia macrocytic hypochromic anemia MPheno.ontology MP:0008389 hypochromic macrocytic anemia MP:0008389 hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is larger than normal https://orcid.org/0000-0003-3691-0324 anomaly in the ability of the primordial germ cell population to undergo rapid expansion by cell division MPheno.ontology MP:0008390 abnormal primordial germ cell proliferation MP:0008390 anomaly in the ability of the primordial germ cell population to undergo rapid expansion by cell division https://orcid.org/0000-0003-3691-0324 any structural anomaly of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge CL:0000670 abnormal PGC morphology MPheno.ontology MP:0008391 abnormal primordial germ cell morphology MP:0008391 any structural anomaly of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge https://orcid.org/0000-0003-3691-0324 reduced number of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge decreased PGC number reduced PGC number reduced primordial germ cell number MPheno.ontology MP:0008392 decreased primordial germ cell number MP:0008392 reduced number of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge https://orcid.org/0000-0003-3691-0324 absence of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge absent PGCs MPheno.ontology MP:0008393 absent primordial germ cells MP:0008393 absence of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge https://orcid.org/0000-0003-3691-0324 greater number of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge increased PGC number MPheno.ontology MP:0008394 increased primordial germ cell number MP:0008394 greater number of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge https://orcid.org/0000-0003-3691-0324 atypical production of or inability to produce skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell MP:0005008 abnormal osteoblast formation abnormal osteoplast formation MPheno.ontology MP:0008395 abnormal osteoblast differentiation MP:0008395 atypical production of or inability to produce skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell CL:0000062 atypical production of or inability to produce the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue MP:0000059 abnormal osteoclast formation abnormal osteophage formation MPheno.ontology abnormal chondroclast differentiation MP:0008396 abnormal osteoclast differentiation MP:0008396 atypical production of or inability to produce the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue CL:0000092 any structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release abnormal suppressor T cell morphology abnormal suppressor T lymphocyte morphology abnormal suppressor T-cell morphology abnormal suppressor T-lymphocyte morphology CL:0000792 abnormal CD4-positive, CD25-positive, alpha-beta Treg morphology abnormal CD4-positive, CD25-positive, alpha-beta regulatory T lymphocyte morphology abnormal CD4-positive, CD25-positive, alpha-beta regulatory T-cell morphology abnormal CD4-positive, CD25-positive, alpha-beta regulatory T-lymphocyte morphology MPheno.ontology MP:0008397 abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology MP:0008397 any structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release ISBN:0781735149 any structural anomaly of a CD8-positive, alpha-beta T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release abnormal suppressor T cell morphology abnormal suppressor T lymphocyte morphology abnormal suppressor T-cell morphology abnormal suppressor T-lymphocyte morphology CL:0000795 abnormal CD8-positive, alpha-beta Treg morphology abnormal CD8-positive, alpha-beta regulatory T lymphocyte morphology abnormal CD8-positive, alpha-beta regulatory T-cell morphology abnormal CD8-positive, alpha-beta regulatory T-lymphocyte morphology MPheno.ontology MP:0008398 abnormal CD8-positive, alpha-beta regulatory T cell morphology MP:0008398 any structural anomaly of a CD8-positive, alpha-beta T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release ISBN:0781735149 any structural anomaly of an alpha-beta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements abnormal IEL morphology abnormal intraepithelial lymphocyte morphology CL:0000797 abnormal alpha-beta intraepithelial T lymphocyte morphology abnormal alpha-beta intraepithelial T-cell morphology abnormal alpha-beta intraepithelial T-lymphocyte morphology MPheno.ontology MP:0008399 abnormal alpha-beta intraepithelial T cell morphology MP:0008399 any structural anomaly of an alpha-beta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements ISBN:0781735149 any structural anomaly of a CD4-positive, alpha-beta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements abnormal IEL morphology abnormal intraepithelial lymphocyte morphology CL:0000793 abnormal CD4-positive, alpha-beta intraepithelial T lymphocyte morphology abnormal CD4-positive, alpha-beta intraepithelial T-cell morphology abnormal CD4-positive, alpha-beta intraepithelial T-lymphocyte morphology MPheno.ontology MP:0008400 abnormal CD4-positive, alpha-beta intraepithelial T cell morphology MP:0008400 any structural anomaly of a CD4-positive, alpha-beta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements ISBN:0781735149 any structural anomaly of a CD8-positive, alpha-beta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements abnormal IEL morphology CL:0000796 abnormal CD8-positive, alpha-beta intraepithelial T lymphocyte morphology abnormal CD8-positive, alpha-beta intraepithelial T-cell morphology abnormal CD8-positive, alpha-beta intraepithelial T-lymphocyte morphology MPheno.ontology MP:0008401 abnormal CD8 positive, alpha-beta intraepithelial T cell morphology MP:0008401 any structural anomaly of a CD8-positive, alpha-beta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements ISBN:0781735149 greater incidence of cell death following exposure to agents that cause DNA damage via the addition of alkyl groups to any or all of the bases of DNA decreased cellular resistance to alkylating agents increased cellular susceptibility to alkylating agents MPheno.ontology MP:0008402 increased cellular sensitivity to alkylating agents MP:0008402 greater incidence of cell death following exposure to agents that cause DNA damage via the addition of alkyl groups to any or all of the bases of DNA https://orcid.org/0000-0003-3691-0324 reduced incidence of cell death following exposure to agents that cause DNA damage via the addition of alkyl groups to any or all of the bases of DNA decreased cellular susceptibility to alkylating agents increased cellular resistance to alkylating agents reduced cellular sensitivity to alkylating agents MPheno.ontology MP:0008403 decreased cellular sensitivity to alkylating agents MP:0008403 reduced incidence of cell death following exposure to agents that cause DNA damage via the addition of alkyl groups to any or all of the bases of DNA https://orcid.org/0000-0003-3691-0324 greater incidence of cell death following exposure to methylmethanesulfonate decreased cellular resistance to MMS decreased cellular resistance to methylmethanesulfonate increased cellular sensitivity to MMS increased cellular susceptibility to MMS increased cellular susceptibility to methylmethanesulfonate MPheno.ontology MP:0008404 increased cellular sensitivity to methylmethanesulfonate MP:0008404 greater incidence of cell death following exposure to methylmethanesulfonate https://orcid.org/0000-0003-3691-0324 reduced incidence of cell death following exposure to methylmethanesulfonate decreased cellular sensitivity to MMS decreased cellular susceptibility to MMS decreased cellular susceptibility to methylmethanesulfonate increased cellular resistance to MMS increased cellular resistance to methylmethanesulfonate reduced cellular sensitivity to MMS reduced cellular sensitivity to methylmethanesulfonate MPheno.ontology MP:0008405 decreased cellular sensitivity to methylmethanesulfonate MP:0008405 reduced incidence of cell death following exposure to methylmethanesulfonate https://orcid.org/0000-0003-3691-0324 greater incidence of cell death following exposure to hydrogen peroxide decreased cellular resistance to H2O2 decreased cellular resistance to hydrogen peroxide increased cellular sensitivity to H2O2 increased cellular susceptibility to H2O2 increased cellular susceptibility to hydrogen peroxide MPheno.ontology MP:0008406 increased cellular sensitivity to hydrogen peroxide MP:0008406 greater incidence of cell death following exposure to hydrogen peroxide https://orcid.org/0000-0003-3691-0324 reduced incidence of cell death following exposure to hydrogen peroxide decreased cellular sensitivity to H2O2 decreased cellular susceptibility to H2O2 increased cellular resistance to H2O2 reduced cellular sensitivity to H2O2 reduced cellular sensitivity to hydrogen peroxide MPheno.ontology MP:0008407 decreased cellular sensitivity to hydrogen peroxide MP:0008407 reduced incidence of cell death following exposure to hydrogen peroxide https://orcid.org/0000-0003-3691-0324 reduced incidence of cell death following exposure to hydroxyurea decreased cellular susceptibility to hydroxyurea increased cellular resistance to hydroxyurea reduced cellular sensitivity to hydroxyurea MPheno.ontology MP:0008408 decreased cellular sensitivity to hydroxyurea MP:0008408 reduced incidence of cell death following exposure to hydroxyurea https://orcid.org/0000-0003-3691-0324 greater incidence of cell death following exposure to hydroxyurea decreased cellular resistance to hydroxyurea increased cellular susceptibility to hydroxyurea MPheno.ontology MP:0008409 increased cellular sensitivity to hydroxyurea MP:0008409 greater incidence of cell death following exposure to hydroxyurea https://orcid.org/0000-0003-3691-0324 greater incidence of cell death following exposure to ultraviolet irradiation decreased cellular resistance to ultraviolet irradiation increased cellular susceptibility to ultraviolet irradiation MPheno.ontology MP:0008410 increased cellular sensitivity to ultraviolet irradiation MP:0008410 greater incidence of cell death following exposure to ultraviolet irradiation https://orcid.org/0000-0003-3691-0324 reduced incidence of cell death following exposure to ultraviolet irradiation decreased cellular susceptibility to ultraviolet irradiation increased cellular resistance to ultraviolet irradiation reduced cellular sensitivity to ultraviolet irradiation MPheno.ontology MP:0008411 decreased cellular sensitivity to ultraviolet irradiation MP:0008411 reduced incidence of cell death following exposure to ultraviolet irradiation https://orcid.org/0000-0003-3691-0324 greater incidence of cell death or enhanced production of reactive oxygen species after exposure to a variety of stress conditions including ionizing radiation, exposure to xenobiotics, inflammation, and phagocytosis decreased cellular resistance to oxidative stress increased cellular susceptibility to oxidative stress MPheno.ontology MP:0008412 increased cellular sensitivity to oxidative stress MP:0008412 greater incidence of cell death or enhanced production of reactive oxygen species after exposure to a variety of stress conditions including ionizing radiation, exposure to xenobiotics, inflammation, and phagocytosis https://orcid.org/0000-0003-3691-0324 reduced incidence of cell death or enhanced production of reactive oxygen species after exposure to a variety of stress conditions including ionizing radiation, exposure to xenobiotics, inflammation, and phagocytosis decreased cellular susceptibility to oxidative stress increased cellular resistance to oxidative stress reduced cellular sensitivity to oxidative stress MPheno.ontology MP:0008413 decreased cellular sensitivity to oxidative stress MP:0008413 reduced incidence of cell death or enhanced production of reactive oxygen species after exposure to a variety of stress conditions including ionizing radiation, exposure to xenobiotics, inflammation, and phagocytosis https://orcid.org/0000-0003-3691-0324 anomaly in the ability to recall spatial location information from previous encounters or training sessions in order to navigate or perform other behavior using such location cues abnormal SRM MPheno.ontology MP:0008414 abnormal spatial reference memory MP:0008414 anomaly in the ability to recall spatial location information from previous encounters or training sessions in order to navigate or perform other behavior using such location cues https://orcid.org/0000-0003-3691-0324 any structural anomaly of a neuronal process, either a dendrite or an axon in vivo, or a filamentous projection from a neuron such as is seen in tissue culture MPheno.ontology MP:0008415 abnormal neurite morphology MP:0008415 any structural anomaly of a neuronal process, either a dendrite or an axon in vivo, or a filamentous projection from a neuron such as is seen in tissue culture PMID:12951572 excessive growth or enlargement of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin somatotroph cell hypertrophy somatotroph hypertrophy MPheno.ontology MP:0008416 increased somatotroph cell size MP:0008416 excessive growth or enlargement of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin MESH:A06.407.747.608.937 https://orcid.org/0000-0003-3691-0324 reduced growth or small size of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin reduced somatotroph cell size somatotroph hypotrophy MPheno.ontology MP:0008417 decreased somatotroph cell size MP:0008417 reduced growth or small size of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin MESH:A06.407.747.608.937 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the slender connective tissue fiber in the extracellular matrix of skin tissue that is composed of microfibrils and amorphous elastin and is characterized by great elasticity abnormal cutaneous elastic fibre morphology abnormal dermal elastic fiber morphology abnormal dermal elastic fibre morphology MPheno.ontology MP:0008418 abnormal cutaneous elastic fiber morphology MP:0008418 any structural anomaly of the slender connective tissue fiber in the extracellular matrix of skin tissue that is composed of microfibrils and amorphous elastin and is characterized by great elasticity https://orcid.org/0000-0003-3691-0324 any structural anomaly of the fiber-like strand of fibrillin that forms the scaffold of the cutaneous elastic fibers found in the extracellular matrix of the skin MPheno.ontology MP:0008419 abnormal cutaneous microfibril morphology MP:0008419 any structural anomaly of the fiber-like strand of fibrillin that forms the scaffold of the cutaneous elastic fibers found in the extracellular matrix of the skin https://orcid.org/0000-0003-3691-0324 excessive growth or enlargement of an anterior pituitary cell that produces thyroid-stimulating hormone thyrotroph cell hypertrophy thyrotroph hypertrophy MPheno.ontology MP:0008420 increased thyrotroph cell size MP:0008420 excessive growth or enlargement of an anterior pituitary cell that produces thyroid-stimulating hormone MESH:A06.407.747.608.968 reduced growth or small size of an anterior pituitary cell that produces thyroid-stimulating hormone reduced thyrotroph cell size MPheno.ontology MP:0008421 decreased thyrotroph cell size MP:0008421 reduced growth or small size of an anterior pituitary cell that produces thyroid-stimulating hormone MESH:A06.407.747.608.968 https://orcid.org/0000-0003-3691-0324 excessive growth or enlargement of the acidophilic cells of the anterior pituitary that produce prolactin increased epsilon-acidophil size increased lactotrope size increased lactotropic cell size increased mammotrope size increased mammotroph size increased mammotrophic cell size lactotroph cell hypertrophy lactotroph hypertrophy MPheno.ontology MP:0008422 increased lactotroph cell size MP:0008422 excessive growth or enlargement of the acidophilic cells of the anterior pituitary that produce prolactin CL:0002311 MESH:A06.407.747.608.812 reduced growth or small size of the acidophilic cells of the anterior pituitary that produce prolactin decreased epsilon-acidophil size decreased lactotrope size decreased lactotropic cell size decreased mammotrope size decreased mammotroph size decreased mammotrophic cell size decreased mammotropic cell size reduced lactotroph cell size MPheno.ontology MP:0008423 decreased lactotroph cell size MP:0008423 reduced growth or small size of the acidophilic cells of the anterior pituitary that produce prolactin CL:0002311 MESH:A06.407.747.608.812 excessive growth or enlargement of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) gonadotroph cell hypertrophy gonadotroph hypertrophy MPheno.ontology MP:0008424 increased gonadotroph cell size MP:0008424 excessive growth or enlargement of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) MESH:A06.407.747.608.750 reduced growth or small size of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) reduced gonadotroph cell size MPheno.ontology MP:0008425 decreased gonadotroph cell size MP:0008425 reduced growth or small size of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH) MESH:A06.407.747.608.750 https://orcid.org/0000-0003-3691-0324 excessive growth or enlargement of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) corticotroph cell hypertrophy corticotroph hypertrophy MPheno.ontology MP:0008426 increased corticotroph cell size MP:0008426 excessive growth or enlargement of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) MESH:A06.407.747.608.500 https://orcid.org/0000-0003-3691-0324 reduced growth or small size of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) reduced corticotroph cell size MPheno.ontology MP:0008427 decreased corticotroph cell size MP:0008427 reduced growth or small size of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH) MESH:A06.407.747.608.500 https://orcid.org/0000-0003-3691-0324 anomaly in the ability to spontaneously process spatial location information in order to navigate or perform other behavior using such location cues, without previous encounters or training at that location abnormal SWM MPheno.ontology MP:0008428 abnormal spatial working memory MP:0008428 anomaly in the ability to spontaneously process spatial location information in order to navigate or perform other behavior using such location cues, without previous encounters or training at that location https://orcid.org/0000-0003-3691-0324 absence of the largest of the major salivary glands situated below and in front of each ear absent external salivary gland morphology absent glandula parotidea morphology absent glandula parotis morphology MPheno.ontology MP:0008429 absent parotid gland MP:0008429 absence of the largest of the major salivary glands situated below and in front of each ear https://orcid.org/0000-0002-6490-7723 length reduction of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault decreased squamosal bone length reduced squamosal bone length short squamosal bone short squamous bone short squamous part of temporal bone short squamous temporal bone short temporal squama MPheno.ontology MP:0008430 short temporal bone squamous part MP:0008430 length reduction of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault https://orcid.org/0000-0002-6490-7723 anomaly in the short-term memory for spatial location information that is established during the first few minutes after training or an encounter at that location abnormal short term spatial reference memory abnormal short-term SRM MPheno.ontology MP:0008431 abnormal short-term spatial reference memory MP:0008431 anomaly in the short-term memory for spatial location information that is established during the first few minutes after training or an encounter at that location https://orcid.org/0000-0003-3691-0324 anomaly in long-term memory for spatial location information that is consolidated over hours and days after training or an encounter at that location abnormal long-term SRM MPheno.ontology abnormal long term spatial reference memory MP:0008432 abnormal long-term spatial reference memory MP:0008432 anomaly in long-term memory for spatial location information that is consolidated over hours and days after training or an encounter at that location https://orcid.org/0000-0003-3691-0324 any structural anomaly of a somatotroph cell nucleus abnormal somatotroph cell nucleus MPheno.ontology MP:0008433 abnormal somatotroph cell nucleus morphology MP:0008433 any structural anomaly of a somatotroph cell nucleus MGI:llw2 decreased size of a somatotroph cell nucleus MPheno.ontology MP:0008434 small somatotroph cell nucleus MP:0008434 decreased size of a somatotroph cell nucleus MGI:llw2 increased size of a somatotroph cell nucleus MPheno.ontology MP:0008435 large somatotroph cell nucleus MP:0008435 increased size of a somatotroph cell nucleus MGI:llw2 decreased number of vesicles derived from the golgi that contain somatotropin growth hormone to be released at the cell surface decreased somatotroph secretory vesicle number reduced somatotroph secretory granule number MPheno.ontology MP:0008436 decreased somatotroph secretory granule number MP:0008436 decreased number of vesicles derived from the golgi that contain somatotropin growth hormone to be released at the cell surface MGI:llw2 absence of vesicles derived from the golgi that contain somatotropin growth hormone to be released at the cell surface MPheno.ontology MP:0008437 absent somatotroph secretory granules MP:0008437 absence of vesicles derived from the golgi that contain somatotropin growth hormone to be released at the cell surface MGI:llw2 any structural anomaly of the connective tissue bundles in the extracellular matrix of skin tissue that are composed of collagen, and play a role in skin strength and elasticity abnormal dermal collagen fiber morphology abnormal dermal collagen fibre morphology abnormal dermal collagen fibril morphology MPheno.ontology MP:0008438 abnormal cutaneous collagen fibril morphology MP:0008438 any structural anomaly of the connective tissue bundles in the extracellular matrix of skin tissue that are composed of collagen, and play a role in skin strength and elasticity https://orcid.org/0000-0003-3691-0324 any structural anomaly of the outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers abnormal CP morphology abnormal immature cerebral cortex morphology MPheno.ontology MP:0008439 abnormal cortical plate morphology MP:0008439 any structural anomaly of the outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers PMID:1812236 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate abnormal SP morphology MPheno.ontology MP:0008440 abnormal subplate morphology MP:0008440 any structural anomaly of the transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate PMID:8210173 https://orcid.org/0000-0003-3691-0324 reduced thickness of the outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers MPheno.ontology MP:0008441 thin cortical plate MP:0008441 reduced thickness of the outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers PMID:1812236 https://orcid.org/0000-0003-3691-0324 derangement of the patterned arrangement of the cortical plate disorganised cortical plate MPheno.ontology MP:0008442 disorganized cortical plate MP:0008442 derangement of the patterned arrangement of the cortical plate https://orcid.org/0000-0003-3691-0324 absence of the transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate MPheno.ontology MP:0008443 absent subplate MP:0008443 absence of the transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate PMID:8210173 https://orcid.org/0000-0003-3691-0324 a retrogressive impairment of function or destruction of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment retinal cone cell degeneration MPheno.ontology MP:0008444 retina cone cell degeneration MP:0008444 a retrogressive impairment of function or destruction of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment MESH:A08.663.650.650.670.100 https://orcid.org/0000-0003-3691-0324 greater number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment increased number of retinal cone cells increased retinal cone cell number MPheno.ontology MP:0008445 increased retina cone cell number MP:0008445 greater number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment MESH:A08.663.650.650.670.100 reduced number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment decreased number of retinal cone cells decreased retinal cone cell number reduced retina cone cell number reduced retinal cone cell number MPheno.ontology MP:0008446 decreased retina cone cell number MP:0008446 reduced number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment MESH:A08.663.650.650.670.100 https://orcid.org/0000-0003-3691-0324 absence of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment absent retinal cone cells MPheno.ontology MP:0008447 absent retina cone cells MP:0008447 absence of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment MESH:A08.663.650.650.670.100 any structural anomaly of the retinal cone cell region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region abnormal retinal cone cell inner segment morphology MPheno.ontology MP:0008448 abnormal retina cone cell inner segment morphology MP:0008448 any structural anomaly of the retinal cone cell region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region https://orcid.org/0000-0003-3691-0324 any structural anomaly of the retinal cone cell region in which the visual pigment rhodopsin is in invaginations of the cell membrane abnormal COS morphology abnormal retinal cone cell outer segment morphology MPheno.ontology MP:0008449 abnormal retina cone cell outer segment morphology MP:0008449 any structural anomaly of the retinal cone cell region in which the visual pigment rhodopsin is in invaginations of the cell membrane https://orcid.org/0000-0003-3691-0324 a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina retinal photoreceptor degeneration MPheno.ontology MP:0008450 retina photoreceptor degeneration MP:0008450 a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina MESH:A08.663.650.650 https://orcid.org/0000-0003-3691-0324 a retrogressive impairment of function or destruction of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane retinal rod cell degeneration MPheno.ontology MP:0008451 retina rod cell degeneration MP:0008451 a retrogressive impairment of function or destruction of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane MESH:A08.663.650.650.670.650 greater number of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane increased number of retinal rod cells increased retinal rod cell number MPheno.ontology MP:0008452 increased retina rod cell number MP:0008452 greater number of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane MESH:A08.663.650.650.670.650 reduced number of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane decreased number of retinal rod cells decreased retinal rod cell number reduced retina rod cell number reduced retinal rod cell number MPheno.ontology MP:0008453 decreased retina rod cell number MP:0008453 reduced number of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane MESH:A08.663.650.650.670.650 absence of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane absent retinal rod cells MPheno.ontology MP:0008454 absent retina rod cells MP:0008454 absence of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane MESH:A08.663.650.650.670.650 any structural anomaly of the retinal rod cell region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region abnormal retinal rod cell inner segment morphology MPheno.ontology MP:0008455 abnormal retina rod cell inner segment morphology MP:0008455 any structural anomaly of the retinal rod cell region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region https://orcid.org/0000-0003-3691-0324 any structural anomaly of the retinal rod cell region which contains stacks of membranous discs separate from the outer cell membrane that are rich in the visual pigment rhodopsin abnormal ROS morphology abnormal retinal rod cell outer segment morphology MPheno.ontology MP:0008456 abnormal retina rod cell outer segment morphology MP:0008456 any structural anomaly of the retinal rod cell region which contains stacks of membranous discs separate from the outer cell membrane that are rich in the visual pigment rhodopsin https://orcid.org/0000-0003-3691-0324 any structural anomaly of the region of the developing mammalian cortex that extends between the ventricular zone and the cortical plate (CP); normally, the IZ is a region of tangential migration of cells, and at midgestation, the lower part of the IZ develops into the subventricular zone abnormal IZ morphology MPheno.ontology MP:0008457 abnormal cortical intermediate zone morphology MP:0008457 any structural anomaly of the region of the developing mammalian cortex that extends between the ventricular zone and the cortical plate (CP); normally, the IZ is a region of tangential migration of cells, and at midgestation, the lower part of the IZ develops into the subventricular zone PMID:10632599 any structural anomaly of a transient region of the developing cerebral cortex that contains migrating neurons, radial glial cells, and a large population of cycling multipotent neural stem cells that generate newborn neurons abnormal VZ morphology MPheno.ontology MP:0008458 abnormal cortical ventricular zone morphology MP:0008458 any structural anomaly of a transient region of the developing cerebral cortex that contains migrating neurons, radial glial cells, and a large population of cycling multipotent neural stem cells that generate newborn neurons https://orcid.org/0000-0003-3691-0324 anomaly in the amount of the 36-amino acid pancreatic hormone in the blood that is secreted mainly by endocrine cells found at the periphery of the islets of Langerhans in response to ingestions, and regulates gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite abnormal blood pancreatic polypeptide amount abnormal circulating PP level abnormal circulating pancreatic polypeptide hormone level abnormal circulating pancreatic polypeptide level abnormal circulating pancreatic prohormone level MPheno.ontology MP:0008459 abnormal circulating pancreatic peptide level MP:0008459 anomaly in the amount of the 36-amino acid pancreatic hormone in the blood that is secreted mainly by endocrine cells found at the periphery of the islets of Langerhans in response to ingestions, and regulates gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite ISBN:0-683-40008-8 MESH:D06.472.699.587.700 absence of the groups of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column absent DRGs absent dorsal root ganglia MPheno.ontology absent spinal ganglia absent spinal ganglion MP:0008460 absent dorsal root ganglion MP:0008460 absence of the groups of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column MESH:A08.340.390.340 https://orcid.org/0000-0003-3691-0324 anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the left side of the body MPheno.ontology MP:0008461 left atrial isomerism MP:0008461 anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the left side of the body https://orcid.org/0000-0003-4606-0597 any structural anomaly of the inhibitory projection neurons located in the striatum that integrate glutamatergic signals arising from the cerebral cortex and thalamus abnormal striatal neuron morphology abnormal MSN morphology MPheno.ontology MP:0008462 abnormal medium spiny neuron morphology MP:0008462 any structural anomaly of the inhibitory projection neurons located in the striatum that integrate glutamatergic signals arising from the cerebral cortex and thalamus PMID:15504319 any structural anomaly of the lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes abnormal external lymph node morphology MPheno.ontology MP:0008463 abnormal peripheral lymph node morphology MP:0008463 any structural anomaly of the lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes https://orcid.org/0000-0003-3691-0324 absence of the lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes MPheno.ontology MP:0008464 absent peripheral lymph nodes MP:0008464 absence of the lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes https://orcid.org/0000-0003-3691-0324 absence of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group MPheno.ontology MP:0008465 absent mesenteric lymph nodes MP:0008465 absence of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group ISBN:0-683-40008-8 increased size of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group increased mesenteric lymph node size MPheno.ontology mesenteric lymphoadenopathy MP:0008466 enlarged mesenteric lymph nodes MP:0008466 increased size of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group ISBN:0-683-40008-8 absence of the sensory neurons of the dorsal root ganglia that sense body position and send information about how much the muscle is stretched to the spinal cord MPheno.ontology MP:0008467 absent proprioceptive neurons MP:0008467 absence of the sensory neurons of the dorsal root ganglia that sense body position and send information about how much the muscle is stretched to the spinal cord https://orcid.org/0000-0003-3691-0324 absence of the sensory organs in muscle that are involved in the stretch reflex absent Kuhne spindle absent neuromuscular spindle MPheno.ontology MP:0008468 absent muscle spindles MP:0008468 absence of the sensory organs in muscle that are involved in the stretch reflex ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 anomaly in the amount of any of the macromolecules consisting of long chains of amino acids in peptide linkage MPheno.ontology MP:0008469 abnormal protein level MP:0008469 anomaly in the amount of any of the macromolecules consisting of long chains of amino acids in peptide linkage https://orcid.org/0000-0003-3691-0324 any structural anomaly of the area of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur abnormal spleen B lymphocyte follicle morphology abnormal splenic B cell follicle morphology MPheno.ontology MP:0008470 abnormal spleen B cell follicle morphology MP:0008470 any structural anomaly of the area of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur PMID:17495967 any structural anomaly of the nodules of small undifferentiated B lymphocytes and follicular dendritic cells located in the spleen white pulp abnormal splenic primary B cell morphology MPheno.ontology MP:0008471 abnormal spleen primary B follicle morphology MP:0008471 any structural anomaly of the nodules of small undifferentiated B lymphocytes and follicular dendritic cells located in the spleen white pulp PMID:17495967 any structural anomaly of the nodules of antigen-activated, differentiating B cells, follicular dendritic cells, antigen-presenting T cells and macrophages in the spleen white pulp abnormal splenic secondary B cell follicle morphology MPheno.ontology MP:0008472 abnormal spleen secondary B follicle morphology MP:0008472 any structural anomaly of the nodules of antigen-activated, differentiating B cells, follicular dendritic cells, antigen-presenting T cells and macrophages in the spleen white pulp PMID:17495967 any structural anomaly of the enmeshed group of antigen presenting cells with extensive dendritic processes in the spleen B cell follicle that present antigen to B cells during an immune response abnormal FDC network abnormal FDCN abnormal spleen FDC network abnormal splenic follicular dendritic cell network MPheno.ontology MP:0008473 The follicular dendritic cell network is often visualized by using the monoclonal antibody FDC-M2. abnormal spleen follicular dendritic cell network MP:0008473 any structural anomaly of the enmeshed group of antigen presenting cells with extensive dendritic processes in the spleen B cell follicle that present antigen to B cells during an immune response https://orcid.org/0000-0003-3691-0324 absence of the area of the spleen secondary B follicle where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs absent spleen GC absent spleen follicle center absent spleen follicle centre absent spleen germinal centre absent splenic germinal center absent splenic germinal centre MPheno.ontology MP:0008474 Germinal centers are often identified by the binding of peanut agglutinin (PNA). absent spleen germinal center MP:0008474 absence of the area of the spleen secondary B follicle where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs PMID:17495967 no clear demarcation of the spleen red and white pulp tissue intermingled splenic red and white pulp MPheno.ontology MP:0008475 intermingled spleen red and white pulp MP:0008475 no clear demarcation of the spleen red and white pulp tissue https://orcid.org/0000-0003-3691-0324 increase in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation increased splenic red pulp MPheno.ontology MP:0008476 increased spleen red pulp amount MP:0008476 increase in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation https://orcid.org/0000-0003-3691-0324 reduction in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation decreased splenic red pulp reduced spleen red pulp amount MPheno.ontology MP:0008477 decreased spleen red pulp amount MP:0008477 reduction in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation https://orcid.org/0000-0003-3691-0324 increase in the quantity of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies increased splenic white pulp amount MPheno.ontology MP:0008478 increased spleen white pulp amount MP:0008478 increase in the quantity of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies https://orcid.org/0000-0003-3691-0324 reduction in the quantity of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies decreased splenic white pulp amount reduced spleen white pulp amount MPheno.ontology MP:0008479 decreased spleen white pulp amount MP:0008479 reduction in the quantity of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies https://orcid.org/0000-0003-3691-0324 absence of melanin (pigment) in the eye either due to absent melanocytes or failure of melanin synthesis albino eye MPheno.ontology MP:0008480 absent eye pigmentation MP:0008480 absence of melanin (pigment) in the eye either due to absent melanocytes or failure of melanin synthesis https://orcid.org/0000-0003-3691-0324 greater number of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs increased spleen GC number increased spleen follicle center number increased spleen follicle centre number increased spleen germinal centre number increased splenic germinal center number increased splenic germinal centre number MPheno.ontology MP:0008481 Germinal centers are often identified by the binding of peanut agglutinin (PNA). increased spleen germinal center number MP:0008481 greater number of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs PMID:17495967 reduced number of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs decreased spleen GC number decreased spleen follicle center number decreased spleen follicle centre number decreased spleen germinal centre number decreased splenic germinal center number decreased splenic germinal centre number reduced spleen GC number reduced spleen follicle center number reduced spleen follicle centre number reduced spleen germinal center number reduced spleen germinal centre number MPheno.ontology MP:0008482 Germinal centers are often identified by the binding of peanut agglutinin (PNA). decreased spleen germinal center number MP:0008482 reduced number of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs PMID:17495967 greater size of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs increased spleen GC size increased spleen follicle center size increased spleen follicle centre size increased spleen germinal centre size increased splenic germinal center size increased splenic germinal centre size MPheno.ontology MP:0008483 Germinal centers are often identified by the binding of peanut agglutinin (PNA). increased spleen germinal center size MP:0008483 greater size of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs PMID:17495967 reduced size of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs decreased spleen GC size decreased spleen follicle center size decreased spleen follicle centre size decreased splenic germinal center size decreased splenic germinal centre size reduced spleen GC size reduced spleen follicle center size reduced spleen follicle centre size reduced spleen germinal center size reduced spleen germinal centre size MPheno.ontology MP:0008484 Germinal centers are often identified by the binding of peanut agglutinin (PNA). decreased spleen germinal center size MP:0008484 reduced size of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs PMID:17495967 greater number of the sensory organs in muscle that are involved in the stretch reflex increased Kuhne spindle number increased neuromuscular spindle number MPheno.ontology MP:0008485 increased muscle spindle number MP:0008485 greater number of the sensory organs in muscle that are involved in the stretch reflex ISBN:0838580343 reduced number of the sensory organs in muscle that are involved in the stretch reflex decreased Kuhne spindle number decreased neuromuscular spindle number reduced Kuhne spindle number reduced muscle spindle number MPheno.ontology MP:0008486 decreased muscle spindle number MP:0008486 reduced number of the sensory organs in muscle that are involved in the stretch reflex ISBN:0838580343 any structural anomaly of the excretory organ of the embryo, collective Wolffian tubules, which forms the urogenital fold from which the reproductive organs develop abnormal Wolffian body morphology abnormal middle kidney abnormal primitive kidney abnormal Wolffian tubules abnormal mesonephric tubules MPheno.ontology MP:0008487 The mesonephros is the permanent kidney in fish and amphibians, but atrophies in reptiles, birds, and mammals. abnormal mesonephros morphology MP:0008487 any structural anomaly of the excretory organ of the embryo, collective Wolffian tubules, which forms the urogenital fold from which the reproductive organs develop MESH:A16.254.500 any structural anomaly of the spherical enlargement at the base of each semicircular canal where they connect with the utricle, containing the crista ampullaris which detects movement of the fluid within the canals abnormal membranous ampullae of the semicircular ducts MPheno.ontology MP:0008488 abnormal semicircular canal ampulla morphology MP:0008488 any structural anomaly of the spherical enlargement at the base of each semicircular canal where they connect with the utricle, containing the crista ampullaris which detects movement of the fluid within the canals ISBN:0-683-40008-8 the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults postnatal slow weight gain reduced body weight gain MPheno.ontology MP:0008489 slow postnatal weight gain MP:0008489 the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults https://orcid.org/0000-0003-3691-0324 increased size a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column enlarged DRG enlarged dorsal root ganglia increased dorsal root ganglion size MPheno.ontology enlarged spinal ganglion MP:0008490 enlarged dorsal root ganglion MP:0008490 increased size a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column MESH:A08.340.390.340 increase in the number of normal cells in normal arrangement in the dorsal root ganglion, typically resulting in increased size DRG hyperplasia dorsal root ganglia hyperplasia hyperplastic dorsal root ganglion spinal ganglion hyperplasia MPheno.ontology MP:0008491 dorsal root ganglion hyperplasia MP:0008491 increase in the number of normal cells in normal arrangement in the dorsal root ganglion, typically resulting in increased size MESH:A08.340.390.340 retrogressive pathological change of a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column MPheno.ontology MP:0008492 dorsal root ganglion degeneration MP:0008492 retrogressive pathological change of a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column MESH:A08.340.390.340 formation of aggregates of the alpha-synuclein protein in neural and glial tissue; often seen in neurodegenerative disorders such as Parkinson's disease MPheno.ontology MP:0008493 alpha-synuclein inclusion body MP:0008493 formation of aggregates of the alpha-synuclein protein in neural and glial tissue; often seen in neurodegenerative disorders such as Parkinson's disease https://orcid.org/0000-0003-3691-0324 absence of all of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits MPheno.ontology MP:0008494 absence of all nails MP:0008494 absence of all of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits https://orcid.org/0000-0003-4606-0597 less than normal immunoglobulin class G1 level reduced IgG1 level decreased serum level of immunoglobulin G1 MPheno.ontology MP:0008495 decreased IgG1 level MP:0008495 less than normal immunoglobulin class G1 level https://orcid.org/0000-0003-1980-3228 less than normal immunoglobulin class G2a level reduced IgG2a level decreased serum level of immunoglobulin G2a MPheno.ontology MP:0008496 decreased IgG2a level MP:0008496 less than normal immunoglobulin class G2a level https://orcid.org/0000-0003-1980-3228 less than normal immunoglobulin class G2b level reduced IgG2b level decreased serum level of immunoglobulin G2b MPheno.ontology MP:0008497 decreased IgG2b level MP:0008497 less than normal immunoglobulin class G2b level https://orcid.org/0000-0003-1980-3228 less than normal immunoglobulin class G3 level reduced IgG3 level decreased serum level of immunoglobulin G3 MPheno.ontology MP:0008498 decreased IgG3 level MP:0008498 less than normal immunoglobulin class G3 level https://orcid.org/0000-0003-1980-3228 greater than normal immunoglobulin class G1 level increased serum level of immunoglobulin G1 MPheno.ontology MP:0008499 increased IgG1 level MP:0008499 greater than normal immunoglobulin class G1 level https://orcid.org/0000-0003-1980-3228 greater than normal immunoglobulin class G2a level increased serum level of immunoglobulin G2a MPheno.ontology MP:0008500 increased IgG2a level MP:0008500 greater than normal immunoglobulin class G2a level https://orcid.org/0000-0003-1980-3228 greater than normal immunoglobulin class G2b level increased serum level of immunoglobulin G2b MPheno.ontology MP:0008501 increased IgG2b level MP:0008501 greater than normal immunoglobulin class G2b level https://orcid.org/0000-0003-1980-3228 greater than normal immunoglobulin class G3 level increased serum level of immunoglobulin G3 MPheno.ontology MP:0008502 increased IgG3 level MP:0008502 greater than normal immunoglobulin class G3 level https://orcid.org/0000-0003-1980-3228 any structural anomaly of the ridge-shaped grey matter of the spinal cord that extends longitudinally through the center of each half of the spinal cord, and are largely or entirely composed of nerve cell bodies and their dendrites and some supportive tissue MA:0000002 abnormal spinal cord gray columns morphology abnormal spinal cord gray matter morphology abnormal spinal cord grey columns morphology MPheno.ontology abnormal spinal cord mantle layer morphology MP:0008503 abnormal spinal cord grey matter morphology MP:0008503 any structural anomaly of the ridge-shaped grey matter of the spinal cord that extends longitudinally through the center of each half of the spinal cord, and are largely or entirely composed of nerve cell bodies and their dendrites and some supportive tissue ISBN:0-683-40008-8 MGI:llw2 any structural anomaly of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine and norepinephrine secretion abnormal phaeochromocyte MPheno.ontology MP:0008504 abnormal adrenal chromaffin cell morphology MP:0008504 any structural anomaly of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine and norepinephrine secretion https://orcid.org/0000-0003-3691-0324 absence of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine and norepinephrine secretion absent phaeochromocyte MPheno.ontology MP:0008505 absent adrenal chromaffin cells MP:0008505 absence of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine and norepinephrine secretion https://orcid.org/0000-0003-3691-0324 any structural anomaly of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for norepinephrine secretion MPheno.ontology MP:0008506 abnormal noradrenergic chromaffin cell morphology MP:0008506 any structural anomaly of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for norepinephrine secretion https://orcid.org/0000-0003-3691-0324 reduced thickness of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain thin retinal ganglion layer MPheno.ontology MP:0008507 thin retina ganglion layer MP:0008507 reduced thickness of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain https://orcid.org/0000-0003-3691-0324 increased thickness of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain thick retinal ganglion layer MPheno.ontology MP:0008508 thick retina ganglion layer MP:0008508 increased thickness of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain https://orcid.org/0000-0003-3691-0324 derangement of the pattern of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain disorganised retina ganglion layer MPheno.ontology MP:0008509 disorganized retina ganglion layer MP:0008509 derangement of the pattern of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain https://orcid.org/0000-0003-3691-0324 absence of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain absent retinal ganglion layer MPheno.ontology MP:0008510 absent retina ganglion layer MP:0008510 absence of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain https://orcid.org/0000-0003-3691-0324 reduced thickness of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells decreased retina inner nuclear layer thickness decreased retinal INL thickness decreased retinal inner nuclear layer thickness reduced retina inner nuclear layer thickness reduced retinal inner nuclear layer thickness thin retinal inner nuclear layer MPheno.ontology MP:0008511 thin retina inner nuclear layer MP:0008511 reduced thickness of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells https://orcid.org/0009-0005-7755-8314 derangement of the normal pattern of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells disorganised retinal INL disorganized retinal inner nuclear layer MPheno.ontology MP:0008512 disorganized retina inner nuclear layer MP:0008512 derangement of the normal pattern of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells https://orcid.org/0009-0005-7755-8314 reduced thickness of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites decreased retina inner plexiform layer thickness decreased retinal inner plexiform layer thickness reduced retina inner plexiform layer thickness reduced retinal inner plexiform layer thickness thin retina IPL thin retinal IPL thin retinal inner plexiform layer MPheno.ontology MP:0008513 thin retina inner plexiform layer MP:0008513 reduced thickness of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites https://orcid.org/0009-0005-7755-8314 absence of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites absent retina IPL absent retinal IPL absent retinal inner plexiform layer MPheno.ontology MP:0008514 absent retina inner plexiform layer MP:0008514 absence of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites https://orcid.org/0009-0005-7755-8314 reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones decreased retina ONL thickness decreased retina outer nuclear layer thickness decreased retinal ONL thickness decreased retinal outer nuclear layer thickness reduced retina ONL thickness reduced retina outer nuclear layer thickness reduced retinal ONL thickness reduced retinal outer nuclear layer thickness thin retinal outer nuclear layer MPheno.ontology MP:0008515 thin retina outer nuclear layer MP:0008515 reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones https://orcid.org/0009-0005-7755-8314 derangement of the normal pattern of the retinal layer that contains the nuclei and cell bodies of rods and cones disorganised retina ONL disorganized retinal ONL disorganized retinal outer nuclear layer MPheno.ontology MP:0008516 disorganized retina outer nuclear layer MP:0008516 derangement of the normal pattern of the retinal layer that contains the nuclei and cell bodies of rods and cones https://orcid.org/0009-0005-7755-8314 increased thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones increased retina outer nuclear layer thickness increased retinal outer nuclear layer thickness thick retinal outer nuclear layer MPheno.ontology MP:0008517 thick retina outer nuclear layer MP:0008517 increased thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones https://orcid.org/0009-0005-7755-8314 a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones retina ONL degeneration retinal ONL degeneration retinal outer nuclear layer degeneration MPheno.ontology MP:0008518 retina outer nuclear layer degeneration MP:0008518 a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones https://orcid.org/0009-0005-7755-8314 reduced thickness of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites) decreased retina OPL thickness decreased retina outer plexiform layer thickness decreased retinal OPL thickness decreased retinal outer plexiform layer thickness reduced retina OPL thickness reduced retinal OPL thickness thin retina OPL thin retinal OPL thin retinal outer plexiform layer MPheno.ontology MP:0008519 thin retina outer plexiform layer MP:0008519 reduced thickness of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites) https://orcid.org/0009-0005-7755-8314 a derangement of the normal pattern of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites) disorganised retina OPL disorganized retinal OPL disorganized retinal outer plexiform layer MPheno.ontology MP:0008520 disorganized retina outer plexiform layer MP:0008520 a derangement of the normal pattern of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites) https://orcid.org/0009-0005-7755-8314 any structural anomaly of the layer of acellular matrix that lies beneath the corneal epithelium and above the corneal stroma, consists of randomly arranged collagen fibers in a condensed bed of intercellular substance, and provides stability and strength to the cornea abnormal Bowman's membrane MPheno.ontology MP:0008521 abnormal Bowman membrane morphology MP:0008521 any structural anomaly of the layer of acellular matrix that lies beneath the corneal epithelium and above the corneal stroma, consists of randomly arranged collagen fibers in a condensed bed of intercellular substance, and provides stability and strength to the cornea MESH:A09.371.060.217.113 any structural anomaly of the area of the lymph node secondary follicle where antigen-activated B-cell blasts are stimulated by antigens and proliferate, with the immunoglobulin genes undergoing somatic hypermutation, before the cells migrate away as plasma cells or memory cells abnormal lymph node germinal centre morphology MPheno.ontology MP:0008522 Germinal centers are often identified by the binding of peanut agglutinin (PNA). abnormal lymph node germinal center morphology MP:0008522 any structural anomaly of the area of the lymph node secondary follicle where antigen-activated B-cell blasts are stimulated by antigens and proliferate, with the immunoglobulin genes undergoing somatic hypermutation, before the cells migrate away as plasma cells or memory cells PMID:11905817 absence of the area of the lymph node secondary follicle where antigen-activated B-cell blasts are stimulated by antigens and proliferate, with the immunoglobulin genes undergoing somatic hypermutation, before the cells migrate away as plasma cells or memory cells absent lymph node germinal centre MPheno.ontology MP:0008523 Germinal centers are often identified by the binding of peanut agglutinin (PNA). absent lymph node germinal center MP:0008523 absence of the area of the lymph node secondary follicle where antigen-activated B-cell blasts are stimulated by antigens and proliferate, with the immunoglobulin genes undergoing somatic hypermutation, before the cells migrate away as plasma cells or memory cells PMID:11905817 greater number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli increased DC2 cell number increased PDC cell number increased T-associated plasma cells cell number increased lymphoid dendritic cell number increased pDC cell number increased plasmacytoid T cell number increased plasmacytoid monocytes cell number MPheno.ontology MP:0008524 increased plasmacytoid dendritic cell number MP:0008524 greater number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli PMID:15596797 https://orcid.org/0000-0003-3691-0324 decrease in the rostral-caudal distance between the cranial base and the upper domelike portion of the skull MP:0000442 reduced cranium height MPheno.ontology decreased skull height longitudinally short skull MP:0008525 decreased cranium height MP:0008525 decrease in the rostral-caudal distance between the cranial base and the upper domelike portion of the skull https://orcid.org/0000-0003-3691-0324 having a decreased side-to-side, or lateral distance of the cranium reduced cranium width MPheno.ontology decreased skull width reduced skull width MP:0008526 decreased cranium width MP:0008526 having a decreased side-to-side, or lateral distance of the cranium https://orcid.org/0000-0003-3691-0324 death due to failure of implantation (Mus: E4.5) MPheno.ontology MP:0008527 embryonic lethality at implantation MP:0008527 death due to failure of implantation (Mus: E4.5) MGI:llw2 presence of multiple fluid-filled cysts in one or both kidneys Fyler:4508 multiple renal cysts multicystic kidney dysplasia polycystic kidneys MPheno.ontology polycystic kidney disease MP:0008528 polycystic kidney MP:0008528 presence of multiple fluid-filled cysts in one or both kidneys MGI:llw2 increased size of the second cranial nerve which is responsible for conveying visual information from the retina to the brain; it extends from the retina to the optic chiasma where part of its fibers become the optic tract and cross to the opposite side and pass to the geniculate bodies increased optic nerve size MPheno.ontology MP:0008529 enlarged optic nerve MP:0008529 increased size of the second cranial nerve which is responsible for conveying visual information from the retina to the brain; it extends from the retina to the optic chiasma where part of its fibers become the optic tract and cross to the opposite side and pass to the geniculate bodies https://orcid.org/0000-0003-3691-0324 anomaly in the developmental pattern of the somites along the axis that runs from the rostral to the caudal region of the body MPheno.ontology MP:0008530 abnormal rostral-caudal patterning of the somites MP:0008530 anomaly in the developmental pattern of the somites along the axis that runs from the rostral to the caudal region of the body https://orcid.org/0000-0003-3691-0324 a greater than average concentration at which chemically induced pain sensation is first detectable chemical hypoalgesia MPheno.ontology MP:0008531 increased chemical nociceptive threshold MP:0008531 a greater than average concentration at which chemically induced pain sensation is first detectable https://orcid.org/0000-0003-3691-0324 a lower than average concentration at which chemically induced pain sensation is first detectable reduced chemical nociceptive threshold MPheno.ontology chemical hyperalgesia MP:0008532 decreased chemical nociceptive threshold MP:0008532 a lower than average concentration at which chemically induced pain sensation is first detectable https://orcid.org/0000-0003-3691-0324 any structural anomaly of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue abnormal AVE MPheno.ontology MP:0008533 abnormal anterior visceral endoderm morphology MP:0008533 any structural anomaly of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue PMID:17078044 increased size of the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space enlarged 4th ventricle enlarged IVth ventricle enlarged rhombencephalic ventricle enlarged ventricle of rhombencephalon enlarged ventriculus quartus increased fourth ventricle size MPheno.ontology MP:0008534 enlarged fourth ventricle MP:0008534 increased size of the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space MESH:A08.186.211.276.500 https://orcid.org/0000-0003-3691-0324 increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle increased lateral ventricle size MPheno.ontology MP:0008535 enlarged lateral ventricles MP:0008535 increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle MESH:A08.186.211.276.650 https://orcid.org/0000-0003-3691-0324 increased size of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina enlarged 3rd ventricle enlarged ventriculus tertius increased third ventricle size MPheno.ontology increased ventriculus tertius size MP:0008536 enlarged third ventricle MP:0008536 increased size of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina MESH:A08.186.211.276.840 https://orcid.org/0000-0003-3691-0324 increased severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) decreased resistance to induced colitis MPheno.ontology MP:0008537 increased susceptibility to induced colitis MP:0008537 increased severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) https://orcid.org/0000-0003-3691-0324 reduced number of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla decreased amount of zigzag hair reduced amount of zigzag hair MPheno.ontology MP:0008538 decreased zigzag hair amount MP:0008538 reduced number of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla ISBN:0-8493-8372-2 MGI:llw2 decreased severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) increased resistance to induced colitis reduced susceptibility to induced colitis MPheno.ontology MP:0008539 decreased susceptibility to induced colitis MP:0008539 decreased severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) https://orcid.org/0000-0003-3691-0324 any structural anomaly of the largest part of the brain; the cerebrum is composed of a right and a left hemisphere each which contains an outer cerebral cortex and a subcortical basal ganglia; cerebral functions include sensorimotor, emotional, and intellectual activities abnormal cerebral hemispheres morphology abnormal cerebrum morphology cerebrum dysplasia MPheno.ontology MP:0008540 abnormal cerebral hemisphere morphology MP:0008540 any structural anomaly of the largest part of the brain; the cerebrum is composed of a right and a left hemisphere each which contains an outer cerebral cortex and a subcortical basal ganglia; cerebral functions include sensorimotor, emotional, and intellectual activities MESH:A08.186.211.730.885.287 abnormal intravascular leukocyte aggregation and clumping most commonly seen in the brain and lungs of organisms with leukemia, often with an excess of leukocytes in the blood leucostasis MPheno.ontology MP:0008541 leukostasis MP:0008541 abnormal intravascular leukocyte aggregation and clumping most commonly seen in the brain and lungs of organisms with leukemia, often with an excess of leukocytes in the blood MESH:C15.378.553.560 increased size of the lymph nodes found near the neck and shoulders increased cervical lymph node size MPheno.ontology cervical lymphoadenopathy MP:0008542 enlarged cervical lymph nodes MP:0008542 increased size of the lymph nodes found near the neck and shoulders https://orcid.org/0000-0003-3691-0324 asynchronous contraction or quivering of individual cardiac muscle fibers in the atria MPheno.ontology MP:0008543 atrial fibrillation MP:0008543 asynchronous contraction or quivering of individual cardiac muscle fibers in the atria https://orcid.org/0000-0003-3691-0324 reduced ability to detect odors hyposmia partial anosmia MPheno.ontology MP:0008544 impaired olfaction MP:0008544 reduced ability to detect odors https://orcid.org/0000-0003-4606-0597 absence of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility absent sperm flagella absent sperm tail MPheno.ontology MP:0008545 absent sperm flagellum MP:0008545 absence of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility MESH:A05.360.490.890.840 anomaly in the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell abnormal vesicle trafficking abnormal vesicle transport abnormal vesicular trafficking abnormal vesicular transport MPheno.ontology MP:0008546 abnormal vesicle-mediated transport MP:0008546 anomaly in the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell GO:0016192 any structural anomaly of the larger part of the mammalian cerebral cortex, distinguished from the allocortex by being composed of a larger number of nerve cells arranged in six layers abnormal homotypic cortex morphology abnormal homotypical cortex morphology abnormal isocortex morphology abnormal neopallium morphology abnormal nonolfactory cortex morphology MPheno.ontology MP:0008547 abnormal neocortex morphology MP:0008547 any structural anomaly of the larger part of the mammalian cerebral cortex, distinguished from the allocortex by being composed of a larger number of nerve cells arranged in six layers ISBN:0-683-40008-8 MESH:A08.186.211.730.885.213.420 anomaly in the amount in the blood of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions abnormal circulating IFN level MPheno.ontology MP:0008548 abnormal circulating interferon level MP:0008548 anomaly in the amount in the blood of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions MESH:D12.644.276.374.440 anomaly in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells abnormal circulating IFN-alpha level abnormal circulating alpha-IFN level abnormal circulating alpha-Interferon level MPheno.ontology MP:0008549 abnormal circulating interferon-alpha level MP:0008549 anomaly in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells MESH:D12.644.276.374.440.890.250 anomaly in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity abnormal circulating IFN-beta level abnormal circulating beta-IFN level abnormal circulating beta-interferon level MPheno.ontology MP:0008550 abnormal circulating interferon-beta level MP:0008550 anomaly in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity MESH:D12.644.276.374.440.890.275 anomaly in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation abnormal circulating IFN-gamma level abnormal circulating gamma-IFN level abnormal circulating gamma-interferon level abnormal circulating interferon type II level MPheno.ontology MP:0008551 abnormal circulating interferon-gamma level MP:0008551 anomaly in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation MESH:D12.644.276.374.440.893 anomaly in the amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium abnormal circulating TNFA level abnormal circulating cachectin level abnormal circulating tumor necrosis factor alpha level abnormal circulating tumour necrosis factor alpha level abnormal circulating tumour necrosis factor level MPheno.ontology abnormal circulating TNF level MP:0008552 abnormal circulating tumor necrosis factor level MP:0008552 anomaly in the amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium ISBN:0-8153-1691-7 MESH:D12.644.276.374.500.800 greater amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium increased circulating TNFA level increased circulating cachectin level increased circulating tumor necrosis factor alpha level increased circulating tumour necrosis factor alpha level increased circulating tumour necrosis factor level MPheno.ontology increased circulating TNF level MP:0008553 increased circulating tumor necrosis factor level MP:0008553 greater amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium ISBN:0-8153-1691-7 MESH:D12.644.276.374.500.800 reduction in the amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium decreased circulating TNF level decreased circulating TNFA level decreased circulating cachectin level decreased circulating tumor necrosis factor alpha level decreased circulating tumour necrosis factor alpha level decreased circulating tumour necrosis factor level reduced circulating TNF level reduced circulating TNFA level reduced circulating cachectin level reduced circulating tumor necrosis factor alpha level reduced circulating tumor necrosis factor level reduced circulating tumour necrosis factor alpha level reduced circulating tumour necrosis factor level MPheno.ontology MP:0008554 decreased circulating tumor necrosis factor level MP:0008554 reduction in the amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium ISBN:0-8153-1691-7 MESH:D12.644.276.374.500.800 anomaly in the production or release of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions abnormal IFN secretion MPheno.ontology MP:0008555 abnormal interferon secretion MP:0008555 anomaly in the production or release of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions MESH:D12.644.276.374.440 anomaly in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium abnormal TNF secretion abnormal TNFA secretion abnormal cachectin secretion abnormal tumor necrosis factor alpha secretion abnormal tumour necrosis factor alpha secretion abnormal tumour necrosis factor secretion MPheno.ontology MP:0008556 abnormal tumor necrosis factor secretion MP:0008556 anomaly in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium ISBN:0-8153-1691-7 MESH:D12.644.276.374.500.800 anomaly in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells abnormal IFN-alpha secretion abnormal alpha-IFN secretion abnormal alpha-Interferon secretion MPheno.ontology MP:0008557 abnormal interferon-alpha secretion MP:0008557 anomaly in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells MESH:D12.644.276.374.440.890.250 anomaly in the production or release of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity abnormal IFN-beta secretion abnormal beta-IFN secretion abnormal beta-interferon secretion MPheno.ontology MP:0008558 abnormal interferon-beta secretion MP:0008558 anomaly in the production or release of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity MESH:D12.644.276.374.440.890.275 anomaly in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation abnormal IFN-gamma secretion abnormal gamma-IFN secretion abnormal gamma-interferon secretion abnormal interferon type II secretion MPheno.ontology MP:0008559 abnormal interferon-gamma secretion MP:0008559 anomaly in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation MESH:D12.644.276.374.440.893 increase in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium increased TNF secretion increased TNFA secretion increased cachectin secretion increased tumor necrosis factor alpha secretion increased tumour necrosis factor alpha secretion increased tumour necrosis factor secretion MPheno.ontology MP:0008560 increased tumor necrosis factor secretion MP:0008560 increase in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium ISBN:0-8153-1691-7 MESH:D12.644.276.374.500.800 reduction in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium decreased TNF secretion decreased TNFA secretion decreased cachectin secretion decreased tumor necrosis factor alpha secretion decreased tumour necrosis factor alpha secretion decreased tumour necrosis factor secretion reduced TNF secretion reduced TNFA secretion reduced cachectin secretion reduced tumor necrosis factor alpha secretion reduced tumour necrosis factor alpha secretion MPheno.ontology MP:0008561 decreased tumor necrosis factor secretion MP:0008561 reduction in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium ISBN:0-8153-1691-7 MESH:D12.644.276.374.500.800 increase in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells increased IFN-alpha secretion increased alpha-IFN secretion increased alpha-Interferon secretion MPheno.ontology MP:0008562 increased interferon-alpha secretion MP:0008562 increase in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells MESH:D12.644.276.374.440.890.250 decrease in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells decreased IFN-alpha secretion decreased alpha-IFN secretion decreased alpha-Interferon secretion reduced IFN-alpha secretion reduced alpha-IFN secretion reduced alpha-Interferon secretion MPheno.ontology MP:0008563 decreased interferon-alpha secretion MP:0008563 decrease in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells MESH:D12.644.276.374.440.890.250 increase in the production or release of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity increased IFN-beta secretion increased beta-IFN secretion increased beta-interferon secretion MPheno.ontology MP:0008564 increased interferon-beta secretion MP:0008564 increase in the production or release of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity MESH:D12.644.276.374.440.890.275 reduction in the production or release of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity decreased IFN-beta secretion decreased beta-IFN secretion decreased beta-interferon secretion reduced IFN-beta secretion reduced beta-IFN secretion reduced beta-interferon secretion MPheno.ontology MP:0008565 decreased interferon-beta secretion MP:0008565 reduction in the production or release of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity MESH:D12.644.276.374.440.890.275 increase in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation increased IFN-gamma secretion increased gamma-IFN secretion increased gamma-interferon secretion increased interferon type II secretion MPheno.ontology MP:0008566 increased interferon-gamma secretion MP:0008566 increase in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation MESH:D12.644.276.374.440.893 reduction in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation decreased IFN-gamma secretion decreased gamma-IFN secretion decreased gamma-interferon secretion decreased interferon type II secretion reduced IFN-gamma secretion reduced gamma-IFN secretion reduced gamma-interferon secretion reduced interferon type II secretion MPheno.ontology MP:0008567 decreased interferon-gamma secretion MP:0008567 reduction in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation MESH:D12.644.276.374.440.893 anomaly in the production or cellular release of soluble factors which stimulate growth-related activities of leukocytes and other cell types, that can act to enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli MPheno.ontology MP:0008568 abnormal interleukin secretion MP:0008568 anomaly in the production or cellular release of soluble factors which stimulate growth-related activities of leukocytes and other cell types, that can act to enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli MESH:D12.644.276.374.465 premature death at weaning age, often due to the inability to make the transition to solid food weanling lethality MPheno.ontology MP:0008569 lethality at weaning MP:0008569 premature death at weaning age, often due to the inability to make the transition to solid food MGI:llw2 https://orcid.org/0000-0003-3691-0324 abnormal fat metabolism with increased accumulation of specific lipids in tissue MPheno.ontology MP:0008570 lipidosis MP:0008570 abnormal fat metabolism with increased accumulation of specific lipids in tissue MGI:llw2 any structural anomaly of the knoblike enlargements along the course of axons, or more commonly at the distal terminations of axons which are specialized for the release of neurotransmitters abnormal axon terminal morphology abnormal pre-synaptic terminal morphology abnormal presynaptic terminal morphology MPheno.ontology MP:0008571 abnormal synaptic bouton morphology MP:0008571 any structural anomaly of the knoblike enlargements along the course of axons, or more commonly at the distal terminations of axons which are specialized for the release of neurotransmitters MESH:A08.663.542.145.750 any structural anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer abnormal Purkinje cell dendrites abnormal Purkinje cell dendritic arbor MPheno.ontology MP:0008572 abnormal Purkinje cell dendrite morphology MP:0008572 any structural anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer https://orcid.org/0000-0003-3691-0324 increase in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells increased circulating IFN-alpha level increased circulating alpha-IFN level increased circulating alpha-Interferon level MPheno.ontology MP:0008573 increased circulating interferon-alpha level MP:0008573 increase in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells MESH:D12.644.276.374.440.890.250 reduction in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells decreased circulating IFN-alpha level decreased circulating alpha-IFN level decreased circulating alpha-Interferon level reduced circulating IFN-alpha level reduced circulating alpha-IFN level reduced circulating alpha-Interferon level MPheno.ontology MP:0008574 decreased circulating interferon-alpha level MP:0008574 reduction in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells MESH:D12.644.276.374.440.890.250 increase in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity increased circulating IFN-beta level increased circulating beta-IFN level increased circulating beta-interferon level MPheno.ontology MP:0008575 increased circulating interferon-beta level MP:0008575 increase in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity MESH:D12.644.276.374.440.890.275 reduction in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity decreased circulating IFN-beta level decreased circulating beta-IFN level decreased circulating beta-interferon level reduced circulating IFN-beta level reduced circulating beta-IFN level reduced circulating beta-interferon level MPheno.ontology MP:0008576 decreased circulating interferon-beta level MP:0008576 reduction in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity MESH:D12.644.276.374.440.890.275 increase in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation increased circulating IFN-gamma level increased circulating gamma-IFN level increased circulating gamma-interferon level increased circulating interferon type II level MPheno.ontology MP:0008577 increased circulating interferon-gamma level MP:0008577 increase in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation MESH:D12.644.276.374.440.893 reduction in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation decreased circulating IFN-gamma level decreased circulating gamma-IFN level decreased circulating gamma-interferon level decreased circulating interferon type II level reduced circulating IFN-gamma level reduced circulating gamma-IFN level reduced circulating gamma-interferon level reduced circulating interferon type II level MPheno.ontology MP:0008578 decreased circulating interferon-gamma level MP:0008578 reduction in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation MESH:D12.644.276.374.440.893 atypical production of or inability to produce the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex MPheno.ontology MP:0008579 abnormal Purkinje cell differentiation MP:0008579 atypical production of or inability to produce the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex ISBN:0838580343 retrogressive pathologic change in the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region MPheno.ontology MP:0008580 photoreceptor inner segment degeneration MP:0008580 retrogressive pathologic change in the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region https://orcid.org/0000-0003-3691-0324 derangement of the pattern of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region disorganised photoreceptor inner segment MPheno.ontology MP:0008581 disorganized photoreceptor inner segment MP:0008581 derangement of the pattern of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region https://orcid.org/0000-0003-3691-0324 decreased length of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region decreased photoreceptor inner segment length reduced photoreceptor inner segment length MPheno.ontology MP:0008582 short photoreceptor inner segment MP:0008582 decreased length of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region https://orcid.org/0000-0003-3691-0324 absence of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region MPheno.ontology MP:0008583 absent photoreceptor inner segment MP:0008583 absence of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region https://orcid.org/0000-0003-3691-0324 retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin MPheno.ontology MP:0008584 photoreceptor outer segment degeneration MP:0008584 retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin https://orcid.org/0000-0003-3691-0324 absence of the photoreceptor region that is rich in the visual pigment rhodopsin MPheno.ontology MP:0008585 absent photoreceptor outer segment MP:0008585 absence of the photoreceptor region that is rich in the visual pigment rhodopsin https://orcid.org/0000-0003-3691-0324 derangement of the pattern of the photoreceptor region that is rich in the visual pigment rhodopsin disorganised photoreceptor outer segment MPheno.ontology MP:0008586 disorganized photoreceptor outer segment MP:0008586 derangement of the pattern of the photoreceptor region that is rich in the visual pigment rhodopsin https://orcid.org/0000-0003-3691-0324 decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin decreased photoreceptor outer segment length MPheno.ontology MP:0008587 short photoreceptor outer segment MP:0008587 decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin https://orcid.org/0000-0003-3691-0324 anomaly in the amount in the blood of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types; they enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli abnormal circulating IL level MPheno.ontology MP:0008588 abnormal circulating interleukin level MP:0008588 anomaly in the amount in the blood of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types; they enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli MESH:D12.644.276.374.465 anomaly in the amount in the blood of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens abnormal circulating IL-1 level abnormal circulating T helper factor level abnormal circulating epidermal cell derived thymocyte-activating factor level abnormal circulating interleukin I level abnormal circulating lymphocyte-activating factor level abnormal circulating macrophage cell factor level MPheno.ontology MP:0008589 abnormal circulating interleukin-1 level MP:0008589 anomaly in the amount in the blood of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens MESH:D12.644.276.374.465.501 anomaly in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation abnormal circulating CSIF-10 level abnormal circulating IL-10 level abnormal circulating IL10 level abnormal circulating cytokine synthesis inhibitory factor level MPheno.ontology MP:0008590 abnormal circulating interleukin-10 level MP:0008590 anomaly in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation MESH:D12.644.276.374.465.510 increase in the amount in the blood of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens increased circulating IL-1 level increased circulating T helper factor level increased circulating epidermal cell derived thymocyte-activating factor level increased circulating interleukin I level increased circulating lymphocyte-activating factor level increased circulating macrophage cell factor level MPheno.ontology MP:0008591 increased circulating interleukin-1 level MP:0008591 increase in the amount in the blood of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens MESH:D12.644.276.374.465.501 reduction in the amount in the blood of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens decreased circulating IL-1 level decreased circulating T helper factor level decreased circulating epidermal cell derived thymocyte-activating factor level decreased circulating interleukin I level decreased circulating lymphocyte-activating factor level decreased circulating macrophage cell factor level reduced circulating IL-1 level reduced circulating T helper factor level reduced circulating epidermal cell derived thymocyte-activating factor level reduced circulating interleukin I level reduced circulating lymphocyte-activating factor level reduced circulating macrophage cell factor level MPheno.ontology MP:0008592 decreased circulating interleukin-1 level MP:0008592 reduction in the amount in the blood of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens MESH:D12.644.276.374.465.501 increase in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation increased circulating CSIF-10 level increased circulating IL-10 level increased circulating IL10 level increased circulating cytokine synthesis inhibitory factor level MPheno.ontology MP:0008593 increased circulating interleukin-10 level MP:0008593 increase in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation MESH:D12.644.276.374.465.510 reduction in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation decreased circulating CSIF-10 level decreased circulating IL-10 level decreased circulating IL10 level decreased circulating cytokine synthesis inhibitory factor level reduced circulating CSIF-10 level reduced circulating IL-10 level reduced circulating IL10 level reduced circulating cytokine synthesis inhibitory factor level MPheno.ontology MP:0008594 decreased circulating interleukin-10 level MP:0008594 reduction in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation MESH:D12.644.276.374.465.510 anomaly in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts abnormal circulating B cell stimulatory factor-2 level abnormal circulating B-cell differentiation factor level abnormal circulating B-cell differentiation factor-2 level abnormal circulating B-cell stimulatory factor 2 level abnormal circulating B-cell stimulatory factor-2 level abnormal circulating BSF-2 level abnormal circulating IFN-beta 2 level abnormal circulating IL-6 level abnormal circulating IL6 level abnormal circulating MGI-2 level abnormal circulating hepatocyte-stimulating factor level abnormal circulating hybridoma growth factor level abnormal circulating myeloid differentiation-inducing protein level abnormal circulating plasmacytoma growth factor level MPheno.ontology MP:0008595 abnormal circulating interleukin-6 level MP:0008595 anomaly in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts MESH:D12.644.276.374.465.506 increase in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts increased circulating B cell stimulatory factor-2 level increased circulating B-cell differentiation factor level increased circulating B-cell differentiation factor-2 level increased circulating B-cell stimulatory factor 2 level increased circulating B-cell stimulatory factor-2 level increased circulating BSF-2 level increased circulating IFN-beta 2 level increased circulating IL-6 level increased circulating IL6 level increased circulating MGI-2 level increased circulating hepatocyte-stimulating factor level increased circulating hybridoma growth factor level increased circulating myeloid differentiation-inducing protein level increased circulating plasmacytoma growth factor level MPheno.ontology MP:0008596 increased circulating interleukin-6 level MP:0008596 increase in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts MESH:D12.644.276.374.465.506 reduction in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts decreased circulating B cell stimulatory factor-2 level decreased circulating B-cell differentiation factor level decreased circulating B-cell differentiation factor-2 level decreased circulating B-cell stimulatory factor 2 level decreased circulating B-cell stimulatory factor-2 level decreased circulating BSF-2 level decreased circulating IFN-beta 2 level decreased circulating IL-6 level decreased circulating IL6 level decreased circulating MGI-2 level decreased circulating hepatocyte-stimulating factor level decreased circulating hybridoma growth factor level decreased circulating myeloid differentiation-inducing protein level decreased circulating plasmacytoma growth factor level reduced circulating B cell stimulatory factor-2 level reduced circulating B-cell differentiation factor level reduced circulating B-cell differentiation factor-2 level reduced circulating B-cell stimulatory factor 2 level reduced circulating B-cell stimulatory factor-2 level reduced circulating BSF-2 level reduced circulating IFN-beta 2 level reduced circulating IL-6 level reduced circulating IL6 level reduced circulating MGI-2 level reduced circulating hepatocyte-stimulating factor level reduced circulating hybridoma growth factor level reduced circulating myeloid differentiation-inducing protein level reduced circulating plasmacytoma growth factor level MPheno.ontology MP:0008597 decreased circulating interleukin-6 level MP:0008597 reduction in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts MESH:D12.644.276.374.465.506 anomaly in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes abnormal circulating IL-2 level abnormal circulating IL2 level abnormal circulating RU 49637 level abnormal circulating RU-49637 level abnormal circulating Ro-23-6019 level abnormal circulating Ro-236019 level abnormal circulating T-cell growth factor level abnormal circulating T-cell stimulating factor level abnormal circulating TCGF level abnormal circulating interleukin II level abnormal circulating interleukine 2 level abnormal circulating lymphocyte mitogenic factor level abnormal circulating thymocyte stimulating factor level MPheno.ontology MP:0008598 abnormal circulating interleukin-2 level MP:0008598 anomaly in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes MESH:D12.644.276.374.465.502 increase in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes increased circulating IL-2 level increased circulating IL2 level increased circulating RU 49637 level increased circulating RU-49637 level increased circulating Ro-23-6019 level increased circulating Ro-236019 level increased circulating T-cell growth factor level increased circulating T-cell stimulating factor level increased circulating TCGF level increased circulating interleukin II level increased circulating interleukine 2 level increased circulating lymphocyte mitogenic factor level increased circulating thymocyte stimulating factor level MPheno.ontology MP:0008599 increased circulating interleukin-2 level MP:0008599 increase in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes MESH:D12.644.276.374.465.502 reduction in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes decreased circulating IL-2 level decreased circulating IL2 level decreased circulating RU 49637 level decreased circulating RU-49637 level decreased circulating Ro-23-6019 level decreased circulating Ro-236019 level decreased circulating T-cell growth factor level decreased circulating T-cell stimulating factor level decreased circulating TCGF level decreased circulating interleukin II level decreased circulating interleukine 2 level decreased circulating lymphocyte mitogenic factor level decreased circulating thymocyte stimulating factor level reduced circulating IL-2 level reduced circulating IL2 level reduced circulating RU 49637 level reduced circulating RU-49637 level reduced circulating Ro-23-6019 level reduced circulating Ro-236019 level reduced circulating T-cell growth factor level reduced circulating T-cell stimulating factor level reduced circulating TCGF level reduced circulating interleukin II level reduced circulating interleukine 2 level reduced circulating lymphocyte mitogenic factor level reduced circulating thymocyte stimulating factor level MPheno.ontology MP:0008600 decreased circulating interleukin-2 level MP:0008600 reduction in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes MESH:D12.644.276.374.465.502 anomaly in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells abnormal circulating B cell stimulatory factor-1 level abnormal circulating B-cell growth factor-1 level abnormal circulating B-cell growth factor-I level abnormal circulating B-cell proliferating factor level abnormal circulating B-cell stimulating factor-1 level abnormal circulating B-cell stimulatory factor 1 level abnormal circulating B-cell stimulatory factor-1 level abnormal circulating BCGF-1 level abnormal circulating BSF-1 level abnormal circulating Binetrakin level abnormal circulating IL-4 level abnormal circulating IL4 level abnormal circulating MCGF-2 level abnormal circulating mast cell growth factor-2 level MPheno.ontology MP:0008601 abnormal circulating interleukin-4 level MP:0008601 anomaly in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells MESH:D12.644.276.374.465.504 increase in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells increased circulating B cell stimulatory factor-1 level increased circulating B-cell growth factor-1 level increased circulating B-cell growth factor-I level increased circulating B-cell proliferating factor level increased circulating B-cell stimulating factor-1 level increased circulating B-cell stimulatory factor 1 level increased circulating B-cell stimulatory factor-1 level increased circulating BCGF-1 level increased circulating BSF-1 level increased circulating Binetrakin level increased circulating IL-4 level increased circulating IL4 level increased circulating MCGF-2 level increased circulating mast cell growth factor-2 level MPheno.ontology MP:0008602 increased circulating interleukin-4 level MP:0008602 increase in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells MESH:D12.644.276.374.465.504 reduction in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells decreased circulating B cell stimulatory factor-1 level decreased circulating B-cell growth factor-1 level decreased circulating B-cell growth factor-I level decreased circulating B-cell proliferating factor level decreased circulating B-cell stimulating factor-1 level decreased circulating B-cell stimulatory factor 1 level decreased circulating B-cell stimulatory factor-1 level decreased circulating BCGF-1 level decreased circulating BSF-1 level decreased circulating Binetrakin level decreased circulating IL-4 level decreased circulating IL4 level decreased circulating MCGF-2 level decreased circulating mast cell growth factor-2 level reduced circulating B cell stimulatory factor-1 level reduced circulating B-cell growth factor-1 level reduced circulating B-cell growth factor-I level reduced circulating B-cell proliferating factor level reduced circulating B-cell stimulating factor-1 level reduced circulating B-cell stimulatory factor 1 level reduced circulating B-cell stimulatory factor-1 level reduced circulating BCGF-1 level reduced circulating BSF-1 level reduced circulating Binetrakin level reduced circulating IL-4 level reduced circulating IL4 level reduced circulating MCGF-2 level reduced circulating mast cell growth factor-2 level MPheno.ontology MP:0008603 decreased circulating interleukin-4 level MP:0008603 reduction in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells MESH:D12.644.276.374.465.504 anomaly in the amount in the blood of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation abnormal circulating IL-7 level abnormal circulating IL7 level abnormal circulating lymphopoietin-1 level MPheno.ontology MP:0008604 abnormal circulating interleukin-7 level MP:0008604 anomaly in the amount in the blood of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation MESH:D12.644.276.374.465.507 increase in the amount in the blood of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation increased circulating IL-7 level increased circulating IL7 level increased circulating lymphopoietin-1 level MPheno.ontology MP:0008605 increased circulating interleukin-7 level MP:0008605 increase in the amount in the blood of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation MESH:D12.644.276.374.465.507 reduction in the amount in the blood of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation decreased circulating IL-7 level decreased circulating IL7 level decreased circulating lymphopoietin-1 level reduced circulating IL-7 level reduced circulating IL7 level reduced circulating lymphopoietin-1 level MPheno.ontology MP:0008606 decreased circulating interleukin-7 level MP:0008606 reduction in the amount in the blood of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation MESH:D12.644.276.374.465.507 anomaly in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses abnormal circulating IL-13 level abnormal circulating IL13 level MPheno.ontology MP:0008607 abnormal circulating interleukin-13 level MP:0008607 anomaly in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses MESH:D12.644.276.374.465.513 increase in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses increased circulating IL-13 level increased circulating IL13 level MPheno.ontology MP:0008608 increased circulating interleukin-13 level MP:0008608 increase in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses MESH:D12.644.276.374.465.513 reduction in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses decreased circulating IL-13 level decreased circulating IL13 level reduced circulating IL-13 level reduced circulating IL13 level MPheno.ontology MP:0008609 decreased circulating interleukin-13 level MP:0008609 reduction in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses MESH:D12.644.276.374.465.513 anomaly in the amount in the blood of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 abnormal circulating IL-15 level abnormal circulating IL15 level MPheno.ontology MP:0008610 abnormal circulating interleukin-15 level MP:0008610 anomaly in the amount in the blood of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 MESH:D12.644.276.374.465.515 increase in the amount in the blood of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 increased circulating IL-15 level increased circulating IL15 level MPheno.ontology MP:0008611 increased circulating interleukin-15 level MP:0008611 increase in the amount in the blood of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 MESH:D12.644.276.374.465.515 reduction in the amount in the blood of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 decreased circulating IL-15 level decreased circulating IL15 level reduced circulating IL-15 level reduced circulating IL15 level MPheno.ontology MP:0008612 decreased circulating interleukin-15 level MP:0008612 reduction in the amount in the blood of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 MESH:D12.644.276.374.465.515 anomaly in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors abnormal circulating IL-17 level abnormal circulating IL17 level abnormal circulating CTLA-8 level abnormal circulating CTLA8 level abnormal circulating ML-1 level abnormal circulating cytokine CX2 level abnormal circulating cytotoxic T lymphocyte-associated antigen 8 level MPheno.ontology MP:0008613 Several subtypes of interleukin-17 have been identified, each of which is a product of a unique gene. abnormal circulating interleukin-17 level MP:0008613 anomaly in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors MESH:D12.644.276.374.465.517 increase in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors increased circulating IL-17 level increased circulating IL17 level increased circulating CTLA-8 level increased circulating CTLA8 level increased circulating ML-1 level increased circulating cytokine CX2 level increased circulating cytotoxic T lymphocyte-associated antigen 8 level MPheno.ontology MP:0008614 Several subtypes of interleukin-17 have been identified, each of which is a product of a unique gene. increased circulating interleukin-17 level MP:0008614 increase in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors MESH:D12.644.276.374.465.517 reduction in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors decreased circulating IL-17 level decreased circulating IL17 level reduced circulating IL-17 level reduced circulating IL17 level decreased circulating CTLA-8 level decreased circulating CTLA8 level decreased circulating ML-1 level decreased circulating cytokine CX2 level decreased circulating cytotoxic T lymphocyte-associated antigen 8 level reduced circulating CTLA-8 level reduced circulating CTLA8 level reduced circulating ML-1 level reduced circulating cytokine CX2 level reduced circulating cytotoxic T lymphocyte-associated antigen 8 level MPheno.ontology MP:0008615 Several subtypes of interleukin-17 have been identified, each of which is a product of a unique gene. decreased circulating interleukin-17 level MP:0008615 reduction in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors MESH:D12.644.276.374.465.517 anomaly in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells abnormal circulating IL-12 level abnormal circulating IL-12 p70 level abnormal circulating IL12 level abnormal circulating cytotoxic lymphocyte maturation factor level abnormal circulating interleukin-12 p70 level abnormal circulating natural killer cell stimulatory factor level MPheno.ontology MP:0008616 Interleukin-12 is a 70 kDa protein that is composed of covalently linked 40 kDa (IL-12b) and 35 kDa (IL-12a) subunits. The 40 kDa subunit (IL-12b) also is a component of interleukin-23 together with the IL-23a (19kDa) chain. abnormal circulating interleukin-12 level MP:0008616 anomaly in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells MESH:D12.644.276.374.465.512 increase in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells increased circulating IL-12 level increased circulating IL-12 p70 level increased circulating IL12 level increased circulating cytotoxic lymphocyte maturation factor level increased circulating interleukin-12 p70 level increased circulating natural killer cell stimulatory factor level MPheno.ontology MP:0008617 Interleukin-12 is a 70 kDa protein that is composed of covalently linked 40 kDa (IL-12b) and 35 kDa (IL-12a) subunits. The 40 kDa subunit (IL-12b) also is a component of interleukin-23 together with the IL-23a ( 19kDa) chain. increased circulating interleukin-12 level MP:0008617 increase in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells MESH:D12.644.276.374.465.512 reduction in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells decreased circulating IL-12 level decreased circulating IL-12 p70 level decreased circulating IL12 level decreased circulating cytotoxic lymphocyte maturation factor level decreased circulating interleukin-12 p70 level decreased circulating natural killer cell stimulatory factor level reduced circulating IL-12 level reduced circulating IL-12 p70 level reduced circulating IL12 level reduced circulating cytotoxic lymphocyte maturation factor level reduced circulating interleukin-12 p70 level reduced circulating natural killer cell stimulatory factor level MPheno.ontology MP:0008618 Interleukin-12 is a 70 kDa protein that is composed of covalently linked 40 kDa (IL-12b) and 35 kDa (IL-12a) subunits. The 40 kDa subunit (IL-12b) also is a component of interleukin-23 together with the IL-23a ( 19kDa) chain. decreased circulating interleukin-12 level MP:0008618 reduction in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells MESH:D12.644.276.374.465.512 anomaly in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells abnormal circulating IL-23 level abnormal circulating IL23 level MPheno.ontology MP:0008619 Interleukin-23 is comprised of a unique 19 kDa subunit (IL-23a) and 40 kDa subunit (IL-12b) that is shared with interleukin-12. abnormal circulating interleukin-23 level MP:0008619 anomaly in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells MESH:D12.644.276.374.465.759 increase in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells increased circulating IL-23 level increased circulating IL23 level MPheno.ontology MP:0008620 Interleukin-23 is comprised of a unique 19 kDa subunit (IL-23a) and 40 kDa subunit (IL-12b) that is shared with interleukin-12. increased circulating interleukin-23 level MP:0008620 increase in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells MESH:D12.644.276.374.465.759 reduction in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells decreased circulating IL-23 level decreased circulating IL23 level reduced circulating IL-23 level reduced circulating IL23 level MPheno.ontology MP:0008621 Interleukin-23 is comprised of a unique 19 kDa subunit (IL-23a) and 40 kDa subunit (IL-12b) that is shared with interleukin-12. decreased circulating interleukin-23 level MP:0008621 reduction in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells MESH:D12.644.276.374.465.759 anomaly in the amount in the blood of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells abnormal circulating IL-3 level abnormal circulating IL3 level abnormal circulating P-cell stimulating factor level abnormal circulating colony-stimulating factor 2 alpha level abnormal circulating eosinophil-mast cell growth-factor level abnormal circulating erythrocyte burst-promoting factor level abnormal circulating haematopoietin-2 level abnormal circulating hematopoietin-2 level abnormal circulating mast-cell colony-stimulating factor level abnormal circulating multipotential colony-stimulating factor level MPheno.ontology MP:0008622 abnormal circulating interleukin-3 level MP:0008622 anomaly in the amount in the blood of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells MESH:D12.644.276.374.410.240.400 increase in the amount in the blood of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells increased circulating IL-3 level increased circulating IL3 level increased circulating P-cell stimulating factor level increased circulating colony-stimulating factor 2 alpha level increased circulating eosinophil-mast cell growth-factor level increased circulating erythrocyte burst-promoting factor level increased circulating haematopoietin-2 level increased circulating hematopoietin-2 level increased circulating mast-cell colony-stimulating factor level increased circulating multipotential colony-stimulating factor level MPheno.ontology MP:0008623 increased circulating interleukin-3 level MP:0008623 increase in the amount in the blood of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells MESH:D12.644.276.374.410.240.400 reduction in the amount in the blood of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells decreased circulating IL-3 level decreased circulating IL3 level decreased circulating P-cell stimulating factor level decreased circulating colony-stimulating factor 2 alpha level decreased circulating eosinophil-mast cell growth-factor level decreased circulating erythrocyte burst-promoting factor level decreased circulating haematopoietin-2 level decreased circulating hematopoietin-2 level decreased circulating mast-cell colony-stimulating factor level decreased circulating multipotential colony-stimulating factor level reduced circulating IL-3 level reduced circulating IL3 level reduced circulating P-cell stimulating factor level reduced circulating colony-stimulating factor 2 alpha level reduced circulating eosinophil-mast cell growth-factor level reduced circulating erythrocyte burst-promoting factor level reduced circulating haematopoietin-2 level reduced circulating hematopoietin-2 level reduced circulating mast-cell colony-stimulating factor level reduced circulating multipotential colony-stimulating factor level MPheno.ontology MP:0008624 decreased circulating interleukin-3 level MP:0008624 reduction in the amount in the blood of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells MESH:D12.644.276.374.410.240.400 anomaly in the amount in the blood of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells abnormal circulating B-cell growth factor-II level abnormal circulating BCGF-II level abnormal circulating IL-5 level abnormal circulating IL5 level abnormal circulating T-cell replacing factor level abnormal circulating T-cell-replacing factor level abnormal circulating eosinophil differentiation factor level MPheno.ontology MP:0008625 abnormal circulating interleukin-5 level MP:0008625 anomaly in the amount in the blood of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells MESH:D12.644.276.374.465.505 increase in the amount in the blood of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells increased circulating B-cell growth factor-II level increased circulating BCGF-II level increased circulating IL-5 level increased circulating IL5 level increased circulating T-cell replacing factor level increased circulating T-cell-replacing factor level increased circulating eosinophil differentiation factor level MPheno.ontology MP:0008626 increased circulating interleukin-5 level MP:0008626 increase in the amount in the blood of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells MESH:D12.644.276.374.465.505 reduction in the amount in the blood of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells decreased circulating B-cell growth factor-II level decreased circulating BCGF-II level decreased circulating IL-5 level decreased circulating IL5 level decreased circulating T-cell replacing factor level decreased circulating T-cell-replacing factor level decreased circulating eosinophil differentiation factor level reduced circulating B-cell growth factor-II level reduced circulating BCGF-II level reduced circulating IL-5 level reduced circulating IL5 level reduced circulating T-cell replacing factor level reduced circulating T-cell-replacing factor level reduced circulating eosinophil differentiation factor level MPheno.ontology MP:0008627 decreased circulating interleukin-5 level MP:0008627 reduction in the amount in the blood of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells MESH:D12.644.276.374.465.505 anomaly in the amount in the blood of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells abnormal circulating IL-9 level abnormal circulating IL9 level abnormal circulating P40 T-Cell Growth Factor level abnormal circulating T-Cell Growth Factor P40 level MPheno.ontology MP:0008628 abnormal circulating interleukin-9 level MP:0008628 anomaly in the amount in the blood of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells MESH:D12.644.276.374.465.509 increase in the amount in the blood of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells increased circulating IL-9 level increased circulating IL9 level increased circulating P40 T-Cell Growth Factor level increased circulating T-Cell Growth Factor P40 level MPheno.ontology MP:0008629 increased circulating interleukin-9 level MP:0008629 increase in the amount in the blood of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells MESH:D12.644.276.374.465.509 reduction in the amount in the blood of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells decreased circulating IL-9 level decreased circulating IL9 level decreased circulating P40 T-Cell Growth Factor level decreased circulating T-Cell Growth Factor P40 level reduced circulating IL-9 level reduced circulating IL9 level reduced circulating P40 T-Cell Growth Factor level reduced circulating T-Cell Growth Factor P40 level MPheno.ontology MP:0008630 decreased circulating interleukin-9 level MP:0008630 reduction in the amount in the blood of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells MESH:D12.644.276.374.465.509 anomaly in the amount in the blood of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes abnormal circulating IL-16 level abnormal circulating IL16 level abnormal circulating LCF factor level abnormal circulating lymphocyte chemoattractant factor level MPheno.ontology MP:0008631 abnormal circulating interleukin-16 level MP:0008631 anomaly in the amount in the blood of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes MESH:D12.644.276.374.465.516 increase in the amount in the blood of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes increased circulating IL-16 level increased circulating IL16 level increased circulating LCF factor level increased circulating lymphocyte chemoattractant factor level MPheno.ontology MP:0008632 increased circulating interleukin-16 level MP:0008632 increase in the amount in the blood of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes MESH:D12.644.276.374.465.516 reduction in the amount in the blood of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes decreased circulating IL-16 level decreased circulating IL16 level decreased circulating LCF factor level decreased circulating lymphocyte chemoattractant factor level reduced circulating IL-16 level reduced circulating IL16 level reduced circulating LCF factor level reduced circulating lymphocyte chemoattractant factor level MPheno.ontology MP:0008633 decreased circulating interleukin-16 level MP:0008633 reduction in the amount in the blood of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes MESH:D12.644.276.374.465.516 anomaly in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity abnormal circulating IFN-gamma inducing factor level abnormal circulating IL-18 level abnormal circulating IL18 level abnormal circulating interferon-gamma inducing factor MPheno.ontology MP:0008634 abnormal circulating interleukin-18 level MP:0008634 anomaly in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity MESH:D12.644.276.374.465.518 increase in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity increased circulating IFN-gamma inducing factor level increased circulating IL-18 level increased circulating IL18 level increased circulating interferon-gamma inducing factor MPheno.ontology MP:0008635 increased circulating interleukin-18 level MP:0008635 increase in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity MESH:D12.644.276.374.465.518 reduction in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity decreased circulating IFN-gamma inducing factor level decreased circulating IL-18 level decreased circulating IL18 level decreased circulating interferon-gamma inducing factor reduced circulating IFN-gamma inducing factor level reduced circulating IL-18 level reduced circulating IL18 level reduced circulating interferon-gamma inducing factor MPheno.ontology MP:0008636 decreased circulating interleukin-18 level MP:0008636 reduction in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity MESH:D12.644.276.374.465.518 anomaly in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active abnormal circulating IL-1a level abnormal circulating IL-1alpha level abnormal circulating IL1 alpha level abnormal circulating IL1a level abnormal circulating haematopoietin-1 level abnormal circulating hematopoietin-1 level MPheno.ontology MP:0008637 abnormal circulating interleukin-1 alpha level MP:0008637 anomaly in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active MESH:D12.644.276.374.465.501.300 increase in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active increased circulating IL-1a level increased circulating IL-1alpha level increased circulating IL1 alpha level increased circulating IL1a level increased circulating haematopoietin-1 level increased circulating hematopoietin-1 level MPheno.ontology MP:0008638 increased circulating interleukin-1 alpha level MP:0008638 increase in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active MESH:D12.644.276.374.465.501.300 reduction in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active decreased circulating IL-1a level decreased circulating IL-1alpha level decreased circulating IL1 alpha level decreased circulating IL1a level decreased circulating haematopoietin-1 level decreased circulating hematopoietin-1 level reduced circulating IL-1a level reduced circulating IL-1alpha level reduced circulating IL1 alpha level reduced circulating IL1a level reduced circulating haematopoietin-1 level reduced circulating hematopoietin-1 level MPheno.ontology MP:0008639 decreased circulating interleukin-1 alpha level MP:0008639 reduction in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active MESH:D12.644.276.374.465.501.300 anomaly in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane abnormal circulating IL-1 beta level abnormal circulating IL-1b level abnormal circulating Il1b level abnormal circulating catabloin level MPheno.ontology MP:0008640 abnormal circulating interleukin-1 beta level MP:0008640 anomaly in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane MESH:D12.644.276.374.465.501.600 increased in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane increased circulating IL-1 beta level increased circulating IL-1b level increased circulating Il1b level increased circulating catabloin level MPheno.ontology MP:0008641 increased circulating interleukin-1 beta level MP:0008641 increased in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane MESH:D12.644.276.374.465.501.600 reduction in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane decreased circulating IL-1 beta level decreased circulating IL-1b level decreased circulating Il1b level decreased circulating catabloin level reduced circulating IL-1 beta level reduced circulating IL-1b level reduced circulating Il1b level reduced circulating catabloin level MPheno.ontology MP:0008642 decreased circulating interleukin-1 beta level MP:0008642 reduction in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane MESH:D12.644.276.374.465.501.600 anomaly in the amount in the blood of the p35 subunit of interleukin-12 abnormal circulating IL-12a level abnormal circulating IL-12p35 level abnormal circulating interleukin-12p35 level MPheno.ontology MP:0008643 abnormal circulating interleukin-12a level MP:0008643 anomaly in the amount in the blood of the p35 subunit of interleukin-12 MESH:D12.644.276.374.465.512.249 increase in the amount in the blood of the p35 subunit of interleukin-12 increased circulating IL-12a level increased circulating IL-12p35 level increased circulating interleukin-12p35 level MPheno.ontology MP:0008644 increased circulating interleukin-12a level MP:0008644 increase in the amount in the blood of the p35 subunit of interleukin-12 MESH:D12.644.276.374.465.512.249 reduction in the amount in the blood of the p35 subunit of interleukin-12 decreased circulating IL-12a level decreased circulating IL-12p35 level decreased circulating interleukin-12p35 level reduced circulating IL-12a level reduced circulating IL-12p35 level reduced circulating interleukin-12p35 level MPheno.ontology MP:0008645 decreased circulating interleukin-12a level MP:0008645 reduction in the amount in the blood of the p35 subunit of interleukin-12 MESH:D12.644.276.374.465.512.249 anomaly in the amount in the blood of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 abnormal circulating IL-12b level abnormal circulating IL-12p40 level abnormal circulating IL-23b level abnormal circulating IL-23p40 level abnormal circulating interleukin-12 beta chain level abnormal circulating interleukin-12p40 level abnormal circulating interleukin-23 p40 level abnormal circulating interleukin-23b level MPheno.ontology MP:0008646 abnormal circulating interleukin-12b level MP:0008646 anomaly in the amount in the blood of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 MESH:D12.644.276.374.465.512.500 increase in the amount in the blood of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 increased circulating IL-12b level increased circulating IL-12p40 level increased circulating IL-23b level increased circulating IL-23p40 level increased circulating interleukin-12 beta chain level increased circulating interleukin-12p40 level increased circulating interleukin-23 p40 level increased circulating interleukin-23b level MPheno.ontology MP:0008647 increased circulating interleukin-12b level MP:0008647 increase in the amount in the blood of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 MESH:D12.644.276.374.465.512.500 reduction in the amount in the blood of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 decreased circulating IL-12b level decreased circulating IL-12p40 level decreased circulating IL-23b level decreased circulating IL-23p40 level decreased circulating interleukin-12 beta chain level decreased circulating interleukin-12p40 level decreased circulating interleukin-23 p40 level decreased circulating interleukin-23b level reduced circulating IL-12b level reduced circulating IL-12p40 level reduced circulating IL-23b level reduced circulating IL-23p40 level reduced circulating interleukin-12 beta chain level reduced circulating interleukin-12p40 level reduced circulating interleukin-23 p40 level reduced circulating interleukin-23b level MPheno.ontology MP:0008648 decreased circulating interleukin-12b level MP:0008648 reduction in the amount in the blood of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 MESH:D12.644.276.374.465.512.500 anomaly in the amount in the blood of the p19 subunit of interleukin-23 abnormal circulating IL-23 alpha level abnormal circulating IL-23 p19 level abnormal circulating IL-23a level abnormal circulating IL-23p19 level abnormal circulating interleukin-23 alpha level abnormal circulating interleukin-23p19 level MPheno.ontology MP:0008649 abnormal circulating interleukin-23a level MP:0008649 anomaly in the amount in the blood of the p19 subunit of interleukin-23 MESH:D12.644.276.374.465.759.500 anomaly in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens abnormal IL-1 secretion abnormal T helper factor secretion abnormal epidermal cell derived thymocyte-activating factor secretion abnormal interleukin I secretion abnormal lymphocyte-activating factor secretion abnormal macrophage cell factor secretion MPheno.ontology MP:0008650 abnormal interleukin-1 secretion MP:0008650 anomaly in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens MESH:D12.644.276.374.465.501 increase in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens increased IL-1 secretion increased T helper factor secretion increased epidermal cell derived thymocyte-activating factor secretion increased interleukin I secretion increased lymphocyte-activating factor secretion increased macrophage cell factor secretion MPheno.ontology MP:0008651 increased interleukin-1 secretion MP:0008651 increase in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens MESH:D12.644.276.374.465.501 reduction in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens decreased IL-1 secretion decreased T helper factor secretion decreased epidermal cell derived thymocyte-activating factor secretion decreased interleukin I secretion decreased lymphocyte-activating factor secretion decreased macrophage cell factor secretion reduced IL-1 secretion reduced T helper factor secretion reduced epidermal cell derived thymocyte-activating factor secretion reduced interleukin I secretion reduced lymphocyte-activating factor secretion reduced macrophage cell factor secretion MPheno.ontology MP:0008652 decreased interleukin-1 secretion MP:0008652 reduction in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens MESH:D12.644.276.374.465.501 anomaly in the production or release of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active abnormal IL-1a secretion abnormal IL-1alpha secretion abnormal IL1 alpha secretion abnormal IL1a secretion abnormal haematopoietin-1 secretion abnormal hematopoietin-1 secretion MPheno.ontology MP:0008653 abnormal interleukin-1 alpha secretion MP:0008653 anomaly in the production or release of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active MESH:D12.644.276.374.465.501.300 increase in the production or release of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active increased IL-1a secretion increased IL-1alpha secretion increased IL1 alpha secretion increased IL1a secretion increased haematopoietin-1 secretion increased hematopoietin-1 secretion MPheno.ontology MP:0008654 increased interleukin-1 alpha secretion MP:0008654 increase in the production or release of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active MESH:D12.644.276.374.465.501.300 reduction in the production or release of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active decreased IL-1a secretion decreased IL-1alpha secretion decreased IL1 alpha secretion decreased IL1a secretion decreased haematopoietin-1 secretion decreased hematopoietin-1 secretion reduced IL-1a secretion reduced IL-1alpha secretion reduced IL1 alpha secretion reduced IL1a secretion reduced haematopoietin-1 secretion reduced hematopoietin-1 secretion MPheno.ontology MP:0008655 decreased interleukin-1 alpha secretion MP:0008655 reduction in the production or release of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active MESH:D12.644.276.374.465.501.300 anomaly in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane abnormal IL-1 beta secretion abnormal IL-1b secretion abnormal Il1b secretion abnormal catabloin secretion MPheno.ontology MP:0008656 abnormal interleukin-1 beta secretion MP:0008656 anomaly in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane MESH:D12.644.276.374.465.501.600 increase in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane increased IL-1 beta secretion increased IL-1b secretion increased Il1b secretion increased catabloin secretion MPheno.ontology MP:0008657 increased interleukin-1 beta secretion MP:0008657 increase in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane MESH:D12.644.276.374.465.501.600 reduction in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane decreased IL-1 beta secretion decreased IL-1b secretion decreased Il1b secretion decreased catabloin secretion reduced IL-1 beta secretion reduced IL-1b secretion reduced Il1b secretion reduced catabloin secretion MPheno.ontology MP:0008658 decreased interleukin-1 beta secretion MP:0008658 reduction in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane MESH:D12.644.276.374.465.501.600 anomaly in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation abnormal CSIF-10 secretion abnormal IL-10 secretion abnormal IL10 secretion abnormal cytokine synthesis inhibitory factor secretion MPheno.ontology MP:0008659 abnormal interleukin-10 secretion MP:0008659 anomaly in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation MESH:D12.644.276.374.465.510 increase in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation increased CSIF-10 secretion increased IL-10 secretion increased IL10 secretion increased cytokine synthesis inhibitory factor secretion MPheno.ontology MP:0008660 increased interleukin-10 secretion MP:0008660 increase in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation MESH:D12.644.276.374.465.510 reduction in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation decreased CSIF-10 secretion decreased IL-10 secretion decreased IL10 secretion decreased cytokine synthesis inhibitory factor secretion reduced CSIF-10 secretion reduced IL-10 secretion reduced IL10 secretion reduced cytokine synthesis inhibitory factor secretion MPheno.ontology MP:0008661 decreased interleukin-10 secretion MP:0008661 reduction in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation MESH:D12.644.276.374.465.510 anomaly in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells abnormal IL-12 p70 secretion abnormal IL-12 secretion abnormal IL12 secretion abnormal cytotoxic lymphocyte maturation factor secretion abnormal interleukin-12 p70 secretion abnormal natural killer cell stimulatory factor secretion MPheno.ontology MP:0008662 Interleukin-12 is a 70 kDa protein that is composed of covalently linked 40 kDa (IL-12b) and 35 kDa (IL-12a) subunits. The 40 kDa subunit (IL-12b) also is a component of interleukin-23 together with the IL-23a ( 19kDa) chain. abnormal interleukin-12 secretion MP:0008662 anomaly in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells MESH:D12.644.276.374.465.512 increase in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells increased IL-12 p70 secretion increased IL-12 secretion increased IL12 secretion increased cytotoxic lymphocyte maturation factor secretion increased interleukin-12 p70 secretion increased natural killer cell stimulatory factor secretion MPheno.ontology MP:0008663 Interleukin-12 is a 70 kDa protein that is composed of covalently linked 40 kDa (IL-12b) and 35 kDa (IL-12a) subunits. The 40 kDa subunit (IL-12b) also is a component of interleukin-23 together with the IL-23a ( 19kDa) chain. increased interleukin-12 secretion MP:0008663 increase in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells MESH:D12.644.276.374.465.512 reduction in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells decreased IL-12 p70 secretion decreased IL-12 secretion decreased IL12 secretion decreased cytotoxic lymphocyte maturation factor secretion decreased interleukin-12 p70 secretion decreased natural killer cell stimulatory factor secretion reduced IL-12 p70 secretion reduced IL-12 secretion reduced IL12 secretion reduced cytotoxic lymphocyte maturation factor secretion reduced interleukin-12 p70 secretion reduced natural killer cell stimulatory factor secretion MPheno.ontology MP:0008664 Interleukin-12 is a 70 kDa protein that is composed of covalently linked 40 kDa (IL-12b) and 35 kDa (IL-12a) subunits. The 40 kDa subunit (IL-12b) also is a component of interleukin-23 together with the IL-23a ( 19kDa) chain. decreased interleukin-12 secretion MP:0008664 reduction in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells MESH:D12.644.276.374.465.512 anomaly in the production or release of the p35 subunit of interleukin-12 abnormal IL-12a secretion abnormal IL-12p35 secretion abnormal interleukin-12p35 secretion MPheno.ontology MP:0008665 abnormal interleukin-12a secretion MP:0008665 anomaly in the production or release of the p35 subunit of interleukin-12 MESH:D12.644.276.374.465.512.249 increase in the production or release of the p35 subunit of interleukin-12 increased IL-12a secretion increased IL-12p35 secretion increased interleukin-12p35 secretion MPheno.ontology MP:0008666 increased interleukin-12a secretion MP:0008666 increase in the production or release of the p35 subunit of interleukin-12 MESH:D12.644.276.374.465.512.249 reduction in the production or release of the p35 subunit of interleukin-12 decreased IL-12a secretion decreased IL-12p35 secretion decreased interleukin-12p35 secretion reduced IL-12a secretion reduced IL-12p35 secretion reduced interleukin-12p35 secretion MPheno.ontology MP:0008667 decreased interleukin-12a secretion MP:0008667 reduction in the production or release of the p35 subunit of interleukin-12 MESH:D12.644.276.374.465.512.249 anomaly in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 abnormal IL-12b secretion abnormal IL-12p40 secretion abnormal IL-23b secretion abnormal IL-23p40 secretion abnormal interleukin-12 beta chain secretion abnormal interleukin-12p40 secretion abnormal interleukin-23 p40 secretion abnormal interleukin-23b secretion MPheno.ontology MP:0008668 abnormal interleukin-12b secretion MP:0008668 anomaly in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 MESH:D12.644.276.374.465.512.500 increase in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 increased IL-12b secretion increased IL-12p40 secretion increased IL-23b secretion increased IL-23p40 secretion increased interleukin-12 beta chain secretion increased interleukin-12p40 secretion increased interleukin-23 p40 secretion increased interleukin-23b secretion MPheno.ontology MP:0008669 increased interleukin-12b secretion MP:0008669 increase in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 MESH:D12.644.276.374.465.512.500 reduction in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 decreased IL-12b secretion decreased IL-12p40 secretion decreased IL-23b secretion decreased IL-23p40 secretion decreased interleukin-12 beta chain secretion decreased interleukin-12p40 secretion decreased interleukin-23 p40 secretion decreased interleukin-23b secretion reduced IL-12b secretion reduced IL-12p40 secretion reduced IL-23b secretion reduced IL-23p40 secretion reduced interleukin-12 beta chain secretion reduced interleukin-12p40 secretion reduced interleukin-23 p40 secretion reduced interleukin-23b secretion MPheno.ontology MP:0008670 decreased interleukin-12b secretion MP:0008670 reduction in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23 MESH:D12.644.276.374.465.512.500 anomaly in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses abnormal IL-13 secretion abnormal IL13 secretion MPheno.ontology MP:0008671 abnormal interleukin-13 secretion MP:0008671 anomaly in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses MESH:D12.644.276.374.465.513 increase in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses increased IL-13 secretion increased IL13 secretion MPheno.ontology MP:0008672 increased interleukin-13 secretion MP:0008672 increase in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses MESH:D12.644.276.374.465.513 reduction in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses decreased IL-13 secretion decreased IL13 secretion reduced IL-13 secretion reduced IL13 secretion MPheno.ontology MP:0008673 decreased interleukin-13 secretion MP:0008673 reduction in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses MESH:D12.644.276.374.465.513 anomaly in the production or release of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 abnormal IL-15 secretion abnormal IL15 secretion MPheno.ontology MP:0008674 abnormal interleukin-15 secretion MP:0008674 anomaly in the production or release of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 MESH:D12.644.276.374.465.515 increase in the production or release of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 increased IL-15 secretion increased IL15 secretion MPheno.ontology MP:0008675 increased interleukin-15 secretion MP:0008675 increase in the production or release of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 MESH:D12.644.276.374.465.515 reduction in the production or release of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 decreased IL-15 secretion decreased IL15 secretion reduced IL-15 secretion reduced IL15 secretion MPheno.ontology MP:0008676 decreased interleukin-15 secretion MP:0008676 reduction in the production or release of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2 MESH:D12.644.276.374.465.515 anomaly in the production or release of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes abnormal IL-16 secretion abnormal IL16 secretion abnormal LCF factor secretion abnormal lymphocyte chemoattractant factor secretion MPheno.ontology MP:0008677 abnormal interleukin-16 secretion MP:0008677 anomaly in the production or release of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes MESH:D12.644.276.374.465.516 increase in the production or release of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes increased IL-16 secretion increased IL16 secretion increased LCF factor secretion increased lymphocyte chemoattractant factor secretion MPheno.ontology MP:0008678 increased interleukin-16 secretion MP:0008678 increase in the production or release of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes MESH:D12.644.276.374.465.516 reduction in the production or release of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes decreased IL-16 secretion decreased IL16 secretion decreased LCF factor secretion decreased lymphocyte chemoattractant factor secretion reduced IL-16 secretion reduced IL16 secretion reduced LCF factor secretion reduced lymphocyte chemoattractant factor secretion MPheno.ontology MP:0008679 decreased interleukin-16 secretion MP:0008679 reduction in the production or release of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes MESH:D12.644.276.374.465.516 anomaly in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors abnormal IL-17 secretion abnormal IL17 secretion abnormal CTLA-8 secretion abnormal CTLA8 secretion abnormal ML-1 secretion abnormal cytokine CX2 secretion abnormal cytotoxic T lymphocyte-associated antigen 8 secretion MPheno.ontology MP:0008680 Several subtypes of interleukin-17 have been identified, each of which is a product of a unique gene. abnormal interleukin-17 secretion MP:0008680 anomaly in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors MESH:D12.644.276.374.465.517 increase in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors increased IL-17 secretion increased IL17 secretion increased CTLA-8 secretion increased CTLA8 secretion increased ML-1 secretion increased cytokine CX2 secretion increased cytotoxic T lymphocyte-associated antigen 8 secretion MPheno.ontology MP:0008681 Several subtypes of interleukin-17 have been identified, each of which is a product of a unique gene. increased interleukin-17 secretion MP:0008681 increase in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors MESH:D12.644.276.374.465.517 reduction in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors decreased IL-17 secretion decreased IL17 secretion reduced IL-17 secretion reduced IL17 secretion decreased CTLA-8 secretion decreased CTLA8 secretion decreased ML-1 secretion decreased cytokine CX2 secretion decreased cytotoxic T lymphocyte-associated antigen 8 secretion reduced CTLA-8 secretion reduced CTLA8 secretion reduced ML-1 secretion reduced cytokine CX2 secretion reduced cytotoxic T lymphocyte-associated antigen 8 secretion MPheno.ontology MP:0008682 Several subtypes of interleukin-17 have been identified, each of which is a product of a unique gene. decreased interleukin-17 secretion MP:0008682 reduction in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors MESH:D12.644.276.374.465.517 anomaly in the production or release of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity abnormal IFN-gamma inducing factor secretion abnormal IL-18 secretion abnormal IL18 secretion abnormal interferon-gamma inducing factor secretion MPheno.ontology MP:0008683 abnormal interleukin-18 secretion MP:0008683 anomaly in the production or release of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity MESH:D12.644.276.374.465.518 increase in the production or release of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity increased IFN-gamma inducing factor secretion increased IL-18 secretion increased IL18 secretion increased interferon-gamma inducing factor secretion MPheno.ontology MP:0008684 increased interleukin-18 secretion MP:0008684 increase in the production or release of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity MESH:D12.644.276.374.465.518 reduction in the production or release of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity decreased IFN-gamma inducing factor secretion decreased IL-18 secretion decreased IL18 secretion decreased interferon-gamma inducing factor secretion reduced IFN-gamma inducing factor secretion reduced IL-18 secretion reduced IL18 secretion reduced interferon-gamma inducing factor secretion MPheno.ontology MP:0008685 decreased interleukin-18 secretion MP:0008685 reduction in the production or release of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity MESH:D12.644.276.374.465.518 anomaly in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes abnormal IL-2 secretion abnormal IL2 secretion abnormal RU 49637 secretion abnormal RU-49637 secretion abnormal Ro-23-6019 secretion abnormal Ro-236019 secretion abnormal T-cell growth factor secretion abnormal T-cell stimulating factor secretion abnormal TCGF secretion abnormal interleukin II secretion abnormal interleukine 2 secretion abnormal lymphocyte mitogenic factor secretion abnormal thymocyte stimulating factor secretion MPheno.ontology MP:0008686 abnormal interleukin-2 secretion MP:0008686 anomaly in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes MESH:D12.644.276.374.465.502 increase in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes increased IL-2 secretion increased IL2 secretion increased RU 49637 secretion increased RU-49637 secretion increased Ro-23-6019 secretion increased Ro-236019 secretion increased T-cell growth factor secretion increased T-cell stimulating factor secretion increased TCGF secretion increased interleukin II secretion increased interleukine 2 secretion increased lymphocyte mitogenic factor secretion increased thymocyte stimulating factor secretion MPheno.ontology MP:0008687 increased interleukin-2 secretion MP:0008687 increase in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes MESH:D12.644.276.374.465.502 reduction in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes decreased IL-2 secretion decreased IL2 secretion decreased RU 49637 secretion decreased RU-49637 secretion decreased Ro-23-6019 secretion decreased Ro-236019 secretion decreased T-cell growth factor secretion decreased T-cell stimulating factor secretion decreased TCGF secretion decreased interleukin II secretion decreased interleukine 2 secretion decreased lymphocyte mitogenic factor secretion decreased thymocyte stimulating factor secretion reduced IL-2 secretion reduced IL2 secretion reduced RU 49637 secretion reduced RU-49637 secretion reduced Ro-23-6019 secretion reduced Ro-236019 secretion reduced T-cell growth factor secretion reduced T-cell stimulating factor secretion reduced TCGF secretion reduced interleukin II secretion reduced interleukine 2 secretion reduced lymphocyte mitogenic factor secretion reduced thymocyte stimulating factor secretion MPheno.ontology MP:0008688 decreased interleukin-2 secretion MP:0008688 reduction in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes MESH:D12.644.276.374.465.502 anomaly in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells abnormal IL-23 secretion abnormal IL23 secretion MPheno.ontology MP:0008689 Interleukin-23 is comprised of a unique 19 kDa subunit (IL-23a) and 40 kDa subunit (IL-12b) that is shared with interleukin-12. abnormal interleukin-23 secretion MP:0008689 anomaly in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells MESH:D12.644.276.374.465.759 increase in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells increased IL-23 secretion increased IL23 secretion MPheno.ontology MP:0008690 Interleukin-23 is comprised of a unique 19 kDa subunit (IL-23a) and 40 kDa subunit (IL-12b) that is shared with interleukin-12. increased interleukin-23 secretion MP:0008690 increase in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells MESH:D12.644.276.374.465.759 reduction in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells decreased IL-23 secretion decreased IL23 secretion reduced IL-23 secretion reduced IL23 secretion MPheno.ontology MP:0008691 Interleukin-23 is comprised of a unique 19 kDa subunit (IL-23a) and 40 kDa subunit (IL-12b) that is shared with interleukin-12. decreased interleukin-23 secretion MP:0008691 reduction in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells MESH:D12.644.276.374.465.759 anomaly in the production or release of the p19 subunit of interleukin-23 abnormal IL-23 alpha secretion abnormal IL-23 p19 secretion abnormal IL-23a secretion abnormal IL-23p19 secretion abnormal interleukin-23 alpha secretion abnormal interleukin-23p19 secretion MPheno.ontology MP:0008692 abnormal interleukin-23a secretion MP:0008692 anomaly in the production or release of the p19 subunit of interleukin-23 MESH:D12.644.276.374.465.759.500 increase in the production or release of the p19 subunit of interleukin-23 increased IL-23 alpha secretion increased IL-23 p19 secretion increased IL-23a secretion increased IL-23p19 secretion increased interleukin-23 alpha secretion increased interleukin-23p19 secretion MPheno.ontology MP:0008693 increased interleukin-23a secretion MP:0008693 increase in the production or release of the p19 subunit of interleukin-23 MESH:D12.644.276.374.465.759.500 reduction in the production or release of the p19 subunit of interleukin-23 decreased IL-23 alpha secretion decreased IL-23 p19 secretion decreased IL-23a secretion decreased IL-23p19 secretion decreased interleukin-23 alpha secretion decreased interleukin-23p19 secretion reduced IL-23 alpha secretion reduced IL-23 p19 secretion reduced IL-23a secretion reduced IL-23p19 secretion reduced interleukin-23 alpha secretion reduced interleukin-23p19 secretion MPheno.ontology MP:0008694 decreased interleukin-23a secretion MP:0008694 reduction in the production or release of the p19 subunit of interleukin-23 MESH:D12.644.276.374.465.759.500 anomaly in the production or release of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells abnormal IL-3 secretion abnormal IL3 secretion abnormal P-cell stimulating factor secretion abnormal colony-stimulating factor 2 alpha secretion abnormal eosinophil-mast cell growth-factor secretion abnormal erythrocyte burst-promoting factor secretion abnormal haematopoietin-2 secretion abnormal hematopoietin-2 secretion abnormal mast-cell colony-stimulating factor secretion abnormal multipotential colony-stimulating factor secretion MPheno.ontology MP:0008695 abnormal interleukin-3 secretion MP:0008695 anomaly in the production or release of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells MESH:D12.644.276.374.410.240.400 increase in the production or release of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells increased IL-3 secretion increased IL3 secretion increased P-cell stimulating factor secretion increased colony-stimulating factor 2 alpha secretion increased eosinophil-mast cell growth-factor secretion increased erythrocyte burst-promoting factor secretion increased haematopoietin-2 secretion increased hematopoietin-2 secretion increased mast-cell colony-stimulating factor secretion increased multipotential colony-stimulating factor secretion MPheno.ontology MP:0008696 increased interleukin-3 secretion MP:0008696 increase in the production or release of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells MESH:D12.644.276.374.410.240.400 reduction in the production or release of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells decreased IL-3 secretion decreased IL3 secretion decreased P-cell stimulating factor secretion decreased colony-stimulating factor 2 alpha secretion decreased eosinophil-mast cell growth-factor secretion decreased erythrocyte burst-promoting factor secretion decreased haematopoietin-2 secretion decreased hematopoietin-2 secretion decreased mast-cell colony-stimulating factor secretion decreased multipotential colony-stimulating factor secretion reduced IL-3 secretion reduced IL3 secretion reduced P-cell stimulating factor secretion reduced colony-stimulating factor 2 alpha secretion reduced eosinophil-mast cell growth-factor secretion reduced erythrocyte burst-promoting factor secretion reduced haematopoietin-2 secretion reduced hematopoietin-2 secretion reduced mast-cell colony-stimulating factor secretion reduced multipotential colony-stimulating factor secretion MPheno.ontology MP:0008697 decreased interleukin-3 secretion MP:0008697 reduction in the production or release of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells MESH:D12.644.276.374.410.240.400 anomaly in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells abnormal B cell stimulatory factor-1 secretion abnormal B-cell growth factor-1 secretion abnormal B-cell growth factor-I secretion abnormal B-cell proliferating factor secretion abnormal B-cell stimulating factor-1 secretion abnormal B-cell stimulatory factor 1 secretion abnormal B-cell stimulatory factor-1 secretion abnormal BCGF-1 secretion abnormal BSF-1 secretion abnormal Binetrakin secretion abnormal IL-4 secretion abnormal IL4 secretion abnormal MCGF-2 secretion abnormal mast cell growth factor-2 secretion MPheno.ontology MP:0008698 abnormal interleukin-4 secretion MP:0008698 anomaly in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells MESH:D12.644.276.374.465.504 increase in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells increased B cell stimulatory factor-1 secretion increased B-cell growth factor-1 secretion increased B-cell growth factor-I secretion increased B-cell proliferating factor secretion increased B-cell stimulating factor-1 secretion increased B-cell stimulatory factor 1 secretion increased B-cell stimulatory factor-1 secretion increased BCGF-1 secretion increased BSF-1 secretion increased Binetrakin secretion increased IL-4 secretion increased IL4 secretion increased MCGF-2 secretion increased mast cell growth factor-2 secretion MPheno.ontology MP:0008699 increased interleukin-4 secretion MP:0008699 increase in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells MESH:D12.644.276.374.465.504 reduction in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells decreased B cell stimulatory factor-1 secretion decreased B-cell growth factor-1 secretion decreased B-cell growth factor-I secretion decreased B-cell proliferating factor secretion decreased B-cell stimulating factor-1 secretion decreased B-cell stimulatory factor 1 secretion decreased B-cell stimulatory factor-1 secretion decreased BCGF-1 secretion decreased BSF-1 secretion decreased Binetrakin secretion decreased IL-4 secretion decreased IL4 secretion decreased MCGF-2 secretion decreased mast cell growth factor-2 secretion reduced B cell stimulatory factor-1 secretion reduced B-cell growth factor-1 secretion reduced B-cell growth factor-I secretion reduced B-cell proliferating factor secretion reduced B-cell stimulating factor-1 secretion reduced B-cell stimulatory factor 1 secretion reduced B-cell stimulatory factor-1 secretion reduced BCGF-1 secretion reduced BSF-1 secretion reduced Binetrakin secretion reduced IL-4 secretion reduced IL4 secretion reduced MCGF-2 secretion reduced mast cell growth factor-2 secretion MPheno.ontology MP:0008700 decreased interleukin-4 secretion MP:0008700 reduction in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells MESH:D12.644.276.374.465.504 anomaly in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells abnormal B-cell growth factor-II secretion abnormal BCGF-II secretion abnormal IL-5 secretion abnormal IL5 secretion abnormal T-cell replacing factor secretion abnormal T-cell-replacing factor secretion abnormal eosinophil differentiation factor secretion MPheno.ontology MP:0008701 abnormal interleukin-5 secretion MP:0008701 anomaly in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells MESH:D12.644.276.374.465.505 increase in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells increased B-cell growth factor-II secretion increased BCGF-II secretion increased IL-5 secretion increased IL5 secretion increased T-cell replacing factor secretion increased T-cell-replacing factor secretion increased eosinophil differentiation factor secretion MPheno.ontology MP:0008702 increased interleukin-5 secretion MP:0008702 increase in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells MESH:D12.644.276.374.465.505 reduction in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells decreased B-cell growth factor-II secretion decreased BCGF-II secretion decreased IL-5 secretion decreased IL5 secretion decreased T-cell replacing factor secretion decreased T-cell-replacing factor secretion decreased eosinophil differentiation factor secretion reduced B-cell growth factor-II secretion reduced BCGF-II secretion reduced IL-5 secretion reduced IL5 secretion reduced T-cell replacing factor secretion reduced T-cell-replacing factor secretion reduced eosinophil differentiation factor secretion MPheno.ontology MP:0008703 decreased interleukin-5 secretion MP:0008703 reduction in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells MESH:D12.644.276.374.465.505 anomaly in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts abnormal B cell stimulatory factor-2 secretion abnormal B-cell differentiation factor secretion abnormal B-cell differentiation factor-2 secretion abnormal B-cell stimulatory factor 2 secretion abnormal B-cell stimulatory factor-2 secretion abnormal BSF-2 secretion abnormal IFN-beta 2 secretion abnormal IL-6 secretion abnormal IL6 secretion abnormal MGI-2 secretion abnormal hepatocyte-stimulating factor secretion abnormal hybridoma growth factor secretion abnormal myeloid differentiation-inducing protein secretion abnormal plasmacytoma growth factor secretion MPheno.ontology MP:0008704 abnormal interleukin-6 secretion MP:0008704 anomaly in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts MESH:D12.644.276.374.465.506 increase in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts increased B cell stimulatory factor-2 secretion increased B-cell differentiation factor secretion increased B-cell differentiation factor-2 secretion increased B-cell stimulatory factor 2 secretion increased B-cell stimulatory factor-2 secretion increased BSF-2 secretion increased IFN-beta 2 secretion increased IL-6 secretion increased IL6 secretion increased MGI-2 secretion increased hepatocyte-stimulating factor secretion increased hybridoma growth factor secretion increased myeloid differentiation-inducing protein secretion increased plasmacytoma growth factor secretion MPheno.ontology MP:0008705 increased interleukin-6 secretion MP:0008705 increase in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts MESH:D12.644.276.374.465.506 reduction in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts decreased B cell stimulatory factor-2 secretion decreased B-cell differentiation factor secretion decreased B-cell differentiation factor-2 secretion decreased B-cell stimulatory factor 2 secretion decreased B-cell stimulatory factor-2 secretion decreased BSF-2 secretion decreased IFN-beta 2 secretion decreased IL-6 secretion decreased IL6 secretion decreased MGI-2 secretion decreased hepatocyte-stimulating factor secretion decreased hybridoma growth factor secretion decreased myeloid differentiation-inducing protein secretion decreased plasmacytoma growth factor secretion reduced B cell stimulatory factor-2 secretion reduced B-cell differentiation factor secretion reduced B-cell differentiation factor-2 secretion reduced B-cell stimulatory factor 2 secretion reduced B-cell stimulatory factor-2 secretion reduced BSF-2 secretion reduced IFN-beta 2 secretion reduced IL-6 secretion reduced IL6 secretion reduced MGI-2 secretion reduced hepatocyte-stimulating factor secretion reduced hybridoma growth factor secretion reduced myeloid differentiation-inducing protein secretion reduced plasmacytoma growth factor secretion MPheno.ontology MP:0008706 decreased interleukin-6 secretion MP:0008706 reduction in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts MESH:D12.644.276.374.465.506 anomaly in the production or release of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation abnormal IL-7 secretion abnormal IL7 secretion abnormal lymphopoietin-1 secretion MPheno.ontology MP:0008707 abnormal interleukin-7 secretion MP:0008707 anomaly in the production or release of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation MESH:D12.644.276.374.465.507 increase in the production or release of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation increased IL-7 secretion increased IL7 secretion increased lymphopoietin-1 secretion MPheno.ontology MP:0008708 increased interleukin-7 secretion MP:0008708 increase in the production or release of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation MESH:D12.644.276.374.465.507 reduction in the production or release of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation decreased IL-7 secretion decreased IL7 secretion decreased lymphopoietin-1 secretion reduced IL-7 secretion reduced IL7 secretion reduced lymphopoietin-1 secretion MPheno.ontology MP:0008709 decreased interleukin-7 secretion MP:0008709 reduction in the production or release of a cytokine produced by bone marrow stromal cells that promotes the growth of B-cell precursors and is co-mitogenic with interleukin-2 for mature T-cell activation MESH:D12.644.276.374.465.507 anomaly in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells abnormal IL-9 secretion abnormal IL9 secretion abnormal P40 T-Cell Growth Factor secretion abnormal T-Cell Growth Factor P40 secretion MPheno.ontology MP:0008710 abnormal interleukin-9 secretion MP:0008710 anomaly in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells MESH:D12.644.276.374.465.509 increase in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells increased IL-9 secretion increased IL9 secretion increased P40 T-Cell Growth Factor secretion increased T-Cell Growth Factor P40 secretion MPheno.ontology MP:0008711 increased interleukin-9 secretion MP:0008711 increase in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells MESH:D12.644.276.374.465.509 reduction in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells decreased IL-9 secretion decreased IL9 secretion decreased P40 T-Cell Growth Factor secretion decreased T-Cell Growth Factor P40 secretion reduced IL-9 secretion reduced IL9 secretion reduced P40 T-Cell Growth Factor secretion reduced T-Cell Growth Factor P40 secretion MPheno.ontology MP:0008712 decreased interleukin-9 secretion MP:0008712 reduction in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells MESH:D12.644.276.374.465.509 deviation from the normal levels of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells MPheno.ontology MP:0008713 abnormal cytokine level MP:0008713 deviation from the normal levels of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells ISBN:0-8153-1691-7 https://orcid.org/0000-0003-3691-0324 greater than the expected number of a malignant neoplasm of the lung, arising from epithelial cells, usually glandular or squamous, occurring in a specific population in a given time period MPheno.ontology lung carcinoma MP:0008714 increased lung carcinoma incidence MP:0008714 greater than the expected number of a malignant neoplasm of the lung, arising from epithelial cells, usually glandular or squamous, occurring in a specific population in a given time period ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 greater than the expected number of an anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm, occurring in a specific population in a given time period MPheno.ontology lung small cell carcinoma MP:0008715 increased lung small cell carcinoma incidence MP:0008715 greater than the expected number of an anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm, occurring in a specific population in a given time period MESH:C04.557.465.625.650.240.390 greater than the expected number of a heterogeneous aggregate of at least three distinct histological types of lung cancer, occurring in a specific population in a given time period MPheno.ontology lung non-small cell carcinoma MP:0008716 increased lung non-small cell carcinoma incidence MP:0008716 greater than the expected number of a heterogeneous aggregate of at least three distinct histological types of lung cancer, occurring in a specific population in a given time period MESH:C04.557.470.200.300 greater than the expected number of a lung carcinoma derived from stratified squamous epithelium, occurring in a specific population in a given time period MPheno.ontology lung SCC lung squamous cell carcinoma MP:0008717 increased lung squamous cell carcinoma incidence MP:0008717 greater than the expected number of a lung carcinoma derived from stratified squamous epithelium, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of a bronchogenic tumor of undifferentiated (anaplastic) cells of large size, occurring in a specific population in a given time period MPheno.ontology lung large cell carcinoma MP:0008718 increased lung large cell carcinoma incidence MP:0008718 greater than the expected number of a bronchogenic tumor of undifferentiated (anaplastic) cells of large size, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 reduced diffusion or accumulation of neutrophils in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions MPheno.ontology MP:0008719 impaired neutrophil recruitment MP:0008719 reduced diffusion or accumulation of neutrophils in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions https://orcid.org/0000-0003-3691-0324 defect in the movement of neutrophils guided by a specific chemical concentration gradient decreased neutrophil migration impaired neutrophil migration reduced neutrophil migration MPheno.ontology MP:0008720 impaired neutrophil chemotaxis MP:0008720 defect in the movement of neutrophils guided by a specific chemical concentration gradient https://orcid.org/0000-0003-3691-0324 deviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes MPheno.ontology MP:0008721 abnormal chemokine level MP:0008721 deviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes MESH:D12.644.276.374.200 anomaly in the production or cellular release of any of the class of pro-inflammatory cytokines that attract and activate leukocytes MPheno.ontology MP:0008722 abnormal chemokine secretion MP:0008722 anomaly in the production or cellular release of any of the class of pro-inflammatory cytokines that attract and activate leukocytes MESH:D12.644.276.374.200 reduced diffusion or accumulation of eosinophils in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions decreased eosinophil recruitment MPheno.ontology MP:0008723 impaired eosinophil recruitment MP:0008723 reduced diffusion or accumulation of eosinophils in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions https://orcid.org/0000-0003-3691-0324 defect in the movement of eosinophils guided by a specific chemical concentration gradient decreased eosinophil migration impaired eosinophil migration reduced eosinophil migration MPheno.ontology MP:0008724 impaired eosinophil chemotaxis MP:0008724 defect in the movement of eosinophils guided by a specific chemical concentration gradient https://orcid.org/0000-0003-3691-0324 increased average size of either one or both of the heart atria compared to the average for a particular population enlarged heart atria enlarged heart atrium increased cardiac atrium size increased heart atrial size MPheno.ontology MP:0008725 increased heart atrium size MP:0008725 increased average size of either one or both of the heart atria compared to the average for a particular population MESH:A07.541.358 https://orcid.org/0000-0002-6490-7723 increased size of the left upper chamber of the heart Fyler:3011 enlarged heart left atrium enlarged left atrium giant left atrium increased cardiac left atrium size increased heart LA size increased heart left atrial size MPheno.ontology MP:0008726 increased heart left atrium size MP:0008726 increased size of the left upper chamber of the heart https://orcid.org/0000-0003-3691-0324 increased size of the right upper chamber of the heart Fyler:1771 enlarged heart right atrium enlarged right atrium giant right atrium increased cardiac right atrium size increased heart RA size increased heart right atrial size MPheno.ontology MP:0008727 increased heart right atrium size MP:0008727 increased size of the right upper chamber of the heart https://orcid.org/0000-0003-3691-0324 greater number of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin MPheno.ontology MP:0008728 increased memory B cell number MP:0008728 greater number of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin CL:0000787 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 reduced number of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin MPheno.ontology MP:0008729 decreased memory B cell number MP:0008729 reduced number of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin CL:0000787 ISBN:0781735149 https://orcid.org/0000-0003-3691-0324 anomaly of the long bones of the digits resulting in some or all the bones being joined together fused digits fusion of phalanges phalanges fusion MPheno.ontology MP:0008730 fused phalanges MP:0008730 anomaly of the long bones of the digits resulting in some or all the bones being joined together MGI:llw2 any structural anomaly of pigment polymers in the hair shaft MPheno.ontology MP:0008731 abnormal hair shaft melanin granule morphology MP:0008731 any structural anomaly of pigment polymers in the hair shaft MGI:llw2 the number of pigment polymers in the hair shaft is less than normal MPheno.ontology MP:0008732 reduced hair shaft melanin granule number MP:0008732 the number of pigment polymers in the hair shaft is less than normal MGI:llw2 disruption in the regular arrangement of pigment polymers in the hair shaft MPheno.ontology MP:0008733 abnormal hair shaft melanin granule distribution MP:0008733 disruption in the regular arrangement of pigment polymers in the hair shaft MGI:llw2 less than the expected early reaction of the microcirculation to endotoxins such as LPS, characterized by movement of fluid and leukocytes from the blood into extravascular tissues and often resulting in death decreased sensitivity to endotoxic shock decreased sensitivity to endotoxin shock increased resistance to endotoxin shock decreased response to LPS induced shock MPheno.ontology MP:0008734 decreased susceptibility to endotoxin shock MP:0008734 less than the expected early reaction of the microcirculation to endotoxins such as LPS, characterized by movement of fluid and leukocytes from the blood into extravascular tissues and often resulting in death https://orcid.org/0000-0003-1980-3228 more than the expected early reaction of the microcirculation to endotoxins such as LPS, characterized by movement of fluid and leukocytes from the blood into extravascular tissues and often resulting in death decreased resistance to endotoxic shock decreased resistance to endotoxin shock increased sensitivity to endotoxic shock increased sensitivity to endotoxin shock increased susceptibility to endotoxic shock increased response to LPS induced shock MPheno.ontology MP:0008735 increased susceptibility to endotoxin shock MP:0008735 more than the expected early reaction of the microcirculation to endotoxins such as LPS, characterized by movement of fluid and leukocytes from the blood into extravascular tissues and often resulting in death https://orcid.org/0000-0003-1980-3228 disproportionately short or small limbs nanomelia MPheno.ontology MP:0008736 micromelia MP:0008736 disproportionately short or small limbs MGI:llw2 any functional anomaly of the organ that filters blood and stores red corpuscles and platelets MPheno.ontology MP:0008737 abnormal spleen physiology MP:0008737 any functional anomaly of the organ that filters blood and stores red corpuscles and platelets MGI:llw2 anomaly in the amount of iron present in the liver tissue abnormal hepatic iron level abnormal hepatic iron load abnormal liver iron load MPheno.ontology MP:0008738 abnormal liver iron level MP:0008738 anomaly in the amount of iron present in the liver tissue https://orcid.org/0000-0003-4606-0597 anomaly in the amount of iron present in the spleen tissue abnormal spleen iron load abnormal splenic iron level abnormal splenic iron load MPheno.ontology MP:0008739 abnormal spleen iron level MP:0008739 anomaly in the amount of iron present in the spleen tissue https://orcid.org/0000-0003-4606-0597 anomaly in the amount of iron present in the large or small intestinal tissue abnormal intestinal iron level MPheno.ontology MP:0008740 abnormal intestine iron level MP:0008740 anomaly in the amount of iron present in the large or small intestinal tissue https://orcid.org/0000-0003-4606-0597 anomaly in the amount of iron present in the heart tissue abnormal cardiac iron level MPheno.ontology MP:0008741 abnormal heart iron level MP:0008741 anomaly in the amount of iron present in the heart tissue https://orcid.org/0000-0003-4606-0597 anomaly in the amount of iron present in the kidney tissue abnormal renal iron level MPheno.ontology MP:0008742 abnormal kidney iron level MP:0008742 anomaly in the amount of iron present in the kidney tissue https://orcid.org/0000-0003-4606-0597 reduction in the amount of iron present in the liver tissue decreased hepatic iron level decreased hepatic iron load decreased liver iron load reduced hepatic iron level reduced liver iron level MPheno.ontology MP:0008743 decreased liver iron level MP:0008743 reduction in the amount of iron present in the liver tissue https://orcid.org/0000-0003-4606-0597 any anomaly in the process contributing to anergy in B cells, a state of functional inactivation which is part of B cell tolerance induction abnormal B lymphocyte anergy abnormal B-cell anergy abnormal B-lymphocyte anergy MPheno.ontology MP:0008744 abnormal B cell anergy MP:0008744 any anomaly in the process contributing to anergy in B cells, a state of functional inactivation which is part of B cell tolerance induction GO:0002515 any anomaly of the processes of B cell anergy that occur in the bone marrow abnormal central B lymphocyte anergy abnormal central B-cell anergy abnormal central B-lymphocyte anergy MPheno.ontology MP:0008745 abnormal central B cell anergy MP:0008745 any anomaly of the processes of B cell anergy that occur in the bone marrow GO:0002341 any anomaly of the processes of B cell anergy that occur outside the bone marrow abnormal peripheral B lymphocyte anergy abnormal peripheral B-cell anergy abnormal peripheral B-lymphocyte anergy MPheno.ontology MP:0008746 abnormal peripheral B cell anergy MP:0008746 any anomaly of the processes of B cell anergy that occur outside the bone marrow GO:0002453 any anomaly in the process contributing to anergy in T cells, a state of functional inactivation which is part of T cell tolerance induction abnormal T lymphocyte anergy abnormal T-cell anergy abnormal T-lymphocyte anergy MPheno.ontology MP:0008747 abnormal T cell anergy MP:0008747 any anomaly in the process contributing to anergy in T cells, a state of functional inactivation which is part of T cell tolerance induction GO:0002870 any anomaly of the processes of T cell anergy that occur in the thymus abnormal central T lymphocyte anergy abnormal central T-cell anergy abnormal central T-lymphocyte anergy MPheno.ontology MP:0008748 abnormal central T cell anergy MP:0008748 any anomaly of the processes of T cell anergy that occur in the thymus https://orcid.org/0000-0003-1980-3228 any anomaly of the processes of T cell anergy that occur outside the thymus abnormal peripheral T lymphocyte anergy abnormal peripheral T-cell anergy abnormal peripheral T-lymphocyte anergy MPheno.ontology MP:0008749 abnormal peripheral T cell anergy MP:0008749 any anomaly of the processes of T cell anergy that occur outside the thymus https://orcid.org/0000-0003-1980-3228 deviation from the normal levels of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions MPheno.ontology MP:0008750 abnormal interferon level MP:0008750 deviation from the normal levels of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions MESH:D12.644.276.374.440 deviation from the normal levels of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types; they enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli MPheno.ontology MP:0008751 abnormal interleukin level MP:0008751 deviation from the normal levels of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types; they enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli MESH:D12.644.276.374.465 deviation from the normal levels of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium abnormal TNF level abnormal TNFA level abnormal cachectin level abnormal tumor necrosis factor alpha level abnormal tumour necrosis factor alpha level abnormal tumour necrosis factor level MPheno.ontology MP:0008752 abnormal tumor necrosis factor level MP:0008752 deviation from the normal levels of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium MESH:D12.644.276.374.500.800 any structural anomaly of a mature osteoblast that has become embedded in the bone matrix (osteoid) in a small cavity called lacuna and that extends cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi MPheno.ontology MP:0008753 abnormal osteocyte morphology MP:0008753 any structural anomaly of a mature osteoblast that has become embedded in the bone matrix (osteoid) in a small cavity called lacuna and that extends cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi PMID:24042263 any anomaly in the process by which T cell receptor V, D, and J, or V and J gene segments, depending on the specific locus, are recombined within a single locus abnormal T cell receptor V(D)J joining abnormal T cell receptor V(D)J rearrangement abnormal T cell receptor V-D-J joining abnormal T cell receptor V-D-J rearrangement abnormal T cell receptor V-D-J recombination abnormal T cell receptor V-J joining abnormal T cell receptor V-J rearrangement abnormal T cell receptor V-J recombination abnormal T-cell receptor V(D)J recombination abnormal TCR V(D)J recombination MPheno.ontology MP:0008754 abnormal T cell receptor V(D)J recombination MP:0008754 any anomaly in the process by which T cell receptor V, D, and J, or V and J gene segments, depending on the specific locus, are recombined within a single locus GO:0033153 https://orcid.org/0000-0003-1980-3228 any anomaly in the process by which immunoglobulin V, D, and J or V and J gene segments, depending on the specific locus, are recombined within a single locus abnormal immunoglobulin V(D)J joining abnormal immunoglobulin V(D)J rearrangement abnormal immunoglobulin V-D-J joining abnormal immunoglobulin V-D-J rearrangement abnormal immunoglobulin V-D-J recombination abnormal immunoglobulin V-J joining abnormal immunoglobulin V-J rearrangement abnormal immunoglobulin V-J recombination MPheno.ontology MP:0008755 abnormal immunoglobulin V(D)J recombination MP:0008755 any anomaly in the process by which immunoglobulin V, D, and J or V and J gene segments, depending on the specific locus, are recombined within a single locus GO:0033152 https://orcid.org/0000-0003-1980-3228 any anomaly in the process by which V and J gene segments of the T cell receptor alpha chain are recombined abnormal T cell receptor alpha chain V-J joining abnormal T cell receptor alpha chain V-J rearrangement MPheno.ontology MP:0008756 abnormal T cell receptor alpha chain V-J recombination MP:0008756 any anomaly in the process by which V and J gene segments of the T cell receptor alpha chain are recombined https://orcid.org/0000-0003-1980-3228 any anomaly in the process by which V and J gene segments of the T cell receptor gamma chain are recombined abnormal T cell receptor gamma chain V-J joining abnormal T cell receptor gamma chain V-J rearrangement MPheno.ontology MP:0008757 abnormal T cell receptor gamma chain V-J recombination MP:0008757 any anomaly in the process by which V and J gene segments of the T cell receptor gamma chain are recombined https://orcid.org/0000-0003-1980-3228 any anomaly in the process by which V, D, and J segments of the T cell receptor beta chain are recombined abnormal T cell receptor beta chain V(D)J joining abnormal T cell receptor beta chain V(D)J rearrangement abnormal T cell receptor beta chain V-D-J joining abnormal T cell receptor beta chain V-D-J rearrangement abnormal T cell receptor beta chain V-D-J recombination abnormal T-cell receptor beta chain V(D)J recombination abnormal TCR beta chain V(D)J recombination MPheno.ontology MP:0008758 abnormal T cell receptor beta chain V(D)J recombination MP:0008758 any anomaly in the process by which V, D, and J segments of the T cell receptor beta chain are recombined https://orcid.org/0000-0003-1980-3228 any anomaly in the process by which V, D, and J segments of the T cell receptor delta chain are recombined abnormal T cell receptor delta chain V(D)J joining abnormal T cell receptor delta chain V(D)J rearrangement abnormal T cell receptor delta chain V-D-J joining abnormal T cell receptor delta chain V-D-J rearrangement abnormal T cell receptor delta chain V-D-J recombination abnormal T-cell receptor delta chain V(D)J recombination abnormal TCR delta chain V(D)J recombination MPheno.ontology MP:0008759 abnormal T cell receptor delta chain V(D)J recombination MP:0008759 any anomaly in the process by which V, D, and J segments of the T cell receptor delta chain are recombined https://orcid.org/0000-0003-1980-3228 any anomaly in the process by which V, D, and J gene segments of the immunoglobulin heavy chain are recombined abnormal immunoglobulin heavy chain V(D)J joining abnormal immunoglobulin heavy chain V(D)J rearrangement abnormal immunoglobulin heavy chain V-D-J joining abnormal immunoglobulin heavy chain V-D-J rearrangement abnormal immunoglobulin heavy chain V-D-J recombination MPheno.ontology MP:0008760 abnormal immunoglobulin heavy chain V(D)J recombination MP:0008760 any anomaly in the process by which V, D, and J gene segments of the immunoglobulin heavy chain are recombined https://orcid.org/0000-0003-1980-3228 any anomaly in the process by which V and J gene segments of the immunoglobulin light chain are recombined abnormal immunoglobulin light chain V-J joining abnormal immunoglobulin light chain V-J rearrangement MPheno.ontology MP:0008761 abnormal immunoglobulin light chain V-J recombination MP:0008761 any anomaly in the process by which V and J gene segments of the immunoglobulin light chain are recombined https://orcid.org/0000-0003-1980-3228 death of an animal within the embryonic period prior to organogenesis (Mus: prior to E14) embryonic death MPheno.ontology MP:0008762 Note that a term with the former name embryonic lethality exists as MP:0002080. In many species, the terms prenatal lethality and embryonic lethality are used interchangeably. However, this is not technically correct and we have modified this ontology to define the prenatal period to include the embryonic stages distinctly from the fetal stages. The names embryonic lethality and embryonic death have been retained as a narrow synonyms for the prenatal lethality term to aid in searching for those species that may use these terms as synonyms. embryonic lethality MP:0008762 death of an animal within the embryonic period prior to organogenesis (Mus: prior to E14) https://orcid.org/0000-0003-3691-0324 abnormalities in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell abnormal mast cell granule exocytosis MPheno.ontology MP:0008763 abnormal mast cell degranulation MP:0008763 abnormalities in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell GO:0043303 https://orcid.org/0000-0003-1980-3228 increase in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell increased mast cell granule exocytosis MPheno.ontology MP:0008764 increased mast cell degranulation MP:0008764 increase in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell GO:0043303 https://orcid.org/0000-0003-1980-3228 reduction in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell decreased mast cell granule exocytosis reduced mast cell degranulation reduced mast cell granule exocytosis MPheno.ontology MP:0008765 decreased mast cell degranulation MP:0008765 reduction in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell GO:0043303 https://orcid.org/0000-0003-1980-3228 any anomaly in the process of replacing receptors on B cells, in which RAG gene expression allows continued light-chain gene rearrangement and expression of a new light change which combines with the previous heavy chain to form a new receptor abnormal B lymphocyte receptor editing abnormal B-cell receptor editing abnormal B-lymphocyte receptor editing MPheno.ontology MP:0008766 abnormal B cell receptor editing MP:0008766 any anomaly in the process of replacing receptors on B cells, in which RAG gene expression allows continued light-chain gene rearrangement and expression of a new light change which combines with the previous heavy chain to form a new receptor GO:0002452 https://orcid.org/0000-0003-1980-3228 septa-forming cells of hair medulla are abnormal in size or arrangement MPheno.ontology MP:0008767 abnormal hair medullary septa cells MP:0008767 septa-forming cells of hair medulla are abnormal in size or arrangement ISBN:0-8493-8372-2 MGI:llw2 air spaces between septa-forming cells of hair medulla are larger or smaller than normal MPheno.ontology MP:0008768 abnormal hair medulla air spaces MP:0008768 air spaces between septa-forming cells of hair medulla are larger or smaller than normal ISBN:0-8493-8372-2 MGI:llw2 any functional anomaly of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli; plasmacytoid dendritic cells are found in the thymic medulla and lymph node T cell areas and are responsible for immune tolerance MPheno.ontology MP:0008769 abnormal plasmacytoid dendritic cell physiology MP:0008769 any functional anomaly of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli; plasmacytoid dendritic cells are found in the thymic medulla and lymph node T cell areas and are responsible for immune tolerance https://orcid.org/0000-0003-3691-0324 a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls decreased survival rate low survival rate low survivor rate reduced survival rate reduced survivor rate MPheno.ontology reduced viability MP:0008770 This term is used in conjunction with other lethality terms when the lethality is only partially expressed. For example, use this term when some individuals of a defined population die as embryos, neonates or by weaning, with some percentage of individuals surviving the lethal phase and achieving a normal life span. decreased survivor rate MP:0008770 a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls MGI:llw2 increased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord elongated spinal axis elongated spinal column increased vertebral column length long spinal axis long spinal column MPheno.ontology MP:0008771 elongated vertebral column MP:0008771 increased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord MGI:brs https://orcid.org/0000-0003-3691-0324 increased average size of one or both heart ventricles compared to the average for a particular population MPheno.ontology enlarged heart ventricle MP:0008772 increased heart ventricle size MP:0008772 increased average size of one or both heart ventricles compared to the average for a particular population MGI:rbabiuk true MP:0008773 true MP:0008774 any anomaly in the pressure within a cardiac ventricle abnormal cardiac ventricular pressure abnormal heart intraventricular pressure abnormal heart ventricular pressure MPheno.ontology MP:0008775 Ventricular pressure waveforms can be measured in the beating heart by catheterization or estimated using imaging techniques (e.g., Doppler echocardiography). The information is useful in evaluating the function of the myocardium, cardiac valves and pericardium, particularly with simultaneous measurement of other (e.g., aortic or atrial) pressures. abnormal heart ventricle pressure MP:0008775 any anomaly in the pressure within a cardiac ventricle MESH:G09.330.553.660.937 increase in the difference between right ventricular systolic and diastolic pressures increased RVPP increased right ventricular peak pressure right ventricular pulse pressure MPheno.ontology MP:0008776 increased right ventricle peak pressure MP:0008776 increase in the difference between right ventricular systolic and diastolic pressures https://orcid.org/0000-0003-3691-0324 increase in the pressure of the right ventricle between heart beats when the heart is relaxed increased RVP increased right ventricular diastolic pressure MPheno.ontology MP:0008777 increased right ventricle diastolic pressure MP:0008777 increase in the pressure of the right ventricle between heart beats when the heart is relaxed https://orcid.org/0000-0003-3691-0324 any anomaly in the formation of lymphatic vessels from pre-existing lymphatic vessels MPheno.ontology MP:0008778 Do not use for the initial specification of lymphatic vessels in early development; use for the remodeling of pre-existing lymphatic vessels. This term is similar to angiogenesis for blood vessel remodeling. abnormal lymphangiogenesis MP:0008778 any anomaly in the formation of lymphatic vessels from pre-existing lymphatic vessels MESH:G07.574.500.325.377.500 any anomaly in any response from the mother or attending female related to the ability of young to thrive abnormal maternal behaviour MPheno.ontology MP:0008779 abnormal maternal behavior MP:0008779 any anomaly in any response from the mother or attending female related to the ability of young to thrive MGI:llw2 greater than the expected number of an adenocarcinoma arising from cells of the pancreas that secrete digestive enzymes, occurring in a specific population in a given time period increased pancreatic acinar cell adenocarcinoma incidence MPheno.ontology acinar carcinoma pancreatic ACC pancreatic acinar carcinoma MP:0008780 increased pancreatic acinar cell carcinoma incidence MP:0008780 greater than the expected number of an adenocarcinoma arising from cells of the pancreas that secrete digestive enzymes, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 change in the timing or the number of B cells undergoing programmed cell death abnormal B lymphocyte apoptosis abnormal B-cell apoptosis abnormal B-lymphocyte apoptosis MPheno.ontology MP:0008781 abnormal B cell apoptosis MP:0008781 change in the timing or the number of B cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 increase in the timing or the number of B cells undergoing programmed cell death increased B lymphocyte apoptosis increased B-cell apoptosis increased B-lymphocyte apoptosis MPheno.ontology MP:0008782 increased B cell apoptosis MP:0008782 increase in the timing or the number of B cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 reduction in the timing or the number of B cells undergoing programmed cell death decreased B lymphocyte apoptosis decreased B-cell apoptosis decreased B-lymphocyte apoptosis reduced B lymphocyte apoptosis reduced B-cell apoptosis reduced B-lymphocyte apoptosis MPheno.ontology MP:0008783 decreased B cell apoptosis MP:0008783 reduction in the timing or the number of B cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 the most severe form of neural tube defect leaving the neural tube open from the midbrain or rostral hindbrain to the base of the spine; in mammals, craniorachischisis arises as a failure of a de novo closure event occurring during primary neurulation at the boundary of the future hindbrain and cervical spine (day 22 postfertilization in humans and E8.5 in mice); craniorachischisis totalis, the most complete form of craniorachischisis, presents anencephaly and total spina bifida together and is lethal CRN MPheno.ontology MP:0008784 craniorachischisis MP:0008784 the most severe form of neural tube defect leaving the neural tube open from the midbrain or rostral hindbrain to the base of the spine; in mammals, craniorachischisis arises as a failure of a de novo closure event occurring during primary neurulation at the boundary of the future hindbrain and cervical spine (day 22 postfertilization in humans and E8.5 in mice); craniorachischisis totalis, the most complete form of craniorachischisis, presents anencephaly and total spina bifida together and is lethal https://orcid.org/0000-0002-6490-7723 any structural anomaly of the broad, handle-like part of the sternum which articulates with the clavicles and the first two pairs of ribs abnormal manubrium of sternum morphology abnormal sternal manubrium morphology sternal manubrium dysplasia MPheno.ontology MP:0008785 abnormal sternum manubrium morphology MP:0008785 any structural anomaly of the broad, handle-like part of the sternum which articulates with the clavicles and the first two pairs of ribs https://orcid.org/0000-0002-6490-7723 any structural anomaly of the caudal portion of the primitive digestive tube of the embryo MPheno.ontology hindgut dysplasia MP:0008786 abnormal hindgut morphology MP:0008786 any structural anomaly of the caudal portion of the primitive digestive tube of the embryo MGI:llw2 any structural anomaly of the extension of the hindgut of the primitive digestive tube of the embryo, caudal to the location of the anal opening abnormal postanal gut morphology MPheno.ontology MP:0008787 abnormal tailgut morphology MP:0008787 any structural anomaly of the extension of the hindgut of the primitive digestive tube of the embryo, caudal to the location of the anal opening MGI:llw2 any structural anomaly of fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes abnormal cardiomyoblast morphology abnormal foetal cardiomyocyte morphology MPheno.ontology MP:0008788 abnormal fetal cardiomyocyte morphology MP:0008788 any structural anomaly of fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes PMID:17429040 any structural anomaly of the epithelial cells that line the interior of the nose MP:0006091 abnormal nasal epithelium morphology olfactory epithelium dysplasia MPheno.ontology MP:0008789 abnormal olfactory epithelium morphology MP:0008789 any structural anomaly of the epithelial cells that line the interior of the nose https://orcid.org/0000-0003-4606-0597 anomaly in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells MPheno.ontology MP:0008790 abnormal NK cell degranulation MP:0008790 anomaly in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells MGI:brs reduction in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells reduced NK cell degranulation MPheno.ontology MP:0008791 decreased NK cell degranulation MP:0008791 reduction in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells MGI:brs increase in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells MPheno.ontology MP:0008792 increased NK cell degranulation MP:0008792 increase in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells MGI:brs anomaly in the number of lens epithelial cells undergoing programmed cell death MPheno.ontology MP:0008793 abnormal lens epithelium apoptosis MP:0008793 anomaly in the number of lens epithelial cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 increase in the number of lens epithelial cells undergoing programmed cell death MPheno.ontology MP:0008794 increased lens epithelium apoptosis MP:0008794 increase in the number of lens epithelial cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 anomaly in the number of lens fibers cells undergoing programmed cell death abnormal lens fibre apoptosis MPheno.ontology MP:0008795 abnormal lens fiber apoptosis MP:0008795 anomaly in the number of lens fibers cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 increase in the number of lens fibers cells undergoing programmed cell death increased lens fibre apoptosis MPheno.ontology MP:0008796 increased lens fiber apoptosis MP:0008796 increase in the number of lens fibers cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 a cleft resulting from incomplete merging or fusion of any of the embryonic facial processes that normally unite to form the face Tessier Cleft prosopoanoschisis split face malformation split-face malformation MPheno.ontology MP:0008797 facial cleft MP:0008797 a cleft resulting from incomplete merging or fusion of any of the embryonic facial processes that normally unite to form the face https://orcid.org/0000-0003-3691-0324 presence of a primitive oral fissure (macrostomia) that extends into the anlage region of the ears, between the 1st and 2nd pharyngeal arches transverse facial cleft MPheno.ontology MP:0008798 lateral facial cleft MP:0008798 presence of a primitive oral fissure (macrostomia) that extends into the anlage region of the ears, between the 1st and 2nd pharyngeal arches https://orcid.org/0000-0003-3691-0324 presence of a facial fissure that runs from the lower lid edge to the lower edge of the nasal opening that results from a deficient fusion of the epithelium of the lacrimonasal duct MPheno.ontology MP:0008799 oblique facial cleft MP:0008799 presence of a facial fissure that runs from the lower lid edge to the lower edge of the nasal opening that results from a deficient fusion of the epithelium of the lacrimonasal duct https://orcid.org/0000-0003-3691-0324 increase in the number of small intestinal crypt cells undergoing programmed cell death MPheno.ontology MP:0008800 increased small intestinal crypt cell apoptosis MP:0008800 increase in the number of small intestinal crypt cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 any structural anomaly of a progenitor cell committed to the erythroid lineage abnormal erythroid stem cell morphology MPheno.ontology abnormal BFU-E morphology abnormal CFU-E morphology abnormal blast forming unit erythroid morphology abnormal burst forming unit erythroid morphology abnormal colony forming unit erythroid morphology MP:0008801 abnormal erythroid progenitor cell morphology MP:0008801 any structural anomaly of a progenitor cell committed to the erythroid lineage CL:0000038 any structural anomaly of the nonstriated, involuntary muscle tissue lining the intestine intestinal smooth muscle dysplasia MPheno.ontology MP:0008802 abnormal intestinal smooth muscle morphology MP:0008802 any structural anomaly of the nonstriated, involuntary muscle tissue lining the intestine https://orcid.org/0000-0003-3691-0324 any structural anomaly of blood vessels of the layer of the placenta where embryonic and maternal blood exchange nutrients and waste products placental labyrinth vasculature dysplasia MPheno.ontology MP:0008803 abnormal placental labyrinth vasculature morphology MP:0008803 any structural anomaly of blood vessels of the layer of the placenta where embryonic and maternal blood exchange nutrients and waste products https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood abnormal circulating diastase level MPheno.ontology MP:0008804 abnormal circulating amylase level MP:0008804 any anomaly in the concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood ISBN:0-683-40008-8 MESH:D08.811.277.450.066 abnormal circulating diastase level MESH:D08.811.277.450.066 reduction in the concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood decreased circulating diastase level reduced circulating amylase level MPheno.ontology MP:0008805 decreased circulating amylase level MP:0008805 reduction in the concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood ISBN:0-683-40008-8 MESH:D08.811.277.450.066 MGI:brs decreased circulating diastase level MESH:D08.811.277.450.066 greater concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood increased circulating diastase level MPheno.ontology MP:0008806 increased circulating amylase level MP:0008806 greater concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood ISBN:0-683-40008-8 MESH:D08.811.277.450.066 increased circulating diastase level MESH:D08.811.277.450.066 increase in the amount of iron present in the liver tissue increased hepatic iron level increased hepatic iron load increased liver iron load liver iron deposits MPheno.ontology MP:0008807 increased liver iron level MP:0008807 increase in the amount of iron present in the liver tissue https://orcid.org/0000-0003-4606-0597 reduction in the amount of iron present in the spleen tissue decreased spleen iron load decreased splenic iron level MPheno.ontology reduced spleen iron level reduced splenic iron load MP:0008808 decreased spleen iron level MP:0008808 reduction in the amount of iron present in the spleen tissue https://orcid.org/0000-0003-4606-0597 increase in the amount of iron present in the spleen tissue increased spleen iron load increased splenic iron level increased splenic iron load spleen iron deposits MPheno.ontology MP:0008809 increased spleen iron level MP:0008809 increase in the amount of iron present in the spleen tissue https://orcid.org/0000-0003-4606-0597 elevation in the concentration of iron in the blood hyperferraemia hyperferremia MPheno.ontology MP:0008810 Serum iron measures the total amount of iron in the blood, nearly all of which is bound to transferrin. increased circulating iron level MP:0008810 elevation in the concentration of iron in the blood https://orcid.org/0000-0003-4606-0597 any anomaly in the amount of iron present in the brain tissue MPheno.ontology MP:0008811 abnormal brain iron level MP:0008811 any anomaly in the amount of iron present in the brain tissue https://orcid.org/0000-0003-4606-0597 irregular or unusual pigmentation pattern of the rostral-to-caudal axis compared to control animals MPheno.ontology MP:0008812 abnormal rostrocaudal coat patterning MP:0008812 irregular or unusual pigmentation pattern of the rostral-to-caudal axis compared to control animals MGI:brs reduced number of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages reduced cfu-gemm number reduced common myeloid progenitor cell number MPheno.ontology decreased CFU-S decreased CMPs decreased multipotential myeloid stem cell number decreased myeloid stem cell number decreased pluripotent stem cell (bone marrow) number MP:0008813 decreased common myeloid progenitor cell number MP:0008813 reduced number of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages CL:0000049 MGI:llw2 decrease in the rate at which an electrical impulse travels through a nerve reduced nerve conduction velocity slowed nerve conduction MPheno.ontology MP:0008814 decreased nerve conduction velocity MP:0008814 decrease in the rate at which an electrical impulse travels through a nerve https://orcid.org/0000-0003-4606-0597 any structural anomaly resulting in bulging near the anterior pole of the eyeball MPheno.ontology MP:0008815 anterior staphyloma MP:0008815 any structural anomaly resulting in bulging near the anterior pole of the eyeball MGI:llw2 very small blood spots or splotches that appear especially in skin as a result of localized hemorrhage MPheno.ontology MP:0008816 petechiae MP:0008816 very small blood spots or splotches that appear especially in skin as a result of localized hemorrhage MGI:llw2 an abnormal localized accumulation of clotted or partially clotted blood in an organ or a soft tissue space as a result of localized hemorrhage haematoma MPheno.ontology MP:0008817 hematoma MP:0008817 an abnormal localized accumulation of clotted or partially clotted blood in an organ or a soft tissue space as a result of localized hemorrhage MGI:llw2 any structural anomaly or presence of a bone between the frontal bones in the skull; an extra bony plate within the anterior fontanelle that is not usually present interfrontal bone dysplasia MPheno.ontology MP:0008818 abnormal interfrontal bone morphology MP:0008818 any structural anomaly or presence of a bone between the frontal bones in the skull; an extra bony plate within the anterior fontanelle that is not usually present https://orcid.org/0000-0003-3691-0324 any anomaly in the process of biting and mashing food with the teeth prior to swallowing abnormal chewing MPheno.ontology MP:0008819 abnormal mastication MP:0008819 any anomaly in the process of biting and mashing food with the teeth prior to swallowing MGI:mberry aberrant concentration in the blood of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine MPheno.ontology abnormal blood urate level MP:0008820 abnormal blood uric acid level MP:0008820 aberrant concentration in the blood of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine MESH:D03.132.960.877 MGI:brs greater concentration in the blood of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine hyperuricaemia hyperuricemia MPheno.ontology increased blood urate level MP:0008821 increased blood uric acid level MP:0008821 greater concentration in the blood of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine MESH:D03.132.960.877 MGI:brs reduced concentration in the blood of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine hypouricaemia hypouricemia reduced blood uric acid level MPheno.ontology decreased blood urate level MP:0008822 decreased blood uric acid level MP:0008822 reduced concentration in the blood of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine MESH:D03.132.960.877 MGI:brs any structural anomaly of the membranous portion of the wall between the two lower chambers of the heart abnormal ventricular membranous septum morphology MPheno.ontology MP:0008823 abnormal interventricular septum membranous part morphology MP:0008823 any structural anomaly of the membranous portion of the wall between the two lower chambers of the heart https://orcid.org/0000-0003-4606-0597 absence of the membranous portion of the wall between the two lower chambers of the heart absent ventricular membranous septum MPheno.ontology MP:0008824 absent interventricular septum membranous part MP:0008824 absence of the membranous portion of the wall between the two lower chambers of the heart https://orcid.org/0000-0003-4606-0597 anomaly in the process by which endocardial cells of the atrioventricular canal or the outflow tract lose their epithelial characteristics, delaminate from the endocardial sheet, become migratory and invade the cardiac jelly, and develop mesenchymal characteristics eventually forming both the endocardial cushions required for septum and atrioventricular valve formation and the cushions of the outflow tract that form the conotruncal septum abnormal cardiac epithelial to mesenchymal transformation abnormal endocardial-mesenchymal transformation MPheno.ontology MP:0008825 abnormal cardiac epithelial to mesenchymal transition MP:0008825 anomaly in the process by which endocardial cells of the atrioventricular canal or the outflow tract lose their epithelial characteristics, delaminate from the endocardial sheet, become migratory and invade the cardiac jelly, and develop mesenchymal characteristics eventually forming both the endocardial cushions required for septum and atrioventricular valve formation and the cushions of the outflow tract that form the conotruncal septum PMID:17303760 deviation from the standard ratios of splenocyte subpopulations compared to control samples abnormal spleen cell ratio MPheno.ontology MP:0008826 abnormal splenic cell ratio MP:0008826 deviation from the standard ratios of splenocyte subpopulations compared to control samples MGI:mberry deviation from the standard ratios of thymocyte subpopulations compared to control samples abnormal thymic cell ratio MPheno.ontology MP:0008827 abnormal thymus cell ratio MP:0008827 deviation from the standard ratios of thymocyte subpopulations compared to control samples MGI:mberry deviation from the standard ratios of lymph node cell subpopulations compared to control samples MPheno.ontology MP:0008828 abnormal lymph node cell ratio MP:0008828 deviation from the standard ratios of lymph node cell subpopulations compared to control samples MGI:mberry anomaly in which three phalanges are present in the thumb or great toe MPheno.ontology MP:0008829 triphalangia MP:0008829 anomaly in which three phalanges are present in the thumb or great toe ISBN:0-683-40008-8 any structural anomaly of the small rounded nuclear substructure that produces ribonucleoprotein abnormal nucleolar morphology MPheno.ontology MP:0008830 abnormal nucleolus morphology MP:0008830 any structural anomaly of the small rounded nuclear substructure that produces ribonucleoprotein ISBN:0-683-40008-8 anomaly in the concentration of a polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities abnormal IGF-I level abnormal IGF1 level MPheno.ontology MP:0008831 abnormal insulin-like growth factor I level MP:0008831 anomaly in the concentration of a polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities MESH:D12.644.276.937.400 MGI:mberry a congenital malformation of the spine in which only half of a vertebral body develops hemi-vertebra hemi-vertebrae hemivertebrae MPheno.ontology MP:0008832 hemivertebra MP:0008832 a congenital malformation of the spine in which only half of a vertebral body develops ISBN:0-683-40008-8 a congenital malformation of the caudal vertebrae in which only half of the vertebral body develops MPheno.ontology MP:0008833 There are usually 27-30 caudal vertebrae present in rodents and only 3-5 fused caudal vertebrae in human. caudal hemivertebra MP:0008833 a congenital malformation of the caudal vertebrae in which only half of the vertebral body develops ISBN:0-683-40008-8 any anomaly in the directed movement of melanosomes into, out of, within or between cells abnormal melanin granule transport MPheno.ontology MP:0008834 abnormal melanosome transport MP:0008834 any anomaly in the directed movement of melanosomes into, out of, within or between cells GO:0032402 abnormal concentration of any regulatory protein or peptide that is a signaling molecule involved in the process of paracrine communication abnormal growth factor level abnormal paracrine peptide factor level abnormal paracrine protein factor level MPheno.ontology MP:0008835 These molecules are generally considered factors that are expressed by one cell and are responded to by receptors on another nearby cell. These are distinguished from hormones in that their actions are local rather than distal. abnormal intercellular signaling peptide or protein level MP:0008835 abnormal concentration of any regulatory protein or peptide that is a signaling molecule involved in the process of paracrine communication MESH:D12.644.276 abnormal concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function abnormal TGF-beta level abnormal TGFbeta level abnormal bone-derived transforming growth factor level abnormal milk growth factor level abnormal platelet transforming growth factor level MPheno.ontology MP:0008836 A factor synthesized in a wide variety of tissues. It acts synergistically with TGF-alpha in inducing phenotypic transformation and can also act as a negative autocrine growth factor. TGF-beta has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function. TGF-beta is found mostly as homodimer forms of separate gene products TGF-beta1, TGF-beta2 or TGF-beta3. Heterodimers composed of TGF-beta1 and 2 (TGF-beta1.2) or of TGF-beta2 and 3 (TGF-beta2.3) have been isolated. The TGF-beta proteins are synthesized as precursor proteins. (MESH:D12.644.276.374.687). abnormal transforming growth factor beta level MP:0008836 abnormal concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function MESH:D12.644.276.374.687 greater concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function increased TGF-beta level increased TGFbeta level increased bone-derived transforming growth factor level increased milk growth factor level increased platelet transforming growth factor level MPheno.ontology MP:0008837 A factor synthesized in a wide variety of tissues. It acts synergistically with TGF-alpha in inducing phenotypic transformation and can also act as a negative autocrine growth factor. TGF-beta has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function. TGF-beta is found mostly as homodimer forms of separate gene products TGF-beta1, TGF-beta2 or TGF-beta3. Heterodimers composed of TGF-beta1 and 2 (TGF-beta1.2) or of TGF-beta2 and 3 (TGF-beta2.3) have been isolated. The TGF-beta proteins are synthesized as precursor proteins. (MESH:D12.644.276.374.687). increased transforming growth factor beta level MP:0008837 greater concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function MESH:D12.644.276.374.687 reduced concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function decreased TGF-beta level decreased TGFbeta level decreased bone-derived transforming growth factor level decreased milk growth factor level decreased platelet transforming growth factor level reduced TGF-beta level reduced TGFbeta level reduced bone-derived transforming growth factor level reduced milk growth factor level reduced platelet transforming growth factor level MPheno.ontology MP:0008838 A factor synthesized in a wide variety of tissues. It acts synergistically with TGF-alpha in inducing phenotypic transformation and can also act as a negative autocrine growth factor. TGF-beta has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function. TGF-beta is found mostly as homodimer forms of separate gene products TGF-beta1, TGF-beta2 or TGF-beta3. Heterodimers composed of TGF-beta1 and 2 (TGF-beta1.2) or of TGF-beta2 and 3 (TGF-beta2.3) have been isolated. The TGF-beta proteins are synthesized as precursor proteins. (MESH:D12.644.276.374.687). decreased transforming growth factor beta level MP:0008838 reduced concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function MESH:D12.644.276.374.687 mature spermatozoa lack the cap-like structure at the anterior end of the sperm head that produces enzymes needed for egg penetration absent acrosomal granule absent acrosomal vesicle MPheno.ontology MP:0008839 absent acrosome MP:0008839 mature spermatozoa lack the cap-like structure at the anterior end of the sperm head that produces enzymes needed for egg penetration MESH:A05.360.490.890.820.100 MGI:llw2 anomaly in the characteristic epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy abnormal SWDs abnormal spike and wave discharge abnormal spike-and-wave discharge abnormal spike-wave discharge MPheno.ontology MP:0008840 abnormal spike wave discharge MP:0008840 anomaly in the characteristic epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy PMID:16725200 a break or tear in the elastic, clear, membrane-like structure, that is outer most layer of the lens MPheno.ontology MP:0008841 ruptured lens capsule MP:0008841 a break or tear in the elastic, clear, membrane-like structure, that is outer most layer of the lens MGI:llw2 accumulation of intracellular autofluorescent material, in the form of brownish fatty pigment, in lysosomes as a normal part of senescence or aging MPheno.ontology MP:0008842 lipofuscinosis MP:0008842 accumulation of intracellular autofluorescent material, in the form of brownish fatty pigment, in lysosomes as a normal part of senescence or aging PMID:16455164 absence of adipose tissue beneath the skin absent hypodermal fat layer absent panniculus adiposus absent subcutaneous fat layer MPheno.ontology MP:0008843 absent subcutaneous adipose tissue MP:0008843 absence of adipose tissue beneath the skin https://orcid.org/0000-0003-3691-0324 reduction in amount of adipose tissue beneath the skin reduced subcutaneous adipose tissue amount MPheno.ontology MP:0008844 decreased subcutaneous adipose tissue amount MP:0008844 reduction in amount of adipose tissue beneath the skin https://orcid.org/0000-0003-3691-0324 any structural anomaly of a group of magnocellular neurons located in the periventricular zone of the anterior half of the hypothalamus abnormal hypothalamic paraventricular nucleus morphology abnormal paraventricular nucleus morphology paraventricular hypothalamic nucleus dysplasia MPheno.ontology MP:0008845 abnormal paraventricular hypothalamic nucleus morphology MP:0008845 any structural anomaly of a group of magnocellular neurons located in the periventricular zone of the anterior half of the hypothalamus ISBN:0-683-40008-8 any structural anomaly of a group of cells in the hypothalamus located over the lateral border of the optic tract; neurons produce and transport vasopressin supraoptic nucleus dysplasia MPheno.ontology MP:0008846 abnormal supraoptic nucleus morphology MP:0008846 any structural anomaly of a group of cells in the hypothalamus located over the lateral border of the optic tract; neurons produce and transport vasopressin ISBN:0-683-40008-8 any structural anomaly of an ovoid densely packed collection of small cells of the anterior hypothalamus lying close to the midline in a shallow impression of the optic chiasm; it receives input from the retina and influences neuroendocrine function suprachiasmatic nucleus dysplasia MPheno.ontology MP:0008847 abnormal suprachiasmatic nucleus morphology MP:0008847 any structural anomaly of an ovoid densely packed collection of small cells of the anterior hypothalamus lying close to the midline in a shallow impression of the optic chiasm; it receives input from the retina and influences neuroendocrine function ISBN:0-683-40008-8 MESH:A08.186.211.730.317.357.342.625 any structural anomaly of a loose heterogeneous collection of cells in the anterior hypothalamus, continuous rostrally with the medial and lateral preoptic areas and caudally with the tuber cinereum abnormal anterior hypothalamic area morphology anterior hypothalamic nucleus dysplasia MPheno.ontology MP:0008848 abnormal anterior hypothalamic nucleus morphology MP:0008848 any structural anomaly of a loose heterogeneous collection of cells in the anterior hypothalamus, continuous rostrally with the medial and lateral preoptic areas and caudally with the tuber cinereum MESH:A08.186.211.730.317.357.342.063 anomaly in the standard deviation of the distribution of erythrocytes by their cellular (individual) hemoglobin concentrations abnormal HDW abnormal haemoglobin concentration distribution width MPheno.ontology MP:0008849 abnormal hemoglobin concentration distribution width MP:0008849 anomaly in the standard deviation of the distribution of erythrocytes by their cellular (individual) hemoglobin concentrations MGI:brs higher than normal standard deviation of the distribution of erythrocytes by their cellular (individual) hemoglobin concentrations; high HDW is indicative of some types of anemia/thalassemia increased HDW increased haemoglobin concentration distribution width MPheno.ontology MP:0008850 increased hemoglobin concentration distribution width MP:0008850 higher than normal standard deviation of the distribution of erythrocytes by their cellular (individual) hemoglobin concentrations; high HDW is indicative of some types of anemia/thalassemia MGI:brs lower than normal standard deviation of the distribution of erythrocytes by their cellular (individual) hemoglobin concentrations decreased HDW decreased haemoglobin concentration distribution width MPheno.ontology MP:0008851 decreased hemoglobin concentration distribution width MP:0008851 lower than normal standard deviation of the distribution of erythrocytes by their cellular (individual) hemoglobin concentrations MGI:brs formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina retinal neovascularization MPheno.ontology MP:0008852 retina neovascularization MP:0008852 formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina MESH:C11.768.725 reduction in amount of adipose tissue associated with internal organs reduced abdominal adipose tissue amount MPheno.ontology MP:0008853 decreased abdominal adipose tissue amount MP:0008853 reduction in amount of adipose tissue associated with internal organs https://orcid.org/0000-0003-3691-0324 presence of a blister-like, nearly hemispherical structure filled with air, serous fluid or blood blistering bulla MPheno.ontology MP:0008854 bleb MP:0008854 presence of a blister-like, nearly hemispherical structure filled with air, serous fluid or blood MGI:llw2 presence of blister-like structures formed in the eye during embryonic development that are usually filled with blood MPheno.ontology MP:0008855 eye bleb MP:0008855 presence of blister-like structures formed in the eye during embryonic development that are usually filled with blood MGI:llw2 presence of subepidermal blister-like structures on the skin, often on the head, formed during embryonic development and usually filled with blood foetal bleb MPheno.ontology MP:0008856 fetal bleb MP:0008856 presence of subepidermal blister-like structures on the skin, often on the head, formed during embryonic development and usually filled with blood MGI:llw2 presence of blister-like structures formed on the posterior portion of the embryonic hindbrain that are usually filled with blood MPheno.ontology MP:0008857 myelencephalic blebs MP:0008857 presence of blister-like structures formed on the posterior portion of the embryonic hindbrain that are usually filled with blood MGI:llw2 anomaly in the growth phase of the hair cycle MPheno.ontology MP:0008858 abnormal hair cycle anagen phase MP:0008858 anomaly in the growth phase of the hair cycle MGI:llw2 anomaly in the phase of the hair growth cycle during which cell proliferation ceases, the hair follicle shortens, and an anchored hair is produced MPheno.ontology MP:0008859 abnormal hair cycle catagen phase MP:0008859 anomaly in the phase of the hair growth cycle during which cell proliferation ceases, the hair follicle shortens, and an anchored hair is produced MGI:llw2 anomaly in the resting or quiescent phase of the hair growth cycle which follows cessation of proliferation (catagen) and precedes hair loss MPheno.ontology MP:0008860 abnormal hair cycle telogen phase MP:0008860 anomaly in the resting or quiescent phase of the hair growth cycle which follows cessation of proliferation (catagen) and precedes hair loss MGI:llw2 anomaly in the hair cycle changes the timing of the hair loss that normally follows the anagen phase MPheno.ontology MP:0008861 abnormal hair shedding MP:0008861 anomaly in the hair cycle changes the timing of the hair loss that normally follows the anagen phase MGI:llw2 presence of a snout that lacks mirrored identity on either side of the median plane snout asymmetry MPheno.ontology MP:0008862 asymmetric snout MP:0008862 presence of a snout that lacks mirrored identity on either side of the median plane MGI:mberry head or facial features that lack mirrored identity on either side of the median plane MPheno.ontology MP:0008863 craniofacial asymmetry MP:0008863 head or facial features that lack mirrored identity on either side of the median plane MGI:mberry any anomaly in the quantity or rate of any substance transported from intestinal cells into the lumen of the intestine MPheno.ontology MP:0008864 abnormal intestinal secretion MP:0008864 any anomaly in the quantity or rate of any substance transported from intestinal cells into the lumen of the intestine https://orcid.org/0000-0003-4606-0597 true MP:0008865 abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity MPheno.ontology genomic instability MP:0008866 chromosomal instability MP:0008866 abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity MGI:llw2 PMID:12446840 abnormal assortment of chromosomes from parent to offspring whereby the chromosome number is correct, but both members of a chromosome pair or segments of a chromosome pair are inherited from the same parent MPheno.ontology MP:0008867 uniparental disomy MP:0008867 abnormal assortment of chromosomes from parent to offspring whereby the chromosome number is correct, but both members of a chromosome pair or segments of a chromosome pair are inherited from the same parent MGI:llw2 any structural anomaly of a supporting cell for the developing female gamete in the ovary of mammals; granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle granulosa cell dysplasia MPheno.ontology MP:0008868 abnormal granulosa cell morphology MP:0008868 any structural anomaly of a supporting cell for the developing female gamete in the ovary of mammals; granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle MESH:A.05.360.319.114.630.535.200 complete failure of ovum to be released from an ovarian follicle absence of ovulation absent ovulation MPheno.ontology MP:0008869 anovulation MP:0008869 complete failure of ovum to be released from an ovarian follicle MESH:C13.351.500.056.630.050 https://orcid.org/0000-0003-0431-8641 than normal numbers of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle MPheno.ontology MP:0008870 increased mature ovarian follicle number MP:0008870 than normal numbers of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 abnormal numbers of spheroid cell aggregations in the ovary abnormal growing ovarian follicle number MPheno.ontology MP:0008871 abnormal ovarian follicle number MP:0008871 abnormal numbers of spheroid cell aggregations in the ovary https://orcid.org/0000-0003-0431-8641 any anomaly in the physiological or morphological changes induced by a compound foreign to living organisms such as changes in blood pressure, changes in hormone or protein levels or hypertrophy or hypotrophy of an organ abnormal physiological response to xenobiotics MPheno.ontology abnormal response to xenobiotics MP:0008872 abnormal physiological response to xenobiotic MP:0008872 any anomaly in the physiological or morphological changes induced by a compound foreign to living organisms such as changes in blood pressure, changes in hormone or protein levels or hypertrophy or hypotrophy of an organ https://orcid.org/0000-0003-4606-0597 decrease in the dose or concentration of a compound foreign to living organisms required to induce a specific level of physiological response or increase in the severity of physiological response to a given dose or concentration of a compound foreign to living organisms decreased resistance to xenobiotics increased physiological sensitivity to xenobiotics increased susceptibility to xenobiotics MPheno.ontology MP:0008873 increased physiological sensitivity to xenobiotic MP:0008873 decrease in the dose or concentration of a compound foreign to living organisms required to induce a specific level of physiological response or increase in the severity of physiological response to a given dose or concentration of a compound foreign to living organisms https://orcid.org/0000-0003-4606-0597 increase in the dose or concentration of a compound foreign to living organisms required to induce a specific level of physiological response or decrease in the severity of physiological response to a given dose or concentration of a compound foreign to living organisms decreased physiological sensitivity to xenobiotics decreased susceptibility to xenobiotics increased resistance to xenobiotics MPheno.ontology MP:0008874 decreased physiological sensitivity to xenobiotic MP:0008874 increase in the dose or concentration of a compound foreign to living organisms required to induce a specific level of physiological response or decrease in the severity of physiological response to a given dose or concentration of a compound foreign to living organisms https://orcid.org/0000-0003-4606-0597 any anomaly in the absorption, distribution, metabolism or elimination of a compound foreign to living organisms abnormal pharmacokinetics of xenobiotics MPheno.ontology MP:0008875 abnormal xenobiotic pharmacokinetics MP:0008875 any anomaly in the absorption, distribution, metabolism or elimination of a compound foreign to living organisms https://orcid.org/0000-0003-4606-0597 reduced cell number of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy CL:0002343 decreased GMG cell number decreased dNK cell number decreased decidual NK cell number decreased decidual natural killer cell number decreased granulated metrial gland cell number decreased uNK cell number decreased uterine natural killer cell number reduced GMG cell number reduced dNK cell number reduced decidual NK cell number reduced decidual natural killer cell number reduced granulated metrial gland cell number reduced uNK cell number reduced uterine natural killer cell number MPheno.ontology MP:0008876 decreased uterine NK cell number MP:0008876 reduced cell number of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy PMID:14568979 PMID:19800965 any anomaly in the covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine of DNA MPheno.ontology MP:0008877 abnormal DNA methylation MP:0008877 any anomaly in the covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine of DNA GO:0006306 any anomaly of the covalent transfer of a methyl group to C-5 of cytosine during gamete generation, when DNA methylation patterns are established abnormal de novo DNA methylation MPheno.ontology MP:0008878 abnormal DNA methylation during gametogenesis MP:0008878 any anomaly of the covalent transfer of a methyl group to C-5 of cytosine during gamete generation, when DNA methylation patterns are established GO:0043046 local accumulation of fluid, plasma proteins, and leukocytes in either of the large major salivary glands situated beneath the mandible submaxillary gland inflammation MPheno.ontology MP:0008879 submandibular gland inflammation MP:0008879 local accumulation of fluid, plasma proteins, and leukocytes in either of the large major salivary glands situated beneath the mandible https://orcid.org/0000-0003-3691-0324 local accumulation of fluid, plasma proteins, and leukocytes in the glands that secrete tears dacryoadenitis MPheno.ontology MP:0008880 lacrimal gland inflammation MP:0008880 local accumulation of fluid, plasma proteins, and leukocytes in the glands that secrete tears https://orcid.org/0000-0003-3691-0324 absence of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane MPheno.ontology MP:0008881 The Harderian gland does not normally exist in some types of mammals (bats, cows and horses), terrestrial carnivores, and higher primates including human. absent Harderian gland MP:0008881 absence of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane ISBN:0486631850 any functional anomaly of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen abnormal intestinal cell physiology abnormal intestinal epithelial cell physiology MPheno.ontology MP:0008882 abnormal enterocyte physiology MP:0008882 any functional anomaly of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen CL:0000584 https://orcid.org/0000-0003-3691-0324 anomaly in the ability of the enterocyte cell population to undergo expansion by cell division abnormal intestinal cell proliferation abnormal intestinal epithelial cell proliferation MPheno.ontology MP:0008883 abnormal enterocyte proliferation MP:0008883 anomaly in the ability of the enterocyte cell population to undergo expansion by cell division https://orcid.org/0000-0003-3691-0324 change in the timing or the number of enterocytes undergoing programmed cell death abnormal intestinal epithelial cell apoptosis MPheno.ontology MP:0008884 abnormal enterocyte apoptosis MP:0008884 change in the timing or the number of enterocytes undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 increase in the timing or the number of enterocytes undergoing programmed cell death increased intestinal cell apoptosis increased intestinal epithelial cell apoptosis MPheno.ontology MP:0008885 increased enterocyte apoptosis MP:0008885 increase in the timing or the number of enterocytes undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 alteration in structure, number or location of the subnuclear structures associated with functions including transcription, DNA repair, viral defense, stress, cell cycle regulation, proteolysis and apoptosis abnormal Kr bodies abnormal ND10 morphology abnormal PML NBs abnormal Promyelocytic leukaemia nuclear body abnormal SP-100 bodies abnormal nuclear dot morphology MPheno.ontology MP:0008886 abnormal PML bodies MP:0008886 alteration in structure, number or location of the subnuclear structures associated with functions including transcription, DNA repair, viral defense, stress, cell cycle regulation, proteolysis and apoptosis MGI:llw2 https://npd.hgu.mrc.ac.uk/compartments.html alteration in structure, number or location of subnuclear structures comprising storage locations for elements responsible for excising non-coding regions from a primary messenger RNA transcript and joining coding regions to produce mature messenger RNA abnormal splicing speckle morphology MPheno.ontology MP:0008887 Same as nuclear speck (GO0016607)? abnormal splicing factor domain morphology MP:0008887 alteration in structure, number or location of subnuclear structures comprising storage locations for elements responsible for excising non-coding regions from a primary messenger RNA transcript and joining coding regions to produce mature messenger RNA MGI:llw2 https://npd.hgu.mrc.ac.uk/compartments.html alteration in structure, number or location of subnuclear structures involved in snRNP biogenesis and in the trafficking of snoRNPs and snRNPs abnormal coiled body morphology MPheno.ontology MP:0008888 abnormal Cajal body morphology MP:0008888 alteration in structure, number or location of subnuclear structures involved in snRNP biogenesis and in the trafficking of snoRNPs and snRNPs MGI:llw2 https://npd.hgu.mrc.ac.uk/compartments.html alteration in structure, number or location of subnuclear structures involved in snRNP biogenesis and in the trafficking of snoRNPs and snRNPs and found paired with or juxtaposed to Cajal bodies abnormal SMN gem morphology MPheno.ontology MP:0008889 abnormal Gem morphology MP:0008889 alteration in structure, number or location of subnuclear structures involved in snRNP biogenesis and in the trafficking of snoRNPs and snRNPs and found paired with or juxtaposed to Cajal bodies MGI:llw2 https://npd.hgu.mrc.ac.uk/compartments.html any structural anomaly of the inner nuclear membrane surrounding the nuclear periphery, comprising a scaffold-like network of protein filaments responsible for trafficking of mRNA to the cytoplasm MPheno.ontology MP:0008890 abnormal nuclear lamina morphology MP:0008890 any structural anomaly of the inner nuclear membrane surrounding the nuclear periphery, comprising a scaffold-like network of protein filaments responsible for trafficking of mRNA to the cytoplasm MGI:llw2 https://npd.hgu.mrc.ac.uk/compartments.html reduction in the number of hepatocytes undergoing programmed cell death reduced hepatocyte apoptosis MPheno.ontology MP:0008891 decreased hepatocyte apoptosis MP:0008891 reduction in the number of hepatocytes undergoing programmed cell death MGI:rbabiuk any structural anomaly of the whiplike posterior filiform portion of the spermatozoon composed of a number of cytoskeletal elements whose proper assembly is critical for sperm motility; the mammalian flagellum is structurally divided into four major parts: the connecting piece, the midpiece, the principal piece, and the end piece abnormal sperm flagella abnormal sperm tail MPheno.ontology MP:0008892 abnormal sperm flagellum morphology MP:0008892 any structural anomaly of the whiplike posterior filiform portion of the spermatozoon composed of a number of cytoskeletal elements whose proper assembly is critical for sperm motility; the mammalian flagellum is structurally divided into four major parts: the connecting piece, the midpiece, the principal piece, and the end piece MESH:A05.360.490.890.840 PMID:14581499 abnormal sperm tail MESH:A05.360.490.890.840 fragmentation of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility from the sperm head detached sperm flagella detached sperm tail MPheno.ontology MP:0008893 detached sperm flagellum MP:0008893 fragmentation of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility from the sperm head MESH:A05.360.490.890.840 https://orcid.org/0000-0003-3691-0324 any structural anomaly of a T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements abnormal IEL morphology abnormal intraepithelial T lymphocyte morphology abnormal intraepithelial T-cell morphology abnormal intraepithelial T-lymphocyte morphology abnormal intraepithelial lymphocyte morphology MPheno.ontology MP:0008894 abnormal intraepithelial T cell morphology MP:0008894 any structural anomaly of a T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements ISBN:0781735149 reduced number of T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements abnormal IEL number abnormal intraepithelial T-cell number abnormal intraepithelial T-lymphocyte number abnormal intraepithelial lymphocyte number MPheno.ontology abnormal intraepithelial T lymphocyte number MP:0008895 abnormal intraepithelial T cell number MP:0008895 reduced number of T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements ISBN:0781735149 greater than normal immunoglobulin class G2c level increased serum level of immunoglobulin G2c MPheno.ontology MP:0008896 increased IgG2c level MP:0008896 greater than normal immunoglobulin class G2c level https://orcid.org/0000-0003-3691-0324 less than normal immunoglobulin class G2c level decreased serum level of immunoglobulin G2c reduced IgG2c level MPheno.ontology MP:0008897 decreased IgG2c level MP:0008897 less than normal immunoglobulin class G2c level https://orcid.org/0000-0003-3691-0324 any structural anomaly of the cap-like structure at the anterior end of the sperm head that produces enzymes needed for egg penetration abnormal acrosomal granule morphology abnormal acrosomal vesicle morphology acrosome dysplasia MPheno.ontology MP:0008898 abnormal acrosome morphology MP:0008898 any structural anomaly of the cap-like structure at the anterior end of the sperm head that produces enzymes needed for egg penetration MESH:A05.360.490.890.820.100 coat has a thick, velvet-like appearance MPheno.ontology MP:0008899 plush coat MP:0008899 coat has a thick, velvet-like appearance MGI:brs any structural anomaly of the encapsulated adipose tissue associated with the uterus abnormal periuterine fat pad morphology abnormal uterine fat depot morphology uterine fat pad dysplasia MPheno.ontology MP:0008900 abnormal uterine fat pad morphology MP:0008900 any structural anomaly of the encapsulated adipose tissue associated with the uterus https://orcid.org/0000-0003-3691-0324 absence of the encapsulated adipose tissue associated with the epididymis absent periepididymal fat pad MPheno.ontology MP:0008901 absent epididymal fat pad MP:0008901 absence of the encapsulated adipose tissue associated with the epididymis MGI:rbabiuk https://orcid.org/0000-0003-4606-0597 any structural anomaly of the encapsulated adipose tissue associated with the kidney abnormal adipose capsule of kidney morphology abnormal perirenal fat capsule morphology abnormal perirenal fat morphology abnormal perirenal fat pad morphology renal fat pad dysplasia MPheno.ontology abnormal fatty capsule of kidney morphology abnormal renal fat depot morphology MP:0008902 abnormal renal fat pad morphology MP:0008902 any structural anomaly of the encapsulated adipose tissue associated with the kidney https://orcid.org/0000-0003-3691-0324 any structural anomaly of the encapsulated adipose tissue associated with the mesentery abnormal mesenteric fat depot morphology mesenteric fat pad dysplasia MPheno.ontology MP:0008903 abnormal mesenteric fat pad morphology MP:0008903 any structural anomaly of the encapsulated adipose tissue associated with the mesentery https://orcid.org/0000-0003-3691-0324 any structural anomaly of the encapsulated adipose tissue associated with the mammary gland mammary fat pad dysplasia MPheno.ontology abnormal mammary fat depot morphology MP:0008904 abnormal mammary fat pad morphology MP:0008904 any structural anomaly of the encapsulated adipose tissue associated with the mammary gland https://orcid.org/0000-0003-3691-0324 any structural anomaly of the encapsulated adipose tissue associated with the femur abnormal femoral fat depot morphology femoral fat pad dysplasia MPheno.ontology MP:0008905 abnormal femoral fat pad morphology MP:0008905 any structural anomaly of the encapsulated adipose tissue associated with the femur https://orcid.org/0000-0003-3691-0324 any structural anomaly of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament abnormal parametrial fat depot morphology parametrial fat pad dysplasia MPheno.ontology MP:0008906 abnormal parametrial fat pad morphology MP:0008906 any structural anomaly of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament ISBN:978-0-7020-2972-1 less than average weight of the fat pads decreased total fat body weight MPheno.ontology MP:0008907 decreased total fat pad weight MP:0008907 less than average weight of the fat pads https://orcid.org/0000-0003-3691-0324 greater than average weight of the fat pads increased total fat body weight MPheno.ontology MP:0008908 increased total fat pad weight MP:0008908 greater than average weight of the fat pads https://orcid.org/0000-0003-3691-0324 rotation of the pedal or prehensile extremity so the forefoot (hand) faces anteriorly to the anatomic position; rotation of the hindfoot (foot) such that the plantar surface turns upward MPheno.ontology MP:0008909 supination MP:0008909 rotation of the pedal or prehensile extremity so the forefoot (hand) faces anteriorly to the anatomic position; rotation of the hindfoot (foot) such that the plantar surface turns upward MGI:llw2 thinner than normal rounded end of a long bone MPheno.ontology MP:0008910 thin long bone epiphysis MP:0008910 thinner than normal rounded end of a long bone MGI:llw2 increased physical activity following stimulation such as handling, touching or noise MPheno.ontology MP:0008911 induced hyperactivity MP:0008911 increased physical activity following stimulation such as handling, touching or noise MGI:llw2 increased, skittish, behavior induced by stimulation such as handling, touching or noise easily agitated skittish MPheno.ontology MP:0008912 nervous MP:0008912 increased, skittish, behavior induced by stimulation such as handling, touching or noise MGI:llw2 momentary, slow motions of the whole body from side to side sometimes followed by a sudden drop from an erect position listing swaying MPheno.ontology MP:0008913 weaving MP:0008913 momentary, slow motions of the whole body from side to side sometimes followed by a sudden drop from an erect position MGI:llw2 increased size of the cerebellum increased cerebellum size MPheno.ontology MP:0008914 enlarged cerebellum MP:0008914 increased size of the cerebellum https://orcid.org/0000-0003-3691-0324 anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands resulting in some or all the bones being joined together carpal bone fusion MPheno.ontology MP:0008915 fused carpal bones MP:0008915 anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands resulting in some or all the bones being joined together ISBN:0-683-40008-8 any functional anomaly of one of the large neuroglia cells of nervous tissue abnormal astroglia physiology abnormal astroglial cell physiology MPheno.ontology MP:0008916 abnormal astrocyte physiology MP:0008916 any functional anomaly of one of the large neuroglia cells of nervous tissue ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any functional anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS abnormal oligodendroglia physiology abnormal oligodendroglial cell physiology abnormal oligoglial cell physiology MPheno.ontology abnormal oligoglia physiology MP:0008917 abnormal oligodendrocyte physiology MP:0008917 any functional anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS MESH:A08.637.600 a proliferation or spread of microglia in the area of a degenerative lesion or damaged tissue MPheno.ontology MP:0008918 microgliosis MP:0008918 a proliferation or spread of microglia in the area of a degenerative lesion or damaged tissue https://orcid.org/0000-0003-3691-0324 anomaly of the eight bones of the instep of the paw/foot resulting in some or all the bones being joined together fused tarsus bones fusion of tarsal bones tarsal bone fusion MPheno.ontology MP:0008919 fused tarsal bones MP:0008919 anomaly of the eight bones of the instep of the paw/foot resulting in some or all the bones being joined together ISBN:0-683-40008-8 absence of the second cervical vertebra (C2) which forms the pivot upon which the first cervical (atlas, C1) vertebra rotates absent C2 vertebra absent epistropheus MPheno.ontology MP:0008920 absent cervical axis MP:0008920 absence of the second cervical vertebra (C2) which forms the pivot upon which the first cervical (atlas, C1) vertebra rotates ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 increased production or release of endogenous signaling molecules normally secreted by neurons that alter the behavior of neurons or effector cells MPheno.ontology MP:0008921 increased neurotransmitter release MP:0008921 increased production or release of endogenous signaling molecules normally secreted by neurons that alter the behavior of neurons or effector cells https://orcid.org/0000-0003-3691-0324 alternate location or appearance of a rare supernumerary rib commonly articulating with the seventh cervical vertebrae (above the normal first rib) but not reaching the sternum anteriorly MPheno.ontology MP:0008922 abnormal cervical rib MP:0008922 alternate location or appearance of a rare supernumerary rib commonly articulating with the seventh cervical vertebrae (above the normal first rib) but not reaching the sternum anteriorly MGI:llw2 congenital fissure of the chest wall MPheno.ontology MP:0008923 thoracoschisis MP:0008923 congenital fissure of the chest wall MGI:llw2 reduction in the number of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites decreased granule cell number decreased granule neuron number reduced granule neuron number CL:0001031 MPheno.ontology MP:0008924 decreased cerebellar granule cell number MP:0008924 reduction in the number of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites ISBN:0838580343 greater number of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites increased granule cell number increased granule neuron number CL:0001031 MPheno.ontology MP:0008925 increased cerebellar granule cell number MP:0008925 greater number of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites ISBN:0838580343 any structural anomaly of the mesendoderm which first migrates from the node and evolves into the foregut, from which pancreas, liver and lungs will eventually emerge abnormal ADE MPheno.ontology MP:0008926 abnormal anterior definitive endoderm morphology MP:0008926 any structural anomaly of the mesendoderm which first migrates from the node and evolves into the foregut, from which pancreas, liver and lungs will eventually emerge ISBN:9780080555959 PMID:12464432 any structural anomaly in the thalmic nucleus that send excitatory projections onto striatal medium spiny neurons and cholinergic interneurons abnormal PFN morphology parafascicular nucleus dysplasia MPheno.ontology MP:0008927 abnormal parafascicular nucleus morphology MP:0008927 any structural anomaly in the thalmic nucleus that send excitatory projections onto striatal medium spiny neurons and cholinergic interneurons PMID:20980596 any structural anomaly of one of the intralaminar nuclei of the thalamus, located medial to the central lateral nucleus paracentral nucleus dysplasia MPheno.ontology MP:0008928 abnormal paracentral nucleus morphology MP:0008928 any structural anomaly of one of the intralaminar nuclei of the thalamus, located medial to the central lateral nucleus ISBN:0-683-40008-8 any structural anomaly of a small cell group in the interthalamic adhesion of the thalamus that occupy the midline region of the internal medullary lamina, between the left and right paracentral nuclei abnormal medial central nucleus of thalamus abnormal centromedian nucleus morphology central medial nucleus dysplasia MPheno.ontology MP:0008929 abnormal central medial nucleus morphology MP:0008929 any structural anomaly of a small cell group in the interthalamic adhesion of the thalamus that occupy the midline region of the internal medullary lamina, between the left and right paracentral nuclei ISBN:0-683-40008-8 any structural anomaly of groups of nerve cells that function as a relay of auditory input to auditory cortex, receiving the brachium of the inferior colliculus and sending processed information to the auditory cortex in the superior temporal gyrus abnormal nucleus of medial geniculate body medial geniculate nucleus dysplasia MPheno.ontology abnormal MGN MP:0008930 abnormal medial geniculate nucleus morphology MP:0008930 any structural anomaly of groups of nerve cells that function as a relay of auditory input to auditory cortex, receiving the brachium of the inferior colliculus and sending processed information to the auditory cortex in the superior temporal gyrus ISBN:0-683-40008-8 any structural anomaly in the nucleus in the thalamus that consists primarily of excitatory neurons, extends over the entire rostro-caudal length of the midline thalamus, and regulates arousal, emotional, and motivated behaviors paraventricular thalamic nucleus dysplasia MPheno.ontology MP:0008931 abnormal paraventricular thalamic nucleus morphology MP:0008931 any structural anomaly in the nucleus in the thalamus that consists primarily of excitatory neurons, extends over the entire rostro-caudal length of the midline thalamus, and regulates arousal, emotional, and motivated behaviors PMID:33775435 any functional anomaly in any of the tissues of the embryo proper MPheno.ontology MP:0008932 abnormal embryonic tissue physiology MP:0008932 any functional anomaly in any of the tissues of the embryo proper https://orcid.org/0000-0003-4606-0597 any functional anomaly of the cilia of the mouse embryo found on the cells of the embryonic node, which generate flow of extraembryonic fluid surrounding the node in a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization abnormal embryonic cilium physiology abnormal embryonic cilia physiology abnormal embryonic ciliary physiology abnormal motile primary cilia physiology abnormal nodal cilium physiology MPheno.ontology MP:0008933 abnormal motile primary cilium physiology MP:0008933 any functional anomaly of the cilia of the mouse embryo found on the cells of the embryonic node, which generate flow of extraembryonic fluid surrounding the node in a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization GO:0031512 https://orcid.org/0000-0002-6490-7723 absence of the infoldings of blood vessels of the pia mater covered by a thin coat of ependymal cells that form tufted projections into the third, fourth, and lateral ventricles of the brain MPheno.ontology MP:0008934 absent choroid plexus MP:0008934 absence of the infoldings of blood vessels of the pia mater covered by a thin coat of ependymal cells that form tufted projections into the third, fourth, and lateral ventricles of the brain ISBN:0-683-40008-8 http://medical-dictionary.thefreedictionary.com/plexus https://orcid.org/0000-0002-6490-7723 reduced average content of platelet cells over normal decreased platelet size reduced platelet size small platelet size small platelets decreased MPV reduced MPV reduced mean platelet volume MPheno.ontology MP:0008935 decreased mean platelet volume MP:0008935 reduced average content of platelet cells over normal MGI:mberry small platelet size HP:0005537 small platelets HP:0005537 anomaly in the average size of the compound gland suspended from the base of the hypothalamus MPheno.ontology MP:0008936 abnormal pituitary gland size MP:0008936 anomaly in the average size of the compound gland suspended from the base of the hypothalamus https://orcid.org/0000-0002-6490-7723 anomaly in the average weight of the compound gland suspended from the base of the hypothalamus abnormal pituitary weight MPheno.ontology MP:0008937 abnormal pituitary gland weight MP:0008937 anomaly in the average weight of the compound gland suspended from the base of the hypothalamus https://orcid.org/0000-0002-6490-7723 reduction in the average weight of the compound gland suspended from the base of the hypothalamus reduced pituitary gland weight reduced pituitary weight MPheno.ontology MP:0008938 decreased pituitary gland weight MP:0008938 reduction in the average weight of the compound gland suspended from the base of the hypothalamus https://orcid.org/0000-0002-6490-7723 greater than average weight of the compound gland suspended from the base of the hypothalamus increased pituitary weight MPheno.ontology MP:0008939 increased pituitary gland weight MP:0008939 greater than average weight of the compound gland suspended from the base of the hypothalamus https://orcid.org/0000-0002-6490-7723 the separation of the prepuce from the glans penis (balanus), a result of the cornification of the balano-preputial epithelium, occurs at a later than expected age delayed balano-preputial separation delayed preputial separation late onset of balano-preputial separation late onset of balanopreputial separation late onset of preputial separation MPheno.ontology MP:0008940 Balanopreputial separation is used as an index for the onset of male puberty and is androgen-sensitive in the rat delayed balanopreputial separation MP:0008940 the separation of the prepuce from the glans penis (balanus), a result of the cornification of the balano-preputial epithelium, occurs at a later than expected age PMID:889997 Balanopreputial separation is used as an index for the onset of male puberty and is androgen-sensitive in the rat PMID:889997 https://orcid.org/0000-0002-6490-7723 decrease in the normal number of circulating reticulocytes decreased immature erythrocyte number decreased reticulocyte number reduced immature erythrocyte number reduced reticulocyte number MPheno.ontology aplastic crisis MP:0008941 reticulocytopenia MP:0008941 decrease in the normal number of circulating reticulocytes MGI:rbabiuk anomaly in the response to an agent that induces cessation of function at the cellular level MPheno.ontology MP:0008942 abnormal induced cell death MP:0008942 anomaly in the response to an agent that induces cessation of function at the cellular level https://orcid.org/0000-0003-4606-0597 decrease in the exposure level to an agent that is required to induce cessation of function at the cellular level decreased resistance to induced cell death increased susceptibility to induced cell death MPheno.ontology MP:0008943 increased sensitivity to induced cell death MP:0008943 decrease in the exposure level to an agent that is required to induce cessation of function at the cellular level https://orcid.org/0000-0003-4606-0597 increase in the exposure level to an agent that is required to induce cessation of function at the cellular level decreased susceptibility to induced cell death increased resistance to induced cell death reduced sensitivity to induced cell death MPheno.ontology MP:0008944 decreased sensitivity to induced cell death MP:0008944 increase in the exposure level to an agent that is required to induce cessation of function at the cellular level https://orcid.org/0000-0003-4606-0597 deficiency of red blood cells in which the remaining circulating erythrocyte corpuscular volume is larger than normal and the total amount of hemoglobin per cell is increased, but the percentage of hemoglobin per cell is usually in the normochromic range hyperchromic macrocytic anaemia MPheno.ontology MP:0008945 hyperchromic macrocytic anemia MP:0008945 deficiency of red blood cells in which the remaining circulating erythrocyte corpuscular volume is larger than normal and the total amount of hemoglobin per cell is increased, but the percentage of hemoglobin per cell is usually in the normochromic range MGI:rbabiuk anomaly in the number of the cells of the nervous system that receive, conduct, and transmit impulses MPheno.ontology MP:0008946 abnormal neuron number MP:0008946 anomaly in the number of the cells of the nervous system that receive, conduct, and transmit impulses MESH:A08.663 greater than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses MPheno.ontology MP:0008947 increased neuron number MP:0008947 greater than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses MESH:A08.663 fewer than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses reduced neuron number MPheno.ontology MP:0008948 decreased neuron number MP:0008948 fewer than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses MESH:A08.663 greater number of the distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus MPheno.ontology MP:0008949 increased Cajal-Retzius cell number MP:0008949 greater number of the distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus https://orcid.org/0009-0005-7755-8314 paroxysmal rapid beating of the heart originating in an ectopic focus in the heart ventricle Fyler:7160 V tach ventricular tachyrhythmia wide-complex tachycardia MPheno.ontology ventricular polycardia ventricular tachysystole MP:0008950 ventricular tachycardia MP:0008950 paroxysmal rapid beating of the heart originating in an ectopic focus in the heart ventricle ISBN:0-683-40008-8 increased length of the short bone of the lateral forearm increased radius length MPheno.ontology MP:0008951 long radius MP:0008951 increased length of the short bone of the lateral forearm ISBN:0-683-40008-8 any functional anomaly of the cells found in the pancreas that secrete somatostatin abnormal D cell physiology abnormal pancreatic D cell physiology abnormal somatostatin-secreting cell physiology MPheno.ontology MP:0008952 abnormal pancreatic delta cell physiology MP:0008952 any functional anomaly of the cells found in the pancreas that secrete somatostatin MESH:A03.556.875.875.440.854 anomaly in the production or release from pancreatic delta cells of a 14 amino acid peptide that inhibits growth hormone release and is found in the central and peripheral nervous systems, the gut, and other organs MPheno.ontology MP:0008953 Somatostatin is secreted by multiple cell types in the digestive and nervous systems. abnormal pancreatic somatostatin secretion MP:0008953 anomaly in the production or release from pancreatic delta cells of a 14 amino acid peptide that inhibits growth hormone release and is found in the central and peripheral nervous systems, the gut, and other organs MESH:D06.472.699.327.700.875 anomaly in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume abnormal CH abnormal cellular haemoglobin content abnormal corpuscular haemoglobin content abnormal corpuscular hemoglobin content MPheno.ontology MP:0008954 CH is reported in picograms (pg). abnormal cellular hemoglobin content MP:0008954 anomaly in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume MGI:brs increase in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume increased CH increased cellular haemoglobin content increased corpuscular haemoglobin content increased corpuscular hemoglobin content MPheno.ontology MP:0008955 CH is reported in picograms (pg). increased cellular hemoglobin content MP:0008955 increase in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume MGI:brs decrease in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume decreased CH decreased cellular haemoglobin content decreased corpuscular haemoglobin content decreased corpuscular hemoglobin content reduced CH reduced corpuscular haemoglobin content reduced corpuscular hemoglobin content MPheno.ontology MP:0008956 CH is reported in picograms (pg). decreased cellular hemoglobin content MP:0008956 decrease in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume MGI:brs any structural anomaly of the fetally derived placental region that separates the maternal uterine tissue from the placenta labyrinth abnormal placental junctional zone morphology placenta junctional zone dysplasia MPheno.ontology MP:0008957 abnormal placenta junctional zone morphology MP:0008957 any structural anomaly of the fetally derived placental region that separates the maternal uterine tissue from the placenta labyrinth PMID:16367805 any structural anomaly of a glycogen-accumulating trophoblast cell that arises in the junctional zone of the placenta abnormal GC morphology abnormal glycogen cell morphology MPheno.ontology MP:0008958 abnormal trophoblast glycogen cell morphology MP:0008958 any structural anomaly of a glycogen-accumulating trophoblast cell that arises in the junctional zone of the placenta PMID:17039549 any structural anomaly of a trophoblast cell that arises in the junctional zone of the placenta MPheno.ontology MP:0008959 abnormal spongiotrophoblast cell morphology MP:0008959 any structural anomaly of a trophoblast cell that arises in the junctional zone of the placenta https://orcid.org/0000-0003-3691-0324 defects in the developmental elimination of axons that fail to participate in an active neuronal circuit by retraction, degeneration, shedding or other mechanism MPheno.ontology MP:0008960 abnormal axon pruning MP:0008960 defects in the developmental elimination of axons that fail to participate in an active neuronal circuit by retraction, degeneration, shedding or other mechanism https://orcid.org/0000-0003-1980-3228 any anomaly in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state abnormal heat production MPheno.ontology abnormal basal metabolic rate MP:0008961 abnormal basal metabolism MP:0008961 any anomaly in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state MESH:E01.370.374.750.100 deviation from the normal rate at which carbon dioxide leaves the blood and enters the alveolar gas abnormal carbon dioxide emission MPheno.ontology MP:0008962 abnormal carbon dioxide production MP:0008962 deviation from the normal rate at which carbon dioxide leaves the blood and enters the alveolar gas https://orcid.org/0000-0003-3691-0324 increase in the rate at which carbon dioxide leaves the blood and enters the alveolar gas increased carbon dioxide emission MPheno.ontology MP:0008963 increased carbon dioxide production MP:0008963 increase in the rate at which carbon dioxide leaves the blood and enters the alveolar gas https://orcid.org/0000-0003-3691-0324 reduction in the rate at which carbon dioxide leaves the blood and enters the alveolar gas decreased carbon dioxide emission reduced carbon dioxide emission MPheno.ontology reduced carbon dioxide production MP:0008964 decreased carbon dioxide production MP:0008964 reduction in the rate at which carbon dioxide leaves the blood and enters the alveolar gas https://orcid.org/0000-0003-3691-0324 increase in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state increased basal metabolic rate increased heat production MPheno.ontology MP:0008965 increased basal metabolism MP:0008965 increase in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state MESH:E01.370.374.750.100 atypical contact between nonsister chromatids of homologous chromosomes during meiosis I, precluding formation of the expected number of cross-shaped configurations representing recombination events MPheno.ontology MP:0008966 abnormal chiasmata formation MP:0008966 atypical contact between nonsister chromatids of homologous chromosomes during meiosis I, precluding formation of the expected number of cross-shaped configurations representing recombination events MGI:llw2 during meiosis I there are no observable cross-over regions where nonsister chromatids of homologous chromosomes recombine with each other MPheno.ontology MP:0008967 absent chiasmata formation MP:0008967 during meiosis I there are no observable cross-over regions where nonsister chromatids of homologous chromosomes recombine with each other MGI:llw2 any structural anomaly of the network of orbital structures of the eye that secrete and drain tears from the surface of the eyeball into the nasal cavity; these parts include the lacrimal glands, lacrimal lake, lacrimal ducts, lacrimal canals, lacrimal sacs, nasolacrimal ducts, and lacrimal puncta abnormal apparatus lacrimalis morphology abnormal lacrimal system morphology abnormal lacrymal system morphology lacrimal apparatus dysplasia MPheno.ontology MP:0008968 abnormal lacrimal apparatus morphology MP:0008968 any structural anomaly of the network of orbital structures of the eye that secrete and drain tears from the surface of the eyeball into the nasal cavity; these parts include the lacrimal glands, lacrimal lake, lacrimal ducts, lacrimal canals, lacrimal sacs, nasolacrimal ducts, and lacrimal puncta https://orcid.org/0000-0002-6490-7723 any structural anomaly of the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity abnormal nasal duct morphology abnormal naso-lacrimal duct morphology nasolacrimal duct dysplasia MPheno.ontology MP:0008969 abnormal nasolacrimal duct morphology MP:0008969 any structural anomaly of the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity ISBN:0-683-40008-8 blockage of the back of the nasal passage by abnormal bony or soft tissue, usually due to failure of the bucconasal membrane to involute during development Fyler:4203 internal nares atresia MPheno.ontology MP:0008970 choanal atresia MP:0008970 blockage of the back of the nasal passage by abnormal bony or soft tissue, usually due to failure of the bucconasal membrane to involute during development ISBN:0-683-40008-8 any structural anomaly of the conchae of the ethmoid bone which occupy the caudal part of the nasal fossae and form the lateral and superior portions of the turbinate bones in mammals abnormal ethmoturbinals morphology ethmoturbinate dysplasia MPheno.ontology MP:0008971 abnormal ethmoturbinate morphology MP:0008971 any structural anomaly of the conchae of the ethmoid bone which occupy the caudal part of the nasal fossae and form the lateral and superior portions of the turbinate bones in mammals ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 abnormal ethmoturbinals morphology ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the ethmoturbinate, typically resulting in decreased size ethmoturbinal hypoplasia hypoplastic ethmoturbinates MPheno.ontology MP:0008972 ethmoturbinate hypoplasia MP:0008972 decrease in the number of normal cells in normal arrangement in the ethmoturbinate, typically resulting in decreased size ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 reduced numbers of progenitors of the erythrocyte lineage decreased erythroid precursors reduced erythroid precursors MPheno.ontology decreased BFU-E number decreased CFU-E number decreased blast forming unit erythroid number decreased burst forming unit erythroid number decreased colony forming unit erythroid number decreased erythroid stem cell number reduced BFU-E number reduced CFU-E number reduced blast forming unit erythroid number reduced burst forming unit erythroid number reduced colony forming unit erythroid number reduced erythroid stem cell number MP:0008973 decreased erythroid progenitor cell number MP:0008973 reduced numbers of progenitors of the erythrocyte lineage CL:0000038 https://orcid.org/0000-0003-3691-0324 abnormally undersized with both limbs and trunk symmetrically shorter; usually due to chemical, endocrine, nutritional or nonosseous influences ateliotic dwarf proportional dwarfism MPheno.ontology MP:0008974 In humans, dwarfism is defined as a condition in which the standing height of a person is below the third percentile. proportional dwarf MP:0008974 abnormally undersized with both limbs and trunk symmetrically shorter; usually due to chemical, endocrine, nutritional or nonosseous influences ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 ability of a male organism to produce live offspring occurring at a later than expected age MPheno.ontology MP:0008975 delayed male fertility MP:0008975 ability of a male organism to produce live offspring occurring at a later than expected age https://orcid.org/0000-0003-3691-0324 ability of a female organism to produce live offspring occurring at a later than expected age MPheno.ontology MP:0008976 delayed female fertility MP:0008976 ability of a female organism to produce live offspring occurring at a later than expected age https://orcid.org/0000-0003-3691-0324 anomaly in the size of the female reproductive canal located between the uterus and the vulva abnormal vaginal size MPheno.ontology MP:0008977 abnormal vagina size MP:0008977 anomaly in the size of the female reproductive canal located between the uterus and the vulva https://orcid.org/0000-0002-6490-7723 anomaly in the weight of the female reproductive canal located between the uterus and the vulva abnormal vaginal weight MPheno.ontology MP:0008978 abnormal vagina weight MP:0008978 anomaly in the weight of the female reproductive canal located between the uterus and the vulva https://orcid.org/0000-0002-6490-7723 increase in the weight of the female reproductive canal located between the uterus and the vulva increased vaginal weight MPheno.ontology MP:0008979 increased vagina weight MP:0008979 increase in the weight of the female reproductive canal located between the uterus and the vulva https://orcid.org/0000-0002-6490-7723 decrease in the weight of the female reproductive canal located between the uterus and the vulva decreased vaginal weight reduced vagina weight reduced vaginal weight MPheno.ontology MP:0008980 decreased vagina weight MP:0008980 decrease in the weight of the female reproductive canal located between the uterus and the vulva https://orcid.org/0000-0002-6490-7723 increase in the size of the female reproductive canal located between the uterus and the vulva increased vagina size increased vaginal size MPheno.ontology MP:0008981 enlarged vagina MP:0008981 increase in the size of the female reproductive canal located between the uterus and the vulva https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the vagina, typically resulting in increased size hyperplastic vagina vaginal hyperplasia MPheno.ontology MP:0008982 vagina hyperplasia MP:0008982 increase in the number of normal cells in normal arrangement in the vagina, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 decrease in the size of the female reproductive canal located between the uterus and the vulva decreased vagina size decreased vaginal size reduced vagina size reduced vaginal size MPheno.ontology MP:0008983 small vagina MP:0008983 decrease in the size of the female reproductive canal located between the uterus and the vulva https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the vagina, typically resulting in decreased size MP:0003532 hypoplastic vagina rudimentary vagina vaginal hypoplasia MPheno.ontology MP:0008984 vagina hypoplasia MP:0008984 decrease in the number of normal cells in normal arrangement in the vagina, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 congenital absence of part of an extremity, such as absent fibula with the tibia present MPheno.ontology MP:0008985 hemimelia MP:0008985 congenital absence of part of an extremity, such as absent fibula with the tibia present ISBN:0-683-40008-8 any structural anomaly of the functional units of the liver including the lobules abnormal hepatic parenchyma morphology MPheno.ontology MP:0008986 abnormal liver parenchyma morphology MP:0008986 any structural anomaly of the functional units of the liver including the lobules https://orcid.org/0000-0003-3691-0324 any structural anomaly of the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein abnormal classic lobule abnormal classical lobule abnormal hepatic lobule morphology MPheno.ontology MP:0008987 Do not confuse this term with the anatomic lobes of the liver. abnormal liver lobule morphology MP:0008987 any structural anomaly of the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein ISBN:0-683-40008-8 any structural anomaly of the extravascular space in the liver between the parenchymal cells and a sinusoid that contains the blood plasma abnormal hepatic perisinusoidal space morphology abnormal space of Disse morphology MPheno.ontology MP:0008988 abnormal liver perisinusoidal space morphology MP:0008988 any structural anomaly of the extravascular space in the liver between the parenchymal cells and a sinusoid that contains the blood plasma ISBN:0-683-40008-8 any structural anomaly of the hepatic distensible vascular blood channels lined with highly fenestrated endothelial cells that function to exchange fluids, nutrients, proteins and wastes abnormal hepatic sinusoid morphology MPheno.ontology MP:0008989 abnormal liver sinusoid morphology MP:0008989 any structural anomaly of the hepatic distensible vascular blood channels lined with highly fenestrated endothelial cells that function to exchange fluids, nutrients, proteins and wastes ISBN:0-683-40008-8 any structural anomaly of the fat-storing cells that line the hepatic sinusoids abnormal hepatic lipocytes abnormal hepatic stellate cell morphology MPheno.ontology MP:0008990 abnormal Ito cell morphology MP:0008990 any structural anomaly of the fat-storing cells that line the hepatic sinusoids ISBN:0-683-40008-8 any structural anomaly of the intercellular channels that take up bile from hepatocytes and transport it to the bile ducts abnormal bile canaliculi morphology abnormal bile capillary morphology MPheno.ontology MP:0008991 abnormal bile canaliculus morphology MP:0008991 any structural anomaly of the intercellular channels that take up bile from hepatocytes and transport it to the bile ducts ISBN:0-683-40008-8 any structural anomaly of the triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel MPheno.ontology MP:0008992 abnormal portal lobule morphology MP:0008992 any structural anomaly of the triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel ISBN:0-683-40008-8 any structural anomaly of the three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel MPheno.ontology MP:0008993 abnormal portal triad morphology MP:0008993 any structural anomaly of the three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 the opening of the genital canal in a female occurs at an earlier than expected age early onset of vaginal opening precocious vaginal opening MPheno.ontology MP:0008994 early vaginal opening MP:0008994 the opening of the genital canal in a female occurs at an earlier than expected age https://orcid.org/0000-0002-6490-7723 loss of reproductive capacity occurring at an earlier than expected age accelerated reproductive ageing accelerated reproductive aging early onset of reproductive senescence precocious reproductive senescence premature reproductive ageing premature reproductive aging MPheno.ontology MP:0008995 early reproductive senescence MP:0008995 loss of reproductive capacity occurring at an earlier than expected age https://orcid.org/0000-0002-6490-7723 anomaly in the concentration of ions in the blood or blood fractions compared to the normal state, sometimes reported as increased or decreased osmotic fragility abnormal plasma osmolality abnormal serum osmolality MPheno.ontology MP:0008996 abnormal blood osmolality MP:0008996 anomaly in the concentration of ions in the blood or blood fractions compared to the normal state, sometimes reported as increased or decreased osmotic fragility MGI:llw2 increase in the concentration of ions in the blood compared to the normal state increased plasma osmolality increased serum osmolality MPheno.ontology MP:0008997 increased blood osmolality MP:0008997 increase in the concentration of ions in the blood compared to the normal state MGI:hdene decrease in the concentration of ions in the blood compared to the normal state decreased plasma osmolality decreased serum osmolality reduced plasma osmolality reduced serum osmolality MPheno.ontology MP:0008998 decreased blood osmolality MP:0008998 decrease in the concentration of ions in the blood compared to the normal state MGI:hdene absence of the lower opening of the digestive tract absent anal opening absent anal orifice absent opening of terminal part of digestive tract MPheno.ontology MP:0008999 absent anus MP:0008999 absence of the lower opening of the digestive tract ISBN:0-683-40008-8 absence of the large sac at the ileum and large intestine junction absent caecum MPheno.ontology MP:0009000 absent cecum MP:0009000 absence of the large sac at the ileum and large intestine junction ISBN:0-683-40008-8 absence of the first or primary digit of the foot absent big toe absent large toe MPheno.ontology absent great toe MP:0009001 absent hallux MP:0009001 absence of the first or primary digit of the foot ISBN:0-683-40008-8 faster initiation of the hair growth cycle (anagen) after catagen phase MPheno.ontology MP:0009002 premature hair regrowth MP:0009002 faster initiation of the hair growth cycle (anagen) after catagen phase https://orcid.org/0000-0003-4606-0597 any anomaly in the number of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors abnormal contour hair number abnormal sinus hair number abnormal touch hair number abnormal vibrissae number abnormal whisker number MPheno.ontology MP:0009003 abnormal vibrissa number MP:0009003 any anomaly in the number of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors MESH:A13.950 https://orcid.org/0000-0003-4606-0597 thinning of hair (coat) over time, usually in a defined pattern, until entirely gone with no recurrent growth MPheno.ontology MP:0009004 progressive hair loss MP:0009004 thinning of hair (coat) over time, usually in a defined pattern, until entirely gone with no recurrent growth MGI:llw2 any structural anomaly of the small sesamoid bones situated behind the condyles of the femur abnormal fabella morphology medial sesamoid bone of the knee MPheno.ontology MP:0009005 abnormal sesamoid bone of gastrocnemius morphology MP:0009005 any structural anomaly of the small sesamoid bones situated behind the condyles of the femur https://orcid.org/0000-0003-4606-0597 increase in the length of the estrous cycle prolonged estrus cycle prolonged oestrous cycle MPheno.ontology increased estrous cycle duration MP:0009006 prolonged estrous cycle MP:0009006 increase in the length of the estrous cycle https://orcid.org/0000-0002-6490-7723 decrease in the length of the estrous cycle decreased estrous cycle duration short estrus cycle short oestrous cycle MPheno.ontology MP:0009007 short estrous cycle MP:0009007 decrease in the length of the estrous cycle https://orcid.org/0000-0002-6490-7723 onset of the estrous cycle of females occurring at a later than expected age delayed estrus cycle delayed oestrous cycle delayed onset of estrous cycling MPheno.ontology MP:0009008 This term should only be used to annotate a delay in the onset of the first estrous cycle in female animals. delayed estrous cycle MP:0009008 onset of the estrous cycle of females occurring at a later than expected age https://orcid.org/0000-0002-6490-7723 failure of female animals to enter or progress through the estrous cycle absence of estrous cycle absence of estrous cycling absent estrus cycle absent oestrous cycle acyclic females estrous acyclicity failure of estrous cyclicity MPheno.ontology anestrus MP:0009009 absent estrous cycle MP:0009009 failure of female animals to enter or progress through the estrous cycle https://orcid.org/0000-0002-6490-7723 any anomaly or aberrant timing of the last phase of the estrous cycle, during which unfertilized eggs are eliminated, the vagina and vulva are at a minimum size, and new follicles begin to undergo a rapid growth for the next ovulation; if pregnancy does not occur, the metestrous phase is ultimately followed by the diestrous phase abnormal diestrous abnormal diestrous phase abnormal dioestrous MPheno.ontology MP:0009010 abnormal diestrus MP:0009010 any anomaly or aberrant timing of the last phase of the estrous cycle, during which unfertilized eggs are eliminated, the vagina and vulva are at a minimum size, and new follicles begin to undergo a rapid growth for the next ovulation; if pregnancy does not occur, the metestrous phase is ultimately followed by the diestrous phase https://orcid.org/0000-0002-6490-7723 increase in the length of the diestrous phase of the estrous cycle in female animals extended diestrous increased diestrous phase duration prolonged diestrous prolonged dioestrous MPheno.ontology MP:0009011 prolonged diestrus MP:0009011 increase in the length of the diestrous phase of the estrous cycle in female animals https://orcid.org/0000-0002-6490-7723 decrease in the length of the diestrous phase of the estrous cycle in female animals decreased diestrous phase duration short diestrous short dioestrous MPheno.ontology MP:0009012 short diestrus MP:0009012 decrease in the length of the diestrous phase of the estrous cycle in female animals https://orcid.org/0000-0002-6490-7723 any anomaly or aberrant timing of the first phase of the estrous cycle which begins when a new batch of eggs reach maturity within ovarian follicles that are ripe and large; external examination of the female usually shows a bloated vulva with an open vagina abnormal proestrous abnormal proestrous phase abnormal prooestrous MPheno.ontology MP:0009013 abnormal proestrus MP:0009013 any anomaly or aberrant timing of the first phase of the estrous cycle which begins when a new batch of eggs reach maturity within ovarian follicles that are ripe and large; external examination of the female usually shows a bloated vulva with an open vagina https://orcid.org/0000-0002-6490-7723 increase in the length of the proestrous phase of the estrous cycle in female animals extended proestrous increased proestrous phase duration prolonged proestrous prolonged prooestrous MPheno.ontology MP:0009014 prolonged proestrus MP:0009014 increase in the length of the proestrous phase of the estrous cycle in female animals https://orcid.org/0000-0002-6490-7723 decrease in the length of the proestrous phase of the estrous cycle in female animals decreased proestrous phase duration short proestrous short prooestrous MPheno.ontology MP:0009015 short proestrus MP:0009015 decrease in the length of the proestrous phase of the estrous cycle in female animals https://orcid.org/0000-0002-6490-7723 any anomaly or aberrant timing of the phase of the estrous cycle which begins with the ovulation of fully mature oocytes and during which the vulva remains in an extended state with an open vagina, and females are maximally receptive to male advances abnormal estrous abnormal estrous phase abnormal oestrous MPheno.ontology MP:0009016 abnormal estrus MP:0009016 any anomaly or aberrant timing of the phase of the estrous cycle which begins with the ovulation of fully mature oocytes and during which the vulva remains in an extended state with an open vagina, and females are maximally receptive to male advances https://orcid.org/0000-0002-6490-7723 increase in the length of the estrous phase of the estrous cycle in female animals extended estrous increased estrous phase duration prolonged estrous prolonged oestrous MPheno.ontology MP:0009017 prolonged estrus MP:0009017 increase in the length of the estrous phase of the estrous cycle in female animals https://orcid.org/0000-0002-6490-7723 decrease in the length of the estrous phase of the estrous cycle in female animals decreased estrous phase duration short estrous short oestrous MPheno.ontology MP:0009018 short estrus MP:0009018 decrease in the length of the estrous phase of the estrous cycle in female animals https://orcid.org/0000-0002-6490-7723 any anomaly or aberrant timing of the phase of the estrous cycle which follows estrus when mature eggs move through the oviducts and into the uterus; the vulva is no longer bloated, and the vagina is now closed abnormal metestrous abnormal metestrous phase abnormal metoestrous MPheno.ontology MP:0009019 abnormal metestrus MP:0009019 any anomaly or aberrant timing of the phase of the estrous cycle which follows estrus when mature eggs move through the oviducts and into the uterus; the vulva is no longer bloated, and the vagina is now closed https://orcid.org/0000-0002-6490-7723 increase in the length of the metestrous phase of the estrous cycle in female animals extended metestrous increased metestrous phase duration prolonged metestrous prolonged metoestrous MPheno.ontology MP:0009020 prolonged metestrus MP:0009020 increase in the length of the metestrous phase of the estrous cycle in female animals https://orcid.org/0000-0002-6490-7723 absence or failure of the estrous phase of the estrous cycle in female animals absence of estrous phase absent estrous absent oestrous MPheno.ontology MP:0009021 absent estrus MP:0009021 absence or failure of the estrous phase of the estrous cycle in female animals https://orcid.org/0000-0002-6490-7723 any structural anomaly in any of the membranes covering the brain, including the dura mater (external), arachnoid (middle), and pia mater (internal) MPheno.ontology MP:0009022 abnormal brain meninges morphology MP:0009022 any structural anomaly in any of the membranes covering the brain, including the dura mater (external), arachnoid (middle), and pia mater (internal) ISBN:0-683-40008-8 any structural anomaly in any of the membranes covering the spinal cord, including the dura mater (external), arachnoid (middle), and pia mater (internal) MPheno.ontology MP:0009023 abnormal spinal cord meninges morphology MP:0009023 any structural anomaly in any of the membranes covering the spinal cord, including the dura mater (external), arachnoid (middle), and pia mater (internal) ISBN:0-683-40008-8 any structural anomaly of the fibrous membrane forming the middle of the three coverings that surrounds the brain within the cranial cavity abnormal arachnoidea mater cranialis morphology abnormal cranial arachnoid mater MPheno.ontology MP:0009024 abnormal brain arachnoid mater morphology MP:0009024 any structural anomaly of the fibrous membrane forming the middle of the three coverings that surrounds the brain within the cranial cavity ISBN:0-683-40008-8 any structural anomaly of the fibrous membrane forming the outer of the three coverings that surrounds the brain within the cranial cavity; consists of two layers including the periosteal layer and the meningeal layer abnormal cranial dura mater morphology abnormal dura mater cranialis MPheno.ontology MP:0009025 abnormal brain dura mater morphology MP:0009025 any structural anomaly of the fibrous membrane forming the outer of the three coverings that surrounds the brain within the cranial cavity; consists of two layers including the periosteal layer and the meningeal layer ISBN:0-683-40008-8 any structural anomaly of the fibrous membrane forming the innermost of the three coverings that surrounds the brain within the cranial cavity that is firmly attached to the glial capsule MPheno.ontology MP:0009026 abnormal brain pia mater morphology MP:0009026 any structural anomaly of the fibrous membrane forming the innermost of the three coverings that surrounds the brain within the cranial cavity that is firmly attached to the glial capsule ISBN:0-683-40008-8 any structural anomaly of the space between the arachnoid and pia mater that is traversed by fibrous trabeculae and contains cerebrospinal fluid abnormal cavum subarachnoideum morphology abnormal leptomeningeal space morphology abnormal spatium subarachnoideum morphology abnormal subarachnoid cavity morphology MPheno.ontology MP:0009027 abnormal subarachnoid space morphology MP:0009027 any structural anomaly of the space between the arachnoid and pia mater that is traversed by fibrous trabeculae and contains cerebrospinal fluid ISBN:0-683-40008-8 any structural anomaly of the region of the subarachnoid space that is located below and anterior to the optic chiasm abnormal cistern of chiasm morphology abnormal cisterna chiasmatica morphology MPheno.ontology MP:0009028 abnormal chiasmatic cistern morphology MP:0009028 any structural anomaly of the region of the subarachnoid space that is located below and anterior to the optic chiasm ISBN:0-683-40008-8 any structural anomaly of the enclosed space where the arachnoid membrane stretches between the two temporal lobes and encloses the cerebral peduncles including the structures contained in the interpeduncular fossa abnormal Tarin space morphology abnormal Tarin's space morphology abnormal cisterna basalis morphology abnormal cisterna cruralis morphology abnormal cisterna interpeduncularis morphology abnormal interpeduncular cistern morphology MPheno.ontology MP:0009029 abnormal basal cistern morphology MP:0009029 any structural anomaly of the enclosed space where the arachnoid membrane stretches between the two temporal lobes and encloses the cerebral peduncles including the structures contained in the interpeduncular fossa ISBN:0-683-40008-8 any structural anomaly of the space located on lateral aspects of the pons at the junction with the cerebellum abnormal cisterna pontis morphology abnormal cisterna pontocerebellaris morphology abnormal pontocerebellar cistern morphology abnormal prepontine cistern morphology MPheno.ontology MP:0009030 abnormal pontine cistern morphology MP:0009030 any structural anomaly of the space located on lateral aspects of the pons at the junction with the cerebellum ISBN:0-683-40008-8 any structural anomaly of the largest of the subarachnoid spaces between the cerebellum and the medulla oblongata MPheno.ontology MP:0009031 abnormal cerebellomedullary cistern morphology MP:0009031 any structural anomaly of the largest of the subarachnoid spaces between the cerebellum and the medulla oblongata ISBN:0-683-40008-8 any structural anomaly of the widening portions of the subarachnoid space within the cranium where the arachnoid bridges over a depression on the surface of the brain abnormal cisternae subarachnoideae morphology MPheno.ontology MP:0009032 abnormal subarachnoid cistern morphology MP:0009032 any structural anomaly of the widening portions of the subarachnoid space within the cranium where the arachnoid bridges over a depression on the surface of the brain ISBN:0-683-40008-8 any structural anomaly of the space between the cerebellum and the dorsal surface of the medulla abnormal cisterna cerebellomedullaris posterior morphology abnormal cisterna magna morphology MPheno.ontology MP:0009033 abnormal posterior cerebellomedullary cistern MP:0009033 any structural anomaly of the space between the cerebellum and the dorsal surface of the medulla ISBN:0-683-40008-8 any structural anomaly of the space between the cerebellum and the lateral aspect of the medulla abnormal cisterna cerebellomedullaris lateralis morphology MPheno.ontology MP:0009034 abnormal lateral cerebellomedullary cistern morphology MP:0009034 any structural anomaly of the space between the cerebellum and the lateral aspect of the medulla ISBN:0-683-40008-8 any structural anomaly of the enclosed space extending forward between the corpus callosum and the thalamus that contains the internal cerebral veins abnormal Bichat canal morphology abnormal cistern of great cerebral vein morphology abnormal cisterna quadrigeminalis morphology abnormal cisterna venae magnae cerebri morphology abnormal superior cistern morphology MPheno.ontology MP:0009035 abnormal quadrigeminal cistern morphology MP:0009035 any structural anomaly of the enclosed space extending forward between the corpus callosum and the thalamus that contains the internal cerebral veins ISBN:0-683-40008-8 absence of the space between the cerebellum and the dorsal surface of the medulla absent cisterna cerebellomedullaris posterior morphology absent cisterna magna morphology MPheno.ontology MP:0009036 absent posterior cerebellomedullary cistern MP:0009036 absence of the space between the cerebellum and the dorsal surface of the medulla ISBN:0-683-40008-8 anomaly in the formation of the space between the arachnoid and pia mater that is traversed by fibrous trabeculae and contains cerebrospinal fluid abnormal cavum subarachnoideum development abnormal leptomeningeal space development abnormal spatium subarachnoideum development abnormal subarachnoid cavity development MPheno.ontology MP:0009037 abnormal subarachnoid space development MP:0009037 anomaly in the formation of the space between the arachnoid and pia mater that is traversed by fibrous trabeculae and contains cerebrospinal fluid ISBN:0-683-40008-8 decreased size of the paired inferior eminence of the mesencephalic tectum decreased corpora quadrigeminum posterius size decreased inferior nasal colliculus size decreased posterior quadrigeminal body size decreased size of inferior colliculus reduced inferior colliculus size reduced size of inferior colliculus truncated inferior colliculus MPheno.ontology MP:0009038 decreased inferior colliculus size MP:0009038 decreased size of the paired inferior eminence of the mesencephalic tectum https://orcid.org/0000-0002-6490-7723 absence of the paired inferior eminence of the mesencephalic tectum absent corpora quadrigeminum posterius absent inferior nasal colliculus absent posterior quadrigeminal body MPheno.ontology MP:0009039 absent inferior colliculus MP:0009039 absence of the paired inferior eminence of the mesencephalic tectum https://orcid.org/0000-0002-6490-7723 absence of the paired superior eminence of the mesencephalic tectum absent anterior quadrigeminal body absent corpora quadrigeminum posterius anterius MPheno.ontology MP:0009040 absent superior colliculus MP:0009040 absence of the paired superior eminence of the mesencephalic tectum https://orcid.org/0000-0002-6490-7723 absence of the inferior and superior colliculus MPheno.ontology MP:0009041 absent colliculi MP:0009041 absence of the inferior and superior colliculus https://orcid.org/0000-0002-6490-7723 presence of one or more epithelial cysts of the skin arising from the outer root sheath of the hair follicle pilar cysts trichilemmal cyst trichilemmal cysts MPheno.ontology MP:0009042 pilar cyst MP:0009042 presence of one or more epithelial cysts of the skin arising from the outer root sheath of the hair follicle MGI:llw2 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the pancreas, occurring in a specific population in a given time period MPheno.ontology pancreatic adenoma MP:0009043 increased pancreas adenoma incidence MP:0009043 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the pancreas, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the adrenal gland, occurring in a specific population in a given time period MPheno.ontology adrenal adenoma MP:0009044 increased adrenal gland adenoma incidence MP:0009044 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the adrenal gland, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 a condition of mineral imbalance in the body that results in severe muscle spasms occurring when the concentration of calcium ions (Ca++) in extracellular fluids such as plasma falls below normal tetanic cramps MPheno.ontology MP:0009045 muscle tetany MP:0009045 a condition of mineral imbalance in the body that results in severe muscle spasms occurring when the concentration of calcium ions (Ca++) in extracellular fluids such as plasma falls below normal MGI:llw2 minor, sometimes imperceptible, local muscle contractions or uncontrollable movement of a single muscle group served by a single motor nerve fiber or filament sometime, but not always, indicating a neurological disorder muscle twitches MPheno.ontology MP:0009046 muscle twitch MP:0009046 minor, sometimes imperceptible, local muscle contractions or uncontrollable movement of a single muscle group served by a single motor nerve fiber or filament sometime, but not always, indicating a neurological disorder MGI:llw2 decrease in the length of the metestrous phase of the estrous cycle in female animals decreased metestrous phase duration short metestrous short metoestrous shortened metestrous MPheno.ontology MP:0009047 short metestrus MP:0009047 decrease in the length of the metestrous phase of the estrous cycle in female animals https://orcid.org/0000-0002-6490-7723 increased size of the rostral part of the midbrain roof increased tectum size MPheno.ontology MP:0009048 enlarged tectum MP:0009048 increased size of the rostral part of the midbrain roof https://orcid.org/0000-0002-6490-7723 any structural anomaly of the first or primary digit of the foot abnormal digitus primus morphology abnormal big toe morphology abnormal great toe morphology MPheno.ontology abnormal pollex pedis morphology MP:0009049 abnormal hallux morphology MP:0009049 any structural anomaly of the first or primary digit of the foot ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 stretched or widened aperture of the luminal space of one or more of the proximal convoluted kidney tubules dilated proximal convoluted kidney tubules dilated proximal convoluted renal tubules dilated proximal convoluted tubules dilated proximal renal tubules proximal convoluted tubule dilation proximal convoluted tubule ectasia proximal renal tubule dilation MPheno.ontology MP:0009050 dilated proximal convoluted tubule MP:0009050 stretched or widened aperture of the luminal space of one or more of the proximal convoluted kidney tubules https://orcid.org/0000-0003-4606-0597 stretched or widened aperture of the luminal space of one or more of the distal convoluted kidney tubules dilated distal convoluted kidney tubules dilated distal convoluted renal tubules dilated distal convoluted tubules dilated distal renal tubules distal convoluted tubule dilation distal convoluted tubule ectasia distal convoluted tubules dilation MPheno.ontology distal renal tubule dilation MP:0009051 dilated distal convoluted tubule MP:0009051 stretched or widened aperture of the luminal space of one or more of the distal convoluted kidney tubules https://orcid.org/0000-0003-4606-0597 abnormal narrowing or constriction of the anal canal proctostenosis stricture of the anus MPheno.ontology MP:0009052 anal stenosis MP:0009052 abnormal narrowing or constriction of the anal canal https://orcid.org/0000-0002-6490-7723 any structural anomaly in the terminal portion of the alimentary canal, which begins at the anorectal junction, where the rectal ampulla abruptly narrows as the alimentary canal pierces the pelvic diaphragm (levator ani), and ends at the anal verge, when the anoderm that lines the lower anal canal changes to hairy perianal skin; surrounded by the internal and external anal sphincters abnormal canalis analis MPheno.ontology MP:0009053 abnormal anal canal morphology MP:0009053 any structural anomaly in the terminal portion of the alimentary canal, which begins at the anorectal junction, where the rectal ampulla abruptly narrows as the alimentary canal pierces the pelvic diaphragm (levator ani), and ends at the anal verge, when the anoderm that lines the lower anal canal changes to hairy perianal skin; surrounded by the internal and external anal sphincters https://orcid.org/0000-0002-6490-7723 absence of the terminal portion of the alimentary canal agenesis of the anal canal aplasia of the anal canal MPheno.ontology MP:0009054 absent anal canal MP:0009054 absence of the terminal portion of the alimentary canal https://orcid.org/0000-0002-6490-7723 any structural anomaly of the smooth muscle ring, formed by an increase of the circular muscle fibers of the rectum, situated at the upper end of the anal canal, internal to the outer voluntary external anal sphincter abnormal internal sphincter muscle of anus abnormal musculus sphincter ani internus MPheno.ontology MP:0009055 abnormal internal anal sphincter morphology MP:0009055 any structural anomaly of the smooth muscle ring, formed by an increase of the circular muscle fibers of the rectum, situated at the upper end of the anal canal, internal to the outer voluntary external anal sphincter https://orcid.org/0000-0002-6490-7723 anomaly in the production or release of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells abnormal IL-21 secretion abnormal IL21 secretion MPheno.ontology MP:0009056 abnormal interleukin-21 secretion MP:0009056 anomaly in the production or release of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells https://orcid.org/0000-0003-1980-3228 increase in the production or release of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells increased IL-21 secretion increased IL21 secretion MPheno.ontology MP:0009057 increased interleukin-21 secretion MP:0009057 increase in the production or release of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells https://orcid.org/0000-0003-1980-3228 reduction in the production or release of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells decreased IL-21 secretion decreased IL21 secretion reduced IL-21 secretion reduced IL21 secretion reduced interleukin-21 secretion MPheno.ontology MP:0009058 decreased interleukin-21 secretion MP:0009058 reduction in the production or release of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells https://orcid.org/0000-0003-1980-3228 anomaly in the amount in the blood of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells abnormal circulating IL-21 level abnormal circulating IL21 level MPheno.ontology MP:0009059 abnormal circulating interleukin-21 level MP:0009059 anomaly in the amount in the blood of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells https://orcid.org/0000-0003-1980-3228 increase in the amount in the blood of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells increased circulating IL-21 level increased circulating IL21 level MPheno.ontology MP:0009060 increased circulating interleukin-21 level MP:0009060 increase in the amount in the blood of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells https://orcid.org/0000-0003-1980-3228 reduction in the amount in the blood of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells decreased circulating IL-21 level decreased circulating IL21 level reduced circulating IL-21 level reduced circulating IL21 level MPheno.ontology MP:0009061 decreased circulating interleukin-21 level MP:0009061 reduction in the amount in the blood of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells https://orcid.org/0000-0003-1980-3228 abnormal function of the plasma protein cascade triggered by binding of lectin(s) to carbohydrate groups found on pathogen cell surfaces impaired lectin mediated complement pathway impaired lectin pathway of complement MPheno.ontology MP:0009062 impaired lectin complement pathway MP:0009062 abnormal function of the plasma protein cascade triggered by binding of lectin(s) to carbohydrate groups found on pathogen cell surfaces https://orcid.org/0000-0003-1980-3228 anomaly in the average size of the tube through which the ova pass from the ovary to the uterus abnormal fallopian tube size abnormal salpinges size abnormal salpinx size abnormal salpinx uterina size abnormal tuba fallopiana size abnormal tuba fallopii size abnormal tuba uterina size abnormal uterine tube size MPheno.ontology MP:0009063 abnormal oviduct size MP:0009063 anomaly in the average size of the tube through which the ova pass from the ovary to the uterus https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of the oviduct associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes atrophic fallopian tubes atrophic oviduct fallopian tube atrophy salpinges atrophy salpinx atrophy salpinx uterina atrophy tuba fallopiana atrophy tuba fallopii atrophy tuba uterina atrophy uterine tube atrophy MPheno.ontology MP:0009064 oviduct atrophy MP:0009064 acquired diminution of the size of the oviduct associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 anomaly in the average weight of the tube through which the ova pass from the ovary to the uterus abnormal fallopian tube weight abnormal salpinges weight abnormal salpinx uterina weight abnormal salpinx weight abnormal tuba fallopiana weight abnormal tuba fallopii weight abnormal tuba uterina weight abnormal uterine tube weight MPheno.ontology MP:0009065 abnormal oviduct weight MP:0009065 anomaly in the average weight of the tube through which the ova pass from the ovary to the uterus https://orcid.org/0000-0002-6490-7723 reduction in the average weight of the tube through which the ova pass from the ovary to the uterus decreased fallopian tube weight decreased salpinges weight decreased salpinx uterina weight decreased salpinx weight decreased tuba fallopiana weight decreased tuba fallopii weight decreased tuba uterina weight decreased uterine tube weight reduced fallopian tube weight reduced oviduct weight reduced salpinges weight reduced salpinx uterina weight reduced salpinx weight reduced tuba fallopiana weight reduced tuba fallopii weight reduced tuba uterina weight reduced uterine tube weight MPheno.ontology MP:0009066 decreased oviduct weight MP:0009066 reduction in the average weight of the tube through which the ova pass from the ovary to the uterus https://orcid.org/0000-0002-6490-7723 greater average weight of the tube through which the ova pass from the ovary to the uterus increased fallopian tube weight increased salpinges weight increased salpinx uterina weight increased salpinx weight increased tuba fallopiana weight increased tuba fallopii weight increased tuba uterina weight increased uterine tube weight MPheno.ontology MP:0009067 increased oviduct weight MP:0009067 greater average weight of the tube through which the ova pass from the ovary to the uterus https://orcid.org/0000-0002-6490-7723 increased size of the tube through which the ova pass from the ovary to the uterus enlarged fallopian tubes enlarged salpinges enlarged salpinx enlarged salpinx uterina enlarged tuba fallopiana enlarged tuba fallopii enlarged tuba uterina enlarged uterine tube increased oviduct size MPheno.ontology MP:0009068 enlarged oviduct MP:0009068 increased size of the tube through which the ova pass from the ovary to the uterus https://orcid.org/0000-0002-6490-7723 an expansion in the volume or area of one or both tubes through which the ova pass from the ovary to the uterus, usually with an increase in contained fluid dilated fallopian tubes dilated oviducts dilated salpinges dilated salpinx dilated salpinx uterina dilated tuba fallopiana dilated tuba fallopii dilated tuba uterina dilated uterine tube dilated uterine tubes fallopian tube dilation fluid-filled fallopian tube fluid-filled oviduct fluid-filled oviducts fluid-filled salpinges fluid-filled salpinx fluid-filled uterine tube fluid-filled uterine tubes hydrops tubae hydrosalpinges hydrosalpinx oviduct dilation salpinx dilation salpinx uterina dilation uterine tube dilation MPheno.ontology MP:0009069 dilated oviduct MP:0009069 an expansion in the volume or area of one or both tubes through which the ova pass from the ovary to the uterus, usually with an increase in contained fluid https://orcid.org/0000-0002-6490-7723 reduced size of the tube through which the ova pass from the ovary to the uterus decreased oviduct size reduced oviduct size small fallopian tubes small salpinges small salpinx small salpinx uterina small tuba fallopiana small tuba fallopii small tuba uterina small uterine tube MPheno.ontology MP:0009070 small oviduct MP:0009070 reduced size of the tube through which the ova pass from the ovary to the uterus https://orcid.org/0000-0002-6490-7723 length reduction or truncation of the tube through which the ova pass from the ovary to the uterus short fallopian tubes short salpinges short salpinx short salpinx uterina short tuba fallopiana short tuba fallopii short tuba uterina short uterine tube truncated fallopian tubes truncated oviduct truncated salpinges truncated salpinx truncated salpinx uterina truncated tuba fallopiana truncated tuba fallopii truncated tuba uterina truncated uterine tube MPheno.ontology MP:0009071 short oviduct MP:0009071 length reduction or truncation of the tube through which the ova pass from the ovary to the uterus https://orcid.org/0000-0002-6490-7723 absence of the upper third of the female reproductive canal located between the uterus and the vulva, usually due to a developmental arrest or agenesis of the caudal Mullerian ducts absent upper vagina MPheno.ontology MP:0009072 absent cranial vagina MP:0009072 absence of the upper third of the female reproductive canal located between the uterus and the vulva, usually due to a developmental arrest or agenesis of the caudal Mullerian ducts https://orcid.org/0000-0002-6490-7723 absence of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male Wolffian duct agenesis Wolffian duct aplasia absent Gartner's duct absent Leydig's duct absent archinephric duct absent ductus mesonephricus absent mesonephric duct absent nephric duct absent pronephric duct MPheno.ontology MP:0009073 absent Wolffian ducts MP:0009073 absence of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male https://orcid.org/0000-0002-6490-7723 a retrogressive impairment of function or destruction of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male Gartner's duct degeneration Leydig's duct degeneration archinephric duct degeneration ductus mesonephricus degeneration mesonephric duct degeneration nephric duct degeneration pronephric duct degeneration MPheno.ontology MP:0009074 Wolffian duct degeneration MP:0009074 a retrogressive impairment of function or destruction of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male https://orcid.org/0000-0002-6490-7723 not fully developed or remnants of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male rudimentary Gartner's duct rudimentary Leydig's duct rudimentary ductus mesonephricus rudimentary mesonephric duct rudimentary nephric duct rudimentary pronephric duct MPheno.ontology rudimentary archinephric duct MP:0009075 rudimentary Wolffian ducts MP:0009075 not fully developed or remnants of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male https://orcid.org/0000-0002-6490-7723 not fully developed or remnants of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and cranial vagina rudimentary Muller ducts rudimentary paramesonephric ducts MPheno.ontology MP:0009076 rudimentary Mullerian ducts MP:0009076 not fully developed or remnants of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and cranial vagina https://orcid.org/0000-0002-6490-7723 any structural anomaly of the upper third of the female reproductive canal located between the uterus and the vulva, usually due to a developmental arrest or agenesis of the caudal Mullerian ducts abnormal upper vagina morphology MPheno.ontology MP:0009077 abnormal cranial vagina morphology MP:0009077 any structural anomaly of the upper third of the female reproductive canal located between the uterus and the vulva, usually due to a developmental arrest or agenesis of the caudal Mullerian ducts https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the adrenal gland, typically resulting in increased size hyperplastic adrenal gland MPheno.ontology MP:0009078 adrenal gland hyperplasia MP:0009078 increase in the number of normal cells in normal arrangement in the adrenal gland, typically resulting in increased size ISBN:0-683-40008-8 extrusion of the cartilaginous and gelatinous structure found between vertebrae prolapsed intervertebral disc MPheno.ontology MP:0009079 prolapsed intervertebral disk MP:0009079 extrusion of the cartilaginous and gelatinous structure found between vertebrae MGI:mberry prolapsed intervertebral disc https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in the uterus inflammation of the uterus metritis uterine inflammation MPheno.ontology MP:0009080 uterus inflammation MP:0009080 local accumulation of fluid, plasma proteins, and leukocytes in the uterus https://orcid.org/0000-0002-6490-7723 reduced thickness or depth of the female muscular organ of gestation thin metra MPheno.ontology MP:0009081 thin uterus MP:0009081 reduced thickness or depth of the female muscular organ of gestation https://orcid.org/0000-0002-6490-7723 presence of one or more fluid-filled sacs inside the lumen of the uterus; usually refers to benign growths cystic metra cystic uterus metral cyst metral cysts uterine cyst uterine cysts uterus cysts MPheno.ontology MP:0009082 uterus cyst MP:0009082 presence of one or more fluid-filled sacs inside the lumen of the uterus; usually refers to benign growths https://orcid.org/0000-0002-6490-7723 increase in the bulk size of the female muscular organ of gestation due to cell enlargement hypertrophic metra hypertrophic uterus metra hypertrophy metral hypertrophy uterine hypertrophy MPheno.ontology MP:0009083 uterus hypertrophy MP:0009083 increase in the bulk size of the female muscular organ of gestation due to cell enlargement https://orcid.org/0000-0002-6490-7723 presence of a female muscular organ of gestation that ends in a blind segment or sac and does not communicate with the cervix or vagina blind metra blind uterine body blind-ended uterus MPheno.ontology MP:0009084 blind uterus MP:0009084 presence of a female muscular organ of gestation that ends in a blind segment or sac and does not communicate with the cervix or vagina https://orcid.org/0000-0002-6490-7723 any structural anomaly of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet; uterine horns are anterior Mullerian duct-derived structures abnormal cornu uteri abnormal metral horn morphology MPheno.ontology MP:0009085 abnormal uterine horn morphology MP:0009085 any structural anomaly of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet; uterine horns are anterior Mullerian duct-derived structures https://orcid.org/0000-0002-6490-7723 presence of a blind-ended segment or pouch at the junction of the uterine horn and the uterine body; the blind horn is typically distended by fluid blind cornu uteri blind metral horn blind-ended uterine horn MPheno.ontology MP:0009086 blind uterine horn MP:0009086 presence of a blind-ended segment or pouch at the junction of the uterine horn and the uterine body; the blind horn is typically distended by fluid https://orcid.org/0000-0002-6490-7723 an expansion in the volume or area of one or both of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet, usually with an increase in contained fluid dilated cornu uteri dilated metral horn dilated metral horns dilated uterine horns uterine horn dilation MPheno.ontology MP:0009087 dilated uterine horn MP:0009087 an expansion in the volume or area of one or both of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet, usually with an increase in contained fluid https://orcid.org/0000-0002-6490-7723 reduced thickness of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet thin cornu uteri thin metral horn MPheno.ontology MP:0009088 thin uterine horn MP:0009088 reduced thickness of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet https://orcid.org/0000-0002-6490-7723 length reduction or truncation of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet decreased uterine horn length short cornu uteri short metral horn truncated uterine horn MPheno.ontology MP:0009089 short uterine horn MP:0009089 length reduction or truncation of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the myometrium, typically resulting in decreased size hypoplastic myometrium myometrial hypoplasia uterine smooth muscle hypoplasia MPheno.ontology uterus smooth muscle hypoplasia MP:0009090 myometrium hypoplasia MP:0009090 decrease in the number of normal cells in normal arrangement in the myometrium, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the endometrium, typically resulting in decreased size endometrial hypoplasia hypoplastic endometrium MPheno.ontology MP:0009091 endometrium hypoplasia MP:0009091 decrease in the number of normal cells in normal arrangement in the endometrium, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the endometrium, typically resulting in increased size endometrial hyperplasia hyperplastic endometrium MPheno.ontology MP:0009092 endometrium hyperplasia MP:0009092 increase in the number of normal cells in normal arrangement in the endometrium, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 a retrogressive impairment of function or destruction of the female germ cells MPheno.ontology MP:0009093 oocyte degeneration MP:0009093 a retrogressive impairment of function or destruction of the female germ cells https://orcid.org/0000-0002-6490-7723 any structural anomaly of the numerous simple or branched tubular glands lined by ciliated columnar epithelium and found in the mucus membrane of the uterus which secrete mucus, lipids, glycogen, and protein; endometrial glands and their secretions (termed histotroph) are critical regulators of peri-implantation embryo survival and implantation as well as establishment of uterine receptivity abnormal glandulae uterinae abnormal uterine glands MPheno.ontology MP:0009094 abnormal endometrial gland morphology MP:0009094 any structural anomaly of the numerous simple or branched tubular glands lined by ciliated columnar epithelium and found in the mucus membrane of the uterus which secrete mucus, lipids, glycogen, and protein; endometrial glands and their secretions (termed histotroph) are critical regulators of peri-implantation embryo survival and implantation as well as establishment of uterine receptivity https://orcid.org/0000-0002-6490-7723 abnormal number of the simple or branched tubular glands located in the mucous membrane of the uterus MPheno.ontology MP:0009095 abnormal endometrial gland number MP:0009095 abnormal number of the simple or branched tubular glands located in the mucous membrane of the uterus https://orcid.org/0000-0002-6490-7723 fewer than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus decreased number of uterine glands reduced endometrial gland number reduced number of uterine glands MPheno.ontology MP:0009096 decreased endometrial gland number MP:0009096 fewer than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus https://orcid.org/0000-0002-6490-7723 absence of the simple or branched tubular uterine glands absent glandulae uterinae absent uterine glands MPheno.ontology MP:0009097 absent endometrial glands MP:0009097 absence of the simple or branched tubular uterine glands https://orcid.org/0000-0002-6490-7723 an abnormal anatomical passage that connects the anal canal and the vagina ano-vaginal fistula MPheno.ontology MP:0009098 anovaginal fistula MP:0009098 an abnormal anatomical passage that connects the anal canal and the vagina https://orcid.org/0000-0002-6490-7723 any functional anomaly of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy CL:0002343 abnormal GMG cell physiology abnormal dNK cell physiology abnormal decidual NK cell physiology abnormal decidual natural killer cell physiology abnormal granulated metrial gland cell physiology abnormal uNK cell physiology abnormal uterine natural killer cell physiology MPheno.ontology MP:0009099 abnormal uterine NK cell physiology MP:0009099 any functional anomaly of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy PMID:14568979 PMID:19800965 anomaly in the size of the small cylindrical erectile body located at the most anterior portion of the vulva MPheno.ontology MP:0009100 abnormal clitoris size MP:0009100 anomaly in the size of the small cylindrical erectile body located at the most anterior portion of the vulva https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the clitoris, typically resulting in decreased size clitoral hypoplasia hypoplastic clitoris MPheno.ontology MP:0009101 clitoris hypoplasia MP:0009101 decrease in the number of normal cells in normal arrangement in the clitoris, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the conic expansion of the corpus spongiosum that forms the head of the penis abnormal balanus MPheno.ontology MP:0009102 abnormal glans penis morphology MP:0009102 any structural anomaly of the conic expansion of the corpus spongiosum that forms the head of the penis https://orcid.org/0000-0002-6490-7723 any structural anomaly of the unique bone located in the glans penis of most mammals except humans; it is used for copulation and varies in size and shape by species abnormal baculum abnormal os penis abnormal penis bone MPheno.ontology MP:0009103 abnormal penile bone morphology MP:0009103 any structural anomaly of the unique bone located in the glans penis of most mammals except humans; it is used for copulation and varies in size and shape by species https://orcid.org/0000-0002-6490-7723 size reduction or truncation of the unique bone of variable size and shape located in the glans penis of most mammals except humans small baculum small os penis small penial bone truncated penis bone MPheno.ontology MP:0009104 small penile bone MP:0009104 size reduction or truncation of the unique bone of variable size and shape located in the glans penis of most mammals except humans https://orcid.org/0000-0002-6490-7723 inability to withdraw the penis into the prepuce (the fold of skin covering the glans penis), other than a paraphimosis; not to be confused with phimosis penial prolapse penile prolapse MPheno.ontology MP:0009105 penis prolapse MP:0009105 inability to withdraw the penis into the prepuce (the fold of skin covering the glans penis), other than a paraphimosis; not to be confused with phimosis https://orcid.org/0000-0002-6490-7723 anomaly in the average size of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MPheno.ontology MP:0009106 abnormal pancreas size MP:0009106 anomaly in the average size of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MESH:A03.734 https://orcid.org/0000-0003-3691-0324 anomaly in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MPheno.ontology MP:0009107 abnormal pancreas weight MP:0009107 anomaly in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MESH:A03.734 https://orcid.org/0000-0003-3691-0324 increase in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MPheno.ontology MP:0009108 increased pancreas weight MP:0009108 increase in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MESH:A03.734 https://orcid.org/0000-0003-3691-0324 reduction in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream reduced pancreas weight MPheno.ontology MP:0009109 decreased pancreas weight MP:0009109 reduction in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MESH:A03.734 https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the pancrease, typically resulting in increased size hyperplastic pancreas pancreatic hyperplasia MPheno.ontology MP:0009110 pancreas hyperplasia MP:0009110 increase in the number of normal cells in normal arrangement in the pancrease, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the pancreas, typically resulting in decreased size hypoplastic pancreas pancreatic hypoplasia MPheno.ontology MP:0009111 pancreas hypoplasia MP:0009111 decrease in the number of normal cells in normal arrangement in the pancreas, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 anomaly in the total physical bulk or volume of a pancreatic beta cell compared to the normal state MPheno.ontology MP:0009112 abnormal pancreatic beta cell mass MP:0009112 anomaly in the total physical bulk or volume of a pancreatic beta cell compared to the normal state https://orcid.org/0000-0003-3691-0324 greater total physical bulk or volume of a pancreatic beta cell compared to the normal state MPheno.ontology MP:0009113 increased pancreatic beta cell mass MP:0009113 greater total physical bulk or volume of a pancreatic beta cell compared to the normal state https://orcid.org/0000-0003-3691-0324 reduced total physical bulk or volume of a pancreatic beta cell compared to the normal state reduced pancreatic beta cell mass MPheno.ontology MP:0009114 decreased pancreatic beta cell mass MP:0009114 reduced total physical bulk or volume of a pancreatic beta cell compared to the normal state https://orcid.org/0000-0003-3691-0324 any structural anomaly of a fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals MP:0004128 abnormal adipocyte morphology abnormal lipocyte morphology MPheno.ontology MP:0009115 abnormal fat cell morphology MP:0009115 any structural anomaly of a fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals CL:0000449 abnormal lipocyte morphology MESH:A11.329.114 any structural anomaly of cells from the thermogenic form of adipose tissue found in newborns of many species, including humans, and in hibernating mammals; brown fat is capable of rapid liberation of energy and seems to be important in the maintenance of body temperature immediately after birth and upon waking from hibernation; brown adipocytes contain multiple small droplets of triglycerides and a high number of mitochondria abnormal brown adipocyte morphology abnormal brown lipocyte morphology MPheno.ontology MP:0009116 abnormal brown fat cell morphology MP:0009116 any structural anomaly of cells from the thermogenic form of adipose tissue found in newborns of many species, including humans, and in hibernating mammals; brown fat is capable of rapid liberation of energy and seems to be important in the maintenance of body temperature immediately after birth and upon waking from hibernation; brown adipocytes contain multiple small droplets of triglycerides and a high number of mitochondria CL:0000449 GO:0050873 MESH:A.10.165.114.322 any structural anomaly of fat cells with light coloration and few mitochondria; these contain a scant ring of cytoplasm surrounding a single large lipid droplet or vacuole abnormal white adipocyte morphology abnormal white lipocyte morphology MPheno.ontology MP:0009117 abnormal white fat cell morphology MP:0009117 any structural anomaly of fat cells with light coloration and few mitochondria; these contain a scant ring of cytoplasm surrounding a single large lipid droplet or vacuole MESH:A11.329.114.500 increase in the size of fat cells with light coloration and few mitochondria increased white adipocyte size increased white lipocyte size white adipocyte hypertrophy white fat cell hypertrophy white lipocyte hypertrophy MPheno.ontology MP:0009118 increased white fat cell size MP:0009118 increase in the size of fat cells with light coloration and few mitochondria https://orcid.org/0000-0003-3691-0324 increase in the size of fat cells from the thermogenic form of adipose tissue brown adipocyte hypertrophy brown fat cell hypertrophy brown lipocyte hypertrophy increased brown adipocyte size increased brown lipocyte size MPheno.ontology MP:0009119 increased brown fat cell size MP:0009119 increase in the size of fat cells from the thermogenic form of adipose tissue MESH:A.10.165.114.322 anomaly in the size of the single large lipid droplet or vacuole of white fat cells abnormal white adipocyte lipid droplet size abnormal white lipocyte lipid droplet size MPheno.ontology MP:0009120 abnormal white fat cell lipid droplet size MP:0009120 anomaly in the size of the single large lipid droplet or vacuole of white fat cells https://orcid.org/0000-0003-3691-0324 increase in the size of the single large lipid droplet or vacuole of white fat cells increased white adipocyte lipid droplet size increased white lipocyte lipid droplet size MPheno.ontology MP:0009121 increased white fat cell lipid droplet size MP:0009121 increase in the size of the single large lipid droplet or vacuole of white fat cells https://orcid.org/0000-0003-3691-0324 reduction in the size of the single large lipid droplet or vacuole of white fat cells decreased white adipocyte lipid droplet size decreased white lipocyte lipid droplet size reduced white adipocyte lipid droplet size reduced white fat cell lipid droplet size reduced white lipocyte lipid droplet size MPheno.ontology MP:0009122 decreased white fat cell lipid droplet size MP:0009122 reduction in the size of the single large lipid droplet or vacuole of white fat cells https://orcid.org/0000-0003-3691-0324 anomaly in the size of the multiple small droplets of triglycerides found in brown adipocytes abnormal brown adipocyte lipid droplet size abnormal brown lipocyte lipid droplet size MPheno.ontology MP:0009123 abnormal brown fat cell lipid droplet size MP:0009123 anomaly in the size of the multiple small droplets of triglycerides found in brown adipocytes https://orcid.org/0000-0003-3691-0324 increase in the size of the multiple small droplets of triglycerides found in brown adipocytes increased brown adipocyte lipid droplet size increased brown lipocyte lipid droplet size MPheno.ontology MP:0009124 increased brown fat cell lipid droplet size MP:0009124 increase in the size of the multiple small droplets of triglycerides found in brown adipocytes https://orcid.org/0000-0003-3691-0324 reduction in the size of the multiple small droplets of triglycerides found in brown adipocytes decreased brown adipocyte lipid droplet size decreased brown lipocyte lipid droplet size reduced brown adipocyte lipid droplet size reduced brown fat cell lipid droplet size reduced brown lipocyte lipid droplet size MPheno.ontology MP:0009125 decreased brown fat cell lipid droplet size MP:0009125 reduction in the size of the multiple small droplets of triglycerides found in brown adipocytes https://orcid.org/0000-0003-3691-0324 anomaly in the number of fat cells from the thermogenic form of adipose tissue abnormal brown adipocyte cell number abnormal brown lipocyte cell number MPheno.ontology MP:0009126 abnormal brown fat cell number MP:0009126 anomaly in the number of fat cells from the thermogenic form of adipose tissue MESH:A.10.165.114.322 https://orcid.org/0000-0003-3691-0324 increase in the number of fat cells from the thermogenic form of adipose tissue increased brown adipocyte cell number increased brown lipocyte cell number MPheno.ontology MP:0009127 increased brown fat cell number MP:0009127 increase in the number of fat cells from the thermogenic form of adipose tissue MESH:A.10.165.114.322 https://orcid.org/0000-0003-3691-0324 reduction in the number of fat cells from the thermogenic form of adipose tissue decreased brown adipocyte cell number decreased brown lipocyte cell number reduced brown adipocyte cell number reduced brown fat cell number reduced brown lipocyte cell number MPheno.ontology MP:0009128 decreased brown fat cell number MP:0009128 reduction in the number of fat cells from the thermogenic form of adipose tissue MESH:A.10.165.114.322 https://orcid.org/0000-0003-3691-0324 anomaly in the number of fat cells with light coloration and few mitochondria abnormal white adipocyte cell number abnormal white lipocyte cell number MPheno.ontology MP:0009129 abnormal white fat cell number MP:0009129 anomaly in the number of fat cells with light coloration and few mitochondria https://orcid.org/0000-0003-3691-0324 increase in the number of fat cells with light coloration and few mitochondria increased white adipocyte cell number increased white lipocyte cell number MPheno.ontology MP:0009130 increased white fat cell number MP:0009130 increase in the number of fat cells with light coloration and few mitochondria https://orcid.org/0000-0003-3691-0324 reduction in the number of fat cells with light coloration and few mitochondria decreased white adipocyte cell number decreased white lipocyte cell number reduced white adipocyte cell number reduced white fat cell number reduced white lipocyte cell number MPheno.ontology MP:0009131 decreased white fat cell number MP:0009131 reduction in the number of fat cells with light coloration and few mitochondria https://orcid.org/0000-0003-3691-0324 anomaly in the size of fat cells with light coloration and few mitochondria abnormal white adipocyte size abnormal white lipocyte size MPheno.ontology MP:0009132 abnormal white fat cell size MP:0009132 anomaly in the size of fat cells with light coloration and few mitochondria https://orcid.org/0000-0003-3691-0324 reduction in the size of fat cells with light coloration and few mitochondria decreased white adipocyte size decreased white lipocyte size reduced white adipocyte size reduced white fate cell size reduced white lipocyte size white adipocyte hypotrophy white fat cell hypotrophy white lipocyte hypotrophy MPheno.ontology MP:0009133 decreased white fat cell size MP:0009133 reduction in the size of fat cells with light coloration and few mitochondria https://orcid.org/0000-0003-3691-0324 anomaly in the number of the multiple small droplets of triglycerides found in brown adipocytes MPheno.ontology MP:0009134 abnormal brown fat lipid droplet number MP:0009134 anomaly in the number of the multiple small droplets of triglycerides found in brown adipocytes https://orcid.org/0000-0003-3691-0324 anomaly in the size of fat cells from the thermogenic form of adipose tissue abnormal brown adipocyte size abnormal brown lipocyte size MPheno.ontology MP:0009135 abnormal brown fat cell size MP:0009135 anomaly in the size of fat cells from the thermogenic form of adipose tissue MESH:A.10.165.114.322 reduction in the size of fat cells from the thermogenic form of adipose tissue brown adipocyte hypotrophy brown fat cell hypotrophy brown lipocyte hypotrophy decreased brown adipocyte size decreased brown lipocyte size reduced brown adipocyte size reduced brown fat cell size reduced brown lipocyte size MPheno.ontology MP:0009136 decreased brown fat cell size MP:0009136 reduction in the size of fat cells from the thermogenic form of adipose tissue MESH:A.10.165.114.322 reduction in the number of the multiple small droplets of triglycerides found in brown adipocytes decreased brown adipocyte lipid droplet number decreased brown lipocyte lipid droplet number reduced brown adipocyte lipid droplet number reduced brown fat lipid droplet number reduced brown lipocyte lipid droplet number MPheno.ontology MP:0009137 decreased brown fat lipid droplet number MP:0009137 reduction in the number of the multiple small droplets of triglycerides found in brown adipocytes https://orcid.org/0000-0003-3691-0324 increase in the number of the multiple small droplets of triglycerides found in brown adipocytes increased brown adipocyte lipid droplet number increased brown lipocyte lipid droplet number MPheno.ontology MP:0009138 increased brown fat lipid droplet number MP:0009138 increase in the number of the multiple small droplets of triglycerides found in brown adipocytes https://orcid.org/0000-0003-3691-0324 failure of the transient embryonic paramesonephric ducts, which normally develop into the oviduct, uterus, cervix and upper vagina in the female, to regress in the male; persistence of Mullerian ducts is typically consistent with a loss of anti-Mullerian hormone signaling and may allow development of the female reproductive tract in males non-regressed Mullerian ducts persistence of Mullerian ducts in males persistent Mullerian ducts MPheno.ontology MP:0009139 failure of Mullerian duct regression MP:0009139 failure of the transient embryonic paramesonephric ducts, which normally develop into the oviduct, uterus, cervix and upper vagina in the female, to regress in the male; persistence of Mullerian ducts is typically consistent with a loss of anti-Mullerian hormone signaling and may allow development of the female reproductive tract in males https://orcid.org/0000-0002-6490-7723 an expansion in the volume or area of the lumen of one or more of the small seminal ducts that lead from the testis to the head of the epididymis, usually with an increase in contained fluid dilated ductuli efferentes testis dilated efferent ducts dilated efferent ductules of testis dilated vas efferens efferent ductule of testis dilation efferent ductules of testis dilation vas efferens dilation MPheno.ontology MP:0009140 dilated efferent ductule of testis MP:0009140 an expansion in the volume or area of the lumen of one or more of the small seminal ducts that lead from the testis to the head of the epididymis, usually with an increase in contained fluid https://orcid.org/0000-0002-6490-7723 increase in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus increased PPI MPheno.ontology MP:0009141 increased prepulse inhibition MP:0009141 increase in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus https://orcid.org/0000-0003-4606-0597 decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus decreased PPI reduced PPI reduced prepulse inhibition MPheno.ontology MP:0009142 decreased prepulse inhibition MP:0009142 decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus https://orcid.org/0000-0003-4606-0597 any structural anomaly of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum abnormal Hoffmann duct morphology abnormal Wirsung canal morphology abnormal Wirsung's duct morphology abnormal duct of Wirsung morphology abnormal ductus pancreaticus morphology MPheno.ontology MP:0009143 abnormal pancreatic duct morphology MP:0009143 any structural anomaly of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum ISBN:0-683-40008-8 MESH:A03.734.667 an increase in volume of the luminal space of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum Hoffmann duct dilation Wirsung canal dilation Wirsung's duct dilation dilated Hoffmann duct dilated Wirsung canal dilated Wirsung's duct dilated duct of Wirsung dilated ductus pancreaticus dilated pancreatic ducts ductus pancreaticus dilation pancreatic duct dilation MPheno.ontology MP:0009144 dilated pancreatic duct MP:0009144 an increase in volume of the luminal space of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum ISBN:0-683-40008-8 MESH:A03.734.667 any structural anomaly of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct abnormal pancreatic acini MPheno.ontology MP:0009145 abnormal pancreatic acinus morphology MP:0009145 any structural anomaly of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct ISBN:0-683-40008-8 any structural anomaly of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes abnormal pancreatic exocrine cell morphology MPheno.ontology MP:0009146 abnormal pancreatic acinar cell morphology MP:0009146 any structural anomaly of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any functional anomaly of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes MPheno.ontology MP:0009147 abnormal pancreatic acinar cell physiology MP:0009147 any functional anomaly of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 morphological changes resulting from pathological death of pancreas tissue; usually due to irreversible damage necrotic pancreas MPheno.ontology MP:0009148 pancreas necrosis MP:0009148 morphological changes resulting from pathological death of pancreas tissue; usually due to irreversible damage https://orcid.org/0000-0003-3691-0324 reduced number of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes decreased pancreatic exocrine cell number reduced pancreatic exocrine cell number reduced pancreatic acinar cell number pancreatic acinar cell hypoplasia MPheno.ontology MP:0009149 decreased pancreatic acinar cell number MP:0009149 reduced number of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 acquired diminution of the pancreatic acinar cells associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes pancreatic exocrine cell atrophy MPheno.ontology MP:0009150 pancreatic acinar cell atrophy MP:0009150 acquired diminution of the pancreatic acinar cells associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0003-3691-0324 greater than the expected number of an adenocarcinoma that arises from the pancreatic ducts, occurring in a specific population in a given time period MPheno.ontology PDAC pancreatic duct cell carcinoma pancreatic ductal adenocarcinoma MP:0009151 increased pancreatic ductal adenocarcinoma incidence MP:0009151 greater than the expected number of an adenocarcinoma that arises from the pancreatic ducts, occurring in a specific population in a given time period MESH:C04.557.470.200.025.232.750 greater than the expected number of noninvasive pancreatic duct lesions that affect smaller caliber ducts and do not involve the main pancreatic duct, occurring in a specific population in a given time period MPheno.ontology PanIN pancreatic intraepithelial neoplasia MP:0009152 increased pancreatic intraepithelial neoplasia incidence MP:0009152 greater than the expected number of noninvasive pancreatic duct lesions that affect smaller caliber ducts and do not involve the main pancreatic duct, occurring in a specific population in a given time period PMID:11342768 greater than the expected number of neoplams in the pancreas occurring in a specific population in a given time period increased pancreas tumour incidence MPheno.ontology pancreas cancer pancreas neoplasms pancreatic cancer pancreatic neoplasms pancreatic tumor pancreatic tumour MP:0009153 increased pancreas tumor incidence MP:0009153 greater than the expected number of neoplams in the pancreas occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the pancreatic acinus, typically resulting in decreased size; in this context, normal cells are meant to include different cell types such as pancreatic acinar cells and pancreatic centro-acinar cells hypoplastic pancreatic acinus MPheno.ontology MP:0009154 pancreatic acinar hypoplasia MP:0009154 decrease in the number of normal cells in normal arrangement in the pancreatic acinus, typically resulting in decreased size; in this context, normal cells are meant to include different cell types such as pancreatic acinar cells and pancreatic centro-acinar cells ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the pancreatic acinus, typically resulting in increased size; in this context, normal cells are meant to include different cell types such as pancreatic acinar cells and pancreatic centro-acinar cells hyperplastic pancreatic acinus MPheno.ontology MP:0009155 pancreatic acinar hyperplasia MP:0009155 increase in the number of normal cells in normal arrangement in the pancreatic acinus, typically resulting in increased size; in this context, normal cells are meant to include different cell types such as pancreatic acinar cells and pancreatic centro-acinar cells ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 absence of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct MPheno.ontology MP:0009156 absent pancreatic acini MP:0009156 absence of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct ISBN:0-683-40008-8 abnormal position of one or more of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes MPheno.ontology ectopic pancreatic exocrine cells MP:0009157 ectopic pancreatic acinar cells MP:0009157 abnormal position of one or more of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes ISBN:0-683-40008-8 absence of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes absent pancreatic exocrine cell MPheno.ontology MP:0009158 absent pancreatic acinar cells MP:0009158 absence of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes ISBN:0-683-40008-8 increased number of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes increased pancreatic exocrine cell number pancreatic acinar cell hyperplasia MPheno.ontology MP:0009159 increased pancreatic acinar cell number MP:0009159 increased number of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes ISBN:0-683-40008-8 any structural anomaly of a membrane-bounded, cytoplasmic secretory granule found in pancreatic acinar cells and contains inactive digestive enzyme precursors MPheno.ontology MP:0009160 abnormal pancreatic acinar cell zymogen granule morphology MP:0009160 any structural anomaly of a membrane-bounded, cytoplasmic secretory granule found in pancreatic acinar cells and contains inactive digestive enzyme precursors https://orcid.org/0000-0003-3691-0324 a gradually increasing number of membrane-bounded, cytoplasmic secretory granules found in pancreatic acinar cells that contain inactive digestive enzyme precursors MPheno.ontology MP:0009161 pancreatic acinar cell zymogen granule accumulation MP:0009161 a gradually increasing number of membrane-bounded, cytoplasmic secretory granules found in pancreatic acinar cells that contain inactive digestive enzyme precursors https://orcid.org/0000-0003-3691-0324 absence of a membrane-bounded, cytoplasmic secretory granule found in pancreatic acinar cells and contains inactive digestive enzyme precursors MPheno.ontology MP:0009162 absent pancreatic acinar cell zymogen granule MP:0009162 absence of a membrane-bounded, cytoplasmic secretory granule found in pancreatic acinar cells and contains inactive digestive enzyme precursors https://orcid.org/0000-0003-3691-0324 absence of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum absent Hoffmann duct absent Wirsung canal absent Wirsung's duct absent duct of Wirsung absent ductus pancreaticus MPheno.ontology MP:0009163 absent pancreatic duct MP:0009163 absence of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum ISBN:0-683-40008-8 MESH:A03.734.667 acquired diminution of the size of the acinar gland portion of the pancreas that secretes digestive enzymes, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes atrophic exocrine pancreas MPheno.ontology MP:0009164 exocrine pancreas atrophy MP:0009164 acquired diminution of the size of the acinar gland portion of the pancreas that secretes digestive enzymes, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0003-3691-0324 any structural anomaly of the smaller portion of the pancreas that secretes a number of hormones into the blood stream that are produced by the cells in the islets of Langerhans MPheno.ontology MP:0009165 abnormal endocrine pancreas morphology MP:0009165 any structural anomaly of the smaller portion of the pancreas that secretes a number of hormones into the blood stream that are produced by the cells in the islets of Langerhans MESH:A03.734 anomaly in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas abnormal islands of Langerhans number abnormal islet cell number abnormal islet of Langerhans number MPheno.ontology MP:0009166 abnormal pancreatic islet number MP:0009166 anomaly in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas MA:0000127 MESH:A03.734.414 increase in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas increased islands of Langerhans number increased islet cell number increased islet of Langerhans number MPheno.ontology MP:0009167 increased pancreatic islet number MP:0009167 increase in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas MA:0000127 MESH:A03.734.414 reduction in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas decreased islands of Langerhans number decreased islet cell number decreased islet of Langerhans number reduced islands of Langerhans number reduced islet cell number reduced islet of Langerhans number MPheno.ontology MP:0009168 decreased pancreatic islet number MP:0009168 reduction in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas MA:0000127 MESH:A03.734.414 decrease in the number of normal cells in normal arrangement in the pancreatic islets, typically resulting in decreased size hypoplastic pancreatic islets MPheno.ontology MP:0009169 pancreatic islet hypoplasia MP:0009169 decrease in the number of normal cells in normal arrangement in the pancreatic islets, typically resulting in decreased size MA:0000127 MESH:A03.734.414 anomaly in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas abnormal islands of Langerhans size abnormal islet cell size abnormal islet of Langerhans size MPheno.ontology MP:0009170 abnormal pancreatic islet size MP:0009170 anomaly in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas MA:0000127 MESH:A03.734.414 increase in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas enlarged islands of Langerhans enlarged islet cell enlarged islet of Langerhans increased islands of Langerhans size increased islet cell size increased islet of Langerhans size MPheno.ontology MP:0009171 enlarged pancreatic islets MP:0009171 increase in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas MA:0000127 MESH:A03.734.414 decrease in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas decreased islands of Langerhans size decreased islet cell size decreased islet of Langerhans size reduced islands of Langerhans size reduced islet cell size reduced islet of Langerhans size small islands of Langerhans small islet cell small islet of Langerhans MPheno.ontology MP:0009172 small pancreatic islets MP:0009172 decrease in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas MA:0000127 MESH:A03.734.414 absence of the clusters of hormone-producing cells that are scattered throughout the pancreas absent islands of Langerhans absent islet cell absent islet of Langerhans MPheno.ontology MP:0009173 absent pancreatic islets MP:0009173 absence of the clusters of hormone-producing cells that are scattered throughout the pancreas MA:0000127 MESH:A03.734.414 absence of the cells of the pancreas that secrete insulin absent insulin-secreting cells absent pancreatic B cells MPheno.ontology MP:0009174 absent pancreatic beta cells MP:0009174 absence of the cells of the pancreas that secrete insulin MESH:A03.734.414.131 atypical production of or inability to produce the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas, and/or accumulation of pancreatic beta cell precursors abnormal insulin-secreting cell differentiation abnormal pancreatic B cell differentiation MPheno.ontology MP:0009175 abnormal pancreatic beta cell differentiation MP:0009175 atypical production of or inability to produce the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas, and/or accumulation of pancreatic beta cell precursors CL:0000169 increase in the number of the cells of the pancreas that secrete glucagon increased glucagon-secreting cell number increased pancreas alpha cell number increased pancreatic A cell number MPheno.ontology MP:0009176 increased pancreatic alpha cell number MP:0009176 increase in the number of the cells of the pancreas that secrete glucagon MESH:A03.734.414.065 reduction in the number of the cells of the pancreas that secrete glucagon decreased glucagon-secreting cell number decreased pancreatic A cell number reduced glucagon-secreting cell number reduced pancreatic A cell number reduced pancreatic alpha cell number MPheno.ontology MP:0009177 decreased pancreatic alpha cell number MP:0009177 reduction in the number of the cells of the pancreas that secrete glucagon MESH:A03.734.414.065 absence of the cells of the pancreas that secrete glucagon absent glucagon-secreting cell absent pancreatic A cell MPheno.ontology MP:0009178 absent pancreatic alpha cells MP:0009178 absence of the cells of the pancreas that secrete glucagon MESH:A03.734.414.065 atypical production of or inability to produce the cells of the pancreas that secrete glucagon, and/or accumulation of pancreatic alpha cell precursors abnormal glucagon-secreting cell differentiation abnormal pancreatic A cell differentiation MPheno.ontology MP:0009179 abnormal pancreatic alpha cell differentiation MP:0009179 atypical production of or inability to produce the cells of the pancreas that secrete glucagon, and/or accumulation of pancreatic alpha cell precursors MESH:A03.734.414.065 increased number of the cells found in the pancreas that secrete somatostatin increased D cell number increased pancreatic D cell number increased somatostatin-secreting cell number MPheno.ontology MP:0009180 increased pancreatic delta cell number MP:0009180 increased number of the cells found in the pancreas that secrete somatostatin MESH:A03.556.875.875.440.854 reduced number of the cells found in the pancreas that secrete somatostatin decreased D cell number decreased pancreatic D cell number decreased somatostatin-secreting cell number reduced D cell number reduced pancreatic D cell number reduced somatostatin-secreting cell number MPheno.ontology MP:0009181 decreased pancreatic delta cell number MP:0009181 reduced number of the cells found in the pancreas that secrete somatostatin MESH:A03.556.875.875.440.854 absence of the cells found in the pancreas that secrete somatostatin absent pancreatic D cells absent D cells absent somatostatin-secreting cells MPheno.ontology MP:0009182 absent pancreatic delta cells MP:0009182 absence of the cells found in the pancreas that secrete somatostatin MESH:A03.556.875.875.440.854 atypical production of or inability to produce the cells found in the pancreas that secrete somatostatin, and/or accumulation of pancreatic delta cell precursors abnormal D cell differentiation abnormal pancreatic D cell differentiation abnormal somatostatin-secreting cell differentiation MPheno.ontology MP:0009183 abnormal pancreatic delta cell differentiation MP:0009183 atypical production of or inability to produce the cells found in the pancreas that secrete somatostatin, and/or accumulation of pancreatic delta cell precursors MESH:A03.556.875.875.440.854 any structural anomaly of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas abnormal F cell morphology abnormal pancreatic polypeptide cell morphology abnormal pancreatic polypeptide-secreting cell morphology MPheno.ontology MP:0009184 abnormal PP cell morphology MP:0009184 any structural anomaly of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas CL:0000696 MESH:A03.734.414.587 increased number of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas increased F cell number increased pancreatic polypeptide cell number increased pancreatic polypeptide-secreting cell number MPheno.ontology MP:0009185 increased PP cell number MP:0009185 increased number of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas CL:0000696 MESH:A03.734.414.587 reduced number of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas decreased F cell number decreased pancreatic polypeptide cell number decreased pancreatic polypeptide-secreting cell number reduced F cell number reduced pancreatic polypeptide cell number reduced pancreatic polypeptide-secreting cell number MPheno.ontology MP:0009186 decreased PP cell number MP:0009186 reduced number of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas CL:0000696 MESH:A03.734.414.587 absence of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas absent F cells absent pancreatic polypeptide cells absent pancreatic polypeptide-secreting cells MPheno.ontology MP:0009187 absent PP cells MP:0009187 absence of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas CL:0000696 MESH:A03.734.414.587 atypical production of or inability to produce the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas, and/or accumulation of PP cell precursors abnormal F cell differentiation abnormal pancreatic polypeptide cell differentiation abnormal pancreatic polypeptide-secreting cell differentiation MPheno.ontology MP:0009188 abnormal PP cell differentiation MP:0009188 atypical production of or inability to produce the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas, and/or accumulation of PP cell precursors CL:0000696 MESH:A03.734.414.587 any structural anomaly of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin abnormal ghrelin-secreting cell morphology MPheno.ontology MP:0009189 abnormal pancreatic epsilon cell morphology MP:0009189 any structural anomaly of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin PMID:14970313 increase in the number of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin increased ghrelin-secreting cell number MPheno.ontology MP:0009190 increased pancreatic epsilon cell number MP:0009190 increase in the number of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin PMID:14970313 reduction in the number of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin decreased ghrelin-secreting cell number reduced ghrelin-secreting cell number MPheno.ontology MP:0009191 decreased pancreatic epsilon cell number MP:0009191 reduction in the number of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin PMID:14970313 absence of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin absent ghrelin-secreting cell MPheno.ontology MP:0009192 absent pancreatic epsilon cells MP:0009192 absence of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin PMID:14970313 atypical production of or inability to produce the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin, and/or accumulation of pancreatic epsilon cell precursors abnormal ghrelin-secreting cell differentiation MPheno.ontology MP:0009193 abnormal pancreatic epsilon cell differentiation MP:0009193 atypical production of or inability to produce the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin, and/or accumulation of pancreatic epsilon cell precursors PMID:14970313 any functional anomaly of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin abnormal ghrelin-secreting cell physiology MPheno.ontology MP:0009194 abnormal pancreatic epsilon cell physiology MP:0009194 any functional anomaly of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin PMID:14970313 any functional anomaly of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas abnormal F cell physiology abnormal pancreatic polypeptide cell physiology abnormal pancreatic polypeptide-secreting cell physiology MPheno.ontology MP:0009195 abnormal PP cell physiology MP:0009195 any functional anomaly of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas CL:0000696 MESH:A03.734.414.587 anomaly in the production and/or regulated release from pancreatic epsilon cells of a 28-amino acid, acylated, orexigenic peptide that acts centrally to stimulate growth hormone secretion and food intake, and peripherally to regulate energy homeostasis; it is cleaved from a large precursor protein, known as appetite-regulating hormone or motilin-related peptide, which contains both ghrelin and obestatin MPheno.ontology MP:0009196 Ghrelin-secreting cells are found mainly in the stomach and duodenum, but also in the jejunum, lungs, pancreatic islets, gonads, adrenal cortex, placenta, kidney and brain. abnormal pancreatic ghrelin secretion MP:0009196 anomaly in the production and/or regulated release from pancreatic epsilon cells of a 28-amino acid, acylated, orexigenic peptide that acts centrally to stimulate growth hormone secretion and food intake, and peripherally to regulate energy homeostasis; it is cleaved from a large precursor protein, known as appetite-regulating hormone or motilin-related peptide, which contains both ghrelin and obestatin MESH:D06.472.699.301 anomaly in the production and/or regulated release of the 36-amino acid pancreatic hormone that is secreted mainly by endocrine cells found at the periphery of the islets of Langerhans in response to ingestions, and regulates gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite abnormal PP secretion abnormal pancreatic polypeptide hormone secretion abnormal pancreatic prohormone secretion MPheno.ontology MP:0009197 abnormal pancreatic polypeptide secretion MP:0009197 anomaly in the production and/or regulated release of the 36-amino acid pancreatic hormone that is secreted mainly by endocrine cells found at the periphery of the islets of Langerhans in response to ingestions, and regulates gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite ISBN:0-683-40008-8 MESH:D06.472.699.587.700 any structural anomaly of the masculine organs of reproduction or generation, external or internal abnormal male genitals abnormal male organa genitalia abnormal masculine genital organs MPheno.ontology MP:0009198 abnormal male genitalia morphology MP:0009198 any structural anomaly of the masculine organs of reproduction or generation, external or internal https://orcid.org/0000-0002-6490-7723 any structural anomaly of the external masculine genital organs, including the penis and scrotum abnormal external male genitals abnormal external male organa genitalia abnormal external masculine genital organs abnormal organa genitalia masculina externa MPheno.ontology MP:0009199 abnormal external male genitalia morphology MP:0009199 any structural anomaly of the external masculine genital organs, including the penis and scrotum https://orcid.org/0000-0002-6490-7723 increased size of the external masculine genital organs, including the penis and scrotum enlarged external male genitals increased external male genitalia size large external male organa genitalia large external masculine genital organs large organa genitalia masculina externa MPheno.ontology MP:0009200 enlarged external male genitalia MP:0009200 increased size of the external masculine genital organs, including the penis and scrotum https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of the external masculine genital organs, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes atrophic external male genitals external male genital atrophy external male organa genitalia atrophy external masculine genital organ atrophy organa genitalia masculina externa atrophy MPheno.ontology MP:0009201 external male genitalia atrophy MP:0009201 acquired diminution of the size of the external masculine genital organs, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 reduced size of the external masculine genital organs decreased external male genitalia size reduced external male genitalia size small external male genitals small external male organa genitalia small external masculine genital organs small organa genitalia masculina externa MPheno.ontology MP:0009202 small external male genitalia MP:0009202 reduced size of the external masculine genital organs https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the external male genitalia, typically resulting in decreased size UMLS:C0341787 external male genital hypoplasia external male organa genitalia hypoplasia external masculine genital organ hypoplasia hypoplastic external male genitalia hypoplastic male external genitalia organa genitalia masculina externa hypoplasia MPheno.ontology MP:0009203 external male genitalia hypoplasia MP:0009203 decrease in the number of normal cells in normal arrangement in the external male genitalia, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 absence of the external masculine genital organs, including the penis and scrotum absent external male genitals absent external male organa genitalia absent external masculine genital organs absent organa genitalia masculina externa MPheno.ontology MP:0009204 absent external male genitalia MP:0009204 absence of the external masculine genital organs, including the penis and scrotum https://orcid.org/0000-0003-3691-0324 any structural anomaly of the internal masculine genital organs, including the testes, epididymides, deferent ducts, seminal vesicles, prostate, ejaculatory ducts, and bulbourethral glands abnormality of male internal genitalia abnormal internal male genital organs abnormal internal male genitals abnormal organa genitalia masculina interna MPheno.ontology MP:0009205 abnormal internal male genitalia morphology MP:0009205 any structural anomaly of the internal masculine genital organs, including the testes, epididymides, deferent ducts, seminal vesicles, prostate, ejaculatory ducts, and bulbourethral glands https://orcid.org/0000-0002-6490-7723 absence of the internal masculine genital organs, including the testes, epididymides, deferent ducts, seminal vesicles, prostate, ejaculatory ducts, and bulbourethral glands absent internal male genital organs absent internal male genitals absent organa genitalia masculina interna MPheno.ontology MP:0009206 absent internal male genitalia MP:0009206 absence of the internal masculine genital organs, including the testes, epididymides, deferent ducts, seminal vesicles, prostate, ejaculatory ducts, and bulbourethral glands https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the internal male genitalia, typically resulting in decreased size hypoplastic internal male genitalia internal male genital hypoplasia internal male genital organ hypoplasia organa genitalia masculina interna hypoplasia MPheno.ontology MP:0009207 internal male genitalia hypoplasia MP:0009207 decrease in the number of normal cells in normal arrangement in the internal male genitalia, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the feminine organs of reproduction or generation, external or internal abnormal female genitals abnormal female organa genitalia abnormal feminine genital organs MPheno.ontology MP:0009208 abnormal female genitalia morphology MP:0009208 any structural anomaly of the feminine organs of reproduction or generation, external or internal https://orcid.org/0000-0002-6490-7723 any structural anomaly of the internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina abnormality of female internal genitalia abnormal internal female genital organs abnormal internal female genitals abnormal organa genitalia feminina interna MPheno.ontology MP:0009209 abnormal internal female genitalia morphology MP:0009209 any structural anomaly of the internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina https://orcid.org/0000-0002-6490-7723 absence of the internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina absent internal female genital organs absent internal female genitals absent organa genitalia feminina interna MPheno.ontology MP:0009210 absent internal female genitalia MP:0009210 absence of the internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina https://orcid.org/0000-0002-6490-7723 absence of the external feminine genital organs, collectively known as the vulva absent cunnus absent external female genital organs absent external female genitals absent organa genitalia feminina externa absent vulva missing external female genitals vulval agenesis vulval aplasia MPheno.ontology MP:0009211 absent external female genitalia MP:0009211 absence of the external feminine genital organs, collectively known as the vulva https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of the external feminine genital organs, collectively known as the vulva, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes atrophic cunnus atrophic external female genital organs atrophic external female genitalia atrophic external female genitals atrophic organa genitalia feminina externa atrophic vulva cunnus atrophy vulval atrophy MPheno.ontology MP:0009212 vulva atrophy MP:0009212 acquired diminution of the size of the external feminine genital organs, collectively known as the vulva, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 absence of the passage in the lower abdominal wall through which the spermatic cord, nerves and vessels normally pass from the pelvic cavity to the scrotum absent male Velpeau canal absent male abdominal canal absent male canalis inguinalis MPheno.ontology MP:0009213 absent male inguinal canal MP:0009213 absence of the passage in the lower abdominal wall through which the spermatic cord, nerves and vessels normally pass from the pelvic cavity to the scrotum https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the vas deferens, typically resulting in decreased size ductus deferens hypoplasia hypoplastic ductus deferens hypoplastic vas deferens MPheno.ontology MP:0009214 vas deferens hypoplasia MP:0009214 decrease in the number of normal cells in normal arrangement in the vas deferens, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 absence of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet absent cornu uteri absent metral horn missing uterine horn MPheno.ontology MP:0009215 absent uterine horn MP:0009215 absence of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet https://orcid.org/0000-0002-6490-7723 any structural anomaly of the serous sac, consisting of mesothelium and a thin external layer of irregular connective tissue, that lines the abdominopelvic cavity and covers most of the viscera contained therein; it forms two sacs: the peritoneal (or greater) sac and the omental bursa (lesser sac) connected by the omental foramen abnormal membrana abdominis MPheno.ontology MP:0009216 abnormal peritoneum morphology MP:0009216 any structural anomaly of the serous sac, consisting of mesothelium and a thin external layer of irregular connective tissue, that lines the abdominopelvic cavity and covers most of the viscera contained therein; it forms two sacs: the peritoneal (or greater) sac and the omental bursa (lesser sac) connected by the omental foramen https://orcid.org/0000-0002-6490-7723 any structural anomaly of the peritoneal diverticulum in the embryonic lower anterior abdominal wall that traverses the inguinal canal; in the male it forms the tunica vaginalis testis and normally loses its connection with the peritoneal cavity; a persistent processus vaginalis in the female is known as the canal of Nuck abnormal Nuck diverticulum abnormal processus vaginalis peritonei abnormal vaginal process of peritoneum abnormal vaginal process of testis MPheno.ontology MP:0009217 abnormal peritoneal vaginal process morphology MP:0009217 any structural anomaly of the peritoneal diverticulum in the embryonic lower anterior abdominal wall that traverses the inguinal canal; in the male it forms the tunica vaginalis testis and normally loses its connection with the peritoneal cavity; a persistent processus vaginalis in the female is known as the canal of Nuck https://orcid.org/0000-0002-6490-7723 absence of the peritoneal diverticulum in the embryonic lower anterior abdominal wall that traverses the inguinal canal absent processus vaginalis peritonei absent vaginal process of peritoneum missing vaginal process of testis MPheno.ontology MP:0009218 absent peritoneal vaginal process MP:0009218 absence of the peritoneal diverticulum in the embryonic lower anterior abdominal wall that traverses the inguinal canal https://orcid.org/0000-0002-6490-7723 higher than normal incidence of a non-invasive neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland MPheno.ontology PIN prostate intra-epithelial neoplasia prostate intraepithelial neoplasia prostatic intraepithelial neoplasia MP:0009219 increased prostate intraepithelial neoplasia incidence MP:0009219 higher than normal incidence of a non-invasive neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland https://orcid.org/0000-0003-3691-0324 higher than normal incidence of a malignant neoplasm arising from prostate tissue MPheno.ontology prostate adenocarcinoma prostate gland adenocarcinoma MP:0009220 increased prostate gland adenocarcinoma incidence MP:0009220 higher than normal incidence of a malignant neoplasm arising from prostate tissue https://orcid.org/0000-0003-3691-0324 a benign invasion of myometrium by endometrial tissue adenomyometritis adenomyosis adenomyosis uteri endometriosis interna endometriosis of myometrium endometriosis uterina uterine adenomyosis uterus corpus adenomyosis uterus endometriosis MPheno.ontology MP:0009221 uterus adenomyosis MP:0009221 a benign invasion of myometrium by endometrial tissue https://orcid.org/0000-0002-6490-7723 greater than the expected number of abnormal rapidly proliferating cells in the uterus, usually in the form of a distinct mass, occurring in a specific population in a given time period increased uterus tumour incidence MPheno.ontology uterine mass uterine tumor uterine tumour uterus tumor uterus tumour MP:0009222 increased uterus tumor incidence MP:0009222 greater than the expected number of abnormal rapidly proliferating cells in the uterus, usually in the form of a distinct mass, occurring in a specific population in a given time period https://orcid.org/0000-0002-6490-7723 greater than the expected number of malignant neoplasms derived from uterine epithelial cells, occurring in a specific population in a given time period increased uterine carcinoma incidence MPheno.ontology MP:0009223 increased uterus carcinoma incidence MP:0009223 greater than the expected number of malignant neoplasms derived from uterine epithelial cells, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 absence of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy MPheno.ontology MP:0009224 absent endometrium MP:0009224 absence of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy MESH:A05.360.319.679.490 https://orcid.org/0000-0002-6490-7723 anomaly in the size of the lower opening of the uterus to the vagina abnormal cervix size abnormal canalis cervicis uteri size abnormal caudal segment of uterus size abnormal cervical canal of uterus size abnormal cervical canal size abnormal cervix uteri size abnormal neck of uterus size MPheno.ontology MP:0009225 abnormal uterine cervix size MP:0009225 anomaly in the size of the lower opening of the uterus to the vagina https://orcid.org/0000-0002-6490-7723 reduced size of the lower opening of the uterus to the vagina decreased cervix size reduced cervical size reduced cervix size small cervix decreased canalis cervicis uteri size decreased caudal segment of uterus size decreased cervical canal of uterus size decreased cervical canal size decreased cervix uteri size decreased neck of uterus size reduced canalis cervicis uteri size reduced caudal segment of uterus size reduced cervical canal of uterus size reduced cervical canal size reduced cervix uteri size reduced neck of uterus size small cervix uteri small neck of uterus small neck of womb MPheno.ontology MP:0009226 small uterine cervix MP:0009226 reduced size of the lower opening of the uterus to the vagina https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the uterine cervix, typically resulting in decreased size cervical hypoplasia cervix hypoplasia hypoplastic cervix canalis cervicis uteri hypoplasia caudal segment of uterus hypoplasia cervical canal hypoplasia cervical canal of uterus hypoplasia cervix uteri hypoplasia hypoplastic neck of uterus hypoplastic neck of womb neck of uterus hypoplasia MPheno.ontology MP:0009227 uterine cervix hypoplasia MP:0009227 decrease in the number of normal cells in normal arrangement in the uterine cervix, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in the cervix cervical inflammation cervicitis cervix inflammation canalis cervicis uteri inflammation caudal segment of uterus inflammation cervical canal inflammation cervical canal of uterus inflammation cervix uteri inflammation neck of uterus inflammation MPheno.ontology MP:0009228 uterine cervix inflammation MP:0009228 local accumulation of fluid, plasma proteins, and leukocytes in the cervix https://orcid.org/0000-0002-6490-7723 any structural anomaly of the raised area at the infundibular region of the neurohypophysis where the secretions of the hypothalamic neurons (releasing and inhibiting regulatory hormones) collect before entering the capillary network of hypophyseal portal system abnormal eminentia mediana hypothalami morphology abnormal median eminence morphology abnormal median eminence of hypothalamus morphology abnormal median eminence of posterior lobe of pituitary gland morphology abnormal median eminence of tuber cinereum morphology MPheno.ontology abnormal medial eminence morphology MP:0009229 abnormal neurohypophysis median eminence morphology MP:0009229 any structural anomaly of the raised area at the infundibular region of the neurohypophysis where the secretions of the hypothalamic neurons (releasing and inhibiting regulatory hormones) collect before entering the capillary network of hypophyseal portal system MESH:A06.688.357.500 any structural anomaly of the head segment of the sperm cell which contains the nucleus with densely coiled chromatin fibers, and is surrounded anteriorly by the acrosome which contains enzymes used for penetrating the female egg sperm head defects MPheno.ontology MP:0009230 abnormal sperm head morphology MP:0009230 any structural anomaly of the head segment of the sperm cell which contains the nucleus with densely coiled chromatin fibers, and is surrounded anteriorly by the acrosome which contains enzymes used for penetrating the female egg https://orcid.org/0000-0002-6490-7723 detachment or loss of adhesion of the acrosome cap from the sperm head nucleus detached acrosomal granule detached acrosomal vesicle MPheno.ontology MP:0009231 detached acrosome MP:0009231 detachment or loss of adhesion of the acrosome cap from the sperm head nucleus https://orcid.org/0000-0002-6490-7723 any structural anomaly of the sperm head nucleus, including an abnormal nuclear shape or defects in the compaction of nuclear chromatin MPheno.ontology MP:0009232 abnormal sperm nucleus morphology MP:0009232 any structural anomaly of the sperm head nucleus, including an abnormal nuclear shape or defects in the compaction of nuclear chromatin https://orcid.org/0000-0002-6490-7723 increased size of the head segment of the sperm cell enlarged sperm heads increased sperm head size large sperm head large sperm heads large-headed sperm macrocephalic sperm macrocephalous sperm megacephalic sperm sperm macrocephaly sperm megacephaly MPheno.ontology MP:0009233 enlarged sperm head MP:0009233 increased size of the head segment of the sperm cell https://orcid.org/0000-0002-6490-7723 macrocephalous sperm https://www.intechopen.com/chapters/57404 absence of the head segment of the sperm cell absent sperm heads acephalic sperm decapitated spermatozoa headless sperm sperm acephaly MPheno.ontology MP:0009234 absent sperm head MP:0009234 absence of the head segment of the sperm cell https://orcid.org/0000-0002-6490-7723 reduced size of the head segment of the sperm cell decreased sperm head size microcephalic sperm microcephalous sperm reduced sperm head size small sperm heads small-headed sperm sperm microcephaly MPheno.ontology MP:0009235 small sperm head MP:0009235 reduced size of the head segment of the sperm cell https://orcid.org/0000-0002-6490-7723 a sperm head that is unusually oblong in shape and much smaller than normal; typically, pinhead sperm result when the centrioles from which the sperm tails develop are not correctly aligned opposite the developing acrosome so that sperm heads are lost and absorbed during epididymal transit pin-head sperm MPheno.ontology MP:0009236 pinhead sperm MP:0009236 a sperm head that is unusually oblong in shape and much smaller than normal; typically, pinhead sperm result when the centrioles from which the sperm tails develop are not correctly aligned opposite the developing acrosome so that sperm heads are lost and absorbed during epididymal transit https://orcid.org/0000-0002-6490-7723 a sharp bend or zigzag in the sperm tail sharp sperm flagellar bending sharply bent sperm tail sperm flagellar angularity sperm flagellar angulation MPheno.ontology MP:0009237 kinked sperm flagellum MP:0009237 a sharp bend or zigzag in the sperm tail https://orcid.org/0000-0002-6490-7723 abnormal twisting of the sperm flagellum into coils or spirals coiled sperm tail curly sperm tail MPheno.ontology MP:0009238 coiled sperm flagellum MP:0009238 abnormal twisting of the sperm flagellum into coils or spirals https://orcid.org/0000-0002-6490-7723 decreased length of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility decreased sperm flagellum length short sperm tail truncated sperm flagellum MPheno.ontology MP:0009239 short sperm flagellum MP:0009239 decreased length of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility https://orcid.org/0000-0002-6490-7723 increased length of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility increased sperm flagellum length long sperm flagellum long sperm tail MPheno.ontology MP:0009240 elongated sperm flagellum MP:0009240 increased length of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility https://orcid.org/0000-0002-6490-7723 increased distance across the short axis of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility thick sperm tail MPheno.ontology MP:0009241 thick sperm flagellum MP:0009241 increased distance across the short axis of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility https://orcid.org/0000-0002-6490-7723 reduced distance across the short axis of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility thin sperm tail MPheno.ontology MP:0009242 thin sperm flagellum MP:0009242 reduced distance across the short axis of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility https://orcid.org/0000-0002-6490-7723 a structural alteration where the sperm flagellum becomes bent back (folded) on itself to form a hairpin (loop) structure; a sharp hairpin-like bend formation can disrupt the axial structures and cause the sperm tail to become kinked abnormal hairpin-fold of the sperm flagellum flagellar hairpin bends hairpin bent sperm tail hairpin-configuration spermatozoa hairpin-curved sperm hairpin-like sperm flagellum hairpin-shaped sperm MPheno.ontology MP:0009243 hairpin sperm flagellum MP:0009243 a structural alteration where the sperm flagellum becomes bent back (folded) on itself to form a hairpin (loop) structure; a sharp hairpin-like bend formation can disrupt the axial structures and cause the sperm tail to become kinked https://orcid.org/0000-0002-6490-7723 change in the measured amplitude, current density or duration of response to stimulation of acid-activated cation-mediated receptors MPheno.ontology MP:0009244 abnormal acid-activated cation-mediated receptor currents MP:0009244 change in the measured amplitude, current density or duration of response to stimulation of acid-activated cation-mediated receptors https://orcid.org/0000-0003-3691-0324 congenitial fissure of the vertebral column at the caudal end of the body MPheno.ontology MP:0009245 caudal rachischisis MP:0009245 congenitial fissure of the vertebral column at the caudal end of the body MGI:llw2 spleen lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition MPheno.ontology MP:0009246 pale spleen MP:0009246 spleen lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition https://orcid.org/0000-0002-6490-7723 condition in which excess gas accumulates in the gastrointestinal tract or peritoneal cavity, often resulting in abdominal distention, excess flatulence and/or belching MP:0009513 bloating gastrointestinal bloating tympania tympanism tympanites MPheno.ontology MP:0009247 meteorism MP:0009247 condition in which excess gas accumulates in the gastrointestinal tract or peritoneal cavity, often resulting in abdominal distention, excess flatulence and/or belching https://orcid.org/0000-0003-3691-0324 decrease in the average size of the head of the epididymis decreased caput epididymis size reduced caput MPheno.ontology MP:0009248 small caput epididymis MP:0009248 decrease in the average size of the head of the epididymis https://orcid.org/0000-0002-6490-7723 increase in the average size of the head of the epididymis increased caput epididymis size MPheno.ontology MP:0009249 enlarged caput epididymis MP:0009249 increase in the average size of the head of the epididymis https://orcid.org/0000-0002-6490-7723 any structural anomaly of the bones of the limbs, shoulder and pelvic girdles appendicular skeleton dysplasia MPheno.ontology MP:0009250 abnormal appendicular skeleton morphology MP:0009250 any structural anomaly of the bones of the limbs, shoulder and pelvic girdles ISBN:0-683-40008-8 increase in the average size of the simple or branched tubular glands located in the mucous membrane of the uterus enlarged glandulae uterinae enlarged uterine glands increased endometrial gland size MPheno.ontology MP:0009251 enlarged endometrial glands MP:0009251 increase in the average size of the simple or branched tubular glands located in the mucous membrane of the uterus https://orcid.org/0000-0002-6490-7723 absence of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys absent cystis urinaria absent urocyst absent urocystis absent vesica urinaria MPheno.ontology MP:0009252 absent urinary bladder MP:0009252 absence of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys https://orcid.org/0000-0002-6490-7723 any functional anomaly of any of the neurons of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations MPheno.ontology MP:0009253 abnormal sympathetic neuron physiology MP:0009253 any functional anomaly of any of the neurons of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations https://orcid.org/0000-0003-3691-0324 derangement of the normal pattern of the hormone-producing cells within an islet; normally, the beta cells occupy the central portion of the islet and are surrounded by a corona of alpha and delta cells disorganised pancreatic islets MPheno.ontology MP:0009254 disorganized pancreatic islets MP:0009254 derangement of the normal pattern of the hormone-producing cells within an islet; normally, the beta cells occupy the central portion of the islet and are surrounded by a corona of alpha and delta cells https://orcid.org/0000-0003-3691-0324 insulin-secreting cells of the pancreas do not contain vesicles containing insulin MPheno.ontology MP:0009255 degranulated pancreatic beta cells MP:0009255 insulin-secreting cells of the pancreas do not contain vesicles containing insulin MGI:acv increase in the average size of the body of the epididymis increased corpus epididymis size MPheno.ontology MP:0009256 enlarged corpus epididymis MP:0009256 increase in the average size of the body of the epididymis https://orcid.org/0000-0002-6490-7723 the luminal space of one or more of the seminiferous tubules is increased in volume or area, usually with an increase in contained fluid dilated seminiferous tubules seminiferous tubule dilation MPheno.ontology MP:0009257 dilated seminiferous tubule MP:0009257 the luminal space of one or more of the seminiferous tubules is increased in volume or area, usually with an increase in contained fluid https://orcid.org/0000-0003-3691-0324 change in the timing or the number of immature T cells located in the thymus that are undergoing programmed cell death MPheno.ontology MP:0009258 Note that a thymocyte is an immature T cell located in the thymus (CL:0000893). abnormal thymocyte apoptosis MP:0009258 change in the timing or the number of immature T cells located in the thymus that are undergoing programmed cell death CL:0000893 any structural anomaly of the saccular portion of the utriculosaccular duct that normally extends from the sacculus to the endolymphatic duct abnormal saccular duct abnormal saccule duct morphology MPheno.ontology MP:0009259 abnormal vestibular saccule duct morphology MP:0009259 any structural anomaly of the saccular portion of the utriculosaccular duct that normally extends from the sacculus to the endolymphatic duct ISBN:0-683-40008-8 any structural anomaly of the utricular portion of the utriculosaccular duct that normally extends from the utriculus to the endolymphatic duct abnormal utricular duct MPheno.ontology MP:0009260 abnormal utricle duct morphology MP:0009260 any structural anomaly of the utricular portion of the utriculosaccular duct that normally extends from the utriculus to the endolymphatic duct ISBN:0-683-40008-8 any structural anomaly of the utriculo-endolymphatic (UE) valve which is located in the antero-inferior wall of the utricle at the orifice of the utricular duct and serves to regulate endolymph volume in the endolymphatic sac, the utricle and the canals abnormal Bast's valve morphology abnormal ultriculo-endolymphatic (UE) valve morphology abnormal utricular valve morphology MPheno.ontology MP:0009261 abnormal utricle valve morphology MP:0009261 any structural anomaly of the utriculo-endolymphatic (UE) valve which is located in the antero-inferior wall of the utricle at the orifice of the utricular duct and serves to regulate endolymph volume in the endolymphatic sac, the utricle and the canals PMID:1238493 absence of the spherical enlargement at the base of each semicircular canal where they connect with the utricle, containing the crista ampullaris which detects movement of the fluid within the canals absent abnormal membranous ampullae of the semicircular ducts MPheno.ontology MP:0009262 absent semicircular canal ampulla MP:0009262 absence of the spherical enlargement at the base of each semicircular canal where they connect with the utricle, containing the crista ampullaris which detects movement of the fluid within the canals ISBN:0-683-40008-8 anomaly in the process by which the upper and lower eyelids are joined during development abnormal blephara fusion abnormal blepharon fusion abnormal eye lid fusion abnormal palpebra fusion abnormal palpenrae fusion MPheno.ontology MP:0009263 In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later (P8-12). abnormal eyelid fusion MP:0009263 anomaly in the process by which the upper and lower eyelids are joined during development https://orcid.org/0000-0003-4606-0597 the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye do not fuse together during development; normally fused by E17 in the mouse failure of blepharon fusion failure of eye lid fusion failure of palpebral fusion MPheno.ontology MP:0009264 In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later (P8-12). failure of eyelid fusion MP:0009264 the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye do not fuse together during development; normally fused by E17 in the mouse MGI:llw2 later than average time of the joining of the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye delayed blepharon fusion delayed eye lid fusion delayed palpebral fusion MPheno.ontology MP:0009265 In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later (P8-12). delayed eyelid fusion MP:0009265 later than average time of the joining of the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye https://orcid.org/0000-0003-4606-0597 failure or abnormality in the formation of the embryonic cell layer that gives rise to both the endoderm and mesoderm abnormal endomesoderm development MPheno.ontology MP:0009266 abnormal mesendoderm development MP:0009266 failure or abnormality in the formation of the embryonic cell layer that gives rise to both the endoderm and mesoderm https://orcid.org/0000-0003-4606-0597 any structural anomaly of the deep furrows which divide the lobules of the cerebellum, including the postcentral, primary and secondary furrows abnormal cerebellar fissure morphology MPheno.ontology MP:0009267 abnormal cerebellum fissure morphology MP:0009267 any structural anomaly of the deep furrows which divide the lobules of the cerebellum, including the postcentral, primary and secondary furrows ISBN:0-683-40008-8 absence of the deep furrows which divide the lobules of the cerebellum, including the postcentral, primary and secondary furrows absent cerebellar fissure MPheno.ontology MP:0009268 absent cerebellum fissure MP:0009268 absence of the deep furrows which divide the lobules of the cerebellum, including the postcentral, primary and secondary furrows ISBN:0-683-40008-8 reduction in the size of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals decreased adipocyte size decreased lipocyte size reduced fat cell size MPheno.ontology MP:0009269 decreased fat cell size MP:0009269 reduction in the size of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals CL:0000449 anomaly in the length of the long, straight truncal hairs that contain two air cells in the medulla MPheno.ontology MP:0009270 abnormal guard hair length MP:0009270 anomaly in the length of the long, straight truncal hairs that contain two air cells in the medulla ISBN:0-8493-8372-2 MGI:llw2 increase in the length of the long, straight truncal hairs that contain two air cells in the medulla MPheno.ontology MP:0009271 increased guard hair length MP:0009271 increase in the length of the long, straight truncal hairs that contain two air cells in the medulla ISBN:0-8493-8372-2 reduction in the length of the long, straight truncal hairs that contain two air cells in the medulla reduced guard hair length MPheno.ontology MP:0009272 decreased guard hair length MP:0009272 reduction in the length of the long, straight truncal hairs that contain two air cells in the medulla ISBN:0-8493-8372-2 the form of pigment polymers in the hair shaft differs compared to controls MPheno.ontology MP:0009273 abnormal hair shaft melanin granule shape MP:0009273 the form of pigment polymers in the hair shaft differs compared to controls MGI:llw2 abnormal enlargement of the eye that is usually congenital and attended by symptoms of glaucoma MPheno.ontology MP:0009274 buphthalmos MP:0009274 abnormal enlargement of the eye that is usually congenital and attended by symptoms of glaucoma https://orcid.org/0000-0002-6490-7723 an injury to biological tissue in which the capillaries are damaged, allowing blood to seep into the surrounding tissue; it should not be confused with ecchymosis, though the terms are related bruise bruises contusion MPheno.ontology MP:0009275 bruising MP:0009275 an injury to biological tissue in which the capillaries are damaged, allowing blood to seep into the surrounding tissue; it should not be confused with ecchymosis, though the terms are related https://orcid.org/0000-0002-6490-7723 an ecchymosis is a spot caused by loss of blood from a vessel; it implies a larger size than a petechiae, and has a more diffuse border than purpura; an ecchymosis can be caused by a bruise (which implies trauma), but can also be caused by bleeding diathesis MPheno.ontology MP:0009276 ecchymosis MP:0009276 an ecchymosis is a spot caused by loss of blood from a vessel; it implies a larger size than a petechiae, and has a more diffuse border than purpura; an ecchymosis can be caused by a bruise (which implies trauma), but can also be caused by bleeding diathesis https://orcid.org/0000-0002-6490-7723 greater than the expected number of abnormal rapidly proliferating cells in the brain, usually in the form of a distinct mass, occurring in a specific population in a given time period increased brain tumour incidence MPheno.ontology brain tumor brain tumour MP:0009277 increased brain tumor incidence MP:0009277 greater than the expected number of abnormal rapidly proliferating cells in the brain, usually in the form of a distinct mass, occurring in a specific population in a given time period https://orcid.org/0000-0003-0431-8641 any functional anomaly of any of the cells found in the bone marrow MPheno.ontology MP:0009278 abnormal bone marrow cell physiology MP:0009278 any functional anomaly of any of the cells found in the bone marrow https://orcid.org/0000-0003-1980-3228 any anomaly in the type of sperm mobility that is observed in freshly ejaculated sperm and is thought to help propel the sperm through the female reproductive tract to the oviduct; normally, the flagellum of an activated sperm generates a symmetrical, lower amplitude waveform that drives the sperm in a relatively straight line MPheno.ontology MP:0009279 abnormal activated sperm motility MP:0009279 any anomaly in the type of sperm mobility that is observed in freshly ejaculated sperm and is thought to help propel the sperm through the female reproductive tract to the oviduct; normally, the flagellum of an activated sperm generates a symmetrical, lower amplitude waveform that drives the sperm in a relatively straight line https://orcid.org/0000-0002-6490-7723 loss or reduction of the activated type of sperm mobility, resulting in immotile sperm that are generally unable to reach the uterotubal junction; decreases in activated sperm motility may result in reduced male fertility impaired activated sperm motility reduced activated sperm motility MPheno.ontology MP:0009280 decreased activated sperm motility MP:0009280 loss or reduction of the activated type of sperm mobility, resulting in immotile sperm that are generally unable to reach the uterotubal junction; decreases in activated sperm motility may result in reduced male fertility https://orcid.org/0000-0002-6490-7723 any anomaly in the type of sperm motility that is observed in most sperm recovered from the site of fertilization and is thought to help sperm detach from the oviductal epithelium, reach the site of fertilization, and penetrate the cumulus and zona pellucida of the oocyte; normally, once sperm from most species become hyperactivated, the flagellar beat becomes asymmetrical and higher amplitude, resulting in circular or figure-eight trajectories MPheno.ontology MP:0009281 abnormal hyperactivated sperm motility MP:0009281 any anomaly in the type of sperm motility that is observed in most sperm recovered from the site of fertilization and is thought to help sperm detach from the oviductal epithelium, reach the site of fertilization, and penetrate the cumulus and zona pellucida of the oocyte; normally, once sperm from most species become hyperactivated, the flagellar beat becomes asymmetrical and higher amplitude, resulting in circular or figure-eight trajectories https://orcid.org/0000-0002-6490-7723 loss or reduction of the hyperactivated type of sperm mobility, impairing the ability of sperm to reach the site of fertilization and to penetrate the oocyte vestments; a block in hyperactivated motility may also impair the ability of a sperm to fertilize an oocyte in vitro impaired hyperactivated sperm motility reduced hyperactivated sperm motility MPheno.ontology MP:0009282 decreased hyperactivated sperm motility MP:0009282 loss or reduction of the hyperactivated type of sperm mobility, impairing the ability of sperm to reach the site of fertilization and to penetrate the oocyte vestments; a block in hyperactivated motility may also impair the ability of a sperm to fertilize an oocyte in vitro https://orcid.org/0000-0002-6490-7723 less than average weight of the encapsulated adipose tissue associated with the ovaries or testes decreased perigonadal fat pad weight reduced gonadal fat depot decreased epigonadal fat pad weight MPheno.ontology MP:0009283 decreased gonadal fat pad weight MP:0009283 less than average weight of the encapsulated adipose tissue associated with the ovaries or testes https://orcid.org/0000-0002-6490-7723 decreased epigonadal fat pad weight PMID:33148396 PMID:34390703 any changes in the placement, morphology or number of nerve fibers to sympathetic termini MPheno.ontology MP:0009284 abnormal sympathetic neuron innervation pattern MP:0009284 any changes in the placement, morphology or number of nerve fibers to sympathetic termini https://orcid.org/0000-0003-3691-0324 greater than average weight of the encapsulated adipose tissue associated with the ovaries or testes increased gonadal fat depot weight increased perigonadal fat pad weight increased epigonadal fat pad weight MPheno.ontology MP:0009285 increased gonadal fat pad weight MP:0009285 greater than average weight of the encapsulated adipose tissue associated with the ovaries or testes https://orcid.org/0000-0003-3691-0324 increased epigonadal fat pad weight PMID:33148396 PMID:34390703 greater than average weight of the encapsulated adipose tissue in the abdomen increased abdominal fat depot weight MPheno.ontology MP:0009286 increased abdominal fat pad weight MP:0009286 greater than average weight of the encapsulated adipose tissue in the abdomen https://orcid.org/0000-0003-3691-0324 less than average weight of the encapsulated adipose tissue in the abdomen decreased abdominal fat depot weight reduced abdominal fat depot weight reduced abdominal fat pad weight MPheno.ontology MP:0009287 decreased abdominal fat pad weight MP:0009287 less than average weight of the encapsulated adipose tissue in the abdomen https://orcid.org/0000-0003-3691-0324 greater than average weight of the encapsulated adipose tissue associated with the epididymis increased epididymal fat depot weight increased periepididymal fat pad weight MPheno.ontology MP:0009288 increased epididymal fat pad weight MP:0009288 greater than average weight of the encapsulated adipose tissue associated with the epididymis https://orcid.org/0000-0003-3691-0324 less than average weight of the encapsulated adipose tissue associated with the epididymis decreased epididymal fat depot weight decreased periepididymal fat pad weight reduced epididymal fat depot weight reduced epididymal fat pad weight MPheno.ontology reduced periepididymal fat pad weight MP:0009289 decreased epididymal fat pad weight MP:0009289 less than average weight of the encapsulated adipose tissue associated with the epididymis https://orcid.org/0000-0003-3691-0324 greater than average weight of the encapsulated adipose tissue associated with the femur increased femoral fat depot weight MPheno.ontology MP:0009290 increased femoral fat pad weight MP:0009290 greater than average weight of the encapsulated adipose tissue associated with the femur https://orcid.org/0000-0003-3691-0324 less than average weight of the encapsulated adipose tissue associated with the femur decreased femoral fat depot weight reduced femoral fat depot weight reduced femoral fat pad weight MPheno.ontology MP:0009291 decreased femoral fat pad weight MP:0009291 less than average weight of the encapsulated adipose tissue associated with the femur https://orcid.org/0000-0003-3691-0324 greater than average weight of the encapsulated adipose tissue found in the groin increased inguinal fat depot weight MPheno.ontology MP:0009292 increased inguinal fat pad weight MP:0009292 greater than average weight of the encapsulated adipose tissue found in the groin https://orcid.org/0000-0003-3691-0324 less than average weight of the encapsulated adipose tissue found in the groin decreased inguinal fat depot weight reduced inguinal fat depot weight reduced inguinal fat pad weight MPheno.ontology MP:0009293 decreased inguinal fat pad weight MP:0009293 less than average weight of the encapsulated adipose tissue found in the groin https://orcid.org/0000-0003-3691-0324 greater than average weight of the encapsulated adipose tissue located between the scapulae increased interscapular fat depot weight MPheno.ontology MP:0009294 increased interscapular fat pad weight MP:0009294 greater than average weight of the encapsulated adipose tissue located between the scapulae https://orcid.org/0000-0003-3691-0324 less than average weight of the encapsulated adipose tissue located between the scapulae decreased interscapular fat depot weight reduced interscapular fat depot weight reduced interscapular fat pad weight MPheno.ontology MP:0009295 decreased interscapular fat pad weight MP:0009295 less than average weight of the encapsulated adipose tissue located between the scapulae https://orcid.org/0000-0003-3691-0324 greater than average weight of the encapsulated adipose tissue associated with the mammary gland increased mammary fat depot weight MPheno.ontology MP:0009296 increased mammary fat pad weight MP:0009296 greater than average weight of the encapsulated adipose tissue associated with the mammary gland https://orcid.org/0000-0003-3691-0324 less than average weight of the encapsulated adipose tissue associated with the mammary gland decreased mammary fat depot weight reduced mammary fat depot weight reduced mammary fat pad weight MPheno.ontology MP:0009297 decreased mammary fat pad weight MP:0009297 less than average weight of the encapsulated adipose tissue associated with the mammary gland https://orcid.org/0000-0003-3691-0324 greater than average weight of the encapsulated adipose tissue associated with the mesentery increased mesenteric fat depot weight MPheno.ontology MP:0009298 increased mesenteric fat pad weight MP:0009298 greater than average weight of the encapsulated adipose tissue associated with the mesentery https://orcid.org/0000-0003-3691-0324 less than average weight of the encapsulated adipose tissue associated with the mesentery decreased mesenteric fat depot weight reduced mesenteric fat depot weight reduced mesenteric fat pad weight MPheno.ontology MP:0009299 decreased mesenteric fat pad weight MP:0009299 less than average weight of the encapsulated adipose tissue associated with the mesentery https://orcid.org/0000-0003-3691-0324 greater than average weight of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament increased parametrial fat depot weight MPheno.ontology MP:0009300 increased parametrial fat pad weight MP:0009300 greater than average weight of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament https://orcid.org/0000-0003-3691-0324 less than average weight of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament decreased parametrial fat depot weight reduced parametrial fat depot weight reduced parametrial fat pad weight MPheno.ontology MP:0009301 decreased parametrial fat pad weight MP:0009301 less than average weight of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament https://orcid.org/0000-0003-3691-0324 greater than average weight of the encapsulated adipose tissue associated with the kidney increased renal fat depot weight MPheno.ontology MP:0009302 increased renal fat pad weight MP:0009302 greater than average weight of the encapsulated adipose tissue associated with the kidney https://orcid.org/0000-0003-3691-0324 less than average weight of the encapsulated adipose tissue associated with the kidney decreased renal fat depot weight reduced renal fat depot weight reduced renal fat pad weight MPheno.ontology MP:0009303 decreased renal fat pad weight MP:0009303 less than average weight of the encapsulated adipose tissue associated with the kidney https://orcid.org/0000-0003-3691-0324 greater than average weight of the encapsulated adipose tissue found on the dorsal side of the peritoneum increased retroperitoneal fat depot weight MPheno.ontology MP:0009304 increased retroperitoneal fat pad weight MP:0009304 greater than average weight of the encapsulated adipose tissue found on the dorsal side of the peritoneum https://orcid.org/0000-0003-3691-0324 less than average weight of the encapsulated adipose tissue found on the dorsal side of the peritoneum decreased retroperitoneal fat depot weight reduced retroperitoneal fat depot weight reduced retroperitoneal fat pad weight MPheno.ontology MP:0009305 decreased retroperitoneal fat pad weight MP:0009305 less than average weight of the encapsulated adipose tissue found on the dorsal side of the peritoneum https://orcid.org/0000-0003-3691-0324 greater than average weight of the encapsulated adipose tissue associated with the uterus increased uterine fat depot weight MPheno.ontology MP:0009306 increased uterine fat pad weight MP:0009306 greater than average weight of the encapsulated adipose tissue associated with the uterus https://orcid.org/0000-0003-3691-0324 less than average weight of the encapsulated adipose tissue associated with the uterus decreased uterine fat depot weight reduced uterine fat depot weight reduced uterine fat pad weight MPheno.ontology MP:0009307 decreased uterine fat pad weight MP:0009307 less than average weight of the encapsulated adipose tissue associated with the uterus https://orcid.org/0000-0003-3691-0324 higher than normal incidence of a malignant neoplasm of epithelial cells in a glandular or glandular-like pattern glandular cancer glandular carcinoma MPheno.ontology adenocarcinoma MP:0009308 increased adenocarcinoma incidence MP:0009308 higher than normal incidence of a malignant neoplasm of epithelial cells in a glandular or glandular-like pattern ISBN:0-683-40008-8 higher than normal incidence of a malignant neoplasm of epithelial cells in the small intestine MPheno.ontology small intestinal adenocarcinoma small intestine adenocarcinoma MP:0009309 increased small intestine adenocarcinoma incidence MP:0009309 higher than normal incidence of a malignant neoplasm of epithelial cells in the small intestine https://orcid.org/0000-0002-6490-7723 higher than normal incidence of a malignant neoplasm of epithelial cells in the large intestine MPheno.ontology large intestinal adenocarcinoma large intestine adenocarcinoma MP:0009310 increased large intestine adenocarcinoma incidence MP:0009310 higher than normal incidence of a malignant neoplasm of epithelial cells in the large intestine https://orcid.org/0000-0002-6490-7723 higher than normal incidence of a malignant neoplasm of epithelial cells in the duodenum MPheno.ontology duodenal adenocarcinoma duodenum adenocarcinoma MP:0009311 increased duodenum adenocarcinoma incidence MP:0009311 higher than normal incidence of a malignant neoplasm of epithelial cells in the duodenum https://orcid.org/0000-0002-6490-7723 higher than normal incidence of a malignant neoplasm of epithelial cells in the jejunum MPheno.ontology jejunum adenocarcinoma MP:0009312 increased jejunum adenocarcinoma incidence MP:0009312 higher than normal incidence of a malignant neoplasm of epithelial cells in the jejunum https://orcid.org/0000-0002-6490-7723 higher than normal incidence of a malignant neoplasm of epithelial cells in the cecum MPheno.ontology cecum adenocarcinoma MP:0009313 increased cecum adenocarcinoma incidence MP:0009313 higher than normal incidence of a malignant neoplasm of epithelial cells in the cecum https://orcid.org/0000-0002-6490-7723 higher than normal incidence of a malignant neoplasm of epithelial cells in the colon MPheno.ontology colon adenocarcinoma colonic adenocarcinoma MP:0009314 increased colon adenocarcinoma incidence MP:0009314 higher than normal incidence of a malignant neoplasm of epithelial cells in the colon https://orcid.org/0000-0002-6490-7723 higher than normal incidence of a malignant neoplasm of epithelial cells in the rectum MPheno.ontology rectal adenocarcinoma rectum adenocarcinoma MP:0009315 increased rectum adenocarcinoma incidence MP:0009315 higher than normal incidence of a malignant neoplasm of epithelial cells in the rectum https://orcid.org/0000-0002-6490-7723 higher than normal incidence of a malignant neoplasm of epithelial cells in the anal canal MPheno.ontology anal adenocarcinoma anal canal adenocarcinoma MP:0009316 increased anal adenocarcinoma incidence MP:0009316 higher than normal incidence of a malignant neoplasm of epithelial cells in the anal canal https://orcid.org/0000-0002-6490-7723 higher than normal incidence of malignant lymphoma arising from lymphoid follicular B cells which may be small or large MPheno.ontology follicular lymphoma giant follicular lymphoblastoma nodular lymphoma MP:0009317 increased follicular lymphoma incidence MP:0009317 higher than normal incidence of malignant lymphoma arising from lymphoid follicular B cells which may be small or large ISBN:0-683-40008-8 higher than normal incidence of neoplasms arising from the B cell-rich zones of the spleen MPheno.ontology splenic marginal zone lymphoma MP:0009318 increased splenic marginal zone lymphoma incidence MP:0009318 higher than normal incidence of neoplasms arising from the B cell-rich zones of the spleen ISBN:0-683-40008-8 higher than normal incidence of lymphocytic leukemia where the lymphocytes are not increased in the peripheral blood, but lymph nodes are enlarged and other lymphoid tissue or bone marrow is infiltrated by small lymphocytes MPheno.ontology small lymphocytic lymphoma well-differentiated lymphocytic lymphoma MP:0009319 increased small lymphocytic lymphoma incidence MP:0009319 higher than normal incidence of lymphocytic leukemia where the lymphocytes are not increased in the peripheral blood, but lymph nodes are enlarged and other lymphoid tissue or bone marrow is infiltrated by small lymphocytes ISBN:0-683-40008-8 higher than normal incidence of diffuse lymphoma with supradiaphragmatic distribution and T lymphocytes having convoluted nuclei MPheno.ontology lymphoblastic lymphoma lymphoblastoma MP:0009320 increased lymphoblastic lymphoma incidence MP:0009320 higher than normal incidence of diffuse lymphoma with supradiaphragmatic distribution and T lymphocytes having convoluted nuclei ISBN:0-683-40008-8 greater than the expected number of malignant tumors derived from histiocytes in a given population in a given time period MPheno.ontology MP:0009321 increased histiocytic sarcoma incidence MP:0009321 greater than the expected number of malignant tumors derived from histiocytes in a given population in a given time period https://orcid.org/0000-0003-3691-0324 increase in the number of spleen cells undergoing programmed cell death increased spleen cell apoptosis MPheno.ontology MP:0009322 increased splenocyte apoptosis MP:0009322 increase in the number of spleen cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 aberrant formation or incomplete differentiation of the organ that filters blood and stores red corpuscles and platelets abnormal spleen formation abnormal spleen organogenesis abnormal splenic development spleen dysgenesis splenic dysgenesis MPheno.ontology MP:0009323 abnormal spleen development MP:0009323 aberrant formation or incomplete differentiation of the organ that filters blood and stores red corpuscles and platelets https://orcid.org/0000-0002-6490-7723 absence of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which eventually thickens to form the fornix and fibers of the hippocampal commissure MPheno.ontology MP:0009324 absent hippocampal fimbria MP:0009324 absence of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which eventually thickens to form the fornix and fibers of the hippocampal commissure ISBN:0-683-40008-8 MESH:A08.186.211.464.265 https://orcid.org/0000-0002-6490-7723 condition in which spermatozoa in seminal fluid are dead or motionless necrozoospermia MPheno.ontology MP:0009325 necrospermia MP:0009325 condition in which spermatozoa in seminal fluid are dead or motionless MGI:llw2 females do not assume a position over young that facilitates suckling behavior absent nursing posture MPheno.ontology MP:0009326 absent maternal crouching MP:0009326 females do not assume a position over young that facilitates suckling behavior MGI:llw2 females show an anomaly in eliciting the cleaning or tactile stimulus level necessary to initiate nursing by offspring MPheno.ontology MP:0009327 abnormal maternal grooming MP:0009327 females show an anomaly in eliciting the cleaning or tactile stimulus level necessary to initiate nursing by offspring MGI:llw2 late onset of the initiation and/or completion of looping of the primitive heart tube delayed cardiac looping MPheno.ontology MP:0009328 delayed heart looping MP:0009328 late onset of the initiation and/or completion of looping of the primitive heart tube https://orcid.org/0000-0002-6490-7723 any structural anomaly of the small depression in the primitive streak that is caudal to the primitive node where the cells of the epiblast initially begin to invaginate during early embryogenesis MPheno.ontology MP:0009329 abnormal primitive pit morphology MP:0009329 any structural anomaly of the small depression in the primitive streak that is caudal to the primitive node where the cells of the epiblast initially begin to invaginate during early embryogenesis https://orcid.org/0000-0003-3691-0324 any structural anomaly of the shallow valley that extends along the length of the primitive streak MPheno.ontology MP:0009330 abnormal primitive groove morphology MP:0009330 any structural anomaly of the shallow valley that extends along the length of the primitive streak https://orcid.org/0000-0003-3691-0324 absence of the regional thickening of cells at the rostral tip of the vertebrate primitive streak through which gastrulating cells migrate anteriorally to form tissues in the future head and neck; this region organizes the formation of the three embryonic layers and establishes the longitudinal axis and the polarity of the embryo absent embryonic node absent primitive knot absent prochordal knot MPheno.ontology absent Hensen's node absent Henson's node absent Spemann's organizer MP:0009331 absent primitive node MP:0009331 absence of the regional thickening of cells at the rostral tip of the vertebrate primitive streak through which gastrulating cells migrate anteriorally to form tissues in the future head and neck; this region organizes the formation of the three embryonic layers and establishes the longitudinal axis and the polarity of the embryo https://orcid.org/0000-0003-3691-0324 any structural anomaly of a cell of the spleen abnormal spleen cell morphology MPheno.ontology MP:0009332 Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. abnormal splenocyte morphology MP:0009332 any structural anomaly of a cell of the spleen https://orcid.org/0000-0003-3691-0324 any functional anomaly of a cell of the spleen abnormal spleen cell physiology MPheno.ontology MP:0009333 Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. abnormal splenocyte physiology MP:0009333 any functional anomaly of a cell of the spleen https://orcid.org/0000-0003-3691-0324 anomaly in the ability of a splenocyte cell population to undergo expansion by cell division abnormal spleen cell proliferation MPheno.ontology MP:0009334 Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. abnormal splenocyte proliferation MP:0009334 anomaly in the ability of a splenocyte cell population to undergo expansion by cell division https://orcid.org/0000-0003-3691-0324 reduction in the expansion rate of a splenocyte cell population by cell division decreased spleen cell proliferation reduced spleen cell proliferation reduced splenocyte proliferation MPheno.ontology MP:0009335 Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. decreased splenocyte proliferation MP:0009335 reduction in the expansion rate of a splenocyte cell population by cell division https://orcid.org/0000-0003-3691-0324 increase in the expansion rate of a splenocyte cell population by cell division increased spleen cell proliferation MPheno.ontology MP:0009336 Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. increased splenocyte proliferation MP:0009336 increase in the expansion rate of a splenocyte cell population by cell division https://orcid.org/0000-0003-3691-0324 deviation from the expected number of cells of the spleen abnormal spleen cell number MPheno.ontology MP:0009337 Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. abnormal splenocyte number MP:0009337 deviation from the expected number of cells of the spleen https://orcid.org/0000-0003-3691-0324 increase in the expected number of cells of the spleen increased spleen cell number MPheno.ontology MP:0009338 Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. increased splenocyte number MP:0009338 increase in the expected number of cells of the spleen https://orcid.org/0000-0003-3691-0324 reduction in the expected number of cells of the spleen decreased spleen cell number reduced spleen cell number reduced splenocyte number MPheno.ontology MP:0009339 Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. decreased splenocyte number MP:0009339 reduction in the expected number of cells of the spleen https://orcid.org/0000-0003-3691-0324 deviation in the number of spleen cells undergoing programmed cell death abnormal spleen cell apoptosis MPheno.ontology MP:0009340 Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. abnormal splenocyte apoptosis MP:0009340 deviation in the number of spleen cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 reduction in the number of spleen cells undergoing programmed cell death decreased spleen cell apoptosis reduced spleen cell apoptosis reduced splenocyte apoptosis MPheno.ontology MP:0009341 Splenocytes can be any one of the different white blood cell types in the spleen. Splenocyte is a vague term, but this name is seen many references as such and is not explained futher, necessitating a need for this terminology. decreased splenocyte apoptosis MP:0009341 reduction in the number of spleen cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 increased size of the gall bladder, the organ that serves as a storage reservoir for bile enlarged cholecyst enlarged gall bladder increased gallbladder size MPheno.ontology MP:0009342 enlarged gallbladder MP:0009342 increased size of the gall bladder, the organ that serves as a storage reservoir for bile https://orcid.org/0000-0002-6490-7723 abnormal distention of the gall bladder due to accumulation of fluid or bile cholecyst dilation dilated gall bladder dilated gall bladders dilated gallbladders distended gall bladder gall bladder dilation gallbladder dilation MPheno.ontology dilated cholecyst MP:0009343 dilated gallbladder MP:0009343 abnormal distention of the gall bladder due to accumulation of fluid or bile https://orcid.org/0000-0002-6490-7723 any anomaly in the type of sexual cycle seen in female mammals, with physiologic changes in the endometrium that recur at regular intervals during the reproductive years MPheno.ontology MP:0009344 abnormal ovulation cycle MP:0009344 any anomaly in the type of sexual cycle seen in female mammals, with physiologic changes in the endometrium that recur at regular intervals during the reproductive years GO:0042698 anomaly in the width of bone that has a lattice-like or spongy structure abnormal cancellous bone thickness abnormal spongy bone thickness abnormal spongy spongiosa thickness abnormal spongy substance thickness abnormal substantia trabecularis thickness MPheno.ontology MP:0009345 abnormal trabecular bone thickness MP:0009345 anomaly in the width of bone that has a lattice-like or spongy structure https://orcid.org/0000-0002-6490-7723 thinner than normal bone with a lattice-like or spongy structure decreased cancellous bone thickness decreased spongy bone thickness decreased spongy spongiosa thickness decreased spongy substance thickness decreased substantia trabecularis thickness reduced cancellous bone thickness reduced spongy bone thickness reduced spongy spongiosa thickness reduced spongy substance thickness reduced substantia trabecularis thickness MPheno.ontology MP:0009346 decreased trabecular bone thickness MP:0009346 thinner than normal bone with a lattice-like or spongy structure https://orcid.org/0000-0002-6490-7723 thicker than normal bone with a lattice-like or spongy structure increased cancellous bone thickness increased spongy bone thickness increased spongy spongiosa thickness increased spongy substance thickness increased substantia trabecularis thickness MPheno.ontology MP:0009347 increased trabecular bone thickness MP:0009347 thicker than normal bone with a lattice-like or spongy structure https://orcid.org/0000-0002-6490-7723 any anomaly in urinary pH, indicating alterations in urine acidity or alkalinity MPheno.ontology MP:0009348 abnormal urine pH MP:0009348 any anomaly in urinary pH, indicating alterations in urine acidity or alkalinity https://orcid.org/0000-0002-6490-7723 increased urine alkalinity alkaline urine MPheno.ontology MP:0009349 increased urine pH MP:0009349 increased urine alkalinity https://orcid.org/0000-0002-6490-7723 increased urine acidity acidic urine MPheno.ontology MP:0009350 decreased urine pH MP:0009350 increased urine acidity https://orcid.org/0000-0002-6490-7723 the average diameter of coat hair is less than the average diameter of hair from normal individuals MPheno.ontology MP:0009351 thin hair shaft MP:0009351 the average diameter of coat hair is less than the average diameter of hair from normal individuals MGI:llw2 in organisms which give birth to multiple offspring in one litter, blastocysts fail to implant at intervals conducive to the formation of a normal enveloping membrane or decidua for each conceptus from the epithelial tissue of the endometrium lining of the uterus MPheno.ontology MP:0009352 impaired spacing of implantation sites MP:0009352 in organisms which give birth to multiple offspring in one litter, blastocysts fail to implant at intervals conducive to the formation of a normal enveloping membrane or decidua for each conceptus from the epithelial tissue of the endometrium lining of the uterus MGI:llw2 two embryos share one decidual membrane MPheno.ontology MP:0009353 twin decidual capsule MP:0009353 two embryos share one decidual membrane MGI:llw2 a form of tetanic spasm in which the head and feet are drawn forward and the spine arches backward MPheno.ontology MP:0009354 emprosthotonos MP:0009354 a form of tetanic spasm in which the head and feet are drawn forward and the spine arches backward MGI:llw2 greater concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver increased hepatic triglyceride level MPheno.ontology MP:0009355 increased liver triglyceride level MP:0009355 greater concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver https://orcid.org/0000-0003-3691-0324 reduced concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liverower than normal concentration of triacylglycerols in the liver decreased hepatic triglyceride level reduced hepatic triglyceride level reduced liver triglyceride level MPheno.ontology MP:0009356 decreased liver triglyceride level MP:0009356 reduced concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liverower than normal concentration of triacylglycerols in the liver https://orcid.org/0000-0003-3691-0324 anomaly in the seizure activity response to an agent that normally can induce uncontrolled electrical activity in the brain, producing a physical convulsion and/or minor change in physical behavior induced seizures MPheno.ontology MP:0009357 abnormal seizure response to inducing agent MP:0009357 anomaly in the seizure activity response to an agent that normally can induce uncontrolled electrical activity in the brain, producing a physical convulsion and/or minor change in physical behavior MGI:llw2 seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage MPheno.ontology MP:0009358 environmentally induced seizures MP:0009358 seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage MGI:llw2 acquired diminution of the size of the uterine endometrium, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes endometrial atrophy MPheno.ontology MP:0009359 endometrium atrophy MP:0009359 acquired diminution of the size of the uterine endometrium, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 local accumulation of fluid, plasma proteins, and leukocytes in the endometrium endometrial inflammation endometritis MPheno.ontology MP:0009360 endometrium inflammation MP:0009360 local accumulation of fluid, plasma proteins, and leukocytes in the endometrium https://orcid.org/0000-0002-6490-7723 any structural anomaly in the ovarian follicle that is indiscernible to the naked eye and develops into to primary, secondary, and finally mature vesicular follicles MPheno.ontology MP:0009361 abnormal primordial ovarian follicle morphology MP:0009361 any structural anomaly in the ovarian follicle that is indiscernible to the naked eye and develops into to primary, secondary, and finally mature vesicular follicles UBERON:0003981 any structural anomaly in the ovarian follicle that is characterized by the presence of a single layer of granulosa cells abnormal folliculus ovaricus primarius morphology MPheno.ontology MP:0009362 abnormal primary ovarian follicle morphology MP:0009362 any structural anomaly in the ovarian follicle that is characterized by the presence of a single layer of granulosa cells UBERON:0000035 any structural anomaly in the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers abnormal Graafian follicle morphology abnormal antral follicle morphology abnormal folliculus ovaricus tertiarius morphology abnormal folliculus ovaricus vesiculosus morphology abnormal vesicular follicle of ovary morphology abnormal vesicular ovarian follicle morphology MPheno.ontology MP:0009363 abnormal tertiary ovarian follicle morphology MP:0009363 any structural anomaly in the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers UBERON:0000037 https://orcid.org/0000-0002-6490-7723 any structural anomaly in the ovarian follicle that is ready for ovulation and presents a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle MPheno.ontology MP:0009364 abnormal mature ovarian follicle morphology MP:0009364 any structural anomaly in the ovarian follicle that is ready for ovulation and presents a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle https://orcid.org/0000-0002-6490-7723 any structural anomaly in the envelope of condensed connective tissue surrounding an ovarian follicle starting at the secondary follicle stage; the theca folliculi are divided into two layers, an internal vascular layer (tunica interna) and an external fibrous layer (tunica externa) abnormal ovarian thecal cells abnormal theca folliculi morphology abnormal thecal layer morphology MPheno.ontology MP:0009365 abnormal theca cell layer morphology MP:0009365 any structural anomaly in the envelope of condensed connective tissue surrounding an ovarian follicle starting at the secondary follicle stage; the theca folliculi are divided into two layers, an internal vascular layer (tunica interna) and an external fibrous layer (tunica externa) https://orcid.org/0000-0002-6490-7723 any structural anomaly in the inner cellular and vascular layer of the theca of a secondary ovarian follicle; evidence indicates that the epithelioid cells produce androgens and contribute to the formation of the corpus luteum after ovulation abnormal internal thecal layer morphology abnormal theca interna abnormal tunica interna thecae folliculi MPheno.ontology MP:0009366 abnormal theca interna morphology MP:0009366 any structural anomaly in the inner cellular and vascular layer of the theca of a secondary ovarian follicle; evidence indicates that the epithelioid cells produce androgens and contribute to the formation of the corpus luteum after ovulation https://orcid.org/0000-0002-6490-7723 any structural anomaly in the external fibrous layer of the theca of a secondary ovarian follicle; the theca externa contains abundant collagen and is mainly supportive abnormal external thecal layer morphology abnormal theca externa abnormal tunica externa thecae folliculi MPheno.ontology MP:0009367 abnormal theca externa morphology MP:0009367 any structural anomaly in the external fibrous layer of the theca of a secondary ovarian follicle; the theca externa contains abundant collagen and is mainly supportive https://orcid.org/0000-0002-6490-7723 absence of the internal, external or both layers of the sheath of stroma surrounding a secondary ovarian follicle absent thecal layer formation MPheno.ontology MP:0009368 absent theca folliculi MP:0009368 absence of the internal, external or both layers of the sheath of stroma surrounding a secondary ovarian follicle https://orcid.org/0000-0002-6490-7723 abnormal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle abnormal thecal cell number MPheno.ontology MP:0009369 abnormal theca cell number MP:0009369 abnormal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle https://orcid.org/0000-0002-6490-7723 fewer than normal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle decreased number of thecal cells decreased thecal cell number reduced thecal cell number MPheno.ontology MP:0009370 decreased theca cell number MP:0009370 fewer than normal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle https://orcid.org/0000-0002-6490-7723 greater than normal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle increased number of theca cells increased number of thecal cells increased thecal cell number MPheno.ontology MP:0009371 increased theca cell number MP:0009371 greater than normal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle https://orcid.org/0000-0002-6490-7723 atypical formation of or inability to produce a mass of epithelial granulosa cells around the oocyte in the maturing Graafian follicle; the cumulus oophorus begins to expand dramatically when cumulus cells are induced to synthesize hyaluronic acid which aggregates in a viscous intercellular matrix abnormal cumulus oophorous abnormal cumulus ovaricus abnormal ovigerus abnormal proligerous disc abnormal proligerous membrane MPheno.ontology MP:0009372 abnormal cumulus oophorus morphology MP:0009372 atypical formation of or inability to produce a mass of epithelial granulosa cells around the oocyte in the maturing Graafian follicle; the cumulus oophorus begins to expand dramatically when cumulus cells are induced to synthesize hyaluronic acid which aggregates in a viscous intercellular matrix https://orcid.org/0000-0002-6490-7723 anomaly in the ability of the cumulus cells to synthesize and accumulate hyaluronan into an extracellular matrix (ECM), which provides an essential microenvironment for oocyte fertilization; this expanded ECM binds the oocyte and the cumulus cells together, protects the oocyte from the proteolytic and mechanical stresses during extrusion, and allows sperm binding, penetration, and fertilization abnormal ovarian cumulus expansion abnormal ovarian cumulus growth MPheno.ontology MP:0009373 abnormal cumulus expansion MP:0009373 anomaly in the ability of the cumulus cells to synthesize and accumulate hyaluronan into an extracellular matrix (ECM), which provides an essential microenvironment for oocyte fertilization; this expanded ECM binds the oocyte and the cumulus cells together, protects the oocyte from the proteolytic and mechanical stresses during extrusion, and allows sperm binding, penetration, and fertilization https://orcid.org/0000-0002-6490-7723 complete inability of the cumulus cells to secrete an extensive extracellular matrix required for successful fertilization absent ovarian cumulus growth failure of cumulus expansion MPheno.ontology MP:0009374 absent cumulus expansion MP:0009374 complete inability of the cumulus cells to secrete an extensive extracellular matrix required for successful fertilization https://orcid.org/0000-0002-6490-7723 reduced thickness of the solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation MPheno.ontology MP:0009375 thin zona pellucida MP:0009375 reduced thickness of the solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation https://orcid.org/0000-0002-6490-7723 any structural anomaly of the conic array of microtubules that invests the posterior nucleus of a spermatid, and is believed to play a role in definitive posterior head-shaping events during spermiogenesis MPheno.ontology MP:0009376 abnormal manchette morphology MP:0009376 any structural anomaly of the conic array of microtubules that invests the posterior nucleus of a spermatid, and is believed to play a role in definitive posterior head-shaping events during spermiogenesis https://orcid.org/0000-0002-6490-7723 abnormal position of the conic array of microtubules that normally invests the posterior nucleus of a spermatid heterotopic manchette mislocalised manchette mislocalized manchette MPheno.ontology MP:0009377 ectopic manchette MP:0009377 abnormal position of the conic array of microtubules that normally invests the posterior nucleus of a spermatid https://orcid.org/0000-0002-6490-7723 any structural anomaly of irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells abnormal ER morphology MPheno.ontology MP:0009378 The endoplasmic reticulum membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). abnormal endoplasmic reticulum morphology MP:0009378 any structural anomaly of irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells GO:0005783 anomaly in the coloration of the foot due to changes in the amount, shape, or distribution of cells producing pigment MPheno.ontology MP:0009379 abnormal foot pigmentation MP:0009379 anomaly in the coloration of the foot due to changes in the amount, shape, or distribution of cells producing pigment MGI:llw2 MGI:mberry any structural anomaly of the rodent prostate lobe that is located below the ventral aspect of the bladder neck MA:0001740 abnormal VP morphology abnormal ventral prostate morphology MPheno.ontology MP:0009380 In rodents, the prostate gland consists of three lobes, the anterior prostate (AP; also known as the coagulating gland), the dorsolateral prostate (DLP), and the ventral prostate (VP). These lobes are arranged circumferentially around the urethra and display characteristic patterns of ductal branching and protein secretion (PMID:3308446). In contrast, the adult human prostate lacks discernible lobular organization and, instead, completely envelops the urethra at the base of the bladder (PMID:3308446). abnormal prostate gland ventral lobe morphology MP:0009380 any structural anomaly of the rodent prostate lobe that is located below the ventral aspect of the bladder neck PMID:12645922 PMID:3308446 any structural anomaly of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle MA:0001739 abnormal DLP morphology abnormal dorsolateral prostate morphology MPheno.ontology MP:0009381 In rodents, the prostate gland consists of three lobes, the anterior prostate (AP; also known as the coagulating gland), the dorsolateral prostate (DLP), and the ventral prostate (VP). These lobes are arranged circumferentially around the urethra and display characteristic patterns of ductal branching and protein secretion (PMID:3308446). In contrast, the adult human prostate lacks discernible lobular organization and, instead, completely envelops the urethra at the base of the bladder (PMID:3308446). abnormal prostate gland dorsolateral lobe morphology MP:0009381 any structural anomaly of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle PMID:12645922 PMID:3308446 any structural anomaly of the gelatinous noncellular material between the endothelial lining and the myocardial layer of the developing heart MPheno.ontology MP:0009382 abnormal cardiac jelly morphology MP:0009382 any structural anomaly of the gelatinous noncellular material between the endothelial lining and the myocardial layer of the developing heart https://orcid.org/0000-0003-4606-0597 OBSOLETE. any structural anomaly of the common arterial trunk opening out of both ventricles that divides into the aorta and pulmonary artery during development MPheno.ontology MP:0009383 obsolete abnormal truncus arteriosus morphology true MP:0009383 OBSOLETE. any structural anomaly of the common arterial trunk opening out of both ventricles that divides into the aorta and pulmonary artery during development https://orcid.org/0000-0003-4606-0597 the backward reflux of blood through a cardiac valve, due to insufficiency caused by disease, aging or congenital malformation cardiac valve insufficiency MPheno.ontology MP:0009384 cardiac valve regurgitation MP:0009384 the backward reflux of blood through a cardiac valve, due to insufficiency caused by disease, aging or congenital malformation https://orcid.org/0000-0003-3691-0324 anomaly in the coloration of the dermal layer of the skin due to changes in the amount, shape, or distribution of cells producing pigment MPheno.ontology MP:0009385 abnormal dermal pigmentation MP:0009385 anomaly in the coloration of the dermal layer of the skin due to changes in the amount, shape, or distribution of cells producing pigment MGI:llw2 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the cells that produce pigment in the dermis abnormal dermal melanocytes MPheno.ontology MP:0009386 abnormal dermal melanocyte morphology MP:0009386 any structural anomaly of the cells that produce pigment in the dermis ISBN:978-1-4051-2034-0 https://orcid.org/0000-0003-3691-0324 anomaly in the coloration of the epidermal layer of the skin due to changes in the amount, shape, or distribution of cells producing pigment MPheno.ontology MP:0009387 abnormal epidermal pigmentation MP:0009387 anomaly in the coloration of the epidermal layer of the skin due to changes in the amount, shape, or distribution of cells producing pigment MGI:llw2 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the cells that produce pigment in the epidermis abnormal epidermal melanocytes abnormal interfollicular melanocyte morphology MPheno.ontology MP:0009388 These cells are found primarily, but not exclusively, in primates including humans. abnormal epidermal melanocyte morphology MP:0009388 any structural anomaly of the cells that produce pigment in the epidermis ISBN:978-1-4051-2034-0 anomaly in the coloration of organs and tissues excluding the integument due to changes in the amount, shape, or distribution of cells producing pigment MPheno.ontology MP:0009389 Note that significant differences exist among populations of melanocytes that populate the cutaneous tissue compared to melanocytes that populate ocular, auditory, and internal body sites. Extracutaneous melanotcytes synthesize melanosomes and melanin only during a short interval after arriving in their target tissue, and they retain their melanosomes throughout the life of the organism instead of transferring to neighboring cells like dermal melanocytes. General morphology and ultrastructure of extracutaneous melanocytes vary and also differ from cutaneous melanocytes. abnormal extracutaneous pigmentation MP:0009389 anomaly in the coloration of organs and tissues excluding the integument due to changes in the amount, shape, or distribution of cells producing pigment ISBN:978-1-4051-2034-0 any anomaly in the pigment or pigment-producing cells of the inner ear resulting in abnormal melanoblast numbers, distribution, or pigment during development abnormal auditory pigmentation abnormal inner ear pigmentation MPheno.ontology MP:0009390 abnormal otic pigmentation MP:0009390 any anomaly in the pigment or pigment-producing cells of the inner ear resulting in abnormal melanoblast numbers, distribution, or pigment during development ISBN:978-1-4051-2034-0 any anomaly in the coloring of the two innermost layers of the meninges, including the pia mater and the arachnoid, due to changes in the amount, shape, or distribution of cells producing pigment MPheno.ontology MP:0009391 abnormal leptomeninges pigmentation MP:0009391 any anomaly in the coloring of the two innermost layers of the meninges, including the pia mater and the arachnoid, due to changes in the amount, shape, or distribution of cells producing pigment ISBN:978-1-4051-2034-0 MGI:llw2 increased proliferation of neuroglia in a damaged area of the retina that may lead to the formation of scar tissue retinal gliosis MPheno.ontology MP:0009392 retina gliosis MP:0009392 increased proliferation of neuroglia in a damaged area of the retina that may lead to the formation of scar tissue https://orcid.org/0000-0003-4606-0597 atypical intentionally or habitually assumed position of the limbs compared to normal carriage when the body is inactive MPheno.ontology MP:0009393 abnormal resting posture MP:0009393 atypical intentionally or habitually assumed position of the limbs compared to normal carriage when the body is inactive MGI:llw2 increased cell number of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy CL:0002343 increased GMG cell number increased dNK cell number increased decidual NK cell number increased decidual natural killer cell number increased granulated metrial gland cell number increased uNK cell number increased uterine natural killer cell number MPheno.ontology MP:0009394 increased uterine NK cell number MP:0009394 increased cell number of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy PMID:14568979 PMID:19800965 presence of increased numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells increased immature erythrocyte cell number persistence of embryonic erythrocytes persistence of primitive erythrocytes MPheno.ontology increased immature RBC cell number increased immature red blood cell number increased nucleated RBC cell number increased nucleated red blood cell number MP:0009395 increased nucleated erythrocyte cell number MP:0009395 presence of increased numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells https://orcid.org/0000-0003-4606-0597 decrease in the average size of the simple or branched tubular glands located in the mucous membrane of the uterus decreased endometrial gland size small glandulae uterinae small uterine glands MPheno.ontology MP:0009396 small endometrial glands MP:0009396 decrease in the average size of the simple or branched tubular glands located in the mucous membrane of the uterus https://orcid.org/0000-0002-6490-7723 greater than normal number of cells of the extraembryonic cell layer that contributes to the placenta MPheno.ontology MP:0009397 increased trophoblast giant cell number MP:0009397 greater than normal number of cells of the extraembryonic cell layer that contributes to the placenta https://orcid.org/0000-0002-6490-7723 anomaly in the size of the large multinucleated cells that make up the skeletal muscles abnormal skeletal muscle fibre size MPheno.ontology MP:0009398 abnormal skeletal muscle fiber size MP:0009398 anomaly in the size of the large multinucleated cells that make up the skeletal muscles https://orcid.org/0000-0003-4606-0597 increase in the size of the large multinucleated cells that make up the skeletal muscles MP:0003399 increased skeletal muscle fibre size skeletal muscle fiber hypertrophy skeletal muscle fibre hypertrophy MPheno.ontology MP:0009399 increased skeletal muscle fiber size MP:0009399 increase in the size of the large multinucleated cells that make up the skeletal muscles https://orcid.org/0000-0003-4606-0597 decrease in the size of the large multinucleated cells that make up the skeletal muscles decreased skeletal muscle fibre size reduced skeletal muscle fiber size reduced skeletal muscle fibre size MPheno.ontology MP:0009400 decreased skeletal muscle fiber size MP:0009400 decrease in the size of the large multinucleated cells that make up the skeletal muscles https://orcid.org/0000-0003-4606-0597 increased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge MPheno.ontology MP:0009401 increased skeletal muscle fiber diameter MP:0009401 increased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge https://orcid.org/0000-0003-3691-0324 decreased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge decreased skeletal muscle fibre diameter reduced skeletal muscle fiber diameter reduced skeletal muscle fibre diameter MPheno.ontology MP:0009402 decreased skeletal muscle fiber diameter MP:0009402 decreased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge https://orcid.org/0000-0003-3691-0324 greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls MPheno.ontology MP:0009403 increased variability of skeletal muscle fiber size MP:0009403 greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls https://orcid.org/0000-0003-3691-0324 cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy centronuclear myopathy centrally localized nuclei in skeletal muscle fibers centrally localized nuclei in skeletal muscle fibres centrally nucleated skeletal muscle fibres nuclear rowing in muscle MPheno.ontology MP:0009404 centrally nucleated skeletal muscle fibers MP:0009404 cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy https://orcid.org/0000-0003-3691-0324 increased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles MPheno.ontology MP:0009405 increased skeletal muscle fiber number MP:0009405 increased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles https://orcid.org/0000-0003-3691-0324 decreased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles MPheno.ontology MP:0009406 decreased skeletal muscle fiber number MP:0009406 decreased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles https://orcid.org/0000-0003-3691-0324 increase in the number of skeletal muscle fibers in a given cross-sectional area of a skeletal muscle MPheno.ontology MP:0009407 increased skeletal muscle fiber density MP:0009407 increase in the number of skeletal muscle fibers in a given cross-sectional area of a skeletal muscle https://orcid.org/0000-0003-3691-0324 decrease in the number of skeletal muscle fibers in a given cross-sectional area of a skeletal muscle decreased skeletal muscle fibre density reduced skeletal muscle fiber density reduced skeletal muscle fibre density MPheno.ontology MP:0009408 decreased skeletal muscle fiber density MP:0009408 decrease in the number of skeletal muscle fibers in a given cross-sectional area of a skeletal muscle https://orcid.org/0000-0003-3691-0324 deviation from the standard ratios of fiber types in a given skeletal muscle compared to control samples abnormal skeletal muscle fiber distribution abnormal skeletal muscle fibre distribution abnormal skeletal muscle fibre type ratio MPheno.ontology MP:0009409 abnormal skeletal muscle fiber type ratio MP:0009409 deviation from the standard ratios of fiber types in a given skeletal muscle compared to control samples https://orcid.org/0000-0003-3691-0324 anomaly in the ability of the elongated, spindle-shaped cells located between the basal lamina and the plasmalemma of a muscle fiber to undergo expansion by cell division, usually triggered by injury or disease; these cells are mostly quiescent, but upon activation they divide to produce cells that generate new muscle fibers MPheno.ontology MP:0009410 Skeletal muscle satellite cells are not traditionally referred to as myoblasts. They are a heterogeneous population whose division, following activation, contributes to the formation of skeletal muscle fibers and to maintenance of the skeletal muscle satellite cell population. abnormal skeletal muscle satellite cell proliferation MP:0009410 anomaly in the ability of the elongated, spindle-shaped cells located between the basal lamina and the plasmalemma of a muscle fiber to undergo expansion by cell division, usually triggered by injury or disease; these cells are mostly quiescent, but upon activation they divide to produce cells that generate new muscle fibers CL:0000594 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the skeletal muscle fiber structure comprised of the transverse tubule and the two associated terminal cisternae; each fiber normally has thousands of triads MPheno.ontology MP:0009411 abnormal skeletal muscle fiber triad morphology MP:0009411 any structural anomaly of the skeletal muscle fiber structure comprised of the transverse tubule and the two associated terminal cisternae; each fiber normally has thousands of triads https://orcid.org/0000-0003-3691-0324 pathological deterioration of skeletal muscle fiber tissue, often accompanied by loss of function skeletal muscle fibre degeneration MPheno.ontology MP:0009412 skeletal muscle fiber degeneration MP:0009412 pathological deterioration of skeletal muscle fiber tissue, often accompanied by loss of function https://orcid.org/0000-0003-3691-0324 acquired diminution of the size of skeletal muscle fibers associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation MPheno.ontology MP:0009413 skeletal muscle fiber atrophy MP:0009413 acquired diminution of the size of skeletal muscle fibers associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation https://orcid.org/0000-0003-3691-0324 morphological changes resulting from pathological death of skeletal muscle fiber tissue; usually due to irreversible damage necrotic skeletal muscle fiber necrotic skeletal muscle fibers necrotic skeletal muscle fibre necrotic skeletal muscle fibres skeletal muscle fibre necrosis MPheno.ontology MP:0009414 skeletal muscle fiber necrosis MP:0009414 morphological changes resulting from pathological death of skeletal muscle fiber tissue; usually due to irreversible damage https://orcid.org/0000-0003-3691-0324 pathological deterioration of skeletal muscle tissue, often accompanied by loss of function MPheno.ontology MP:0009415 skeletal muscle degeneration MP:0009415 pathological deterioration of skeletal muscle tissue, often accompanied by loss of function https://orcid.org/0000-0003-3691-0324 pathological deterioration of cardiac muscle tissue, often accompanied by loss of function MPheno.ontology MP:0009416 cardiac muscle degeneration MP:0009416 pathological deterioration of cardiac muscle tissue, often accompanied by loss of function https://orcid.org/0000-0003-3691-0324 acquired diminution of the size of skeletal muscle tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation MPheno.ontology MP:0009417 skeletal muscle atrophy MP:0009417 acquired diminution of the size of skeletal muscle tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 acquired diminution of cardiac muscle tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation MPheno.ontology MP:0009418 cardiac muscle atrophy MP:0009418 acquired diminution of cardiac muscle tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process MPheno.ontology MP:0009419 skeletal muscle fibrosis MP:0009419 formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process ISBN:0-683-40008-8 replacement of the layer of connective tissue that ensheaths a muscle fiber by fibrous tissue resulting in separation of individual fibers MPheno.ontology MP:0009420 skeletal muscle endomysial fibrosis MP:0009420 replacement of the layer of connective tissue that ensheaths a muscle fiber by fibrous tissue resulting in separation of individual fibers https://orcid.org/0000-0003-3691-0324 increase in the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles MPheno.ontology MP:0009421 increased gastrocnemius weight MP:0009421 increase in the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles ISBN:0-683-40008-8 reduction in the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles MPheno.ontology reduced gastrocnemius weight MP:0009422 decreased gastrocnemius weight MP:0009422 reduction in the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles ISBN:0-683-40008-8 increase in the weight of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle increased EDL weight MPheno.ontology MP:0009423 increased extensor digitorum longus weight MP:0009423 increase in the weight of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle https://orcid.org/0000-0003-4606-0597 reduction in the weight of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle decreased EDL weight reduced EDL weight reduced extensor digitorum longus weight MPheno.ontology MP:0009424 decreased extensor digitorum longus weight MP:0009424 reduction in the weight of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle https://orcid.org/0000-0003-4606-0597 increase in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot MPheno.ontology MP:0009425 increased soleus weight MP:0009425 increase in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot https://orcid.org/0000-0003-4606-0597 reduction in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot reduced soleus weight MPheno.ontology MP:0009426 decreased soleus weight MP:0009426 reduction in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot https://orcid.org/0000-0003-4606-0597 increase in the weight of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot increased TA weight MPheno.ontology MP:0009427 increased tibialis anterior weight MP:0009427 increase in the weight of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot https://orcid.org/0000-0003-4606-0597 redcution in the weight of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot decreased TA weight reduced TA weight reduced tibialis anterior weight MPheno.ontology MP:0009428 decreased tibialis anterior weight MP:0009428 redcution in the weight of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot https://orcid.org/0000-0003-4606-0597 reduced weight of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis) reduced embryo weight MPheno.ontology MP:0009429 decreased embryo weight MP:0009429 reduced weight of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis) https://orcid.org/0000-0003-3691-0324 increase in the weight of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis) MPheno.ontology MP:0009430 increased embryo weight MP:0009430 increase in the weight of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis) https://orcid.org/0000-0003-3691-0324 reduced weight of a fetus compared to controls (sensu Mus: from E14 through birth) decreased foetal weight reduced fetal weight reduced foetal weight MPheno.ontology MP:0009431 decreased fetal weight MP:0009431 reduced weight of a fetus compared to controls (sensu Mus: from E14 through birth) https://orcid.org/0000-0003-3691-0324 increase in the weight of a fetus compared to controls (sensu Mus: from E14 through birth) increased foetal weight MPheno.ontology MP:0009432 increased fetal weight MP:0009432 increase in the weight of a fetus compared to controls (sensu Mus: from E14 through birth) https://orcid.org/0000-0003-3691-0324 an ovarian follicle containing more than one oocyte (ovum) MPheno.ontology MP:0009433 polyovular ovarian follicle MP:0009433 an ovarian follicle containing more than one oocyte (ovum) https://orcid.org/0000-0002-6490-7723 a weakness affecting both lower or hind limbs MPheno.ontology MP:0009434 paraparesis MP:0009434 a weakness affecting both lower or hind limbs MGI:llw2 defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an inhibitory impulse abnormal mIPSCs abnormal miniature inhibitory post-synaptic currents abnormal sIPSCs abnormal spontaneous inhibitory post-synaptic currents abnormal spontaneous inhibitory postsynaptic currents MPheno.ontology MP:0009435 abnormal miniature inhibitory postsynaptic currents MP:0009435 defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an inhibitory impulse https://orcid.org/0000-0003-3691-0324 short bouts of sleep/wake stages with an increased number of transitions among these stages compared to controls MPheno.ontology MP:0009436 fragmentation of sleep/wake states MP:0009436 short bouts of sleep/wake stages with an increased number of transitions among these stages compared to controls PMID:19246384 union of the arytenoid and cricoid cartilages into one structure, when this fusion does not normally occur fused arytenoid and cricoid cartilages fusion of arytenoid and cricoid cartilages MPheno.ontology MP:0009437 arytenoid and cricoid cartilage fusion MP:0009437 union of the arytenoid and cricoid cartilages into one structure, when this fusion does not normally occur https://orcid.org/0000-0003-4606-0597 union of the cricoid cartilage and one or more of the tracheal rings into one structure, when this fusion does not normally occur fused cricoid and tracheal cartilages fusion of cricoid and tracheal cartilages MPheno.ontology MP:0009438 cricoid and tracheal cartilage fusion MP:0009438 union of the cricoid cartilage and one or more of the tracheal rings into one structure, when this fusion does not normally occur https://orcid.org/0000-0003-4606-0597 higher than normal incidence of a malignant tumor of immature myeloid cells, often associated with or preceeding granulocytic leukemia MPheno.ontology EMMT extramedullary myeloid tumors extramedullary myeloid tumours granulocytic sarcoma myeloid sarcoma MP:0009439 increased myeloid sarcoma incidence MP:0009439 higher than normal incidence of a malignant tumor of immature myeloid cells, often associated with or preceeding granulocytic leukemia ISBN:0-683-40008-8 higher than normal incidence of a bone marrow cancer in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body MPheno.ontology myeloma plasma cell tumor plasma cell tumour MP:0009440 increased myeloma incidence MP:0009440 higher than normal incidence of a bone marrow cancer in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body DOID:0070004 ISBN:0-683-40008-8 slowed progression in the establishment of the ability of the skin to regulate water loss MPheno.ontology MP:0009441 delayed skin barrier formation MP:0009441 slowed progression in the establishment of the ability of the skin to regulate water loss https://orcid.org/0000-0003-4606-0597 greater than the expected number of a usually benign tumor found in the ovary, occurring in a specific population in a given time period; ovarian teratomas are typically the result of an anomaly of oogenesis and typically contains a diversity of tissues often representing all organ systems e.g. hair, teeth, bone, thyroid, nerve tissue MPheno.ontology ovarian dermoid cyst ovarian teratoma MP:0009442 increased ovarian teratoma incidence MP:0009442 greater than the expected number of a usually benign tumor found in the ovary, occurring in a specific population in a given time period; ovarian teratomas are typically the result of an anomaly of oogenesis and typically contains a diversity of tissues often representing all organ systems e.g. hair, teeth, bone, thyroid, nerve tissue MGI:llw2 development of an egg into a diploid embryo without being fertilized parthenogenetic embryo unigenesis MPheno.ontology MP:0009443 parthenogenesis MP:0009443 development of an egg into a diploid embryo without being fertilized MGI:llw2 presence of one or more fluid-filled membranous sacs arising when ovarian follicles fail to rupture during ovulation cystic ovarian follicle cystic ovarian follicles ovarian follicular cysts MPheno.ontology MP:0009444 ovarian follicular cyst MP:0009444 presence of one or more fluid-filled membranous sacs arising when ovarian follicles fail to rupture during ovulation MGI:llw2 gradual softening and bending of the bones due to failure of osteoid tissue to calcify as a result of vitamin D deficiency or renal tubular dysfunction adult rickets late rickets rachitis tarda MPheno.ontology increased osteoid amount MP:0009445 osteomalacia MP:0009445 gradual softening and bending of the bones due to failure of osteoid tissue to calcify as a result of vitamin D deficiency or renal tubular dysfunction https://orcid.org/0000-0002-6490-7723 any functional anomaly of the specialized secretory organelles located in the small, irregularly shaped anuclear cells derived from fragmentation of precursor megakaryocytes that contain adenine nucleotides (ADP and ATP), ionized calcium, histamine, serotonin, and epinephrine abnormal delta granule physiology abnormal dense body physiology MPheno.ontology MP:0009446 abnormal platelet dense granule physiology MP:0009446 any functional anomaly of the specialized secretory organelles located in the small, irregularly shaped anuclear cells derived from fragmentation of precursor megakaryocytes that contain adenine nucleotides (ADP and ATP), ionized calcium, histamine, serotonin, and epinephrine MGI:llw2 anomaly in the amount of the major energy source adenosine triphosphate produced by dense bodies located in platelets abnormal platelet adenosine triphosphate level MPheno.ontology MP:0009447 abnormal platelet ATP level MP:0009447 anomaly in the amount of the major energy source adenosine triphosphate produced by dense bodies located in platelets MGI:llw2 reduced concentration of the major energy source adenosine triphosphate produced by dense bodies located in platelets decreased platelet adenosine triphosphate level reduced platelet ATP level MPheno.ontology MP:0009448 decreased platelet ATP level MP:0009448 reduced concentration of the major energy source adenosine triphosphate produced by dense bodies located in platelets MGI:llw2 increased concentration of the major energy source adenosine triphosphate produced by dense bodies located in platelets increased platelet adenosine triphosphate level MPheno.ontology MP:0009449 increased platelet ATP level MP:0009449 increased concentration of the major energy source adenosine triphosphate produced by dense bodies located in platelets MGI:llw2 anomaly in the process by which axons form into nerve fiber bundles GO:0007413 abnormal fasciculation of neuron axon MPheno.ontology MP:0009450 abnormal axon fasciculation MP:0009450 anomaly in the process by which axons form into nerve fiber bundles https://orcid.org/0000-0003-4606-0597 any anomaly in the meiotic cell cycle process where side by side pairing and physical juxtaposition of homologous chromosomes is created during prophase I of meiosis; synapsis begins when the chromosome arms begin to pair from the clustered telomeres and ends when synaptonemal complex or linear element assembly is complete GO:0007129 abnormal chromosomal syndesis abnormal chromosome pairing during meiosis abnormal homologous chromosome pairing at meiosis abnormal meiotic chromosome synapsis MPheno.ontology abnormal chromosomal pairing abnormal chromosome pairing MP:0009451 abnormal chromosomal synapsis MP:0009451 an anomaly in the formation of the proteinaceous structure involved in the pairing of homologous chromosomes during first prophase of meiosis MPheno.ontology MP:0009452 abnormal synaptonemal complex MP:0009452 an anomaly in the formation of the proteinaceous structure involved in the pairing of homologous chromosomes during first prophase of meiosis MGI:llw2 increase in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case) enhanced contextual fear conditioning MPheno.ontology MP:0009453 enhanced contextual conditioning behavior MP:0009453 increase in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case) https://orcid.org/0000-0003-4606-0597 decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case) impaired contextual fear conditioning MPheno.ontology MP:0009454 impaired contextual conditioning behavior MP:0009454 decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case) https://orcid.org/0000-0003-4606-0597 increase in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash) enhanced cued conditioning behaviour enhanced cued fear conditioning increased cued conditioning behavior MPheno.ontology MP:0009455 enhanced cued conditioning behavior MP:0009455 increase in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash) https://orcid.org/0000-0003-4606-0597 decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash) decreased cued conditioning behavior impaired cued conditioning behaviour impaired cued fear conditioning MPheno.ontology MP:0009456 impaired cued conditioning behavior MP:0009456 decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash) https://orcid.org/0000-0003-4606-0597 an area of hair growing opposite in direction to the rest of the hair, a curl or swirl MPheno.ontology MP:0009457 whorled hair MP:0009457 an area of hair growing opposite in direction to the rest of the hair, a curl or swirl MGI:llw2 anomaly in the size of the striated muscle fibers connected at either or both extremities with the bony framework of the body MPheno.ontology MP:0009458 abnormal skeletal muscle size MP:0009458 anomaly in the size of the striated muscle fibers connected at either or both extremities with the bony framework of the body ISBN:0-683-40008-8 MGI:llw2 increase in the number of normal cells in normal arrangement in the skeletal muscle, typically resulting in increased size hyperplastic skeletal muscle MPheno.ontology MP:0009459 skeletal muscle hyperplasia MP:0009459 increase in the number of normal cells in normal arrangement in the skeletal muscle, typically resulting in increased size MGI:llw2 decrease in the number of normal cells in normal arrangement in the skeletal muscle, typically resulting in decreased size hypoplastic skeletal muscle MPheno.ontology MP:0009460 skeletal muscle hypoplasia MP:0009460 decrease in the number of normal cells in normal arrangement in the skeletal muscle, typically resulting in decreased size MGI:llw2 increase in the bulk size of the skeletal muscle due to cell enlargement MPheno.ontology MP:0009461 skeletal muscle hypertrophy MP:0009461 increase in the bulk size of the skeletal muscle due to cell enlargement MGI:llw2 decrease in the bulk size of the skeletal muscle due to cell shrinkage MPheno.ontology MP:0009462 skeletal muscle hypotrophy MP:0009462 decrease in the bulk size of the skeletal muscle due to cell shrinkage MGI:llw2 any structural anomaly of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland abnormal hypophyseal stalk abnormal infundibular stem morphology abnormal pituitary infundibulum abnormal pituitary stalk morphology MPheno.ontology MP:0009463 abnormal pituitary infundibular stalk morphology MP:0009463 any structural anomaly of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland ISBN:0-683-40008-8 true MP:0009464 any structural anomaly of the tapering portion of the gall bladder that narrows to form the neck and cystic duct abnormal gall bladder infundibulum morphology abnormal infundibulum of gallbladder abnormal infundibulum vesicae biliaris MPheno.ontology MP:0009465 abnormal gallbladder infundibulum morphology MP:0009465 any structural anomaly of the tapering portion of the gall bladder that narrows to form the neck and cystic duct ISBN:0-683-40008-8 any structural anomaly of the funnel-like expansion of the abdominal extremity of the uterine tube abnormal infundibulum of uterine tube MPheno.ontology MP:0009466 abnormal uterine tube infundibulum morphology MP:0009466 any structural anomaly of the funnel-like expansion of the abdominal extremity of the uterine tube ISBN:0-683-40008-8 any structural anomaly of the cells residing mainly in the hypothalamic supraoptic and paraventricular nuclei and in a number of smaller accessory cell groups between these two nuclei, and secrete the hormones oxytocin and vasopressin abnormal magnocellular neuron morphology MPheno.ontology MP:0009467 abnormal magnocellular neurosecretory cell morphology MP:0009467 any structural anomaly of the cells residing mainly in the hypothalamic supraoptic and paraventricular nuclei and in a number of smaller accessory cell groups between these two nuclei, and secrete the hormones oxytocin and vasopressin PMID:10711808 absence of the cells residing mainly in the hypothalamic supraoptic and paraventricular nuclei and in a number of smaller accessory cell groups between these two nuclei, and secrete the hormones oxytocin and vasopressin MPheno.ontology MP:0009468 absent magnocellular neurosecretory cells MP:0009468 absence of the cells residing mainly in the hypothalamic supraoptic and paraventricular nuclei and in a number of smaller accessory cell groups between these two nuclei, and secrete the hormones oxytocin and vasopressin PMID:10711808 greater than the expected number of a benign formation of a mass of tissue of disproportionate size and distribution in the skin, but composed of an overgrowth of mature cells and tissues that normally occur in this tissue, occurring in a specific population in a given time period MPheno.ontology skin hamartoma MP:0009469 increased skin hamartoma incidence MP:0009469 greater than the expected number of a benign formation of a mass of tissue of disproportionate size and distribution in the skin, but composed of an overgrowth of mature cells and tissues that normally occur in this tissue, occurring in a specific population in a given time period MGI:llw2 during embryogenesis a second structure develops with its parts arranged in a reversal of right and left orientation MPheno.ontology MP:0009470 mirror image duplication MP:0009470 during embryogenesis a second structure develops with its parts arranged in a reversal of right and left orientation MGI:llw2 any change in the amount of sulfate in the urine abnormal urine sulphate level MPheno.ontology MP:0009471 abnormal urine sulfate level MP:0009471 any change in the amount of sulfate in the urine https://orcid.org/0000-0002-6490-7723 an increase in amount of sulfates in the urine hypersulfaturia hypersulphaturia increased urine sulphate level MPheno.ontology MP:0009472 increased urine sulfate level MP:0009472 an increase in amount of sulfates in the urine https://orcid.org/0000-0002-6490-7723 anomaly in the process of detachment and shedding of superficial cells of a skin epithelium MPheno.ontology MP:0009473 abnormal skin exfoliation MP:0009473 anomaly in the process of detachment and shedding of superficial cells of a skin epithelium MGI:llw2 increased thickness of the stratum spinosum; the polyhedral cell layer thick epidermal spinous layer thick prickle cell layer thick spinous layer thick stratum spinosum MPheno.ontology MP:0009474 thick epidermis stratum spinosum MP:0009474 increased thickness of the stratum spinosum; the polyhedral cell layer MGI:llw2 change in the measured amplitude, current density or duration of response to stimulation of nicotinic receptors MPheno.ontology MP:0009475 abnormal nicotine-mediated receptor currents MP:0009475 change in the measured amplitude, current density or duration of response to stimulation of nicotinic receptors ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 increased size of the large sac at the ileum and large intestine junction enlarged caecum increased cecum size MPheno.ontology MP:0009476 enlarged cecum MP:0009476 increased size of the large sac at the ileum and large intestine junction https://orcid.org/0000-0002-6490-7723 reduced size of the large sac at the ileum and large intestine junction decreased cecum size reduced caecum size reduced cecum size small caecum MPheno.ontology MP:0009477 small cecum MP:0009477 reduced size of the large sac at the ileum and large intestine junction https://orcid.org/0000-0002-6490-7723 corkscrew or worm-like appearance of the large sac at the ileum and large intestine junction coiled caecum MPheno.ontology MP:0009478 coiled cecum MP:0009478 corkscrew or worm-like appearance of the large sac at the ileum and large intestine junction https://orcid.org/0000-0002-6490-7723 malformation or aberrant differentiation of the large sac at the ileum and large intestine junction abnormal caecum development MPheno.ontology MP:0009479 abnormal cecum development MP:0009479 malformation or aberrant differentiation of the large sac at the ileum and large intestine junction https://orcid.org/0000-0002-6490-7723 an expansion in the volume of the large sac at the ileum and large intestine junction, as by stretching or distention dilated caecum dilated cecum swollen caecum swollen cecum MPheno.ontology MP:0009480 distended cecum MP:0009480 an expansion in the volume of the large sac at the ileum and large intestine junction, as by stretching or distention https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in the cecum caecum inflammation cecitis typhlenteritis typhlitis typhloenteritis MPheno.ontology MP:0009481 cecum inflammation MP:0009481 local accumulation of fluid, plasma proteins, and leukocytes in the cecum https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in the ileum ileitis MPheno.ontology MP:0009482 ileum inflammation MP:0009482 local accumulation of fluid, plasma proteins, and leukocytes in the ileum https://orcid.org/0000-0002-6490-7723 increased size of the portion of the small intestine that extends from the jejunum to the colon increased ileum size MPheno.ontology MP:0009483 enlarged ileum MP:0009483 increased size of the portion of the small intestine that extends from the jejunum to the colon https://orcid.org/0000-0002-6490-7723 an increase in the bulk size of the portion of the small intestine that extends from the jejunum to the colon due to cell enlargement ileal hypertrophy MPheno.ontology MP:0009484 ileum hypertrophy MP:0009484 an increase in the bulk size of the portion of the small intestine that extends from the jejunum to the colon due to cell enlargement https://orcid.org/0000-0002-6490-7723 an expansion in the volume of the portion of the small intestine that extends from the jejunum to the colon, as by stretching or distention dilated ileum ileal distension mega-ileum swollen ileum MPheno.ontology MP:0009485 distended ileum MP:0009485 an expansion in the volume of the portion of the small intestine that extends from the jejunum to the colon, as by stretching or distention https://orcid.org/0000-0002-6490-7723 fusion of the rectum and vaginal canals recto-vaginal fusion MPheno.ontology MP:0009486 rectovaginal fusion MP:0009486 fusion of the rectum and vaginal canals MGI:mberry fusion of the rectum and urethral canals recto-urethral fusion MPheno.ontology MP:0009487 rectourethral fusion MP:0009487 fusion of the rectum and urethral canals MGI:mberry change in the timing or the number of pancreatic islet cells undergoing programmed cell death MPheno.ontology MP:0009488 abnormal pancreatic islet cell apoptosis MP:0009488 change in the timing or the number of pancreatic islet cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 any structural anomaly of the thin layer of flat cells that line the blood vessels and form a barrier between circulating blood in the lumen and the rest of the vessel wall MA:0000709 MPheno.ontology MP:0009489 abnormal blood vessel endothelium morphology MP:0009489 any structural anomaly of the thin layer of flat cells that line the blood vessels and form a barrier between circulating blood in the lumen and the rest of the vessel wall ISBN:0-683-40008-8 any structural anomaly of the small conical pouch projections located on the upper anterior portion of the left atrium of the heart abnormal LAA morphology abnormal auricula atrii sinistra morphology abnormal left atrial appendage morphology abnormal left auricle morphology abnormal left auricular appendage morphology abnormal left auricular appendix morphology MPheno.ontology MP:0009490 abnormal heart left atrium auricular region morphology MP:0009490 any structural anomaly of the small conical pouch projections located on the upper anterior portion of the left atrium of the heart ISBN:0-683-40008-8 any structural anomaly of the small conical pouch projections located on the upper anterior portion of the right atrium of the heart abnormal RAA morphology abnormal right atrial appendage morphology abnormal right auricle morphology abnormal right auricula morphology abnormal right auricular appendix morphology MPheno.ontology MP:0009491 abnormal heart right atrium auricular region morphology MP:0009491 any structural anomaly of the small conical pouch projections located on the upper anterior portion of the right atrium of the heart ISBN:0-683-40008-8 any structural anomaly of the simple columnar epithelial lining of the gall bladder abnormal gall bladder epithelium morphology MPheno.ontology MP:0009492 abnormal gallbladder epithelium morphology MP:0009492 any structural anomaly of the simple columnar epithelial lining of the gall bladder https://orcid.org/0000-0003-3691-0324 any structural anomaly of the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct abnormal cystic gall duct morphology abnormal ductus cysticus morphology MPheno.ontology MP:0009493 abnormal cystic duct morphology MP:0009493 any structural anomaly of the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct ISBN:0-683-40008-8 any structural anomaly of the excretory ducts of the liver that connect the interlobular ductules to the right or left hepatic duct abnormal intrahepatic bile duct morphology abnormal cannalicular ductule morphology abnormal ductuli biliferi MPheno.ontology MP:0009494 abnormal biliary ductule morphology MP:0009494 any structural anomaly of the excretory ducts of the liver that connect the interlobular ductules to the right or left hepatic duct ISBN:0-683-40008-8 any structural anomaly of the part of the biliary tree formed by the union of the cystic duct and the common hepatic duct abnormal choledoch duct abnormal ductus choledochus MPheno.ontology MP:0009495 abnormal common bile duct morphology MP:0009495 any structural anomaly of the part of the biliary tree formed by the union of the cystic duct and the common hepatic duct https://orcid.org/0000-0003-3691-0324 any structural anomaly of the part of the biliary tree formed by the union of the right and left hepatic ducts, and joins the cystic duct to form the common bile duct abnormal ductus hepaticus communis anbormal hepatocystic duct morphology MPheno.ontology MP:0009496 abnormal common hepatic duct morphology MP:0009496 any structural anomaly of the part of the biliary tree formed by the union of the right and left hepatic ducts, and joins the cystic duct to form the common bile duct https://orcid.org/0000-0003-3691-0324 any structural anomaly of the passages within the liver for the conveyance of bile abnormal intrahepatic biliary system morphology MPheno.ontology MP:0009497 abnormal intrahepatic bile duct morphology MP:0009497 any structural anomaly of the passages within the liver for the conveyance of bile MESH:A03.159.183.158 any structural anomaly of the passages external to the liver for the conveyance of bile abnormal extrahepatic biliary system morphology MPheno.ontology MP:0009498 abnormal extrahepatic bile duct morphology MP:0009498 any structural anomaly of the passages external to the liver for the conveyance of bile MESH:A03.159.183.079 any structural anomaly of the tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule abnormal canal of Hering abnormal intrahepatic bile ductule morphology MPheno.ontology MP:0009499 abnormal intralobular bile duct morphology MP:0009499 any structural anomaly of the tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule https://orcid.org/0000-0003-3691-0324 any structural anomaly of the canals that carry bile in the liver between the intralobular ducts and the biliary ductules; interlobular bile ducts are part of the interlobular portal triad abnormal interlobular ductule morphology MPheno.ontology MP:0009500 abnormal interlobular bile duct morphology MP:0009500 any structural anomaly of the canals that carry bile in the liver between the intralobular ducts and the biliary ductules; interlobular bile ducts are part of the interlobular portal triad https://orcid.org/0000-0003-3691-0324 any structural anomaly of the two canals (left and right) that collect and drain bile from the left and right half of the liver from the biliary ductules and join external to the liver to form the common hepatic duct MPheno.ontology MP:0009501 Note that part of the hepatic ducts are located within the liver and part is extrahepatic. abnormal hepatic duct morphology MP:0009501 any structural anomaly of the two canals (left and right) that collect and drain bile from the left and right half of the liver from the biliary ductules and join external to the liver to form the common hepatic duct https://orcid.org/0000-0003-3691-0324 any structural anomaly of the circular pigmented region of the breast that surrounds the nipple and delineates the area containing the areolar glands abnormal areola mammae abnormal areola of nipple abnormal areola papillaris MPheno.ontology MP:0009502 abnormal areola morphology MP:0009502 any structural anomaly of the circular pigmented region of the breast that surrounds the nipple and delineates the area containing the areolar glands ISBN:0-683-40008-8 any structural anomaly of the canals that lead from the lobes of the mammary gland to the tip of the nipple and are responsible for carrying milk toward the nipple in a lactating female abnormal canalicular duct morphology abnormal ductus lactiferi morphology abnormal galactophore morphology abnormal galactophorus canal morphology abnormal galactophorus duct morphology abnormal lactiferous duct morphology abnormal mammary duct morphology abnormal mammilary duct morphology abnormal milk duct morphology abnormal tubuli galactophori morphology abnormal tubuli lactiferi MPheno.ontology MP:0009503 abnormal mammary gland duct morphology MP:0009503 any structural anomaly of the canals that lead from the lobes of the mammary gland to the tip of the nipple and are responsible for carrying milk toward the nipple in a lactating female ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the mammary gland epithelium which is normally enveloped by a basement membrane, embedded into fatty connective tissue stroma, and organized as a bilayer, with an inner luminal layer of secretory epithelial cells, and an outer basal layer; each cell layer expresses specific molecular markers; luminal epithelial cells are characterized by the expression of the receptors for systemic hormones, i.e. estrogens, progesterone and prolactin, whereas basal cells (aka myoepithelial cells) express smooth muscle contractile proteins; in functionally differentiated mammary gland, during lactation, luminal cells produce milk, whereas myoepithelial cells are contractile and serve for milk expulsion MPheno.ontology MP:0009504 abnormal mammary gland epithelium morphology MP:0009504 any structural anomaly of the mammary gland epithelium which is normally enveloped by a basement membrane, embedded into fatty connective tissue stroma, and organized as a bilayer, with an inner luminal layer of secretory epithelial cells, and an outer basal layer; each cell layer expresses specific molecular markers; luminal epithelial cells are characterized by the expression of the receptors for systemic hormones, i.e. estrogens, progesterone and prolactin, whereas basal cells (aka myoepithelial cells) express smooth muscle contractile proteins; in functionally differentiated mammary gland, during lactation, luminal cells produce milk, whereas myoepithelial cells are contractile and serve for milk expulsion http://umr144.curie.fr/en/research-groups/molecular-mechanisms-mammary-gland-development-marina-glukhova/molecular-mechanisms- https://orcid.org/0000-0002-6490-7723 any structural anomaly of a group of alveoli and the intralobular portion of the terminal duct of the mammary gland MPheno.ontology MP:0009505 abnormal mammary gland lobule morphology MP:0009505 any structural anomaly of a group of alveoli and the intralobular portion of the terminal duct of the mammary gland https://orcid.org/0000-0003-3691-0324 any structural anomaly of the sac-like structure of the mammary gland that secretes milk after pregnancy abnormal mammary gland alveolar morphology abnormal mammary gland alveoli MPheno.ontology MP:0009506 abnormal mammary gland alveolus morphology MP:0009506 any structural anomaly of the sac-like structure of the mammary gland that secretes milk after pregnancy https://orcid.org/0000-0003-3691-0324 any structural anomaly of the fibrous supportive tissue of the mammary gland MPheno.ontology MP:0009507 abnormal mammary gland connective tissue morphology MP:0009507 any structural anomaly of the fibrous supportive tissue of the mammary gland https://orcid.org/0000-0003-3691-0324 higher than normal incidence of malignant tumors of the ducts of the mammary gland MPheno.ontology ductal carcinoma in situ mammary gland ductal carcinoma MP:0009508 increased mammary gland ductal carcinoma incidence MP:0009508 higher than normal incidence of malignant tumors of the ducts of the mammary gland https://orcid.org/0000-0003-3691-0324 absence or loss of the terminal portion of the intestinal tube adjacent to the anus MPheno.ontology MP:0009509 absent rectum MP:0009509 absence or loss of the terminal portion of the intestinal tube adjacent to the anus https://orcid.org/0000-0002-6490-7723 congenital blockage or absence of the lumen of the cecum caecum atresia cecum atresia MPheno.ontology MP:0009510 cecal atresia MP:0009510 congenital blockage or absence of the lumen of the cecum https://orcid.org/0000-0002-6490-7723 an expansion in the volume of the sac-like structure of the digestive canal between the esophagus and the small intestine, as by stretching or distention dilated stomach gastric distension swollen stomach MPheno.ontology MP:0009511 distended stomach MP:0009511 an expansion in the volume of the sac-like structure of the digestive canal between the esophagus and the small intestine, as by stretching or distention https://orcid.org/0000-0002-6490-7723 any structural anomaly of the population of large inhibitory GABAergic interneurons found in the cerebellar internal granule layer which act by altering the mossy fibre - granule cell synapse; the main synapse made by these cells is a synapse onto the mossy fibre - granule cell excitatory synapse in a glomerulus, which is composed of the mossy fibre terminal, granule cell dendrites, and golgi terminal and is enclosed by a glial coat abnormal Golgi cell MPheno.ontology MP:0009512 abnormal cerebellar Golgi cell morphology MP:0009512 any structural anomaly of the population of large inhibitory GABAergic interneurons found in the cerebellar internal granule layer which act by altering the mossy fibre - granule cell synapse; the main synapse made by these cells is a synapse onto the mossy fibre - granule cell excitatory synapse in a glomerulus, which is composed of the mossy fibre terminal, granule cell dendrites, and golgi terminal and is enclosed by a glial coat https://orcid.org/0000-0002-6490-7723 true MP:0009513 posture distinguished by a faltering gait while walking and/or a swaying motion of the trunk or head while resting; often is a characteristic of cellebellar disease MPheno.ontology MP:0009514 titubation MP:0009514 posture distinguished by a faltering gait while walking and/or a swaying motion of the trunk or head while resting; often is a characteristic of cellebellar disease MGI:llw2 higher than normal incidence of non-epithelial, mesenchymal tumors of the gastrointestinal tract, thought to originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract; approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum; GISTs are tumors of connective tissue, i.e. sarcomas, account for 1-3% of all gastrointestinal malignancies in human, and are typically more cellular than other gastrointestinal sarcomas increased gastrointestinal stromal tumour incidence MPheno.ontology GISTs gastrointestinal stromal tumor gastrointestinal stromal tumour MP:0009515 increased gastrointestinal stromal tumor incidence MP:0009515 higher than normal incidence of non-epithelial, mesenchymal tumors of the gastrointestinal tract, thought to originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract; approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum; GISTs are tumors of connective tissue, i.e. sarcomas, account for 1-3% of all gastrointestinal malignancies in human, and are typically more cellular than other gastrointestinal sarcomas MIM:606764 http://en.wikipedia.org/wiki/Gastrointestinal_stromal_tumor https://orcid.org/0000-0002-6490-7723 increased size of the saliva-secreting glands of the oral cavity increased salivary gland size MPheno.ontology MP:0009516 enlarged salivary gland MP:0009516 increased size of the saliva-secreting glands of the oral cavity ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the tubular canals that carry saliva abnormal striated duct morphology MPheno.ontology MP:0009517 abnormal salivary gland duct morphology MP:0009517 any structural anomaly of the tubular canals that carry saliva ISBN:0-683-40008-8 any structural anomaly of the small glands located near the apex of the tongue on either side of the frenulum abnormal Bauhin gland morphology abnormal Blandin gland morphology abnormal Nuhn gland morphology abnormal apical gland morphology abnormal glandula lingualis anterior morphology abnormal lingual gland morphology MPheno.ontology MP:0009518 abnormal anterior lingual gland morphology MP:0009518 any structural anomaly of the small glands located near the apex of the tongue on either side of the frenulum ISBN:0-683-40008-8 any structural anomaly of the racemose, mucous or serous glands in the submucous tissue of the cheeks abnormal buccal gland morphology abnormal genal gland morphology abnormal glanduale buccales morphology MPheno.ontology MP:0009519 abnormal anterior buccal gland morphology MP:0009519 any structural anomaly of the racemose, mucous or serous glands in the submucous tissue of the cheeks ISBN:0-683-40008-8 reduced size of either of the large major salivary glands situated beneath the mandible decreased maxillary gland size decreased submaxillary gland size reduced submandibular gland size reduced submaxillary gland size small maxillary gland small submandibular gland small submaxillary gland MPheno.ontology MP:0009520 decreased submandibular gland size MP:0009520 reduced size of either of the large major salivary glands situated beneath the mandible https://orcid.org/0000-0003-3691-0324 increased size of either of the large major salivary glands situated beneath the mandible enlarged maxillary gland enlarged submandibular gland enlarged submaxillary gland increased maxillary gland size increased submaxillary gland size MPheno.ontology MP:0009521 increased submandibular gland size MP:0009521 increased size of either of the large major salivary glands situated beneath the mandible https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the submandibular gland, typically resulting in decreased size hypoplastic maxillary gland hypoplastic submandibular gland hypoplastic submaxillary gland maxillary gland hypoplasia submaxillary gland hypoplasia MPheno.ontology MP:0009522 submandibular gland hypoplasia MP:0009522 decrease in the number of normal cells in normal arrangement in the submandibular gland, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the submandibular gland, typically resulting in increased size hyperplastic maxillary gland hyperplastic submandibular gland hyperplastic submaxillary gland maxillary gland hyperplasia submaxillary gland hyperplasia MPheno.ontology MP:0009523 submandibular gland hyperplasia MP:0009523 increase in the number of normal cells in normal arrangement in the submandibular gland, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 absence of either of the large major salivary glands situated beneath the mandible absent maxillary gland MPheno.ontology absent submaxillary gland MP:0009524 absent submandibular gland MP:0009524 absence of either of the large major salivary glands situated beneath the mandible https://orcid.org/0000-0003-3691-0324 any structural anomaly of the duct of the submadibular gland that opens at the sublingual papilla near the frenulum of the tongue abnormal Wharton duct morphology abnormal Wharton's duct morphology abnormal submaxillary duct morphology MPheno.ontology MP:0009525 abnormal submandibular duct morphology MP:0009525 any structural anomaly of the duct of the submadibular gland that opens at the sublingual papilla near the frenulum of the tongue ISBN:0-683-40008-8 absence of the small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland absent Rivinus gland MPheno.ontology MP:0009526 absent sublingual gland MP:0009526 absence of the small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland https://orcid.org/0000-0003-3691-0324 any structural anomaly of the canals that drain the sublingual gland MPheno.ontology MP:0009527 abnormal sublingual duct morphology MP:0009527 any structural anomaly of the canals that drain the sublingual gland https://orcid.org/0000-0003-3691-0324 any structural anomaly of the duct that drains the anterior portion of the sublingual gland and opens at the sublingual papilla abnormal Bartholin duct morphology MPheno.ontology MP:0009528 abnormal major sublingual duct morphology MP:0009528 any structural anomaly of the duct that drains the anterior portion of the sublingual gland and opens at the sublingual papilla ISBN:0-683-40008-8 any structural anomaly of the 8-20 small ducts that open into the mouth on the surface of the sublingual fold abnormal Rivinus duct morphology abnormal Walther duct morphology abnormal Wather canal morphology MPheno.ontology MP:0009529 abnormal minor sublingual duct morphology MP:0009529 any structural anomaly of the 8-20 small ducts that open into the mouth on the surface of the sublingual fold ISBN:0-683-40008-8 any structural anomaly of the main excretory tubular canal that connects the parotid gland and the buccal mucosa and secretes a serous saliva into the vestibule of the oral cavity; it arises from the anterior surface of the gland, traversing the masseter muscle; the duct then pierces the buccinator muscle, moving medially, and opens out into the oral cavity near the second upper molar; saliva produced by acinar secretory cells in the glandular body flows sequentially through the intercalated ducts, striated ducts, and excretory ducts abnormal parotid duct morphology abnormal Blasius duct morphology abnormal Steno duct morphology abnormal Steno's duct morphology abnormal Stenon's duct morphology abnormal Stensen duct morphology abnormal Stensen's duct morphology abnormal Stenson duct morphology abnormal Stenson's duct morphology MPheno.ontology MP:0009530 The excretory ducts coalesce and form a single main excretory duct that opens into the oral cavity. Excretory ducts are interlobular. abnormal parotid main excretory duct morphology MP:0009530 any structural anomaly of the main excretory tubular canal that connects the parotid gland and the buccal mucosa and secretes a serous saliva into the vestibule of the oral cavity; it arises from the anterior surface of the gland, traversing the masseter muscle; the duct then pierces the buccinator muscle, moving medially, and opens out into the oral cavity near the second upper molar; saliva produced by acinar secretory cells in the glandular body flows sequentially through the intercalated ducts, striated ducts, and excretory ducts ISBN:0-683-40008-8 PMID:23209333 http://ctrgenpath.net/static/atlas/mousehistology/Windows/digestive/parotide.html http://teachmeanatomy.info/head/organs/parotid-gland/ increased size of either of the largest of the major salivary glands situated below and in front of each ear enlarged parotid gland increased external salivary gland size increased glandula parotidea size increased glandula parotis size MPheno.ontology MP:0009531 increased parotid gland size MP:0009531 increased size of either of the largest of the major salivary glands situated below and in front of each ear https://orcid.org/0000-0003-3691-0324 reduced size of either of the largest of the major salivary glands situated below and in front of each ear decreased external salivary gland size decreased glandula parotidea size decreased glandula parotis size reduced external salivary gland size reduced glandula parotidea size reduced glandula parotis size reduced parotid gland size MPheno.ontology small parotid gland MP:0009532 decreased parotid gland size MP:0009532 reduced size of either of the largest of the major salivary glands situated below and in front of each ear https://orcid.org/0000-0003-3691-0324 absence of the salivary gland of the hard palate absent glandulae palatinae MPheno.ontology MP:0009533 absent palatine gland MP:0009533 absence of the salivary gland of the hard palate ISBN:0-683-40008-8 absence of the small glands located near the apex of the tongue on either side of the frenulum absent Bauhin gland absent Blandin gland absent Nuhn gland absent apical gland absent glandula lingualis anterior absent lingual gland MPheno.ontology MP:0009534 absent anterior lingual gland MP:0009534 absence of the small glands located near the apex of the tongue on either side of the frenulum ISBN:0-683-40008-8 any structural anomaly of the holocrine glands of the dermis that secrete sebum into the hair follicles MPheno.ontology MP:0009535 abnormal skin sebaceous gland morphology MP:0009535 any structural anomaly of the holocrine glands of the dermis that secrete sebum into the hair follicles ISBN:0-683-40008-8 any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which gastrointestinal stromal tumours (GISTs) arise; abnormalities in the ICC network can cause chronic intestinal pseudo-obstruction abnormal ICC morphology MPheno.ontology MP:0009536 abnormal interstitial cell of Cajal morphology MP:0009536 any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which gastrointestinal stromal tumours (GISTs) arise; abnormalities in the ICC network can cause chronic intestinal pseudo-obstruction PMID:16460275 https://orcid.org/0000-0002-6490-7723 increased number of the pacemaker cells of the gastrointestinal tract which mediate inputs from the enteric nervous system to smooth muscle cells and trigger gut contraction ICC hyperplasia MPheno.ontology MP:0009537 interstitial cells of Cajal hyperplasia MP:0009537 increased number of the pacemaker cells of the gastrointestinal tract which mediate inputs from the enteric nervous system to smooth muscle cells and trigger gut contraction PMID:16460275 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means MPheno.ontology MP:0009538 abnormal synapse morphology MP:0009538 any structural anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means ISBN:0-683-40008-8 MESH:A08.850 any structural anomaly of the small spherical bodies of epithelial cells found in the medulla of the thymus, that are arranged in a concentric pattern around clusters of degenerating lymphocytes, eosinophils and macrophages abnormal Hassal body morphology abnormal Hassall concentric corpuscle morphology abnormal Virchow-Hassall body morphology abnormal thymic corpuscle morphology MPheno.ontology MP:0009539 abnormal Hassall's corpuscle morphology MP:0009539 any structural anomaly of the small spherical bodies of epithelial cells found in the medulla of the thymus, that are arranged in a concentric pattern around clusters of degenerating lymphocytes, eosinophils and macrophages ISBN:0-683-40008-8 absence of the small spherical bodies of epithelial cells found in the medulla of the thymus, that are arranged in a concentric pattern around clusters of degenerating lymphocytes, eosinophils and macrophages MPheno.ontology MP:0009540 absent Hassall's corpuscle MP:0009540 absence of the small spherical bodies of epithelial cells found in the medulla of the thymus, that are arranged in a concentric pattern around clusters of degenerating lymphocytes, eosinophils and macrophages ISBN:0-683-40008-8 increase in the number of immature T cells located in the thymus that are undergoing programmed cell death MPheno.ontology MP:0009541 increased thymocyte apoptosis MP:0009541 increase in the number of immature T cells located in the thymus that are undergoing programmed cell death CL:0000893 https://orcid.org/0000-0003-3691-0324 reduction in the number of immature T cells located in the thymus that are undergoing programmed cell death reduced thymocyte apoptosis MPheno.ontology MP:0009542 decreased thymocyte apoptosis MP:0009542 reduction in the number of immature T cells located in the thymus that are undergoing programmed cell death CL:0000893 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, dendritic cells, variable numbers of perivascular B-lymphocytes and plasma cells; site of entry of bone marrow stem cells and exit of mature, functional T cells abnormal thymic corticomedullary boundary morphology abnormal thymus CMZ morphology abnormal thymus cortico-medullary boundary abnormal thymus cortico-medullary junction abnormal thymus cortico-medullary zone abnormal thymus corticomedullary zone morphology MPheno.ontology MP:0009543 abnormal thymus corticomedullary boundary morphology MP:0009543 any structural anomaly of the dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, dendritic cells, variable numbers of perivascular B-lymphocytes and plasma cells; site of entry of bone marrow stem cells and exit of mature, functional T cells PMID:17067941 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the supporting framework of the thymus MPheno.ontology MP:0009544 abnormal thymus epithelium morphology MP:0009544 any structural anomaly of the supporting framework of the thymus PMID:17067941 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the more superficial, thin layer of the dermis that interdigitates with the epidermis MP:0001250 abnormal corpus papillary morphology abnormal papillary layer morphology abnormal stratum papillare corii morphology abnormal stratum papillare morphology abnormal superficial dermis morphology MPheno.ontology MP:0009545 abnormal dermis papillary layer morphology MP:0009545 any structural anomaly of the more superficial, thin layer of the dermis that interdigitates with the epidermis ISBN:0-683-40008-8 failure of nursing offspring to ingest milk as indicated by stomach content absence of milk in stomach absent milk spots MPheno.ontology MP:0009546 absent gastric milk in neonates MP:0009546 failure of nursing offspring to ingest milk as indicated by stomach content MGI:llw2 hematologic disorder in which an abnormally large number of erythrocytes are elliptical rather than the typical biconcave, disc shape cigar cells cigar-shaped erythrocytes oval-shaped erythrocytes ovalocytes MPheno.ontology MP:0009547 elliptocytosis MP:0009547 hematologic disorder in which an abnormally large number of erythrocytes are elliptical rather than the typical biconcave, disc shape MGI:llw2 any functional anomaly in the adhesion of one platelet to one or more other platelets via adhesion molecules abnormal blood platelet aggregation abnormal thrombocyte aggregation MPheno.ontology MP:0009548 abnormal platelet aggregation MP:0009548 any functional anomaly in the adhesion of one platelet to one or more other platelets via adhesion molecules GO:0070527 decrease in the ability of one platelet to one or more other platelets via adhesion molecules decreased thrombocyte aggregation impaired platelet aggregation reduced platelet aggregation MPheno.ontology decreased blood platelet aggregation MP:0009549 decreased platelet aggregation MP:0009549 decrease in the ability of one platelet to one or more other platelets via adhesion molecules GO:0070527 greater than the expected number of a malignant neoplasm of the urinary bladder, arising from epithelial cells, occurring in a specific population in a given time period MPheno.ontology urinary bladder carcinoma MP:0009550 increased urinary bladder carcinoma incidence MP:0009550 greater than the expected number of a malignant neoplasm of the urinary bladder, arising from epithelial cells, occurring in a specific population in a given time period https://orcid.org/0000-0002-6490-7723 greater than the expected number of a malignant neoplasm of the transitional epithelial layer of the urinary bladder, occurring in a specific population in a given time period MPheno.ontology urinary bladder transitional cell carcinoma MP:0009551 increased urinary bladder transitional cell carcinoma incidence MP:0009551 greater than the expected number of a malignant neoplasm of the transitional epithelial layer of the urinary bladder, occurring in a specific population in a given time period https://orcid.org/0000-0002-6490-7723 any impediment or blockage of the musculomembranous elastic bag serving as a storage place for urine cystis urinaria obstruction urocyst obstruction urocystis obstruction vesica obstruction vesica urinaria obstruction MPheno.ontology MP:0009552 urinary bladder obstruction MP:0009552 any impediment or blockage of the musculomembranous elastic bag serving as a storage place for urine https://orcid.org/0000-0002-6490-7723 an anomaly of the fleshy margins of the mouth resulting in the upper and lower lips being joined together into one structure adhesion of upper and lower lips fusion of upper and lower lips lip fusion MPheno.ontology MP:0009553 fused lips MP:0009553 an anomaly of the fleshy margins of the mouth resulting in the upper and lower lips being joined together into one structure MGI:mberry the form of pigment polymers in the hair follicle differs compared to controls MPheno.ontology MP:0009554 abnormal hair follicle melanin granule shape MP:0009554 the form of pigment polymers in the hair follicle differs compared to controls MGI:llw2 anomaly in the spatial arrangement of particles produced by melanocytes that confer color in the hair follicle MPheno.ontology MP:0009555 abnormal hair follicle melanin granule distribution MP:0009555 anomaly in the spatial arrangement of particles produced by melanocytes that confer color in the hair follicle MGI:llw2 anomaly in the amount of the major energy source adenosine diphosphate produced by dense bodies located in platelets abnormal platelet adenosine diphosphate level MPheno.ontology MP:0009556 abnormal platelet ADP level MP:0009556 anomaly in the amount of the major energy source adenosine diphosphate produced by dense bodies located in platelets MGI:mberry reduced concentration of the major energy source adenosine diphosphate produced by dense bodies located in platelets decreased platelet adenosine diphosphate level reduced platelet ADP level MPheno.ontology MP:0009557 decreased platelet ADP level MP:0009557 reduced concentration of the major energy source adenosine diphosphate produced by dense bodies located in platelets MGI:mberry increased concentration of the major energy source adenosine diphosphate produced by dense bodies located in platelets increased platelet adenosine diphosphate level MPheno.ontology MP:0009558 increased platelet ADP level MP:0009558 increased concentration of the major energy source adenosine diphosphate produced by dense bodies located in platelets MGI:mberry increase in the number of normal cells in normal arrangement in the thymus cortex, typically resulting in increased size hyperplasia of thymic cortex hyperplastic thymus cortex increased cellularity of thymic cortex increased thymic cortex cellularity thymic cortex hyperplasia MPheno.ontology MP:0009559 thymus cortex hyperplasia MP:0009559 increase in the number of normal cells in normal arrangement in the thymus cortex, typically resulting in increased size ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 absence of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis absent epidermal granular layer absent granular layer absent stratum granulosum MPheno.ontology MP:0009560 absent epidermis stratum granulosum MP:0009560 absence of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis ISBN:0-683-40008-8 retrogressive pathological change or loss of the largest group of paravertebral ganglia of the sympathetic trunk which normally lies at the base of the skull and innervates the head and neck degeneration of ganglion cervicale superius MPheno.ontology MP:0009561 superior cervical ganglion degeneration MP:0009561 retrogressive pathological change or loss of the largest group of paravertebral ganglia of the sympathetic trunk which normally lies at the base of the skull and innervates the head and neck https://orcid.org/0000-0002-6490-7723 altered ability or failure of the olfactory receptor neurons to adapt to ambient conditions by time-dependent modification in the sensitivity to a given odorant stimulus, as seen in the decline of the sensory response during prolonged odor stimulation; a major mechanism for the rapid calcium-calmodulin-mediated desensitization of the CNG channel abnormal odorant-dependent adaptation abnormal odour adaptation abnormal odourant-dependent adaptation impaired odor adaptation impaired odour adaptation MPheno.ontology MP:0009562 abnormal odor adaptation MP:0009562 altered ability or failure of the olfactory receptor neurons to adapt to ambient conditions by time-dependent modification in the sensitivity to a given odorant stimulus, as seen in the decline of the sensory response during prolonged odor stimulation; a major mechanism for the rapid calcium-calmodulin-mediated desensitization of the CNG channel https://orcid.org/0000-0002-6490-7723 premature keratinization in individual epithelial cells that have not reached the keratinizing surface layer; dyskeratotic cells generally become rounded and they may break away from adjacent cells and fall off MPheno.ontology MP:0009563 dyskeratosis MP:0009563 premature keratinization in individual epithelial cells that have not reached the keratinizing surface layer; dyskeratotic cells generally become rounded and they may break away from adjacent cells and fall off ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 uncharacteristic chromosome arrangement produced by anomalous chromosome pairing and chiasma formation from prophase to metaphase of meiosis I due to abnormal chromosome structure and necessary to produce functional gametes MPheno.ontology MP:0009564 abnormal meiotic configurations MP:0009564 uncharacteristic chromosome arrangement produced by anomalous chromosome pairing and chiasma formation from prophase to metaphase of meiosis I due to abnormal chromosome structure and necessary to produce functional gametes MGI:llw2 any association of more than two completely or partially homologous chromosomes whose homologous regions are held together by pairing and chiasma formation from prophase to metaphase of meiosis I MPheno.ontology MP:0009565 multivalent meiotic configurations MP:0009565 any association of more than two completely or partially homologous chromosomes whose homologous regions are held together by pairing and chiasma formation from prophase to metaphase of meiosis I MGI:llw2 failure of homologous chromosomes to separate to the cell poles at anaphase MPheno.ontology MP:0009566 meiotic nondisjunction MP:0009566 failure of homologous chromosomes to separate to the cell poles at anaphase MGI:llw2 failure of sister-chromatids to separate to the cell poles at anaphase MPheno.ontology MP:0009567 mitotic nondisjunction MP:0009567 failure of sister-chromatids to separate to the cell poles at anaphase MGI:llw2 a measure (DImax) related to cell surface area, of the changeability of the membrane of circulating oxygen transporting cells as a function of physiologically relevant osmolality at a constant applied shear stress abnormal RBC deformability MPheno.ontology MP:0009568 abnormal red blood cell deformability MP:0009568 a measure (DImax) related to cell surface area, of the changeability of the membrane of circulating oxygen transporting cells as a function of physiologically relevant osmolality at a constant applied shear stress MGI:llw2 any structural anomaly of the organ of respiration located on the left side of the body MPheno.ontology MP:0009569 abnormal left lung morphology MP:0009569 any structural anomaly of the organ of respiration located on the left side of the body https://orcid.org/0000-0003-4606-0597 any structural anomaly of the part of the organ of respiration located on the right side of the body and consists of the caudal, cranial, middle and accessory lobes MPheno.ontology MP:0009570 abnormal right lung morphology MP:0009570 any structural anomaly of the part of the organ of respiration located on the right side of the body and consists of the caudal, cranial, middle and accessory lobes https://orcid.org/0000-0003-4606-0597 any structural anomaly of the right lung lobe which lies against the diaphragm and has a considerable volume residing in the left hemi-thorax abnormal right lung cardiac lobe morphology abnormal right lung infracardiac lobe morphology abnormal right lung median lobe morphology abnormal right lung postcaval lobe morphology MPheno.ontology MP:0009571 The accessory lobe is not seen in all mammalian species. It is present in rodents and is absent in human. abnormal right lung accessory lobe morphology MP:0009571 any structural anomaly of the right lung lobe which lies against the diaphragm and has a considerable volume residing in the left hemi-thorax ISBN:0486631850 PMID:2050021 any structural anomaly of the upper lobe of the right lung abnormal right lung anterior lobe morphology abnormal right lung superior lobe morphology MPheno.ontology MP:0009572 abnormal right lung cranial lobe morphology MP:0009572 any structural anomaly of the upper lobe of the right lung https://doi.org/10.1016/B978-0-323-79547-0.00010-2 any structural anomaly of the medial lobe of the right lung abnormal right lung medial lobe morphology MPheno.ontology MP:0009573 abnormal right lung middle lobe morphology MP:0009573 any structural anomaly of the medial lobe of the right lung https://doi.org/10.1016/B978-0-323-79547-0.00010-2 any structural anomaly of the lower lobe of the right lung abnormal right lung inferior lobe morphology abnormal right lung posterior lobe morphology MPheno.ontology MP:0009574 abnormal right lung caudal lobe morphology MP:0009574 any structural anomaly of the lower lobe of the right lung https://doi.org/10.1016/B978-0-323-79547-0.00010-2 any structural anomaly of the firm fibrocartilaginous joint in the median plane between the two opposing surfaces of the pubic bones, which are united by an interpubic disc of fibrocartilage as well as the superior and arcuate pubic ligaments MPheno.ontology abnormal symphysis pubica abnormal symphysis pubis MP:0009575 abnormal pubic symphysis morphology MP:0009575 any structural anomaly of the firm fibrocartilaginous joint in the median plane between the two opposing surfaces of the pubic bones, which are united by an interpubic disc of fibrocartilage as well as the superior and arcuate pubic ligaments https://orcid.org/0000-0002-6490-7723 congenital blockage, fusion, or absence of the normal opening of the oral cavity atresia oris congenital atresia of the mouth mouth atresia oral fusion MPheno.ontology MP:0009576 oral atresia MP:0009576 congenital blockage, fusion, or absence of the normal opening of the oral cavity https://orcid.org/0000-0002-6490-7723 any anomaly in the process by which existing vessels are reorganized during development MPheno.ontology MP:0009577 abnormal developmental vascular remodeling MP:0009577 any anomaly in the process by which existing vessels are reorganized during development https://orcid.org/0000-0003-4606-0597 a structural anomaly of the head consisting of absence or malformation of the lower jaw and the ears united or closely approaching below the face MPheno.ontology MP:0009578 otocephaly MP:0009578 a structural anomaly of the head consisting of absence or malformation of the lower jaw and the ears united or closely approaching below the face ISBN:0-683-40008-8 congenital absence of the head absence of the head absent head acephalia acephalism MPheno.ontology MP:0009579 acephaly MP:0009579 congenital absence of the head ISBN:0-683-40008-8 increase in the number of keratinocytes undergoing programmed cell death MPheno.ontology MP:0009580 increased keratinocyte apoptosis MP:0009580 increase in the number of keratinocytes undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 reduction in the number of keratinocytes undergoing programmed cell death reduced keratinocyte apoptosis MPheno.ontology MP:0009581 decreased keratinocyte apoptosis MP:0009581 reduction in the number of keratinocytes undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 anomaly in the ability of keratinocytes to undergo expansion by cell division MPheno.ontology MP:0009582 abnormal keratinocyte proliferation MP:0009582 anomaly in the ability of keratinocytes to undergo expansion by cell division https://orcid.org/0000-0002-6490-7723 increase in the expansion rate of keratinocytes by cell division MPheno.ontology MP:0009583 increased keratinocyte proliferation MP:0009583 increase in the expansion rate of keratinocytes by cell division https://orcid.org/0000-0002-6490-7723 reduction in the expansion rate of keratinocytes by cell division reduced keratinocyte proliferation MPheno.ontology MP:0009584 decreased keratinocyte proliferation MP:0009584 reduction in the expansion rate of keratinocytes by cell division https://orcid.org/0000-0002-6490-7723 OBSOLETE. formation of bone at an abnormal site or in an atypical tissue, usually outside its normal location MP:0014167 ectopic bone development heterotopic bone formation MPheno.ontology MP:0009585 obsolete ectopic bone formation true MP:0009585 OBSOLETE. formation of bone at an abnormal site or in an atypical tissue, usually outside its normal location https://orcid.org/0000-0002-6490-7723 increase in the ability of one platelet to one or more other platelets via adhesion molecules increased blood platelet aggregation increased thrombocyte aggregation MPheno.ontology MP:0009586 increased platelet aggregation MP:0009586 increase in the ability of one platelet to one or more other platelets via adhesion molecules https://orcid.org/0000-0003-4606-0597 altered amounts of the phospholipids found especially in, but not limited to, the cell membrane of nerve tissue that yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis MPheno.ontology MP:0009587 abnormal plasma membrane sphingolipid content MP:0009587 altered amounts of the phospholipids found especially in, but not limited to, the cell membrane of nerve tissue that yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis MGI:llw2 abnormal accumulation of the phospolipids found especially in, but not limited to, the cell membrane of nerve tissue that yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis MPheno.ontology MP:0009588 increased plasma membrane sphingolipid content MP:0009588 abnormal accumulation of the phospolipids found especially in, but not limited to, the cell membrane of nerve tissue that yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis MGI:llw2 the abnormal accumulation of sphingomyelin in the plasma membrane of cells of the nervous tissue, liver and spleen, usually due to sphingomyelinase deficiency sphingolipidosis sphingolipodystrophy sphingomyelin lipidosis MPheno.ontology MP:0009589 sphingomyelinosis MP:0009589 the abnormal accumulation of sphingomyelin in the plasma membrane of cells of the nervous tissue, liver and spleen, usually due to sphingomyelinase deficiency MGI:llw2 greater than the expected number of an abnormal rapidly proliferating cells in the testis or ovary, usually in the form of a distinct mass, occurring in a specific population in a given time period increased gonad tumour incidence MPheno.ontology gonad tumor gonad tumour MP:0009590 increased gonad tumor incidence MP:0009590 greater than the expected number of an abnormal rapidly proliferating cells in the testis or ovary, usually in the form of a distinct mass, occurring in a specific population in a given time period https://orcid.org/0000-0002-6490-7723 greater than the expected number of a malignant neoplasm of epithelial cells in the liver, occurring in a specific population in a given time period MPheno.ontology hepatic adenocarcinoma liver adenocarcinoma MP:0009591 increased liver adenocarcinoma incidence MP:0009591 greater than the expected number of a malignant neoplasm of epithelial cells in the liver, occurring in a specific population in a given time period https://orcid.org/0000-0002-6490-7723 greater than the expected number of rare testicular tumors of the male gonadal interstitium, occurring in a specific population in a given time period; Leydig cell tumors are frequently hormonally active, leading to feminizing or virilizing syndromes; Leydig cell tumors comprise 1-3% of all testicular neoplasms, can be pure or mixed with other sex cord-stromal or germ cell tumors, and are usually benign, although malignant variants also occur increased Leydig cell tumour incidence MPheno.ontology Leydig cell tumor Leydig cell tumour interstitial cell tumor of testis interstitial cell tumour of testis MP:0009592 increased Leydig cell tumor incidence MP:0009592 greater than the expected number of rare testicular tumors of the male gonadal interstitium, occurring in a specific population in a given time period; Leydig cell tumors are frequently hormonally active, leading to feminizing or virilizing syndromes; Leydig cell tumors comprise 1-3% of all testicular neoplasms, can be pure or mixed with other sex cord-stromal or germ cell tumors, and are usually benign, although malignant variants also occur https://orcid.org/0000-0002-6490-7723 absence of the outermost extraembryonic membrane absent membrana serosa MPheno.ontology MP:0009593 absent chorion MP:0009593 absence of the outermost extraembryonic membrane https://orcid.org/0000-0002-6490-7723 any structural anomaly of the electron-dense layer of highly transglutaminase cross-linked protein that is deposited on the inner surface of the plasma membrane of corneocytes in the outermost layers of the epidermis; a monomolecular layer of ceramides is covalently attached to the outer surface of the CE to form a hydrophobic lipid envelope that covers each corneocyte and provides continuity with the lipid matrix abnormal cornified envelope morphology abnormal subplasmalemmal dense zone MPheno.ontology MP:0009594 abnormal corneocyte envelope morphology MP:0009594 any structural anomaly of the electron-dense layer of highly transglutaminase cross-linked protein that is deposited on the inner surface of the plasma membrane of corneocytes in the outermost layers of the epidermis; a monomolecular layer of ceramides is covalently attached to the outer surface of the CE to form a hydrophobic lipid envelope that covers each corneocyte and provides continuity with the lipid matrix https://orcid.org/0000-0002-6490-7723 increased size of the electron-dense layer of highly transglutaminase cross-linked protein that is deposited on the inner surface of the plasma membrane of corneocytes in the outermost layers of the epidermis enlarged cornified envelope enlarged subplasmalemmal dense zone increased corneocyte envelope size MPheno.ontology MP:0009595 enlarged corneocyte envelope MP:0009595 increased size of the electron-dense layer of highly transglutaminase cross-linked protein that is deposited on the inner surface of the plasma membrane of corneocytes in the outermost layers of the epidermis https://orcid.org/0000-0002-6490-7723 altered lipid composition or intercellular lipid matrix assembly in the stratum corneum, usually resulting in loss of epidermal barrier function; normally, the intercorneocyte lipid matrix consists of a complex lipid mixture of ceramides, cholesterol and long-chain saturated fatty acids that self-assembles into an ordered multilayer structure known as lipid lamellae abnormal intercorneocyte lamellar lipids abnormal intercorneocyte lipid lamellae abnormal stratum corneum extracellular lipid matrix defective epidermal lipid matrix composition epidermal lipid matrix defects MPheno.ontology MP:0009596 abnormal stratum corneum lipid matrix formation MP:0009596 altered lipid composition or intercellular lipid matrix assembly in the stratum corneum, usually resulting in loss of epidermal barrier function; normally, the intercorneocyte lipid matrix consists of a complex lipid mixture of ceramides, cholesterol and long-chain saturated fatty acids that self-assembles into an ordered multilayer structure known as lipid lamellae https://orcid.org/0000-0002-6490-7723 dysregulated shedding of the outermost layer of corneocytes, affecting the integrity and thickness of the stratum corneum; may result in xerotic and ichthyotic conditions abnormal corneocyte desquamation impaired corneocyte shedding MPheno.ontology MP:0009597 impaired stratum corneum desquamation MP:0009597 dysregulated shedding of the outermost layer of corneocytes, affecting the integrity and thickness of the stratum corneum; may result in xerotic and ichthyotic conditions https://orcid.org/0000-0002-6490-7723 decreased thickness of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis thin epidermal granular layer thin granular layer thin stratum granulosum MPheno.ontology MP:0009598 thin epidermis stratum granulosum MP:0009598 decreased thickness of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis ISBN:0-683-40008-8 increased thickness of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis thick epidermal granular layer thick granular layer thick stratum granulosum MPheno.ontology MP:0009599 thick epidermis stratum granulosum MP:0009599 increased thickness of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis ISBN:0-683-40008-8 increased thickness of the granular layer of the epidermis MPheno.ontology MP:0009600 hypergranulosis MP:0009600 increased thickness of the granular layer of the epidermis ISBN:0-683-40008-8 increase in the number of normal cells in normal arrangement in the epidermal stratum granulosum, typically resulting in increased size epidermal granular layer hyperplasia granular layer hyperplasia hyperplastic epidermal stratum granulosum stratum granulosum hyperplasia MPheno.ontology MP:0009601 epidermis stratum granulosum hyperplasia MP:0009601 increase in the number of normal cells in normal arrangement in the epidermal stratum granulosum, typically resulting in increased size ISBN:0-683-40008-8 any structural anomaly of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function abnormal keratohyaline granule morphology MPheno.ontology MP:0009602 abnormal keratohyalin granule morphology MP:0009602 any structural anomaly of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 absence of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function absent keratohyaline granules MPheno.ontology MP:0009603 absent keratohyalin granules MP:0009603 absence of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 increased number of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function increased keratohyaline granule number MPheno.ontology MP:0009604 increased keratohyalin granule number MP:0009604 increased number of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 reduced number of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function decreased keratohyaline granule number reduced keratohyalin granule number reduced keratohyaline granule number MPheno.ontology MP:0009605 decreased keratohyalin granule number MP:0009605 reduced number of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 increased size of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function increased keratohyaline granule size MPheno.ontology MP:0009606 increased keratohyalin granule size MP:0009606 increased size of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 reduced size of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function decreased keratohyaline granule size reduced keratohyalin granule size reduced keratohyaline granule size MPheno.ontology MP:0009607 decreased keratohyalin granule size MP:0009607 reduced size of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of a membrane-bounded organelle present in the epidermis, specialized for the storage and secretion of various substances (such as glycoproteins and acid phosphates), and which are arranged in the form of tightly packed, concentric, membrane sheets or lamellae abnormal Odland body morphology abnormal keratinosome morphology abnormal lamellar body morphology abnormal lamellar granule morphology abnormal skin lamellar body morphology MPheno.ontology abnormal membrane-coating granule morphology MP:0009608 The name includes epidermal to distinguish it from lung alveolar cell lamellar bodies. abnormal epidermal lamellar body morphology MP:0009608 any structural anomaly of a membrane-bounded organelle present in the epidermis, specialized for the storage and secretion of various substances (such as glycoproteins and acid phosphates), and which are arranged in the form of tightly packed, concentric, membrane sheets or lamellae GO:0042599 absence of the basilar process of the occipital bone in the base of the cranium, frequently forming a direct part of the occipital in the adult, but usually distinct in the young MPheno.ontology MP:0009609 absent basioccipital bone MP:0009609 absence of the basilar process of the occipital bone in the base of the cranium, frequently forming a direct part of the occipital in the adult, but usually distinct in the young ISBN:0-683-40008-8 any structural anomaly of the layer of lightly staining corneocytes foud between the stratum granulosum and stratum corneum layers; found primarily in the thick epidermis of the palmar and plantar skin and is composed of three to five layers of dead, flattened keratinocytes MP:0005082 abnormal clear layer morphology abnormal stratum lucidum MPheno.ontology MP:0009610 abnormal epidermis stratum lucidum morphology MP:0009610 any structural anomaly of the layer of lightly staining corneocytes foud between the stratum granulosum and stratum corneum layers; found primarily in the thick epidermis of the palmar and plantar skin and is composed of three to five layers of dead, flattened keratinocytes ISBN:0-683-40008-8 increase in the number of normal cells in normal arrangement in the epidermis stratum spinosum, typically resulting in increased size hyperplastic epidermal stratum spinosum prickle cell layer hyperplasia spinous layer hyperplasia MPheno.ontology stratum spinosum hyperplasia MP:0009611 epidermis stratum spinosum hyperplasia MP:0009611 increase in the number of normal cells in normal arrangement in the epidermis stratum spinosum, typically resulting in increased size ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 increased thickness of the suprabasal layer of the epidermis MPheno.ontology MP:0009612 thick epidermis suprabasal layer MP:0009612 increased thickness of the suprabasal layer of the epidermis https://orcid.org/0000-0003-3691-0324 decreased thickness of the suprabasal layer of the epidermis MPheno.ontology MP:0009613 thin epidermis suprabasal layer MP:0009613 decreased thickness of the suprabasal layer of the epidermis https://orcid.org/0000-0003-3691-0324 absence of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance absent prickle cell layer absent spinous layer absent stratum spinosum MPheno.ontology MP:0009614 absent epidermis stratum spinosum MP:0009614 absence of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance ISBN:0-683-40008-8 anomaly in the processes involved in the maintenance of an internal equilibrium of zinc that normally is a cofactor in many proteins MPheno.ontology MP:0009615 abnormal zinc homeostasis MP:0009615 anomaly in the processes involved in the maintenance of an internal equilibrium of zinc that normally is a cofactor in many proteins https://orcid.org/0000-0002-6490-7723 any anomaly in the amount of zinc present in mammalian brain tissue, where 5-15 percent of total zinc is concentrated in synaptic vesicles in a subset of glutamatergic neurons; histochemically reactive zinc is present in many regions of the central nervous system and is especially abundant in the hippocampus MPheno.ontology MP:0009616 abnormal brain zinc level MP:0009616 any anomaly in the amount of zinc present in mammalian brain tissue, where 5-15 percent of total zinc is concentrated in synaptic vesicles in a subset of glutamatergic neurons; histochemically reactive zinc is present in many regions of the central nervous system and is especially abundant in the hippocampus https://orcid.org/0000-0002-6490-7723 reduction in the amount of zinc present in the brain tissue reduced brain zinc level MPheno.ontology MP:0009617 decreased brain zinc level MP:0009617 reduction in the amount of zinc present in the brain tissue https://orcid.org/0000-0002-6490-7723 increase in the amount of zinc present in the brain tissue MPheno.ontology MP:0009618 increased brain zinc level MP:0009618 increase in the amount of zinc present in the brain tissue https://orcid.org/0000-0002-6490-7723 any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement; normally, this reflex functions to stabilize a moving image on the retina abnormal OKR MPheno.ontology MP:0009619 abnormal optokinetic reflex MP:0009619 any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement; normally, this reflex functions to stabilize a moving image on the retina https://orcid.org/0000-0003-4606-0597 any structural anomaly in the fibrovascular mesodermal tissue located between the optic cup and lens vesicle that normally regresses during the development of the vitreous body MPheno.ontology MP:0009620 abnormal primary vitreous morphology MP:0009620 any structural anomaly in the fibrovascular mesodermal tissue located between the optic cup and lens vesicle that normally regresses during the development of the vitreous body https://orcid.org/0000-0003-4606-0597 increase in the number of normal cells in normal arrangement in the primary vitreous, typically resulting in increased size hyperplastic primary vitreous MPheno.ontology MP:0009621 primary vitreous hyperplasia MP:0009621 increase in the number of normal cells in normal arrangement in the primary vitreous, typically resulting in increased size https://orcid.org/0000-0003-4606-0597 absence of the lymph nodes normally located in the groin area MPheno.ontology MP:0009622 absent inguinal lymph nodes MP:0009622 absence of the lymph nodes normally located in the groin area https://orcid.org/0000-0002-6490-7723 increased size of the lymph nodes located in the groin area increased inguinal lymph node size MPheno.ontology MP:0009623 enlarged inguinal lymph nodes MP:0009623 increased size of the lymph nodes located in the groin area https://orcid.org/0000-0002-6490-7723 reduced size of the lymph nodes located in the groin area decreased inguinal lymph node size reduced inguinal lymph nodes MPheno.ontology MP:0009624 small inguinal lymph nodes MP:0009624 reduced size of the lymph nodes located in the groin area https://orcid.org/0000-0002-6490-7723 any structural anomaly of the visceral glands that are located in the abdomen MPheno.ontology MP:0009625 abnormal abdominal lymph node morphology MP:0009625 any structural anomaly of the visceral glands that are located in the abdomen https://orcid.org/0000-0003-3691-0324 any structural anomaly of the visceral glands that are associated with the branches of the celiac artery, including the gastric, hepatic, and pancreaticolienal (splenic) lymph nodes abnormal coeliac lymph node morphology MPheno.ontology MP:0009626 abnormal celiac lymph node morphology MP:0009626 any structural anomaly of the visceral glands that are associated with the branches of the celiac artery, including the gastric, hepatic, and pancreaticolienal (splenic) lymph nodes https://orcid.org/0000-0003-3691-0324 any structural anomaly of the lymph nodes located below the mandible in the submandibular triangle that collect lymph from the cheeks, the lateral aspects of the nose, upper lip, lateral parts of the lower lip, gums and the anterior tongue; they also receive lymph from the submental and facial lymph nodes MPheno.ontology MP:0009627 abnormal submandibular lymph node morphology MP:0009627 any structural anomaly of the lymph nodes located below the mandible in the submandibular triangle that collect lymph from the cheeks, the lateral aspects of the nose, upper lip, lateral parts of the lower lip, gums and the anterior tongue; they also receive lymph from the submental and facial lymph nodes https://teachmeanatomy.info/neck/vessels/lymphatics/ absence of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes absent humeral axillary lymph nodes MPheno.ontology MP:0009628 absent brachial lymph nodes MP:0009628 absence of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 reduced size of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes reduced brachial lymph node size reduced humeral axillary lymph node size small humeral axillary lymph nodes MPheno.ontology MP:0009629 small brachial lymph nodes MP:0009629 reduced size of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 absence of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region MPheno.ontology MP:0009630 absent axillary lymph nodes MP:0009630 absence of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 increased size of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region increased axillary lymph node size MPheno.ontology MP:0009631 enlarged axillary lymph nodes MP:0009631 increased size of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 reduced size of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region reduced axillary lymph node size MPheno.ontology MP:0009632 small axillary lymph nodes MP:0009632 reduced size of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 absence of the lymph nodes normally found near the neck and shoulders MPheno.ontology MP:0009633 absent cervical lymph nodes MP:0009633 absence of the lymph nodes normally found near the neck and shoulders https://orcid.org/0000-0002-6490-7723 absence of the lymph nodes which drain the legs MPheno.ontology MP:0009634 absent popliteal lymph nodes MP:0009634 absence of the lymph nodes which drain the legs https://orcid.org/0000-0002-6490-7723 increased size of the lymph nodes which drain the legs increased popliteal lymph node size MPheno.ontology MP:0009635 enlarged popliteal lymph nodes MP:0009635 increased size of the lymph nodes which drain the legs https://orcid.org/0000-0002-6490-7723 reduced size of the lymph nodes which drain the legs decreased popliteal lymph node size reduced popliteal lymph node size MPheno.ontology MP:0009636 small popliteal lymph nodes MP:0009636 reduced size of the lymph nodes which drain the legs https://orcid.org/0000-0002-6490-7723 any structural anomaly of a narrow, transversely oriented rostral zone of the mesencephalic tectum, bounded caudally by the superior colliculus, rostrally by the habenular trigone, and laterally by the pulvinar thalami; the pretectal area contains several nuclei that receive fibers from the optic tract; it has bilateral efferent connections with the Edinger-Westphal nucleus of the oculomotor nuclear complex by way of which it mediates the pupillary light reflex abnormal PRT morphology abnormal pretectal area morphology abnormal pretectum morphology MPheno.ontology MP:0009637 abnormal pretectal region morphology MP:0009637 any structural anomaly of a narrow, transversely oriented rostral zone of the mesencephalic tectum, bounded caudally by the superior colliculus, rostrally by the habenular trigone, and laterally by the pulvinar thalami; the pretectal area contains several nuclei that receive fibers from the optic tract; it has bilateral efferent connections with the Edinger-Westphal nucleus of the oculomotor nuclear complex by way of which it mediates the pupillary light reflex ISBN:0-683-40008-8 any structural anomaly of the groups of neurons located between the thalamus and midbrain that receive binocular sensory input from retinal ganglion cells of the eyes and are responsible for maintaining the pupillary light reflex MPheno.ontology MP:0009638 abnormal pretectal nuclei morphology MP:0009638 any structural anomaly of the groups of neurons located between the thalamus and midbrain that receive binocular sensory input from retinal ganglion cells of the eyes and are responsible for maintaining the pupillary light reflex MGI:llw2 any structural anomaly of one of several pretectal nuclei with direct input from the eye and the only one containing neurons whose rate of firing is linearly related to the intensity of light falling on the retina MPheno.ontology MP:0009639 abnormal olivary pretectal nucleus morphology MP:0009639 any structural anomaly of one of several pretectal nuclei with direct input from the eye and the only one containing neurons whose rate of firing is linearly related to the intensity of light falling on the retina MGI:llw2 any structural anomaly of the cellular avascular layer of the renal tubule luminar surfaces MA:0001681 abnormal kidney tubule epithelium morphology MPheno.ontology MP:0009640 abnormal renal tubule epithelium morphology MP:0009640 any structural anomaly of the cellular avascular layer of the renal tubule luminar surfaces https://orcid.org/0000-0003-3691-0324 a retrogressive impairment of function or destruction of either or both of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine renal degeneration MPheno.ontology MP:0009641 kidney degeneration MP:0009641 a retrogressive impairment of function or destruction of either or both of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine https://orcid.org/0000-0003-3691-0324 anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood MP:0000179 MP:0001546 abnormal blood chemistry blood chemistry abnormalities MPheno.ontology MP:0009642 abnormal blood homeostasis MP:0009642 anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 anomaly in the processes involved in the maintenance of an internal equilibrium of the various chemical or protein components of the urine MP:0001757 MP:0005427 MP:0005555 abnormal kidney excretion abnormal renal excretion abnormal urinalysis abnormal urine chemistry MPheno.ontology MP:0009643 abnormal urine homeostasis MP:0009643 anomaly in the processes involved in the maintenance of an internal equilibrium of the various chemical or protein components of the urine ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 an excess of urea, creatinine, and other nitrogenous end products of protein and amino acid metabolism in the blood; usually indicative of kidney dysfunction azotaemia azotemia uraemia MPheno.ontology MP:0009644 uremia MP:0009644 an excess of urea, creatinine, and other nitrogenous end products of protein and amino acid metabolism in the blood; usually indicative of kidney dysfunction ISBN:0-683-40008-8 excretion of crystalline material in the urine MPheno.ontology MP:0009645 crystalluria MP:0009645 excretion of crystalline material in the urine ISBN:0-683-40008-8 local accumulation of fluid, plasma proteins, and leukocytes in the urinary bladder cystitis MPheno.ontology MP:0009646 urinary bladder inflammation MP:0009646 local accumulation of fluid, plasma proteins, and leukocytes in the urinary bladder https://orcid.org/0000-0003-3691-0324 the number of secondary oocytes each penetrated by a spermatozoon followed by fusion of the male and female pronuclei are fewer than expected MPheno.ontology MP:0009647 decreased fertilization frequency MP:0009647 the number of secondary oocytes each penetrated by a spermatozoon followed by fusion of the male and female pronuclei are fewer than expected MGI:llw2 altered ability of a female to be induced to ovulate an expected number of ova after treatment with specific gonadotrophic hormones MPheno.ontology MP:0009648 abnormal superovulation MP:0009648 altered ability of a female to be induced to ovulate an expected number of ova after treatment with specific gonadotrophic hormones MGI:llw2 any lag in the normal time course necessary for the attachment of the blastocyst to the endometrium MPheno.ontology MP:0009649 delayed embryo implantation MP:0009649 any lag in the normal time course necessary for the attachment of the blastocyst to the endometrium ISBN:0198542771 MGI:llw2 PMID:10882512 blastocysts sometimes larger than normal in size, showing no development or mitotic activity as a result of delayed implantation MPheno.ontology MP:0009650 dormant blastocysts MP:0009650 blastocysts sometimes larger than normal in size, showing no development or mitotic activity as a result of delayed implantation ISBN:0198542771 MGI:llw2 aberrant formation of the skin folds covering the front of the eyeball abnormal blephara development abnormal blepharon development abnormal eye lid development abnormal palpebra development abnormal palpebrae development MPheno.ontology MP:0009651 abnormal eyelid development MP:0009651 aberrant formation of the skin folds covering the front of the eyeball https://orcid.org/0000-0003-4606-0597 any structural anomaly in the series of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species; rugae are present on each side of the median palatal raphe and behind the incisive papillae, but their number and arrangement are species specific; together with the teeth and the tongue, rugae take part in mastication by helping to sense, hold and mash the food; rugae harbor various types of intraepithelial sensory structures (such as Merckel cells, corpuscular endings and free nerve endings), and play a sensory role when the food is pressed by the tongue against the hard palate abnormal impressiones rugales morphology abnormal palatal ridge morphology abnormal palatine fold morphology abnormal palatine rugae morphology abnormal plica palatina transversa morphology abnormal plica palatinae transversae morphology abnormal plicae palatinae transversae morphology abnormal ruga of palate morphology abnormal ruga palatina morphology abnormal rugae of palate morphology abnormal rugae palatinae morphology abnormal transverse palatine fold morphology abnormal transverse palatine folds set abnormal transverse palatine ridge morphology MPheno.ontology MP:0009652 abnormal palatal rugae morphology MP:0009652 any structural anomaly in the series of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species; rugae are present on each side of the median palatal raphe and behind the incisive papillae, but their number and arrangement are species specific; together with the teeth and the tongue, rugae take part in mastication by helping to sense, hold and mash the food; rugae harbor various types of intraepithelial sensory structures (such as Merckel cells, corpuscular endings and free nerve endings), and play a sensory role when the food is pressed by the tongue against the hard palate PMID:19087265 https://orcid.org/0000-0002-6490-7723 abnormal formation of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) abnormal paletogenesis MPheno.ontology MP:0009653 abnormal palate development MP:0009653 abnormal formation of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) https://orcid.org/0000-0003-3691-0324 any anomaly in the formation of the part of the shelf separating the oral and nasal cavities that is formed during early embryonic development from the medial nasal processes which derive from the frontonasal process; these merge with each other and with the bilateral maxillary processes to form the upper lip and the primary palate abnormal primitive palate development MPheno.ontology abnormal primary palate primordia MP:0009654 abnormal primary palate development MP:0009654 any anomaly in the formation of the part of the shelf separating the oral and nasal cavities that is formed during early embryonic development from the medial nasal processes which derive from the frontonasal process; these merge with each other and with the bilateral maxillary processes to form the upper lip and the primary palate MGI:llw2 PMID:16942766 any anomaly in the formation of the part of the palate that is formed during embryonic development when palatal projections from the inner part of the maxillary processes emerge, extend and elevate into a horizontal position above the tongue MPheno.ontology MP:0009655 abnormal secondary palate development MP:0009655 any anomaly in the formation of the part of the palate that is formed during embryonic development when palatal projections from the inner part of the maxillary processes emerge, extend and elevate into a horizontal position above the tongue MGI:llw2 PMID:16942766 late onset of the initiation and/or completion of the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois retarded chorioallantoic fusion MPheno.ontology MP:0009656 delayed chorioallantoic fusion MP:0009656 late onset of the initiation and/or completion of the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois https://orcid.org/0000-0002-6490-7723 failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois chorioallantoic fusion failure MPheno.ontology MP:0009657 failure of chorioallantoic fusion MP:0009657 failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois https://orcid.org/0000-0002-6490-7723 increase in the number of cells of the placenta undergoing programmed cell death increased placental apoptosis MPheno.ontology MP:0009658 increased placenta apoptosis MP:0009658 increase in the number of cells of the placenta undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 hair or fur characterized by transverse, usually parallel, markings due to an anomaly in hair color, texture, or growth striped coat striped fur MPheno.ontology MP:0009659 striated fur MP:0009659 hair or fur characterized by transverse, usually parallel, markings due to an anomaly in hair color, texture, or growth MGI:llw2 any anomaly in the response to conditions which induce the pathological growth of vessels into the retina abnormal induced retinal neovascularization MPheno.ontology MP:0009660 abnormal induced retina neovascularization MP:0009660 any anomaly in the response to conditions which induce the pathological growth of vessels into the retina https://orcid.org/0000-0003-4606-0597 any anomaly in the process of maintaining a developing embryo or fetus within the female body from conception to birth MPheno.ontology MP:0009661 abnormal pregnancy MP:0009661 any anomaly in the process of maintaining a developing embryo or fetus within the female body from conception to birth ISBN:0198542771 MGI:llw2 any alteration in the time sensitive process of uterine differentiation that occurs in response to implantation competent blastocysts and precedes and is necessary for embryo implantation MPheno.ontology MP:0009662 abnormal uterine receptivity MP:0009662 any alteration in the time sensitive process of uterine differentiation that occurs in response to implantation competent blastocysts and precedes and is necessary for embryo implantation PMID:10882512 any anomaly in the process whereby the implantation chamber orients in the uterus in response to decidual growth to insure correct alignment of the embryo to the uterus MPheno.ontology MP:0009663 abnormal uterine-embryonic axis MP:0009663 any anomaly in the process whereby the implantation chamber orients in the uterus in response to decidual growth to insure correct alignment of the embryo to the uterus MGI:llw2 PMID:10882512 an anomaly in the degree to which (for each species) the uterine epithelium closes over and makes contact with, and secures an implanting blastocyst MPheno.ontology MP:0009664 abnormal luminal closure MP:0009664 an anomaly in the degree to which (for each species) the uterine epithelium closes over and makes contact with, and secures an implanting blastocyst MGI:llw2 PMID:10882512 any anomaly that prevents the initial positioning of the blastocyst trophoblast and uterine luminal epithelium causing the blastocyst to fail to orientate correctly along the uterine wall MPheno.ontology MP:0009665 abnormal embryo apposition MP:0009665 any anomaly that prevents the initial positioning of the blastocyst trophoblast and uterine luminal epithelium causing the blastocyst to fail to orientate correctly along the uterine wall MGI:llw2 PMID:10882512 any anomaly in the process whereby the blastocyst anchors to the uterine luminal epithelium and cannot be dislodged by flushing abnormal embryo adhesion MPheno.ontology MP:0009666 abnormal embryo attachment MP:0009666 any anomaly in the process whereby the blastocyst anchors to the uterine luminal epithelium and cannot be dislodged by flushing MGI:llw2 PMID:10882512 any anomaly in the process that enables the embryo to establish connection to the uterine luminal epithelium abnormal embryo penetration MPheno.ontology MP:0009667 abnormal embryo invasion MP:0009667 any anomaly in the process that enables the embryo to establish connection to the uterine luminal epithelium MGI:llw2 PMID:10882512 a fertilized egg attaches and begins development in a location other than in the inner lining of the uterus, most commonly in the Fallopian tube MPheno.ontology MP:0009668 ectopic pregnancy MP:0009668 a fertilized egg attaches and begins development in a location other than in the inner lining of the uterus, most commonly in the Fallopian tube MGI:llw2 PMID:10882512 failure of the uterus to undergo the changes necessary to support pregnancy following implantation of the embryo MPheno.ontology MP:0009669 abnormal postimplantation uterine environment MP:0009669 failure of the uterus to undergo the changes necessary to support pregnancy following implantation of the embryo MGI:llw2 PMID:10882512 any anomaly in vascular permeability and blood vessel development that normally occurs in the uterus to support embryonic growth during pregnancy MPheno.ontology MP:0009670 abnormal uterine angiogenesis MP:0009670 any anomaly in vascular permeability and blood vessel development that normally occurs in the uterus to support embryonic growth during pregnancy MGI:llw2 PMID:10882512 any functional anomaly of the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth abnormal uterine physiology MPheno.ontology MP:0009671 abnormal uterus physiology MP:0009671 any functional anomaly of the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth https://orcid.org/0000-0003-3691-0324 anomaly in average weight at birth compared to controls MPheno.ontology MP:0009672 abnormal birth weight MP:0009672 anomaly in average weight at birth compared to controls RGD:cur increase in average weight at birth compared to controls MPheno.ontology MP:0009673 increased birth weight MP:0009673 increase in average weight at birth compared to controls RGD:cur reduction in average weight at birth compared to controls reduced birth weight MPheno.ontology MP:0009674 decreased birth weight MP:0009674 reduction in average weight at birth compared to controls RGD:cur thickening of the stratum corneum of the epidermis (hyperkeratosis) with non-nucleated keratinocytes retained in this layer orthokeratotic hyperkeratosis MPheno.ontology MP:0009675 orthokeratosis MP:0009675 thickening of the stratum corneum of the epidermis (hyperkeratosis) with non-nucleated keratinocytes retained in this layer ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any anomaly in the spontaneous arrest of bleeding from vessels carrying blood under pressure or the arrest of circulation to an organ or part GO:0007599 abnormal haemostasia abnormal haemostasis abnormal hemostasia impaired haemostasis impaired hemostasis MPheno.ontology MP:0009676 abnormal hemostasis MP:0009676 any anomaly in the spontaneous arrest of bleeding from vessels carrying blood under pressure or the arrest of circulation to an organ or part MESH:G09.188.124.560 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the wedge-shaped fiber bundle of white matter in the dorsomedial side of the spinal cord that is made up of the fasciculus gracilis and fasciculus cuneatus; it is part of the ascending posterior column-medial lemniscus pathway that is important for well-localized fine touch and conscious proprioception MA:0002749 abnormal dorsal funiculus morphology abnormal posterior funiculus morphology abnormal spinal cord posterior column morphology MPheno.ontology MP:0009677 Note that the synonym posterior column may refer to either the grey matter dorsal horn or the white matter dorsal column in the spinal cord. abnormal spinal cord dorsal column morphology MP:0009677 any structural anomaly of the wedge-shaped fiber bundle of white matter in the dorsomedial side of the spinal cord that is made up of the fasciculus gracilis and fasciculus cuneatus; it is part of the ascending posterior column-medial lemniscus pathway that is important for well-localized fine touch and conscious proprioception ISBN-10:0940780577 ISBN:0-683-40008-8 any structural anomaly of the region of white matter of the spinal cord that is located between the dorsal and ventral spinal roots MA:0002750 abnormal anteriolateral column morphology abnormal lateral funiculus morphology MPheno.ontology MP:0009678 abnormal spinal cord lateral column morphology MP:0009678 any structural anomaly of the region of white matter of the spinal cord that is located between the dorsal and ventral spinal roots ISBN:0-683-40008-8 any structural anomaly of the area of white matter of the spinal cord located on either side of the ventral (anterior) medial fissure MA:0002751 MPheno.ontology abnormal anterior funiculus morphology abnormal ventral funiculus morphology MP:0009679 Note that the synonym anterior column may refer to either the grey matter ventral horn or the white matter ventral column in the spinal cord. abnormal spinal cord ventral column morphology MP:0009679 any structural anomaly of the area of white matter of the spinal cord located on either side of the ventral (anterior) medial fissure ISBN:0-683-40008-8 any structural anomaly of the longitudinal groove in the midline of the anterior aspect of the medulla oblongata abnormal anteriomedian groove morphology MPheno.ontology MP:0009680 abnormal medulla oblongata anterior median fissure morphology MP:0009680 any structural anomaly of the longitudinal groove in the midline of the anterior aspect of the medulla oblongata ISBN:0-683-40008-8 any structural anomaly of the bundles of pyramidal fibers that intercross obliquely over the midline at the lower border region of the medulla oblongata abnormal decussation of pyramids abnormal motor decussation morphology MPheno.ontology MP:0009681 abnormal pyramidal decussation morphology MP:0009681 any structural anomaly of the bundles of pyramidal fibers that intercross obliquely over the midline at the lower border region of the medulla oblongata ISBN:0-683-40008-8 any structural anomaly of the small bundle of corticospinal motor fibers that do not cross the midline at the pyramidal decussation and descend into the anterior funiculus of the spinal cord; the anterior corticospinal tract controls central axial and girdle muscles abnormal Turck bundle morphology abnormal Turck column morphology abnormal anterior cerebrospinal fasciculus morphology abnormal anterior pyramidal fasciculus morphology abnormal anterior pyramidal tract morphology abnormal direct pyramidal tract morphology abnormal medial corticospinal tract morphology abnormal ventral corticospinal tract morphology MPheno.ontology MP:0009682 abnormal anterior corticospinal tract morphology MP:0009682 any structural anomaly of the small bundle of corticospinal motor fibers that do not cross the midline at the pyramidal decussation and descend into the anterior funiculus of the spinal cord; the anterior corticospinal tract controls central axial and girdle muscles ISBN:0-683-40008-8 any structural anomaly of the large bundle of corticospinal motor fibers that cross the midline at the pyramidal decussation and descend in the dorsal half of the lateral funiculus; the lateral corticospinal tract controls movement of contralateral limbs abnormal crossed pyramidal tract morphology abnormal lateral cerebrospinal fasciculus morphology abnormal lateral pyramidal tract morphology MPheno.ontology MP:0009683 abnormal lateral corticospinal tract morphology MP:0009683 any structural anomaly of the large bundle of corticospinal motor fibers that cross the midline at the pyramidal decussation and descend in the dorsal half of the lateral funiculus; the lateral corticospinal tract controls movement of contralateral limbs ISBN:0-683-40008-8 any structural anomaly of the subclasses of motor neurons which innervate muscles in the limb; motor neurons in the lateral motor column are further organized into pools, each of which innervates a specific muscle in the limb MA:0001129 abnormal LMC morphology MPheno.ontology MP:0009684 abnormal spinal cord lateral motor column morphology MP:0009684 any structural anomaly of the subclasses of motor neurons which innervate muscles in the limb; motor neurons in the lateral motor column are further organized into pools, each of which innervates a specific muscle in the limb PMID:8895454 any structural anomaly of the subclasses of motor neurons which are organized into longitudinally oriented columns that occupy distinct and, in some cases, discontinuous domains along the rostrocaudal axis of the spinal cord; motor neurons within a single column send their axons to a common peripheral target MPheno.ontology MP:0009685 abnormal spinal cord motor column morphology MP:0009685 any structural anomaly of the subclasses of motor neurons which are organized into longitudinally oriented columns that occupy distinct and, in some cases, discontinuous domains along the rostrocaudal axis of the spinal cord; motor neurons within a single column send their axons to a common peripheral target PMID:8895454 any structural anomaly of the subclasses of motor neurons which project their axons to axial muscles that lie close to the vertebral column; motor neurons in the lateral subdivision of the MMC project their axons to body wall muscles abnormal MMC morphology MPheno.ontology MP:0009686 abnormal spinal cord medial motor column morphology MP:0009686 any structural anomaly of the subclasses of motor neurons which project their axons to axial muscles that lie close to the vertebral column; motor neurons in the lateral subdivision of the MMC project their axons to body wall muscles PMID:8895454 the implanted embryo normally covered opposite the placenta by uterine mucosa and epithelium following implantation is missing, suggesting the embryo died early during implantation but after the decidual response and modification of uterine stromal cells empty decidua MPheno.ontology MP:0009687 empty decidua capsularis MP:0009687 the implanted embryo normally covered opposite the placenta by uterine mucosa and epithelium following implantation is missing, suggesting the embryo died early during implantation but after the decidual response and modification of uterine stromal cells ISBN:0198542771 MGI:llw2 any structural anomaly of the ependyma-lined lumen of the spinal cord that is filled with cerebrospinal fluid; it is patent with the ventricular system of the brain and frequently becomes occluded in aging adults MPheno.ontology MP:0009688 abnormal spinal cord central canal morphology MP:0009688 any structural anomaly of the ependyma-lined lumen of the spinal cord that is filled with cerebrospinal fluid; it is patent with the ventricular system of the brain and frequently becomes occluded in aging adults ISBN:0-683-40008-8 any structural anomaly of the layer of undifferentiated, proliferating cells that line the neural tube lumen abnormal neural tube ependymal zone morphology MPheno.ontology abnormal neural tube ventricular zone morphology MP:0009689 abnormal neural tube ventricular layer morphology MP:0009689 any structural anomaly of the layer of undifferentiated, proliferating cells that line the neural tube lumen https://orcid.org/0000-0003-3691-0324 any structural anomaly of the layer of glia and differentiating neurons that will form the gray matter of the spinal cord; this lies between the ventricular and marginal layers and includes the basal and alar plates abnormal neural tube intermediate zone morphology abnormal neural tube mantle zone morphology MPheno.ontology MP:0009690 abnormal neural tube mantle layer morphology MP:0009690 any structural anomaly of the layer of glia and differentiating neurons that will form the gray matter of the spinal cord; this lies between the ventricular and marginal layers and includes the basal and alar plates https://orcid.org/0000-0003-3691-0324 any structural anomaly of the outermost layer of the neural tube that contains nerve fibers and will form the white matter abnormal neural tube marginal zone morphology MPheno.ontology MP:0009691 abnormal neural tube marginal layer morphology MP:0009691 any structural anomaly of the outermost layer of the neural tube that contains nerve fibers and will form the white matter https://orcid.org/0000-0003-3691-0324 any structural anomaly of the region of the mantle layer of the neural tube that lies dorsal to the sulcus limitans and contains primarily sensory neurons and interneurons involved in communication of sensory impulses; the alar plate develops into the dorsal horn in the grey matter of the spinal cord abnormal spinal cord alar column morphology abnormal spinal cord alar lamina morphology MPheno.ontology MP:0009692 abnormal spinal cord alar plate morphology MP:0009692 any structural anomaly of the region of the mantle layer of the neural tube that lies dorsal to the sulcus limitans and contains primarily sensory neurons and interneurons involved in communication of sensory impulses; the alar plate develops into the dorsal horn in the grey matter of the spinal cord https://orcid.org/0000-0003-3691-0324 any structural anomaly of the region of the mantle layer of the neural tube that lies ventral to the sulcus limitans and contains primarily motor neurons and interneurons abnormal spinal cord basal column morphology MPheno.ontology MP:0009693 abnormal spinal cord basal plate morphology MP:0009693 any structural anomaly of the region of the mantle layer of the neural tube that lies ventral to the sulcus limitans and contains primarily motor neurons and interneurons https://orcid.org/0000-0003-3691-0324 any structural anomaly of any of the nerve fiber tracts that span the midline of the spinal cord MPheno.ontology MP:0009694 abnormal spinal cord commissure morphology MP:0009694 any structural anomaly of any of the nerve fiber tracts that span the midline of the spinal cord ISBN:0-683-40008-8 any structural anomaly of the band of nerve fibers which cross the midline of the spinal cord ventral to the central canal and posterior grey commissure abnormal anterior white commissure abnormal spinal cord anterior commissure abnormal spinal cord anterior commissure morphology abnormal ventral spinal commissure morphology abnormal ventral white column morphology MPheno.ontology abnormal white commissure MP:0009695 abnormal spinal cord ventral commissure morphology MP:0009695 any structural anomaly of the band of nerve fibers which cross the midline of the spinal cord ventral to the central canal and posterior grey commissure ISBN:0-683-40008-8 any structural anomaly of the band of grey substance spanning the midline of the spinal cord that surrounds the central canal abnormal spinal cord gray commissure morphology abnormal posterior grey commissure MPheno.ontology abnormal anterior grey commissure MP:0009696 abnormal spinal cord grey commissure morphology MP:0009696 any structural anomaly of the band of grey substance spanning the midline of the spinal cord that surrounds the central canal ISBN:0-683-40008-8 any behavioral anomaly in the act of sexual union that normally enables the transfer of ejaculate (sperm) from male to female, sometimes resulting in the fertilization of an egg abnormal coital behavior abnormal coital behaviour abnormal coitus behavior abnormal coitus behaviour abnormal copulation behaviour abnormal copulatory behavior abnormal copulatory behaviour MPheno.ontology MP:0009697 abnormal copulation behavior MP:0009697 any behavioral anomaly in the act of sexual union that normally enables the transfer of ejaculate (sperm) from male to female, sometimes resulting in the fertilization of an egg GO:0007620 MGI:llw2 bleeding into the heart cardiac bleeding cardiac haemorrhage cardiac hemorrhage heart haemorrhage MPheno.ontology MP:0009698 heart hemorrhage MP:0009698 bleeding into the heart https://orcid.org/0000-0002-6490-7723 increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins hyperchylomicronaemia increased circulating chylomicron numbers increased plasma chylomicron levels increased serum chylomicron numbers MPheno.ontology MP:0009699 hyperchylomicronemia MP:0009699 increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins https://orcid.org/0000-0002-6490-7723 true MP:0009700 anomaly in average body size at birth compared to controls MP:0009700 abnormal birth weight/body size MPheno.ontology MP:0009701 abnormal birth body size MP:0009701 anomaly in average body size at birth compared to controls https://orcid.org/0000-0002-6490-7723 increase in average body size at birth compared to controls MPheno.ontology MP:0009702 increased birth body size MP:0009702 increase in average body size at birth compared to controls https://orcid.org/0000-0002-6490-7723 reduction in average body size at birth compared to controls reduced birth body size MPheno.ontology MP:0009703 decreased birth body size MP:0009703 reduction in average body size at birth compared to controls https://orcid.org/0000-0002-6490-7723 greater than the expected number of a skin carcinoma derived from stratified squamous epithelium, occurring in a specific population in a given time period MPheno.ontology skin squamous cell carcinoma MP:0009704 increased skin squamous cell carcinoma incidence MP:0009704 greater than the expected number of a skin carcinoma derived from stratified squamous epithelium, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 any structural anomaly of the portion of the embryonic gut between the foregut and the hindgut, which originally is open to the yolk sac midgut abnormalities MPheno.ontology midgut dysplasia MP:0009705 abnormal midgut morphology MP:0009705 any structural anomaly of the portion of the embryonic gut between the foregut and the hindgut, which originally is open to the yolk sac https://orcid.org/0000-0002-6490-7723 absence of the portion of the embryonic gut between the foregut and the hindgut MPheno.ontology missing midgut MP:0009706 absent midgut MP:0009706 absence of the portion of the embryonic gut between the foregut and the hindgut https://orcid.org/0000-0002-6490-7723 absence of the canal that connects the outer and middle ear absent external meatus MPheno.ontology external auditory canal atresia MP:0009707 absent external auditory canal MP:0009707 absence of the canal that connects the outer and middle ear https://orcid.org/0000-0002-6490-7723 a longitudinal or transverse congenital partition within the muscular canal extending from outside of the body to the cervix; usually caused by incomplete fusion of the Mullerian ducts in embryogenesis vaginal septa MPheno.ontology MP:0009708 vaginal septum MP:0009708 a longitudinal or transverse congenital partition within the muscular canal extending from outside of the body to the cervix; usually caused by incomplete fusion of the Mullerian ducts in embryogenesis MGI:llw2 https://orcid.org/0000-0003-3691-0324 an accumulation in the uterine lumen of normal secretions that ordinarily drain from the body but are retained when the cervix or vagina is significantly or completely closed hydrouteri hydrouterus MPheno.ontology MP:0009709 hydrometra MP:0009709 an accumulation in the uterine lumen of normal secretions that ordinarily drain from the body but are retained when the cervix or vagina is significantly or completely closed MGI:llw2 inability to experience pleasure in response to normally pleasurable stimuli MPheno.ontology MP:0009710 anhedonia MP:0009710 inability to experience pleasure in response to normally pleasurable stimuli https://orcid.org/0000-0003-4606-0597 anomaly in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment abnormal conditioned place preference behaviour MPheno.ontology MP:0009711 abnormal conditioned place preference behavior MP:0009711 anomaly in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment ISBN:0471316393 https://orcid.org/0000-0003-3691-0324 decrease in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment decreased conditioned place preference behavior impaired conditioned place preference behaviour MPheno.ontology MP:0009712 impaired conditioned place preference behavior MP:0009712 decrease in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment ISBN:0471316393 https://orcid.org/0000-0003-3691-0324 increase in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment enhanced conditioned place preference behaviour increased conditioned place preference behavior MPheno.ontology MP:0009713 enhanced conditioned place preference behavior MP:0009713 increase in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment ISBN:0471316393 https://orcid.org/0000-0003-3691-0324 reduced thickness of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells thin basal cell layer thin basal layer thin columnar layer thin germinative layer thin palisade layer thin stratum basale epidermis thin stratum cylindricum thin stratum germinativum MPheno.ontology MP:0009714 thin epidermis stratum basale MP:0009714 reduced thickness of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells ISBN:0-683-40008-8 increased thickness of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells thick basal cell layer thick basal layer thick columnar layer thick germinative layer thick palisade layer thick stratum basale epidermis thick stratum cylindricum thick stratum germinativum MPheno.ontology MP:0009715 thick epidermis stratum basale MP:0009715 increased thickness of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells ISBN:0-683-40008-8 any structural anomaly of the circumventricular organ derived from ependymal cells that is located at the junction of the third ventricle and the cerebral aqueduct and which secretes somatostatin abnormal SCO MPheno.ontology MP:0009716 abnormal subcommissural organ morphology MP:0009716 any structural anomaly of the circumventricular organ derived from ependymal cells that is located at the junction of the third ventricle and the cerebral aqueduct and which secretes somatostatin MESH:A08.713.810 absence of the circumventricular organ derived from ependymal cells that is located at the junction of the third ventricle and the cerebral aqueduct and which secretes somatostatin absent SCO MPheno.ontology MP:0009717 absent subcommissural organ MP:0009717 absence of the circumventricular organ derived from ependymal cells that is located at the junction of the third ventricle and the cerebral aqueduct and which secretes somatostatin MESH:A08.713.810 there is no evidence of the cell layer that lies just underneath the molecular layer of the cerebellar cortex, normally containing the neuronal cell bodies of the Purkinje cells arranged side by side in a single layer, and candelabrum interneurons vertically oriented between the Purkinje cells MPheno.ontology MP:0009718 absent Purkinje cell layer MP:0009718 there is no evidence of the cell layer that lies just underneath the molecular layer of the cerebellar cortex, normally containing the neuronal cell bodies of the Purkinje cells arranged side by side in a single layer, and candelabrum interneurons vertically oriented between the Purkinje cells MGI:llw2 the cerebellar lobules are reduced in size or number reduced cerebellum foliation reduced folia MPheno.ontology MP:0009719 reduced cerebellar foliation MP:0009719 the cerebellar lobules are reduced in size or number MGI:llw2 aberration in the spacing and arrangement of mammary glands that differentiate during early embryogenesis as it relates to the norm for the species MPheno.ontology abnormal mammary gland number MP:0009720 abnormal mammary gland pattern MP:0009720 aberration in the spacing and arrangement of mammary glands that differentiate during early embryogenesis as it relates to the norm for the species MGI:llw2 greater than the expected number of the specialized accessory gland of the skin of mammals that secretes milk supernumerary mammary glands increased Brustdruese number increased Lactiferous gland number increased Lobe of breast number increased Lobe of mammary gland number increased breast number increased glandula mammaria number increased lactiferous gland number increased lobe of breast number increased lobe of mammary gland number increased mamma number increased mammae number polymastia MPheno.ontology MP:0009721 increased mammary gland number MP:0009721 greater than the expected number of the specialized accessory gland of the skin of mammals that secretes milk MGI:llw2 an anomaly in the differentiation of the apex of the mammary gland on the integument surface into which the lactiferous ducts open abnormal papilla mammae development abnormal papilla of breast development abnormal teat development abnormal thele development abnormal thelium development MPheno.ontology MP:0009722 abnormal nipple development MP:0009722 an anomaly in the differentiation of the apex of the mammary gland on the integument surface into which the lactiferous ducts open MGI:llw2 greater than the expected number of structures located on the apex of the mammary gland on the integument surface into which the lactiferous ducts open; normal female mice have five pairs of mammary glands and nipples (males have no nipples); two pairs of nipples are situated in the abdomino-inguinal region (inguinal group) and three pairs in the ventral thoracic region (pectoral or thoracic group) Fyler:4234 hyperthelia polythelia supernumerary nipples supernumerary papilla mammae supernumerary teat supernumerary thele supernumerary thelium MPheno.ontology MP:0009723 increased nipple number MP:0009723 greater than the expected number of structures located on the apex of the mammary gland on the integument surface into which the lactiferous ducts open; normal female mice have five pairs of mammary glands and nipples (males have no nipples); two pairs of nipples are situated in the abdomino-inguinal region (inguinal group) and three pairs in the ventral thoracic region (pectoral or thoracic group) MGI:llw2 abnormal location of structures normally located on the apex of the mammary gland on the integument surface into which the lactiferous ducts open ectopic papilla mammae ectopic papilla of breast ectopic teat ectopic thele ectopic thelium MPheno.ontology MP:0009724 ectopic nipples MP:0009724 abnormal location of structures normally located on the apex of the mammary gland on the integument surface into which the lactiferous ducts open MGI:llw2 absence of the ectodermal invagination that forms opposite the optic cup in the primordium of the lens of the eye absent lenticular vesicle MPheno.ontology failure of lens vesicle induction MP:0009725 absent lens vesicle MP:0009725 absence of the ectodermal invagination that forms opposite the optic cup in the primordium of the lens of the eye ISBN:0-12-402035-6 MGI:llw2 any structural anomaly of the outermost mesenchymal covering of the developing brain and spinal cord that is composed of tough fibrous connective tissue from which the arachnoid mater, pia mater and dura mater are formed abnormal meninx primitiva MPheno.ontology MP:0009726 abnormal primordial meninx morphology MP:0009726 any structural anomaly of the outermost mesenchymal covering of the developing brain and spinal cord that is composed of tough fibrous connective tissue from which the arachnoid mater, pia mater and dura mater are formed MGI:llw2 any structural anomaly of the oval-shaped tarsal bone found between the talus and the 3 cuneiform bones abnormal central tarsal bone morphology MPheno.ontology abnormal centrale morphology MP:0009727 abnormal navicular morphology MP:0009727 any structural anomaly of the oval-shaped tarsal bone found between the talus and the 3 cuneiform bones MGI:llw2 any structural anomaly of the largest quadrangular bone at the back of the tarsus; it forms the heel or hock and articulates with the talus above it abnormal calcaneal bone morphology abnormal calcaneus morphology abnormal fibular tarsal bone abnormal fibulare morphology abnormal os calcis abnormal heel bone abnormal hock bone MPheno.ontology MP:0009728 abnormal calcaneum morphology MP:0009728 any structural anomaly of the largest quadrangular bone at the back of the tarsus; it forms the heel or hock and articulates with the talus above it ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 absence of the eight bones of the instep of the paw/foot: tibiale, talus, calcaneus, navicular, 3 cuneiform, and cuboid bones absent tarsal bones MPheno.ontology MP:0009729 absent tarsus bones MP:0009729 absence of the eight bones of the instep of the paw/foot: tibiale, talus, calcaneus, navicular, 3 cuneiform, and cuboid bones https://orcid.org/0000-0003-3691-0324 true MP:0009730 any anomaly in the ability of a female to collect stray offspring and return them to a defined location, such as a nest or den MPheno.ontology MP:0009731 abnormal offspring retrieval MP:0009731 any anomaly in the ability of a female to collect stray offspring and return them to a defined location, such as a nest or den https://orcid.org/0000-0003-4606-0597 a heartbeat is initiated by abnormal electrical activation originating in the heart ventricles rather than by the sinoatrial node, the normal heartbeat initiator, before a normal heartbeat would occur VPB VPC extrasystole premature ventricular contraction ventricular ectopic beat ventricular premature contraction MPheno.ontology PVC premature ventricular complex MP:0009732 ventricular premature beat MP:0009732 a heartbeat is initiated by abnormal electrical activation originating in the heart ventricles rather than by the sinoatrial node, the normal heartbeat initiator, before a normal heartbeat would occur https://orcid.org/0000-0003-4606-0597 absence of the erectile projection at the apex of the mammary gland where the lactiferous ducts open absent papilla mammae absent papilla of breast absent teat absent thele absent thelium MPheno.ontology MP:0009733 absent nipple MP:0009733 absence of the erectile projection at the apex of the mammary gland where the lactiferous ducts open ISBN:0-683-40008-8 any structural anomaly of the minute canals that pass the prostatic secretions to the urethra MA:0002785 abnormal prostatic duct morphology MPheno.ontology MP:0009734 abnormal prostate gland duct morphology MP:0009734 any structural anomaly of the minute canals that pass the prostatic secretions to the urethra ISBN:0-683-40008-8 anomaly in the formation or pattering of the of the prostate gland MPheno.ontology MP:0009735 abnormal prostate gland development MP:0009735 anomaly in the formation or pattering of the of the prostate gland https://orcid.org/0000-0003-3691-0324 anomaly of the prostatic bud to repeatedly divide into lobules during development of the prostate gland MPheno.ontology abnormal prostate gland ductal branching MP:0009736 abnormal prostate gland branching morphogenesis MP:0009736 anomaly of the prostatic bud to repeatedly divide into lobules during development of the prostate gland https://orcid.org/0000-0003-3691-0324 presence of one or more benign epithelial growths, often fluid-filled, within the gland in males that secretes part of the seminiferous fluid cystic prostate gland prostate gland cysts MPheno.ontology MP:0009737 prostate gland cyst MP:0009737 presence of one or more benign epithelial growths, often fluid-filled, within the gland in males that secretes part of the seminiferous fluid https://orcid.org/0000-0003-3691-0324 increased size of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles enlarged AP enlarged coagulating gland increased prostate gland anterior lobe size MPheno.ontology MP:0009738 enlarged prostate gland anterior lobe MP:0009738 increased size of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles PMID:12645922 PMID:3308446 https://orcid.org/0000-0003-3691-0324 increased size of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle enlarged dorsolateral prostate increased prostate gland dorsolateral lobe size MPheno.ontology enlarged DLP MP:0009739 enlarged prostate gland dorsolateral lobe MP:0009739 increased size of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle PMID:12645922 PMID:3308446 https://orcid.org/0000-0003-3691-0324 reduced size of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle decreased prostate gland dorsolateral lobe size small DLP small dorsolateral prostate MPheno.ontology MP:0009740 small prostate gland dorsolateral lobe MP:0009740 reduced size of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle PMID:12645922 PMID:3308446 one or more of the expected number of mammary glands that differentiate during early embryogenesis is/ are not located according to the normal arrangement MPheno.ontology MP:0009741 ectopic mammary gland MP:0009741 one or more of the expected number of mammary glands that differentiate during early embryogenesis is/ are not located according to the normal arrangement MGI:llw2 increased width of the lamellated connective tissue layer of the cornea increased corneal stroma thickness MPheno.ontology MP:0009742 increased cornea stroma thickness MP:0009742 increased width of the lamellated connective tissue layer of the cornea MGI:llw2 duplication of all or part of the first ray on one or more of the autopods MPheno.ontology MP:0009743 preaxial polydactyly MP:0009743 duplication of all or part of the first ray on one or more of the autopods PMID:19125433 duplication of all or part of any of the rays except the first ray on one or more of the autopods MPheno.ontology MP:0009744 postaxial polydactyly MP:0009744 duplication of all or part of any of the rays except the first ray on one or more of the autopods PMID:19125433 any anomaly in the behavioral response induced by a compound foreign to living organisms, such as consumption preference, induced hyperactivity or stereotypic behavior abnormal behavioral response to xenobiotics abnormal behavioural response to xenobiotic abnormal behavioural response to xenobiotics MPheno.ontology MP:0009745 abnormal behavioral response to xenobiotic MP:0009745 any anomaly in the behavioral response induced by a compound foreign to living organisms, such as consumption preference, induced hyperactivity or stereotypic behavior https://orcid.org/0000-0003-3691-0324 increased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or reduced dosage threshold for the appearance of the behavioral response enhanced behavioral response to xenobiotics enhanced behavioural response to xenobiotic enhanced behavioural response to xenobiotics MPheno.ontology MP:0009746 enhanced behavioral response to xenobiotic MP:0009746 increased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or reduced dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0003-3691-0324 decreased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response impaired behavioral response to xenobiotics impaired behavioural response to xenobiotic impaired behavioural response to xenobiotics MPheno.ontology MP:0009747 impaired behavioral response to xenobiotic MP:0009747 decreased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0003-3691-0324 any anomaly in the behavioral response induced by an addictive substance, such as induced hyperactivity or stereotypic behavior abnormal behavioural response to addictive substance MPheno.ontology MP:0009748 abnormal behavioral response to addictive substance MP:0009748 any anomaly in the behavioral response induced by an addictive substance, such as induced hyperactivity or stereotypic behavior https://orcid.org/0000-0003-3691-0324 increased sensitivity to an addictive substance capable of inducing the appearance of behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response enhanced behavioural response to addictive substance MPheno.ontology MP:0009749 enhanced behavioral response to addictive substance MP:0009749 increased sensitivity to an addictive substance capable of inducing the appearance of behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0003-3691-0324 decreased sensitivity to an addictive substance capable of inducing the appearance of behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response impaired behavioural response to addictive substance MPheno.ontology MP:0009750 impaired behavioral response to addictive substance MP:0009750 decreased sensitivity to an addictive substance capable of inducing the appearance of behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0003-3691-0324 increased sensitivity to alcohol resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response enhanced behavioural response to alcohol MPheno.ontology MP:0009751 enhanced behavioral response to alcohol MP:0009751 increased sensitivity to alcohol resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0003-3691-0324 increased sensitivity to nicotine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response enhanced behavioural response to nicotine MPheno.ontology MP:0009752 enhanced behavioral response to nicotine MP:0009752 increased sensitivity to nicotine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0003-3691-0324 increased sensitivity to morphine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response enhanced behavioural response to morphine MPheno.ontology MP:0009753 enhanced behavioral response to morphine MP:0009753 increased sensitivity to morphine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0003-3691-0324 increased sensitivity to cocaine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response enhanced behavioural response to cocaine MPheno.ontology MP:0009754 enhanced behavioral response to cocaine MP:0009754 increased sensitivity to cocaine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0003-3691-0324 decreased sensitivity to alcohol resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response impaired behavioural response to alcohol MPheno.ontology MP:0009755 impaired behavioral response to alcohol MP:0009755 decreased sensitivity to alcohol resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0003-3691-0324 decreased sensitivity to nicotine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response impaired behavioural response to nicotine MPheno.ontology MP:0009756 impaired behavioral response to nicotine MP:0009756 decreased sensitivity to nicotine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0003-3691-0324 decreased sensitivity to morphine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response impaired behavioural response to morphine MPheno.ontology MP:0009757 impaired behavioral response to morphine MP:0009757 decreased sensitivity to morphine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0003-3691-0324 decreased sensitivity to cocaine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response impaired behavioural response to cocaine MPheno.ontology MP:0009758 impaired behavioral response to cocaine MP:0009758 decreased sensitivity to cocaine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0003-3691-0324 any structural anomaly in the area located in the bottom of the permanent portion of a resting (telogen) hair follicle where the cells of the external root sheath of the hair follicle are contiguous with the basal layer of the epidermis; this portion of the follicle is involved in the generation of a new hair at the onset of the hair growth cycle (anagen) and contains the hair follicle stem cells MPheno.ontology MP:0009759 abnormal hair follicle bulge morphology MP:0009759 any structural anomaly in the area located in the bottom of the permanent portion of a resting (telogen) hair follicle where the cells of the external root sheath of the hair follicle are contiguous with the basal layer of the epidermis; this portion of the follicle is involved in the generation of a new hair at the onset of the hair growth cycle (anagen) and contains the hair follicle stem cells ISBN:0-8493-8372-2 MGI:llw2 PMID:19211055 any structural anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during mitosis abnormal mitotic spindle apparatus abnormal mitotic spindle fibers MPheno.ontology MP:0009760 abnormal mitotic spindle morphology MP:0009760 any structural anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during mitosis ISBN:8185198691 an anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during meiosis MPheno.ontology MP:0009761 abnormal meiotic spindle morphology MP:0009761 an anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during meiosis ISBN:8185198691 an anomaly in the process that normally prevents inaccurate segregation of chromosome by inhibiting cell-cycle progression in response to a signal generated by mitotic spindle damage or by chromosomes that have not attached to microtubules abnormal mitotic SAC MPheno.ontology MP:0009762 abnormal mitotic spindle assembly checkpoint MP:0009762 an anomaly in the process that normally prevents inaccurate segregation of chromosome by inhibiting cell-cycle progression in response to a signal generated by mitotic spindle damage or by chromosomes that have not attached to microtubules PMID:19372138 decrease in the amount of an external agent required to cause death or diseased state decreased resistance to induced morbidity/mortality decreased survival following induced morbidity/mortality increased sensitivity to induced morbidity/mortality MPheno.ontology MP:0009763 increased susceptibility to induced morbidity/mortality MP:0009763 decrease in the amount of an external agent required to cause death or diseased state https://orcid.org/0000-0003-4606-0597 increase in the amount of an external agent required to cause death or diseased state decreased sensitivity to induced morbidity/mortality increased resistance to induced morbidity/mortality increased survival following induced morbidity/mortality MPheno.ontology MP:0009764 decreased susceptibility to induced morbidity/mortality MP:0009764 increase in the amount of an external agent required to cause death or diseased state https://orcid.org/0000-0003-4606-0597 any anomaly in induction of a diseased state or death caused by a compound foreign to living organisms MPheno.ontology MP:0009765 abnormal xenobiotic induced morbidity/mortality MP:0009765 any anomaly in induction of a diseased state or death caused by a compound foreign to living organisms https://orcid.org/0000-0003-4606-0597 decrease in the amount of a compound foreign to living organisms required to cause death or diseased state decreased resistance to xenobiotic induced morbidity/mortality increased sensitivity to xenobiotic induced morbidity/mortality MPheno.ontology MP:0009766 increased susceptibility to xenobiotic induced morbidity/mortality MP:0009766 decrease in the amount of a compound foreign to living organisms required to cause death or diseased state https://orcid.org/0000-0003-4606-0597 increase in the amount of a compound foreign to living organisms required to cause death or diseased state decreased sensitivity to xenobiotic induced morbidity/mortality increased resistance to xenobiotic induced morbidity/mortality MPheno.ontology MP:0009767 decreased susceptibility to xenobiotic induced morbidity/mortality MP:0009767 increase in the amount of a compound foreign to living organisms required to cause death or diseased state https://orcid.org/0000-0003-4606-0597 atypical process of somite formation with the result of fewer or none of these cell masses being formed MPheno.ontology MP:0009768 impaired somite development MP:0009768 atypical process of somite formation with the result of fewer or none of these cell masses being formed https://orcid.org/0000-0003-4606-0597 an anomaly in the process that normally prevents inaccurate segregation of chromosomes by inhibiting cell-cycle progression in response to a signal generated by meiotic spindle damage or by chromosomes that have not attached to microtubules MPheno.ontology MP:0009769 abnormal meiotic spindle assembly checkpoint MP:0009769 an anomaly in the process that normally prevents inaccurate segregation of chromosomes by inhibiting cell-cycle progression in response to a signal generated by meiotic spindle damage or by chromosomes that have not attached to microtubules PMID:18596218 any structural anomaly in the flattened quadrangular body that is the point of crossing of the fibers of the optic nerves abnormal optic chiasma abnormal optic decussation MPheno.ontology MP:0009770 abnormal optic chiasm morphology MP:0009770 any structural anomaly in the flattened quadrangular body that is the point of crossing of the fibers of the optic nerves MGI:llw2 absence of the flattened quadrangular body that is the point of crossing of the fibers of the optic nerves absent optic chiasma absent optic decussation MPheno.ontology MP:0009771 absent optic chiasm MP:0009771 absence of the flattened quadrangular body that is the point of crossing of the fibers of the optic nerves MGI:llw2 anomaly in any of the steps during embryogenesis that produce the nerve layer lining in the back of the eye which senses light, and creates impulses that travel through the optic nerve to the brain abnormal retinal development MPheno.ontology MP:0009772 abnormal retina development MP:0009772 anomaly in any of the steps during embryogenesis that produce the nerve layer lining in the back of the eye which senses light, and creates impulses that travel through the optic nerve to the brain MGI:llw2 absence of the nerve layer lining the back of the eye that senses light, and creates impulses that travel through the optic nerve to the brain MPheno.ontology MP:0009773 absent retina MP:0009773 absence of the nerve layer lining the back of the eye that senses light, and creates impulses that travel through the optic nerve to the brain MGI:llw2 anomaly in the intensity, duration, or type of behaviors displayed after discontinuation of an addictive substance abnormal behavioural withdrawal response MPheno.ontology MP:0009774 abnormal behavioral withdrawal response MP:0009774 anomaly in the intensity, duration, or type of behaviors displayed after discontinuation of an addictive substance https://orcid.org/0000-0003-4606-0597 increase in the intensity or duration of behaviors displayed after discontinuation of an addictive substance increased behavioural withdrawal response MPheno.ontology MP:0009775 increased behavioral withdrawal response MP:0009775 increase in the intensity or duration of behaviors displayed after discontinuation of an addictive substance https://orcid.org/0000-0003-4606-0597 decrease in the intensity or duration of behaviors displayed after discontinuation of an addictive substance decreased behavioural withdrawal response MPheno.ontology MP:0009776 decreased behavioral withdrawal response MP:0009776 decrease in the intensity or duration of behaviors displayed after discontinuation of an addictive substance https://orcid.org/0000-0003-4606-0597 anomaly in the behavioral changes that follow exposure to an anesthetizing agent abnormal behavioural response to anaesthetic MPheno.ontology MP:0009777 abnormal behavioral response to anesthetic MP:0009777 anomaly in the behavioral changes that follow exposure to an anesthetizing agent https://orcid.org/0000-0003-4606-0597 decrease or delay in the behavioral changes that follow exposure to a given amount of an anesthetizing agent impaired behavioural response to anaesthetic MPheno.ontology MP:0009778 impaired behavioral response to anesthetic MP:0009778 decrease or delay in the behavioral changes that follow exposure to a given amount of an anesthetizing agent https://orcid.org/0000-0003-4606-0597 increase or exceleration in the behavioral changes that follow exposure to a given amount of an anesthetizing agent enhanced behavioural response to anaesthetic MPheno.ontology MP:0009779 enhanced behavioral response to anesthetic MP:0009779 increase or exceleration in the behavioral changes that follow exposure to a given amount of an anesthetizing agent https://orcid.org/0000-0003-4606-0597 any functional anomaly of a polymorphic cell that forms cartilage MPheno.ontology MP:0009780 abnormal chondrocyte physiology MP:0009780 any functional anomaly of a polymorphic cell that forms cartilage GO:0035988 ISBN:0-683-40008-8 an anomaly in the developmental progress of an embryo from 2 cell to blastocyst affecting the viability or number of embryos abnormal pre-implantation embryo development MPheno.ontology MP:0009781 abnormal preimplantation embryo development MP:0009781 an anomaly in the developmental progress of an embryo from 2 cell to blastocyst affecting the viability or number of embryos MGI:llw2 a deviation from the expected angle formed by a line representing the floor of the anterior cranial fossa intersecting a line representing the axis of the clivus of the base of the skull abnormal cranial base angle MPheno.ontology MP:0009782 abnormal basicranium angle MP:0009782 a deviation from the expected angle formed by a line representing the floor of the anterior cranial fossa intersecting a line representing the axis of the clivus of the base of the skull MGI:llw2 any structural anomaly of a cell that originates from the neural crest and differentiates into a pigment cell MPheno.ontology MP:0009783 abnormal melanoblast morphology MP:0009783 any structural anomaly of a cell that originates from the neural crest and differentiates into a pigment cell CL:0000541 any anomaly in the movement of the cells that originate from the neural crest and differentiate into pigment cells MPheno.ontology MP:0009784 abnormal melanoblast migration MP:0009784 any anomaly in the movement of the cells that originate from the neural crest and differentiate into pigment cells https://orcid.org/0000-0003-3691-0324 differences from the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens abnormal infection induced morbidity/mortality abnormal sensitivity to infection induced morbidity/mortality altered susceptibility to infection induced morbidity/mortality MPheno.ontology altered resistance to infection induced morbidity/mortality MP:0009785 abnormal susceptibility to infection induced morbidity/mortality MP:0009785 differences from the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens https://orcid.org/0000-0003-4606-0597 reduced likelihood that an organism will display the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens decreased sensitivity to infection induced morbidity/mortality increased resistance to infection induced morbidity/mortality MPheno.ontology MP:0009786 decreased susceptibility to infection induced morbidity/mortality MP:0009786 reduced likelihood that an organism will display the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens https://orcid.org/0000-0003-4606-0597 increased likelihood that an organism will display the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens decreased resistance to infection induced morbidity/mortality increased sensitivity to infection induced morbidity/mortality MPheno.ontology MP:0009787 increased susceptibility to infection induced morbidity/mortality MP:0009787 increased likelihood that an organism will display the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens https://orcid.org/0000-0003-4606-0597 increased likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria increased sensitivityy to bacterial infection induced morbidity/mortality MPheno.ontology decreased resistance to bacterial infection induced morbidity/mortality increased bacterial infection induced morbidity/mortality MP:0009788 increased susceptibility to bacterial infection induced morbidity/mortality MP:0009788 increased likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria https://orcid.org/0000-0003-4606-0597 reduced likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria decreased bacterial infection induced morbidity/mortality decreased sensitivity to bacterial infection induced morbidity/mortality increased resistance to bacterial infection induced morbidity/mortality MPheno.ontology MP:0009789 decreased susceptibility to bacterial infection induced morbidity/mortality MP:0009789 reduced likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria https://orcid.org/0000-0003-4606-0597 reduced likelihood that an organism will display the expected moribund state caused by a viral invasion or from components of or toxins produced by a virus decreased sensitivity to viral infection induced morbidity/mortality decreased viral infection induced morbidity/mortality increased resistance to viral infection induced morbidity/mortality MPheno.ontology MP:0009790 decreased susceptibility to viral infection induced morbidity/mortality MP:0009790 reduced likelihood that an organism will display the expected moribund state caused by a viral invasion or from components of or toxins produced by a virus https://orcid.org/0000-0003-4606-0597 increased likelihood that an organism will display the expected moribund state caused by a viral invasion or from components of or toxins produced by a virus decreased resistance to viral infection induced morbidity/mortality increased sensitivity to viral infection induced morbidity/mortality increased viral infection induced morbidity/mortality MPheno.ontology MP:0009791 increased susceptibility to viral infection induced morbidity/mortality MP:0009791 increased likelihood that an organism will display the expected moribund state caused by a viral invasion or from components of or toxins produced by a virus https://orcid.org/0000-0003-4606-0597 an inflammatory skin condition that causes flaky, white to yellowish scales to form on oily areas such as the scalp or inside the ear, with or without reddened skin MPheno.ontology MP:0009792 seborrheic dermatitis MP:0009792 an inflammatory skin condition that causes flaky, white to yellowish scales to form on oily areas such as the scalp or inside the ear, with or without reddened skin MGI:llw2 increase in the bulk size of the sebum secreting glands of the hair shaft due to cell enlargement MPheno.ontology MP:0009793 sebaceous gland hypertrophy MP:0009793 increase in the bulk size of the sebum secreting glands of the hair shaft due to cell enlargement MGI:llw2 increase in the number of normal cells in normal arrangement in the sebaceous glands, typically resulting in increased size hyperplastic sebaceous gland MPheno.ontology MP:0009794 sebaceous gland hyperplasia MP:0009794 increase in the number of normal cells in normal arrangement in the sebaceous glands, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 intercellular edema within the epidermis MPheno.ontology MP:0009795 epidermal spongiosis MP:0009795 intercellular edema within the epidermis MGI:llw2 any anomaly in the process whereby an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate; the small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase abnormal BER MPheno.ontology MP:0009796 abnormal base-excision repair MP:0009796 any anomaly in the process whereby an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate; the small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase GO:0006284 any functional anomaly in the system that promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination abnormal MMR abnormal long patch mismatch repair system abnormal mismatch repair, MutL-like pathway MPheno.ontology MP:0009797 abnormal mismatch repair MP:0009797 any functional anomaly in the system that promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination GO:0006298 any structural anomaly of the sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the orbit and its contents, the nasal cavity and the skin of the nose and forehead abnormal CN V1 abnormal V1 nerve morphology MPheno.ontology MP:0009798 abnormal ophthalmic nerve morphology MP:0009798 any structural anomaly of the sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the orbit and its contents, the nasal cavity and the skin of the nose and forehead ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the palate, upper teeth and gingiva, the skin between the palpebral fissure and the mouth, and from the nasal cavity and maxillary sinuses abnormal CN V2 MPheno.ontology abnormal V2 nerve morphology MP:0009799 abnormal maxillary nerve morphology MP:0009799 any structural anomaly of the sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the palate, upper teeth and gingiva, the skin between the palpebral fissure and the mouth, and from the nasal cavity and maxillary sinuses ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the motor and sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the auricle, the external acoustic meatus, tympanic membrane, temporal region, the cheek, the skin overlying the mandible, the anterior portion of the tongue, the floor of the mouth, lower teeth and gingiva and transmits motor information from the muscles of mastication, the mylohyoid muscle and digastric muscle and the muscles tensor tympani and tensor veli palatini abnormal CN V3 abnormal V3 nerve morphology MPheno.ontology MP:0009800 abnormal mandibular nerve morphology MP:0009800 any structural anomaly of the motor and sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the auricle, the external acoustic meatus, tympanic membrane, temporal region, the cheek, the skin overlying the mandible, the anterior portion of the tongue, the floor of the mouth, lower teeth and gingiva and transmits motor information from the muscles of mastication, the mylohyoid muscle and digastric muscle and the muscles tensor tympani and tensor veli palatini ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any defect in the formation of the fibrous elements found in the hair cortex comprising acidic (Type I ) and basic (Type II) proteins that give hair such aspects as resilience, and elasticity MPheno.ontology MP:0009801 abnormal hair cortex keratinization MP:0009801 any defect in the formation of the fibrous elements found in the hair cortex comprising acidic (Type I ) and basic (Type II) proteins that give hair such aspects as resilience, and elasticity ISBN:0-8493-8372-2 MGI:llw2 any structural anomaly in the large midline opening of the posterior inferior part of the roof of the fourth ventricle that connects the fourth ventricle to the posterior cerebromedullary cistern and the spinal cord abnormal arachnoid foramen morhpology abnormal foramen of Magendie morphology MPheno.ontology MP:0009802 abnormal median aperture morphology MP:0009802 any structural anomaly in the large midline opening of the posterior inferior part of the roof of the fourth ventricle that connects the fourth ventricle to the posterior cerebromedullary cistern and the spinal cord ISBN:0-683-40008-8 any structural anomaly of the two lateral openings of the fourth ventricle into the subarachnoid space at the cerebellopontine angle abnormal foramen of Key-Retzius morphology abnormal foramen of Luschka morphology abnormal foramen of Retzius morphology MPheno.ontology MP:0009803 abnormal lateral aperture morphology MP:0009803 any structural anomaly of the two lateral openings of the fourth ventricle into the subarachnoid space at the cerebellopontine angle ISBN:0-683-40008-8 any structural anomaly of the paired channels that connect the lateral and third ventricles and allows cerebrospinal fluid produced in the lateral ventricles to flow into the third ventricle abnormal foramen of Monro morphology abnormal foramina of Monro morphology abnormal interventricular foramen of CNS morphology abnormal interventricular foramina of Monro morphology MPheno.ontology MP:0009804 abnormal brain interventricular foramen morphology MP:0009804 any structural anomaly of the paired channels that connect the lateral and third ventricles and allows cerebrospinal fluid produced in the lateral ventricles to flow into the third ventricle ISBN:0-683-40008-8 absence of the large midline opening of the posterior inferior part of the roof of the fourth ventricle that connects the fourth ventricle to the posterior cerebromedullary cistern and the spinal cord absent arachnoid foramen MPheno.ontology absent foramen of Magendie MP:0009805 absent median aperture MP:0009805 absence of the large midline opening of the posterior inferior part of the roof of the fourth ventricle that connects the fourth ventricle to the posterior cerebromedullary cistern and the spinal cord ISBN:0-683-40008-8 any structural anomaly of the paired sacs of invaginated ectoderm that develop into the membraneous labyrinth of the inner ear abnormal acoustic vesicle morphology abnormal auditory vesicle morphology abnormal otocyst morphology MPheno.ontology MP:0009806 abnormal otic vesicle morphology MP:0009806 any structural anomaly of the paired sacs of invaginated ectoderm that develop into the membraneous labyrinth of the inner ear ISBN:0-683-40008-8 any structural anomaly of the dorsal sacroiliac, the sacrotuberal and/or the iliolumbar ligaments associated with the bony ring formed by the pair of hip bones fused at the symphysis and their firm articulation with the sacrum MPheno.ontology MP:0009807 abnormal pelvic ligament morphology MP:0009807 any structural anomaly of the dorsal sacroiliac, the sacrotuberal and/or the iliolumbar ligaments associated with the bony ring formed by the pair of hip bones fused at the symphysis and their firm articulation with the sacrum MGI:llw2 reduced number of cells of the central nervous system that form the insulating myelin sheath of axons in the CNS decreased oligodendroglia number decreased oligodendroglial cell number decreased oligoglia number decreased oligoglial cell number reduced oligodendrocyte number reduced oligodendroglia number reduced oligodendroglial cell number reduced oligoglia number reduced oligoglial cell number MPheno.ontology MP:0009808 decreased oligodendrocyte number MP:0009808 reduced number of cells of the central nervous system that form the insulating myelin sheath of axons in the CNS MESH:A08.637.600 MGI:llw2 anomaly in the amount in the urine of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine MPheno.ontology abnormal urine urate level MP:0009809 abnormal urine uric acid level MP:0009809 anomaly in the amount in the urine of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine https://orcid.org/0000-0003-4606-0597 greater amount in the urine of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine hyperuricosuria uricosuria MPheno.ontology hyperlithuria hyperuricuria lithuria MP:0009810 increased urine uric acid level MP:0009810 greater amount in the urine of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine https://orcid.org/0000-0003-4606-0597 anomaly in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation MPheno.ontology MP:0009811 abnormal prostaglandin level MP:0009811 anomaly in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation ISBN:0-683-40008-8 abnormal concentration of a potent, short-lived vasoactive peptide that causes arteriolar dilation and increased capillary permeability MPheno.ontology MP:0009812 abnormal bradykinin level MP:0009812 abnormal concentration of a potent, short-lived vasoactive peptide that causes arteriolar dilation and increased capillary permeability ISBN:0-397-51047-0 abnormal concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells abnormal leucotriene level MPheno.ontology MP:0009813 abnormal leukotriene level MP:0009813 abnormal concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells ISBN:0-397-51047-0 increase in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation MPheno.ontology MP:0009814 increased prostaglandin level MP:0009814 increase in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation ISBN:0-683-40008-8 reduction in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation reduced prostaglandin level MPheno.ontology MP:0009815 decreased prostaglandin level MP:0009815 reduction in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation ISBN:0-683-40008-8 increased concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells increased leucotriene level MPheno.ontology MP:0009816 increased leukotriene level MP:0009816 increased concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells ISBN:0-397-51047-0 reduced concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells decreased leucotriene level reduced leucotriene level reduced leukotriene level MPheno.ontology MP:0009817 decreased leukotriene level MP:0009817 reduced concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells ISBN:0-397-51047-0 anomalous concentration in the body of any of several compounds, originally derived from prostaglandin precursors in platelets, that stimulate aggregation of platelets and constriction of blood vessels MPheno.ontology MP:0009818 abnormal thromboxane level MP:0009818 anomalous concentration in the body of any of several compounds, originally derived from prostaglandin precursors in platelets, that stimulate aggregation of platelets and constriction of blood vessels https://orcid.org/0000-0002-6490-7723 anomaly in the blood concentration of any of the steroid hormones that control development and maintenance of masculine characteristics abnormal circulating androgenic hormone level MPheno.ontology MP:0009819 abnormal circulating androgen level MP:0009819 anomaly in the blood concentration of any of the steroid hormones that control development and maintenance of masculine characteristics https://orcid.org/0000-0003-4606-0597 any structural anomaly of the blood vessel network of the bile-secreting exocrine gland abnormal hepatic vasculature morphology hepatic vasculature dysplasia liver vasculature dysplasia MPheno.ontology MP:0009820 abnormal liver vasculature morphology MP:0009820 any structural anomaly of the blood vessel network of the bile-secreting exocrine gland https://orcid.org/0000-0003-4606-0597 any structural anomaly in the small bony canal that surrounds the endolymphatic duct canal and links the vestibule of the inner ear to the posterior part of the internal surface of the petrous temporal bone abnormal Cotunnius canal morphology abnormal aqueduct of Cotunnius morphology MPheno.ontology MP:0009821 abnormal vestibular aqueduct morphology MP:0009821 any structural anomaly in the small bony canal that surrounds the endolymphatic duct canal and links the vestibule of the inner ear to the posterior part of the internal surface of the petrous temporal bone MGI:llw2 any structural anomaly of the irregular depression found on the posterior inner surface of the petrous portion of the temporal bone just below its crest and above and lateral to the internal acoustic meatus abnormal floccular fossa MPheno.ontology MP:0009822 abnormal subarcuate fossa morphology MP:0009822 any structural anomaly of the irregular depression found on the posterior inner surface of the petrous portion of the temporal bone just below its crest and above and lateral to the internal acoustic meatus ISBN:0-683-40008-8 deviation in the expected amount of any of a group of phospholipids that are found especially in, but not restricted to, nerve tissue and yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis MPheno.ontology MP:0009823 abnormal sphingomyelin level MP:0009823 deviation in the expected amount of any of a group of phospholipids that are found especially in, but not restricted to, nerve tissue and yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis MGI:llw2 a granulomatous nodular lesion that appears in the region of epididymis and can be large enough to totally occlude the epididymal lumen; sperm granulomas are rounded or irregular in shape, and contain dense aggregates of immune cells and degenerating sperm resulting from an autoimmune response against sperm-associated antigens exposed following biochemical or surgical insult (e.g. vasectomy) to the epididymal epithelium sperm granuloma MPheno.ontology MP:0009824 spermatic granuloma MP:0009824 a granulomatous nodular lesion that appears in the region of epididymis and can be large enough to totally occlude the epididymal lumen; sperm granulomas are rounded or irregular in shape, and contain dense aggregates of immune cells and degenerating sperm resulting from an autoimmune response against sperm-associated antigens exposed following biochemical or surgical insult (e.g. vasectomy) to the epididymal epithelium https://orcid.org/0000-0002-6490-7723 an area of tissue erosion in the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure corneal ulcer corneal ulceration tunica cornea ulcer ulceration of the cornea MPheno.ontology MP:0009825 cornea ulcer MP:0009825 an area of tissue erosion in the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure https://orcid.org/0000-0003-4606-0597 an anomaly in the amount or arrangement of the criss-crossing collagen fibers that form a strong elastic network normally arranged in parallel to the surface of the skin MPheno.ontology MP:0009826 abnormal dermis reticular layer collagen network MP:0009826 an anomaly in the amount or arrangement of the criss-crossing collagen fibers that form a strong elastic network normally arranged in parallel to the surface of the skin MGI:llw2 loss of sections of skin either spontaneously or after gentle handling detached skin skin sloughing MPheno.ontology MP:0009827 skin detachment MP:0009827 loss of sections of skin either spontaneously or after gentle handling https://orcid.org/0000-0003-4606-0597 later onset of tumor occurrence than expected delayed tumor appearance delayed tumour appearance increased tumour latency MPheno.ontology MP:0009828 increased tumor latency MP:0009828 later onset of tumor occurrence than expected MGI:mberry increased size of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens increased eye anterior chamber size MPheno.ontology MP:0009829 enlarged eye anterior chamber MP:0009829 increased size of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens MESH:A09.371.060.067 MGI:mberry any structural anomaly in the segment of the sperm flagellum that attaches to the implantation fossa of the nucleus in the sperm head; from the remnant of the centriole at this point, the axoneme extends throughout the length of the flagellum abnormal sperm coupling apparatus morphology abnormal sperm head-tail coupling apparatus morphology MPheno.ontology MP:0009830 abnormal sperm connecting piece morphology MP:0009830 any structural anomaly in the segment of the sperm flagellum that attaches to the implantation fossa of the nucleus in the sperm head; from the remnant of the centriole at this point, the axoneme extends throughout the length of the flagellum PMID:14581499 abnormal sperm coupling apparatus morphology PMID:30032984 any structural anomaly of the highly organized segment of the sperm flagellum which begins at the connecting piece and is characterized by the presence of 9 outer dense fibers (ODFs) that lie outside each of the 9 outer axonemal microtubule doublets and by a sheath of mitochondria that encloses the ODFs and the axoneme; the midpiece terminates about one-fourth of the way down the sperm flagellum at the annulus, which marks the beginning of the principal piece MPheno.ontology MP:0009831 abnormal sperm midpiece morphology MP:0009831 any structural anomaly of the highly organized segment of the sperm flagellum which begins at the connecting piece and is characterized by the presence of 9 outer dense fibers (ODFs) that lie outside each of the 9 outer axonemal microtubule doublets and by a sheath of mitochondria that encloses the ODFs and the axoneme; the midpiece terminates about one-fourth of the way down the sperm flagellum at the annulus, which marks the beginning of the principal piece PMID:14581499 any structural anomaly or impairment of the tightly packed helical sheath of ATP-producing mitochondria restricted to the midpiece of the sperm flagellum MPheno.ontology MP:0009832 abnormal sperm mitochondrial sheath morphology MP:0009832 any structural anomaly or impairment of the tightly packed helical sheath of ATP-producing mitochondria restricted to the midpiece of the sperm flagellum PMID:14581499 absence of the tightly packed helical sheath of ATP-producing mitochondria, normally found in the midpiece of the sperm flagellum absent sperm mitochondria MPheno.ontology MP:0009833 absent sperm mitochondrial sheath MP:0009833 absence of the tightly packed helical sheath of ATP-producing mitochondria, normally found in the midpiece of the sperm flagellum PMID:14581499 any structural anomaly of the ring-like, filamentous structure located at the distal end of the midpiece of the sperm flagellum; the annulus is thought to form a diffusion barrier between the midpiece and the principal piece and serve as a stabilizing structure for tail rigidity abnormal sperm anulus morphology MPheno.ontology MP:0009834 abnormal sperm annulus morphology MP:0009834 any structural anomaly of the ring-like, filamentous structure located at the distal end of the midpiece of the sperm flagellum; the annulus is thought to form a diffusion barrier between the midpiece and the principal piece and serve as a stabilizing structure for tail rigidity PMID:14581499 absence of the ring-like, filamentous structure located at the midpiece-principal piece junction of the sperm flagellum, usually associated with a bent tail morphology absent sperm anulus MPheno.ontology MP:0009835 absent sperm annulus MP:0009835 absence of the ring-like, filamentous structure located at the midpiece-principal piece junction of the sperm flagellum, usually associated with a bent tail morphology PMID:14581499 any structural anomaly in the segment of the sperm flagellum where the mitochondrial sheath ends and the outer dense fibers (ODFs) associated with outer axonemal doublets 3 and 8 are replaced by the 2 longitudinal columns of the fibrous sheath (FS) which run the length of the principal piece and are stabilized by circumferential ribs; the principal piece makes up ~2/3 of the length of the sperm flagellum and is defined by the presence of the FS and of only 7 (rather than 9) ODFs which taper and then terminate near the distal end of the principal piece MPheno.ontology MP:0009836 abnormal sperm principal piece morphology MP:0009836 any structural anomaly in the segment of the sperm flagellum where the mitochondrial sheath ends and the outer dense fibers (ODFs) associated with outer axonemal doublets 3 and 8 are replaced by the 2 longitudinal columns of the fibrous sheath (FS) which run the length of the principal piece and are stabilized by circumferential ribs; the principal piece makes up ~2/3 of the length of the sperm flagellum and is defined by the presence of the FS and of only 7 (rather than 9) ODFs which taper and then terminate near the distal end of the principal piece PMID:14581499 any structural anomaly of the short tip of the sperm flagellum, adjacent to the sperm principal piece and furthest from the sperm head, which contains only the axoneme surrounded by the plasma membrane MPheno.ontology MP:0009837 abnormal sperm end piece morphology MP:0009837 any structural anomaly of the short tip of the sperm flagellum, adjacent to the sperm principal piece and furthest from the sperm head, which contains only the axoneme surrounded by the plasma membrane PMID:14581499 any structural anomaly of the central core of the sperm flagellum, composed of a ring of 9 outer microtubule doublets surrounding a central pair; inner and outer dynein arms project from each of the outer 9 doublets, and these arms are responsible for generating the motive force of the flagellum; in addition, 9 radial spokes, each of which originates from 1 of the 9 outer microtubular doublet pairs, project inward toward the central pair in a helical fashion abnormal flagellar axoneme MPheno.ontology MP:0009838 abnormal sperm axoneme morphology MP:0009838 any structural anomaly of the central core of the sperm flagellum, composed of a ring of 9 outer microtubule doublets surrounding a central pair; inner and outer dynein arms project from each of the outer 9 doublets, and these arms are responsible for generating the motive force of the flagellum; in addition, 9 radial spokes, each of which originates from 1 of the 9 outer microtubular doublet pairs, project inward toward the central pair in a helical fashion PMID:14581499 presence of more than one sperm flagellum, displaying either one common origin from the sperm head or multiple origins from the same sperm head multi-flagellate sperm multi-flagellated sperm multi-tailed sperm multiflagellate sperm multiple sperm flagella multiple sperm tails multiple tailed sperm sperm multiflagellation sperm with multiflagella supernumerary sperm flagella MPheno.ontology MP:0009839 multiflagellated sperm MP:0009839 presence of more than one sperm flagellum, displaying either one common origin from the sperm head or multiple origins from the same sperm head https://orcid.org/0000-0002-6490-7723 any structural anomaly of a cell with a vacuolated appearance due to abnormal deposition and retention of lipoproteins, and typically seen in atherolosclerotic lesions, as well as other conditions, and derived from or related to the group of cells having the ability to take up and sequester inert particles and vital dyes, including macrophages and macrophage precursors, specialized endothelial cells lining the sinusoids of the liver, spleen, and bone marrow, and macrophages of lymphatic tissue and fibroblasts of bone marrow MPheno.ontology MP:0009840 abnormal foam cell morphology MP:0009840 any structural anomaly of a cell with a vacuolated appearance due to abnormal deposition and retention of lipoproteins, and typically seen in atherolosclerotic lesions, as well as other conditions, and derived from or related to the group of cells having the ability to take up and sequester inert particles and vital dyes, including macrophages and macrophage precursors, specialized endothelial cells lining the sinusoids of the liver, spleen, and bone marrow, and macrophages of lymphatic tissue and fibroblasts of bone marrow CL:0000891 MGI:llw2 an increase in cells with a vacuolated appearance due to abnormal deposition and retention of lipoproteins and derived from or related to the group of cells having the ability to take up and sequester inert particles and vital dyes, including macrophages and macrophage precursors, specialized endothelial cells lining the sinusoids of the liver, spleen, and bone marrow, and macrophages of lymphatic tissue and fibroblasts of bone marrow increased foam cell number MPheno.ontology MP:0009841 foam cell reticulosis MP:0009841 an increase in cells with a vacuolated appearance due to abnormal deposition and retention of lipoproteins and derived from or related to the group of cells having the ability to take up and sequester inert particles and vital dyes, including macrophages and macrophage precursors, specialized endothelial cells lining the sinusoids of the liver, spleen, and bone marrow, and macrophages of lymphatic tissue and fibroblasts of bone marrow MGI:llw2 any anomaly in the ability of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult, to undergo rapid expansion by cell division abnormal NCC proliferation MPheno.ontology MP:0009842 abnormal neural crest cell proliferation MP:0009842 any anomaly in the ability of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult, to undergo rapid expansion by cell division https://orcid.org/0000-0003-3691-0324 reduction in the number of ransient and migratory group of cells that emerge from the dorsal region of the neural tube and disperse to many peripheral locations to form various tissues of the adult reduced neural crest cell number MPheno.ontology MP:0009843 decreased neural crest cell number MP:0009843 reduction in the number of ransient and migratory group of cells that emerge from the dorsal region of the neural tube and disperse to many peripheral locations to form various tissues of the adult ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 change in the timing or the number of neural crest cells undergoing programmed cell death abnormal NCC apoptosis MPheno.ontology MP:0009844 abnormal neural crest cell apoptosis MP:0009844 change in the timing or the number of neural crest cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 any structural anomaly of the transient and highly migratory group of cells that delaminate in early embryonic development from the dorsal neural tube and give rise to a variety of differentiated cell types, including (1) the neurons and glial cells of the sensory, sympathetic, and parasympathetic nervous systems, (2) the epinephrine-producing (medulla) cells of the adrenal gland, (3) the pigment-containing cells of the epidermis, and (4) many of the skeletal and connective tissue components of the head MPheno.ontology abnormal NCC morphology MP:0009845 abnormal neural crest cell morphology MP:0009845 any structural anomaly of the transient and highly migratory group of cells that delaminate in early embryonic development from the dorsal neural tube and give rise to a variety of differentiated cell types, including (1) the neurons and glial cells of the sensory, sympathetic, and parasympathetic nervous systems, (2) the epinephrine-producing (medulla) cells of the adrenal gland, (3) the pigment-containing cells of the epidermis, and (4) many of the skeletal and connective tissue components of the head https://orcid.org/0000-0002-6490-7723 any structural anomaly of the specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types MPheno.ontology MP:0009846 abnormal neural crest morphology MP:0009846 any structural anomaly of the specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types https://orcid.org/0000-0002-6490-7723 anomaly in the coloration of the scrotum due to changes in the amount, shape, or distribution of cells producing pigment MPheno.ontology MP:0009847 abnormal scrotum pigmentation MP:0009847 anomaly in the coloration of the scrotum due to changes in the amount, shape, or distribution of cells producing pigment MGI:llw2 increase in the frequency of bursts of horizontal crossings (greater than one per second) in a time period MPheno.ontology MP:0009848 increased horizontal stereotypic behavior MP:0009848 increase in the frequency of bursts of horizontal crossings (greater than one per second) in a time period PMID:19720087 increase in the frequency of bursts of vertical crossings (greater than one per second) in a time period MPheno.ontology MP:0009849 increased vertical stereotypic behavior MP:0009849 increase in the frequency of bursts of vertical crossings (greater than one per second) in a time period PMID:19720087 death anytime between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9) MPheno.ontology MP:0009850 embryonic lethality between implantation and placentation MP:0009850 death anytime between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9) MGI:llw2 altered ability of the Sertoli cells to endocytose and degrade the apoptotic spermatogenic cells and residual bodies (shed cytoplasts) during the maturation phase of spermiogenesis; normally, greater than 50 per cent of differentiating spermatogenic cells undergo apoptosis before maturing into spermatozoa, and these cells are selectively and rapidly eliminated through phagocytosis by Sertoli cells MPheno.ontology MP:0009851 abnormal Sertoli cell phagocytosis MP:0009851 altered ability of the Sertoli cells to endocytose and degrade the apoptotic spermatogenic cells and residual bodies (shed cytoplasts) during the maturation phase of spermiogenesis; normally, greater than 50 per cent of differentiating spermatogenic cells undergo apoptosis before maturing into spermatozoa, and these cells are selectively and rapidly eliminated through phagocytosis by Sertoli cells https://orcid.org/0000-0002-6490-7723 enhanced phagocytic activity of testicular Sertoli cells MPheno.ontology MP:0009852 increased Sertoli cell phagocytosis MP:0009852 enhanced phagocytic activity of testicular Sertoli cells https://orcid.org/0000-0002-6490-7723 decreased phagocytic activity of testicular Sertoli cells impaired Sertoli cell phagocytosis reduced Sertoli cell phagocytosis MPheno.ontology MP:0009853 decreased Sertoli cell phagocytosis MP:0009853 decreased phagocytic activity of testicular Sertoli cells https://orcid.org/0000-0002-6490-7723 an increase in the time required for solids or liquids to leave the stomach and enter the intestines delayed gastric emptying gastroparesis MPheno.ontology MP:0009854 impaired gastric peristalsis MP:0009854 an increase in the time required for solids or liquids to leave the stomach and enter the intestines https://orcid.org/0000-0003-4606-0597 OBSOLETE. the portion of the face comprising the nasal, maxillary, and zygomatic bones is shortened relative to the calvaria and located posterior to the normal position MP:0012085 MPheno.ontology MP:0009855 Deprecating and merging with midface hypoplasia, see https://github.com/mgijax/mammalian-phenotype-ontology/issues/3802 obsolete midface retrusion true MP:0009855 OBSOLETE. the portion of the face comprising the nasal, maxillary, and zygomatic bones is shortened relative to the calvaria and located posterior to the normal position MGI:llw2 inability to propulse semen from the genital ducts and the urethra to the exterior within a defined test period absence of ejaculation absent ejaculate failure to ejaculate MPheno.ontology MP:0009856 failure of ejaculation MP:0009856 inability to propulse semen from the genital ducts and the urethra to the exterior within a defined test period https://orcid.org/0000-0002-6490-7723 absence of the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration absent renal cortex MPheno.ontology MP:0009857 absent kidney cortex MP:0009857 absence of the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any anomaly in the migration of leukocytes from the blood vessels into the surrounding tissue MP:0003629 abnormal extravasation abnormal immune cell cellular extravasation abnormal transendothelial leucocyte migration abnormal transendothelial leukocyte migration abnormal leucocyte transmigration abnormal leukocyte transmigration abnormal lymphocyte transmigration MPheno.ontology MP:0009858 abnormal cellular extravasation MP:0009858 any anomaly in the migration of leukocytes from the blood vessels into the surrounding tissue GO:0045123 changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life csmith 2009-11-23T12:16:37Z cloudy eyes eyeball opacity MPheno.ontology MP:0009859 eye opacity MP:0009859 changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life MGI:llw2 hardening of the kidney from overgrowth, infiltration by fibrous connective tissue, and contraction of the interstitial connective tissue; often a result of renovascular diseases or chronic hypertension csmith 2009-11-23T12:23:19Z MPheno.ontology MP:0009860 nephrosclerosis MP:0009860 hardening of the kidney from overgrowth, infiltration by fibrous connective tissue, and contraction of the interstitial connective tissue; often a result of renovascular diseases or chronic hypertension ISBN:0-683-40008-8 MESH:C12.777.419.610 any structural anomaly of the thick circular layer of gastric musculature encircling the gastroduodenal junction at the gastric outlet of the stomach csmith 2009-11-23T04:05:01Z MA:0002952 abnormal pyloric valve morphology MPheno.ontology MP:0009861 abnormal pyloric sphincter morphology MP:0009861 any structural anomaly of the thick circular layer of gastric musculature encircling the gastroduodenal junction at the gastric outlet of the stomach ISBN:0-683-40008-8 any structural anomaly of the dense connective tissue which contains predominantly elastic fibers and is found in the aorta wall csmith 2009-12-15T09:40:31Z MA:0002859 abnormal aorta elastic lamina morphology abnormal aorta elastic laminae morphology MPheno.ontology MP:0009862 abnormal aorta elastic tissue morphology MP:0009862 any structural anomaly of the dense connective tissue which contains predominantly elastic fibers and is found in the aorta wall https://orcid.org/0000-0003-3691-0324 any structural anomaly of the type of heart connective tissue found in the endocardial layer that consists mainly of elastic fibers csmith 2009-12-15T10:00:11Z MA:0002858 abnormal cardiac elastic tissue morphology MPheno.ontology MP:0009863 abnormal heart elastic tissue morphology MP:0009863 any structural anomaly of the type of heart connective tissue found in the endocardial layer that consists mainly of elastic fibers https://orcid.org/0000-0003-3691-0324 any structural anomaly of the thin layer of flat cells that line the aorta and form a barrier between circulating blood in the lumen and the rest of the vessel wall csmith 2009-12-15T10:30:06Z MA:0000701 MPheno.ontology MP:0009864 abnormal aorta endothelium morphology MP:0009864 any structural anomaly of the thin layer of flat cells that line the aorta and form a barrier between circulating blood in the lumen and the rest of the vessel wall https://orcid.org/0000-0003-3691-0324 any structural anomaly of the nonstriated, involuntary muscle tissue located in the wall of the aorta csmith 2009-12-15T10:33:00Z MA:0000702 MPheno.ontology MP:0009865 abnormal aorta smooth muscle morphology MP:0009865 any structural anomaly of the nonstriated, involuntary muscle tissue located in the wall of the aorta https://orcid.org/0000-0003-3691-0324 any structural anomaly of the part of the aorta that encloses the luminal space csmith 2009-12-15T10:39:12Z MA:0002901 MPheno.ontology MP:0009866 abnormal aorta wall morphology MP:0009866 any structural anomaly of the part of the aorta that encloses the luminal space https://orcid.org/0000-0003-3691-0324 any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise csmith 2009-12-15T10:41:11Z Fyler:1431 MA:0002570 abnormal aorta ascendens abnormal pars ascendens aortae MPheno.ontology MP:0009867 abnormal ascending aorta morphology MP:0009867 any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise ISBN:0-683-40008-8 any structural anomaly of the part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest csmith 2009-12-15T10:44:36Z MA:0002572 MPheno.ontology MP:0009868 abnormal descending thoracic aorta morphology MP:0009868 any structural anomaly of the part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest http://www.medterms.com any structural anomaly of the part of the aorta extending from the arch of aorta to the point where it divides into the common iliac arteries csmith 2009-12-15T11:10:08Z MA:0002571 abnormal aorta descendens abnormal pars descendens aortae MPheno.ontology MP:0009869 abnormal descending aorta morphology MP:0009869 any structural anomaly of the part of the aorta extending from the arch of aorta to the point where it divides into the common iliac arteries https://orcid.org/0000-0003-3691-0324 any structural anomaly of the part of the descending aorta that begins at the diaphragm and continues to the point of the common iliac arteries, and supplies oxygenated blood to all of the abdominal and pelvic organs and the legs csmith 2009-12-15T11:12:21Z MA:0000474 abnormal aorta abdominalis abnormal pars abdominalis aortae MPheno.ontology MP:0009870 abnormal abdominal aorta morphology MP:0009870 any structural anomaly of the part of the descending aorta that begins at the diaphragm and continues to the point of the common iliac arteries, and supplies oxygenated blood to all of the abdominal and pelvic organs and the legs http://www.medterms.com any structural anomaly of the outermost layer of the aorta wall, containing connective tissue and collagen and elastic fibers csmith 2009-12-15T03:34:40Z MA:0002902 abnormal aorta adventitia morphology MPheno.ontology MP:0009871 abnormal aorta tunica adventitia morphology MP:0009871 any structural anomaly of the outermost layer of the aorta wall, containing connective tissue and collagen and elastic fibers ISBN:0-683-40008-8 any structural anomaly of the innermost layer of the aorta, containing the endothelium and an inner elastic membrane csmith 2009-12-15T03:36:30Z MA:0002904 MPheno.ontology MP:0009872 abnormal aorta tunica intima morphology MP:0009872 any structural anomaly of the innermost layer of the aorta, containing the endothelium and an inner elastic membrane ISBN:0-683-40008-8 any structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers csmith 2009-12-15T03:37:13Z MA:0002903 MPheno.ontology MP:0009873 abnormal aorta tunica media morphology MP:0009873 any structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers ISBN:0-683-40008-8 change in the expected number of cells undergoing programmed cell death (apoptosis) in the autopod during development, precluding the sculpting of normal digits csmith 2009-12-17T01:09:39Z abnormal interdigital apoptosis MPheno.ontology MP:0009874 abnormal interdigital cell death MP:0009874 change in the expected number of cells undergoing programmed cell death (apoptosis) in the autopod during development, precluding the sculpting of normal digits MGI:llw2 no cells undergo programmed cell death (apoptosis) in the autopod during development, precluding the sculpting of any digits csmith 2009-12-17T01:11:32Z MGI:llw2 absent interdigital apoptosis MPheno.ontology MP:0009875 absent interdigital cell death MP:0009875 no cells undergo programmed cell death (apoptosis) in the autopod during development, precluding the sculpting of any digits MGI:llw2 MGI:llw2 Linda Washburn, Mouse Genome Informatics Curator a greater frequency of chromosomal aberrations is found in cells after exposure to the alkylating agent thiophosphamide csmith 2009-12-17T01:15:33Z MPheno.ontology MP:0009876 increased cellular sensitivity to thiophosphamide MP:0009876 a greater frequency of chromosomal aberrations is found in cells after exposure to the alkylating agent thiophosphamide MGI:llw2 a projection of bone, sometimes a benign tumor (osteochondroma), that is capped by cartilage and arises from a bone that develops from cartilage; these usually arise on the joints of bones and are most commonly found on ribs, and also the ankles, knees, shoulders, elbows and hips csmith 2009-12-17T01:19:42Z MPheno.ontology MP:0009877 exostosis MP:0009877 a projection of bone, sometimes a benign tumor (osteochondroma), that is capped by cartilage and arises from a bone that develops from cartilage; these usually arise on the joints of bones and are most commonly found on ribs, and also the ankles, knees, shoulders, elbows and hips ISBN:0-683-40008-8 MGI:llw2 reduced probability that injury or disease will result in damaged or broken bones csmith 2009-12-17T01:44:37Z resistance to bone fracture MPheno.ontology MP:0009878 decreased susceptibility to bone fracture MP:0009878 reduced probability that injury or disease will result in damaged or broken bones MGI:hdene any structural anomaly in the arch that connects the lateral masses of the atlas anteriorly and articulates with the anterior articular facet of the dens of the axis csmith 2009-12-17T01:52:03Z abnormal anterior arch morphology abnormal arcus anterior atlantis MPheno.ontology MP:0009879 abnormal arcus anterior morphology MP:0009879 any structural anomaly in the arch that connects the lateral masses of the atlas anteriorly and articulates with the anterior articular facet of the dens of the axis ISBN:0-683-40008-8 MGI:llw2 abnormally decreased size of the mouth csmith 2009-12-17T02:01:50Z microstomia reduced mouth size small mouth MPheno.ontology MP:0009880 decreased mouth size MP:0009880 abnormally decreased size of the mouth MGI:llw2 abnormally increased size of the mouth csmith 2009-12-17T02:05:21Z enlarged mouth large mouth macrostomia MPheno.ontology MP:0009881 increased mouth size MP:0009881 abnormally increased size of the mouth https://orcid.org/0000-0002-6490-7723 absence of the palatal projections from the inner part of the maxillary processes that fuse to form the secondary palate csmith 2010-01-19T02:48:14Z absent palatal shelves failure of palatal shelf formation MPheno.ontology MP:0009882 absent palatal shelf MP:0009882 absence of the palatal projections from the inner part of the maxillary processes that fuse to form the secondary palate PMID:16680722 decrease in the number of normal cells in normal arrangement in the palatal projections from the inner part of the maxillary processes that fuse to form the secondary palate, typically resulting in decreased size csmith 2010-01-19T02:53:02Z hypoplastic palatal shelf MPheno.ontology MP:0009883 palatal shelf hypoplasia MP:0009883 decrease in the number of normal cells in normal arrangement in the palatal projections from the inner part of the maxillary processes that fuse to form the secondary palate, typically resulting in decreased size PMID:16680722 palatal shelves do not elevate during development and instead fuse with tongue tissues or with the mandible tissues csmith 2010-01-19T03:16:25Z MPheno.ontology MP:0009884 palatal shelf fusion with tongue or mandible MP:0009884 palatal shelves do not elevate during development and instead fuse with tongue tissues or with the mandible tissues PMID:16680722 any anomaly in the process in which the palatal shelves move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue csmith 2010-01-19T03:17:08Z MPheno.ontology MP:0009885 abnormal palatal shelf elevation MP:0009885 any anomaly in the process in which the palatal shelves move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue PMID:16680722 the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue csmith 2010-01-19T03:17:29Z MPheno.ontology MP:0009886 failure of palatal shelf elevation MP:0009886 the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue PMID:16680722 any anomaly in the process in which the palatal shelves grow toward the midline and adhere along the medial edge epithelia, forming the midline epithelial seam which disappears in later stages csmith 2010-01-19T03:17:54Z MPheno.ontology MP:0009887 abnormal palatal shelf fusion at midline MP:0009887 any anomaly in the process in which the palatal shelves grow toward the midline and adhere along the medial edge epithelia, forming the midline epithelial seam which disappears in later stages PMID:16942766 polarized growth towards the midline following palatal shelf elevation does not occur csmith 2010-01-19T03:18:59Z MPheno.ontology MP:0009888 palatal shelves fail to meet at midline MP:0009888 polarized growth towards the midline following palatal shelf elevation does not occur PMID:16942766 palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam csmith 2010-01-19T03:35:05Z MPheno.ontology MP:0009889 persistence of medial edge epithelium during palatal shelf fusion MP:0009889 palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam PMID:16680722 congenital fissure of the tissues normally uniting to form the secondary palate csmith 2010-01-20T11:04:45Z partial cleft palate MPheno.ontology MP:0009890 cleft secondary palate MP:0009890 congenital fissure of the tissues normally uniting to form the secondary palate PMID:16680722 partial cleft palate https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706041/ any structural anomaly of the maxillary or palatine shelves that comprise the bones of the hard palate csmith 2010-01-20T11:38:22Z abnormal palatal bone morphology MPheno.ontology MP:0009891 abnormal palate bone morphology MP:0009891 any structural anomaly of the maxillary or palatine shelves that comprise the bones of the hard palate https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the palate bone, typically resulting in decreased size csmith 2010-01-20T02:30:11Z hypoplastic palatal bone hypoplastic palate bone palatal bone hypoplasia palatial bone hypoplasia MPheno.ontology MP:0009892 palate bone hypoplasia MP:0009892 decrease in the number of normal cells in normal arrangement in the palate bone, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 congenital fissure of the tissues normally uniting to form the primary palate; the primary palate will form the premaxillary portion of the maxilla (anterior one-third of the final palate) csmith 2010-01-20T02:33:15Z cleft primitive palate MPheno.ontology MP:0009893 cleft primary palate MP:0009893 congenital fissure of the tissues normally uniting to form the primary palate; the primary palate will form the premaxillary portion of the maxilla (anterior one-third of the final palate) PMID:16680722 absence of the anterior part of the palate that is supported by and includes the palatal extensions of the maxillary and palatine bones in the adult csmith 2010-01-20T02:33:53Z MPheno.ontology MP:0009894 absent hard palate MP:0009894 absence of the anterior part of the palate that is supported by and includes the palatal extensions of the maxillary and palatine bones in the adult https://orcid.org/0000-0003-3691-0324 reduced size of the bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate csmith 2010-01-20T02:37:15Z decreased horizontal plate size decreased palatal process of palatine bone size decreased palatine palatal process size decreased palatine shelf size small palatine bone horizontal plate MPheno.ontology MP:0009895 decreased palatine bone horizontal plate size MP:0009895 reduced size of the bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the palatine bone horizontal plate, typically resulting in decreased size csmith 2010-01-20T02:38:43Z horizontal plate hypoplasia hypoplastic horizontal plate hypoplastic palatal process of palatine bone hypoplastic palatine palatal process palatal process of palatine bone hypoplasia palatine palatal process hypoplasia palatine shelf hypoplasia MPheno.ontology MP:0009896 palatine bone horizontal plate hypoplasia MP:0009896 decrease in the number of normal cells in normal arrangement in the palatine bone horizontal plate, typically resulting in decreased size ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 reduced size of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate csmith 2010-01-20T02:39:08Z decreased maxillary palatal process size decreased palatal process of maxilla size decreased palatine process size reduced maxillary palatal process size reduced palatal process of maxilla size reduced palatine process size small maxillary shelf MPheno.ontology MP:0009897 decreased maxillary shelf size MP:0009897 reduced size of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the maxillary shelf, typically resulting in decreased size csmith 2010-01-20T02:39:29Z hypoplastic maxillary palatal process hypoplastic palatal process of maxilla maxillary palatal process hypoplasia palatal process of maxilla hypoplasia MPheno.ontology MP:0009898 maxillary shelf hypoplasia MP:0009898 decrease in the number of normal cells in normal arrangement in the maxillary shelf, typically resulting in decreased size ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the hyoid bone, typically resulting in decreased size csmith 2010-01-20T02:40:12Z hypoplastic hyoid bone hypoplastic lingual bone lingual bone hypoplasia tongue bone hypoplasia MPheno.ontology MP:0009899 hyoid bone hypoplasia MP:0009899 decrease in the number of normal cells in normal arrangement in the hyoid bone, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the vomer bone, typically resulting in decreased size csmith 2010-01-20T02:40:44Z hypoplastic vomer bone MPheno.ontology MP:0009900 vomer bone hypoplasia MP:0009900 decrease in the number of normal cells in normal arrangement in the vomer bone, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 any structural anomaly of an unpaired facial process in the embryo formed from the tissues surrounding the forebrain vesicle that develops into the forehead and bridge of the nose/snout csmith 2010-01-27T09:39:03Z abnormal forebrain process abnormal forebrain prominence abnormal frontonasal mass abnormal frontonasal process morphology MPheno.ontology MP:0009901 abnormal frontonasal prominence morphology MP:0009901 any structural anomaly of an unpaired facial process in the embryo formed from the tissues surrounding the forebrain vesicle that develops into the forehead and bridge of the nose/snout ISBN:0-683-40008-8 any structural anomaly of the lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it csmith 2010-01-27T09:44:33Z abnormal lateral nasal fold morphology abnormal lateral nasal process morphology MPheno.ontology MP:0009902 abnormal lateral nasal prominence morphology MP:0009902 any structural anomaly of the lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it ISBN:0-683-40008-8 any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it csmith 2010-01-27T09:49:40Z abnormal medial nasal fold morphology abnormal medial nasal process morphology MPheno.ontology MP:0009903 abnormal medial nasal prominence morphology MP:0009903 any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the tongue, typically resulting in decreased size csmith 2010-01-27T10:06:55Z hypoplastic tongue MPheno.ontology MP:0009904 tongue hypoplasia MP:0009904 decrease in the number of normal cells in normal arrangement in the tongue, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 absence of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor csmith 2010-01-27T10:14:16Z aglossia lingual aplasia missing tongue tongue agenesis tongue aplasia MPheno.ontology MP:0009905 absent tongue MP:0009905 absence of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor ISBN:0-683-40008-8 greater size the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor csmith 2010-01-27T10:16:39Z enlarged tongue macroglossia megaglossia MPheno.ontology MP:0009906 increased tongue size MP:0009906 greater size the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor ISBN:0-683-40008-8 reduced size of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor csmith 2010-01-27T10:20:53Z MP:0006255 microglossia reduced tongue size small tongue MPheno.ontology MP:0009907 decreased tongue size MP:0009907 reduced size of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor ISBN:0-683-40008-8 the tongue extends out beyond the oral cavity past the lips; may be due to paralysis, oral cavity size, tongue hypoplasia or dysfunction of the hypoglossal nerve csmith 2010-01-27T10:25:50Z tongue protrusion MPheno.ontology MP:0009908 protruding tongue MP:0009908 the tongue extends out beyond the oral cavity past the lips; may be due to paralysis, oral cavity size, tongue hypoplasia or dysfunction of the hypoglossal nerve https://orcid.org/0000-0003-3691-0324 tongue is fully divided by a lengthwise midline cleft csmith 2010-01-27T10:37:39Z cleft tongue MPheno.ontology MP:0009909 bifid tongue MP:0009909 tongue is fully divided by a lengthwise midline cleft https://orcid.org/0000-0003-3691-0324 url:https://medical-dictionary.thefreedictionary.com/bifid+tongue tongue is split into two halves at the anterior tip; division does not extend the full length of the tongue; this is normal in some animals such as reptiles csmith 2010-01-27T10:51:47Z forked tongue MPheno.ontology MP:0009910 bifurcated tongue MP:0009910 tongue is split into two halves at the anterior tip; division does not extend the full length of the tongue; this is normal in some animals such as reptiles https://orcid.org/0000-0003-3691-0324 greater size of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles csmith 2010-01-27T10:58:00Z enlarged hyoid bone enlarged lingual bone enlarged tongue bone increased lingual bone size increased tongue bone size MPheno.ontology MP:0009911 increased hyoid bone size MP:0009911 greater size of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles ISBN:0-683-40008-8 reduced size of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles csmith 2010-01-27T10:58:49Z decreased lingual bone size decreased tongue bone size reduced hyoid bone size reduced lingual bone size reduced tongue bone size small hyoid bone MPheno.ontology MP:0009912 decreased hyoid bone size MP:0009912 reduced size of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles ISBN:0-683-40008-8 any structural anomaly of the larger and more lateral of the paired processes on either side of the hyoid bone csmith 2010-01-27T11:03:38Z abnormal hyoid bone greater cornu morphology abnormal hyoid bone superior horn morphology abnormal hyoid bone upper horn morphology MPheno.ontology MP:0009913 abnormal hyoid bone greater horn morphology MP:0009913 any structural anomaly of the larger and more lateral of the paired processes on either side of the hyoid bone ISBN:0-683-40008-8 any structural anomaly of shorter and more medial of the paired processes on either side of the hyoid bone csmith 2010-01-27T11:05:09Z abnormal hyoid bone lesser cornu morphology abnormal hyoid bone lower horn morphology MPheno.ontology MP:0009914 abnormal hyoid bone lesser horn morphology MP:0009914 any structural anomaly of shorter and more medial of the paired processes on either side of the hyoid bone ISBN:0-683-40008-8 absence of shorter and more medial of the paired processes on either side of the hyoid bone csmith 2010-01-27T11:05:33Z absent hyoid bone lesser cornu absent hyoid bone lower horns MPheno.ontology MP:0009915 absent hyoid bone lesser horns MP:0009915 absence of shorter and more medial of the paired processes on either side of the hyoid bone ISBN:0-683-40008-8 absence of the larger and more lateral of the paired processes on either side of the hyoid bone csmith 2010-01-27T11:05:57Z absent hyoid bone greater cornu absent hyoid bone superior horns absent hyoid bone upper horns MPheno.ontology MP:0009916 absent hyoid bone greater horns MP:0009916 absence of the larger and more lateral of the paired processes on either side of the hyoid bone ISBN:0-683-40008-8 any structural anomaly of the main curve of the hyoid bone, from which the horns extend csmith 2010-01-27T11:09:04Z abnormal base of hyoid bone abnormal basihyal bone abnormal basihyoid morphology abnormal body of hyoid bone morphology abnormal corpus ossis hyoidei morphology abnormal hyoid bone base MPheno.ontology MP:0009917 abnormal hyoid bone body morphology MP:0009917 any structural anomaly of the main curve of the hyoid bone, from which the horns extend ISBN:0-683-40008-8 any structural anomaly of the fibrous cord that connects the tip of the styloid process of the temporal bone to the lesser horn of the hyoid bone csmith 2010-01-27T11:26:33Z abnormal epihyoid ligament morphology MPheno.ontology MP:0009918 abnormal stylohyoid ligament morphology MP:0009918 any structural anomaly of the fibrous cord that connects the tip of the styloid process of the temporal bone to the lesser horn of the hyoid bone ISBN:0-683-40008-8 any structural anomaly of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative csmith 2010-01-27T01:10:38Z CL:0000958 abnormal T1 stage B cell morphology abnormal transitional one stage B lymphocyte morphology abnormal transitional one stage B-cell morphology abnormal transitional one stage B-lymphocyte morphology MPheno.ontology MP:0009919 abnormal transitional stage T1 B cell morphology MP:0009919 any structural anomaly of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative PMID:12810111 any structural anomaly of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles csmith 2010-01-27T01:11:25Z CL:0000959 abnormal T2 stage B cell morphology abnormal transitional two stage B lymphocyte morphology abnormal transitional two stage B-cell morphology abnormal transitional two stage B-lymphocyte morphology MPheno.ontology MP:0009920 abnormal transitional stage T2 B cell morphology MP:0009920 any structural anomaly of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles PMID:12810111 any structural anomaly of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive csmith 2010-01-27T01:11:40Z CL:0000960 abnormal T3 stage B cell morphology abnormal transitional three stage B lymphocyte morphology abnormal transitional three stage B-cell morphology abnormal transitional three stage B-lymphocyte morphology MPheno.ontology MP:0009921 abnormal transitional stage T3 B cell morphology MP:0009921 any structural anomaly of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive PMID:12810111 greater number of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative csmith 2010-01-27T01:12:21Z CL:0000958 increased T1 stage B cell number increased transitional one stage B lymphocyte number increased transitional one stage B-cell number increased transitional one stage B-lymphocyte number MPheno.ontology MP:0009922 increased transitional stage T1 B cell number MP:0009922 greater number of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative PMID:12810111 reduced number of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative csmith 2010-01-27T01:12:48Z CL:0000958 decreased T1 stage B cell number decreased transitional one stage B lymphocyte number decreased transitional one stage B-cell number decreased transitional one stage B-lymphocyte number reduced T1 stage B cell number reduced transitional one stage B lymphocyte number reduced transitional one stage B-cell number reduced transitional one stage B-lymphocyte number MPheno.ontology MP:0009923 decreased transitional stage T1 B cell number MP:0009923 reduced number of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative PMID:12810111 absence of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative csmith 2010-01-27T01:13:06Z CL:0000958 absent T1 stage B cells absent transitional one stage B lymphocytes absent transitional one stage B-cells absent transitional one stage B-lymphocytes MPheno.ontology MP:0009924 absent transitional stage T1 B cells MP:0009924 absence of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative PMID:12810111 greater number of a type of a transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles csmith 2010-01-27T01:13:49Z CL:0000959 increased T2 stage B cell number increased transitional two stage B lymphocyte number increased transitional two stage B-cell number increased transitional two stage B-lymphocyte number MPheno.ontology MP:0009925 increased transitional stage T2 B cell number MP:0009925 greater number of a type of a transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles PMID:12810111 reduced number of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles csmith 2010-01-27T01:14:05Z CL:0000959 decreased T2 stage B cell number decreased transitional two stage B lymphocyte number decreased transitional two stage B-cell number decreased transitional two stage B-lymphocyte number reduced T2 stage B cell number reduced transitional two stage B lymphocyte number reduced transitional two stage B-cell number reduced transitional two stage B-lymphocyte number MPheno.ontology MP:0009926 decreased transitional stage T2 B cell number MP:0009926 reduced number of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles PMID:12810111 absence of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles csmith 2010-01-27T01:14:20Z CL:0000959 absent T2 stage B cells absent transitional two stage B lymphocytes absent transitional two stage B-cells absent transitional two stage B-lymphocytes MPheno.ontology MP:0009927 absent transitional stage T2 B cells MP:0009927 absence of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles PMID:12810111 amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is decreased or increased in hair located behind the ears when compared to control animal pigmentation csmith 2010-01-27T01:56:11Z MPheno.ontology MP:0009928 abnormal pinna hair pigmentation MP:0009928 amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is decreased or increased in hair located behind the ears when compared to control animal pigmentation MGI:llw2 hernial protrusion of the spinal cord and its meninges through an opening or defect in the vertebral column csmith 2010-01-27T01:58:56Z Fyler:4309 meningomyelocoele myelocystomeningocele myelocystomeningocoele myelomeningocele myelomeningocoele MPheno.ontology MP:0009929 meningomyelocele MP:0009929 hernial protrusion of the spinal cord and its meninges through an opening or defect in the vertebral column ISBN:0-683-40008-8 covered with upright, fine, sometimes lightly curled hair csmith 2010-01-27T03:00:03Z fine hair MPheno.ontology MP:0009930 fuzzy hair MP:0009930 covered with upright, fine, sometimes lightly curled hair MGI:llw2 anomaly in the visual aspect of the skin csmith 2010-01-27T03:14:23Z MPheno.ontology MP:0009931 abnormal skin appearance MP:0009931 anomaly in the visual aspect of the skin MGI:llw2 invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury csmith 2010-01-27T03:41:34Z cutaneous fibrosis MPheno.ontology MP:0009932 skin fibrosis MP:0009932 invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury https://orcid.org/0000-0002-6490-7723 an anomaly in the expected coloration of hair on the dorsal and/or ventral surface of the tail csmith 2010-01-27T03:44:35Z MPheno.ontology MP:0009933 abnormal tail hair pigmentation MP:0009933 an anomaly in the expected coloration of hair on the dorsal and/or ventral surface of the tail MGI:llw2 an anomaly in the expected color gradient of hair covering the metatarsals and phalanges often differentially expressed in females and males csmith 2010-01-27T03:45:24Z MPheno.ontology MP:0009934 abnormal hind foot hair pigmentation MP:0009934 an anomaly in the expected color gradient of hair covering the metatarsals and phalanges often differentially expressed in females and males MGI:llw2 any structural anomaly of the sac-like structures comprising the sebaceous glands located at the rim of the eyelids and responsible for producing sebum csmith 2010-01-27T03:57:53Z abnormal meibomian gland acini MPheno.ontology MP:0009935 abnormal Meibomian gland acinus morphology MP:0009935 any structural anomaly of the sac-like structures comprising the sebaceous glands located at the rim of the eyelids and responsible for producing sebum https://orcid.org/0000-0003-0431-8641 any structural anomaly of the small membranous protrusion from the dendrite of a neuron that is involved in synaptic transmission; it typically receives input from a single synapse of an axon csmith 2010-01-27T04:00:49Z MPheno.ontology MP:0009936 abnormal dendritic spine morphology MP:0009936 any structural anomaly of the small membranous protrusion from the dendrite of a neuron that is involved in synaptic transmission; it typically receives input from a single synapse of an axon MGI:llw2 abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses csmith 2010-02-02T01:43:56Z MP:0006008 MPheno.ontology abnormal neuronal differentiation MP:0009937 The definition of the previous ID MP:0006008 [abnormal neurogenesis] specified only the growth or development of neurons; this is not the accepted definition of neurogenesis in GO:0022008 or most dictionary resources; these include all cells of the nervous system including glia. A new term of abnormal neuron differentiation was created that matched the definition and MP:0006008 [abnormal neurogenesis] has been merged into it. abnormal neuron differentiation MP:0009937 abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses https://orcid.org/0000-0003-3691-0324 any structural anomaly of the small neurons of the hippocampal granule cell layer csmith 2010-02-02T02:23:28Z CL:0001033 abnormal hippocampal granule cell morphology abnormal hippocampus granule neuron morphology MPheno.ontology MP:0009938 abnormal hippocampus granule cell morphology MP:0009938 any structural anomaly of the small neurons of the hippocampal granule cell layer https://orcid.org/0000-0003-3691-0324 any structural anomaly of one or more neurons residing in the hippocampal region of the brain csmith 2010-02-02T02:50:11Z abnormal hippocampal neuron morphology MPheno.ontology MP:0009939 abnormal hippocampus neuron morphology MP:0009939 any structural anomaly of one or more neurons residing in the hippocampal region of the brain https://orcid.org/0000-0003-4606-0597 any structural anomaly of a multipolar projection neuron in the hippocampus pyramidal cell layer; pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base; the axons may have local collaterals but also project outside their cortical region csmith 2010-02-02T02:52:01Z abnormal hippocampus projection neuron morphology abnormal hippocampus pyramidal neuron morphology MPheno.ontology MP:0009940 abnormal hippocampus pyramidal cell morphology MP:0009940 any structural anomaly of a multipolar projection neuron in the hippocampus pyramidal cell layer; pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base; the axons may have local collaterals but also project outside their cortical region CL:1001571 PMID:21597968 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the group of neurons residing in the olfactory bulb that serve to process and refine signals arising from olfactory sensory neurons csmith 2010-02-02T03:44:21Z MPheno.ontology MP:0009941 abnormal olfactory bulb interneuron morphology MP:0009941 any structural anomaly of the group of neurons residing in the olfactory bulb that serve to process and refine signals arising from olfactory sensory neurons PMID:18603310 any structural anomaly of the main intrinsic GABAergic neuron in the granule cell layer of the main olfactory bulb; dendrites of these cells receive synaptic input from mitral and tufted cell lateral dendrites in the external plexiform layer, and have synaptic outputs on those dendrites through reciprocal dendrodendritic synapses csmith 2010-02-02T03:49:07Z CL:0000626 NLX:nifext_123 abnormal olfactory granule neuron morphology MPheno.ontology MP:0009942 abnormal olfactory bulb granule cell morphology MP:0009942 any structural anomaly of the main intrinsic GABAergic neuron in the granule cell layer of the main olfactory bulb; dendrites of these cells receive synaptic input from mitral and tufted cell lateral dendrites in the external plexiform layer, and have synaptic outputs on those dendrites through reciprocal dendrodendritic synapses NLX:nifext_123 NLX:nifext_123 NeuroLex.org any structural anomaly of the small neuron in the glomerular layer of the olfactory bulb whose dendrites arborize within a glomerulus, where it receives synaptic input from olfactory receptor cell axon terminals, and also engages in dendrodendritic interactions with mitral and tufted cell dendrites; uses both GABA and dopamine as a neurotransmitter csmith 2010-02-02T03:49:38Z NLX:nlx_cell_091202 abnormal olfactory bulb periglomerular neuron morphology MPheno.ontology MP:0009943 abnormal olfactory bulb periglomerular cell morphology MP:0009943 any structural anomaly of the small neuron in the glomerular layer of the olfactory bulb whose dendrites arborize within a glomerulus, where it receives synaptic input from olfactory receptor cell axon terminals, and also engages in dendrodendritic interactions with mitral and tufted cell dendrites; uses both GABA and dopamine as a neurotransmitter NLX:nlx_cell_091202 NLX:nlx_cell_091202 NeuroLex.org any structural anomaly in the lobe in the anterior part of each cerebral hemisphere that is responsible for olfactory functions csmith 2010-02-04T11:26:33Z MA:0002413 MPheno.ontology MP:0009944 abnormal olfactory lobe morphology MP:0009944 any structural anomaly in the lobe in the anterior part of each cerebral hemisphere that is responsible for olfactory functions http://purl.obolibrary.org/obo/UBERON_0005366 any structural anomaly of the forebrain region that coordinates sensory signaling arising from the vomeronasal organ; it is located on the dorsal-posterior portion of the main olfactory bulb, and the axons that leave the accessory olfactory bulb project to targets in the amygdala and hypothalamus csmith 2010-02-04T11:31:49Z MA:0000966 MPheno.ontology MP:0009945 abnormal accessory olfactory bulb morphology MP:0009945 any structural anomaly of the forebrain region that coordinates sensory signaling arising from the vomeronasal organ; it is located on the dorsal-posterior portion of the main olfactory bulb, and the axons that leave the accessory olfactory bulb project to targets in the amygdala and hypothalamus https://orcid.org/0000-0003-3691-0324 any structural anomaly of the laminar structure of the forebrain region that coordinates neuronal signaling involved in the perception of smell csmith 2010-02-04T11:33:51Z abnormal olfactory bulb lamina morphology MPheno.ontology MP:0009946 abnormal olfactory bulb layer morphology MP:0009946 any structural anomaly of the laminar structure of the forebrain region that coordinates neuronal signaling involved in the perception of smell ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the part of the olfactory bulb, lying superior to the mitral cell layer and inferior to the glomerular layer, which is mostly neuropil composed almost entirely of mitral and tufted cell dendrites, granule cell dendrites and their synaptic inputs csmith 2010-02-04T11:34:28Z MA:0000969 NLX:nlx_96 abnormal olfactory bulb EPL morphology MPheno.ontology MP:0009947 abnormal olfactory bulb external plexiform layer morphology MP:0009947 any structural anomaly of the part of the olfactory bulb, lying superior to the mitral cell layer and inferior to the glomerular layer, which is mostly neuropil composed almost entirely of mitral and tufted cell dendrites, granule cell dendrites and their synaptic inputs NLX:nlx_96 NLX:nlx_96 NeuroLex.org any structural anomaly in the most superficial layer of the olfactory bulb that consists of mitral cell dendritic arborizations, olfactory nerve fibers, and periglomerular cells csmith 2010-02-04T11:35:31Z MA:0000970 MPheno.ontology MP:0009948 abnormal olfactory bulb glomerular layer morphology MP:0009948 any structural anomaly in the most superficial layer of the olfactory bulb that consists of mitral cell dendritic arborizations, olfactory nerve fibers, and periglomerular cells http://purl.obolibrary.org/obo/UBERON_0005377 any structural anomaly of the olfactory bulb layer consisting primarily of multiple small, round neurons that lack axons csmith 2010-02-04T11:36:16Z MA:0000971 abnormal olfactory bulb GC layer morphology MPheno.ontology MP:0009949 abnormal olfactory bulb granule cell layer morphology MP:0009949 any structural anomaly of the olfactory bulb layer consisting primarily of multiple small, round neurons that lack axons http://purl.obolibrary.org/obo/UBERON_0005378 any structural anomaly in the olfactory bulb layer in which axons from mitral cells and axon collaterals of external tufted cells run csmith 2010-02-04T11:36:51Z MA:0000972 abnormal olfactory bulb IPL morphology MPheno.ontology MP:0009950 abnormal olfactory bulb internal plexiform layer morphology MP:0009950 any structural anomaly in the olfactory bulb layer in which axons from mitral cells and axon collaterals of external tufted cells run https://www.frontiersin.org/articles/10.3389/fncir.2014.00098/full any structural anomaly in the olfactory bulb layer composed of pyramidal neurons and located between the granule cell and plexiform layers csmith 2010-02-04T11:37:46Z MA:0000973 abnormal olfactory bulb MC layer morphology MPheno.ontology MP:0009951 abnormal olfactory bulb mitral cell layer morphology MP:0009951 any structural anomaly in the olfactory bulb layer composed of pyramidal neurons and located between the granule cell and plexiform layers http://purl.obolibrary.org/obo/UBERON_0004186 any structural anomaly of the region of mitotically active layer of cells surrounding the lateral brain ventricles that consists of migrating neuroblasts, astrocytes and transitory amplifying progenitor cells, that produce neurons that migrate to the olfactory bulb csmith 2010-02-04T11:38:44Z MA:0000974 abnormal olfactory bulb SEZ morphology abnormal olfactory bulb SVZ morphology abnormal olfactory bulb subependymal layer abnormal olfactory bulb subependymal plate abnormal olfactory bulb subependymal zone morphology MPheno.ontology MP:0009952 abnormal olfactory bulb subventricular zone morphology MP:0009952 any structural anomaly of the region of mitotically active layer of cells surrounding the lateral brain ventricles that consists of migrating neuroblasts, astrocytes and transitory amplifying progenitor cells, that produce neurons that migrate to the olfactory bulb https://orcid.org/0000-0003-3691-0324 any structural anomaly of the region in the ventral telencephalon, prominent in rodents, but present in all mammals, consisting of a laminated cortical part and the cap/hilus region; it is traditionally viewed as part of the olfactory cortex but recognized by some as having a striatal character; according to many authors, the structure of the OT transitions from cortical like to striatal like along the lateral medial axis csmith 2010-02-04T12:23:33Z MA:0000976 MPheno.ontology MP:0009953 This structure does not exist in primates. abnormal olfactory tubercle morphology MP:0009953 any structural anomaly of the region in the ventral telencephalon, prominent in rodents, but present in all mammals, consisting of a laminated cortical part and the cap/hilus region; it is traditionally viewed as part of the olfactory cortex but recognized by some as having a striatal character; according to many authors, the structure of the OT transitions from cortical like to striatal like along the lateral medial axis NLX:Maryann_Martone https://orcid.org/0000-0003-3691-0324 any structural anomaly of the large glutaminergic nerve cells whose dendrites synapse with axons of the olfactory receptor neurons in the glomerular layer of the olfactory bulb, and whose axons pass centrally in the olfactory tract to the olfactory cortex csmith 2010-02-04T12:52:28Z abnormal mitral neuron morphology MPheno.ontology MP:0009954 abnormal mitral cell morphology MP:0009954 any structural anomaly of the large glutaminergic nerve cells whose dendrites synapse with axons of the olfactory receptor neurons in the glomerular layer of the olfactory bulb, and whose axons pass centrally in the olfactory tract to the olfactory cortex ISBN:0-683-40008-8 any structural anomaly of the principal glutaminergic neuron located in the outer third of the external plexiform layer of the olfactory bulb; a single short primary dendrite traverses the outer external plexiform layer and terminates within an olfactory glomerulus in a tuft of branches, where it receives the input from olfactory receptor neuron axon terminals; axons of the tufted cells transfer information to a number of areas in the brain, including the piriform cortex, entorhinal cortex, olfactory tubercle, and amygdala csmith 2010-02-04T01:46:53Z NLX:nifext_121 MPheno.ontology MP:0009955 abnormal olfactory bulb tufted cell morphology MP:0009955 any structural anomaly of the principal glutaminergic neuron located in the outer third of the external plexiform layer of the olfactory bulb; a single short primary dendrite traverses the outer external plexiform layer and terminates within an olfactory glomerulus in a tuft of branches, where it receives the input from olfactory receptor neuron axon terminals; axons of the tufted cells transfer information to a number of areas in the brain, including the piriform cortex, entorhinal cortex, olfactory tubercle, and amygdala NLX:nifext_121 NLX:nifext_121 NeuroLex.org any structural anomaly of the laminar structure of the cerebellar cortex comprising the gray matter of the cerebellum csmith 2010-02-04T02:19:31Z MA:0000201 MPheno.ontology MP:0009956 abnormal cerebellar layer morphology MP:0009956 any structural anomaly of the laminar structure of the cerebellar cortex comprising the gray matter of the cerebellum https://orcid.org/0000-0003-3691-0324 any structural anomaly of the region of a cerebellar lobule that resides in the central section of the cerebellum between the two hemispheres; in humans, vermis lobule regions may be nearly continuous with the cerebellar hemisphere lobules dorsally but are separated by deeper longitudinal fissues in the ventral regions; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres csmith 2010-02-04T02:41:16Z MPheno.ontology MP:0009957 abnormal cerebellum vermis lobule morphology MP:0009957 any structural anomaly of the region of a cerebellar lobule that resides in the central section of the cerebellum between the two hemispheres; in humans, vermis lobule regions may be nearly continuous with the cerebellar hemisphere lobules dorsally but are separated by deeper longitudinal fissues in the ventral regions; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres PMID:17506688 https://orcid.org/0000-0003-3691-0324 absence of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites csmith 2010-02-04T04:10:40Z absent cerebellar granule neurons MPheno.ontology MP:0009958 absent cerebellar granule cells MP:0009958 absence of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites ISBN:0838580343 any structural anomaly of the paired regions of the cerebellum that lie outside and lateral to the central vermis csmith 2010-02-05T10:13:02Z MA:0000200 MPheno.ontology MP:0009959 abnormal cerebellar hemisphere morphology MP:0009959 any structural anomaly of the paired regions of the cerebellum that lie outside and lateral to the central vermis https://orcid.org/0000-0003-3691-0324 any structural anomaly of the region of the cerebellum that is anterior to the primary fissure csmith 2010-02-05T10:14:07Z MA:0000991 abnormal cerebellum rostral lobe morphology abnormal paleocerebellum morphology MPheno.ontology MP:0009960 abnormal cerebellum anterior lobe morphology MP:0009960 any structural anomaly of the region of the cerebellum that is anterior to the primary fissure ISBN:0838580343 any structural anomaly of the small region of the cerebellum that is posterior to the posteriolateral fissure in humans; it receives input from the inferior and medial vestibular nuclei and sends fibers back to the vestibular nuclei, and processes and integrates these signals to allow for the constant maintenance of balance csmith 2010-02-05T10:15:15Z abnormal archicerebellum morphology abnormal vestibulocerebellum morphology MPheno.ontology MP:0009961 abnormal flocculonodular lobe morphology MP:0009961 any structural anomaly of the small region of the cerebellum that is posterior to the posteriolateral fissure in humans; it receives input from the inferior and medial vestibular nuclei and sends fibers back to the vestibular nuclei, and processes and integrates these signals to allow for the constant maintenance of balance ISBN:0838580343 http:www.spiritus-temporis.com/cerebellum/anatomy.html any structural anomaly of the region of the cerebellum that is posterior to the primary fissure and anterior to the posteriolateral fissure csmith 2010-02-05T10:16:51Z abnormal cerebellum caudal lobe morphology abnormal neocerebellum morphology MPheno.ontology MP:0009962 abnormal cerebellum posterior lobe morphology MP:0009962 any structural anomaly of the region of the cerebellum that is posterior to the primary fissure and anterior to the posteriolateral fissure ISBN:0838580343 any structural anomaly of the region of a cerebellar lobule that resides in either of the lateral sections of the cerebellum outside the vermis; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres; distinct species specific differences in hemisphere lobulation occurs among mammals, with greatest complexity in primates csmith 2010-02-05T10:32:12Z MPheno.ontology MP:0009963 abnormal cerebellum hemisphere lobule morphology MP:0009963 any structural anomaly of the region of a cerebellar lobule that resides in either of the lateral sections of the cerebellum outside the vermis; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres; distinct species specific differences in hemisphere lobulation occurs among mammals, with greatest complexity in primates PMID:17506688 PMID:19693030 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the ten gyri of the cerebellar cortex csmith 2010-02-05T12:37:36Z abnormal cerebellar folia morphology abnormal cerebellar gyri morphology MPheno.ontology MP:0009964 abnormal cerebellum lobule morphology MP:0009964 any structural anomaly of the ten gyri of the cerebellar cortex ISBN:0-683-40008-8 any structural anomaly of the most lateral paired regions of the cerebellum; the lateral zone receives input from the parietal cortex via pontocerebellar mossy fibers regarding the location and position of the body and integrates input signals with indications of muscle activity csmith 2010-02-05T12:40:36Z abnormal cerebellum lateral zone morphology abnormal cerebrocerebellum morphology MPheno.ontology MP:0009965 abnormal cerebellum lateral hemisphere morphology MP:0009965 any structural anomaly of the most lateral paired regions of the cerebellum; the lateral zone receives input from the parietal cortex via pontocerebellar mossy fibers regarding the location and position of the body and integrates input signals with indications of muscle activity ISBN:0838580343 http://www.spiritus-temporis.com/cerebellum/anatomy.html any structural anomaly of the paired regions of the cerebellar hemisphere that lie adjacent to the vermis and are between the vermis and lateral regions of the hemispheres; it receives input from the corticopontocerebellar fibers that originate from the motor cortex, and also receives sensory feedback from the muscles; these signals are integrated by this region, to coordinate muscle activity with motor inputs csmith 2010-02-05T12:41:17Z abnormal paravermal cortical zone moprhology abnormal spinocerebellum morphology intermediate part MPheno.ontology abnormal cerebellum paravermis morphology MP:0009966 abnormal cerebellum intermediate hemisphere morphology MP:0009966 any structural anomaly of the paired regions of the cerebellar hemisphere that lie adjacent to the vermis and are between the vermis and lateral regions of the hemispheres; it receives input from the corticopontocerebellar fibers that originate from the motor cortex, and also receives sensory feedback from the muscles; these signals are integrated by this region, to coordinate muscle activity with motor inputs ISBN:0838580343 http://www.spiritus-temporis.com/cerebellum/anatomy.html any anomaly in the ability of a neuron to undergo rapid expansion by cell division csmith 2010-02-08T11:08:37Z MPheno.ontology MP:0009967 abnormal neuron proliferation MP:0009967 any anomaly in the ability of a neuron to undergo rapid expansion by cell division https://orcid.org/0000-0003-3691-0324 any anomaly in the ability of a cerebellar granule cell precursor population to undergo rapid expansion by cell division csmith 2010-02-08T11:08:57Z MPheno.ontology MP:0009968 abnormal cerebellar granule cell precursor proliferation MP:0009968 any anomaly in the ability of a cerebellar granule cell precursor population to undergo rapid expansion by cell division https://orcid.org/0000-0003-3691-0324 any structural anomaly of the projection neurons in the pyramidal cell layer of the cerebral cortex csmith 2010-02-08T01:32:27Z abnormal cerebral cortex projection neuron morphology abnormal cerebral cortex pyramidal neuron morphology MPheno.ontology MP:0009969 abnormal cerebral cortex pyramidal cell morphology MP:0009969 any structural anomaly of the projection neurons in the pyramidal cell layer of the cerebral cortex ISBN:0-683-40008-8 increased number of the multipolar projection neurons in the hippocampus pyramidal cell layer csmith 2010-02-08T01:54:08Z increased hippocampus projection neuron cell number increased hippocampus pyramidal neuron cell number MPheno.ontology MP:0009970 increased hippocampus pyramidal cell number MP:0009970 increased number of the multipolar projection neurons in the hippocampus pyramidal cell layer https://orcid.org/0000-0003-3691-0324 decreased number of the multipolar projection neurons in the hippocampus pyramidal cell layer csmith 2010-02-08T01:54:38Z decreased hippocampus projection neuron cell number decreased hippocampus pyramidal neuron cell number reduced hippocampus projection neuron cell number reduced hippocampus pyramidal neuron cell number MPheno.ontology MP:0009971 decreased hippocampus pyramidal cell number MP:0009971 decreased number of the multipolar projection neurons in the hippocampus pyramidal cell layer https://orcid.org/0000-0003-3691-0324 absence of the multipolar projection neurons in the hippocampus pyramidal cell layer csmith 2010-02-08T01:55:00Z absent hippocampus projection neuron cells absent hippocampus pyramidal neuron cells MPheno.ontology MP:0009972 absent hippocampus pyramidal cells MP:0009972 absence of the multipolar projection neurons in the hippocampus pyramidal cell layer https://orcid.org/0000-0003-3691-0324 increased number of the projection neurons in the pyramidal cell layer of the cerebral cortex csmith 2010-02-08T01:55:26Z increased cerebral cortex projection neuron cell number increased cerebral cortex pyramidal neuron cell number MPheno.ontology MP:0009973 increased cerebral cortex pyramidal cell number MP:0009973 increased number of the projection neurons in the pyramidal cell layer of the cerebral cortex ISBN:0-683-40008-8 reduced number of the projection neurons in the pyramidal cell layer of the cerebral cortex csmith 2010-02-08T01:55:54Z decreased cerebral cortex projection neuron cell number decreased cerebral cortex pyramidal neuron cell number reduced cerebral cortex projection neuron cell number reduced cerebral cortex pyramidal neuron cell number MPheno.ontology MP:0009974 decreased cerebral cortex pyramidal cell number MP:0009974 reduced number of the projection neurons in the pyramidal cell layer of the cerebral cortex ISBN:0-683-40008-8 absence of the projection neurons in the pyramidal cell layer of the cerebral cortex csmith 2010-02-08T01:56:17Z absent cerebral cortex projection neuron cells absent cerebral cortex pyramidal neuron cells MPheno.ontology MP:0009975 absent cerebral cortex pyramidal cells MP:0009975 absence of the projection neurons in the pyramidal cell layer of the cerebral cortex ISBN:0-683-40008-8 any structural anomaly of any of the three large paired bundles of nerve fibers that connect the cerebellum to the brain stem csmith 2010-02-08T03:41:55Z MA:0002742 MPheno.ontology MP:0009976 abnormal cerebellar peduncle morphology MP:0009976 any structural anomaly of any of the three large paired bundles of nerve fibers that connect the cerebellum to the brain stem https://orcid.org/0000-0003-3691-0324 any anomaly in the movement of cerebellar granule cell neurons from the germinal zone into the granule cell layer of the cerebellum along radial glia fibers during development of the cerebellar cortex csmith 2010-02-08T04:16:50Z MPheno.ontology MP:0009977 abnormal cerebellar granule cell migration MP:0009977 any anomaly in the movement of cerebellar granule cell neurons from the germinal zone into the granule cell layer of the cerebellum along radial glia fibers during development of the cerebellar cortex https://orcid.org/0000-0003-3691-0324 any structural anomaly in the region of the cerebellum consisting of myelinated axons lying deep to the granule cell layer, excluding the deep cerebellar nuclei and the cerebellar peduncles csmith 2010-02-11T09:46:07Z MA:0002430 MPheno.ontology MP:0009978 abnormal cerebellum white matter morphology MP:0009978 any structural anomaly in the region of the cerebellum consisting of myelinated axons lying deep to the granule cell layer, excluding the deep cerebellar nuclei and the cerebellar peduncles http://purl.obolibrary.org/obo/UBERON_0002317 any structural anomaly of the gray matter nuclei located in the center of the cerebellum, embedded in the white matter, which receive inhibitory (GABAergic) inputs from Purkinje cells in the cerebellar cortex and excitatory (glutamatergic) inputs from mossy fiber pathways; all output fibers of the cerebellum originate from the these nuclei csmith 2010-02-11T09:46:40Z MA:0000203 abnormal cerebellum deep nuclei morphology MPheno.ontology MP:0009979 abnormal cerebellum deep nucleus morphology MP:0009979 any structural anomaly of the gray matter nuclei located in the center of the cerebellum, embedded in the white matter, which receive inhibitory (GABAergic) inputs from Purkinje cells in the cerebellar cortex and excitatory (glutamatergic) inputs from mossy fiber pathways; all output fibers of the cerebellum originate from the these nuclei http://www.spiritus-temporis.com/cerebellum/anatomy.html any structural anomaly of the largest and most lateral of the deep cerebellum nuclei; it receives axons of Purkinje cells in the lateral cerebellar hemisphere (neocerebellum) and receives its afferents from the premotor cortex and the supplementary motor cortex through the pontocerebellar system, and its efferents project through the superior cerebellar peduncle and is a major source of its fibers csmith 2010-02-11T10:27:56Z MA:0001008 abnormal cerebellum lateral nucleus morphology abnormal corpus dentatum morphology abnormal dentate cerebellar nucleus morphology abnormal lateral cerebellar nucleus morphology MPheno.ontology MP:0009980 abnormal cerebellum dentate nucleus morphology MP:0009980 any structural anomaly of the largest and most lateral of the deep cerebellum nuclei; it receives axons of Purkinje cells in the lateral cerebellar hemisphere (neocerebellum) and receives its afferents from the premotor cortex and the supplementary motor cortex through the pontocerebellar system, and its efferents project through the superior cerebellar peduncle and is a major source of its fibers ISBN:0-683-40008-8 any structural anomaly of the small wedge shaped nucleus interposed between the dentate and fastigial nuclei; it receives axons from Purkinje cells of the intermediate area of the cerebral hemispheres and most of its efferent connections travel via the superior cerebellar peduncle csmith 2010-02-11T10:29:00Z abnormal anterior interposed nucleus morphology abnormal anterior interpositus nucleus morphology abnormal embolus morphology MPheno.ontology MP:0009981 abnormal cerebellum emboliform nucleus morphology MP:0009981 any structural anomaly of the small wedge shaped nucleus interposed between the dentate and fastigial nuclei; it receives axons from Purkinje cells of the intermediate area of the cerebral hemispheres and most of its efferent connections travel via the superior cerebellar peduncle ISBN:0-683-40008-8 any structural anomaly of the two or three small masses of gray matter that is located medial to the emboliform nucleus and lateral to the fastigial nucleus; it receives axons from the intermediate area of the cerebellar hemispheres and its afferents exit through the superior cerebellar peduncle; it is recognized in human cerebellum but is not distinguishable in all mammalian species csmith 2010-02-11T10:29:35Z abnormal posterior interposed nucleus morphology abnormal posterior interpositus nucleus morphology MPheno.ontology MP:0009982 abnormal cerebellum globose nucleus morphology MP:0009982 any structural anomaly of the two or three small masses of gray matter that is located medial to the emboliform nucleus and lateral to the fastigial nucleus; it receives axons from the intermediate area of the cerebellar hemispheres and its afferents exit through the superior cerebellar peduncle; it is recognized in human cerebellum but is not distinguishable in all mammalian species ISBN:0-683-40008-8 any structural anomaly of the most medial of the cerebellar nuclei; it receives its afferent input from Purkinje cells of the flocculonodular lobe and the vermis, and most of its efferent connections travel via the inferior cerebellar peduncle to the vestibular nuclei and to the medullary reticular formation csmith 2010-02-11T10:30:15Z MA:0001009 abnormal cerebellum roof nucleus morphology abnormal cerebellum tectal nucleus morphology abnormal medial cerebellar nucleus morphology MPheno.ontology MP:0009983 abnormal cerebellum fastigial nucleus morphology MP:0009983 any structural anomaly of the most medial of the cerebellar nuclei; it receives its afferent input from Purkinje cells of the flocculonodular lobe and the vermis, and most of its efferent connections travel via the inferior cerebellar peduncle to the vestibular nuclei and to the medullary reticular formation ISBN:0-683-40008-8 any structural anomaly of the nucleus composed of the globose and emboliform nuclei of the cerebellum; in some mammalian species the globose nucleus is not distinguishable csmith 2010-02-11T11:51:12Z abnormal cerebellum interposed nucleus morphology MPheno.ontology MP:0009984 abnormal cerebellum interpositus nucleus morphology MP:0009984 any structural anomaly of the nucleus composed of the globose and emboliform nuclei of the cerebellum; in some mammalian species the globose nucleus is not distinguishable ISBN:0-683-40008-8 any structural anomaly of the paired cerebellar peduncles that connects the medulla spinalis and medulla oblongata with the cerebellum, and is composed of juxtarestiform body and restiform body; it carries many types of input and output fibers that are mainly concerned with integrating proprioceptive sensory input with motor vestibular functions such as balance and posture maintenance csmith 2010-02-11T12:50:42Z MPheno.ontology MP:0009985 abnormal inferior cerebellar peduncle morphology MP:0009985 any structural anomaly of the paired cerebellar peduncles that connects the medulla spinalis and medulla oblongata with the cerebellum, and is composed of juxtarestiform body and restiform body; it carries many types of input and output fibers that are mainly concerned with integrating proprioceptive sensory input with motor vestibular functions such as balance and posture maintenance ISBN:0-683-40008-8 any structural anomaly of the largest of the three paired cerebellar peduncles; it is composed mainly of afferent fibers that originate within the pontine nuclei as part of the massive corticopontocerebellar tract, whose fibers descend from the sensory and motor areas of the cerebral neocortex, through the pons and into the cerebellar nuclei and cortex csmith 2010-02-11T12:50:42Z MPheno.ontology MP:0009986 abnormal middle cerebellar peduncle morphology MP:0009986 any structural anomaly of the largest of the three paired cerebellar peduncles; it is composed mainly of afferent fibers that originate within the pontine nuclei as part of the massive corticopontocerebellar tract, whose fibers descend from the sensory and motor areas of the cerebral neocortex, through the pons and into the cerebellar nuclei and cortex ISBN:0-683-40008-8 any structural anomaly of the major output pathway of the cerebellum; most of the efferent fibers originate within the cerebellum dentate nucleus and cerebellum interpositus nuclei, which in turn project to various midbrain structures including the red nucleus, the ventral lateral/ventral anterior nucleus of the thalamus, and the medulla; most of the fibers that pass through this peduncle are involved in pathways important in motor planning csmith 2010-02-11T12:50:42Z MPheno.ontology MP:0009987 abnormal superior cerebellar peduncle morphology MP:0009987 any structural anomaly of the major output pathway of the cerebellum; most of the efferent fibers originate within the cerebellum dentate nucleus and cerebellum interpositus nuclei, which in turn project to various midbrain structures including the red nucleus, the ventral lateral/ventral anterior nucleus of the thalamus, and the medulla; most of the fibers that pass through this peduncle are involved in pathways important in motor planning ISBN:0-683-40008-8 any structural anomaly of the rostral most of the vermis lobules csmith 2010-02-11T02:23:06Z abnormal ungula lobule morphology MPheno.ontology MP:0009988 abnormal cerebellum vermis lobule I morphology MP:0009988 any structural anomaly of the rostral most of the vermis lobules PMID:22083600 any structural anomaly of the lobule found just caudal to lobule I csmith 2010-02-11T02:23:06Z abnormal central lobule morphology anterior part MPheno.ontology MP:0009989 The central lobule (lobules II/III) is a single structure in humans, but it is divided by the posterior superior fissure in rodents. abnormal cerebellum vermis lobule II morphology MP:0009989 any structural anomaly of the lobule found just caudal to lobule I PMID:22083600 any structural anomaly of the lobule found just caudal to lobule II csmith 2010-02-11T02:23:06Z abnormal central lobule morphology posterior part MPheno.ontology MP:0009990 The central lobule (lobules II/III) is a single structure in humans, but it is divided by the posterior superior fissure in rodents. abnormal cerebellum vermis lobule III morphology MP:0009990 any structural anomaly of the lobule found just caudal to lobule II PMID:22083600 any structural anomaly of the lobule found just caudal to lobule III csmith 2010-02-11T02:23:06Z abnormal culmen lobule morphology anterior part MPheno.ontology MP:0009991 The culmen lobule (lobules IV/V) is a single structure in humans, but it is divided by the intraculminate fissure in many rodents. In some mouse strains such as SLJ/J, the intraculminate fissure is absent, in some strains such as DBA/2J it is present, and other strains (C57BL/10J and BALB/cJ) exhibit considerable variablility (PMID:1953602). abnormal cerebellum vermis lobule IV morphology MP:0009991 any structural anomaly of the lobule found just caudal to lobule III PMID:22083600 any structural anomaly of the lobule found just caudal to lobule VIII csmith 2010-02-11T02:23:06Z abnormal uvula lobule morphology abnormal vermal uvula morphology MPheno.ontology MP:0009992 abnormal cerebellum vermis lobule IX morphology MP:0009992 any structural anomaly of the lobule found just caudal to lobule VIII PMID:22083600 any structural anomaly of the lobule found just caudal to lobule IV csmith 2010-02-11T02:23:06Z abnormal culmen lobule morphology posterior part MPheno.ontology MP:0009993 The culmen lobule (lobules IV/V) is a single structure in humans, but it is divided by the intraculminate fissure in many rodents. In some mouse strains such as SLJ/J, the intraculminate fissure is absent, in some strains such as DBA/2J it is present, and other strains (C57BL/10J and BALB/cJ) exhibit considerable variablility (PMID:1953602). abnormal cerebellum vermis lobule V morphology MP:0009993 any structural anomaly of the lobule found just caudal to lobule IV PMID:22083600 any structural anomaly of the lobule found just caudal to lobule V csmith 2010-02-11T02:23:06Z abnormal declive lobule morphology MPheno.ontology MP:0009994 abnormal cerebellum vermis lobule VI morphology MP:0009994 any structural anomaly of the lobule found just caudal to lobule V PMID:22083600 any structural anomaly of the lobule found just caudal to lobule VI csmith 2010-02-11T02:23:06Z abnormal folium lobule morphology abnormal tuber lobule morphology MPheno.ontology MP:0009995 In rodents, vermis lobule VII is a single structure. In humans, it is cleft by the horizontal fissure into distinct folium (VIIa) and tuber (VIIb) lobules. abnormal cerebellum vermis lobule VII morphology MP:0009995 any structural anomaly of the lobule found just caudal to lobule VI PMID:22083600 any structural anomaly of the lobule found just caudal to lobule VII csmith 2010-02-11T02:23:06Z abnormal cerebellar pyramid morphology abnormal pyramid of vermis morphology abnormal pyramis of cerebellum morphology abnormal vermal pyramis morphology MPheno.ontology MP:0009996 abnormal cerebellum vermis lobule VIII morphology MP:0009996 any structural anomaly of the lobule found just caudal to lobule VII PMID:22083600 any structural anomaly of the caudal most lobule csmith 2010-02-11T02:23:06Z abnormal nodulus lobule morphology MPheno.ontology MP:0009997 abnormal cerebellum vermis lobule X morphology MP:0009997 any structural anomaly of the caudal most lobule PMID:22083600 any structural anomaly of the division of the vermis lobule VII that is a short, narrow, concealed band at the posterior extremity of the vermis csmith 2010-02-12T11:14:53Z abnormal folium lobule morphology abnormal folium of vermis morphology abnormal folium vermis morphology MPheno.ontology MP:0009998 In rodents, vermis lobule VII is a single structure. In humans, it is cleft by the horizontal fissure into distinct folium (VIIa) and tuber (VIIb) lobules. abnormal cerebellum vermis lobule VIIa morphology MP:0009998 any structural anomaly of the division of the vermis lobule VII that is a short, narrow, concealed band at the posterior extremity of the vermis https://www.imaios.com/en/e-anatomy/anatomical-structure/tuber-of-vermis-1553805000?from=2 any structural anomaly in the posterior division of the vermis lobule VII, it is of small size, and laterally spreads out into the large inferior semilunar lobules csmith 2010-02-12T11:16:00Z abnormal tuber dorsale morphology abnormal tuber lobule morphology abnormal tuber of vermis morphology abnormal tuber valvulae morphology abnormal tuber vermis morphology MPheno.ontology MP:0009999 In rodents, vermis lobule VII is a single structure. In humans, it is cleft by the horizontal fissure into distinct folium (VIIa) and tuber (VIIb) lobules. abnormal cerebellum vermis lobule VIIb morphology MP:0009999 any structural anomaly in the posterior division of the vermis lobule VII, it is of small size, and laterally spreads out into the large inferior semilunar lobules https://www.imaios.com/en/e-anatomy/anatomical-structure/tuber-of-vermis-1553805000?from=2 csmith 2010-02-12T11:19:18Z abnormal COP morphology MPheno.ontology MP:0010000 This is a structure present in rodents and is not present in humans. The cerebellum hemisphere structure and lobulation is dramatically different between these species. abnormal copula pyramidis morphology MP:0010000 any structural anomaly in the lobule comprising the greater part of the hemisphere of the cerebellum; its superior and inferior surfaces are separated by the horizontal fissure into major parts known as crus I and crus II csmith 2010-02-12T11:20:47Z MPheno.ontology MP:0010001 This is a structure present in rodents and is not present in humans. The cerebellum hemisphere structure and lobulation is dramatically different between these species. abnormal ansiform lobule morphology MP:0010001 any structural anomaly in the lobule comprising the greater part of the hemisphere of the cerebellum; its superior and inferior surfaces are separated by the horizontal fissure into major parts known as crus I and crus II http://purl.obolibrary.org/obo/UBERON_0005348 csmith 2010-02-12T11:21:16Z MPheno.ontology MP:0010002 This is a structure present in rodents and is not present in humans. The cerebellum hemisphere structure and lobulation is dramatically different between these species. abnormal ansiform lobule crus I morphology MP:0010002 csmith 2010-02-12T11:21:38Z MPheno.ontology MP:0010003 This is a structure present in rodents and is not present in humans. The cerebellum hemisphere structure and lobulation is dramatically different between these species. abnormal ansiform lobule crus II morphology MP:0010003 any structural anomaly in the anterior portion of the posteroinferior lobule of the cerebellum csmith 2010-02-12T11:22:59Z abnormal paramedial lobule morphology abormal PML morphology MPheno.ontology MP:0010004 This is a structure present in rodents and is not present in humans. The cerebellum hemisphere structure and lobulation is dramatically different between these species. abnormal paramedian lobule morphology MP:0010004 any structural anomaly in the anterior portion of the posteroinferior lobule of the cerebellum UBERON:0005349 csmith 2010-02-12T11:24:12Z abnormal LS morphology abnormal simple lobule morphology MPheno.ontology MP:0010005 This is a structure present in rodents and is not present in humans. The cerebellum hemisphere structure and lobulation is dramatically different between these species. abnormal lobule simplex morphology MP:0010005 any structural anomaly of the small region of the cerebellum that receives input from the inferior and medial vestibular nuclei and sends fibers back to the vestibular nuclei, and processes and integrates these signals to allow for the constant maintenance of balance csmith 2010-02-12T11:28:41Z MPheno.ontology MP:0010006 This is a structure present in both rodents and humans, but the location and morphology is dramatically different between these species. abnormal flocculus morphology MP:0010006 any structural anomaly of the small region of the cerebellum that receives input from the inferior and medial vestibular nuclei and sends fibers back to the vestibular nuclei, and processes and integrates these signals to allow for the constant maintenance of balance ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 any structural anomaly in the lateral part of the flocculus of the cerebellum that receives and integrates multi-modal sensory inputs csmith 2010-02-12T11:29:15Z MPheno.ontology MP:0010007 This is a structure present in both rodents and humans, but the location and morphology is dramatically different between these species. abnormal paraflocculus morphology MP:0010007 any structural anomaly in the lateral part of the flocculus of the cerebellum that receives and integrates multi-modal sensory inputs https://api.research-repository.uwa.edu.au/ws/portalfiles/portal/13016536/accepted_manuscript_VOGLER_hearing_research.pdf https://en.wiktionary.org/wiki/paraflocculus any anomaly in the movement of immature Purkinje cells from the ventricular zone of the fourth ventricle along radial glial cells to the forming Purkinje cell layer during development of the cerebellar cortex csmith 2010-02-15T11:34:30Z abnormal Purkinje neuron migration MPheno.ontology MP:0010008 abnormal Purkinje cell migration MP:0010008 any anomaly in the movement of immature Purkinje cells from the ventricular zone of the fourth ventricle along radial glial cells to the forming Purkinje cell layer during development of the cerebellar cortex https://orcid.org/0000-0003-3691-0324 any structural anomaly of the subdivision of the laminated olfactory cortex with only three main layers that receive monosynaptic input from the olfactory bulb via the lateral olfactory tract; it is located bilaterally in the ventrolateral forebrain and is commonly divided into anterior and posterior regions csmith 2010-02-16T12:49:07Z MA:0000978 abnormal piriform area morphology abnormal primary olfactory cortex morphology abnormal pyriform cortex morphology MPheno.ontology abnormal lateral olfactory gyrus morphology MP:0010009 abnormal piriform cortex morphology MP:0010009 any structural anomaly of the subdivision of the laminated olfactory cortex with only three main layers that receive monosynaptic input from the olfactory bulb via the lateral olfactory tract; it is located bilaterally in the ventrolateral forebrain and is commonly divided into anterior and posterior regions PMID:17714095 any structural anomaly of the seven small groups of granule cells in the polymorph layer of the olfactory tubercle and one large group, the insula magna, which lies along the border between septum, nucleus accumbens and nucleus of the diagonal band csmith 2010-02-16T02:00:17Z MA:0000977 MPheno.ontology MP:0010010 The islands of Calleja are located within the olfactory tubercle in most species; however, in primates these islands are located within the nucleus accumbens, since the olfactory tubercle is absent or extremely rudimentary in the brains of primates. We have currently placed this term as a child of both abnormal nucleus accumbens morphology and abnormal olfactory tubercle morphology but we may need to reconsider this placement. abnormal islands of Calleja morphology MP:0010010 any structural anomaly of the seven small groups of granule cells in the polymorph layer of the olfactory tubercle and one large group, the insula magna, which lies along the border between septum, nucleus accumbens and nucleus of the diagonal band PMID:80412 the hippocampus pyramidal cell body resides in places other than the pyramidal cell layer of the hippocampus csmith 2010-02-16T02:38:08Z ectopic hippocampus pyramidal neurons MPheno.ontology MP:0010011 ectopic hippocampus pyramidal cells MP:0010011 the hippocampus pyramidal cell body resides in places other than the pyramidal cell layer of the hippocampus https://orcid.org/0000-0003-3691-0324 the cerebral cortex pyramidal cell body resides in places other than the pyramidal cell layer of the cerebral cortex csmith 2010-02-16T02:39:06Z ectopic cerebral cortex pyramidal neurons MPheno.ontology MP:0010012 ectopic cerebral cortex pyramidal cells MP:0010012 the cerebral cortex pyramidal cell body resides in places other than the pyramidal cell layer of the cerebral cortex https://orcid.org/0000-0003-3691-0324 a retrogressive impairment or destruction of the projection neuron in the pyramidal layer of the cerebral cortex csmith 2010-02-16T02:45:00Z cerebral cortex pyramidal neuron degeneration MPheno.ontology MP:0010013 cerebral cortex pyramidal cell degeneration MP:0010013 a retrogressive impairment or destruction of the projection neuron in the pyramidal layer of the cerebral cortex https://orcid.org/0000-0003-3691-0324 a retrogressive impairment or destruction of a multipolar projection neuron in the hippocampus pyramidal cell layer csmith 2010-02-16T02:46:16Z hippocampal pyramidal cell degeneration hippocampus pyramidal neuron degeneration MPheno.ontology MP:0010014 hippocampus pyramidal cell degeneration MP:0010014 a retrogressive impairment or destruction of a multipolar projection neuron in the hippocampus pyramidal cell layer https://orcid.org/0000-0003-3691-0324 any structural anomaly of the firm laminar network of actin filaments in the organ of Corti to which the apical ends of the cochlear hair cells attach and through which their stereocilia project csmith 2010-02-16T04:25:17Z MPheno.ontology MP:0010015 abnormal cuticular plate morphology MP:0010015 any structural anomaly of the firm laminar network of actin filaments in the organ of Corti to which the apical ends of the cochlear hair cells attach and through which their stereocilia project PMID:12324381 absence or loss of normal pigment in the skin in various and irregular patterns csmith 2010-02-17T03:11:22Z MP:0002198 vitiligo white skin spotting MPheno.ontology MP:0010016 variable depigmentation MP:0010016 absence or loss of normal pigment in the skin in various and irregular patterns MGI:llw2 obstruction of the normal flux of blood within the blood vessel network of the internal organs enclosed within the cavity of the body, such as the thoracic, abdominal, endocrine, and pelvic organs csmith 2010-02-17T03:19:25Z MPheno.ontology MP:0010017 visceral vascular congestion MP:0010017 obstruction of the normal flux of blood within the blood vessel network of the internal organs enclosed within the cavity of the body, such as the thoracic, abdominal, endocrine, and pelvic organs https://orcid.org/0000-0002-6490-7723 obstruction of the normal flux of blood within the blood vessel network of the lung resulting in engorgement of pulmonary vessels; frequently precedes pulmonary edema csmith 2010-02-17T03:20:42Z MP:0010888 PVC congested lung vasculature lung vascular congestion pulmonary congestion MPheno.ontology MP:0010018 pulmonary vascular congestion MP:0010018 obstruction of the normal flux of blood within the blood vessel network of the lung resulting in engorgement of pulmonary vessels; frequently precedes pulmonary edema https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 obstruction of the normal flux of blood within the blood vessel network of the liver csmith 2010-02-17T03:22:02Z congested liver vasculature hepatic vascular congestion MPheno.ontology MP:0010019 liver vascular congestion MP:0010019 obstruction of the normal flux of blood within the blood vessel network of the liver https://orcid.org/0000-0002-6490-7723 obstruction of the normal flux of blood within the blood vessel network of the spleen csmith 2010-02-17T03:28:26Z congested spleen vasculature splenic vascular congestion MPheno.ontology MP:0010020 spleen vascular congestion MP:0010020 obstruction of the normal flux of blood within the blood vessel network of the spleen https://orcid.org/0000-0002-6490-7723 obstruction of the normal flux of blood within the blood vessel network of the heart csmith 2010-02-17T03:30:24Z cardiac vascular congestion congested vasculature of the heart heart congestion MPheno.ontology MP:0010021 heart vascular congestion MP:0010021 obstruction of the normal flux of blood within the blood vessel network of the heart https://orcid.org/0000-0002-6490-7723 obstruction of the normal flux of blood within the blood vessel network of the brain csmith 2010-02-17T03:36:18Z congested brain vasculature MPheno.ontology MP:0010022 brain vascular congestion MP:0010022 obstruction of the normal flux of blood within the blood vessel network of the brain https://orcid.org/0000-0002-6490-7723 obstruction of the normal flux of blood within the blood vessel network of the cerebrum csmith 2010-02-17T03:53:44Z MPheno.ontology MP:0010023 cerebral vascular congestion MP:0010023 obstruction of the normal flux of blood within the blood vessel network of the cerebrum https://orcid.org/0000-0003-3691-0324 greater than the normal total amount of connective tissue composed of fat cells within the entire body csmith 2010-02-22T12:58:49Z MP:0005453 increased adipose tissue amount increased adiposity increased total body adipose tissue amount MPheno.ontology increased body fat MP:0010024 increased total body fat amount MP:0010024 greater than the normal total amount of connective tissue composed of fat cells within the entire body https://orcid.org/0000-0003-3691-0324 less than the normal total amount of connective tissue composed of fat cells within the entire body csmith 2010-02-22T01:41:16Z MP:0005454 decreased adipose tissue amount decreased adiposity decreased total adipose tissue amount reduced adipose tissue amount reduced total adipose tissue amount reduced total body fat amount MPheno.ontology decreased body fat MP:0010025 decreased total body fat amount MP:0010025 less than the normal total amount of connective tissue composed of fat cells within the entire body https://orcid.org/0000-0003-3691-0324 less than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues csmith 2010-02-24T03:00:30Z decreased hepatic cholesterol level reduced liver cholesterol level MPheno.ontology reduced hepatic cholesterol level MP:0010026 decreased liver cholesterol level MP:0010026 less than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues https://orcid.org/0000-0003-3691-0324 greater than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues csmith 2010-02-24T03:00:50Z increased hepatic cholesterol level MPheno.ontology MP:0010027 increased liver cholesterol level MP:0010027 greater than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues https://orcid.org/0000-0003-3691-0324 excretion of urine with an acid pH csmith 2010-02-24T03:07:00Z MPheno.ontology MP:0010028 aciduria MP:0010028 excretion of urine with an acid pH https://orcid.org/0000-0002-6490-7723 any structural anomaly of the sloping floor of the cranial cavity that is comprised of parts of the ethmoidal, occipital and sphenoid bones 2010-03-01T01:05:40Z MP:0005273 abnormal base of skull morphology abnormal basis cranii morphology abnormal cranial base morphology basicranium dysplasia cranial base dysplasia MPheno.ontology MP:0010029 abnormal basicranium morphology MP:0010029 any structural anomaly of the sloping floor of the cranial cavity that is comprised of parts of the ethmoidal, occipital and sphenoid bones ISBN:0-683-40008-8 any structural anomaly of the bony ring that supports the eyeball and supporting tissues and is formed by parts of several cranial bones csmith 2010-03-01T01:21:37Z MP:0005246 MA:0002482 abnormal eye socket morphology abnormal orbit orbit abnormalities MPheno.ontology MP:0010030 In human, the orbit is comprised of parts of seven cranial bones (frontal, maxillary, sphenoid, lacrimal, zygomatic, ethmoidal and palatine). In mouse, the orbit is comprised of parts of eight cranial bones (maxilla, lacrimal, zygomatic, frontal, temporal, sphenoid, ethmoid, and palatine). abnormal orbit morphology MP:0010030 any structural anomaly of the bony ring that supports the eyeball and supporting tissues and is formed by parts of several cranial bones ISBN:0-683-40008-8 deviation from the average range of cranium size compared to normal csmith 2010-03-01T01:35:41Z MPheno.ontology abnormal skull size MP:0010031 abnormal cranium size MP:0010031 deviation from the average range of cranium size compared to normal https://orcid.org/0000-0003-3691-0324 MP:0020957 csmith 2010-03-01T03:23:56Z MPheno.ontology MP:0010032 obsolete meiotic drive true MP:0010032 inability of the penis to retract back into the prepuce/foreskin; entrapment of a retracted foreskin behind the coronal sulcus csmith 2010-03-02T03:34:34Z MPheno.ontology MP:0010033 paraphimosis MP:0010033 inability of the penis to retract back into the prepuce/foreskin; entrapment of a retracted foreskin behind the coronal sulcus MGI:mberry any anomaly in the selective elimination of aging erythrocytes from the body by autoregulatory mechanisms, often expressed as half-life csmith 2010-03-02T03:44:19Z abnormal RBC clearance abnormal red blood cell clearance MPheno.ontology MP:0010034 abnormal erythrocyte clearance MP:0010034 any anomaly in the selective elimination of aging erythrocytes from the body by autoregulatory mechanisms, often expressed as half-life GO:0034102 https://orcid.org/0000-0003-3691-0324 increased elimination of aging erythrocytes from the body by autoregulatory mechanisms, often expressed as half-life csmith 2010-03-02T03:51:36Z increased RBC clearance increased red blood cell clearance MPheno.ontology MP:0010035 increased erythrocyte clearance MP:0010035 increased elimination of aging erythrocytes from the body by autoregulatory mechanisms, often expressed as half-life GO:0034102 https://orcid.org/0000-0003-3691-0324 decreased elimination of aging erythrocytes from the body by autoregulatory mechanisms, often expressed as half-life csmith 2010-03-02T03:52:09Z decreased RBC clearance decreased red blood cell clearance reduced RBC clearance reduced erythrocyte clearance reduced red blood cell clearance MPheno.ontology MP:0010036 decreased erythrocyte clearance MP:0010036 decreased elimination of aging erythrocytes from the body by autoregulatory mechanisms, often expressed as half-life GO:0034102 https://orcid.org/0000-0003-3691-0324 pigment producing cells are not located in the normal or expected position csmith 2010-03-03T10:09:29Z MPheno.ontology MP:0010037 ectopic melanocytes MP:0010037 pigment producing cells are not located in the normal or expected position https://orcid.org/0000-0003-3691-0324 any functional anomaly of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin csmith 2010-03-03T10:33:47Z MPheno.ontology MP:0010038 abnormal placenta physiology MP:0010038 any functional anomaly of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin https://orcid.org/0000-0003-3691-0324 abnormality in the expansion rate of the trophoblast giant cell population by cell division csmith 2010-03-03T10:37:42Z MPheno.ontology MP:0010039 abnormal trophoblast giant cell proliferation MP:0010039 abnormality in the expansion rate of the trophoblast giant cell population by cell division https://orcid.org/0000-0003-3691-0324 any structural anomaly of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes csmith 2010-03-03T10:47:13Z CL:1000036 abnormal LPC morphology abnormal adult liver progenitor cell morphology abnormal hepatic oval cell morphology abnormal hepatic oval stem cell morphology MPheno.ontology MP:0010040 abnormal oval cell morphology MP:0010040 any structural anomaly of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes PMID:16237666 absence of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes csmith 2010-03-03T10:57:11Z CL:1000036 aabsent LPCs absent adult liver progenitor cells absent hepatic oval cells MPheno.ontology MP:0010041 absent oval cells MP:0010041 absence of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes PMID:16237666 any functional anomaly of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes csmith 2010-03-03T11:01:11Z CL:1000036 abnormal LPC physiology abnormal adult liver progenitor cell physiology abnormal hepatic oval cell physiology MPheno.ontology MP:0010042 abnormal oval cell physiology MP:0010042 any functional anomaly of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes PMID:16237666 any structural anomaly of the dense, fibrous connective tissue joint between the frontal and nasal bones csmith 2010-03-03T11:44:24Z MPheno.ontology MP:0010043 abnormal frontonasal suture morphology MP:0010043 any structural anomaly of the dense, fibrous connective tissue joint between the frontal and nasal bones ISBN:0-683-40008-8 any structural anomaly of the encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon csmith 2010-03-03T11:58:15Z abnormal omental fat depot morphology MPheno.ontology MP:0010044 abnormal omental fat pad morphology MP:0010044 any structural anomaly of the encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon ISBN:0-683-40008-8 greater than average weight of the encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon csmith 2010-03-03T12:04:27Z increased omental fat depot weight MPheno.ontology MP:0010045 increased omental fat pad weight MP:0010045 greater than average weight of the encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon ISBN:0-683-40008-8 less than average weight of the encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon csmith 2010-03-03T12:04:44Z decreased omental fat depot weight reduced omental fat depot weight MPheno.ontology MP:0010046 decreased omental fat pad weight MP:0010046 less than average weight of the encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon ISBN:0-683-40008-8 focal 10-50 micron diameter swellings of axons, which are sometimes, but not always, terminal endbulbs, and are filled with disorganized neurofilaments, tubules, organelles or multi-lamellar inclusions csmith 2010-03-03T12:26:56Z axonal beading axonal beads beaded axons MPheno.ontology MP:0010047 axonal spheroids MP:0010047 focal 10-50 micron diameter swellings of axons, which are sometimes, but not always, terminal endbulbs, and are filled with disorganized neurofilaments, tubules, organelles or multi-lamellar inclusions PMID:15644421 PMID:31628183 PMID:32330411 any anomaly in the process by which the primitive streak disappears during gastrulation, when the node moves back to a posterior position csmith 2010-03-03T12:44:07Z MPheno.ontology MP:0010048 abnormal primitive streak regression MP:0010048 any anomaly in the process by which the primitive streak disappears during gastrulation, when the node moves back to a posterior position https://orcid.org/0000-0003-3691-0324 true MP:0010049 increased myelin formation in a myelin sheath over all or part of an axon or fiber tract, usually resulting in a thicker myelin sheath csmith 2010-03-03T01:21:00Z increased myelination MPheno.ontology MP:0010050 hypermyelination MP:0010050 increased myelin formation in a myelin sheath over all or part of an axon or fiber tract, usually resulting in a thicker myelin sheath https://orcid.org/0000-0003-3691-0324 true MP:0010051 greater ability to grasp and hold objects, often measured as time spent hanging from an object or wire csmith 2010-03-03T01:33:45Z MPheno.ontology MP:0010052 increased grip strength MP:0010052 greater ability to grasp and hold objects, often measured as time spent hanging from an object or wire ISBN:0471316393 reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire csmith 2010-03-03T01:34:19Z reduced grip strength MPheno.ontology MP:0010053 decreased grip strength MP:0010053 reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire ISBN:0471316393 greater than the expected number of a malignant neoplasm occurring primarily in the liver and composed of tissue resembling embryonic or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues, occurring in a specific population in a given time period csmith 2010-03-03T03:22:41Z MPheno.ontology hepatic blastoma hepatoblastoma liver blastoma MP:0010054 increased hepatoblastoma incidence MP:0010054 greater than the expected number of a malignant neoplasm occurring primarily in the liver and composed of tissue resembling embryonic or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues, occurring in a specific population in a given time period https://orcid.org/0000-0002-6490-7723 any functional anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses csmith 2010-03-03T04:06:33Z MPheno.ontology MP:0010055 abnormal sensory neuron physiology MP:0010055 any functional anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses ISBN:0-683-40008-8 skeletal muscle is located in a position not normally occupied by this tissue type csmith 2010-03-04T02:09:05Z heterotopic skeletal muscle MPheno.ontology MP:0010056 ectopic skeletal muscle MP:0010056 skeletal muscle is located in a position not normally occupied by this tissue type https://orcid.org/0000-0003-3691-0324 any structural anomaly of the outermost layer of the olfactory bulb; consists primarily of olfactory afferent axons and ensheathing glia csmith 2010-03-05T12:10:15Z abnormal olfactory bulb ONL morphology MPheno.ontology MP:0010057 abnormal olfactory bulb outer nerve layer morphology MP:0010057 any structural anomaly of the outermost layer of the olfactory bulb; consists primarily of olfactory afferent axons and ensheathing glia PMID:12533617 increased size of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex csmith 2010-03-05T01:38:37Z increased olfactory bulb size MPheno.ontology MP:0010058 enlarged olfactory bulb MP:0010058 increased size of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the olfactory bulb, typically resulting in decreased size csmith 2010-03-05T01:45:03Z hypoplastic olfactory bulb MPheno.ontology MP:0010059 olfactory bulb hypoplasia MP:0010059 decrease in the number of normal cells in normal arrangement in the olfactory bulb, typically resulting in decreased size ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 anomaly in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized csmith 2010-03-09T11:21:46Z abnormal creatine concentration abnormal creatin concentration abnormal phosphocreatine concentration MPheno.ontology MP:0010060 abnormal creatine level MP:0010060 anomaly in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized https://orcid.org/0000-0003-3691-0324 increase in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized csmith 2010-03-09T12:06:31Z increased creatin concentration increased creatine concentration increased phosphocreatine concentration MPheno.ontology MP:0010061 increased creatine level MP:0010061 increase in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized https://orcid.org/0000-0003-3691-0324 reduction in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized csmith 2010-03-09T12:06:51Z decreased creatin concentration reduced creatin concentration reduced creatine level decreased creatine concentration decreased phosphocreatine concentration reduced phosphocreatine concentration MPheno.ontology MP:0010062 decreased creatine level MP:0010062 reduction in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized https://orcid.org/0000-0003-3691-0324 anomaly in the amount per unit of blood of an amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized csmith 2010-03-09T12:07:10Z abnormal circulating creatin concentration abnormal circulating creatine concentration MPheno.ontology MP:0010063 abnormal circulating creatine level MP:0010063 anomaly in the amount per unit of blood of an amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized https://orcid.org/0000-0003-3691-0324 increase in the amount per unit of blood of an amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized csmith 2010-03-09T12:07:29Z increased circulating creatin concentration increased circulating creatine concentration MPheno.ontology MP:0010064 increased circulating creatine level MP:0010064 increase in the amount per unit of blood of an amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized https://orcid.org/0000-0003-3691-0324 reduction in the amount per unit of blood of an amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized csmith 2010-03-09T12:07:58Z decreased circulating creatin concentration decreased circulating creatine concentration reduced circulating creatin concentration reduced circulating creatine concentration MPheno.ontology MP:0010065 decreased circulating creatine level MP:0010065 reduction in the amount per unit of blood of an amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized https://orcid.org/0000-0003-3691-0324 an anomaly in the coefficient of variance (reference range) of the red blood cell volume for an organism csmith 2010-03-09T03:18:27Z abnormal RBC distribution width abnormal RBC size variability abnormal RDW abnormal erythrocyte distribution width abnormal red blood cell size variability MPheno.ontology MP:0010066 abnormal red blood cell distribution width MP:0010066 an anomaly in the coefficient of variance (reference range) of the red blood cell volume for an organism NCI:C64800 https://orcid.org/0000-0003-3691-0324 higher than normal coefficient of variance (reference range) of the red blood cell volume for an organism csmith 2010-03-09T03:40:51Z high RDW high red blood cell distribution width increased RBC distribution width increased RBC size variability increased erythrocyte distribution width increased red blood cell size variability MPheno.ontology MP:0010067 increased red blood cell distribution width MP:0010067 higher than normal coefficient of variance (reference range) of the red blood cell volume for an organism NCI:C64800 https://orcid.org/0000-0003-3691-0324 lower than normal coefficient of variance (reference range) of the red blood cell volume for an organism csmith 2010-03-09T03:40:51Z decreased RBC distribution width decreased RBC size variability decreased erythrocyte distribution width decreased red blood cell size variability low RDW low red blood cell distribution width reduced RBC distribution width reduced RDW reduced erythrocyte distribution width reduced red blood cell distribution width reduced red blood cell size variability MPheno.ontology MP:0010068 decreased red blood cell distribution width MP:0010068 lower than normal coefficient of variance (reference range) of the red blood cell volume for an organism NCI:C64800 https://orcid.org/0000-0003-3691-0324 increase in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity csmith 2010-03-12T02:44:09Z increased 5-HT level increased 5-hydroxytryptamine level increased enteramine level increased hydroxytryptamine level MPheno.ontology increased hippophaine level increased serotonin concentration MP:0010069 increased serotonin level MP:0010069 increase in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity ISBN:0-683-40008-8 reduction in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity csmith 2010-03-12T02:44:38Z decreased 5-HT level decreased 5-hydroxytryptamine level decreased enteramine level decreased hippophaine level decreased hydroxytryptamine level reduced serotonin concentration reduced serotonin level MPheno.ontology decreased serotonin concentration MP:0010070 decreased serotonin level MP:0010070 reduction in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity ISBN:0-683-40008-8 anomaly in the normal absence or presence of an uncomfortable sensation resulting from irritation of the skin or mucous membranes that evokes the desire or reflex to rub or scratch csmith 2010-03-12T02:58:04Z abnormal itch reaction abnormal itchiness response MPheno.ontology MP:0010071 abnormal pruritus MP:0010071 anomaly in the normal absence or presence of an uncomfortable sensation resulting from irritation of the skin or mucous membranes that evokes the desire or reflex to rub or scratch ISBN:0-683-40008-8 abnormal presence or increased intensity of an uncomfortable sensation resulting from irritation of the skin or mucous membranes that evokes the desire or reflex to rub or scratch csmith 2010-03-12T03:29:34Z increased itch reponse increased itchiness MPheno.ontology MP:0010072 increased pruritus MP:0010072 abnormal presence or increased intensity of an uncomfortable sensation resulting from irritation of the skin or mucous membranes that evokes the desire or reflex to rub or scratch ISBN:0-683-40008-8 absence or decreased intensity of an uncomfortable sensation resulting from irritation of the skin or mucous membranes that evokes the desire or reflex to rub or scratch csmith 2010-03-12T03:32:39Z decreased itch response decreased itchiness MPheno.ontology MP:0010073 decreased pruritus MP:0010073 absence or decreased intensity of an uncomfortable sensation resulting from irritation of the skin or mucous membranes that evokes the desire or reflex to rub or scratch ISBN:0-683-40008-8 deformation of red blood cells to a cup-like shape, with swelling and with an elongated area of central pallor, instead of the normal biconcave shape csmith 2010-03-12T03:38:16Z hydrocytosis increased fish mouth cell number increased mouth-shaped erythrocyte number MPheno.ontology increased stomatocyte number MP:0010074 stomatocytosis MP:0010074 deformation of red blood cells to a cup-like shape, with swelling and with an elongated area of central pallor, instead of the normal biconcave shape ISBN:0-683-40008-8 anomaly in the amount of phytosterols in the blood; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol csmith 2010-03-12T03:51:43Z abnormal circulating phytosterol concentration abnormal circulating plant sterol concentration abnormal circulating plant sterol level MPheno.ontology MP:0010075 abnormal circulating phytosterol level MP:0010075 anomaly in the amount of phytosterols in the blood; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol https://orcid.org/0000-0003-3691-0324 anomaly in the amount of plant sterols often as a result of hyperabsorbtion of phytosterols and decreased biliary excretion of dietary sterols;commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol csmith 2010-03-12T03:53:35Z abnormal plant sterol concentration abnormal plant sterol level MPheno.ontology MP:0010076 abnormal phytosterol level MP:0010076 anomaly in the amount of plant sterols often as a result of hyperabsorbtion of phytosterols and decreased biliary excretion of dietary sterols;commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol ISBN:0-683-40008-8 increased amount of plant sterols often as a result of hyperabsorbtion of phytosterols and decreased biliary excretion of dietary sterols; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol csmith 2010-03-12T03:55:49Z increased plant sterol concentration increased plant sterol level phytosterolemia sitosterolemia MPheno.ontology MP:0010077 increased phytosterol level MP:0010077 increased amount of plant sterols often as a result of hyperabsorbtion of phytosterols and decreased biliary excretion of dietary sterols; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol ISBN:0-683-40008-8 increase in the amount of phytosterols in the blood; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol csmith 2010-03-12T04:02:19Z increased circulating phytosterol concentration increased circulating plant sterol concentration increased circulating plant sterol level MPheno.ontology MP:0010078 increased circulating phytosterol level MP:0010078 increase in the amount of phytosterols in the blood; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol https://orcid.org/0000-0003-3691-0324 greater than the expected number of a benign cartilagenous neoplasm that consists of a pedicle of normal bone capped by a region of proliferating cartilage cells, occurring in a specific population in a given time period; osteochondroma is most often associated with one or more of the long bones csmith 2010-03-19T02:34:32Z MPheno.ontology osteochondroma MP:0010079 increased osteochondroma incidence MP:0010079 greater than the expected number of a benign cartilagenous neoplasm that consists of a pedicle of normal bone capped by a region of proliferating cartilage cells, occurring in a specific population in a given time period; osteochondroma is most often associated with one or more of the long bones ISBN:0-683-40008-8 any functional anomaly of the main structural specialized epithelial cells which normally organize into interconnected plates called lobules csmith 2010-03-23T01:37:46Z MPheno.ontology MP:0010080 abnormal hepatocyte physiology MP:0010080 any functional anomaly of the main structural specialized epithelial cells which normally organize into interconnected plates called lobules https://orcid.org/0000-0003-3691-0324 reduced average size of the back of the eye csmith 2010-03-26T03:59:01Z MPheno.ontology MP:0010081 posterior microphthalmia MP:0010081 reduced average size of the back of the eye MGI:llw2 appearance of one or more sternebrae as a single structure csmith 2010-03-26T04:04:26Z fused sternebrae sternebrae fusion sternebral fusion MPheno.ontology MP:0010082 sternebra fusion MP:0010082 appearance of one or more sternebrae as a single structure https://orcid.org/0000-0002-6490-7723 true MP:0010083 any structural anomaly of a fully differentiated plasma cell that lives for years, as opposed to months, secretes immunoglobulin, and has the phenotype weakly CD19-positive, CD20-negative, CD38-negative, strongly CD138-positive, MHC Class II-negative, surface immunoglobulin-negative, IgD-negative, and strongly CXCR4-positive; the majority of these cells of this type reside in the bone marrow csmith 2010-03-29T10:53:46Z MPheno.ontology MP:0010084 abnormal long lived plasma cell morphology MP:0010084 any structural anomaly of a fully differentiated plasma cell that lives for years, as opposed to months, secretes immunoglobulin, and has the phenotype weakly CD19-positive, CD20-negative, CD38-negative, strongly CD138-positive, MHC Class II-negative, surface immunoglobulin-negative, IgD-negative, and strongly CXCR4-positive; the majority of these cells of this type reside in the bone marrow CL:0000974 any structural anomaly of a fully differentiated plasma cell that lives for months, not years csmith 2010-03-29T10:56:46Z MPheno.ontology MP:0010085 abnormal short lived plasma cell morphology MP:0010085 any structural anomaly of a fully differentiated plasma cell that lives for months, not years CL:0000975 any anomaly in the concentration in the blood of total non enzymatic glycated proteins in the blood csmith 2010-03-29T11:03:21Z abnormal circulating GSP level abnormal circulating glycated serum protein level MPheno.ontology MP:0010086 abnormal circulating fructosamine level MP:0010086 any anomaly in the concentration in the blood of total non enzymatic glycated proteins in the blood https://orcid.org/0000-0003-3691-0324 increase in the concentration in the blood of total non enzymatic glycated proteins in the blood csmith 2010-03-29T11:27:53Z increased circulating GSP level increased circulating glycated serum protein level MPheno.ontology MP:0010087 increased circulating fructosamine level MP:0010087 increase in the concentration in the blood of total non enzymatic glycated proteins in the blood https://orcid.org/0000-0003-3691-0324 decrease in the concentration in the blood of total non enzymatic glycated proteins in the blood csmith 2010-03-29T11:30:42Z decreased circulating GSP level decreased circulating glycated serum protein level reduced circulating GSP level reduced circulating fructosamine level reduced circulating glycated serum protein level MPheno.ontology MP:0010088 decreased circulating fructosamine level MP:0010088 decrease in the concentration in the blood of total non enzymatic glycated proteins in the blood https://orcid.org/0000-0003-3691-0324 any anomaly in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine csmith 2010-03-29T12:56:17Z abnormal circulating CK level abnormal circulating CPK level abnormal circulating creatine phosphokinase level abnormal circulating creatinine kinase level abnormal circulating phospho-creatine kinase level MPheno.ontology MP:0010089 There is ambiguity in the literature regarding the terms creatinine kinase and creatine kinase. Most resources insist that creatine kinase is correct. See PMID:17174558 and PMID:14624200 not to mention Wikipedia. Creatine kinase is an enzyme found in the heart, brain, skeletal muscle, and other tissues. Increased amounts of CK are released into the blood when there is muscle damage. The small amount of CK that is normally in the blood comes primarily from skeletal muscles. abnormal circulating creatine kinase level MP:0010089 any anomaly in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine https://orcid.org/0000-0003-3691-0324 an elevation in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine csmith 2010-03-29T12:56:45Z elevated circulating CK level elevated circulating CPK level elevated circulating creatine kinase level elevated circulating creatine phosphokinase level elevated circulating creatinine kinase level elevated circulating phospho-creatine kinase level increased circulating CK level increased circulating CPK level increased circulating creatine phosphokinase level increased circulating creatinine kinase level increased circulating phospho-creatine kinase level MPheno.ontology MP:0010090 There is ambiguity in the literature regarding the terms creatinine kinase and creatine kinase. Most resources insist that creatine kinase is correct. See PMID:17174558 and PMID:14624200 not to mention Wikipedia. Creatine kinase is an enzyme found in the heart, brain, skeletal muscle, and other tissues. Increased amounts of CK are released into the blood when there is muscle damage. The small amount of CK that is normally in the blood comes primarily from skeletal muscles. increased circulating creatine kinase level MP:0010090 an elevation in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine https://orcid.org/0000-0003-3691-0324 a reduction in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine csmith 2010-03-29T12:56:51Z decreased circulating CK level decreased circulating CPK level decreased circulating creatine phosphokinase level decreased circulating creatinine kinase level decreased circulating phospho-creatine kinase level reduced circulating CK level reduced circulating CPK level reduced circulating creatine kinase level reduced circulating creatine phosphokinase level reduced circulating creatinine kinase level reduced circulating phospho-creatine kinase level MPheno.ontology MP:0010091 There is ambiguity in the literature regarding the terms creatinine kinase and creatine kinase. Most resources insist that creatine kinase is correct. See PMID:17174558 and PMID:14624200 not to mention Wikipedia. Creatine kinase is an enzyme found in the heart, brain, skeletal muscle, and other tissues. Increased amounts of CK are released into the blood when there is muscle damage. The small amount of CK that is normally in the blood comes primarily from skeletal muscles. decreased circulating creatine kinase level MP:0010091 a reduction in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine https://orcid.org/0000-0003-3691-0324 an elevation in the blood concentration of magnesium csmith 2010-03-29T01:33:11Z elevated circulating magnesium level hypermagnesaemia hypermagnesemia MPheno.ontology MP:0010092 increased circulating magnesium level MP:0010092 an elevation in the blood concentration of magnesium ISBN:0-683-40008-8 a reduction in the blood concentration of magnesium csmith 2010-03-29T01:33:34Z hypomagnesaemia hypomagnesemia reduced circulating magnesium level MPheno.ontology MP:0010093 decreased circulating magnesium level MP:0010093 a reduction in the blood concentration of magnesium ISBN:0-683-40008-8 anomaly in the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an reduced rate of loss of heterozygosity csmith 2010-03-29T01:43:05Z MPheno.ontology MP:0010094 abnormal chromosome stability MP:0010094 anomaly in the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an reduced rate of loss of heterozygosity MGI:llw2 https://orcid.org/0000-0003-3691-0324 decrease in the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an reduced rate of loss of heterozygosity csmith 2010-03-29T01:43:48Z MPheno.ontology MP:0010095 increased chromosomal stability MP:0010095 decrease in the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an reduced rate of loss of heterozygosity MGI:llw2 https://orcid.org/0000-0003-3691-0324 anomaly in the color and shading of the incisor, which normally presents in shades of white csmith 2010-03-29T01:47:52Z abnormal incisor colour MPheno.ontology MP:0010096 abnormal incisor color MP:0010096 anomaly in the color and shading of the incisor, which normally presents in shades of white PMID:12407097 any structural anomaly of any of the blood vessels supplying the retina csmith 2010-03-29T02:18:50Z abnormal retinal blood vessel morphology abnormal retinal blood vessel structure MPheno.ontology MP:0010097 abnormal retina blood vessel morphology MP:0010097 any structural anomaly of any of the blood vessels supplying the retina https://orcid.org/0000-0003-3691-0324 anomaly in the systematic arrangement of the blood vessels supplying the retina csmith 2010-03-29T02:18:59Z abnormal retinal blood vessel pattern MPheno.ontology MP:0010098 abnormal retina blood vessel pattern MP:0010098 anomaly in the systematic arrangement of the blood vessels supplying the retina https://orcid.org/0000-0003-3691-0324 anomaly in the overall regular dome shape of the ribcage csmith 2010-03-29T02:26:00Z abnormal rib cage shape abnormal ribcage shape abnormal thoracic basket shape MPheno.ontology MP:0010099 abnormal thoracic cage shape MP:0010099 anomaly in the overall regular dome shape of the ribcage https://orcid.org/0000-0003-3691-0324 increased number of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull csmith 2010-03-29T03:40:08Z MPheno.ontology MP:0010100 increased cervical vertebrae number MP:0010100 increased number of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull https://orcid.org/0000-0003-3691-0324 increase of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae csmith 2010-03-29T03:40:58Z MPheno.ontology MP:0010101 increased sacral vertebrae number MP:0010101 increase of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae https://orcid.org/0000-0003-3691-0324 increased number of the bony segments of the coccyx or tail csmith 2010-03-29T03:41:53Z increased tail vertebrae number MPheno.ontology MP:0010102 increased caudal vertebrae number MP:0010102 increased number of the bony segments of the coccyx or tail https://orcid.org/0000-0003-3691-0324 reduced size of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum csmith 2010-04-01T09:37:12Z decreased thoracic cage size reduced thoracic cage size small rib cage small ribcage small thoracic basket MPheno.ontology MP:0010103 small thoracic cage MP:0010103 reduced size of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum https://orcid.org/0000-0003-3691-0324 increased size of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum csmith 2010-04-01T09:37:36Z enlarged rib cage enlarged ribcage enlarged thoracic basket increased thoracic cage size MPheno.ontology MP:0010104 enlarged thoracic cage MP:0010104 increased size of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum https://orcid.org/0000-0003-3691-0324 any structural anomaly of the small parasympathetic ganglion found anterior to the submandibular gland that provides postsynaptic fibers to the sublingual gland csmith 2010-04-08T12:19:52Z MA:0002982 abnormal lingual ganglion morphology MPheno.ontology MP:0010105 abnormal sublingual ganglion morphology MP:0010105 any structural anomaly of the small parasympathetic ganglion found anterior to the submandibular gland that provides postsynaptic fibers to the sublingual gland ISBN:0-683-40008-8 abnormal concentration in the blood of the phosphotransferase in the glycolytic pathway that catalyzes the transfer of phosphate from phosphoenolpyruvate to ADP, forming ATP and p; deficiency results in hemolytic anemia csmith 2010-04-08T01:26:15Z abnormal circulating ATP:pyruvate 2-O-phosphotransferase level abnormal circulating phosphoenol transphosphorylase level abnormal circulating phosphoenolpyruvate kinase level MPheno.ontology MP:0010106 abnormal circulating pyruvate kinase level MP:0010106 abnormal concentration in the blood of the phosphotransferase in the glycolytic pathway that catalyzes the transfer of phosphate from phosphoenolpyruvate to ADP, forming ATP and p; deficiency results in hemolytic anemia ISBN:0-683-40008-8 any anomaly in the two-step process beginning with the active or passive extraction of substances (such as water, glucose, oligopeptides, amino acids, sodium (Na+) and other ions) from the renal tubule fluid into the renal interstitium, and the subsequent transport of these substances out of the renal interstitium back into the bloodstream; reabsorption begins in the proximal convoluted tubules and continues in the loop of Henle, distal convoluted tubules, and collecting tubules csmith 2010-04-09T10:41:11Z GO:0070293 abnormal kidney reabsorption abnormal kidney reuptake abnormal kidney uptake abnormal nephron absorption abnormal renal reuptake abnormal renal uptake abnormal renal basolateral membrane transport abnormal renal basolateral membrane uptake abnormal renal brush border transport abnormal renal brush border uptake MPheno.ontology MP:0010107 abnormal renal reabsorption MP:0010107 any anomaly in the two-step process beginning with the active or passive extraction of substances (such as water, glucose, oligopeptides, amino acids, sodium (Na+) and other ions) from the renal tubule fluid into the renal interstitium, and the subsequent transport of these substances out of the renal interstitium back into the bloodstream; reabsorption begins in the proximal convoluted tubules and continues in the loop of Henle, distal convoluted tubules, and collecting tubules https://orcid.org/0000-0002-6490-7723 any anomaly in the process by which water is passively transported out of the renal tubules back into the bloodstream csmith 2010-04-09T10:46:15Z abnormal kidney water reabsorption abnormal nephron water absorption abnormal renal water absorption MPheno.ontology MP:0010108 abnormal renal water reabsorption MP:0010108 any anomaly in the process by which water is passively transported out of the renal tubules back into the bloodstream https://orcid.org/0000-0002-6490-7723 any anomaly in the process by which sodium ions are transported out of the renal tubules back into the bloodstream csmith 2010-04-09T10:47:28Z abnormal kidney sodium reabsorption abnormal renal sodium ion reabsorption MPheno.ontology MP:0010109 abnormal renal sodium reabsorption MP:0010109 any anomaly in the process by which sodium ions are transported out of the renal tubules back into the bloodstream https://orcid.org/0000-0002-6490-7723 any anomaly in the process by which phosphate (salt or ester of phosphoric acid) is transported out of the renal tubules back into the bloodstream csmith 2010-04-09T10:48:24Z abnormal kidney phosphate reabsorption abnormal phosphate reuptake MPheno.ontology MP:0010110 abnormal renal phosphate reabsorption MP:0010110 any anomaly in the process by which phosphate (salt or ester of phosphoric acid) is transported out of the renal tubules back into the bloodstream https://orcid.org/0000-0002-6490-7723 any anomaly in the process by which calcium ions are transported out of the renal tubules back into the bloodstream csmith 2010-04-09T10:49:27Z abnormal kidney calcium reabsorption abnormal renal calcium absorption abnormal renal calcium ion reabsorption MPheno.ontology MP:0010111 abnormal renal calcium reabsorption MP:0010111 any anomaly in the process by which calcium ions are transported out of the renal tubules back into the bloodstream https://orcid.org/0000-0002-6490-7723 any structural anomaly of the 3-5 separate or fused bony segments of the coccyx MP:0002759 abnormal coccyx vertebra MPheno.ontology MP:0010112 In humans and other tailless primates (e.g. great apes), the coccyx is the remnant or a vestigial tail. It consists of 3-5 separate or fused vertebrae (the coccygeal vertebrae) below the sacrum. obsolete abnormal coccygeal vertebrae morphology true MP:0010112 any structural anomaly of the 3-5 separate or fused bony segments of the coccyx https://orcid.org/0000-0003-3691-0324 any structural anomaly of the segment of the vertebral column that is formed by the fusion of five sacral vertebrae in adult humans and tailless primates csmith 2010-04-09T12:50:12Z abnormal vertebra magna morphology MPheno.ontology MP:0010113 abnormal sacrum morphology MP:0010113 any structural anomaly of the segment of the vertebral column that is formed by the fusion of five sacral vertebrae in adult humans and tailless primates ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the rostral-most segment of the vertebral column that is formed by the fusion of three to five coccygeal vertebrae in adult humans and tailless primates csmith 2010-04-09T01:06:05Z abnormal tail bone morphology MPheno.ontology MP:0010114 In humans and other tailless primates (e.g. great apes), the coccyx is the remnant of a vestigial tail. It consists of 3-5 separate or fused vertebrae (the coccygeal vertebrae) below the sacrum. abnormal coccyx morphology MP:0010114 any structural anomaly of the rostral-most segment of the vertebral column that is formed by the fusion of three to five coccygeal vertebrae in adult humans and tailless primates ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm csmith 2010-04-12T12:32:44Z MPheno.ontology MP:0010115 abnormal embryonic cloaca morphology MP:0010115 any structural anomaly of the endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm https://orcid.org/0000-0002-6490-7723 any structural anomaly of the ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females csmith 2010-04-12T12:33:14Z abnormal UGS morphology MPheno.ontology MP:0010116 Note that the term "urogenital sinus" may refer to the primitive urogenital sinus present as a transient developmental structure in most mammals or it may refer to a condition in which an unseptated cloaca persists in animals longer than normal. abnormal primitive urogenital sinus morphology MP:0010116 any structural anomaly of the ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females ISBN:0-683-40008-8 any structural anomaly of the portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures csmith 2010-04-12T01:16:08Z abnormal LPM morphology abnormal lateral mesenchyme morphology abnormal lateral mesoderm abnormal lateral plate mesenchyme MPheno.ontology MP:0010117 abnormal lateral plate mesoderm morphology MP:0010117 any structural anomaly of the portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures ISBN:0-683-40008-8 any anomaly of the band of mesoderm located between the segmented paraxial mesoderm and the lateral plate mesoderm, that develops into the nephrogenic cord csmith 2010-04-12T01:16:29Z intermediate cell mass MPheno.ontology MP:0010118 abnormal intermediate mesoderm morphology MP:0010118 any anomaly of the band of mesoderm located between the segmented paraxial mesoderm and the lateral plate mesoderm, that develops into the nephrogenic cord ISBN:0-683-40008-8 anomaly in the quatitative measurment of mineral content of bone; BMD is used as an indicator of bone strength; bone mineral density is the ratio of bone mineral content to bone size csmith 2010-04-12T01:56:16Z MP:0005007 abnormal BMD abnormal bone density bone density anomalies MPheno.ontology MP:0010119 abnormal bone mineral density MP:0010119 anomaly in the quatitative measurment of mineral content of bone; BMD is used as an indicator of bone strength; bone mineral density is the ratio of bone mineral content to bone size ISBN:0-683-40008-8 true MP:0010120 true MP:0010121 any anomaly in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area csmith 2010-04-12T02:01:05Z abnormal BMC MPheno.ontology MP:0010122 abnormal bone mineral content MP:0010122 any anomaly in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area https://orcid.org/0000-0003-3691-0324 elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area csmith 2010-04-12T02:01:31Z elevated BMC elevated bone mineral content increased BMC MPheno.ontology MP:0010123 increased bone mineral content MP:0010123 elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area https://orcid.org/0000-0003-3691-0324 reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area csmith 2010-04-12T02:02:01Z decreased BMC reduced BMC reduced bone mineral content MPheno.ontology MP:0010124 decreased bone mineral content MP:0010124 reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area https://orcid.org/0000-0003-3691-0324 any structural anomaly of the secretory neurons of the paraventricular nucleus that synthesize and secrete vasopressin, corticotropin-releasing factor (CRF) and thyrotropin-releasing hormone (TRH) into blood vessels in the hypothalamo-pituitary portal system csmith 2010-04-12T03:13:01Z abnormal parvocellular neuron morphology abnormal parvocellular neurosecretory neuron morphology MPheno.ontology MP:0010125 abnormal parvocellular neurosecretory cell morphology MP:0010125 any structural anomaly of the secretory neurons of the paraventricular nucleus that synthesize and secrete vasopressin, corticotropin-releasing factor (CRF) and thyrotropin-releasing hormone (TRH) into blood vessels in the hypothalamo-pituitary portal system PMID:8543155 any structural anomaly of the precursors of the anterior visceral endoderm that arises at the distal tip of the embryo csmith 2010-04-12T04:06:42Z abnormal DVE morphology MPheno.ontology MP:0010126 abnormal distal visceral endoderm morphology MP:0010126 any structural anomaly of the precursors of the anterior visceral endoderm that arises at the distal tip of the embryo PMID:17387317 https://orcid.org/0000-0003-3691-0324 an abnormally increased amount of space occupied by blood in the vessels csmith 2010-04-13T03:58:30Z high blood volume hypervolaemia increased plasma volume MPheno.ontology MP:0010127 hypervolemia MP:0010127 an abnormally increased amount of space occupied by blood in the vessels https://orcid.org/0000-0002-6490-7723 an abnormally decreased amount of space occupied by blood in the vessels csmith 2010-04-13T03:59:21Z hypovolaemia decreased plasma volume MPheno.ontology MP:0010128 hypovolemia MP:0010128 an abnormally decreased amount of space occupied by blood in the vessels https://orcid.org/0000-0002-6490-7723 increased number of pro-T cells that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative csmith 2010-04-14T02:51:59Z CL:0000894 increased DN1 thymic pro-T lymphocyte number increased DN1 thymic pro-T-cell number increased DN1 thymic pro-T-lymphocyte number increased DN1 thymic progenitor T cell number increased DN1 thymocyte number MPheno.ontology MP:0010129 increased DN1 thymic pro-T cell number MP:0010129 increased number of pro-T cells that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative CL:0000894 reduced number of pro-T cells that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative csmith 2010-04-14T02:53:53Z CL:0000894 decreased DN1 thymic pro-T lymphocyte number decreased DN1 thymic pro-T-cell number decreased DN1 thymic pro-T-lymphocyte number decreased DN1 thymic progenitor T cell number decreased DN1 thymocyte number reduced DN1 thymic pro-T cell number reduced DN1 thymic pro-T lymphocyte number reduced DN1 thymic pro-T-cell number reduced DN1 thymic pro-T-lymphocyte number reduced DN1 thymic progenitor T cell number reduced DN1 thymocyte number MPheno.ontology MP:0010130 decreased DN1 thymic pro-T cell number MP:0010130 reduced number of pro-T cells that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative CL:0000894 increased number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive csmith 2010-04-14T02:57:06Z CL:0000806 increased DN2 alpha-beta immature T lymphocyte number increased DN2 alpha-beta immature T-cell number increased DN2 alpha-beta immature T-lymphocyte number increased DN2 cell number increased DN2 immature T cell number increased TN2 cell number increased TN2 thymocyte number MPheno.ontology MP:0010131 Note that this type of thymocyte is at the earliest stage of T cell receptor rearrangement of the beta, gamma, and delta T cell receptor chains. increased DN2 thymocyte number MP:0010131 increased number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive CL:0000806 reduced number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive csmith 2010-04-14T02:59:07Z CL:0000806 decreased DN2 alpha-beta immature T lymphocyte number decreased DN2 alpha-beta immature T-cell number decreased DN2 alpha-beta immature T-lymphocyte number decreased DN2 cell number decreased DN2 immature T cell number decreased TN2 cell number decreased TN2 thymocyte number reduced DN2 alpha-beta immature T lymphocyte number reduced DN2 alpha-beta immature T-cell number reduced DN2 alpha-beta immature T-lymphocyte number reduced DN2 cell number reduced DN2 immature T cell number reduced DN2 thymocyte number reduced TN2 cell number reduced TN2 thymocyte number MPheno.ontology MP:0010132 Note that this type of thymocyte is at the earliest stage of T cell receptor rearrangement of the beta, gamma, and delta T cell receptor chains. decreased DN2 thymocyte number MP:0010132 reduced number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive CL:0000806 increased number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. csmith 2010-04-14T02:59:28Z CL:0000807 increased DN3 alpha-beta immature T lymphocyte number increased DN3 alpha-beta immature T-cell number increased DN3 alpha-beta immature T-lymphocyte number increased DN3 cell number increased DN3 immature T cell number increased TN3 cell number increased TN3 thymocyte number MPheno.ontology MP:0010133 increased DN3 thymocyte number MP:0010133 increased number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. CL:0000807 reduced number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. csmith 2010-04-14T02:59:48Z CL:0000807 decreased DN3 alpha-beta immature T lymphocyte number decreased DN3 alpha-beta immature T-cell number decreased DN3 alpha-beta immature T-lymphocyte number decreased DN3 cell number decreased DN3 immature T cell number decreased TN3 cell number decreased TN3 thymocyte number reduced DN3 alpha-beta immature T lymphocyte number reduced DN3 alpha-beta immature T-cell number reduced DN3 alpha-beta immature T-lymphocyte number reduced DN3 cell number reduced DN3 immature T cell number reduced DN3 thymocyte number reduced TN3 cell number reduced TN3 thymocyte number MPheno.ontology MP:0010134 decreased DN3 thymocyte number MP:0010134 reduced number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. CL:0000807 increased number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. csmith 2010-04-14T03:00:10Z CL:0000808 increased DN4 alpha-beta immature T lymphocyte number increased DN4 alpha-beta immature T-lymphocyte number increased DN4 cell number increased DN4 immature T cell number increased DN4 immature T-cell number MPheno.ontology MP:0010135 Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and beginning to rearrange the T cell receptor alpha chain. increased DN4 thymocyte number MP:0010135 increased number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. CL:0000808 reduced number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. csmith 2010-04-14T03:00:30Z CL:0000808 decreased DN4 alpha-beta immature T lymphocyte number decreased DN4 alpha-beta immature T-lymphocyte number decreased DN4 cell number decreased DN4 immature T cell number decreased DN4 immature T-cell number reduced DN4 alpha-beta immature T lymphocyte number reduced DN4 alpha-beta immature T-lymphocyte number reduced DN4 cell number reduced DN4 immature T cell number reduced DN4 immature T-cell number reduced DN4 thymocyte number MPheno.ontology MP:0010136 Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and beginning to rearrange the T cell receptor alpha chain. decreased DN4 thymocyte number MP:0010136 reduced number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. CL:0000808 anomaly in the growth phase of the hair cycle resulting a prolonged anagen phase csmith 2010-05-05T11:20:34Z extended anagen phase increased anagen phase duration prolonged anagen phase MPheno.ontology MP:0010137 delayed exit from anagen phase MP:0010137 anomaly in the growth phase of the hair cycle resulting a prolonged anagen phase https://orcid.org/0000-0002-8404-2907 extended anagen phase https://orcid.org/0000-0002-6490-7723 increased anagen phase duration https://orcid.org/0000-0002-6490-7723 prolonged anagen phase https://orcid.org/0000-0002-6490-7723 inflammation of the walls of arteries, usually as a result of infection or autoimmune response csmith 2010-05-05T11:33:59Z arterial inflammation MPheno.ontology MP:0010138 arteritis MP:0010138 inflammation of the walls of arteries, usually as a result of infection or autoimmune response https://orcid.org/0000-0002-6490-7723 inflammation of the aorta csmith 2010-05-05T11:35:09Z aorta inflammation MPheno.ontology MP:0010139 aortitis MP:0010139 inflammation of the aorta https://orcid.org/0000-0002-6490-7723 inflammation of a vein csmith 2010-05-05T11:37:22Z vein inflammation venous inflammation MPheno.ontology MP:0010140 phlebitis MP:0010140 inflammation of a vein https://orcid.org/0000-0002-6490-7723 inflammation of the lymphatic vessels/channels csmith 2010-05-05T11:38:46Z lymph vessel inflammation lymphatic channel inflammation lymphatic vessel inflammation MPheno.ontology MP:0010141 lymphangitis MP:0010141 inflammation of the lymphatic vessels/channels https://orcid.org/0000-0002-6490-7723 derangement of the normal pattern of the layered structure of the cuticle, cortex and/or medulla of a hair csmith 2010-05-05T03:27:36Z disorganised hair shaft MPheno.ontology MP:0010142 disorganized hair shaft MP:0010142 derangement of the normal pattern of the layered structure of the cuticle, cortex and/or medulla of a hair https://orcid.org/0000-0003-3691-0324 increased physiological ability to produce live offspring csmith 2010-05-10T12:43:08Z increased fertility MPheno.ontology MP:0010143 enhanced fertility MP:0010143 increased physiological ability to produce live offspring https://orcid.org/0000-0003-0431-8641 aberrant process of blood vessel formation and the subsequent remodeling process within and/or around tumors csmith 2010-05-10T01:02:25Z abnormal tumor angiogenesis abnormal tumour angiogenesis abnormal tumour vascularization MPheno.ontology MP:0010144 abnormal tumor vascularization MP:0010144 aberrant process of blood vessel formation and the subsequent remodeling process within and/or around tumors https://orcid.org/0000-0003-0431-8641 any structural anomaly of the cord-like structure in males comprising the vas deferens and associated tissue that runs from the abdomen down to each testis csmith 2010-05-10T02:31:11Z MPheno.ontology MP:0010145 abnormal spermatic cord morphology MP:0010145 any structural anomaly of the cord-like structure in males comprising the vas deferens and associated tissue that runs from the abdomen down to each testis MGI:llw2 an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close csmith 2010-05-10T02:40:34Z Fyler:4445 MPheno.ontology MP:0010146 Do not confuse with omphalocele - a severe body wall defect that results in an abnormally large umbilical ring usually exposing the gut and liver. umbilical hernia MP:0010146 an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close PMID:20333300 https://orcid.org/0000-0003-4606-0597 any functional anomaly of the smaller portion of the pancreas that secretes a number of hormones into the blood stream that are produced by the cells in the islets of Langerhans csmith 2010-05-10T03:24:28Z MPheno.ontology MP:0010147 abnormal endocrine pancreas physiology MP:0010147 any functional anomaly of the smaller portion of the pancreas that secretes a number of hormones into the blood stream that are produced by the cells in the islets of Langerhans https://orcid.org/0000-0003-3691-0324 any functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes csmith 2010-05-10T03:24:55Z MPheno.ontology MP:0010148 abnormal exocrine pancreas physiology MP:0010148 any functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes MESH:A03.734.540 https://orcid.org/0000-0003-3691-0324 aberrant secretion across synapses of the catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary csmith 2010-05-10T03:41:12Z MPheno.ontology MP:0010149 abnormal synaptic dopamine release MP:0010149 aberrant secretion across synapses of the catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary https://orcid.org/0000-0003-3691-0324 any structural anomaly of the upturned perpendicular extremity of the mandible csmith 2010-05-10T04:12:38Z abnormal mandible ramus morphology MPheno.ontology MP:0010150 abnormal mandibular ramus morphology MP:0010150 any structural anomaly of the upturned perpendicular extremity of the mandible ISBN:0-683-40008-8 any structural anomaly of the cellular membrane that lines the central canal of the spinal cord csmith 2010-05-11T10:47:16Z abnormal spinal cord ventricular layer morphology MPheno.ontology MP:0010151 abnormal spinal cord ependymal layer morphology MP:0010151 any structural anomaly of the cellular membrane that lines the central canal of the spinal cord ISBN:0-683-40008-8 any structural anomaly of the cellular membrane that lines the brain ventricles csmith 2010-05-11T12:21:52Z MPheno.ontology MP:0010152 abnormal brain ependyma morphology MP:0010152 any structural anomaly of the cellular membrane that lines the brain ventricles ISBN:0-683-40008-8 any structural anomaly of the thick circular layer of smooth gastric musculature encircling the gastroesophageal junction that functions to reduce backflow into the esophagus from the stomach csmith 2010-05-11T03:05:45Z abnormal esophageal sphincter morphology abnormal oesophageal sphincter morphology MA:0002951 abnormal cardiac sphincter morphology abnormal inferior esophageal sphincter morphology abnormal inferior oesophageal sphincter morphology abnormal lower esophageal sphincter morphology abnormal lower oesophageal sphincter morphology MPheno.ontology abnormal constrictor cardiae morphology MP:0010153 abnormal gastroesophageal sphincter morphology MP:0010153 any structural anomaly of the thick circular layer of smooth gastric musculature encircling the gastroesophageal junction that functions to reduce backflow into the esophagus from the stomach ISBN:0-683-40008-8 any functional anomaly of the thick circular layer of gastric musculature encircling the gastroesophageal junction that functions to reduce backflow into the esophagus from the stomach csmith 2010-05-11T03:14:07Z abnormal esophageal sphincter physiology abnormal oesophageal sphincter physiology MA:0002951 abnormal cardiac sphincter physiology abnormal inferior esophageal sphincter physiology abnormal inferior oesophageal sphincter physiology abnormal lower esophageal sphincter physiology abnormal lower oesophageal sphincter physiology MPheno.ontology abnormal constrictor cardiae physiology MP:0010154 abnormal gastroesophageal sphincter physiology MP:0010154 any functional anomaly of the thick circular layer of gastric musculature encircling the gastroesophageal junction that functions to reduce backflow into the esophagus from the stomach ISBN:0-683-40008-8 any functional anomaly of the digestive tube passing from the stomach to the anus csmith 2010-05-12T02:04:15Z MPheno.ontology MP:0010155 abnormal intestine physiology MP:0010155 any functional anomaly of the digestive tube passing from the stomach to the anus https://orcid.org/0000-0003-3691-0324 any functional anomaly of the cells that make up the tubular intestinal glands found in the mucosal membranes of the small intestine csmith 2010-05-12T02:13:57Z MPheno.ontology MP:0010156 abnormal small intestinal crypt cell physiology MP:0010156 any functional anomaly of the cells that make up the tubular intestinal glands found in the mucosal membranes of the small intestine https://orcid.org/0000-0001-5013-1234 anomaly in the ability of the cells that make up the tubular intestinal glands found in the mucosal membranes of the small intestine to undergo expansion by cell division csmith 2010-05-12T02:15:31Z MPheno.ontology MP:0010157 abnormal small intestinal crypt cell proliferation MP:0010157 anomaly in the ability of the cells that make up the tubular intestinal glands found in the mucosal membranes of the small intestine to undergo expansion by cell division https://orcid.org/0000-0001-5013-1234 abnormal formation of the digestive tube passing from the stomach to the anus csmith 2010-05-12T02:19:24Z MPheno.ontology MP:0010158 abnormal intestine development MP:0010158 abnormal formation of the digestive tube passing from the stomach to the anus https://orcid.org/0000-0003-4606-0597 abnormal formation of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen csmith 2010-05-12T02:20:02Z MPheno.ontology MP:0010159 abnormal enterocyte differentiation MP:0010159 abnormal formation of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen https://orcid.org/0000-0003-4606-0597 greater number of cells of the central nervous system that form the insulating myelin sheath of axons in the CNS csmith 2010-05-12T02:58:43Z increased oligodendroglia number increased oligodendroglial cell number increased oligoglia number increased oligoglial cell number MPheno.ontology MP:0010160 increased oligodendrocyte number MP:0010160 greater number of cells of the central nervous system that form the insulating myelin sheath of axons in the CNS MESH:A08.637.600 https://orcid.org/0000-0003-3691-0324 less than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues csmith 2010-05-12T03:17:01Z reduced brain cholesterol level MPheno.ontology MP:0010161 decreased brain cholesterol level MP:0010161 less than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues https://orcid.org/0000-0003-3691-0324 greater than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues csmith 2010-05-12T03:18:53Z MPheno.ontology MP:0010162 increased brain cholesterol level MP:0010162 greater than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues https://orcid.org/0000-0003-3691-0324 destruction of erythrocytes such that hemoglobin is released from the cells; may occur by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity csmith 2010-05-21T02:13:18Z MP:0010164 erythrocytolysis erythrolysis haematolysis haemolysis hematolysis increased haemolysis increased hemolysis MPheno.ontology MP:0010163 hemolysis MP:0010163 destruction of erythrocytes such that hemoglobin is released from the cells; may occur by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity ISBN:0-683-40008-8 true MP:0010164 any anomaly in the expected increase in core body termperature in response to stress or anticipatory anxiety mgi 2010-05-28T02:42:40Z abnormal SIH response MPheno.ontology MP:0010165 abnormal response to stress-induced hyperthermia MP:0010165 any anomaly in the expected increase in core body termperature in response to stress or anticipatory anxiety PMID:18722480 greater increase or faster than expected increase in core body termperature in response to stress or anticipatory anxiety mgi 2010-05-28T02:47:58Z increased SIH response MPheno.ontology MP:0010166 increased response to stress-induced hyperthermia MP:0010166 greater increase or faster than expected increase in core body termperature in response to stress or anticipatory anxiety PMID:18722480 reduction or absence of the expected increase in core body termperature in response to stress or anticipatory anxiety mgi 2010-05-28T02:48:26Z decreased SIH response MPheno.ontology MP:0010167 decreased response to stress-induced hyperthermia MP:0010167 reduction or absence of the expected increase in core body termperature in response to stress or anticipatory anxiety PMID:18722480 a greater number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release mgi 2010-05-28T03:27:31Z increased suppressor T cell number increased suppressor T lymphocyte number increased suppressor T-cell number increased suppressor T-lymphocyte number CL:0000792 increased CD4-positive, CD25-positive, alpha-beta Treg number increased CD4-positive, CD25-positive, alpha-beta regulatory T lymphocyte number increased CD4-positive, CD25-positive, alpha-beta regulatory T-cell number increased CD4-positive, CD25-positive, alpha-beta regulatory T-lymphocyte number MPheno.ontology MP:0010168 increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number MP:0010168 a greater number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release ISBN:0781735149 a reduction in the number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release mgi 2010-05-28T03:28:42Z decreased suppressor T cell number decreased suppressor T lymphocyte number decreased suppressor T-cell number decreased suppressor T-lymphocyte number reduced suppressor T cell number reduced suppressor T lymphocyte number reduced suppressor T-cell number reduced suppressor T-lymphocyte number CL:0000792 decreased CD4-positive, CD25-positive, alpha-beta Treg number decreased CD4-positive, CD25-positive, alpha-beta regulatory T lymphocyte number decreased CD4-positive, CD25-positive, alpha-beta regulatory T-cell number decreased CD4-positive, CD25-positive, alpha-beta regulatory T-lymphocyte number reduced CD4-positive, CD25-positive, alpha-beta Treg number reduced CD4-positive, CD25-positive, alpha-beta regulatory T cell number reduced CD4-positive, CD25-positive, alpha-beta regulatory T lymphocyte number reduced CD4-positive, CD25-positive, alpha-beta regulatory T-cell number reduced CD4-positive, CD25-positive, alpha-beta regulatory T-lymphocyte number MPheno.ontology MP:0010169 decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number MP:0010169 a reduction in the number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release ISBN:0781735149 change in the timing or the number of glial cells undergoing programmed cell death csmith 2010-06-01T02:20:10Z abnormal glia apoptosis MPheno.ontology MP:0010170 abnormal glial cell apoptosis MP:0010170 change in the timing or the number of glial cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 any structural anomaly of the cubodial epithelial cell that is continuous with the lining of intercalated ducts that drain the pancreatic acinus; this cell type secretes a high pH solution to aid in activation of zymogens, and can differentiate into endocrine and exocrine pancreatic cell types csmith 2010-06-01T02:40:50Z abnormal centro-acinar cell of Langerhans morphology abnormal pancreatic centro-acinar cell morphology abnormal pancreatic centroacinar cell morphology MPheno.ontology MP:0010171 Centroacinar cells liet at the junction between the acinus and the ductal cells of the intercalated duct, are smaller than acinar cells, have a high nuclear-to-cytoplasm ratio, and have long cytoplasmic processes that allow contact with other cells (i.e., centroacinar, acinar, and islet cells). Some authors suggest that centroacinar cells could represent progenitor multipotent pancreatic cells and potentially be involved in malignant transformation abnormal centroacinar cell of Langerhans morphology MP:0010171 any structural anomaly of the cubodial epithelial cell that is continuous with the lining of intercalated ducts that drain the pancreatic acinus; this cell type secretes a high pH solution to aid in activation of zymogens, and can differentiate into endocrine and exocrine pancreatic cell types CL:0002080 Centroacinar cells liet at the junction between the acinus and the ductal cells of the intercalated duct, are smaller than acinar cells, have a high nuclear-to-cytoplasm ratio, and have long cytoplasmic processes that allow contact with other cells (i.e., centroacinar, acinar, and islet cells). Some authors suggest that centroacinar cells could represent progenitor multipotent pancreatic cells and potentially be involved in malignant transformation PMID:20018761 https://doi.org/10.1016/B978-0-323-34062-5.00004-2 any functional anomaly of the mammary gland epithelium which is normally enveloped by a basement membrane, embedded into fatty connective tissue stroma, and organized as a bilayer, with an inner luminal layer of secretory epithelial cells, and an outer basal layer; each cell layer expresses specific molecular markers; luminal epithelial cells are characterized by the expression of the receptors for systemic hormones, i.e. estrogens, progesterone and prolactin, whereas basal cells (aka myoepithelial cells) express smooth muscle contractile proteins; in functionally differentiated mammary gland, during lactation, luminal cells produce milk, whereas myoepithelial cells are contractile and serve for milk expulsion csmith 2010-06-01T02:55:12Z MPheno.ontology MP:0010172 abnormal mammary gland epithelium physiology MP:0010172 any functional anomaly of the mammary gland epithelium which is normally enveloped by a basement membrane, embedded into fatty connective tissue stroma, and organized as a bilayer, with an inner luminal layer of secretory epithelial cells, and an outer basal layer; each cell layer expresses specific molecular markers; luminal epithelial cells are characterized by the expression of the receptors for systemic hormones, i.e. estrogens, progesterone and prolactin, whereas basal cells (aka myoepithelial cells) express smooth muscle contractile proteins; in functionally differentiated mammary gland, during lactation, luminal cells produce milk, whereas myoepithelial cells are contractile and serve for milk expulsion http://umr144.curie.fr/en/research-groups/molecular-mechanisms-mammary-gland-development-marina-glukhova/molecular-mechanisms- https://orcid.org/0000-0002-6490-7723 increase in the expansion rate of the cells of the mammary gland epithelium by cell division csmith 2010-06-01T02:55:42Z increased mammary gland epithelium proliferation MPheno.ontology MP:0010173 increased mammary gland epithelial cell proliferation MP:0010173 increase in the expansion rate of the cells of the mammary gland epithelium by cell division https://orcid.org/0000-0003-3691-0324 decrease in the expansion rate of the cells of the mammary gland epithelium by cell division csmith 2010-06-01T03:03:57Z decreased mammary gland epithelium proliferation reduced mammary gland epithelium proliferation reduced mammary gland epithelial cell proliferation MPheno.ontology MP:0010174 decreased mammary gland epithelial cell proliferation MP:0010174 decrease in the expansion rate of the cells of the mammary gland epithelium by cell division https://orcid.org/0000-0003-3691-0324 the presence of unusually thin or flattened red blood cells that when stained show a dark center and a peripheral ring of hemoglobin, separated by a pale unstained ring containing less hemoglobin, resulting in a bull's-eye appearance and resembling a 3D sombrero when viewed under EM; seen in certain anemias, thalassemias, hemoglobinopathies, obstructive jaundice, and the post-splenectomy state csmith 2010-06-01T03:33:04Z Mexican hat erythrocytes increased Mexican hat cell number increased codocyte number increased target cell number target erythrocytes wafer-thin erythrocytes MPheno.ontology MP:0010175 leptocytosis MP:0010175 the presence of unusually thin or flattened red blood cells that when stained show a dark center and a peripheral ring of hemoglobin, separated by a pale unstained ring containing less hemoglobin, resulting in a bull's-eye appearance and resembling a 3D sombrero when viewed under EM; seen in certain anemias, thalassemias, hemoglobinopathies, obstructive jaundice, and the post-splenectomy state https://orcid.org/0000-0002-6490-7723 presence of teardrop-shaped red blood cells csmith 2010-06-01T04:00:22Z tear-shaped erythrocytes MPheno.ontology MP:0010176 dacryocytosis MP:0010176 presence of teardrop-shaped red blood cells https://orcid.org/0000-0002-6490-7723 presence of erythrocytes characterized by multiple spiny (thorn-like) cytoplasmic projections csmith 2010-06-01T04:03:45Z spiculated red blood cells spike red blood cells spikey erythrocytes spur red blood cells MPheno.ontology MP:0010177 acanthocytosis MP:0010177 presence of erythrocytes characterized by multiple spiny (thorn-like) cytoplasmic projections https://orcid.org/0000-0002-6490-7723 abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in individuals with functional hyposplenia or asplenia csmith 2010-06-01T04:06:18Z increased number of nuclear fragments in erythrocytes MPheno.ontology MP:0010178 increased number of Howell-Jolly bodies MP:0010178 abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in individuals with functional hyposplenia or asplenia https://orcid.org/0000-0002-6490-7723 coat does not have the usual smooth appearance csmith 2010-06-04T01:38:37Z MPheno.ontology MP:0010179 rough coat MP:0010179 coat does not have the usual smooth appearance https://orcid.org/0000-0003-3691-0324 greater decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction, infection or xenobiotic treatment csmith 2010-06-04T03:10:44Z MPheno.ontology MP:0010180 increased susceptibility to weight loss MP:0010180 greater decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction, infection or xenobiotic treatment https://orcid.org/0000-0003-3691-0324 smaller decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction, infection or xenobiotic treatment csmith 2010-06-04T03:15:40Z MPheno.ontology MP:0010181 decreased susceptibility to weight loss MP:0010181 smaller decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction, infection or xenobiotic treatment https://orcid.org/0000-0003-3691-0324 smaller increase in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake csmith 2010-06-04T03:16:40Z MPheno.ontology MP:0010182 decreased susceptibility to weight gain MP:0010182 smaller increase in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake https://orcid.org/0000-0003-3691-0324 any structural anomaly of a CD4-positive, alpha-beta T cell that cooperates with other lymphocytes via direct contact or cytokine release to initiate a variety of immune functions csmith 2010-06-04T03:48:29Z FMA:70572 MPheno.ontology MP:0010183 abnormal CD4-positive helper T cell morphology MP:0010183 any structural anomaly of a CD4-positive, alpha-beta T cell that cooperates with other lymphocytes via direct contact or cytokine release to initiate a variety of immune functions CL:0000492 ISBN:0781735149 any structural anomaly of a CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cell located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production csmith 2010-06-04T03:51:32Z CL:0002038 MPheno.ontology MP:0010184 abnormal T follicular helper cell morphology MP:0010184 any structural anomaly of a CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cell located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production CL:0002038 PMID:19855402 anomaly in the number of the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production csmith 2010-06-04T03:55:18Z CL:0002038 MPheno.ontology MP:0010185 abnormal T follicular helper cell number MP:0010185 anomaly in the number of the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production CL:0002038 PMID:19855402 greater number of the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production csmith 2010-06-04T03:55:39Z CL:0002038 MPheno.ontology MP:0010186 increased T follicular helper cell number MP:0010186 greater number of the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production CL:0002038 PMID:19855402 reduced number of the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production csmith 2010-06-04T03:56:04Z CL:0002038 MPheno.ontology MP:0010187 decreased T follicular helper cell number MP:0010187 reduced number of the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production CL:0002038 PMID:19855402 atypical production of or inability to produce the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production csmith 2010-06-04T03:56:29Z CL:0002038 MPheno.ontology MP:0010188 abnormal T follicular helper cell differentiation MP:0010188 atypical production of or inability to produce the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production CL:0002038 PMID:19855402 any functional anomaly of a CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cell located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production csmith 2010-06-04T03:57:37Z CL:0002038 MPheno.ontology MP:0010189 abnormal T follicular helper cell physiology MP:0010189 any functional anomaly of a CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cell located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production CL:0002038 PMID:19855402 any structural anomaly of the cells that produce pigment in the retina csmith 2010-06-07T01:58:02Z abnormal retinal melanocyte morphology MPheno.ontology MP:0010190 abnormal retina melanocyte morphology MP:0010190 any structural anomaly of the cells that produce pigment in the retina ISBN:978-1-4051-2034-0 any structural anomaly of the cells that produce pigment in the choroid csmith 2010-06-07T01:58:36Z MPheno.ontology MP:0010191 abnormal choroid melanocyte morphology MP:0010191 any structural anomaly of the cells that produce pigment in the choroid ISBN:978-1-4051-2034-0 any structural anomaly of the pigment particles in the retina csmith 2010-06-07T02:18:07Z abnormal retinal melanin granule morphology MPheno.ontology MP:0010192 abnormal retina melanin granule morphology MP:0010192 any structural anomaly of the pigment particles in the retina ISBN:978-1-4051-2034-0 any structural anomaly of the pigment particles in the choroid csmith 2010-06-07T02:18:27Z MPheno.ontology MP:0010193 abnormal choroid melanin granule morphology MP:0010193 any structural anomaly of the pigment particles in the choroid ISBN:978-1-4051-2034-0 absence of the network of vessels which carries lymph around the body csmith 2010-06-11T10:37:22Z MPheno.ontology MP:0010194 absent lymphatic vessels MP:0010194 absence of the network of vessels which carries lymph around the body ISBN:0-683-40008-8 any structural anomaly of the thin layer of flat cells that line the lymphatic vessels and form a barrier between circulating lymph in the lumen and the rest of the vessel wall csmith 2010-06-11T10:37:57Z MA:0000750 MPheno.ontology MP:0010195 abnormal lymphatic vessel endothelium morphology MP:0010195 any structural anomaly of the thin layer of flat cells that line the lymphatic vessels and form a barrier between circulating lymph in the lumen and the rest of the vessel wall https://orcid.org/0000-0003-3691-0324 any structural anomaly of the nonstriated, involuntary muscle tissue that encompasses the lymphatic vessels csmith 2010-06-11T10:38:19Z MA:0000751 MPheno.ontology MP:0010196 abnormal lymphatic vessel smooth muscle morphology MP:0010196 any structural anomaly of the nonstriated, involuntary muscle tissue that encompasses the lymphatic vessels https://orcid.org/0000-0003-3691-0324 any structural anomaly of the cells that line the lymphatic vessels csmith 2010-06-11T10:39:31Z MPheno.ontology MP:0010197 abnormal lymphatic vessel endothelial cell morphology MP:0010197 any structural anomaly of the cells that line the lymphatic vessels https://orcid.org/0000-0003-3691-0324 reduced number of the cells that line the lymphatic vessels csmith 2010-06-11T10:40:07Z reduced lymphatic vessel endothelial cell number MPheno.ontology MP:0010198 decreased lymphatic vessel endothelial cell number MP:0010198 reduced number of the cells that line the lymphatic vessels https://orcid.org/0000-0003-3691-0324 absence of the cells that line the lymphatic vessels csmith 2010-06-11T10:40:32Z MPheno.ontology MP:0010199 absent lymphatic vessel endothelial cells MP:0010199 absence of the cells that line the lymphatic vessels https://orcid.org/0000-0003-3691-0324 increased size of the lymphatic vessels which form a network that carries lymph around the body csmith 2010-06-11T10:41:07Z enlarged lymphatic vessels increased lymphatic vessel size MPheno.ontology MP:0010200 enlarged lymphatic vessel MP:0010200 increased size of the lymphatic vessels which form a network that carries lymph around the body ISBN:0-683-40008-8 true MP:0010201 focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs csmith 2010-06-11T03:01:23Z dorsal skin visible MPheno.ontology MP:0010202 focal dorsal hair loss MP:0010202 focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs https://orcid.org/0000-0002-8404-2907 https://orcid.org/0000-0003-3691-0324 focal hair loss on the ventral area of a rodent resulting in ventral skin visible in a patch where hair loss occurs csmith 2010-06-11T03:04:09Z ventral skin visible MPheno.ontology MP:0010203 focal ventral hair loss MP:0010203 focal hair loss on the ventral area of a rodent resulting in ventral skin visible in a patch where hair loss occurs https://orcid.org/0000-0002-8404-2907 https://orcid.org/0000-0003-3691-0324 change in the timing or the number of astrocytes undergoing programmed cell death csmith 2010-06-18T11:05:34Z abnormal astroglia apoptosis abnormal astroglial cell apoptosis MPheno.ontology MP:0010204 abnormal astrocyte apoptosis MP:0010204 change in the timing or the number of astrocytes undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 change in the timing or the number of oligodendrocytes undergoing programmed cell death csmith 2010-06-18T11:08:21Z abnormal oligodendroglial cell apoptosis abnormal oligoglia apoptosis abnormal oligoglial cell apoptosis MPheno.ontology abnormal oligodendroglia apoptosis MP:0010205 abnormal oligodendrocyte apoptosis MP:0010205 change in the timing or the number of oligodendrocytes undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 absence of melanin and melanosomes in the epidermis, and accumulation of melanin and melanosome in melanophages in the upper dermis csmith 2010-06-18T03:35:59Z incontinence of pigment MPheno.ontology MP:0010206 pigment incontinence MP:0010206 absence of melanin and melanosomes in the epidermis, and accumulation of melanin and melanosome in melanophages in the upper dermis https://orcid.org/0000-0003-3691-0324 any structural anomaly of the terminal repetitive DNA section of a chromosome which is involved in chromosomal replication and senescence, and which protects the end of the chromosome from deterioration csmith 2010-06-22T01:20:58Z MPheno.ontology MP:0010207 abnormal telomere morphology MP:0010207 any structural anomaly of the terminal repetitive DNA section of a chromosome which is involved in chromosomal replication and senescence, and which protects the end of the chromosome from deterioration https://orcid.org/0000-0003-3691-0324 abnormal protrusion of the mandible relative to the facial skeleton and soft tissues csmith 2010-06-22T03:12:19Z prognathism MPheno.ontology MP:0010208 prognathia MP:0010208 abnormal protrusion of the mandible relative to the facial skeleton and soft tissues https://orcid.org/0000-0003-3691-0324 deviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes in the circulation csmith 2010-07-05T10:00:46Z MPheno.ontology MP:0010209 The site en.wikipedia.org/wiki/Chemokine has a good list of chemokines. abnormal circulating chemokine level MP:0010209 deviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes in the circulation MESH:D12.644.276.374.200 https://orcid.org/0000-0003-3691-0324 deviation from the normal levels in the blood of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells csmith 2010-07-05T10:02:09Z MPheno.ontology MP:0010210 abnormal circulating cytokine level MP:0010210 deviation from the normal levels in the blood of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells ISBN:0-8153-1691-7 https://orcid.org/0000-0003-3691-0324 deviation from the normal levels of the series of proteins found in the blood shortly after infection and which participate in the early phases of host defense against infection csmith 2010-07-05T12:16:59Z MPheno.ontology MP:0010211 abnormal acute phase protein level MP:0010211 deviation from the normal levels of the series of proteins found in the blood shortly after infection and which participate in the early phases of host defense against infection ISBN:0-8153-1691-7 deviation from the normal levels of the plasma protein that circulates in increased amounts during inflammation or after tissue damage and binds to phosphocholine expressed on the surface of dead or dying cells, including all types of pneumococci, in order to activate the complement system via the C1Q complex csmith 2010-07-05T01:11:19Z abnormal circulating CRP level MPheno.ontology MP:0010212 abnormal circulating C-reactive protein level MP:0010212 deviation from the normal levels of the plasma protein that circulates in increased amounts during inflammation or after tissue damage and binds to phosphocholine expressed on the surface of dead or dying cells, including all types of pneumococci, in order to activate the complement system via the C1Q complex ISBN:0-683-40008-8 MESH:D12.776.034.145 https://orcid.org/0000-0003-3691-0324 deviation from the normal levels in the blood of a globulin that is converted into fibrin by the action of thrombin in the presence of ionized calcium to produce coagulation of the blood csmith 2010-07-05T01:21:44Z MPheno.ontology MP:0010213 abnormal circulating fibrinogen level MP:0010213 deviation from the normal levels in the blood of a globulin that is converted into fibrin by the action of thrombin in the presence of ionized calcium to produce coagulation of the blood ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 deviation from the normal blood levels of an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis csmith 2010-07-05T01:22:14Z abnormal SAA protein level abnormal Serum Amyloid A Protein level MPheno.ontology MP:0010214 abnormal circulating serum amyloid protein level MP:0010214 deviation from the normal blood levels of an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis MESH:D12.776.049.790 https://orcid.org/0000-0003-3691-0324 deviation from the normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes csmith 2010-07-06T12:19:11Z MPheno.ontology abnormal circulating complement component level MP:0010215 abnormal circulating complement protein level MP:0010215 deviation from the normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes https://orcid.org/0000-0003-3691-0324 anomaly in the blood level of carrier proteins that bind retinol; serum levels are used to detect liver disease, protein-calorie malnutrition and vitamin A deficiencies csmith 2010-07-06T12:40:37Z abnormal circulating CBP level abnormal circulating retinoid-binding protein level MPheno.ontology MP:0010216 abnormal circulating retinol binding protein level MP:0010216 anomaly in the blood level of carrier proteins that bind retinol; serum levels are used to detect liver disease, protein-calorie malnutrition and vitamin A deficiencies PMID:10839978 any structural anomaly of a CD4-positive, alpha-beta T cell with the phenotype RORgamma-t-positive that produces IL-17 csmith 2010-07-06T04:45:33Z abnormal Th17 T cell morphology abnormal Th17 T lymphocyte morphology abnormal Th17 T-cell morphology abnormal Th17 T-lymphocyte morphology abnormal Th17 cell morphology abnormal helper T cell type 17 morphology MPheno.ontology MP:0010217 abnormal T-helper 17 cell morphology MP:0010217 any structural anomaly of a CD4-positive, alpha-beta T cell with the phenotype RORgamma-t-positive that produces IL-17 CL:0000899 deviation from the normal count of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17 csmith 2010-07-06T04:47:34Z abnormal Th17 T cell number abnormal Th17 T lymphocyte number abnormal Th17 T-cell number abnormal Th17 T-lymphocyte number abnormal Th17 cell number abnormal helper T cell type 17 number MPheno.ontology MP:0010218 abnormal T-helper 17 cell number MP:0010218 deviation from the normal count of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17 CL:0000899 increased number of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17 csmith 2010-07-06T04:47:54Z increased Th17 T cell number increased Th17 T lymphocyte number increased Th17 T-cell number increased Th17 T-lymphocyte number increased Th17 cell number increased helper T cell type 17 number MPheno.ontology MP:0010219 increased T-helper 17 cell number MP:0010219 increased number of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17 CL:0000899 reduced number of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17 csmith 2010-07-06T04:48:15Z decreased Th17 T cell number decreased Th17 T lymphocyte number decreased Th17 T-cell number decreased Th17 T-lymphocyte number decreased Th17 cell number decreased helper T cell type 17 number dreduced Th17 T-lymphocyte number reduced Th17 T cell number reduced Th17 T lymphocyte number reduced Th17 T-cell number reduced Th17 cell number reduced helper T cell type 17 number MPheno.ontology MP:0010220 decreased T-helper 17 cell number MP:0010220 reduced number of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17 CL:0000899 atypical production of or inability to produce the CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17 csmith 2010-07-06T04:48:37Z abnormal Th17 T cell differentiation abnormal Th17 T lymphocyte differentiation abnormal Th17 T-cell differentiation abnormal Th17 T-lymphocyte differentiation abnormal Th17 cell differentiation abnormal helper T cell type 17 differentiation MPheno.ontology MP:0010221 abnormal T-helper 17 cell differentiation MP:0010221 atypical production of or inability to produce the CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17 CL:0000899 any functional anomaly of a CD4-positive, alpha-beta T cell with the phenotype RORgamma-t-positive that produces IL-17 csmith 2010-07-06T04:49:43Z abnormal Th17 T cell physiology abnormal Th17 T lymphocyte physiology abnormal Th17 T-cell physiology abnormal Th17 T-lymphocyte physiology abnormal Th17 cell physiology abnormal helper T cell type 17 physiology MPheno.ontology MP:0010222 abnormal T-helper 17 cell physiology MP:0010222 any functional anomaly of a CD4-positive, alpha-beta T cell with the phenotype RORgamma-t-positive that produces IL-17 CL:0000899 any anomaly in the process of transporting immunoglobulin, via transcytosis, from one side of a cell to the other; occurs in epithelial cells and other cell types csmith 2010-07-07T03:42:50Z MPheno.ontology MP:0010223 abnormal immunoglobulin transcytosis MP:0010223 any anomaly in the process of transporting immunoglobulin, via transcytosis, from one side of a cell to the other; occurs in epithelial cells and other cell types GO:0002414 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the superior portion of the ventricles of the heart through which blood flows into the arteries csmith 2010-07-07T04:27:25Z abnormal outflow part of ventricle morphology abnormal outflow path of ventricle morphology abnormal outflow tract of ventricle morphology MPheno.ontology MP:0010224 abnormal heart ventricle outflow tract morphology MP:0010224 any structural anomaly of the superior portion of the ventricles of the heart through which blood flows into the arteries ISBN:0-683-40008-8 any structural anomaly of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint csmith 2010-07-12T02:23:53Z abnormal quadriceps extensor morphology abnormal quadriceps femoris morphology abnormal quadriceps muscle morphology abnormal quads morphology MPheno.ontology MP:0010225 abnormal quadriceps morphology MP:0010225 any structural anomaly of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint https://orcid.org/0000-0003-3691-0324 increase in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint csmith 2010-07-12T02:36:45Z increased quadriceps extensor weight increased quadriceps femoris weight increased quadriceps muscle weight increased quads weight MPheno.ontology MP:0010226 increased quadriceps weight MP:0010226 increase in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint https://orcid.org/0000-0003-3691-0324 reduction in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint csmith 2010-07-12T02:37:02Z decreased quadriceps extensor weight decreased quadriceps femoris weight decreased quadriceps muscle weight decreased quads weight reduced quadriceps extensor weight reduced quadriceps femoris weight reduced quadriceps muscle weight reduced quadriceps weight reduced quads weight MPheno.ontology MP:0010227 decreased quadriceps weight MP:0010227 reduction in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint https://orcid.org/0000-0003-3691-0324 reduced number of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive csmith 2010-07-13T11:32:36Z CL:0000960 decreased T3 stage B cell number decreased transitional three stage B lymphocyte number decreased transitional three stage B-cell number decreased transitional three stage B-lymphocyte number reduced T3 stage B cell number reduced transitional three stage B lymphocyte number reduced transitional three stage B-cell number reduced transitional three stage B-lymphocyte number MPheno.ontology MP:0010228 decreased transitional stage T3 B cell number MP:0010228 reduced number of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive PMID:12810111 greater number of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive csmith 2010-07-13T11:32:54Z CL:0000960 increased T3 stage B cell number increased transitional three stage B lymphocyte number increased transitional three stage B-cell number increased transitional three stage B-lymphocyte number MPheno.ontology MP:0010229 increased transitional stage T3 B cell number MP:0010229 greater number of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive PMID:12810111 absence of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive csmith 2010-07-13T11:33:30Z CL:0000960 absent T3 stage B cells absent transitional three stage B lymphocytes absent transitional three stage B-lymphocytes dabsent transitional three stage B-cells MPheno.ontology MP:0010230 absent transitional stage T3 B cells MP:0010230 absence of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive PMID:12810111 presence of stripes of pigmented hair, usually black, of variable degree and location in the coat csmith 2010-07-15T03:17:55Z MP:0006360 tabby coat transverse fur markings MPheno.ontology transverse coat striping MP:0010231 transverse fur striping MP:0010231 presence of stripes of pigmented hair, usually black, of variable degree and location in the coat MGI:llw2 lag in the time that normal coloration of the skin color occurs in relation to control animals csmith 2010-07-15T04:01:57Z MPheno.ontology MP:0010232 delayed skin pigmentation appearance MP:0010232 lag in the time that normal coloration of the skin color occurs in relation to control animals MGI:llw2 the tail is devoid of hair csmith 2010-07-15T04:37:12Z absent tail hair glabrous tail MPheno.ontology MP:0010233 hairless tail MP:0010233 the tail is devoid of hair MGI:llw2 any structural anomaly of one of the tubular invaginations of the epidermis enclosing the hair roots and from which grow the vibrissae located on the muzzle and face of many species csmith 2010-07-15T04:39:00Z abnormal contour hair follicle morphology abnormal sinus hair follicle morphology abnormal touch hair follicle morphology MPheno.ontology MP:0010234 abnormal vibrissa follicle morphology MP:0010234 any structural anomaly of one of the tubular invaginations of the epidermis enclosing the hair roots and from which grow the vibrissae located on the muzzle and face of many species MGI:llw2 any structural anomaly of the row of fused Muller cell processes and astrocytes that separates the retinal nerve fiber layer from the vitreous csmith 2010-07-16T10:38:04Z abnormal retina ILM morphology abnormal retina internal limiting lamina morphology abnormal retina internal limiting membrane morphology abnormal retinal ILM morphology abnormal retinal inner limiting membrane morphology abnormal retinal internal limiting lamina morphology abnormal retinal internal limiting membrane morphology MPheno.ontology MP:0010235 abnormal retina inner limiting membrane morphology MP:0010235 any structural anomaly of the row of fused Muller cell processes and astrocytes that separates the retinal nerve fiber layer from the vitreous ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the row of junctional complexes between the plasma membranes of rod segments and the Muller glia cells; this barrier separates the layer of inner and outer segments of the rods and cones from the outer nuclear layer and forms a blood-retina barrier csmith 2010-07-16T10:39:10Z abnormal retina OLM morphology abnormal retina external limiting lamina morphology abnormal retinal OLM morphology abnormal retinal external limiting lamina morphology abnormal retinal external limiting membrane morphology abnormal retinal outer limiting membrane morphology MPheno.ontology abnormal retina external limiting membrane morphology MP:0010236 abnormal retina outer limiting membrane morphology MP:0010236 any structural anomaly of the row of junctional complexes between the plasma membranes of rod segments and the Muller glia cells; this barrier separates the layer of inner and outer segments of the rods and cones from the outer nuclear layer and forms a blood-retina barrier ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any anomaly in the average skeletal muscle weight csmith 2010-07-19T12:49:29Z MPheno.ontology MP:0010237 abnormal skeletal muscle weight MP:0010237 any anomaly in the average skeletal muscle weight https://orcid.org/0000-0003-3691-0324 greater than average skeletal muscle weight csmith 2010-07-19T01:12:06Z MPheno.ontology MP:0010238 increased skeletal muscle weight MP:0010238 greater than average skeletal muscle weight https://orcid.org/0000-0003-3691-0324 less than average skeletal muscle weight csmith 2010-07-19T01:12:26Z MPheno.ontology MP:0010239 decreased skeletal muscle weight MP:0010239 less than average skeletal muscle weight https://orcid.org/0000-0003-3691-0324 less than average dimensions of one or more of the muscles of the skeleton csmith 2010-07-19T01:20:35Z MPheno.ontology MP:0010240 decreased skeletal muscle size MP:0010240 less than average dimensions of one or more of the muscles of the skeleton https://orcid.org/0000-0003-4606-0597 anomaly in the process of forming the convex portion of the aorta between the ascending and descending parts of the aorta; including formation of the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery csmith 2010-07-19T03:04:01Z abnormal arch of aorta development MPheno.ontology abnormal adult aortic arch development MP:0010241 abnormal aortic arch development MP:0010241 anomaly in the process of forming the convex portion of the aorta between the ascending and descending parts of the aorta; including formation of the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery ISBN:0-683-40008-8 an anomaly in the amount of copper present in kidney tissue csmith 2010-07-29T12:21:08Z abnormal renal copper level MPheno.ontology MP:0010242 abnormal kidney copper level MP:0010242 an anomaly in the amount of copper present in kidney tissue MGI:llw2 a greater accumulation of copper in the kidney tissue compared to controls csmith 2010-07-29T12:27:15Z increased renal copper level MPheno.ontology MP:0010243 increased kidney copper level MP:0010243 a greater accumulation of copper in the kidney tissue compared to controls MGI:llw2 a reduced amount of copper in the kidney tissue compared to controls csmith 2010-07-29T12:27:32Z decreased renal copper level reduced kidney copper level reduced renal copper level MPheno.ontology MP:0010244 decreased kidney copper level MP:0010244 a reduced amount of copper in the kidney tissue compared to controls MGI:llw2 any structural anomaly of the compartment located between the marginal zone and the red pulp harboring scattered B and T lymphocytes csmith 2010-07-29T01:22:05Z MPheno.ontology MP:0010245 Note that there is no consensus in the literature about whether the perifollicular zone (which does not exist in rodents) is part of the splenic red or white pulp. Notable differences in the structure of the spleen exist between humans and rodents. In this ontology, the marginal sinus (which doen not exist in human) has been included as part of the white pulp and may be the rodent functional equivalent of the human perifollicular zone. abnormal spleen perifollicular zone morphology MP:0010245 any structural anomaly of the compartment located between the marginal zone and the red pulp harboring scattered B and T lymphocytes PMID:11485909 PMID:9415041 an anomaly in the amount of copper present in the intestine csmith 2010-07-29T02:44:25Z abnormal intestinal copper level MPheno.ontology MP:0010246 abnormal intestine copper level MP:0010246 an anomaly in the amount of copper present in the intestine MGI:llw2 a greater accumulation of copper in intestinal tissue compared with controls csmith 2010-07-29T02:45:01Z elevated intestine copper level increased intestinal copper level MPheno.ontology MP:0010247 increased intestine copper level MP:0010247 a greater accumulation of copper in intestinal tissue compared with controls MGI:llw2 a reduced amount of copper in the intestinal tissue compared to controls csmith 2010-07-29T02:45:26Z decreased intestinal copper level reduced intestinal copper level reduced intestine copper level MPheno.ontology MP:0010248 decreased intestine copper level MP:0010248 a reduced amount of copper in the intestinal tissue compared to controls MGI:llw2 mammary glands do not secrete milk after parturition csmith 2010-07-29T03:30:02Z agalactia agalactorrhea agalactosis MPheno.ontology MP:0010249 lactation failure MP:0010249 mammary glands do not secrete milk after parturition MGI:llw2 lacking the outer part of the thymus lobule which surrounds the medulla and is normally composed of closely packed lymphocytes csmith 2010-07-29T03:39:18Z MPheno.ontology MP:0010250 absent thymus cortex MP:0010250 lacking the outer part of the thymus lobule which surrounds the medulla and is normally composed of closely packed lymphocytes MGI:llw2 a lens opacity localized beneath the anterior or posterior lens capsule csmith 2010-07-30T01:42:20Z subcapsular cataracts subcapsular opacity MPheno.ontology MP:0010251 subcapsular cataract MP:0010251 a lens opacity localized beneath the anterior or posterior lens capsule ISBN:0-683-40008-8 ISBN:978-0-8493-0864-2 a lens opacity localized beneath the anterior lens capsule csmith 2010-07-30T01:42:40Z anterior subcapsular cataracts anterior subcapsular opacity MPheno.ontology MP:0010252 anterior subcapsular cataract MP:0010252 a lens opacity localized beneath the anterior lens capsule ISBN:0-683-40008-8 ISBN:978-0-8493-0864-2 a lens opacity localized beneath the posterior lens capsule csmith 2010-07-30T01:43:01Z posterior subcapsular cataracts posterior subcapsular opacity MPheno.ontology MP:0010253 posterior subcapsular cataract MP:0010253 a lens opacity localized beneath the posterior lens capsule ISBN:0-683-40008-8 ISBN:978-0-8493-0864-2 a lens opacity located in the dense, central part of the lens csmith 2010-07-30T01:43:19Z hard cataracts nuclear cataracts nuclear opacity MPheno.ontology MP:0010254 nuclear cataract MP:0010254 a lens opacity located in the dense, central part of the lens ISBN:0-683-40008-8 ISBN:978-0-8493-0864-2 a lens opacity, frequently punctate, affecting the lens cortex in which spokes or wedges progressively extend from the outside of the lens towards the center csmith 2010-07-30T01:43:33Z cortical cataracts cortical opacity peripheral cataracts MPheno.ontology MP:0010255 cortical cataract MP:0010255 a lens opacity, frequently punctate, affecting the lens cortex in which spokes or wedges progressively extend from the outside of the lens towards the center ISBN:0-683-40008-8 ISBN:978-0-8493-0864-2 a lens opacity, frequently punctate, affecting the anterior pole of the lens cortex in which spokes or wedges progressively extend from the outside of the lens towards the center csmith 2010-07-30T01:43:44Z anterior cortical cataracts anterior cortical opacity anterior peripheral cataracts MPheno.ontology MP:0010256 anterior cortical cataract MP:0010256 a lens opacity, frequently punctate, affecting the anterior pole of the lens cortex in which spokes or wedges progressively extend from the outside of the lens towards the center ISBN:0-683-40008-8 ISBN:978-0-8493-0864-2 a lens opacity, frequently punctate, affecting the posterior pole of the lens cortex in which spokes or wedges progressively extend from the outside of the lens towards the center csmith 2010-07-30T01:44:09Z posterior cortical cataracts posterior cortical opacity posterior peripheral cataracts MPheno.ontology MP:0010257 posterior cortical cataract MP:0010257 a lens opacity, frequently punctate, affecting the posterior pole of the lens cortex in which spokes or wedges progressively extend from the outside of the lens towards the center ISBN:0-683-40008-8 ISBN:978-0-8493-0864-2 a lens opacity, usually disk-shaped, that is limited to an area in the anterior or posterior pole of the lens capsular region csmith 2010-07-30T01:44:36Z polar cataracts polar opacity MPheno.ontology MP:0010258 polar cataract MP:0010258 a lens opacity, usually disk-shaped, that is limited to an area in the anterior or posterior pole of the lens capsular region ISBN:0-683-40008-8 ISBN:978-0-8493-0864-2 a lens opacity, usually disk-shaped, that is limited to an area in the anterior pole of the lens capsular region csmith 2010-07-30T01:44:47Z anterior polar cataracts anterior polar opacity MPheno.ontology MP:0010259 anterior polar cataract MP:0010259 a lens opacity, usually disk-shaped, that is limited to an area in the anterior pole of the lens capsular region ISBN:0-683-40008-8 ISBN:978-0-8493-0864-2 a lens opacity, usually disk-shaped, that is limited to an area in the posterior pole of the lens capsular region csmith 2010-07-30T01:45:00Z posterior polar cataracts posterior polar opacity MPheno.ontology MP:0010260 posterior polar cataract MP:0010260 a lens opacity, usually disk-shaped, that is limited to an area in the posterior pole of the lens capsular region ISBN:0-683-40008-8 ISBN:978-0-8493-0864-2 a lens opacity which follows the shape of anterior or posterior Y suture of the fetal lens and is not progressive; often more severe in males and is congenital, but usually does not affect vision csmith 2010-07-30T01:45:29Z sutural cataracts sutural opacity suture cataracts MPheno.ontology MP:0010261 sutural cataract MP:0010261 a lens opacity which follows the shape of anterior or posterior Y suture of the fetal lens and is not progressive; often more severe in males and is congenital, but usually does not affect vision ISBN:0-683-40008-8 ISBN:978-0-8493-0864-2 a concentric lens opacity which is limited to layers of the cortex, affecting one lamella or zonule of an otherwise clear lens; usually congenital csmith 2010-07-30T01:45:59Z lamellar cataracts lamellar opacity zonular cataracts MPheno.ontology MP:0010262 lamellar cataract MP:0010262 a concentric lens opacity which is limited to layers of the cortex, affecting one lamella or zonule of an otherwise clear lens; usually congenital ISBN:0-683-40008-8 ISBN:978-0-8493-0864-2 a lens opacity which involves both nuclear and cortical regions, including all fibers of a lens; usually congenital csmith 2010-07-30T01:46:30Z complete cataracts total cataracts total lens opacity MPheno.ontology MP:0010263 total cataract MP:0010263 a lens opacity which involves both nuclear and cortical regions, including all fibers of a lens; usually congenital ISBN:0-683-40008-8 ISBN:978-0-8493-0864-2 greater than the expected number of malignant tumors composed of neoplastic liver cells in a specific population in a given time period csmith 2010-08-03T10:36:22Z MP:0002028 MP:0002889 decreased resistance to hepatoma increased malignant liver tumor incidence increased susceptibility to hepatoma MPheno.ontology MP:0010264 increased hepatoma incidence MP:0010264 greater than the expected number of malignant tumors composed of neoplastic liver cells in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of malignant tumors composed of neoplastic liver cells in a specific population in a given time period csmith 2010-08-03T10:44:04Z MP:0002890 decreased susceptibility to hepatoma hepatoma resistance increased resistance to hepatoma MPheno.ontology MP:0010265 decreased hepatoma incidence MP:0010265 less than the expected number of malignant tumors composed of neoplastic liver cells in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of neoplams in the liver, usually in the form of a distinct mass, in a specific population in a given time period csmith 2010-08-03T10:47:13Z MP:0005513 decreased liver tumour incidence decreased susceptibility to liver neoplasm decreased susceptibility to liver tumor decreased susceptibility to liver tumour increased resistance to liver neoplasm increased resistance to liver tumor increased resistance to liver tumour MPheno.ontology MP:0010266 decreased liver tumor incidence MP:0010266 less than the expected number of neoplams in the liver, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of neoplams in the lung, usually in the form of a distinct mass, in a specific population in a given time period csmith 2010-08-03T12:16:39Z MP:0003640 decreased lung tumour incidence decreased susceptibility to lung neoplasm increased resistance to lung neoplasm MPheno.ontology MP:0010267 decreased lung tumor incidence MP:0010267 less than the expected number of neoplams in the lung, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period csmith 2010-08-03T12:24:28Z MP:0003000 decreased lymphosarcoma incidence decreased susceptibility to lymphoma increased resistance to lymphoma MPheno.ontology MP:0010268 decreased lymphoma incidence MP:0010268 less than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0003-3691-0324 less than the expected number of neoplasms in the mammary gland, usually in the form of a distinct mass, in a specific population in a given time period csmith 2010-08-03T12:33:31Z MP:0005512 decreased mammary gland tumour incidence decreased susceptibility to mammary neoplasm decreased susceptibility to mammary tumor decreased susceptibility to mammary tumour increased resistance to mammary neoplasm increased resistance to mammary tumor increased resistance to mammary tumour MPheno.ontology MP:0010269 decreased mammary gland tumor incidence MP:0010269 less than the expected number of neoplasms in the mammary gland, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of neoplasms in the gastric tissue usually in the form of a distinct mass, in a specific population in a given time period csmith 2010-08-03T12:37:15Z MP:0003170 decreased stomach tumour incidence decreased susceptibility to gastric tumor decreased susceptibility to gastric tumour decreased susceptibility to stomach tumor decreased susceptibility to stomach tumour increased resistance to gastric tumor increased resistance to gastric tumour increased resistance to stomach tumor increased resistance to stomach tumour MPheno.ontology MP:0010270 decreased stomach tumor incidence MP:0010270 less than the expected number of neoplasms in the gastric tissue usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of neoplasms in the tongue tissue, usually in the form of a distinct mass, in a specific population in a given time period csmith 2010-08-03T12:38:38Z MP:0005511 decreased susceptibility to tongue neoplasm decreased susceptibility to tongue tumor decreased susceptibility to tongue tumour decreased tongue tumour incidence increased resistance to tongue neoplasm increased resistance to tongue tumor increased resistance to tongue tumour MPheno.ontology MP:0010271 decreased tongue tumor incidence MP:0010271 less than the expected number of neoplasms in the tongue tissue, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplasms in the tongue tissue, usually in the form of a distinct mass, in a specific population in a given time period csmith 2010-08-03T12:39:51Z MP:0005509 increased tongue tumour incidence MPheno.ontology tongue neoplasm MP:0010272 increased tongue tumor incidence MP:0010272 greater than the expected number of neoplasms in the tongue tissue, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors with a specific classification type in a given population in a given time period csmith 2010-08-03T02:32:43Z increased classified tumour incidence increased tumor type incidence increased tumour type incidence MPheno.ontology MP:0010273 increased classified tumor incidence MP:0010273 greater than the expected number of tumors with a specific classification type in a given population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors originating in a specific body region or organ in a given population in a given time period csmith 2010-08-03T02:33:47Z increased organ/body region tumour incidence MPheno.ontology MP:0010274 increased organ/body region tumor incidence MP:0010274 greater than the expected number of tumors originating in a specific body region or organ in a given population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of malignant neoplasms, derived from melanocytes and occurring in pigmented tissues, in a specific population in a given time period csmith 2010-08-03T02:43:31Z MPheno.ontology MP:0010275 increased melanoma incidence MP:0010275 greater than the expected number of malignant neoplasms, derived from melanocytes and occurring in pigmented tissues, in a specific population in a given time period ISBN:0-683-40008-8 greater than the expected number of a dark-pigmented, usually malignant tumor arising from a melanocyte in the uvea of the eye, occurring in a specific population in a given time period csmith 2010-08-03T02:46:07Z MP:0006247 increased uveal melanoma incidence MPheno.ontology increased uvea melanoma incidence MP:0010276 increased intraocular melanoma incidence MP:0010276 greater than the expected number of a dark-pigmented, usually malignant tumor arising from a melanocyte in the uvea of the eye, occurring in a specific population in a given time period ISBN:0-683-40008-8 greater than the expected number of tumors that arise from astrocytes, large neuroglia cells of nervous tissue, occurring in a specific population in a given time period csmith 2010-08-03T03:06:34Z MPheno.ontology MP:0010277 increased astrocytoma incidence MP:0010277 greater than the expected number of tumors that arise from astrocytes, large neuroglia cells of nervous tissue, occurring in a specific population in a given time period ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors that arise from glial cells, non-neuronal cells of the nervous tissue, occurring in a specific population in a given time period csmith 2010-08-03T03:08:00Z MPheno.ontology MP:0010278 increased glioma incidence MP:0010278 greater than the expected number of tumors that arise from glial cells, non-neuronal cells of the nervous tissue, occurring in a specific population in a given time period ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors originating in the gastrointestinal system in a given population in a given time period csmith 2010-08-03T03:18:01Z increased gastrointestinal tract neoplasia incidence increased gastrointestinal tumour incidence MPheno.ontology MP:0010279 increased gastrointestinal tumor incidence MP:0010279 greater than the expected number of tumors originating in the gastrointestinal system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplasms in the skeletal tissue, usually in the form of a distinct mass, in a specific population in a given time period csmith 2010-08-03T03:28:52Z increased skeletal tumour incidence MPheno.ontology MP:0010280 increased skeletal tumor incidence MP:0010280 greater than the expected number of neoplasms in the skeletal tissue, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors originating in the nervous system in a given population in a given time period csmith 2010-08-03T03:37:02Z increased nervous system tumour incidence MPheno.ontology MP:0010281 increased nervous system tumor incidence MP:0010281 greater than the expected number of tumors originating in the nervous system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of tumors originating in a specific body region or organ in a given population in a given time period csmith 2010-08-03T03:40:31Z decreased organ/body region tumour incidence reduced organ/body region tumor incidence reduced organ/body region tumour incidence MPheno.ontology MP:0010282 decreased organ/body region tumor incidence MP:0010282 less than the expected number of tumors originating in a specific body region or organ in a given population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of tumors with a specific classification type in a given population in a given time period csmith 2010-08-03T03:42:26Z decreased classified tumour incidence MPheno.ontology MP:0010283 decreased classified tumor incidence MP:0010283 less than the expected number of tumors with a specific classification type in a given population in a given time period https://orcid.org/0000-0003-3691-0324 less han the expected number of neoplastic plasma cells in bone or in one of the extramedullary sites occurring in a specific population in a given time period csmith 2010-08-03T03:47:13Z decreased plasma cell lymphoma incidence increased resistance to plasmacytoma reduced plasmacytoma incidence MPheno.ontology plasmacytoma resistance MP:0010284 decreased plasmacytoma incidence MP:0010284 less han the expected number of neoplastic plasma cells in bone or in one of the extramedullary sites occurring in a specific population in a given time period ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 less than the expected number of neoplasms in the skin tissue usually in the form of a distinct mass, in a specific population in a given time period csmith 2010-08-03T03:50:04Z decreased skin tumour incidence MPheno.ontology MP:0010285 decreased skin tumor incidence MP:0010285 less than the expected number of neoplasms in the skin tissue usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplastic plasma cells in bone or in one of the extramedullary sites occurring in a specific population in a given time period csmith 2010-08-03T04:09:30Z MP:0005233 increased plasma cell lymphoma incidence increased plasmacytoma susceptibility MPheno.ontology MP:0010286 increased plasmacytoma incidence MP:0010286 greater than the expected number of neoplastic plasma cells in bone or in one of the extramedullary sites occurring in a specific population in a given time period ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors originating in the reproductive system in a given population in a given time period csmith 2010-08-03T04:37:41Z increased reproductive system tumour incidence MPheno.ontology MP:0010287 increased reproductive system tumor incidence MP:0010287 greater than the expected number of tumors originating in the reproductive system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors originating in a gland in a given population in a given time period csmith 2010-08-04T09:38:21Z increased gland tumour incidence MPheno.ontology MP:0010288 increased gland tumor incidence MP:0010288 greater than the expected number of tumors originating in a gland in a given population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors originating in the urinary system in a given population in a given time period csmith 2010-08-04T09:41:22Z increased urinary system tumour incidence MPheno.ontology MP:0010289 increased urinary system tumor incidence MP:0010289 greater than the expected number of tumors originating in the urinary system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors originating in muscle tissue in a given population in a given time period csmith 2010-08-04T09:50:15Z increased muscle tumour incidence MPheno.ontology MP:0010290 increased muscle tumor incidence MP:0010290 greater than the expected number of tumors originating in muscle tissue in a given population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors originating in the cardiovascular system in a given population in a given time period csmith 2010-08-04T09:55:03Z increased cardiovascular system tumour incidence MPheno.ontology MP:0010291 increased cardiovascular system tumor incidence MP:0010291 greater than the expected number of tumors originating in the cardiovascular system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors originating in the alimentary system in a given population in a given time period csmith 2010-08-04T09:56:49Z increased alimentary system tumour incidence MPheno.ontology MP:0010292 increased alimentary system tumor incidence MP:0010292 greater than the expected number of tumors originating in the alimentary system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors originating in the integument system in a given population in a given time period csmith 2010-08-04T11:22:45Z increased integument system tumour incidence increased integument tumor incidence increased integument tumour incidence increased integumentary system tumor incidence increased integumentary system tumour incidence MPheno.ontology MP:0010293 increased integument system tumor incidence MP:0010293 greater than the expected number of tumors originating in the integument system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors originating in the kidney in a given population in a given time period csmith 2010-08-04T11:26:45Z increased kidney tumour incidence increased renal tumor incidence increased renal tumour incidence MPheno.ontology MP:0010294 increased kidney tumor incidence MP:0010294 greater than the expected number of tumors originating in the kidney in a given population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors originating in the eye in a given population in a given time period csmith 2010-08-04T01:49:09Z MP:0006178 increased eye tumour incidence MPheno.ontology MP:0010295 increased eye tumor incidence MP:0010295 greater than the expected number of tumors originating in the eye in a given population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors originating in the hemolymphoid system in a given population in a given time period csmith 2010-08-04T01:52:10Z increased haemolymphoid system tumour incidence increased haemolymphoid tumour incidence increased hemolymphoid tumor incidence MPheno.ontology MP:0010296 increased hemolymphoid system tumor incidence MP:0010296 greater than the expected number of tumors originating in the hemolymphoid system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors originating in the hepatobiliary system in a given population in a given time period csmith 2010-08-04T01:54:12Z increased hepatobiliary system tumour incidence MPheno.ontology MP:0010297 increased hepatobiliary system tumor incidence MP:0010297 greater than the expected number of tumors originating in the hepatobiliary system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors originating in the respiratory system in a given population in a given time period csmith 2010-08-04T02:00:11Z increased respiratory system tumour incidence MPheno.ontology MP:0010298 increased respiratory system tumor incidence MP:0010298 greater than the expected number of tumors originating in the respiratory system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplasms in the mammary gland, usually in the form of a distinct mass, in a specific population in a given time period csmith 2010-08-04T02:12:02Z MP:0006318 increased mammary gland tumour incidence increased susceptibility to mammary neoplasm MPheno.ontology MP:0010299 increased mammary gland tumor incidence MP:0010299 greater than the expected number of neoplasms in the mammary gland, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplasms in the skin tissue usually in the form of a distinct mass, in a specific population in a given time period csmith 2010-08-04T02:14:15Z MP:0005276 increased skin tumour incidence MPheno.ontology MP:0010300 increased skin tumor incidence MP:0010300 greater than the expected number of neoplasms in the skin tissue usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplasms in the gastric tissue usually in the form of a distinct mass, in a specific population in a given time period csmith 2010-08-04T02:16:45Z MP:0006079 increased gastric tumor incidence increased gastric tumour incidence increased stomach tumour incidence increased susceptibility to gastric tumor increased susceptibility to gastric tumour MPheno.ontology MP:0010301 increased stomach tumor incidence MP:0010301 greater than the expected number of neoplasms in the gastric tissue usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplasms in the uvea, usually in the form of a distinct mass, in a specific population in a given time period csmith 2010-08-04T02:21:01Z MP:0006246 increased uvea tumour incidence increased uveal tumor incidence increased uveal tumour incidence tumor of uvea tumour of uvea MPheno.ontology MP:0010302 increased uvea tumor incidence MP:0010302 greater than the expected number of neoplasms in the uvea, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplasms in the retina, usually in the form of a distinct mass, in a specific population in a given time period csmith 2010-08-04T02:22:59Z MP:0006181 increased retina tumour incidence increased retinal tumor incidence increased retinal tumour incidence MPheno.ontology MP:0010303 increased retina tumor incidence MP:0010303 greater than the expected number of neoplasms in the retina, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplasms in the choroid of the eye, usually in the form of a distinct mass, in a specific population in a given time period csmith 2010-08-04T02:48:07Z MP:0006179 increased choroid tumour incidence MPheno.ontology MP:0010304 increased choroid tumor incidence MP:0010304 greater than the expected number of neoplasms in the choroid of the eye, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplasms in the iris of the eye, usually in the form of a distinct mass, in a specific population in a given time period csmith 2010-08-04T02:48:26Z MP:0006231 increased iris tumour incidence MPheno.ontology MP:0010305 increased iris tumor incidence MP:0010305 greater than the expected number of neoplasms in the iris of the eye, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of benign focal malformations in a specific population in a given time period; results from faulty development of an organ, and is composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element normally present at that site csmith 2010-08-04T03:07:48Z MP:0006381 MPheno.ontology MP:0010306 increased hamartoma incidence MP:0010306 greater than the expected number of benign focal malformations in a specific population in a given time period; results from faulty development of an organ, and is composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element normally present at that site ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 anomaly in the expected time of onset of tumor occurrence csmith 2010-08-04T03:22:09Z abnormal tumour latency MPheno.ontology MP:0010307 abnormal tumor latency MP:0010307 anomaly in the expected time of onset of tumor occurrence https://orcid.org/0000-0003-3691-0324 earlier onset of tumor occurrence than expected csmith 2010-08-04T03:31:51Z accelerated tumor appearance accelerated tumour appearance decreased tumour latency MPheno.ontology MP:0010308 decreased tumor latency MP:0010308 earlier onset of tumor occurrence than expected https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplasms derived from the lining cells of the pleura and peritoneum, in a specific population in a given time period; is composed of spindle cells or fibrous tissue which may enclose glandlike spaces lined by cuboidal cells csmith 2010-08-04T03:43:38Z MPheno.ontology MP:0010309 increased mesothelioma incidence MP:0010309 greater than the expected number of neoplasms derived from the lining cells of the pleura and peritoneum, in a specific population in a given time period; is composed of spindle cells or fibrous tissue which may enclose glandlike spaces lined by cuboidal cells ISBN:0-683-40008-8 greater than the expected number of benign, encapsulated nerve sheath tumors composed of Schwann cells, in a specific population in a given time period; usually associated with a peripheral or cranial nerve csmith 2010-08-04T03:48:28Z increased Schwann cell tumor incidence increased Schwann cell tumour incidence increased neurilemoma incidence increased neuroschwannoma incidence MPheno.ontology MP:0010310 increased Schwannoma incidence MP:0010310 greater than the expected number of benign, encapsulated nerve sheath tumors composed of Schwann cells, in a specific population in a given time period; usually associated with a peripheral or cranial nerve ISBN:0-683-40008-8 greater than the expected number of encapsulated neoplasms derived from the meninges, in a specific population in a given time period csmith 2010-08-04T03:55:34Z MPheno.ontology MP:0010311 Meningiomas may be malignant or benign. increased meningioma incidence MP:0010311 greater than the expected number of encapsulated neoplasms derived from the meninges, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of encapsulated neoplasms derived from oligodendrocytes, in a specific population in a given time period csmith 2010-08-04T03:59:02Z MPheno.ontology MP:0010312 increased oligodendroglioma incidence MP:0010312 greater than the expected number of encapsulated neoplasms derived from oligodendrocytes, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of benign neoplasms derived from lamellar bone, in a specific population in a given time period csmith 2010-08-04T04:06:58Z MPheno.ontology MP:0010313 increased osteoma incidence MP:0010313 greater than the expected number of benign neoplasms derived from lamellar bone, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of benign, encapsulated nerve sheath tumors composed of Schwann cells, in a specific population in a given time period; proliferation is disordered and includes portions of nerve fibers csmith 2010-08-04T04:09:33Z increased fibroneuroma incidence MPheno.ontology MP:0010314 increased neurofibroma incidence MP:0010314 greater than the expected number of benign, encapsulated nerve sheath tumors composed of Schwann cells, in a specific population in a given time period; proliferation is disordered and includes portions of nerve fibers ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 greater than the expected number of malignant adenocarcinomas arising in the intrahepatic bile duct epithelium, in a specific population in a given time period csmith 2010-08-04T04:15:41Z MPheno.ontology MP:0010315 increased cholangiocarcinoma incidence MP:0010315 greater than the expected number of malignant adenocarcinomas arising in the intrahepatic bile duct epithelium, in a specific population in a given time period ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplams in the thyroid occurring in a specific population in a given time period csmith 2010-08-04T04:45:38Z increased thyroid tumour incidence MPheno.ontology MP:0010316 increased thyroid tumor incidence MP:0010316 greater than the expected number of neoplams in the thyroid occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplams in the parotid gland occurring in a specific population in a given time period csmith 2010-08-04T04:48:31Z increased parotid gland tumour incidence MPheno.ontology MP:0010317 increased parotid gland tumor incidence MP:0010317 greater than the expected number of neoplams in the parotid gland occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplams in the salivary gland occurring in a specific population in a given time period csmith 2010-08-04T04:49:44Z increased salivary gland tumour incidence MPheno.ontology MP:0010318 increased salivary gland tumor incidence MP:0010318 greater than the expected number of neoplams in the salivary gland occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplams in the submandibular gland occurring in a specific population in a given time period csmith 2010-08-04T04:50:30Z increased submandibular gland tumour incidence increased submaxillary gland tumor incidence increased submaxillary gland tumour incidence MPheno.ontology MP:0010319 increased submandibular gland tumor incidence MP:0010319 greater than the expected number of neoplams in the submandibular gland occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplams in the pituitary gland occurring in a specific population in a given time period csmith 2010-08-09T11:09:33Z increased pituitary gland tumour incidence MPheno.ontology MP:0010320 increased pituitary gland tumor incidence MP:0010320 greater than the expected number of neoplams in the pituitary gland occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplams in the parathyroid gland occurring in a specific population in a given time period csmith 2010-08-09T11:53:58Z increased parathyroid gland tumour incidence MPheno.ontology MP:0010321 increased parathyroid gland tumor incidence MP:0010321 greater than the expected number of neoplams in the parathyroid gland occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of a dark-pigmented, usually malignant tumor arising from a melanocyte in the skin, occurring in a specific population in a given time period csmith 2010-08-09T12:11:40Z increased skin melanoma incidence MPheno.ontology MP:0010322 increased cutaneous melanoma incidence MP:0010322 greater than the expected number of a dark-pigmented, usually malignant tumor arising from a melanocyte in the skin, occurring in a specific population in a given time period ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 a tendency to step or walk backwards csmith 2010-08-09T03:38:51Z MP:0005420 backward walking walking backwards MPheno.ontology MP:0010323 retropulsion MP:0010323 a tendency to step or walk backwards https://orcid.org/0000-0003-3691-0324 any structural anomaly of the projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane where the tympanic cavity makes a deep pocket (epitympanic pocket) surrounding the cartilaginous nodule csmith 2010-08-13T12:17:58Z abnormal malleal processus brevis morphology MPheno.ontology MP:0010324 abnormal malleus processus brevis morphology MP:0010324 any structural anomaly of the projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane where the tympanic cavity makes a deep pocket (epitympanic pocket) surrounding the cartilaginous nodule PMID:12701100 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the rounded portion of the malleus articulating with the body of the incus csmith 2010-08-13T12:21:18Z abnormal caput mallei morphology abnormal head of malleus morphology MPheno.ontology MP:0010325 abnormal malleus head morphology MP:0010325 any structural anomaly of the rounded portion of the malleus articulating with the body of the incus https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the malleus, typically resulting in decreased size csmith 2010-08-13T01:10:43Z hypoplastic malleus malleal hypoplasia MPheno.ontology MP:0010326 malleus hypoplasia MP:0010326 decrease in the number of normal cells in normal arrangement in the malleus, typically resulting in decreased size ISBN:0-683-40008-8 any structural anomaly of the narrow contracted section of the malleus located between the head and the manubrium csmith 2010-08-13T01:12:28Z abnormal collum mallei morphology abnormal malleal neck morphology abnormal neck of malleus morphology MPheno.ontology MP:0010327 abnormal malleus neck morphology MP:0010327 any structural anomaly of the narrow contracted section of the malleus located between the head and the manubrium https://orcid.org/0000-0003-3691-0324 smaller diameter of the narrow contracted section of the malleus located between the head and the manubrium csmith 2010-08-13T01:19:19Z thin collum mallei thin malleal neck thin neck of malleus MPheno.ontology MP:0010328 thin malleus neck MP:0010328 smaller diameter of the narrow contracted section of the malleus located between the head and the manubrium https://orcid.org/0000-0003-3691-0324 any anomaly in the concentrations of any complex or compound containing both lipid and protein, are important components of biological membranes and myelin, and participate in lipid transport csmith 2010-08-13T01:40:14Z MPheno.ontology MP:0010329 abnormal lipoprotein level MP:0010329 any anomaly in the concentrations of any complex or compound containing both lipid and protein, are important components of biological membranes and myelin, and participate in lipid transport ISBN:0-683-40008-8 any anomaly in the concentration in the blood of any complex or compound containing both lipid and protein, are important components of biological membranes and myelin, and participate in lipid transport csmith 2010-08-13T01:40:33Z MPheno.ontology MP:0010330 abnormal circulating lipoprotein level MP:0010330 any anomaly in the concentration in the blood of any complex or compound containing both lipid and protein, are important components of biological membranes and myelin, and participate in lipid transport ISBN:0-683-40008-8 anomaly in the amount of the a protein that is frequently a component of a lipoprotein complex csmith 2010-08-13T01:41:00Z MPheno.ontology MP:0010331 abnormal apolipoprotein level MP:0010331 anomaly in the amount of the a protein that is frequently a component of a lipoprotein complex ISBN:0-683-40008-8 anomaly in the amount in the blood of a protein that is frequently a component of a lipoprotein complex csmith 2010-08-13T01:41:17Z MPheno.ontology MP:0010332 abnormal circulating apolipoprotein level MP:0010332 anomaly in the amount in the blood of a protein that is frequently a component of a lipoprotein complex ISBN:0-683-40008-8 anomaly in the amount in the blood of a protein that is frequently a component of a VLDL, HDL, and chylomicron complexes, and functions in cholesterol transport csmith 2010-08-13T02:39:42Z abnormal circulating ApoE level abnormal serum ApoE level MPheno.ontology MP:0010333 abnormal circulating apolipoprotein E level MP:0010333 anomaly in the amount in the blood of a protein that is frequently a component of a VLDL, HDL, and chylomicron complexes, and functions in cholesterol transport ISBN:0-683-40008-8 accumulation of excess fluid in the pleural cavity csmith 2010-08-13T03:49:42Z hydrothorax MPheno.ontology MP:0010334 pleural effusion MP:0010334 accumulation of excess fluid in the pleural cavity https://orcid.org/0000-0003-3691-0324 the first arch fails to fully divide along the midline csmith 2010-08-13T03:56:00Z first branchial arch fusion fused first branchial arch MPheno.ontology MP:0010335 fused first pharyngeal arch MP:0010335 the first arch fails to fully divide along the midline https://orcid.org/0000-0003-4606-0597 leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood csmith 2010-08-13T04:20:14Z increased ALL incidence increased acute lymphoblastic leukaemia incidence MPheno.ontology MP:0010336 increased acute lymphoblastic leukemia incidence MP:0010336 leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood NCIT:C3167 an indolent (slow-growing) cancer in which too many immature lymphocytes (white blood cells) are found mostly in the blood and bone marrow.; in later stages of the disease, cancer cells are sometimes found in the lymph nodes csmith 2010-08-13T04:22:38Z increased CLL incidence increased chronic lymphatic leukaemia incidence increased chronic lymphatic leukemia incidence increased chronic lymphocytic leukaemia incidence MPheno.ontology MP:0010337 increased chronic lymphocytic leukemia incidence MP:0010337 an indolent (slow-growing) cancer in which too many immature lymphocytes (white blood cells) are found mostly in the blood and bone marrow.; in later stages of the disease, cancer cells are sometimes found in the lymph nodes NCIT:C3163 greater than the expected number of a monoclonal, fibroblastic proliferation arising in musculoaponeurotic structures in a specific population in a given time period; this connective tissue hyperplasia infiltrates locally, recurs frequently after resection but does not metastasize; this tumor may occur at the site of any fascia, but in particular in muscle csmith 2010-08-16T01:30:51Z MPheno.ontology aggressive fibromatosis musculo-aponeurotic fibromatosis MP:0010338 increased desmoid tumor incidence MP:0010338 greater than the expected number of a monoclonal, fibroblastic proliferation arising in musculoaponeurotic structures in a specific population in a given time period; this connective tissue hyperplasia infiltrates locally, recurs frequently after resection but does not metastasize; this tumor may occur at the site of any fascia, but in particular in muscle PMID:18023087 greater than the expected number of a benign tumor of fibrous or fully developed connective tissue in the cardiac tissue, in a specific population in a given time period csmith 2010-08-16T01:44:36Z MPheno.ontology MP:0010339 increased cardiac fibroma incidence MP:0010339 greater than the expected number of a benign tumor of fibrous or fully developed connective tissue in the cardiac tissue, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of a benign tumor of fibrous or fully developed connective tissue in the lung, in a specific population in a given time period csmith 2010-08-16T01:44:58Z MPheno.ontology MP:0010340 increased lung fibroma incidence MP:0010340 greater than the expected number of a benign tumor of fibrous or fully developed connective tissue in the lung, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of a benign tumor of fibrous or fully developed connective tissue in the mammary gland, in a specific population in a given time period csmith 2010-08-16T01:45:21Z MPheno.ontology MP:0010341 increased mammary gland fibroma incidence MP:0010341 greater than the expected number of a benign tumor of fibrous or fully developed connective tissue in the mammary gland, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of a benign tumor of fibrous or fully developed connective tissue on the face, in a specific population in a given time period; appear as red or yellow papules containing dilated vascular channels csmith 2010-08-16T01:45:42Z increased adenoma sebaceum incidence MPheno.ontology MP:0010342 increased facial angiofibroma incidence MP:0010342 greater than the expected number of a benign tumor of fibrous or fully developed connective tissue on the face, in a specific population in a given time period; appear as red or yellow papules containing dilated vascular channels ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 greater than the expected number of a benign neoplasia derived from lipoblasts or lipocytes of white or brown fat, occurring in a specific population in a given time period csmith 2010-08-16T03:15:31Z MPheno.ontology MP:0010343 increased lipoma incidence MP:0010343 greater than the expected number of a benign neoplasia derived from lipoblasts or lipocytes of white or brown fat, occurring in a specific population in a given time period MPATH:417 greater than the expected number of a benign neoplasm derived from brown fat occurring in a specific population in a given time period csmith 2010-08-16T03:21:08Z increased brown adipose tissue tumor incidence MPheno.ontology MP:0010344 increased hibernoma incidence MP:0010344 greater than the expected number of a benign neoplasm derived from brown fat occurring in a specific population in a given time period ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 greater than the expected number of a malignant neoplasm derived from the calcitonin producing C-cells of the thyroid gland, occurring in a specific population in a given time period csmith 2010-08-16T03:27:47Z increased C cell thyroid carcinoma incidence increased C-cell thyroid carcinoma incidence increased thyroid C cell carcinoma incidence increased thyroid parafollicular carcinoma incidence increased thyroid parafollicular cell carcinoma incidence MPheno.ontology increased thyroid medullary carcinoma incidence MP:0010345 increased thyroid C-cell carcinoma incidence MP:0010345 greater than the expected number of a malignant neoplasm derived from the calcitonin producing C-cells of the thyroid gland, occurring in a specific population in a given time period MPATH:308 greater than the expected number of a malignant epithelial neoplasms of the thyroid gland, occurring in a specific population in a given time period csmith 2010-08-16T03:39:28Z MPheno.ontology MP:0010346 increased thyroid carcinoma incidence MP:0010346 greater than the expected number of a malignant epithelial neoplasms of the thyroid gland, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 the formation of mature bone elements in the stroma of a neoplasm csmith 2010-08-16T03:44:14Z MPheno.ontology MP:0010347 osseous metaplasia MP:0010347 the formation of mature bone elements in the stroma of a neoplasm https://orcid.org/0000-0003-3691-0324 greater than the expected number of malignant neoplasms arising in the pancreatic islet cells, occurring in a specific population in a given time period csmith 2010-08-16T03:52:50Z MPheno.ontology MP:0010348 increased pancreatic islet cell carcinoma incidence MP:0010348 greater than the expected number of malignant neoplasms arising in the pancreatic islet cells, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of a mixed germ cell neoplasm contaning elements of embryonal carcinoma and teratoma, occurring in a specific population in a given time period csmith 2010-08-16T04:17:08Z MPheno.ontology MP:0010349 increased teratocarcinoma incidence MP:0010349 greater than the expected number of a mixed germ cell neoplasm contaning elements of embryonal carcinoma and teratoma, occurring in a specific population in a given time period MPATH:321 greater than the expected number of neoplasms in the anterior part of the pituitary that secretes a variety of hormones, occurring in a specific population in a given time period csmith 2010-08-16T04:30:36Z increased pituitary adenohypophysis tumour incidence increased pituitary anterior lobe tumor incidence increased pituitary anterior lobe tumour incidence MPheno.ontology MP:0010350 increased pituitary adenohypophysis tumor incidence MP:0010350 greater than the expected number of neoplasms in the anterior part of the pituitary that secretes a variety of hormones, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplasms derived from the cells of intermediate pituitary that produce melanocyte stimulating hormone and other peptides from the post-translational processing of pro-opiomelanocortin (POMC) csmith 2010-08-16T04:31:02Z increased pituitary melanotroph tumour incidence MPheno.ontology increased pituitary intermediate lobe tumor incidence increased pituitary intermediate lobe tumour incidence MP:0010351 increased pituitary melanotroph tumor incidence MP:0010351 greater than the expected number of neoplasms derived from the cells of intermediate pituitary that produce melanocyte stimulating hormone and other peptides from the post-translational processing of pro-opiomelanocortin (POMC) CL:0000440 https://orcid.org/0000-0003-3691-0324 abnormal tissue masses that protrude into the lumen of the gastrointestinal tract and are tethered to the wall of the gastrointestinal tract csmith 2010-08-16T04:42:57Z MPheno.ontology MP:0010352 gastrointestinal tract polyps MP:0010352 abnormal tissue masses that protrude into the lumen of the gastrointestinal tract and are tethered to the wall of the gastrointestinal tract https://orcid.org/0000-0003-3691-0324 greater than the expected number of a hamartomatous odontogenic tumor composed of enamel, dentin, cementum, and pulp tissue that may or may not be arranged in the form of a tooth, occurring in a specific population in a given time period csmith 2010-08-16T04:46:28Z MPheno.ontology MP:0010353 increased odontoma incidence MP:0010353 greater than the expected number of a hamartomatous odontogenic tumor composed of enamel, dentin, cementum, and pulp tissue that may or may not be arranged in the form of a tooth, occurring in a specific population in a given time period ISBN:0-683-40008-8 greater than the expected number of an a gnathic malignant connective tissue tumor in which the epithelial component is benign and the proliferative mesenchymal component is malignant, occurring in a specific population in a given time period csmith 2010-08-16T04:50:24Z increased ameloblastic fibro-odontosarcoma incidence increased ameloblastic odontosarcoma incidence increased odontogenic sarcoma incidence MPheno.ontology MP:0010354 increased odontosarcoma incidence MP:0010354 greater than the expected number of an a gnathic malignant connective tissue tumor in which the epithelial component is benign and the proliferative mesenchymal component is malignant, occurring in a specific population in a given time period PMID:10587276 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the vessels formed within the first pair of branchial arches in embryogenesis csmith 2010-08-17T11:54:12Z abnormal first PAA abnormal first aortic arch morphology abnormal first branchial arch artery morphology MPheno.ontology MP:0010355 abnormal first pharyngeal arch artery morphology MP:0010355 any structural anomaly of the vessels formed within the first pair of branchial arches in embryogenesis https://orcid.org/0000-0003-3691-0324 any structural anomaly of the vessels formed within the second pair of branchial arches in embryogenesis csmith 2010-08-17T11:54:12Z abnormal second PAA abnormal second aortic arch morphology abnormal second branchial arch artery morphology MPheno.ontology MP:0010356 abnormal second pharyngeal arch artery morphology MP:0010356 any structural anomaly of the vessels formed within the second pair of branchial arches in embryogenesis https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplams in the prostate gland occurring in a specific population in a given time period csmith 2010-08-17T12:47:29Z MP:0003831 increased prostate gland tumour incidence MPheno.ontology prostate tumor prostate tumour MP:0010357 increased prostate gland tumor incidence MP:0010357 greater than the expected number of neoplams in the prostate gland occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 any anomaly in the concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues csmith 2010-08-18T11:05:18Z abnormal FFA level abnormal free fatty acid level abnormal non-esterified fatty acids level MPheno.ontology MP:0010358 abnormal free fatty acids level MP:0010358 any anomaly in the concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues ISBN:0-683-40008-8 elevated liver concentrations of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues csmith 2010-08-18T11:06:02Z increased hepatic free fatty acids level increased liver free fatty acid level MPheno.ontology MP:0010359 increased liver free fatty acids level MP:0010359 elevated liver concentrations of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues ISBN:0-683-40008-8 reduced liver concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues csmith 2010-08-18T11:06:34Z decreased hepatic free fatty acids level decreased liver free fatty acid level reduced hepatic free fatty acids level reduced liver free fatty acids level MPheno.ontology MP:0010360 decreased liver free fatty acids level MP:0010360 reduced liver concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues ISBN:0-683-40008-8 greater than the expected number of a highly aggressive malignant neoplasm arising from mature ganglionic neurons, in a specific population in a given time period csmith 2010-08-19T10:10:15Z increased ganglioneurosarcoma incidence MPheno.ontology MP:0010361 increased gangliosarcoma incidence MP:0010361 greater than the expected number of a highly aggressive malignant neoplasm arising from mature ganglionic neurons, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of a benign neoplasm composed of mature ganglionic neurons in a given population in a given time period; cells may be scattered singly or in clumps within a relatively abundant and dense stroma of neurofibrils and collagenous fibers csmith 2010-08-19T10:11:35Z MPheno.ontology MP:0010362 increased ganglioneuroma incidence MP:0010362 greater than the expected number of a benign neoplasm composed of mature ganglionic neurons in a given population in a given time period; cells may be scattered singly or in clumps within a relatively abundant and dense stroma of neurofibrils and collagenous fibers MPATH:375 greater than the expected number of a highly aggressive malignant neoplasm arising from fibrous connective tissue, in a specific population in a given time period csmith 2010-08-19T10:31:47Z MP:0002029 increased fibroblastic sarcoma incidence MPheno.ontology MP:0010363 increased fibrosarcoma incidence MP:0010363 greater than the expected number of a highly aggressive malignant neoplasm arising from fibrous connective tissue, in a specific population in a given time period ISBN:0-683-40008-8 greater than the expected number of a benign mammary gland tumor composed of both fibrous tissue and glandular tissue, in a specific population in a given time period csmith 2010-08-19T10:45:18Z MP:0003343 increased breast fibroadenoma incidence increased mammary gland fibroadenoma incidence MPheno.ontology MP:0010364 increased fibroadenoma incidence MP:0010364 greater than the expected number of a benign mammary gland tumor composed of both fibrous tissue and glandular tissue, in a specific population in a given time period CDR:523438 greater than the expected number of neoplams in the thymus occurring in a specific population in a given time period csmith 2010-08-26T03:38:42Z increased thymic tumor incidence increased thymic tumour incidence increased thymus tumour incidence MPheno.ontology MP:0010365 increased thymus tumor incidence MP:0010365 greater than the expected number of neoplams in the thymus occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplams in the adrenal cortex occurring in a specific population in a given time period csmith 2010-08-26T03:42:09Z increased adrenal cortical tumour incidence MPheno.ontology MP:0010366 increased adrenal cortical tumor incidence MP:0010366 greater than the expected number of neoplams in the adrenal cortex occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle shape cells with sarcomatous appearance csmith 2010-08-26T03:54:01Z increased SpCC incidence increased pseudosarcoma incidence increased sarcomatoid carcinoma incidence MPheno.ontology MP:0010367 increased spindle cell carcinoma incidence MP:0010367 greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle shape cells with sarcomatous appearance PMID:19040765 any functional anomaly of the interconnected system of spaces, organs and vessels between body tissues and organs through which fluid, fats, proteins, and lymphocytes are transported to the bloodstream as lymph, and microorganisms and other debris are removed from tissues csmith 2010-08-27T09:42:10Z abnormal lymph system physiology abnormal lymphoid system physiology MPheno.ontology MP:0010368 abnormal lymphatic system physiology MP:0010368 any functional anomaly of the interconnected system of spaces, organs and vessels between body tissues and organs through which fluid, fats, proteins, and lymphocytes are transported to the bloodstream as lymph, and microorganisms and other debris are removed from tissues https://orcid.org/0000-0003-3691-0324 any structural anomaly of the impulse-conducting cells in the thalamus or its parts, a midline paired symmetrical structure between the cerebral cortex and midbrain within the brain that controls the flow of information to the cortex csmith 2010-08-27T12:34:11Z abnormal thalamic neuron morphology MPheno.ontology MP:0010369 abnormal thalamus neuron morphology MP:0010369 any structural anomaly of the impulse-conducting cells in the thalamus or its parts, a midline paired symmetrical structure between the cerebral cortex and midbrain within the brain that controls the flow of information to the cortex MGI:llw2 https://orcid.org/0000-0003-3691-0324 any structural anomaly in the anterior part of the neck, in front of the vertebral column comprising the pharynx and larynx csmith 2010-08-27T12:38:50Z abnormal fauces morphology MPheno.ontology MP:0010370 abnormal throat morphology MP:0010370 any structural anomaly in the anterior part of the neck, in front of the vertebral column comprising the pharynx and larynx MGI:llw2 any structural anomaly of the most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink csmith 2010-08-27T12:39:55Z MP:0002259 MPheno.ontology MP:0010371 abnormal epiglottis morphology MP:0010371 any structural anomaly of the most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink MGI:llw2 presence of one or more fluid-filled, usually benign, growths in the passage from the mouth to the pharynx csmith 2010-08-27T12:40:34Z cystic throat throat cysts MPheno.ontology MP:0010372 throat cyst MP:0010372 presence of one or more fluid-filled, usually benign, growths in the passage from the mouth to the pharynx MGI:llw2 greater than normal number of nucleated cells of the myeloid lineage (a monocyte, granulocyte, or mast cell), found in blood or other tissue csmith 2010-08-27T12:59:47Z MPheno.ontology enhanced myelopoesis MP:0010373 myeloid hyperplasia MP:0010373 greater than normal number of nucleated cells of the myeloid lineage (a monocyte, granulocyte, or mast cell), found in blood or other tissue https://orcid.org/0000-0003-3691-0324 caliculi in the gallbladder or a bile duct that is composed of calcium bilirubinate csmith 2010-08-27T01:03:46Z black stones calcium bilirubinate stones pigment stones MPheno.ontology MP:0010374 bilirubinate stones MP:0010374 caliculi in the gallbladder or a bile duct that is composed of calcium bilirubinate https://orcid.org/0000-0003-3691-0324 increase in the amount of iron present in the renal tissue csmith 2010-08-27T01:28:09Z increased renal iron level kidney iron deposits renal iron deposits MPheno.ontology MP:0010375 increased kidney iron level MP:0010375 increase in the amount of iron present in the renal tissue MGI:llw2 reduction in the amount of iron present in the renal tissue csmith 2010-08-27T01:28:25Z decreased renal iron level reduced kidney iron level reduced renal iron level MPheno.ontology MP:0010376 decreased kidney iron level MP:0010376 reduction in the amount of iron present in the renal tissue MGI:llw2 anomaly in the ratio of microorganisms that live in the digestive tracts of animals, many of which perform symbiotic functions to the host csmith 2010-08-27T04:00:05Z MPheno.ontology MP:0010377 abnormal gut flora balance MP:0010377 anomaly in the ratio of microorganisms that live in the digestive tracts of animals, many of which perform symbiotic functions to the host https://orcid.org/0000-0003-3691-0324 increase in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls csmith 2010-09-16T02:01:33Z increased RQ increased respiratory exchange ratio MPheno.ontology MP:0010378 increased respiratory quotient MP:0010378 increase in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls https://orcid.org/0000-0003-3691-0324 reduction in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls csmith 2010-09-16T02:01:46Z decreased RQ decreased respiratory exchange ratio reduced RQ reduced respiratory exchange ratio MPheno.ontology MP:0010379 decreased respiratory quotient MP:0010379 reduction in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls https://orcid.org/0000-0003-3691-0324 the cells of the blastocyst that develop into the body of the embryo are undergoing programmed cell death csmith 2010-09-16T04:06:47Z MPheno.ontology MP:0010380 abnormal inner cell mass apoptosis MP:0010380 the cells of the blastocyst that develop into the body of the embryo are undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 anomaly in the process of compensating for the two-fold variation in X:autosome chromosome ratios between sexes by a global activation or inactivation of all, or most of, genes on one or both of the X chromosomes csmith 2010-09-20T10:01:32Z MPheno.ontology MP:0010381 abnormal dosage compensation MP:0010381 anomaly in the process of compensating for the two-fold variation in X:autosome chromosome ratios between sexes by a global activation or inactivation of all, or most of, genes on one or both of the X chromosomes GO:0007549 anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex csmith 2010-09-20T10:03:17Z abnormal Barr body formation abnormal X chromosome inactivation MPheno.ontology MP:0010382 abnormal dosage compensation, by inactivation of X chromosome MP:0010382 anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex GO:0009048 greater than the expected number of a benign epithelial neoplasm with a glandular organization, occurring in a specific population in a given time period; this tumor type usually does not invade or infiltrate surrounding tissue but may remain a benign tumor or progress to malignancy csmith 2010-09-20T02:43:52Z MP:0002815 MPheno.ontology MP:0010383 increased adenoma incidence MP:0010383 greater than the expected number of a benign epithelial neoplasm with a glandular organization, occurring in a specific population in a given time period; this tumor type usually does not invade or infiltrate surrounding tissue but may remain a benign tumor or progress to malignancy ISBN:0-683-40008-8 MESH:C04.557.470.035 greater than the expected number of malignant neoplasms arising from kidney epithelial tissue, occurring in a specific population in a given time period csmith 2010-09-20T02:48:36Z MP:0002046 increased kidney carcinoma incidence MPheno.ontology MP:0010384 increased renal carcinoma incidence MP:0010384 greater than the expected number of malignant neoplasms arising from kidney epithelial tissue, occurring in a specific population in a given time period ISBN:0-683-40008-8 any structural anomaly of the neurons that utilize glycine as a neurotransmitter csmith 2010-09-20T03:27:41Z MPheno.ontology MP:0010385 abnormal glycinergic neuron morphology MP:0010385 any structural anomaly of the neurons that utilize glycine as a neurotransmitter ISBN:0838580343 any functional anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys csmith 2010-09-20T03:36:07Z MP:0005303 functional abnormality of the bladder urinary bladder dysfunction MPheno.ontology MP:0010386 abnormal urinary bladder physiology MP:0010386 any functional anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys ISBN:0-683-40008-8 any structural anomaly of one or more astrocyte-type glia cells associated with Purkinje cells in the cerebellum csmith 2010-09-20T03:55:18Z abnormal Bergmann glia MPheno.ontology MP:0010387 abnormal Bergmann glial cell morphology MP:0010387 any structural anomaly of one or more astrocyte-type glia cells associated with Purkinje cells in the cerebellum ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 abnormal formation of the astrocyte-type glia cells associated with Purkinje cells in the cerebellum csmith 2010-09-20T03:56:52Z MPheno.ontology MP:0010388 abnormal Bergmann glial cell differentiation MP:0010388 abnormal formation of the astrocyte-type glia cells associated with Purkinje cells in the cerebellum ISBN:0-683-40008-8 a random coat color pattern due to genetically different populations of cells in the skin e.g. as the result of X-inactivation csmith 2010-09-20T04:12:23Z mosaic coat colour MPheno.ontology MP:0010389 In the vocabulary of mouse coat color geneticists, "mosaic" is a special-case patterning; only some cases of variegated coat color are mosaic. mosaic coat color MP:0010389 a random coat color pattern due to genetically different populations of cells in the skin e.g. as the result of X-inactivation MGI:llw2 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the adrenal cortex, occurring in a specific population in a given time period csmith 2010-09-21T11:09:18Z increased adrenal cortex adenoma incidence increased adrenal cortical adenoma incidence MPheno.ontology MP:0010390 increased adrenocortical adenoma incidence MP:0010390 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the adrenal cortex, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of a benign neoplasm derived from striated muscle and comprised of an encapsulated mass of polygonal cells, occurring in a specific population in a given time period csmith 2010-09-21T12:39:56Z MP:0006139 MPheno.ontology MP:0010391 increased rhabdomyoma incidence MP:0010391 greater than the expected number of a benign neoplasm derived from striated muscle and comprised of an encapsulated mass of polygonal cells, occurring in a specific population in a given time period ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 increase in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart csmith 2010-09-22T12:42:32Z QRS interval elongation prolonged QRS duration prolonged QRS interval widened QRS complex MPheno.ontology MP:0010392 prolonged QRS complex duration MP:0010392 increase in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart https://orcid.org/0000-0003-3691-0324 decrease in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart csmith 2010-09-22T02:37:21Z narrow QRS complex shortened QRS duration shortened QRS interval MPheno.ontology MP:0010393 shortened QRS complex duration MP:0010393 decrease in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart https://orcid.org/0000-0003-3691-0324 reduction in the size (height or maximum displacement) of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction, suggesting ventricular excitation defects csmith 2010-09-22T02:39:35Z reduced R wave amplitude MPheno.ontology reduced QRS amplitude MP:0010394 decreased QRS amplitude MP:0010394 reduction in the size (height or maximum displacement) of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction, suggesting ventricular excitation defects https://orcid.org/0000-0003-3691-0324 abnormal formation of the of the transient structures of the embryo that develop into regions of the head, neck and ears csmith 2010-09-22T03:33:41Z abnormal branchial arch development MPheno.ontology MP:0010395 abnormal pharyngeal arch development MP:0010395 abnormal formation of the of the transient structures of the embryo that develop into regions of the head, neck and ears MGI:llw2 abnormal location of any of the transient structures of the embryo resulting in misplaced regions of the head, neck and/or ears csmith 2010-09-22T03:35:03Z ectopic branchial arch MPheno.ontology MP:0010396 ectopic pharyngeal arch MP:0010396 abnormal location of any of the transient structures of the embryo resulting in misplaced regions of the head, neck and/or ears MGI:llw2 any anomaly in the embryonic cartilage covering that surrounds the inner ear mechanism and develops into bone csmith 2010-09-22T03:40:07Z abnormal auditory capsule development MPheno.ontology MP:0010397 abnormal otic capsule development MP:0010397 any anomaly in the embryonic cartilage covering that surrounds the inner ear mechanism and develops into bone MGI:llw2 less than the normal concentration of a readily converted carbohydrate reserve in liver csmith 2010-09-22T03:56:01Z decreased hepatic glycogen level reduced hepatic glycogen level MPheno.ontology reduced liver glycogen level MP:0010398 decreased liver glycogen level MP:0010398 less than the normal concentration of a readily converted carbohydrate reserve in liver https://orcid.org/0000-0003-3691-0324 less than the normal concentration of a readily converted carbohydrate reserve in skeletal muscle csmith 2010-09-22T03:58:07Z decreased striated muscle glycogen level reduced skeletal muscle glycogen level reduced striated muscle glycogen level MPheno.ontology MP:0010399 decreased skeletal muscle glycogen level MP:0010399 less than the normal concentration of a readily converted carbohydrate reserve in skeletal muscle https://orcid.org/0000-0003-3691-0324 greater than the normal concentration of a readily converted carbohydrate reserve in liver csmith 2010-09-22T04:00:20Z increased hepatic glycogen level MPheno.ontology MP:0010400 increased liver glycogen level MP:0010400 greater than the normal concentration of a readily converted carbohydrate reserve in liver https://orcid.org/0000-0003-3691-0324 greater than the normal concentration of a readily converted carbohydrate reserve in skeletal muscle csmith 2010-09-22T04:00:40Z increased striated muscle glycogen level MPheno.ontology MP:0010401 increased skeletal muscle glycogen level MP:0010401 greater than the normal concentration of a readily converted carbohydrate reserve in skeletal muscle https://orcid.org/0000-0003-3691-0324 abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions csmith 2010-09-24T03:08:25Z Fyler:1300 VSD interventricular septal defect ventricular septum foramen MPheno.ontology MP:0010402 The term name is common usage among cardiologists and refers to the specific state in the definition (abnormal communications); do not confuse with parent term. ventricular septal defect MP:0010402 abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions MESH:C14.240.400.560.540 abnormal communications between the two upper chambers of the heart, including such defects in any or all of the ostium primum, ostium secundum, sinus venosus, and coronary sinus regions csmith 2010-09-24T03:16:37Z Fyler:2050 ASD atrial septum foramen interatrial septal defect MPheno.ontology MP:0010403 The term name is common usage among cardiologists and refers to the specific state in the definition (abnormal communications); do not confuse with parent term. atrial septal defect MP:0010403 abnormal communications between the two upper chambers of the heart, including such defects in any or all of the ostium primum, ostium secundum, sinus venosus, and coronary sinus regions MESH:C14.240.400.560.375 interatrial communication (atrial septal defect) through the most anterior and inferior aspect of the atrial septum csmith 2010-09-27T10:21:21Z Fyler:1110 ostium primum ASD primum ASD primum atrial septal defect MPheno.ontology MP:0010404 ostium primum atrial septal defect MP:0010404 interatrial communication (atrial septal defect) through the most anterior and inferior aspect of the atrial septum http://emedicine.medscape.com https://orcid.org/0000-0003-3691-0324 large interatrial communication (atrial septal defect) through the center of the wall between the atria at the site of the foramen ovale and the ostium secundum csmith 2010-09-27T10:21:42Z Fyler:2000 ostium secundum ASD secundum ASD secundum atrial septal defect MPheno.ontology MP:0010405 ostium secundum atrial septal defect MP:0010405 large interatrial communication (atrial septal defect) through the center of the wall between the atria at the site of the foramen ovale and the ostium secundum http://emedicine.medscape.com https://orcid.org/0000-0003-3691-0324 absence of the thin membranous structure between the two heart atria, resulting in the appearance of one upper chamber csmith 2010-09-27T10:22:18Z Fyler:1140 absent atrial septum absent atrium septum absent interatrial septal wall absent interatrial septum common atrium ASD single atrium ASD single atrium atrial septal defect MPheno.ontology MP:0010406 common atrium MP:0010406 absence of the thin membranous structure between the two heart atria, resulting in the appearance of one upper chamber https://orcid.org/0000-0003-3691-0324 interatrial communication (atrial septal defect) through coronary sinus orifice, that is characterized by the absence of at least a portion of the common wall that separates the coronary sinus and the left atrium; interatrial shunting occurs through the defect in the wall on the left atrial side, which is continuous with the orifice of the coronary sinus opening on the right atrial side of the septum csmith 2010-09-27T10:22:34Z coronary sinus ASD MPheno.ontology MP:0010407 coronary sinus atrial septal defect MP:0010407 interatrial communication (atrial septal defect) through coronary sinus orifice, that is characterized by the absence of at least a portion of the common wall that separates the coronary sinus and the left atrium; interatrial shunting occurs through the defect in the wall on the left atrial side, which is continuous with the orifice of the coronary sinus opening on the right atrial side of the septum http://emedicine.medscape.com https://orcid.org/0000-0003-3691-0324 interatrial communication (atrial septal defect) through the upper atrial septum and that is contiguous with the superior vena cava (SVC); it is rostral and posterior to the fossa ovalis (where secundum type defects occur) and is separate from it csmith 2010-09-27T11:20:28Z Fyler:2010 sinus venosum ASD sinus venosus ASD MPheno.ontology MP:0010408 sinus venosus atrial septal defect MP:0010408 interatrial communication (atrial septal defect) through the upper atrial septum and that is contiguous with the superior vena cava (SVC); it is rostral and posterior to the fossa ovalis (where secundum type defects occur) and is separate from it http://emedicine.medscape.com https://orcid.org/0000-0003-3691-0324 a heart with 3 atria, is in which either the left or right atrium is divided into 2 parts by a fold of tissue, a membrane, or a fibromuscular band that may vary significantly in size and shape, appearing similar to a diaphragm or funnel-shaped, bandlike, entirely intact (imperforate) or contain 1 or more openings (fenestrations) ranging from small, restrictive-type to large and widely open csmith 2010-09-27T12:39:50Z Fyler:3031 triatrial heart MPheno.ontology MP:0010409 cor triatriatum MP:0010409 a heart with 3 atria, is in which either the left or right atrium is divided into 2 parts by a fold of tissue, a membrane, or a fibromuscular band that may vary significantly in size and shape, appearing similar to a diaphragm or funnel-shaped, bandlike, entirely intact (imperforate) or contain 1 or more openings (fenestrations) ranging from small, restrictive-type to large and widely open http://emedicine.medscape.com a heart with 3 atria, is in which the left atrium is divided into 2 parts by a fold of tissue, a membrane, or a fibromuscular band csmith 2010-09-27T12:40:08Z MPheno.ontology MP:0010410 cor triatriatum sinistrum MP:0010410 a heart with 3 atria, is in which the left atrium is divided into 2 parts by a fold of tissue, a membrane, or a fibromuscular band http://emedicine.medscape.com a heart with 3 atria, is in which the right atrium is divided into 2 parts by a fold of tissue, a membrane, or a fibromuscular band csmith 2010-09-27T12:40:27Z Fyler:2854 cor triatriatum dextra MPheno.ontology MP:0010411 cor triatriatum dextrum MP:0010411 a heart with 3 atria, is in which the right atrium is divided into 2 parts by a fold of tissue, a membrane, or a fibromuscular band http://emedicine.medscape.com defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD) csmith 2010-09-27T02:50:46Z Fyler:1100 AV septal defect AVC AVCD AVSD Atrioventricular canal (endocardial cushion defect) ECD atrioventricular canal defect endocardial cushion defect MPheno.ontology MP:0010412 The term name is common usage among cardiologists and refers to the specific state in the definition (abnormal communications); do not confuse with parent term. atrioventricular septal defect MP:0010412 defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD) http://emedicine.medscape.com a type of atrioventricular septal defect in which a single atrioventricular valve annulus, a common atrioventricular valve, and a defect of the inlet ventricular septum are observed; deficiency of the atrioventricular septum also results in the presence of a large primum atrial septal defect csmith 2010-09-27T03:17:33Z Fyler:1120 common atrioventricular canal complete AVC complete AVSD complete ECD complete atrioventricular canal defect complete common AV canal complete common atrioventricular canal complete endocardial cushion defect MPheno.ontology MP:0010413 complete atrioventricular septal defect MP:0010413 a type of atrioventricular septal defect in which a single atrioventricular valve annulus, a common atrioventricular valve, and a defect of the inlet ventricular septum are observed; deficiency of the atrioventricular septum also results in the presence of a large primum atrial septal defect http://emedicine.medscape.com a type of atrioventricular septal defect in which the endocardial cushion defects present have an interatrial communication but lack an interventricular communication; the mitral and tricuspid annuli are separate but one or more additional features are present, including primum atrial septal defect (ASD), inlet ventricular septal defect (VSD), cleft of the anterior mitral valve leaflet, and wide anteroseptal tricuspid valve commissure or cleft septal tricuspid leaflet csmith 2010-09-27T03:18:02Z partial AVC partial AVSD partial ECD partial atrioventricular canal defect partial common atrioventricular canal partial endocardial cushion defect MPheno.ontology MP:0010414 partial atrioventricular septal defect MP:0010414 a type of atrioventricular septal defect in which the endocardial cushion defects present have an interatrial communication but lack an interventricular communication; the mitral and tricuspid annuli are separate but one or more additional features are present, including primum atrial septal defect (ASD), inlet ventricular septal defect (VSD), cleft of the anterior mitral valve leaflet, and wide anteroseptal tricuspid valve commissure or cleft septal tricuspid leaflet http://emedicine.medscape.com a type of atrioventricular septal defect in which a partial AVSD is present together with a small interventricular communication; a single valvar annulus is usually present where the anterior and posterior bridging leaflets fuse overlying the ventricular septum, with two distinct valvar components observed csmith 2010-09-27T03:29:50Z Fyler:1121 intermediate AVC intermediate AVSD intermediate ECD intermediate atrioventricular canal defect intermediate endocardial cushion defect transitional common atrioventricular canal MPheno.ontology MP:0010415 intermediate atrioventricular septal defect MP:0010415 a type of atrioventricular septal defect in which a partial AVSD is present together with a small interventricular communication; a single valvar annulus is usually present where the anterior and posterior bridging leaflets fuse overlying the ventricular septum, with two distinct valvar components observed http://emedicine.medscape.com a a saclike thinning, stretching and widening of the ventricular membranous septum resulting from weakening of the membraneous septum wall csmith 2010-09-27T03:54:46Z Fyler:2346 aneurysm of membranous septum ventricular membranous septum aneurysm MPheno.ontology MP:0010416 interventricular septum membranous part aneurysm MP:0010416 a a saclike thinning, stretching and widening of the ventricular membranous septum resulting from weakening of the membraneous septum wall ISBN:0-683-40008-8 abnormal communications between the two lower chambers of the heart, located beneath the pulmonic valve, communicating with the RV outflow tract above the supraventricular crest, and are associated with aortic regurgitation secondary to the prolapse of the right aortic cusp csmith 2010-09-27T04:09:31Z Fyler:1330 VSD, Type 1 conal septal defect conal septal ventricular septal defect conus ventricular septal defect infundibular ventricular septal defect outlet ventricular septal defect subarterial doubly committed ventricular septal defect subpulmonic ventricular septal defect supracristal ventricular septal defect MPheno.ontology MP:0010417 subarterial ventricular septal defect MP:0010417 abnormal communications between the two lower chambers of the heart, located beneath the pulmonic valve, communicating with the RV outflow tract above the supraventricular crest, and are associated with aortic regurgitation secondary to the prolapse of the right aortic cusp http://emedicine.medscape.com abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect csmith 2010-09-27T04:12:45Z Fyler:1310 VSD, Type 2 conoventricular ventricular septal defect high ventricular septal defect infracristal ventricular septal defect paramembranous ventricular septal defect pmVSD ventricular septal defect, membranous perimembranous inlet ventricular septal defect perimembranous muscular ventricular septal defect perimembranous outlet ventricular septal defect MPheno.ontology membraneous ventricular septal defect MP:0010418 perimembraneous ventricular septal defect MP:0010418 abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect http://emedicine.medscape.com abnormal communications between the two lower chambers of the heart, located posterior to the septal leaflet of the tricuspid valve and which are not associated with defects of the atrioventricular valves csmith 2010-09-27T04:13:10Z Fyler:1340 AV Canal type VSD AV septum-type ventricular septum defect VSD, Type 3 Ventricular septal defect, ECD type canal-type ventricular septal defect endocardial cushion-type ventricular septal defect inlet-type ventricular septal defect juxtatricuspid ventricular septal defect posterior ventricular septal defect MPheno.ontology MP:0010419 inlet ventricular septal defect MP:0010419 abnormal communications between the two lower chambers of the heart, located posterior to the septal leaflet of the tricuspid valve and which are not associated with defects of the atrioventricular valves http://emedicine.medscape.com abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect csmith 2010-09-27T04:13:52Z Fyler:1320 Swiss-cheese septum VSD, Type 4 mVSD trabecular ventricular septal defect ventricular septal defect, muscular MPheno.ontology MP:0010420 muscular ventricular septal defect MP:0010420 abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect http://emedicine.medscape.com thinning, stretching and bulging of a weakened ventricular wall csmith 2010-09-28T11:25:43Z cardiac aneurysm mural aneurysm MPheno.ontology MP:0010421 ventricular aneurysm MP:0010421 thinning, stretching and bulging of a weakened ventricular wall ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the heart right ventricle, typically resulting in decreased size csmith 2010-09-28T11:33:10Z Fyler:1821 hypoplastic RV right ventricular hypoplasia MPheno.ontology MP:0010422 heart right ventricle hypoplasia MP:0010422 decrease in the number of normal cells in normal arrangement in the heart right ventricle, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 thinning, stretching and bulging of a weakened heart right ventricular wall csmith 2010-09-28T11:44:38Z Fyler:2333 MPheno.ontology MP:0010423 heart right ventricle aneurysm MP:0010423 thinning, stretching and bulging of a weakened heart right ventricular wall ISBN:0-683-40008-8 septated right ventricle caused by the presence of abnormally located or hypertrophied cardiac muscle bands that divide the ventricular cavity into a proximal and a distal chamber; the muscle bundles typically run between an area located in the ventricular septum, beneath the level of the septal leaflet of the tricuspid valve, and the anterior wall of the right ventricle csmith 2010-09-28T11:47:43Z septated right ventricle DCRV Double-Chambered Right Ventricle double chambered RV double chambered right ventricle MPheno.ontology MP:0010424 double chambered heart right ventricle MP:0010424 septated right ventricle caused by the presence of abnormally located or hypertrophied cardiac muscle bands that divide the ventricular cavity into a proximal and a distal chamber; the muscle bundles typically run between an area located in the ventricular septum, beneath the level of the septal leaflet of the tricuspid valve, and the anterior wall of the right ventricle http://emedicine.medscape.com any anomaly in the in the position or pattern of the connection site of the heart to any of the primary vessels, including the superior vena cavae, inferior vena cavae, pulmonary artery, pulmonary veins, and aorta csmith 2010-09-28T12:37:59Z MPheno.ontology MP:0010425 abnormal heart and great vessel attachment MP:0010425 any anomaly in the in the position or pattern of the connection site of the heart to any of the primary vessels, including the superior vena cavae, inferior vena cavae, pulmonary artery, pulmonary veins, and aorta https://orcid.org/0000-0003-3691-0324 any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta csmith 2010-09-28T12:45:42Z MPheno.ontology MP:0010426 abnormal heart and great artery attachment MP:0010426 any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta https://orcid.org/0000-0003-3691-0324 both the aorta and the pulmonary trunk originate from the left ventricle csmith 2010-09-28T12:52:51Z Fyler:0650 Fyler:650 DOLV double outlet heart left ventricle MPheno.ontology MP:0010427 double outlet left ventricle MP:0010427 both the aorta and the pulmonary trunk originate from the left ventricle https://orcid.org/0000-0003-3691-0324 any structural anomaly of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk csmith 2010-09-28T01:22:48Z MP:0009464 abnormal RVOT abnormal arterial cone morphology abnormal conus arteriosus morphology abnormal infundibulum of right ventricle abnormal infundibulum of the heart abnormal pulmonary cone morphology abnormal pulmonary conus abnormal right ventricle pulmonary outflow tract MPheno.ontology MP:0010428 abnormal heart right ventricle outflow tract morphology MP:0010428 any structural anomaly of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta csmith 2010-09-28T01:23:35Z abnormal LVOT abnormal Sibson vestibule abnormal aortic vestibule morphology abnormal left ventricular outflow region morphology abnormal outflow tract of left ventricle morphology MPheno.ontology abnormal outflow part of left ventricle morphology MP:0010429 abnormal heart left ventricle outflow tract morphology MP:0010429 any structural anomaly of the anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 the pulmonary veins drain via a common vein into the right superior vena cava, left superior vena cava, or their tributaries instead of the left atrium csmith 2010-09-28T03:41:50Z Fyler:0910 Fyler:910 TAPVC, Type 1 (supracardiac) totally anomalous pulmonary venous return, supracardiac MPheno.ontology MP:0010430 total anomalous pulmonary venous connection, supracardiac MP:0010430 the pulmonary veins drain via a common vein into the right superior vena cava, left superior vena cava, or their tributaries instead of the left atrium http://emedicine.medscape.com anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the opposite side of the body csmith 2010-09-28T01:50:46Z Fyler:0150 Fyler:150 inverted atria MPheno.ontology MP:0010431 atrial situs inversus MP:0010431 anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the opposite side of the body https://orcid.org/0000-0003-3691-0324 the presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle csmith 2010-09-28T01:54:56Z Fyler:0200 Fyler:200 single ventricle univentricular heart MPheno.ontology absent interventricular septum MP:0010432 common ventricle MP:0010432 the presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle https://orcid.org/0000-0003-3691-0324 congenital heart defect in which both atriums are connected to the left ventricle, with a hypoplastic right ventricle often present, which may be on the opposite side of the heart csmith 2010-09-28T02:00:04Z MP:0005295 DILV double inlet left ventricle MPheno.ontology MP:0010433 double inlet heart left ventricle MP:0010433 congenital heart defect in which both atriums are connected to the left ventricle, with a hypoplastic right ventricle often present, which may be on the opposite side of the heart https://orcid.org/0000-0003-3691-0324 congenital heart defect in which both atriums are connected to the right ventricle, with a hypoplastic left ventricle often present csmith 2010-09-28T02:00:44Z DIRV double inlet right ventricle MPheno.ontology MP:0010434 double inlet heart right ventricle MP:0010434 congenital heart defect in which both atriums are connected to the right ventricle, with a hypoplastic left ventricle often present PMID:7008335 any anomaly in the in the position or pattern of the connection site of the heart atrium to the ventricles, usually occurring through the atrioventricular valves csmith 2010-09-28T02:13:14Z abnormal AV connections abnormal VA connections abnormal atrioventricular connection MPheno.ontology MP:0010435 abnormal heart atrium and ventricle connection MP:0010435 any anomaly in the in the position or pattern of the connection site of the heart atrium to the ventricles, usually occurring through the atrioventricular valves https://orcid.org/0000-0003-3691-0324 any structural anomaly of the short trunk that recieves most of the cardiac veins carrying the blood from the myocardium and delivers it to the right atrium, with the sinoatrial connection occurring between the inferior vena cava and the atrioventricular orifice csmith 2010-09-28T02:33:34Z Fyler:2840 abnormal sinus coronarius morphology MPheno.ontology MP:0010436 abnormal coronary sinus morphology MP:0010436 any structural anomaly of the short trunk that recieves most of the cardiac veins carrying the blood from the myocardium and delivers it to the right atrium, with the sinoatrial connection occurring between the inferior vena cava and the atrioventricular orifice ISBN:0-683-40008-8 absence of the short trunk that recieves most of the cardiac veins carrying the blood from the myocardium and delivers it to the right atrium csmith 2010-09-28T02:37:37Z Fyler:2841 absent sinus coronarius MPheno.ontology MP:0010437 absent coronary sinus MP:0010437 absence of the short trunk that recieves most of the cardiac veins carrying the blood from the myocardium and delivers it to the right atrium ISBN:0-683-40008-8 abnormal narrowing or constriction of the lumen of the pulmonary vein csmith 2010-09-28T02:41:28Z Fyler:3002 pulmonary vein stricture MPheno.ontology pulmonary venous obstruction MP:0010438 pulmonary vein stenosis MP:0010438 abnormal narrowing or constriction of the lumen of the pulmonary vein https://orcid.org/0000-0003-3691-0324 any structural anomaly of the veins that drain blood from the liver and terminate in three large openings to the inferior vena cava below the diaphragm and into smaller openings in more inferior positions csmith 2010-09-28T02:54:04Z MPheno.ontology MP:0010439 abnormal hepatic vein morphology MP:0010439 any structural anomaly of the veins that drain blood from the liver and terminate in three large openings to the inferior vena cava below the diaphragm and into smaller openings in more inferior positions ISBN:0-683-40008-8 abnormal development and attachment of the four pulmonary veins that normally attach to the left atrium of the heart, resulting in either partial or complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery csmith 2010-09-28T03:01:06Z APVC abnormal lung vein connection abnormal pulmonary vein connection MPheno.ontology anomalous pulmonary venous return MP:0010440 The word "anomalous" in this term and its children was used instead of abnormal since this is common usage among cardiologists. anomalous pulmonary venous connection MP:0010440 abnormal development and attachment of the four pulmonary veins that normally attach to the left atrium of the heart, resulting in either partial or complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery http://emedicine.medscape.com abnormal development and attachment of all four pulmonary veins that normally attach to the left atrium of the heart, resulting in complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery; in TAPVC, none of the four pulmonary veins are attached to the left atrium csmith 2010-09-28T03:01:58Z Fyler:0900 Fyler:900 TAPVC TAPVD TAPVR total anomalous pulmonary venous drainage total anomalous pulmonary venous return totally anomalous pulmonary venous return MPheno.ontology MP:0010441 total anomalous pulmonary venous connection MP:0010441 abnormal development and attachment of all four pulmonary veins that normally attach to the left atrium of the heart, resulting in complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery; in TAPVC, none of the four pulmonary veins are attached to the left atrium http://emedicine.medscape.com abnormal development and attachment of one to three of the four pulmonary veins that normally attach to the left atrium of the heart, resulting in partial drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery; in PAPVC, at least one pulmonary vein remains attached to the left atrium csmith 2010-09-28T03:05:45Z Fyler:2030 PAPVC PAPVR partial anomalous pulmonary venous return partially anomalous pulmonary venous connection(s) MPheno.ontology MP:0010442 partial anomalous pulmonary venous connection MP:0010442 abnormal development and attachment of one to three of the four pulmonary veins that normally attach to the left atrium of the heart, resulting in partial drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery; in PAPVC, at least one pulmonary vein remains attached to the left atrium http://emedicine.medscape.com the pulmonary veins connect directly to the right side of heart (eg, coronary sinus or directly to the right atrium) instead of the left atrium csmith 2010-09-28T03:42:16Z Fyler:0920 Fyler:0930 Fyler:920 Fyler:930 TAPVC, Type 2 (cardiac) totally anomalous pulmonary venous return, coronary sinus totally anomalous pulmonary venous return, right atrium MPheno.ontology MP:0010443 total anomalous pulmonary venous connection, intracardiac MP:0010443 the pulmonary veins connect directly to the right side of heart (eg, coronary sinus or directly to the right atrium) instead of the left atrium http://emedicine.medscape.com the common pulmonary vein travels down anterior to the esophagus through the diaphragm to connect to the portal venous system instead of the left atrium csmith 2010-09-28T03:42:33Z TAPVC, Type 3 (infracardiac) TAPVC, infradiaphragmatic connection totally anomalous pulmonary venous return, infradiaphragmatic MPheno.ontology MP:0010444 total anomalous pulmonary venous connection, infracardiac MP:0010444 the common pulmonary vein travels down anterior to the esophagus through the diaphragm to connect to the portal venous system instead of the left atrium http://emedicine.medscape.com the right and left pulmonary veins drain to different sites other than the left atrium; for example, the left pulmonary veins into the left vertical vein to the left innominate, and/or the right pulmonary veins directly into the right atrium or coronary sinus csmith 2010-09-28T03:42:53Z Fyler:0950 Fyler:950 TAPVC, Type 4 (mixed) MPheno.ontology MP:0010445 total anomalous pulmonary venous connection, mixed MP:0010445 the right and left pulmonary veins drain to different sites other than the left atrium; for example, the left pulmonary veins into the left vertical vein to the left innominate, and/or the right pulmonary veins directly into the right atrium or coronary sinus http://emedicine.medscape.com decrease in the number of normal cells in normal arrangement in the heart left ventricle, typically resulting in decreased size csmith 2010-09-28T04:13:22Z Fyler:1811 LV hypoplasia hypoplastic LV hypoplastic heart left ventricle MPheno.ontology MP:0010446 heart left ventricle hypoplasia MP:0010446 decrease in the number of normal cells in normal arrangement in the heart left ventricle, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 thinning, stretching and bulging of a weakened heart left ventricular wall csmith 2010-09-28T04:14:22Z Fyler:2340 LV aneurysm MPheno.ontology MP:0010447 heart left ventricle aneurysm MP:0010447 thinning, stretching and bulging of a weakened heart left ventricular wall ISBN:0-683-40008-8 abnormal narrowing or constriction of the portion of the left ventricle through which blood normally flows into the aorta csmith 2010-09-28T04:20:54Z Fyler:1470 LVOTO aortic vestibule stenosis heart left ventricle outflow tract obstruction left ventricular outflow region stenosis outflow part of left ventricle stenosis outflow tract of left ventricle stenosis subaortic stenosis MPheno.ontology subvalvar stenosis MP:0010448 heart left ventricle outflow tract stenosis MP:0010448 abnormal narrowing or constriction of the portion of the left ventricle through which blood normally flows into the aorta https://orcid.org/0000-0003-3691-0324 abnormal narrowing or constriction of part of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk csmith 2010-09-28T04:21:35Z MP:0010518 Fyler:1639 RVOTO arterial cone stenosis conus arteriosus stenosis heart right ventricle outflow tract obstruction infundibular pulmonary stenosis infundibular pulmonic stenosis infundibulum of right ventricle stenosis infundibulum of the heart stenosis pulmonary cone stenosis pulmonary conus stenosis right ventricle pulmonary outflow tract stenosis subpulmonary stenosis subpulmonic stenosis MPheno.ontology right ventricle infundibulum stenosis MP:0010449 heart right ventricle outflow tract stenosis MP:0010449 abnormal narrowing or constriction of part of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 a saclike thinning, stretching and widening of the heart atrial septum resulting from weakening of the septum wall csmith 2010-09-29T09:36:46Z interatrial septum aneurysm MPheno.ontology MP:0010450 atrial septal aneurysm MP:0010450 a saclike thinning, stretching and widening of the heart atrial septum resulting from weakening of the septum wall ISBN:0-683-40008-8 focal dilation of arteriocapillary junctions in the kidney csmith 2010-09-29T09:39:41Z MPheno.ontology renal microaneurysms MP:0010451 kidney microaneurysm MP:0010451 focal dilation of arteriocapillary junctions in the kidney ISBN:0-683-40008-8 focal dilation of arteriocapillary junctions in the retina csmith 2010-09-29T09:41:51Z retinal microaneurysm MPheno.ontology MP:0010452 retina microaneurysm MP:0010452 focal dilation of arteriocapillary junctions in the retina ISBN:0-683-40008-8 any structural anomaly of any of the veins that return blood from the heart muscles to the right atrium through the coronary sinus csmith 2010-09-29T11:15:29Z MPheno.ontology MP:0010453 abnormal coronary vein morphology MP:0010453 any structural anomaly of any of the veins that return blood from the heart muscles to the right atrium through the coronary sinus https://orcid.org/0000-0003-3691-0324 anomaly in the process of dividing the common arterial trunk arising out of both heart ventricles to divide into the aorta and pulmonary artery during development csmith 2010-09-29T12:23:33Z MP:0005674 abnormal aortico-pulmonary septum formation abnormal common arterial trunk septation MPheno.ontology MP:0010454 abnormal truncus arteriosus septation MP:0010454 anomaly in the process of dividing the common arterial trunk arising out of both heart ventricles to divide into the aorta and pulmonary artery during development https://orcid.org/0000-0003-3691-0324 a defect between the great vessels that results from failure of the conotruncal ridges to fuse resulting in an abnormal communication between the aorta and the pulmonary arteries csmith 2010-09-29T01:11:11Z Fyler:0560 Fyler:560 aortico-pulmonary window aortopulmonary fistula MPheno.ontology AP window APW MP:0010455 aortopulmonary window MP:0010455 a defect between the great vessels that results from failure of the conotruncal ridges to fuse resulting in an abnormal communication between the aorta and the pulmonary arteries http://emedicine.medscape.com congenital heart defect in which the origin of a pulmonary artery, usually the right, arises from the ascending aorta instead of the pulmonary trunk with the aortic and pulmonary valves remaining separate csmith 2010-09-29T01:25:09Z Fyler:0550 Fyler:550 MPheno.ontology MP:0010456 hemitruncus MP:0010456 congenital heart defect in which the origin of a pulmonary artery, usually the right, arises from the ascending aorta instead of the pulmonary trunk with the aortic and pulmonary valves remaining separate ISBN:0-683-40008-8 abnormal narrowing or constriction of the pulmonary artery csmith 2010-09-29T02:28:28Z Fyler:1622 pulmonary arterial stenosis MPheno.ontology pulmonary stenosis MP:0010457 Do not confuse with pulmonary valve stenosis. pulmonary artery stenosis MP:0010457 abnormal narrowing or constriction of the pulmonary artery https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the pulmonary trunk, typically resulting in decreased size csmith 2010-09-29T02:36:52Z hypoplastic pulmonary trunk MPheno.ontology MP:0010458 pulmonary trunk hypoplasia MP:0010458 decrease in the number of normal cells in normal arrangement in the pulmonary trunk, typically resulting in decreased size ISBN:0-683-40008-8 diffuse constriction or narrowing of the pulmonary trunk distal to the pulmonary valve csmith 2010-09-29T02:41:37Z MPheno.ontology MP:0010459 supravalvar pulmonary trunk stenosis MP:0010459 diffuse constriction or narrowing of the pulmonary trunk distal to the pulmonary valve ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the pulmonary artery, typically resulting in decreased size csmith 2010-09-29T02:46:23Z Fyler:2966 hypoplastic main pulmonary artery pulmonary arterial hypoplasia MPheno.ontology MP:0010460 pulmonary artery hypoplasia MP:0010460 decrease in the number of normal cells in normal arrangement in the pulmonary artery, typically resulting in decreased size MESH:A07.231.114.715 one or more pulmonary arteries is disconnected from the main pulmonary trunk and arises from a patent ductus arteriosus csmith 2010-09-29T02:51:21Z discontinuous pulmonary arteries non-confluent pulmonary arteries pulmonary artery discontinuity MPheno.ontology MP:0010461 discontinuous pulmonary artery MP:0010461 one or more pulmonary arteries is disconnected from the main pulmonary trunk and arises from a patent ductus arteriosus PMID:15902835 a protruding sac formed by the dilation of the wall of a pulmonary artery resulting from a weakening of the vessel wall csmith 2010-09-29T02:55:24Z pulmonary arterial aneurysm MPheno.ontology MP:0010462 pulmonary artery aneurysm MP:0010462 a protruding sac formed by the dilation of the wall of a pulmonary artery resulting from a weakening of the vessel wall ISBN:0-683-40008-8 diffuse constriction or narrowing of the aorta csmith 2010-09-29T03:08:21Z MPheno.ontology aortic stenosis MP:0010463 Do not confuse with aortic valve stenosis. aorta stenosis MP:0010463 diffuse constriction or narrowing of the aorta https://orcid.org/0000-0003-3691-0324 any anomaly of the connection site of the aortic branches to the aortic arch, including the attachment sites for the left common carotid artery, the left subclavian artery, and the brachiocephalic trunk which further splits to form the right subclavian artery and the right common carotid artery csmith 2010-09-29T03:29:54Z Fyler:2705 aortic arch branch abnormality MPheno.ontology MP:0010464 abnormal aortic arch and aortic arch branch attachment MP:0010464 any anomaly of the connection site of the aortic branches to the aortic arch, including the attachment sites for the left common carotid artery, the left subclavian artery, and the brachiocephalic trunk which further splits to form the right subclavian artery and the right common carotid artery ISBN:0-683-40008-8 the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta csmith 2010-09-29T03:33:08Z abnormal right subclavian artery origin MPheno.ontology aberrant origin right subclavian artery MP:0010465 aberrant origin of the right subclavian artery MP:0010465 the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta https://orcid.org/0000-0003-3691-0324 the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches csmith 2010-09-29T03:44:33Z Fyler:2760 aortic vascular ring MPheno.ontology MP:0010466 vascular ring MP:0010466 the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches http://emedicine.medscape.com anomalous origin of the left pulmonary artery from the posterior aspect of the right pulmonary artery, with the anomalous left pulmonary artery coursing over the right mainstem bronchus and then from right to left, posterior to the trachea or carina and anterior to the esophagus, to reach the hilum of the left lung, which compresses the lower trachea and right mainstem bronchus csmith 2010-09-29T04:22:55Z pulmonary arterial sling MPheno.ontology MP:0010467 pulmonary artery sling MP:0010467 anomalous origin of the left pulmonary artery from the posterior aspect of the right pulmonary artery, with the anomalous left pulmonary artery coursing over the right mainstem bronchus and then from right to left, posterior to the trachea or carina and anterior to the esophagus, to reach the hilum of the left lung, which compresses the lower trachea and right mainstem bronchus http://emedicine.medscape.com any structural anomaly of the part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest csmith 2010-09-30T09:03:29Z MA:0002569 MPheno.ontology MP:0010468 abnormal thoracic aorta morphology MP:0010468 any structural anomaly of the part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest http://www.medterms.com decrease in the number of normal cells in normal arrangement in the ascending aorta, typically resulting in decreased size csmith 2010-09-30T09:27:38Z Fyler:2703 hypoplasia ascending aorta hypoplastic ascending aorta MPheno.ontology MP:0010469 ascending aorta hypoplasia MP:0010469 decrease in the number of normal cells in normal arrangement in the ascending aorta, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 the luminal space of the ascending aorta is increased in volume or area, usually with an increase of contained fluid csmith 2010-09-30T09:28:04Z Fyler:2701 ascending aorta dilation dilated ascending aortae dilated ascending aortas MPheno.ontology MP:0010470 dilated ascending aorta MP:0010470 the luminal space of the ascending aorta is increased in volume or area, usually with an increase of contained fluid https://orcid.org/0000-0003-3691-0324 a narrowing, diffuse constriction or obstruction of the ascending aorta located just distal to the aortic valve at the aortic root csmith 2010-09-30T09:28:48Z Fyler:1430 Aortic stenosis - supravalvar ascending aorta stenosis supravalvar stenosis supravalvular aortic stenosis MPheno.ontology MP:0010471 supravalvar aortic stenosis MP:0010471 a narrowing, diffuse constriction or obstruction of the ascending aorta located just distal to the aortic valve at the aortic root https://orcid.org/0000-0003-3691-0324 any anomaly of the connection site of any or all of the coronary arteries to the ascending aorta csmith 2010-09-30T09:34:42Z MPheno.ontology MP:0010472 abnormal ascending aorta and coronary artery attachment MP:0010472 any anomaly of the connection site of any or all of the coronary arteries to the ascending aorta https://orcid.org/0000-0003-3691-0324 widening or enlargment of the lumen of the descending aorta csmith 2010-09-30T09:40:28Z Fyler:2754 MPheno.ontology MP:0010473 descending aorta dilation MP:0010473 widening or enlargment of the lumen of the descending aorta https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the descending aorta, typically resulting in decreased size csmith 2010-09-30T09:41:41Z Fyler:2753 hypoplastic descending aorta MPheno.ontology MP:0010474 descending aorta hypoplasia MP:0010474 decrease in the number of normal cells in normal arrangement in the descending aorta, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 the left coronary artery arises from the pulmonary artery insead of the aorta csmith 2010-09-30T09:45:02Z Fyler:3101 ALCAPA ALCPA MPheno.ontology MP:0010475 "anomalous" was used in the term name instead of "abnormal" due to common usage of this term among cardiologists. anomalous pulmonary origin of left coronary artery MP:0010475 the left coronary artery arises from the pulmonary artery insead of the aorta PMID:12238882 https://orcid.org/0000-0003-3691-0324 an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering either a chamber of the heart (coronary-cameral fistula) or any segment of the systemic or pulmonary circulation (coronary arteriovenous fistula) csmith 2010-09-30T09:52:34Z Fyler:2230 coronary artery fistula MPheno.ontology MP:0010476 coronary fistula MP:0010476 an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering either a chamber of the heart (coronary-cameral fistula) or any segment of the systemic or pulmonary circulation (coronary arteriovenous fistula) http://emedicine.medscape.com a protruding sac formed by the dilation of the wall of a coronary artery resulting from a weakening of the vessel wall csmith 2010-09-30T09:57:14Z Fyler:3129 coronary arterial aneurysm MPheno.ontology MP:0010477 coronary artery aneurysm MP:0010477 a protruding sac formed by the dilation of the wall of a coronary artery resulting from a weakening of the vessel wall https://orcid.org/0000-0003-3691-0324 a protruding sac within the cranial space formed by the dilation of the wall of an artery or a vein resulting from a weakening of the vessel wall csmith 2010-09-30T10:04:22Z MPheno.ontology MP:0010478 intracranial aneurysm MP:0010478 a protruding sac within the cranial space formed by the dilation of the wall of an artery or a vein resulting from a weakening of the vessel wall ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 a protruding sac within the brain formed by the dilation of the wall of an artery or a vein resulting from a weakening of the vessel wall csmith 2010-09-30T10:04:31Z MPheno.ontology MP:0010479 brain aneurysm MP:0010479 a protruding sac within the brain formed by the dilation of the wall of an artery or a vein resulting from a weakening of the vessel wall ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 abnormal communications between the pulmonary arteries and the pulmonary veins, or between a bronchial artery and the pulmonary vein csmith 2010-09-30T10:40:06Z Fyler:2210 PAVM pulmonary arteriovenous fistula MPheno.ontology MP:0010480 pulmonary arteriovenous malformation MP:0010480 abnormal communications between the pulmonary arteries and the pulmonary veins, or between a bronchial artery and the pulmonary vein http://emedicine.medscape.com an abnormal communication between the left ventricle and the ascending aorta in addition to the aortic valve csmith 2010-09-30T10:46:56Z Fyler:1460 LV to aorta tunnel aortic-left ventricular tunnel aorto-LV tunnel left ventricle to aorta tunnel left ventricular aortic tunnel MPheno.ontology MP:0010481 heart left ventricle to aorta tunnel MP:0010481 an abnormal communication between the left ventricle and the ascending aorta in addition to the aortic valve https://orcid.org/0000-0003-3691-0324 any structural anomaly of the spaces betwen the superior aspect of each of the three cusps of the aortic valve and the dilated portion of the wall of the ascending aorta, immediately above each cusp; the three sinuses include the posterior (non-coronary sinus), and the right and left aortic sinuses (from which the left and right coronary arteries arise) csmith 2010-09-30T10:52:58Z abnormal Petit sinus morphology abnormal Valsalva sinus morphology abnormal sinus of Valsalva morphology MPheno.ontology MP:0010482 abnormal aortic sinus morphology MP:0010482 any structural anomaly of the spaces betwen the superior aspect of each of the three cusps of the aortic valve and the dilated portion of the wall of the ascending aorta, immediately above each cusp; the three sinuses include the posterior (non-coronary sinus), and the right and left aortic sinuses (from which the left and right coronary arteries arise) ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 a protruding sac formed by the dilation of the wall of the aortic sinus resulting from a weakening of the vessel wall csmith 2010-09-30T11:07:45Z Fyler:2316 Petit sinus aneurysm Valsalva sinus aneurysm aortic sinus of Valsalva aneurysm sinus of Valsalva aneurysm MPheno.ontology MP:0010483 aortic sinus aneurysm MP:0010483 a protruding sac formed by the dilation of the wall of the aortic sinus resulting from a weakening of the vessel wall ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 the presence of two cusps in the aortic valve instead of three csmith 2010-09-30T11:19:01Z BAV MPheno.ontology MP:0010484 bicuspid aortic valve MP:0010484 the presence of two cusps in the aortic valve instead of three http://emedicine.medscape.com decrease in the number of normal cells in normal arrangement in the aortic arch, typically resulting in decreased size csmith 2010-09-30T11:22:31Z Fyler:2704 hypoplastic aortic arch MPheno.ontology MP:0010485 aortic arch hypoplasia MP:0010485 decrease in the number of normal cells in normal arrangement in the aortic arch, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 absence of one of the two subclavian arteries; the right subclavian artery normally extends from the brachiocephalic artery to the right side of the body csmith 2010-09-30T11:55:35Z MPheno.ontology MP:0010486 absent right subclavian artery MP:0010486 absence of one of the two subclavian arteries; the right subclavian artery normally extends from the brachiocephalic artery to the right side of the body https://orcid.org/0000-0003-3691-0324 any structural anomaly of the artery that normally extends from the brachiocephalic artery to the right side of the body csmith 2010-09-30T11:56:57Z abnormal RSA morphology MPheno.ontology MP:0010487 abnormal right subclavian artery morphology MP:0010487 any structural anomaly of the artery that normally extends from the brachiocephalic artery to the right side of the body https://orcid.org/0000-0003-3691-0324 any structural anomaly of the artery that extends from the aortic arch to the left side of the body csmith 2010-09-30T11:57:31Z abnormal LSCA morphology MPheno.ontology MP:0010488 abnormal left subclavian artery morphology MP:0010488 any structural anomaly of the artery that extends from the aortic arch to the left side of the body https://orcid.org/0000-0003-3691-0324 any structural anomaly of the small conical pouch projections located on the upper anterior portion of each atrium of the heart csmith 2010-09-30T12:20:12Z abnormal atrial appendage morphology abnormal atrial auricles abnormal auricle of atria morphology abnormal auricular appendix MPheno.ontology MP:0010489 abnormal heart atrium auricular region morphology MP:0010489 any structural anomaly of the small conical pouch projections located on the upper anterior portion of each atrium of the heart ISBN:0-683-40008-8 any structural anomaly of the semicircular fold of endocardium located on the right atrium at the point of attachment of the inferior vena cava csmith 2010-09-30T12:54:02Z abnormal Eustachian valve morphology abnormal sylvian valve morphology MPheno.ontology MP:0010490 abnormal inferior vena cava valve morphology MP:0010490 any structural anomaly of the semicircular fold of endocardium located on the right atrium at the point of attachment of the inferior vena cava ISBN:0-683-40008-8 any structural anomaly of the semicircular fold of the right atrial endocardium located at the coronary sinus attachment to the right atrium that serves to prevent the reflux of blood back to the coronary arteries during atrial contraction csmith 2010-09-30T12:54:34Z abnormal Thebesian valve morphology abnormal coronary valve morphology MPheno.ontology MP:0010491 abnormal coronary sinus valve morphology MP:0010491 any structural anomaly of the semicircular fold of the right atrial endocardium located at the coronary sinus attachment to the right atrium that serves to prevent the reflux of blood back to the coronary arteries during atrial contraction ISBN:0-683-40008-8 any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the atria csmith 2010-09-30T12:33:34Z abnormal atrial endocardium MPheno.ontology MP:0010492 abnormal atrium endocardium morphology MP:0010492 any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the atria MESH:A07.541.207 any structural anomaly of the atrial part of middle layer of the heart, comprised of involuntary muscle csmith 2010-09-30T12:34:03Z abnormal atrial myocardium morphology MPheno.ontology MP:0010493 abnormal atrium myocardium morphology MP:0010493 any structural anomaly of the atrial part of middle layer of the heart, comprised of involuntary muscle ISBN:0-683-40008-8 any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the ventricles csmith 2010-09-30T12:39:53Z abnormal ventricular endocardium morphology MPheno.ontology MP:0010494 abnormal ventricle endocardium morphology MP:0010494 any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the ventricles MESH:A07.541.207 any structural anomaly of the vertical crest of the interior wall of the right atrium that lies to the right of the sinus of the vena cava and separates this from the remainder of the right atrium csmith 2010-09-30T01:15:45Z MPheno.ontology MP:0010495 abnormal crista terminalis morphology MP:0010495 any structural anomaly of the vertical crest of the interior wall of the right atrium that lies to the right of the sinus of the vena cava and separates this from the remainder of the right atrium ISBN:0-683-40008-8 any structural anomaly of the prominent ridges of atrial myocardium located on the inner surface of most of the right atrium and both the right and left auricular regions csmith 2010-09-30T01:16:19Z abnormal pectinate fibers MPheno.ontology MP:0010496 abnormal pectinate muscle morphology MP:0010496 any structural anomaly of the prominent ridges of atrial myocardium located on the inner surface of most of the right atrium and both the right and left auricular regions ISBN:0-683-40008-8 any structural anomaly of the portion of the cavity of the right atrium of the heart that receives the blood from the vena cavae and is separated from the rest of the atrium by the crista terminalis csmith 2010-09-30T01:19:16Z abnormal sinus of the vena cava MPheno.ontology MP:0010497 abnormal vena cava sinus morphology MP:0010497 any structural anomaly of the portion of the cavity of the right atrium of the heart that receives the blood from the vena cavae and is separated from the rest of the atrium by the crista terminalis ISBN:0-683-40008-8 any structural anomaly of the muscular portion of the wall between the two lower chambers of the heart csmith 2010-09-30T01:36:30Z abnormal muscular interventricular septum morphology MPheno.ontology MP:0010498 abnormal interventricular septum muscular part morphology MP:0010498 any structural anomaly of the muscular portion of the wall between the two lower chambers of the heart https://orcid.org/0000-0003-3691-0324 any structural anomaly of the ventricular part of middle layer of the heart, comprised of involuntary muscle csmith 2010-09-30T01:40:18Z abormal ventricular myocardium morphology MPheno.ontology MP:0010499 abnormal ventricle myocardium morphology MP:0010499 any structural anomaly of the ventricular part of middle layer of the heart, comprised of involuntary muscle ISBN:0-683-40008-8 decrease in the number of normal cells in normal arrangement in the heart myocardium, typically resulting in decreased size csmith 2010-09-30T03:49:07Z hypoplastic myocardium myocardial hypoplasia MPheno.ontology MP:0010500 myocardium hypoplasia MP:0010500 decrease in the number of normal cells in normal arrangement in the heart myocardium, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the atrial myocardium, typically resulting in decreased size csmith 2010-09-30T03:49:21Z atrial myocardium hypoplasia hypoplastic atrial myocardium MPheno.ontology MP:0010501 atrium myocardium hypoplasia MP:0010501 decrease in the number of normal cells in normal arrangement in the atrial myocardium, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the ventricle myocardium, typically resulting in decreased size csmith 2010-09-30T03:49:55Z ventricular myocardium hypoplasia MPheno.ontology MP:0010502 ventricle myocardium hypoplasia MP:0010502 decrease in the number of normal cells in normal arrangement in the ventricle myocardium, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the myocardial trabeculae, typically resulting in decreased size csmith 2010-09-30T04:04:08Z hypoplastic myocardial trabeculae myocardium trabeculae hypoplasia MPheno.ontology MP:0010503 myocardial trabeculae hypoplasia MP:0010503 decrease in the number of normal cells in normal arrangement in the myocardial trabeculae, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 anomaly in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate csmith 2010-09-30T04:10:08Z MPheno.ontology MP:0010504 abnormal RR interval MP:0010504 anomaly in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate https://orcid.org/0000-0003-3691-0324 any anomaly in the T wave which is normally caused by the repolarization (or recovery) of the ventricles csmith 2010-09-30T04:12:12Z MPheno.ontology MP:0010505 abnormal T wave MP:0010505 any anomaly in the T wave which is normally caused by the repolarization (or recovery) of the ventricles https://orcid.org/0000-0003-3691-0324 increase in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate csmith 2010-09-30T04:14:41Z increased RR interval widened RR interval MPheno.ontology MP:0010506 prolonged RR interval MP:0010506 increase in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate https://orcid.org/0000-0003-3691-0324 reduction in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate csmith 2010-09-30T04:15:01Z decreased RR interval reduced RR interval MPheno.ontology MP:0010507 shortened RR interval MP:0010507 reduction in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate https://orcid.org/0000-0003-3691-0324 any anomaly in the pattern of the graphic record of the integrated action currents of the cardiac cycle represented as changes in voltage; the prominent waves in the ECG correspond to specific conduction activity in areas of the heart and the timing and amplitude of ECG waveforms provide valuable information about heart rate and rhythm csmith 2010-09-30T04:16:30Z abnormal ECG abnormal EKG abnormal cardiac electrocardiography MPheno.ontology abnormal heart ECG waveform features MP:0010508 abnormal heart electrocardiography waveform feature MP:0010508 any anomaly in the pattern of the graphic record of the integrated action currents of the cardiac cycle represented as changes in voltage; the prominent waves in the ECG correspond to specific conduction activity in areas of the heart and the timing and amplitude of ECG waveforms provide valuable information about heart rate and rhythm PMID:20410536 https://orcid.org/0000-0003-3691-0324 reduction in the size (height or maximum displacement) of the P wave csmith 2010-10-01T09:28:25Z reduced P wave amplitude MPheno.ontology MP:0010509 decreased P wave amplitude MP:0010509 reduction in the size (height or maximum displacement) of the P wave https://orcid.org/0000-0003-3691-0324 absence of the P wave which represents atrial depolarization and corresponds to electrical impulses rather than mechanical atria contractions csmith 2010-10-01T09:32:59Z MPheno.ontology MP:0010510 absent P wave MP:0010510 absence of the P wave which represents atrial depolarization and corresponds to electrical impulses rather than mechanical atria contractions https://orcid.org/0000-0003-3691-0324 decrease in the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex csmith 2010-10-01T09:40:04Z decreased PR interval reduced PR interval MPheno.ontology MP:0010511 shortened PR interval MP:0010511 decrease in the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex https://orcid.org/0000-0003-3691-0324 absence of the ECG segment representing the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex csmith 2010-10-01T09:44:16Z MPheno.ontology MP:0010512 absent PR interval MP:0010512 absence of the ECG segment representing the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex https://orcid.org/0000-0003-3691-0324 any anomaly in the length of time from the beginning of the Q wave to the peak of the R wave csmith 2010-10-01T10:02:20Z abnormal VAT MPheno.ontology MP:0010513 abnormal ventricular activation time MP:0010513 any anomaly in the length of time from the beginning of the Q wave to the peak of the R wave https://orcid.org/0000-0003-3691-0324 changes in QRS waveform pattern including different RSR' patterns, additional R waves, notched or absent Q or S wave, or more than one R wave csmith 2010-10-01T10:08:55Z QRS complex fragmentation fQRS MPheno.ontology MP:0010514 fragmented QRS complex MP:0010514 changes in QRS waveform pattern including different RSR' patterns, additional R waves, notched or absent Q or S wave, or more than one R wave PMID:20186984 any anomaly in the downward deflection in the ECG occurring after the PR interval that represents depolarization of the interventricular septum csmith 2010-10-01T10:18:32Z abnormal septal Q wave MPheno.ontology MP:0010515 abnormal Q wave MP:0010515 any anomaly in the downward deflection in the ECG occurring after the PR interval that represents depolarization of the interventricular septum PMID:16939833 absence of the downward deflection in the ECG occurring after the PR interval that represents depolarization of the interventricular septum csmith 2010-10-01T10:20:55Z MPheno.ontology MP:0010516 absent Q wave MP:0010516 absence of the downward deflection in the ECG occurring after the PR interval that represents depolarization of the interventricular septum PMID:16939833 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the impulse conduction tract that originates in the sinoatrial node and transmits signal to the left atrium csmith 2010-10-01T10:36:16Z abnormal anterior interatrial band morphology abnormal anterior internodal tract morphology MPheno.ontology MP:0010517 According to Stedman's Medical Dictionary, the anatomic reality of this structure has been disputed. abnormal Bachmann's bundle morphology MP:0010517 any structural anomaly of the impulse conduction tract that originates in the sinoatrial node and transmits signal to the left atrium https://orcid.org/0000-0003-3691-0324 true MP:0010518 a partial or complete obstruction of the impulse that originates in the atria or sinoatrial node from reaching or transmitting through the atrioventricular node to the ventricles csmith 2010-10-01T12:06:10Z AV block MPheno.ontology MP:0010519 atrioventricular block MP:0010519 a partial or complete obstruction of the impulse that originates in the atria or sinoatrial node from reaching or transmitting through the atrioventricular node to the ventricles ISBN:0-683-40008-8 a partial or complete obstruction of the impulse leaving the sinoatrial node preventing it from activating atrial muscle csmith 2010-10-01T12:07:27Z Fyler:7014 S-A block SA block sinauricular block sinuatrial block MPheno.ontology sinus block MP:0010520 sinoatrial block MP:0010520 a partial or complete obstruction of the impulse leaving the sinoatrial node preventing it from activating atrial muscle ISBN:0-683-40008-8 absence of the artery that arises from the right ventricle and conveys unaerated blood to the lungs 2010-10-01T12:21:39Z pulmonary artery atresia MPheno.ontology MP:0010521 absent pulmonary artery MP:0010521 absence of the artery that arises from the right ventricle and conveys unaerated blood to the lungs MESH:A07.231.114.715 pathologic deposition of calcium salts in the aorta csmith 2010-10-01T12:23:16Z aorta calcification aortic calcification MPheno.ontology MP:0010522 calcified aorta MP:0010522 pathologic deposition of calcium salts in the aorta https://orcid.org/0000-0003-3691-0324 pathologic deposition of calcium salts in the part of the aorta that extends from the origin at the heart to the diaphragm csmith 2010-10-01T12:27:30Z thoracic aorta calcification MPheno.ontology MP:0010523 calcified thoracic aorta MP:0010523 pathologic deposition of calcium salts in the part of the aorta that extends from the origin at the heart to the diaphragm https://orcid.org/0000-0003-3691-0324 pathologic deposition of calcium salts in the convex portion of the aorta between the ascending and descending parts of the aorta csmith 2010-10-01T12:29:32Z aortic arch calcification MPheno.ontology MP:0010524 calcified aortic arch MP:0010524 pathologic deposition of calcium salts in the convex portion of the aorta between the ascending and descending parts of the aorta https://orcid.org/0000-0003-3691-0324 a congenital focal constriction of the abdominal aorta csmith 2010-10-01T12:35:46Z coarctation of abdominal aorta MPheno.ontology MP:0010525 abdominal aorta coarctation MP:0010525 a congenital focal constriction of the abdominal aorta https://orcid.org/0000-0003-3691-0324 a congenital focal constriction of the aortic arch csmith 2010-10-01T12:40:37Z MPheno.ontology MP:0010526 aortic arch coarctation MP:0010526 a congenital focal constriction of the aortic arch https://orcid.org/0000-0003-3691-0324 the presence of two cusps or leaflets in the pulmonary valve instead of three csmith 2010-10-01T12:53:18Z Fyler:1601 bicuspid pulmonic valve MPheno.ontology MP:0010527 bicuspid pulmonary valve MP:0010527 the presence of two cusps or leaflets in the pulmonary valve instead of three https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the pulmonary vein, typically resulting in decreased size csmith 2010-10-01T02:07:18Z hypoplastic pulmonary vein MPheno.ontology MP:0010528 pulmonary vein hypoplasia MP:0010528 decrease in the number of normal cells in normal arrangement in the pulmonary vein, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 congenital vascular anomaly in the liver characterized by direct communication between an artery and a vein without passing through the capillary bed csmith 2010-10-01T02:28:56Z hepatic arteriovenous fistula liver arteriovenous malformation MPheno.ontology liver arteriovenous fisutla MP:0010529 hepatic arteriovenous malformation MP:0010529 congenital vascular anomaly in the liver characterized by direct communication between an artery and a vein without passing through the capillary bed https://orcid.org/0000-0003-3691-0324 congenital vascular anomaly in the cerebrum characterized by direct communication between an artery and a vein without passing through the capillary bed csmith 2010-10-01T02:29:30Z Fyler:2201 cerebral arteriovenous fistula MPheno.ontology MP:0010530 cerebral arteriovenous malformation MP:0010530 congenital vascular anomaly in the cerebrum characterized by direct communication between an artery and a vein without passing through the capillary bed https://orcid.org/0000-0003-3691-0324 congenital vascular anomaly in the gastrointestinal system characterized by direct communication between an artery and a vein without passing through the capillary bed csmith 2010-10-01T02:30:40Z MPheno.ontology MP:0010531 gastrointestinal arteriovenous malformation MP:0010531 congenital vascular anomaly in the gastrointestinal system characterized by direct communication between an artery and a vein without passing through the capillary bed https://orcid.org/0000-0003-3691-0324 absence of the small nodular mass of specialized muscle fibers located in the interatrial septum near the opening of the coronary sinus csmith 2010-10-01T02:39:18Z absent A-V node absent AV node absent atrio-ventricular node MPheno.ontology MP:0010532 absent atrioventricular node MP:0010532 absence of the small nodular mass of specialized muscle fibers located in the interatrial septum near the opening of the coronary sinus MESH:A07.541.409.147 decrease in the number of normal cells in normal arrangement in the atrioventricular node, typically resulting in decreased size csmith 2010-10-01T02:39:42Z hypoplastic atrioventricular node MPheno.ontology MP:0010533 atrioventricular node hypoplasia MP:0010533 decrease in the number of normal cells in normal arrangement in the atrioventricular node, typically resulting in decreased size MESH:A07.541.409.147 pathologic deposition of calcium salts in the myocardium csmith 2010-10-01T02:42:43Z Fyler:1889 MPheno.ontology myocardial calcification MP:0010534 calcified myocardium MP:0010534 pathologic deposition of calcium salts in the myocardium https://orcid.org/0000-0003-3691-0324 an accumulation of fat deposits in the myocardium csmith 2010-10-01T02:44:57Z myocardial steatosis MPheno.ontology MP:0010535 myocardium steatosis MP:0010535 an accumulation of fat deposits in the myocardium https://orcid.org/0000-0003-3691-0324 a congenital downward displacement of the septal and posterior leaflets of the tricuspid valve into the inlet portion of the right ventricle csmith 2010-10-01T02:51:23Z Ebstein disease Ebstein's anomaly Ebstein's anomaly of the right AV valve Ebstein's anomaly of the right atrioventricular valve Ebstein's anomaly of the tricuspid valve MPheno.ontology MP:0010536 Ebstein's malformation of tricuspid valve MP:0010536 a congenital downward displacement of the septal and posterior leaflets of the tricuspid valve into the inlet portion of the right ventricle ISBN:0-683-40008-8 http://emedicine.medscape.com a decrease in tumor size from a formerly larger state and/or a decrease in the extent of tumors in the body csmith 2010-10-01T03:25:26Z tumour regression MPheno.ontology MP:0010537 tumor regression MP:0010537 a decrease in tumor size from a formerly larger state and/or a decrease in the extent of tumors in the body https://orcid.org/0000-0003-0431-8641 increase in the concentration of major histocompatibility complex class II molecules expressed at the cell surface csmith 2010-10-01T03:29:41Z MPheno.ontology MP:0010538 increased level of surface class II molecules MP:0010538 increase in the concentration of major histocompatibility complex class II molecules expressed at the cell surface https://orcid.org/0000-0001-5013-1234 reduction in the concentration of major histocompatibility complex class II molecules expressed at the cell surface csmith 2010-10-01T03:30:09Z reduced level of surface class II molecules MPheno.ontology MP:0010539 decreased level of surface class II molecules MP:0010539 reduction in the concentration of major histocompatibility complex class II molecules expressed at the cell surface https://orcid.org/0000-0001-5013-1234 increased average distance between steps csmith 2010-10-01T03:44:04Z increased stride length large stride length MPheno.ontology MP:0010540 long stride length MP:0010540 increased average distance between steps https://orcid.org/0000-0003-4606-0597 decrease in the number of normal cells in normal arrangement in the aorta, typically resulting in decreased size csmith 2010-10-04T09:09:24Z aortic hypoplasia hypoplastic aorta MPheno.ontology MP:0010541 aorta hypoplasia MP:0010541 decrease in the number of normal cells in normal arrangement in the aorta, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the right ventricular myocardium, typically resulting in decreased size csmith 2010-10-04T09:14:52Z right ventricular hypoplasia hypoplastic right ventricular myocardium parchment heart MPheno.ontology MP:0010542 right ventricular myocardium hypoplasia MP:0010542 decrease in the number of normal cells in normal arrangement in the right ventricular myocardium, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 a diffuse narrowing of the lumen of the aorta csmith 2010-10-04T09:28:50Z aortic tubular hypoplasia narrow aorta lumen narrow aortic lumen MPheno.ontology MP:0010543 Hypoplasia in the term name is not necessarily consistent with usage in the rest of the ontology (underdevelopment vs narrowing of the lumen), but this is the term name used by cardiologists. aorta tubular hypoplasia MP:0010543 a diffuse narrowing of the lumen of the aorta https://orcid.org/0000-0003-3691-0324 complete discontinuation or blockage in the aorta csmith 2010-10-04T09:35:33Z MPheno.ontology MP:0010544 interrupted aorta MP:0010544 complete discontinuation or blockage in the aorta https://orcid.org/0000-0003-3691-0324 any structural anomaly of the laminar structure of the heart csmith 2010-10-04T09:53:37Z abnormal cardiac layer morphology MPheno.ontology abnormal heart wall morphology MP:0010545 abnormal heart layer morphology MP:0010545 any structural anomaly of the laminar structure of the heart https://orcid.org/0000-0003-3691-0324 any structural anomaly of the layer of loose fibrous tissue located between the endocardium and myocardium which contains the nerves and the impulse-conducting system (Purkinje fibers) of the heart csmith 2010-10-04T09:54:44Z abnormal subendocardial layer morphology MPheno.ontology MP:0010546 abnormal subendocardium layer morphology MP:0010546 any structural anomaly of the layer of loose fibrous tissue located between the endocardium and myocardium which contains the nerves and the impulse-conducting system (Purkinje fibers) of the heart ISBN:0-683-40008-8 any structural anomaly of the layer of splanchnic mesoderm supporting the embryonic heart in the pericardial cavity; mesocardium normally regresses before birth csmith 2010-10-04T10:07:54Z MPheno.ontology MP:0010547 abnormal mesocardium morphology MP:0010547 any structural anomaly of the layer of splanchnic mesoderm supporting the embryonic heart in the pericardial cavity; mesocardium normally regresses before birth ISBN:0-683-40008-8 any structural anomaly of the part of the mesocardium that lies dorsal to the embryonic heart; the dorsal mesocardium gives rise to the transverse sinus of the pericardium in the adult csmith 2010-10-04T10:08:09Z MPheno.ontology MP:0010548 abnormal dorsal mesocardium morphology MP:0010548 any structural anomaly of the part of the mesocardium that lies dorsal to the embryonic heart; the dorsal mesocardium gives rise to the transverse sinus of the pericardium in the adult ISBN:0-683-40008-8 absence of the part of the mesocardium that lies dorsal to the embryonic heart; the dorsal mesocardium gives rise to the transverse sinus of the pericardium in the adult csmith 2010-10-04T10:08:24Z MPheno.ontology MP:0010549 absent dorsal mesocardium MP:0010549 absence of the part of the mesocardium that lies dorsal to the embryonic heart; the dorsal mesocardium gives rise to the transverse sinus of the pericardium in the adult ISBN:0-683-40008-8 true MP:0010550 any structural anomaly of any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation csmith 2010-10-04T01:15:24Z abnormal coronary vasculature MPheno.ontology abnormal heart blood vessel morphology MP:0010551 abnormal coronary vessel morphology MP:0010551 any structural anomaly of any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation https://orcid.org/0000-0003-3691-0324 any anomaly in the time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity csmith 2010-10-04T01:22:27Z abnormal H-V interval MPheno.ontology MP:0010552 abnormal HV interval MP:0010552 any anomaly in the time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity ISBN:0-683-40008-8 increase in the length of time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity csmith 2010-10-04T01:24:29Z prolonged H-V interval MPheno.ontology MP:0010553 prolonged HV interval MP:0010553 increase in the length of time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity ISBN:0-683-40008-8 decrease in the length of time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity csmith 2010-10-04T01:24:49Z decreased HV interval reduced HV interval shortened H-V interval MPheno.ontology MP:0010554 shortened HV interval MP:0010554 decrease in the length of time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity ISBN:0-683-40008-8 absence of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart csmith 2010-10-04T01:35:36Z absent lamina visceralis pericardii absent visceral layer of serous pericardium absent visceral serous pericardium MPheno.ontology MP:0010555 absent epicardium MP:0010555 absence of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart ISBN:0-683-40008-8 reduced thickness of the ventricular portion of the outer, dense layer of the myocardium csmith 2010-10-04T01:39:09Z thin ventricle myocardium compact zone thin ventricular myocardial compact layer thin ventricular myocardial compact zone MPheno.ontology MP:0010556 thin ventricle myocardium compact layer MP:0010556 reduced thickness of the ventricular portion of the outer, dense layer of the myocardium https://orcid.org/0000-0003-3691-0324 the luminal space of the pulmonary artery is increased in volume or area, usually with an increase of contained fluid csmith 2010-10-04T01:50:53Z dilated pulmonary arteries pulmonary artery dilation MPheno.ontology MP:0010557 dilated pulmonary artery MP:0010557 the luminal space of the pulmonary artery is increased in volume or area, usually with an increase of contained fluid https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the sinus venosus, typically resulting in decreased size csmith 2010-10-04T01:54:25Z hypoplastic sinus venosus MPheno.ontology MP:0010558 sinus venosus hypoplasia MP:0010558 decrease in the number of normal cells in normal arrangement in the sinus venosus, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 a partial or complete obstruction of the propogation of electric impulses through the impulse conduction system of the heart csmith 2010-10-04T02:01:21Z cardiac block cardiac conduction block MPheno.ontology MP:0010559 heart block MP:0010559 a partial or complete obstruction of the propogation of electric impulses through the impulse conduction system of the heart https://orcid.org/0000-0003-3691-0324 absent or delayed conduction within the ventricular conducting system or in the ventricular myocardium csmith 2010-10-04T02:03:24Z IVB MPheno.ontology MP:0010560 intraventricular block MP:0010560 absent or delayed conduction within the ventricular conducting system or in the ventricular myocardium ISBN:0-683-40008-8 absence of the arteries and veins that supply blood to the heart or return blood from the heart muscles to the circulation csmith 2010-10-04T02:15:21Z MPheno.ontology MP:0010561 absent coronary vessels MP:0010561 absence of the arteries and veins that supply blood to the heart or return blood from the heart muscles to the circulation https://orcid.org/0000-0003-3691-0324 absence of the cavity at the caudal end of the embryonic cardiac tube in which the veins from the intra- and extraembryonic circulatory arcs unite csmith 2010-10-04T02:32:55Z MPheno.ontology MP:0010562 absent sinus venosus MP:0010562 absence of the cavity at the caudal end of the embryonic cardiac tube in which the veins from the intra- and extraembryonic circulatory arcs unite https://orcid.org/0000-0003-3691-0324 greater than average size of the right ventricle csmith 2010-10-04T02:44:37Z MP:0008773 enlarged heart right ventricle MPheno.ontology MP:0010563 increased heart right ventricle size MP:0010563 greater than average size of the right ventricle https://orcid.org/0000-0003-3691-0324 any structural anomaly of the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth csmith 2010-10-04T03:38:44Z abnormal Botallo duct morphology abnormal arterial canal morphology abnormal arterial duct morphology abnormal ductus Botallo morphology abnormal foetal ductus arteriosus morphology MPheno.ontology MP:0010564 abnormal fetal ductus arteriosus morphology MP:0010564 any structural anomaly of the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth ISBN:0-683-40008-8 absence of the fetal vessel that connects the left pulmonary artery with the descending aorta csmith 2010-10-04T03:39:09Z absent Botallo duct absent arterial canal absent arterial duct absent ductus Botallo absent foetal ductus arteriosus MPheno.ontology MP:0010565 absent fetal ductus arteriosus MP:0010565 absence of the fetal vessel that connects the left pulmonary artery with the descending aorta ISBN:0-683-40008-8 any structural anomaly of the left branch of the atrioventricular bundle that separates at the bundle of His, descends the septal wall of the left ventricle and connects to the terminal Purkinje fiber csmith 2010-10-04T04:02:04Z abnormal left bundle of atrioventricular bundle abnormal left crus of atrioventricular bundle abnormal left ventricular bundle branch morphology MPheno.ontology MP:0010566 abnormal left posterior bundle morphology MP:0010566 any structural anomaly of the left branch of the atrioventricular bundle that separates at the bundle of His, descends the septal wall of the left ventricle and connects to the terminal Purkinje fiber ISBN:0-683-40008-8 any structural anomaly of the right branch of the atrioventricular bundle that separates just below the bundle of His, descends the septal wall of the right ventricle and connects to the terminal Purkinje fibers csmith 2010-10-04T04:02:30Z abnormal right bundle of atrioventricular bundle abnormal right crus of atrioventricular bundle abnormal right ventricular bundle morphology MPheno.ontology MP:0010567 abnormal right bundle morphology MP:0010567 any structural anomaly of the right branch of the atrioventricular bundle that separates just below the bundle of His, descends the septal wall of the right ventricle and connects to the terminal Purkinje fibers ISBN:0-683-40008-8 any structural anomaly of a transient fetal dilation of the distal (or cranial) heart tube located where the arterial trunk joins the ventral roots of the aortic arches csmith 2010-10-04T04:15:12Z MPheno.ontology MP:0010568 abnormal bulbus cordis morphology MP:0010568 any structural anomaly of a transient fetal dilation of the distal (or cranial) heart tube located where the arterial trunk joins the ventral roots of the aortic arches ISBN:0-683-40008-8 increased bulk size of any of the ventricular papillary muscles due to cell enlargement csmith 2010-10-05T09:59:00Z hypertrophic papillary muscle MPheno.ontology MP:0010569 papillary muscle hypertrophy MP:0010569 increased bulk size of any of the ventricular papillary muscles due to cell enlargement https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 increase in the length of time between the end of S-wave and the beginning of T-wave; reflects the amount of time the ventricles remain electrically depolarized csmith 2010-10-05T10:06:28Z MPheno.ontology MP:0010570 prolonged ST segment MP:0010570 increase in the length of time between the end of S-wave and the beginning of T-wave; reflects the amount of time the ventricles remain electrically depolarized https://orcid.org/0009-0005-7755-8314 reduction in the length of time between the end of S-wave and the beginning of T-wave; reflects the amount of time the ventricles remain electrically depolarized csmith 2010-10-05T10:07:13Z decreased ST segment reduced ST segment MPheno.ontology MP:0010571 shortened ST segment MP:0010571 reduction in the length of time between the end of S-wave and the beginning of T-wave; reflects the amount of time the ventricles remain electrically depolarized https://orcid.org/0009-0005-7755-8314 persistence of the right dorsal aorta after development; the right dorsal aorta normally regresses but when it persists, a double aortic arch develops; if the left dorsal aorta also regresses, a right aortic arch forms csmith 2010-10-05T10:26:31Z right dorsal aorta remnant MPheno.ontology failure of right dorsal aorta regression MP:0010572 persistent right dorsal aorta MP:0010572 persistence of the right dorsal aorta after development; the right dorsal aorta normally regresses but when it persists, a double aortic arch develops; if the left dorsal aorta also regresses, a right aortic arch forms https://orcid.org/0000-0003-3691-0324 regression of the left dorsal aorta which normally develops into the aortic arch; together with a persistent right dorsal aorta, a right aortic arch forms csmith 2010-10-05T10:31:29Z MPheno.ontology MP:0010573 left dorsal aorta regression MP:0010573 regression of the left dorsal aorta which normally develops into the aortic arch; together with a persistent right dorsal aorta, a right aortic arch forms https://orcid.org/0000-0003-3691-0324 the luminal space of the aorta is increased in volume or area, usually with an increase of contained fluid csmith 2010-10-05T11:26:42Z Fyler:2708 aorta dilation aortic dilation dilated aortae dilated aortas MPheno.ontology MP:0010574 dilated aorta MP:0010574 the luminal space of the aorta is increased in volume or area, usually with an increase of contained fluid https://orcid.org/0000-0003-3691-0324 the luminal space of the aortic arch is increased in volume or area, usually with an increase of contained fluid csmith 2010-10-05T11:27:29Z Fyler:2706 aorta arch dilation MPheno.ontology MP:0010575 aortic arch dilation MP:0010575 the luminal space of the aortic arch is increased in volume or area, usually with an increase of contained fluid https://orcid.org/0000-0003-3691-0324 premature regression of the ductus arteriosus that normally regresses into a fibrous cord, the ligamentum arteriousum after birth csmith 2010-10-05T11:44:24Z premature regression of the ductus arteriosus MPheno.ontology MP:0010576 premature closure of the ductus arteriosus MP:0010576 premature regression of the ductus arteriosus that normally regresses into a fibrous cord, the ligamentum arteriousum after birth ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 anomaly of the average size of the right ventricle compared to the average for a particular population csmith 2010-10-05T11:51:04Z MPheno.ontology MP:0010577 abnormal heart right ventricle size MP:0010577 anomaly of the average size of the right ventricle compared to the average for a particular population https://orcid.org/0000-0003-3691-0324 anomaly of the average size of the left ventricle compared to the average for a particular population csmith 2010-10-05T11:52:23Z abnormal left ventricle size MPheno.ontology MP:0010578 abnormal heart left ventricle size MP:0010578 anomaly of the average size of the left ventricle compared to the average for a particular population https://orcid.org/0000-0003-3691-0324 greater than average size of the left ventricle csmith 2010-10-05T11:52:42Z MP:0008774 enlarged heart left ventricle enlarged left ventricle MPheno.ontology MP:0010579 increased heart left ventricle size MP:0010579 greater than average size of the left ventricle https://orcid.org/0000-0003-3691-0324 less than average size of the left ventricle compared to the average for a particular population csmith 2010-10-05T11:52:57Z decreased left ventricle size reduced left ventricle size MPheno.ontology MP:0010580 decreased heart left ventricle size MP:0010580 less than average size of the left ventricle compared to the average for a particular population https://orcid.org/0000-0003-3691-0324 any structural anomaly of the supporting bundles of muscular fibers lining the walls of the atria csmith 2010-10-05T11:59:35Z MPheno.ontology MP:0010581 abnormal atrium myocardial trabeculae morphology MP:0010581 any structural anomaly of the supporting bundles of muscular fibers lining the walls of the atria ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 anomaly in the process in which the distal swelling of the primitive heart tube separates into an inferior end, which will form much of the right ventricle, and a superior end, which first form an outflow channel called the conotruncus; the conotruncus will in turn give rise to the more proximal conus cordis and the more distal truncus arteriosus csmith 2010-10-05T01:53:41Z MPheno.ontology MP:0010582 abnormal bulbus cordis septation MP:0010582 anomaly in the process in which the distal swelling of the primitive heart tube separates into an inferior end, which will form much of the right ventricle, and a superior end, which first form an outflow channel called the conotruncus; the conotruncus will in turn give rise to the more proximal conus cordis and the more distal truncus arteriosus ISBN:0-683-40008-8 any structural anomaly of the distal portion of the bulbus cordis that will give rise to the conus cordis, which will give rise to the outflow regions of the ventricles, and the truncus arteriosus which will be divided into proximal ends of the ascending aorta and pulmonary trunk csmith 2010-10-05T02:09:42Z abnormal bulbus cordis, rostral half morphology MPheno.ontology MP:0010583 abnormal conotruncus morphology MP:0010583 any structural anomaly of the distal portion of the bulbus cordis that will give rise to the conus cordis, which will give rise to the outflow regions of the ventricles, and the truncus arteriosus which will be divided into proximal ends of the ascending aorta and pulmonary trunk ISBN:0-683-40008-8 anomaly in the process in which the conotruncus separates into the conus cordis, which will give rise to the outflow regions of the ventricles, and the truncus arteriosus which will be divided into proximal ends of the ascending aorta and pulmonary trunk csmith 2010-10-05T02:16:30Z abnormal conotruncal septation MPheno.ontology MP:0010584 abnormal conotruncus septation MP:0010584 anomaly in the process in which the conotruncus separates into the conus cordis, which will give rise to the outflow regions of the ventricles, and the truncus arteriosus which will be divided into proximal ends of the ascending aorta and pulmonary trunk https://orcid.org/0000-0003-3691-0324 any structural anomaly of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum csmith 2010-10-05T02:18:13Z abnormal aortico-pulmonary spiral ridges abnormal bulbar ridge morphology abnormal conotruncal cushion morphology abnormal conotruncal cushions abnormal conotruncal ridges abnormal endocardial ridges abnormal outflow tract cushion morphology abnormal outflow tract endocardial cushion morphology MPheno.ontology MP:0010585 abnormal conotruncal ridge morphology MP:0010585 any structural anomaly of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum PMID:8823298 https://orcid.org/0000-0003-3691-0324 absence of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum csmith 2010-10-05T02:26:19Z absent aortico-pulmonary spiral ridges absent bulbar ridges absent conotruncal cushion absent conotruncal cushions absent endocardial ridges absent outflow tract cushions MPheno.ontology MP:0010586 absent conotruncal ridges MP:0010586 absence of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum PMID:8823298 https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the conotruncal ridge, typically resulting in decreased size csmith 2010-10-05T02:26:38Z aortico-pulmonary spiral ridge hypoplasia bulbar ridge hypoplasia conotruncal cushion hypoplasia hypoplastic conotruncal ridge outflow tract cushion hypoplasia MPheno.ontology MP:0010587 conotruncal ridge hypoplasia MP:0010587 decrease in the number of normal cells in normal arrangement in the conotruncal ridge, typically resulting in decreased size PMID:8823298 https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the conotruncal ridge, typically resulting in increased size csmith 2010-10-05T02:26:55Z aortico-pulmonary spiral ridge hyperplasia bulbar ridge hyperplasia conotruncal cushion hyperplasia endocardial ridge hyperplasia hyperplastic conotruncal ridge outflow tract cushion hyperplasia MPheno.ontology MP:0010588 conotruncal ridge hyperplasia MP:0010588 increase in the number of normal cells in normal arrangement in the conotruncal ridge, typically resulting in increased size PMID:8823298 https://orcid.org/0000-0003-3691-0324 a single outflow tract valve that opens into the truncus arteriosus that is frequently present in cases of truncus arteriosus septation defects csmith 2010-10-05T03:12:22Z MPheno.ontology MP:0010589 common truncal valve MP:0010589 a single outflow tract valve that opens into the truncus arteriosus that is frequently present in cases of truncus arteriosus septation defects https://orcid.org/0000-0003-3691-0324 abnormal constriction or narrowing of the single outflow tract valve that opens into the truncus arteriosus that is frequently present in cases of truncus arteriosus septation defects csmith 2010-10-05T03:13:47Z Fyler:1440 MPheno.ontology MP:0010590 common truncal valve stenosis MP:0010590 abnormal constriction or narrowing of the single outflow tract valve that opens into the truncus arteriosus that is frequently present in cases of truncus arteriosus septation defects https://orcid.org/0000-0003-3691-0324 an increase in the total area occupied by the aortic valve csmith 2010-10-05T04:03:55Z enlarged aortic semi-lunar valve enlarged aortic semilunar valve enlarged left semi-lunar valve enlarged left semilunar valve enlarged left ventriculoarterial junction increased aortic valve size MPheno.ontology MP:0010591 enlarged aortic valve MP:0010591 an increase in the total area occupied by the aortic valve https://orcid.org/0000-0003-3691-0324 any structural anomaly of the wall of the heart that separates the right atrium and left ventricle; and is located just above the septal cusp of the tricuspid valve csmith 2010-10-06T09:21:20Z abnormal AV septum morphology MPheno.ontology MP:0010592 abnormal atrioventricular septum morphology MP:0010592 any structural anomaly of the wall of the heart that separates the right atrium and left ventricle; and is located just above the septal cusp of the tricuspid valve ISBN:0-683-40008-8 an increase in the ratio of the aortic valve cusp thickness to the aortic wall thickness csmith 2010-10-05T04:04:39Z Fyler:1486 thick aortic valve leaflets thickened aortic valve cusps thickened aortic valve leaflets MPheno.ontology MP:0010593 thick aortic valve cusps MP:0010593 an increase in the ratio of the aortic valve cusp thickness to the aortic wall thickness https://orcid.org/0000-0003-3691-0324 an increase in the ratio of the aortic valve wall thickness to the aortic wall thickness csmith 2010-10-05T04:05:30Z TAV thick aortic semi-lunar valve thick aortic semilunar valve thick left arterial valve thick left semi-lunar valve thick left semilunar valve thick left ventriculoarterial junction thickened aortic valve MPheno.ontology MP:0010594 thick aortic valve MP:0010594 an increase in the ratio of the aortic valve wall thickness to the aortic wall thickness https://orcid.org/0000-0003-3691-0324 any structural anomaly of the three fibrous triangular components and associated flap of the aortic valve csmith 2010-10-05T04:07:55Z Fyler:1480 abnormal aortic valve leaflet morphology MPheno.ontology MP:0010595 abnormal aortic valve cusp morphology MP:0010595 any structural anomaly of the three fibrous triangular components and associated flap of the aortic valve https://orcid.org/0000-0003-3691-0324 the presence of one cusp and associated flap in the aortic valve instead of three csmith 2010-10-05T04:12:50Z MPheno.ontology MP:0010596 unicuspid aortic valve MP:0010596 the presence of one cusp and associated flap in the aortic valve instead of three https://orcid.org/0000-0003-3691-0324 absence of the three fibrous triangular components and associated flaps of the aortic valve csmith 2010-10-06T09:44:20Z Fyler:1484 absent aortic cusps absent aortic valve leaflets MPheno.ontology MP:0010597 absent aortic valve cusps MP:0010597 absence of the three fibrous triangular components and associated flaps of the aortic valve https://orcid.org/0000-0003-3691-0324 any structural anomaly of the fibrous ring of the aortic valve that attaches the cusps of aortic valve to the wall of left ventricle, and which consists of portions of the fibrous scallops of the posterior, right anterior and left anterior cusps csmith 2010-10-06T09:45:59Z abnormal aortic annulus morphology abnormal aortic anulus morphology abnormal aortic valvar annulus morphology abnormal aortic valvar anulus morphology abnormal aortic valve anulus morphology abnormal fibrous ring of aortic valve MPheno.ontology MP:0010598 abnormal aortic valve annulus morphology MP:0010598 any structural anomaly of the fibrous ring of the aortic valve that attaches the cusps of aortic valve to the wall of left ventricle, and which consists of portions of the fibrous scallops of the posterior, right anterior and left anterior cusps https://orcid.org/0000-0003-3691-0324 anomaly in the process by which the dorsal and ventral endocardial cushions develop in the walls of the common atrioventricular canal, grow toward each other and fuse, dividing the common atrioventricular canal into right and left atrioventricular canals and the atrioventricular septum csmith 2010-10-06T09:58:37Z abnormal foetal atrioventricular canal septation abnormal partitioning of the atrioventricular canal MPheno.ontology MP:0010599 abnormal fetal atrioventricular canal septation MP:0010599 anomaly in the process by which the dorsal and ventral endocardial cushions develop in the walls of the common atrioventricular canal, grow toward each other and fuse, dividing the common atrioventricular canal into right and left atrioventricular canals and the atrioventricular septum https://orcid.org/0000-0003-3691-0324 an increase in the total area occupied by the pulmonary valve csmith 2010-10-06T10:39:15Z enlarged pulmonic valve enlarged right arterial valve enlarged right semi-lunar valve enlarged right semilunar valve increased pulmonary valve size MPheno.ontology MP:0010600 enlarged pulmonary valve MP:0010600 an increase in the total area occupied by the pulmonary valve https://orcid.org/0000-0003-3691-0324 an increase in the ratio of the pulmonary valve wall thickness to the pulmonary artery wall thickness csmith 2010-10-06T10:39:35Z TPV thick pulmonic valve thick right arterial valve thick right semi-lunar valve thick right semilunar valve thickened pulmonary valve MPheno.ontology MP:0010601 thick pulmonary valve MP:0010601 an increase in the ratio of the pulmonary valve wall thickness to the pulmonary artery wall thickness https://orcid.org/0000-0003-3691-0324 any structural anomaly of the three fibrous triangular components and associated flap of the pulmonary valve csmith 2010-10-06T10:40:42Z Fyler:1652 abnormal pulmonary valve leaflet morphology abnormal pulmonic valve cusp morphology abnormal pulmonic valve leaflet morphology MPheno.ontology MP:0010602 abnormal pulmonary valve cusp morphology MP:0010602 any structural anomaly of the three fibrous triangular components and associated flap of the pulmonary valve https://orcid.org/0000-0003-3691-0324 the presence of one cusp and associated flap in the pulmonary valve instead of three csmith 2010-10-06T10:41:21Z unicuspid pulmonic valve MPheno.ontology MP:0010603 unicuspid pulmonary valve MP:0010603 the presence of one cusp and associated flap in the pulmonary valve instead of three https://orcid.org/0000-0003-3691-0324 absence of the three fibrous triangular components and associated flaps of the pulmonary valve csmith 2010-10-06T10:41:41Z absent pulmonary cusps absent pulmonic valve cusps MPheno.ontology MP:0010604 absent pulmonary valve cusps MP:0010604 absence of the three fibrous triangular components and associated flaps of the pulmonary valve https://orcid.org/0000-0003-3691-0324 an increase in the ratio of the pulmonary valve cusp thickness to the pulmonary artery wall thickness csmith 2010-10-06T10:41:59Z thick pulmonary valve leaflets thickened pulmonary valve cusps thickened pulmonary valve leaflets thickened pulmonic valve cusps MPheno.ontology MP:0010605 thick pulmonary valve cusps MP:0010605 an increase in the ratio of the pulmonary valve cusp thickness to the pulmonary artery wall thickness https://orcid.org/0000-0003-3691-0324 any structural anomaly of the fibrous ring of the pulmonary valve that attaches the cusps of pulmonary valve to the wall of right ventricle, and which consists of portions of the fibrous scallops of the anterior, right posterior and left posterior cusps csmith 2010-10-06T10:42:37Z abnormal pulmonary valve anulus morphology abnormal pulmonic valve annulus abnormal pulmonic valve anulus MPheno.ontology MP:0010606 abnormal pulmonary valve annulus morphology MP:0010606 any structural anomaly of the fibrous ring of the pulmonary valve that attaches the cusps of pulmonary valve to the wall of right ventricle, and which consists of portions of the fibrous scallops of the anterior, right posterior and left posterior cusps https://orcid.org/0000-0003-3691-0324 the presence of a single atrioventricular valve instead of both a mitral and tricuspid valve, most commonly due to incomplete or failure of fetal atrioventricular canal septation csmith 2010-10-06T12:02:30Z AVSD AV valvar abnormality Fyler:1170 common AV valve MPheno.ontology MP:0010607 common atrioventricular valve MP:0010607 the presence of a single atrioventricular valve instead of both a mitral and tricuspid valve, most commonly due to incomplete or failure of fetal atrioventricular canal septation https://orcid.org/0000-0003-3691-0324 any structural anomaly of the tendinous strands that connect the papillary muscles on the wall of the ventricles to the leaflets of the atrioventricular valves; the chordae tendineae serve to prevent the AV valves from prolapsing back into the atria csmith 2010-10-06T12:08:58Z abnormal tendinous cords MPheno.ontology MP:0010608 abnormal chordae tendineae morphology MP:0010608 any structural anomaly of the tendinous strands that connect the papillary muscles on the wall of the ventricles to the leaflets of the atrioventricular valves; the chordae tendineae serve to prevent the AV valves from prolapsing back into the atria ISBN:0-683-40008-8 absence of the tendinous strands that connect the papillary muscles on the wall of the ventricles to the leaflets of the atrioventricular valves; the chordae tendineae serve to prevent the AV valves from prolapsing back into the atria csmith 2010-10-06T12:11:51Z absent tendinous cords MPheno.ontology MP:0010609 absent chordae tendineae MP:0010609 absence of the tendinous strands that connect the papillary muscles on the wall of the ventricles to the leaflets of the atrioventricular valves; the chordae tendineae serve to prevent the AV valves from prolapsing back into the atria ISBN:0-683-40008-8 the aortic valve remains open during the cardiac cycle csmith 2010-10-06T02:33:27Z open aortic valve patent aortic semi-lunar valve patent aortic semilunar valve patent left arterial valve patent left semi-lunar valve patent left semilunar valve patent left ventriculoarterial junction MPheno.ontology MP:0010610 patent aortic valve MP:0010610 the aortic valve remains open during the cardiac cycle https://orcid.org/0000-0003-3691-0324 the pulmonary valve remains open during the cardiac cycle csmith 2010-10-06T02:34:57Z open pulmonic valve patent pulmonic valve patent right arterial valve patent right semi-lunar valve patent right semilunar valve MPheno.ontology MP:0010611 patent pulmonary valve MP:0010611 the pulmonary valve remains open during the cardiac cycle https://orcid.org/0000-0003-3691-0324 abnormal narrowing, constriction or obstruction of the left ventricular outflow tract due to hypertrophy of the interventricular septum, which results in obstruction to blood flow csmith 2010-10-06T03:15:43Z idiopathic hypertrophic subaortic stenosis MPheno.ontology MP:0010612 muscular subaortic stenosis MP:0010612 abnormal narrowing, constriction or obstruction of the left ventricular outflow tract due to hypertrophy of the interventricular septum, which results in obstruction to blood flow ISBN:0-683-40008-8 any structural anomaly of the fibrous ring of the mitral valve that attaches the cusps of mitral valve to the heart, and which consists of portions of the fibrous scallops of the anterior and posterior cusps csmith 2010-10-06T03:48:15Z abnormal bicuspid valve annulus morphology abnormal bicuspid valve anulus morphology abnormal left AV valve annulus morphology abnormal left AV valve anulus morphology abnormal left atrioventricular valve annulus morphology abnormal left atrioventricular valve anulus morphology abnormal mitral valve anulus morphology MPheno.ontology MP:0010613 abnormal mitral valve annulus morphology MP:0010613 any structural anomaly of the fibrous ring of the mitral valve that attaches the cusps of mitral valve to the heart, and which consists of portions of the fibrous scallops of the anterior and posterior cusps https://orcid.org/0000-0003-3691-0324 any structural anomaly of the two fibrous components and associated flaps of the mitral valve csmith 2010-10-06T03:48:15Z abnormal bicuspid valve cusp morphology abnormal bicuspid valve leaflet morphology abnormal left AV valve cusp morphology abnormal left AV valve leaflet morphology abnormal left atriovntricular valve cusp morphology abnormal left atriovntricular valve leaflet morphology abnormal mitral valve leaflet morphology MPheno.ontology MP:0010614 abnormal mitral valve cusp morphology MP:0010614 any structural anomaly of the two fibrous components and associated flaps of the mitral valve https://orcid.org/0000-0003-3691-0324 the presence of one cusp and associated flap in the mitral valve instead of two csmith 2010-10-06T03:48:15Z unicuspid bicuspid valve unicuspid left AV valve unicuspid left atrioventricular valve MPheno.ontology MP:0010615 unicuspid mitral valve MP:0010615 the presence of one cusp and associated flap in the mitral valve instead of two https://orcid.org/0000-0003-3691-0324 absence of the two fibrous components and associated flaps of the mitral valve csmith 2010-10-06T03:48:15Z absent bicuspid valve cusps absent bicuspid valve leaflets absent left AV valve cusps absent left AV valve leaflets absent left atrioventricular valve cusps absent left atrioventricular valve leaflets absent mitral valve leaflets MPheno.ontology MP:0010616 absent mitral valve cusps MP:0010616 absence of the two fibrous components and associated flaps of the mitral valve https://orcid.org/0000-0003-3691-0324 an increase in the ratio of the mitral valve cusp wall thickness to the atrioventricular septum thickness csmith 2010-10-06T03:48:15Z thick bicuspid valve cusps thick bicuspid valve leaflets thick left AV valve cusps thick left AV valve leaflets thick left atrioventricular valve cusps thick left atrioventricular valve leaflets thickened bicuspid valve cusps thickened bicuspid valve leaflets thickened mitral valve cusps thickened mitral valve leaflets MPheno.ontology MP:0010617 thick mitral valve cusps MP:0010617 an increase in the ratio of the mitral valve cusp wall thickness to the atrioventricular septum thickness https://orcid.org/0000-0003-3691-0324 an increase in the total area occupied by the mitral valve csmith 2010-10-06T03:48:15Z enlarged bicuspid valve enlarged left AV valve enlarged left atrioventricular valve increased bicuspid valve size increased left AV valve size increased left atrioventricular valve size increased mitral valve size MPheno.ontology MP:0010618 enlarged mitral valve MP:0010618 an increase in the total area occupied by the mitral valve https://orcid.org/0000-0003-3691-0324 the mitral valve remains open during the cardiac cycle csmith 2010-10-06T03:48:15Z open bicuspid valve open left AV valve open left atrioventricular valve open mitral valve patent bicuspid valve patent left AV valve patent left atrioventricular valve MPheno.ontology MP:0010619 patent mitral valve MP:0010619 the mitral valve remains open during the cardiac cycle https://orcid.org/0000-0003-3691-0324 an increase in the ratio of the mitral valve wall thickness to the atrioventricular septum thickness csmith 2010-10-06T03:48:15Z thick bicuspid valve thick left AV valve thick left atrioventricular valve thickened bicuspid valve thickened mitral valve MPheno.ontology MP:0010620 thick mitral valve MP:0010620 an increase in the ratio of the mitral valve wall thickness to the atrioventricular septum thickness https://orcid.org/0000-0003-3691-0324 any structural anomaly of the fibrous ring of the tricuspid valve that attaches the cusps of tricuspid valve to the heart, and which consists of portions of the fibrous scallops of the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp) csmith 2010-10-06T03:50:28Z abnormal right AV valve annulus morphology abnormal right atrioventricular valve annulus morphology abnormal tricuspid valve anulus morphology MPheno.ontology MP:0010621 abnormal tricuspid valve annulus morphology MP:0010621 any structural anomaly of the fibrous ring of the tricuspid valve that attaches the cusps of tricuspid valve to the heart, and which consists of portions of the fibrous scallops of the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp) https://orcid.org/0000-0003-3691-0324 any structural anomaly of the three fibrous triangular components and associated flaps of the tricuspid valve csmith 2010-10-06T03:50:28Z abnormal right AV valve cusp morphology abnormal right AV valve leaflet morphology abnormal right atrioventricular valve cusp morphology abnormal right atrioventricular valve leaflet morphology abnormal tricuspid valve leaflet morphology MPheno.ontology MP:0010622 abnormal tricuspid valve cusp morphology MP:0010622 any structural anomaly of the three fibrous triangular components and associated flaps of the tricuspid valve https://orcid.org/0000-0003-3691-0324 the presence of two cusps and associated flaps in the tricuspid valve instead of three csmith 2010-10-06T03:50:28Z bicuspid right AV valve bicuspid right atrioventricular valve MPheno.ontology MP:0010623 bicuspid tricuspid valve MP:0010623 the presence of two cusps and associated flaps in the tricuspid valve instead of three https://orcid.org/0000-0003-3691-0324 bicuspid right AV valve https://orcid.org/0000-0002-6490-7723 bicuspid right atrioventricular valve https://orcid.org/0000-0002-6490-7723 the presence of one cusp and associated flap in the tricuspid valve instead of three csmith 2010-10-06T03:50:28Z unicuspid right AV valve unicuspid right atrioventricular valve MPheno.ontology MP:0010624 unicuspid tricuspid valve MP:0010624 the presence of one cusp and associated flap in the tricuspid valve instead of three https://orcid.org/0000-0003-3691-0324 unicuspid right AV valve https://orcid.org/0000-0002-6490-7723 unicuspid right atrioventricular valve UBERON:0002134 https://orcid.org/0000-0002-6490-7723 absence of the three fibrous triangular components and associated flaps of the tricuspid valve csmith 2010-10-06T03:50:28Z absent right AV valve cusps absent right AV valve leaflets absent right atrioventricular valve cusps absent right atrioventricular valve leaflets absent tricuspid valve leaflets MPheno.ontology MP:0010625 absent tricuspid valve cusps MP:0010625 absence of the three fibrous triangular components and associated flaps of the tricuspid valve https://orcid.org/0000-0003-3691-0324 an increase in the ratio of the tricuspid valve cusp wall thickness to the atrioventricular septum thickness csmith 2010-10-06T03:50:28Z thick right AV valve cusps thick right AV valve leaflets thick right atrioventricular valve cusps thick right atrioventricular valve leaflets thick tricuspid valve leaflets thickened tricuspid valve cusps thickened tricuspid valve leaflets MPheno.ontology MP:0010626 thick tricuspid valve cusps MP:0010626 an increase in the ratio of the tricuspid valve cusp wall thickness to the atrioventricular septum thickness https://orcid.org/0000-0003-3691-0324 an increase in the total area occupied by the tricuspid valve csmith 2010-10-06T03:50:28Z enlarged right AV valve enlarged right atrioventricular valve increased right AV valve size increased right atrioventricular valve size increased tricuspid valve size MPheno.ontology MP:0010627 enlarged tricuspid valve MP:0010627 an increase in the total area occupied by the tricuspid valve https://orcid.org/0000-0003-3691-0324 the tricuspid valve remains open during the cardiac cycle csmith 2010-10-06T03:50:28Z open right AV valve open right atrioventricular valve open tricuspid valve patent right AV valve patent right atrioventricular valve MPheno.ontology MP:0010628 patent tricuspid valve MP:0010628 the tricuspid valve remains open during the cardiac cycle https://orcid.org/0000-0003-3691-0324 an increase in the ratio of the tricuspid valve wall thickness to the atrioventricular septum thickness csmith 2010-10-06T03:50:28Z thick right AV valve thick right atrioventricular valve thickened tricuspid valve MPheno.ontology MP:0010629 thick tricuspid valve MP:0010629 an increase in the ratio of the tricuspid valve wall thickness to the atrioventricular septum thickness https://orcid.org/0000-0003-3691-0324 any structural anomaly of the involuntary muscle comprising the myocardium of the heart and the walls of the pulmonary veins and superior vena cava; cardiac muscle is striated and multinucleate, and the cardiomyocytes branch and are joined to one another via intercalated discs 2010-10-07T10:28:22Z abnormal cardiac muscle morphology abnormal heart muscle morphology cardiac muscle abnormalities cardiac muscle dysplasia MPheno.ontology MP:0010630 Do not confuse cardiac muscle tissue with the myocardium. Myocardium consists primarily of cardiac muscle but these structures are not identical. Cardiac muscle tissue also exists outside the heart so this term has not been made a child of heart myocardial layer directly. abnormal cardiac muscle tissue morphology MP:0010630 any structural anomaly of the involuntary muscle comprising the myocardium of the heart and the walls of the pulmonary veins and superior vena cava; cardiac muscle is striated and multinucleate, and the cardiomyocytes branch and are joined to one another via intercalated discs ISBN:0-683-40008-8 increase in the size (height or maximum displacement) of the downward deflection in the ECG occurring after the PR interval that represents depolarization of the interventricular septum csmith 2010-10-07T11:25:47Z MPheno.ontology MP:0010631 increased Q wave amplitude MP:0010631 increase in the size (height or maximum displacement) of the downward deflection in the ECG occurring after the PR interval that represents depolarization of the interventricular septum PMID:16939833 https://orcid.org/0000-0003-3691-0324 morphological changes resulting from pathological death of cardiomyocytes or a portion of the cardiac muscle tissue; usually due to irreversible damage csmith 2010-10-07T10:40:22Z cardiomyocyte necrosis necrotic cardiac muscle MPheno.ontology MP:0010632 cardiac muscle necrosis MP:0010632 morphological changes resulting from pathological death of cardiomyocytes or a portion of the cardiac muscle tissue; usually due to irreversible damage https://orcid.org/0000-0003-3691-0324 an increase in size of the myocardium, not due to increased cell number csmith 2010-10-07T11:57:14Z myocardial hypertrophy MPheno.ontology MP:0010633 myocardium hypertrophy MP:0010633 an increase in size of the myocardium, not due to increased cell number https://orcid.org/0000-0003-3691-0324 increased in the size (height or maximum displacement) of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction, suggesting ventricular excitation defects csmith 2010-10-07T01:51:18Z increased R wave amplitude MPheno.ontology MP:0010634 increased QRS amplitude MP:0010634 increased in the size (height or maximum displacement) of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction, suggesting ventricular excitation defects https://orcid.org/0000-0003-3691-0324 small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus csmith 2010-10-07T02:22:15Z Fyler:2770 MAPCAs aorta-pulmonary collateral arteries aortico-pulmonary collateral arteries aorticopulmonary collateral arteries aorto-pulmonary collateral arteries aortopulmonary collateral artery major aorto-pulmonary collateral arteries systemic-pulmonary collateral arteries MPheno.ontology MP:0010635 aorta pulmonary collateral arteries MP:0010635 small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus PMID:16483787 intraventricular block resulting from an interruption or partial or complete block of conduction in one of the two atrioventricular bundle branches; a prolonged QRS complex seen on an ECG indicates defects in bundle branch conduction; blocks in each branch result in a distinct QRS ECG waveform morphology csmith 2010-10-07T02:53:36Z bundle-branch block MPheno.ontology MP:0010636 bundle branch block MP:0010636 intraventricular block resulting from an interruption or partial or complete block of conduction in one of the two atrioventricular bundle branches; a prolonged QRS complex seen on an ECG indicates defects in bundle branch conduction; blocks in each branch result in a distinct QRS ECG waveform morphology ISBN:0-683-40008-8 a type of decreased heart rhythm in which fewer than the normal number of impulses arise from the sinoatrial (SA) node csmith 2010-10-07T03:32:59Z Fyler:7013 MPheno.ontology MP:0010637 sinus bradycardia MP:0010637 a type of decreased heart rhythm in which fewer than the normal number of impulses arise from the sinoatrial (SA) node ISBN:0-683-40008-8 absence of the electron dense junctional complex, at the end to end contacts of cardiac muscle cells, that contains two types of membrane junctions i.e. gap junctions and desmosomes csmith 2010-10-07T04:19:54Z absent intercalated discs MPheno.ontology MP:0010638 absent intercalated disks MP:0010638 absence of the electron dense junctional complex, at the end to end contacts of cardiac muscle cells, that contains two types of membrane junctions i.e. gap junctions and desmosomes https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 any changes associated with the chemistry, immunohistology, cellular alterations or environmental interactions of tumors compared to the expected state csmith 2010-10-08T08:18:43Z altered neoplasm pathology abnormal tumour pathology altered tumor pathology altered tumour pathology MPheno.ontology MP:0010639 abnormal tumor pathology MP:0010639 any changes associated with the chemistry, immunohistology, cellular alterations or environmental interactions of tumors compared to the expected state https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the ventricular myocardium compact layer, typically resulting in decreased size csmith 2010-10-08T02:12:02Z ventricle myocardium compact layer hypoplasia ventricular myocardium compact zone hypoplasia MPheno.ontology MP:0010640 ventricular myocardium compact layer hypoplasia MP:0010640 decrease in the number of normal cells in normal arrangement in the ventricular myocardium compact layer, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 diffuse constriction or narrowing of the descending aorta csmith 2010-10-12T09:34:26Z MPheno.ontology MP:0010641 descending aorta stenosis MP:0010641 diffuse constriction or narrowing of the descending aorta https://orcid.org/0000-0003-3691-0324 absence of the structure of the third arch which contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus csmith 2010-10-12T10:09:00Z absent third branchial arch MPheno.ontology MP:0010642 absent third pharyngeal arch MP:0010642 absence of the structure of the third arch which contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus https://orcid.org/0000-0003-4606-0597 absence of the structure of the fourth arch which contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus csmith 2010-10-12T10:15:42Z absent fourth branchial arch MPheno.ontology MP:0010643 absent fourth pharyngeal arch MP:0010643 absence of the structure of the fourth arch which contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus https://orcid.org/0000-0003-4606-0597 absence of the structure of the sixth arch which contributes to the development of the sternocleidomastoid and trapezius muscles csmith 2010-10-12T10:16:01Z absent sixth branchial arch MPheno.ontology MP:0010644 absent sixth pharyngeal arch MP:0010644 absence of the structure of the sixth arch which contributes to the development of the sternocleidomastoid and trapezius muscles https://orcid.org/0000-0003-4606-0597 failure of the conotruncal ridges to develop from the conotruncus, meet at the midline and fuse to form the conotruncal septum csmith 2010-10-12T11:19:07Z failure of aortico-pulmonary spiral ridge fusion failure of bulbar ridge closure failure of conotruncal ridge fusion failure of endocardial ridge fusion MPheno.ontology MP:0010645 failure of conotruncal ridge closure MP:0010645 failure of the conotruncal ridges to develop from the conotruncus, meet at the midline and fuse to form the conotruncal septum https://orcid.org/0000-0003-3691-0324 absence of the veins that return oxygenated blood from the lungs to the left atrium of the heart csmith 2010-10-12T11:21:15Z MPheno.ontology MP:0010646 absent pulmonary vein MP:0010646 absence of the veins that return oxygenated blood from the lungs to the left atrium of the heart https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the heart left atrium, typically resulting in decreased size csmith 2010-10-12T11:23:01Z Fyler:3040 hypoplastic left atrium MPheno.ontology left atrial hypoplasia MP:0010647 heart left atrium hypoplasia MP:0010647 decrease in the number of normal cells in normal arrangement in the heart left atrium, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the heart right atrium, typically resulting in decreased size csmith 2010-10-12T11:23:22Z right atrial hypoplasia MPheno.ontology MP:0010648 heart right atrium hypoplasia MP:0010648 decrease in the number of normal cells in normal arrangement in the heart right atrium, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 the luminal space of the pulmonary trunk is increased in volume or area, usually with an increase of contained fluid csmith 2010-10-12T12:59:44Z dilated pulmonary trunks pulmonary trunk dilation MPheno.ontology MP:0010649 dilated pulmonary trunk MP:0010649 the luminal space of the pulmonary trunk is increased in volume or area, usually with an increase of contained fluid https://orcid.org/0000-0003-3691-0324 any structural anomaly of the spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta csmith 2010-10-13T11:38:13Z abnormal aortico-pulmonary spiral septum morphology abnormal aorto-pulmonary septum morphology abnormal aortopulmonary septum morphology MPheno.ontology MP:0010650 abnormal aorticopulmonary septum morphology MP:0010650 any structural anomaly of the spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta ISBN:0-683-40008-8 an abnormal communication in the septum between the aorta and pulmonary artery, resulting from incomplete separation of the common tube of the truncus arteriosus and the aorticopulmonary trunk csmith 2010-10-13T11:39:49Z APSD aortopulmonary septal defect MPheno.ontology MP:0010651 aorticopulmonary septal defect MP:0010651 an abnormal communication in the septum between the aorta and pulmonary artery, resulting from incomplete separation of the common tube of the truncus arteriosus and the aorticopulmonary trunk http://emedicine.medscape.com absence of the spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta csmith 2010-10-13T11:44:21Z MPheno.ontology MP:0010652 absent aorticopulmonary septum MP:0010652 absence of the spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta https://orcid.org/0000-0003-3691-0324 any anomaly in the process of progressive degeneration of axons distal to an injury csmith 2010-10-13T04:07:55Z abnormal anterograde degeneration abnormal orthograde degeneration MPheno.ontology MP:0010653 abnormal Wallerian degeneration MP:0010653 any anomaly in the process of progressive degeneration of axons distal to an injury PMID:20345246 an increase in the length of time for the process of progressive degeneration of axons distal to an injury to occur csmith 2010-10-13T04:09:22Z MPheno.ontology MP:0010654 slow Wallerian degeneration MP:0010654 an increase in the length of time for the process of progressive degeneration of axons distal to an injury to occur PMID:20345246 absence of the gelatinous noncellular material between the endothelial lining and the myocardial layer of the developing heart csmith 2010-10-14T11:14:08Z MPheno.ontology MP:0010655 absent cardiac jelly MP:0010655 absence of the gelatinous noncellular material between the endothelial lining and the myocardial layer of the developing heart https://orcid.org/0000-0003-4606-0597 increased thickness of the heart muscle layer csmith 2010-10-15T03:47:11Z MPheno.ontology MP:0010656 thick myocardium MP:0010656 increased thickness of the heart muscle layer https://orcid.org/0000-0003-3691-0324 absence of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery csmith 2010-10-18T03:22:36Z MPheno.ontology MP:0010657 absent pulmonary trunk MP:0010657 absence of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery https://orcid.org/0000-0003-3691-0324 a protruding sac formed by the dilation of the wall of the part of the aorta that extends from the origin at the heart to the diaphragm, resulting from a weakening of the vessel wall csmith 2010-10-19T10:48:18Z MPheno.ontology MP:0010658 thoracic aorta aneurysm MP:0010658 a protruding sac formed by the dilation of the wall of the part of the aorta that extends from the origin at the heart to the diaphragm, resulting from a weakening of the vessel wall ISBN:0-683-40008-8 a protruding sac formed by the dilation of the wall of the part of the descending aorta that begins at the diaphragm and continues to the point of the common iliac arteries, resulting from a weakening of the vessel wall csmith 2010-10-19T10:48:39Z MPheno.ontology MP:0010659 abdominal aorta aneurysm MP:0010659 a protruding sac formed by the dilation of the wall of the part of the descending aorta that begins at the diaphragm and continues to the point of the common iliac arteries, resulting from a weakening of the vessel wall ISBN:0-683-40008-8 a protruding sac formed by the dilation of the wall of the of the part of the aorta that extends from the arch of the aorta to the diaphragm, resulting from a weakening of the vessel wall csmith 2010-10-19T10:50:52Z MPheno.ontology MP:0010660 descending thoracic aorta aneurysm MP:0010660 a protruding sac formed by the dilation of the wall of the of the part of the aorta that extends from the arch of the aorta to the diaphragm, resulting from a weakening of the vessel wall ISBN:0-683-40008-8 a protruding sac formed by the dilation of the wall of the of the part of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch, resulting from a weakening of the vessel wall csmith 2010-10-19T10:56:31Z Fyler:2310 MPheno.ontology MP:0010661 ascending aorta aneurysm MP:0010661 a protruding sac formed by the dilation of the wall of the of the part of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch, resulting from a weakening of the vessel wall ISBN:0-683-40008-8 any structural anomaly of the small branching sprouts of the dorsal aorta that grow across the medial surface of the somite, turn right angles to grow over that surface and then fuse with other sprouts and form the vertebral arteries adjacent to the neural tube; the intersomitic arteries supply the body wall and persist in the adult as the posterior intercostal, subcostal and the lumbar arteries csmith 2010-10-19T11:32:55Z abnormal intersegmental artery morphology abnormal somitic artery morphology MPheno.ontology MP:0010662 abnormal intersomitic artery morphology MP:0010662 any structural anomaly of the small branching sprouts of the dorsal aorta that grow across the medial surface of the somite, turn right angles to grow over that surface and then fuse with other sprouts and form the vertebral arteries adjacent to the neural tube; the intersomitic arteries supply the body wall and persist in the adult as the posterior intercostal, subcostal and the lumbar arteries ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the short first aortic arch branch which divides into the right subclavian artery and the right common carotid artery csmith 2010-10-19T12:10:18Z abnormal brachiocephalic artery morphology abnormal innominate artery morphology MPheno.ontology MP:0010663 abnormal brachiocephalic trunk morphology MP:0010663 any structural anomaly of the short first aortic arch branch which divides into the right subclavian artery and the right common carotid artery https://orcid.org/0000-0003-3691-0324 any structural anomaly of the paired arteries that carry blood to the yolk sac from the dorsal aorta; the vitelline arteries give rise to the celiac artery, superior mesenteric artery, and inferior mesenteric artery in the adult csmith 2010-10-19T03:22:48Z abnormal omphalomesenteric artery morphology MPheno.ontology MP:0010664 abnormal vitelline artery morphology MP:0010664 any structural anomaly of the paired arteries that carry blood to the yolk sac from the dorsal aorta; the vitelline arteries give rise to the celiac artery, superior mesenteric artery, and inferior mesenteric artery in the adult ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 failure of the vitelline arteries to regress and remodel into the celiac artery, superior mesenteric artery, and inferior mesenteric artery in the adult csmith 2010-10-19T03:26:06Z persistent omphalomesenteric artery MPheno.ontology MP:0010665 persistent vitelline artery MP:0010665 failure of the vitelline arteries to regress and remodel into the celiac artery, superior mesenteric artery, and inferior mesenteric artery in the adult https://orcid.org/0000-0003-3691-0324 any structural anomaly of the paired veins that carry blood from the yolk sac back to the embryo csmith 2010-10-19T03:38:28Z abnormal omphalomesenteric vein morphology MPheno.ontology MP:0010666 abnormal vitelline vein morphology MP:0010666 any structural anomaly of the paired veins that carry blood from the yolk sac back to the embryo ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the vein that returns oxygenated blood from the placenta to the fetus through the umbilical cord csmith 2010-10-19T03:45:54Z MPheno.ontology MP:0010667 abnormal umbilical vein morphology MP:0010667 any structural anomaly of the vein that returns oxygenated blood from the placenta to the fetus through the umbilical cord ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the wide short vein formed from the confluence of the superior mesenteric, inferior mesenteric and splenic veins, and then divides into the right and left branches which ramify with the liver; the hepatic portal vein carries venous blood from the GI tract, spleen and pancreas to the liver csmith 2010-10-20T09:31:49Z abnormal HPV morphology abnormal PV morphology abnormal portal vein morphology MPheno.ontology MP:0010668 abnormal hepatic portal vein morphology MP:0010668 any structural anomaly of the wide short vein formed from the confluence of the superior mesenteric, inferior mesenteric and splenic veins, and then divides into the right and left branches which ramify with the liver; the hepatic portal vein carries venous blood from the GI tract, spleen and pancreas to the liver ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any anomaly in the process in which B cell apoptosis occurs upon engagement of either the B cell receptor or CD40, but not both; the engagement leads to expression of fas or related receptors that make the B cell susceptible to fas-ligand mediated death csmith 2010-10-20T10:46:11Z abnormal AICD abnormal antigen-driven apoptosis GO:0071948 abnormal activated B cell apoptosis abnormal activation-induced B-cell apoptosis abnormal activation-induced cell death of B cells abnormal activation-induced cell death of B lymphocytes abnormal activation-induced cell death of B-cells abnormal activation-induced cell death of B-lymphocytes MPheno.ontology MP:0010669 abnormal activation-induced B cell apoptosis MP:0010669 any anomaly in the process in which B cell apoptosis occurs upon engagement of either the B cell receptor or CD40, but not both; the engagement leads to expression of fas or related receptors that make the B cell susceptible to fas-ligand mediated death PMID:11032170 any anomaly in the process of the type of T cell apoptosis that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen and is triggered by T cell receptor stimulation and signals transmitted via various surface-expressed members of the TNF receptor family such as Fas ligand, Fas, and TNF and the p55 and p75 TNF receptors csmith 2010-10-20T10:55:08Z abnormal AICD abnormal antigen-driven apoptosis GO:0006924 abnormal activated T cell apoptosis abnormal activation-induced cell death of T lymphocytes abnormal activation-induced cell death of T-cells abnormal activation-induced cell death of T-lymphocytes MPheno.ontology MP:0010670 abnormal activation-induced cell death of T cells MP:0010670 any anomaly in the process of the type of T cell apoptosis that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen and is triggered by T cell receptor stimulation and signals transmitted via various surface-expressed members of the TNF receptor family such as Fas ligand, Fas, and TNF and the p55 and p75 TNF receptors PMID:12752672 any structural anomaly of a CD8-positive, alpha-beta positive T cell with the phenotype CCR6-positive, CCR5-high, CD45RA-negative, and secreting IL-17 and some IFNg csmith 2010-10-20T11:11:44Z abnormal Tc17 T cell morphology abnormal Tc17 T lymphocyte morphology abnormal Tc17 T-cell morphology abnormal Tc17 T-lymphocyte morphology MPheno.ontology MP:0010671 Found in the CD27-positive CD28-positive or CD27-negative CD28-positive fractions with the phenotype CCR4-negative and CCR7-negative. abnormal Tc17 cell morphology MP:0010671 any structural anomaly of a CD8-positive, alpha-beta positive T cell with the phenotype CCR6-positive, CCR5-high, CD45RA-negative, and secreting IL-17 and some IFNg CL:0002128 PMID:19201830 increased cell number of a CD8-positive, alpha-beta positive T cell with the phenotype CCR6-positive, CCR5-high, CD45RA-negative, and secreting IL-17 and some IFNg csmith 2010-10-20T11:16:23Z increased Tc17 T cell number increased Tc17 T lymphocyte number increased Tc17 T-cell number increased Tc17 T-lymphocyte number MPheno.ontology MP:0010672 Found in the CD27-positive CD28-positive or CD27-negative CD28-positive fractions with the phenotype CCR4-negative and CCR7-negative. increased Tc17 cell number MP:0010672 increased cell number of a CD8-positive, alpha-beta positive T cell with the phenotype CCR6-positive, CCR5-high, CD45RA-negative, and secreting IL-17 and some IFNg CL:0002128 PMID:19201830 reduced cell number of a CD8-positive, alpha-beta positive T cell with the phenotype CCR6-positive, CCR5-high, CD45RA-negative, and secreting IL-17 and some IFNg csmith 2010-10-20T11:16:23Z decreased Tc17 T cell number decreased Tc17 T lymphocyte number decreased Tc17 T-cell number decreased Tc17 T-lymphocyte number reduced Tc17 T cell number reduced Tc17 T lymphocyte number reduced Tc17 T-cell number reduced Tc17 T-lymphocyte number reduced Tc17 cell number MPheno.ontology MP:0010673 Found in the CD27-positive CD28-positive or CD27-negative CD28-positive fractions with the phenotype CCR4-negative and CCR7-negative. decreased Tc17 cell number MP:0010673 reduced cell number of a CD8-positive, alpha-beta positive T cell with the phenotype CCR6-positive, CCR5-high, CD45RA-negative, and secreting IL-17 and some IFNg CL:0002128 PMID:19201830 increased frequency of B cell apoptosis that occurs upon engagement of either the B cell receptor or CD40, but not both; the engagement leads to expression of fas or related receptors that make the B cell susceptible to fas-ligand mediated death csmith 2010-10-20T11:53:52Z increased AICD increased antigen-driven apoptosis GO:0071948 increased activated B cell apoptosis increased activation-induced B-cell apoptosis increased activation-induced cell death of B cells increased activation-induced cell death of B lymphocytes increased activation-induced cell death of B-cells increased activation-induced cell death of B-lymphocytes MPheno.ontology MP:0010674 increased activation-induced B cell apoptosis MP:0010674 increased frequency of B cell apoptosis that occurs upon engagement of either the B cell receptor or CD40, but not both; the engagement leads to expression of fas or related receptors that make the B cell susceptible to fas-ligand mediated death PMID:11032170 decreased frequency of B cell apoptosis that occurs upon engagement of either the B cell receptor or CD40, but not both; the engagement leads to expression of fas or related receptors that make the B cell susceptible to fas-ligand mediated death csmith 2010-10-20T11:53:52Z decreased AICD decreased antigen-driven apoptosis reduced AICD reduced antigen-driven apoptosis GO:0071948 decreased activated B cell apoptosis decreased activation-induced B-cell apoptosis decreased activation-induced cell death of B cells decreased activation-induced cell death of B lymphocytes decreased activation-induced cell death of B-cells decreased activation-induced cell death of B-lymphocytes reduced activated B cell apoptosis reduced activation-induced B cell apoptosis reduced activation-induced B-cell apoptosis reduced activation-induced cell death of B cells reduced activation-induced cell death of B lymphocytes reduced activation-induced cell death of B-cells reduced activation-induced cell death of B-lymphocytes MPheno.ontology MP:0010675 decreased activation-induced B cell apoptosis MP:0010675 decreased frequency of B cell apoptosis that occurs upon engagement of either the B cell receptor or CD40, but not both; the engagement leads to expression of fas or related receptors that make the B cell susceptible to fas-ligand mediated death PMID:11032170 increased frequency of the type of T cell apoptosis that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen and is triggered by T cell receptor stimulation and signals transmitted via various surface-expressed members of the TNF receptor family such as Fas ligand, Fas, and TNF and the p55 and p75 TNF receptors csmith 2010-10-20T11:55:01Z increased AICD increased antigen-driven apoptosis GO:0006924 increased activated T cell apoptosis increased activation-induced cell death of T lymphocytes increased activation-induced cell death of T-cells increased activation-induced cell death of T-lymphocytes MPheno.ontology MP:0010676 increased activation-induced cell death of T cells MP:0010676 increased frequency of the type of T cell apoptosis that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen and is triggered by T cell receptor stimulation and signals transmitted via various surface-expressed members of the TNF receptor family such as Fas ligand, Fas, and TNF and the p55 and p75 TNF receptors PMID:12752672 decreased frequency of the type of T cell apoptosis that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen and is triggered by T cell receptor stimulation and signals transmitted via various surface-expressed members of the TNF receptor family such as Fas ligand, Fas, and TNF and the p55 and p75 TNF receptors csmith 2010-10-20T11:55:01Z decreased AICD decreased antigen-driven apoptosis reduced AICD reduced antigen-driven apoptosis GO:0006924 decreased activated T cell apoptosis decreased activation-induced cell death of T lymphocytes decreased activation-induced cell death of T-cells decreased activation-induced cell death of T-lymphocytes reduced activated T cell apoptosis reduced activation-induced cell death of T cells reduced activation-induced cell death of T lymphocytes reduced activation-induced cell death of T-cells reduced activation-induced cell death of T-lymphocytes MPheno.ontology MP:0010677 decreased activation-induced cell death of T cells MP:0010677 decreased frequency of the type of T cell apoptosis that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen and is triggered by T cell receptor stimulation and signals transmitted via various surface-expressed members of the TNF receptor family such as Fas ligand, Fas, and TNF and the p55 and p75 TNF receptors PMID:12752672 any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails csmith 2010-10-20T12:27:31Z abnormal skin accessory structure morphology abnormal skin appendage morphology MPheno.ontology MP:0010678 abnormal skin adnexa morphology MP:0010678 any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails https://orcid.org/0000-0003-3691-0324 any structural anomaly of the bundles of smooth muscle fibers that connect the hair follicle with the papillary layer of the dermis, and serve to pull hair shafts erect csmith 2010-10-20T12:37:40Z abnormal arrector mucle of hair abnormal errector muscle of hair abnormal errector pilli muscle MPheno.ontology MP:0010679 abnormal arrector pilli muscle morphology MP:0010679 any structural anomaly of the bundles of smooth muscle fibers that connect the hair follicle with the papillary layer of the dermis, and serve to pull hair shafts erect PMID:19211055 any functional anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails csmith 2010-10-20T12:45:35Z abnormal skin accessory structure physiology abnormal skin appendage physiology MPheno.ontology MP:0010680 abnormal skin adnexa physiology MP:0010680 any functional anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails https://orcid.org/0000-0003-3691-0324 any structural anomaly of the thickened portion of the proximal portion of the hair follicle that contains rapidly proliferating matrix cells, melanocytes and outer root sheath cells csmith 2010-10-20T12:58:46Z MPheno.ontology MP:0010681 abnormal hair follicle bulb morphology MP:0010681 any structural anomaly of the thickened portion of the proximal portion of the hair follicle that contains rapidly proliferating matrix cells, melanocytes and outer root sheath cells PMID:19211055 any structural anomaly of the most proximal part of the hair follicle relative to the epidermis, extending from the sebaceous duct to the epidermal surface csmith 2010-10-20T01:04:57Z abnormal dermal pilary canal morphology abnormal dermal piliary canal morphology abnormal hair follicle upper segment morphology MPheno.ontology MP:0010682 abnormal hair follicle infundibulum morphology MP:0010682 any structural anomaly of the most proximal part of the hair follicle relative to the epidermis, extending from the sebaceous duct to the epidermal surface PMID:19211055 abnormal dermal pilary canal morphology PMID:20882038 PMID:29056331 abnormal dermal piliary canal morphology UBERON:0005968 the luminal space of one or more hair follicle infundibuli is increased in volume or area, sometimes with an increase of contained fluid or sebum csmith 2010-10-20T01:06:46Z dermal pilary canal dilation dermal piliary canal dilation dilated dermal pilary canal dilated dermal pilary canals dilated dermal piliary canal dilated dermal piliary canals dilated hair follicle infundibuli hair follicle infundibulum dilation MPheno.ontology MP:0010683 dilated hair follicle infundibulum MP:0010683 the luminal space of one or more hair follicle infundibuli is increased in volume or area, sometimes with an increase of contained fluid or sebum https://orcid.org/0000-0003-3691-0324 any structural anomaly of the outermost layer of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb csmith 2010-10-20T01:25:08Z abnormal hair follicle epidermal root sheath morphology MPheno.ontology MP:0010684 abnormal hair follicle outer root sheath morphology MP:0010684 any structural anomaly of the outermost layer of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb PMID:19211055 any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer and the inner root sheath cuticle csmith 2010-10-20T01:25:34Z MPheno.ontology MP:0010685 abnormal hair follicle inner root sheath morphology MP:0010685 any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer and the inner root sheath cuticle PMID:19211055 any structural anomaly of the bulb region adjacent to the dermal papilla that contains rapidly proliferating matrix cells that give rise to the various cell lineages of the hair shaft and inner root sheath csmith 2010-10-20T01:29:34Z MPheno.ontology MP:0010686 abnormal hair follicle matrix region morphology MP:0010686 any structural anomaly of the bulb region adjacent to the dermal papilla that contains rapidly proliferating matrix cells that give rise to the various cell lineages of the hair shaft and inner root sheath PMID:19211055 absence of the mesodermal signaling center of the hair follicle consisting of closely packed specialized mesenchymal fibroblasts csmith 2010-10-20T02:43:06Z MPheno.ontology MP:0010687 absent hair follicle dermal papilla MP:0010687 absence of the mesodermal signaling center of the hair follicle consisting of closely packed specialized mesenchymal fibroblasts PMID:19211055 increase in the number of normal cells in normal arrangement in the hair follicle outer root sheath, typically resulting in increased size csmith 2010-10-20T03:16:08Z hair follicle epidermal root sheath hyperplasia hyperplastic hair follicle outer root sheath MPheno.ontology MP:0010688 hair follicle outer root sheath hyperplasia MP:0010688 increase in the number of normal cells in normal arrangement in the hair follicle outer root sheath, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 reduced thickness of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb csmith 2010-10-20T03:16:57Z thin hair follicle epidermal root sheath MPheno.ontology MP:0010689 thin hair follicle outer root sheath MP:0010689 reduced thickness of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb https://orcid.org/0000-0003-3691-0324 increased thickness of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb csmith 2010-10-20T03:16:57Z thick hair follicle epidermal root sheath MPheno.ontology MP:0010690 thick hair follicle outer root sheath MP:0010690 increased thickness of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the hair follicle inner root sheath, typically resulting in increased size csmith 2010-10-20T03:17:44Z hyperplastic hait follicle inner root sheath MPheno.ontology MP:0010691 hair follicle inner root sheath hyperplasia MP:0010691 increase in the number of normal cells in normal arrangement in the hair follicle inner root sheath, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 increased thickness of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath csmith 2010-10-20T03:17:44Z MPheno.ontology MP:0010692 thick hair follicle inner root sheath MP:0010692 increased thickness of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath https://orcid.org/0000-0003-3691-0324 reduced thickness of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath csmith 2010-10-20T03:17:44Z MPheno.ontology MP:0010693 thin hair follicle inner root sheath MP:0010693 reduced thickness of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath https://orcid.org/0000-0003-3691-0324 any structural anomaly of the middle part of the hair follicle that extends from the sebaceous duct to the bulge csmith 2010-10-20T03:23:41Z MPheno.ontology MP:0010694 abnormal hair follicle isthmus morphology MP:0010694 any structural anomaly of the middle part of the hair follicle that extends from the sebaceous duct to the bulge PMID:19211055 any anomaly in the process that modulates the force with which blood travels through the circulatory system, which is controlled by a balance of processes that increase pressure and decrease pressure csmith 2010-10-20T03:45:01Z abnormal blood pressure homeostasis abnormal control of blood pressure abnormal regulation of blood pressure MPheno.ontology MP:0010695 abnormal blood pressure regulation MP:0010695 any anomaly in the process that modulates the force with which blood travels through the circulatory system, which is controlled by a balance of processes that increase pressure and decrease pressure GO:0008217 the presence of abnormal red blood cells that have iron granule deposits that are not part of the hemoglobin csmith 2010-10-20T03:48:30Z MPheno.ontology MP:0010696 increased siderocyte number MP:0010696 the presence of abnormal red blood cells that have iron granule deposits that are not part of the hemoglobin https://orcid.org/0000-0003-3691-0324 anomaly in the process that modulates the force with which blood travels through the systemic arterial circulatory system csmith 2010-10-20T03:51:25Z MPheno.ontology MP:0010697 abnormal systemic arterial blood pressure regulation MP:0010697 anomaly in the process that modulates the force with which blood travels through the systemic arterial circulatory system GO:0003073 any anomaly in the ability of an individual to exert restraint over behavior csmith 2010-10-20T04:16:12Z abnormal impulsive behaviour control abnormal impulsivity behavioral disinhibition behavioural disinhibition MPheno.ontology MP:0010698 abnormal impulsive behavior control MP:0010698 any anomaly in the ability of an individual to exert restraint over behavior https://orcid.org/0000-0003-4606-0597 the luminal space of one or more of the hair follicles is increased in volume or area, sometimes with an increase of contained fluid or sebum csmith 2010-10-21T10:40:05Z MP:0000385 dilated hair follicles distended hair follicle distended hair follicles hair follicle dilation MPheno.ontology MP:0010699 dilated hair follicle MP:0010699 the luminal space of one or more of the hair follicles is increased in volume or area, sometimes with an increase of contained fluid or sebum https://orcid.org/0000-0003-3691-0324 distended hair follicle https://orcid.org/0000-0002-6490-7723 a dilated or widened hair follicle filled with keratin squamae (skin debris), bacteria, and/or sebum (oil) csmith 2010-10-21T10:55:28Z hair follicle comedones blackhead whitehead MPheno.ontology MP:0010700 hair follicle comedo MP:0010700 a dilated or widened hair follicle filled with keratin squamae (skin debris), bacteria, and/or sebum (oil) http://www.medterms.com the large protuberance that projects upward from the cervical axis (C2), around which the cervical atlas normally rotates, is instead fused to elements of the atlas; the odontoid process may or may not remain attached to the axis csmith 2010-10-22T11:38:18Z C1 anterior arch and dens fusion atlas and odontoid process fusion fused atlas and odontoid process fusion of AA and dens MPheno.ontology MP:0010701 fusion of atlas and odontoid process MP:0010701 the large protuberance that projects upward from the cervical axis (C2), around which the cervical atlas normally rotates, is instead fused to elements of the atlas; the odontoid process may or may not remain attached to the axis https://orcid.org/0000-0003-3691-0324 the first (topmost, C1) cervical vertebra is divided into two branches by a median cleft csmith 2010-10-22T11:55:16Z C1 bifid bifid atlas MPheno.ontology MP:0010702 split cervical atlas MP:0010702 the first (topmost, C1) cervical vertebra is divided into two branches by a median cleft https://orcid.org/0000-0003-3691-0324 the second cervical vertebra (C2) is divided into two branches by a median cleft csmith 2010-10-22T11:57:04Z C2 bifid bifid axis MPheno.ontology MP:0010703 split cervical axis MP:0010703 the second cervical vertebra (C2) is divided into two branches by a median cleft https://orcid.org/0000-0003-3691-0324 any structural anomaly of the short canal through the orbitosphenoid bone at the apex of the orbit that gives passage to the optic nerve and the ophthalmic artery; the optic foramen is the opening to the optic canal csmith 2010-10-22T01:51:33Z abnormal optic foramen morphology MPheno.ontology MP:0010704 abnormal optic canal morphology MP:0010704 any structural anomaly of the short canal through the orbitosphenoid bone at the apex of the orbit that gives passage to the optic nerve and the ophthalmic artery; the optic foramen is the opening to the optic canal ISBN:0-683-40008-8 https://en.wikipedia.org/wiki/Optic_canal absence of the posterior border of the optic nerve foramen csmith 2010-10-22T02:05:04Z agenesis of the metoptic pilar metoptic pilar agenesis MPheno.ontology MP:0010705 absent metoptic pillar MP:0010705 absence of the posterior border of the optic nerve foramen PMID:11493527 a circular shift toward the ventral pole in the position of the equator of the lens relative to the optic nerve exit point csmith 2010-10-22T02:17:27Z MPheno.ontology MP:0010706 ventral rotation of lens MP:0010706 a circular shift toward the ventral pole in the position of the equator of the lens relative to the optic nerve exit point PMID:7923367 decreasd size of the ventral portion of the retina csmith 2010-10-22T02:31:14Z short ventral retina small ventral retina MPheno.ontology MP:0010707 decreased ventral retina size MP:0010707 decreasd size of the ventral portion of the retina PMID:7923367 https://orcid.org/0000-0003-3691-0324 absence of the lamellated vascular connective tissue of the iris csmith 2010-10-22T03:02:33Z agenesis of iris stroma iris stroma agenesis MPheno.ontology MP:0010708 absent iris stroma MP:0010708 absence of the lamellated vascular connective tissue of the iris ISBN:0-683-40008-8 absence of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens csmith 2010-10-22T03:03:52Z MPheno.ontology MP:0010709 absent eye anterior chamber MP:0010709 absence of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens MESH:A09.371.060.067 absence of the fibrous, outer envelope of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea csmith 2010-10-22T03:05:29Z absent sclerotic coat absent tunica sclerotica agenesis of the sclera sclera agenesis MPheno.ontology MP:0010710 absent sclera MP:0010710 absence of the fibrous, outer envelope of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea MESH:A09.371.784 persistence of the embryonic fibrovascular mesodermal tissue located between the optic cup and lens vesicle that normally regresses during the development of the vitreous body csmith 2010-10-22T03:09:04Z persistent hyperplasia of primary vitreous retrolenticular membrane MPheno.ontology PHPV MP:0010711 persistent hyperplastic primary vitreous MP:0010711 persistence of the embryonic fibrovascular mesodermal tissue located between the optic cup and lens vesicle that normally regresses during the development of the vitreous body https://orcid.org/0000-0003-3691-0324 absence of the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity csmith 2010-10-22T03:26:40Z absent nasal duct absent naso-lacrimal duct MPheno.ontology MP:0010712 absent nasolacrimal duct MP:0010712 absence of the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity ISBN:0-683-40008-8 persistent central adhesion between the lens and the cornea csmith 2010-10-22T03:31:39Z central corneal adhesion to lens corneal-lens adhesions MPheno.ontology MP:0010713 corneal-lenticular stalk MP:0010713 persistent central adhesion between the lens and the cornea PMID:18653562 congenital defect of the iris in which some part of the structure is absent csmith 2010-10-22T03:42:03Z coloboma iridis coloboma of the iris iridodiastasis MPheno.ontology MP:0010714 iris coloboma MP:0010714 congenital defect of the iris in which some part of the structure is absent https://orcid.org/0000-0003-3691-0324 congenital defect of the retina in which some part of the structure is absent csmith 2010-10-22T03:43:32Z coloboma of the retina retinal coloboma MPheno.ontology MP:0010715 retina coloboma MP:0010715 congenital defect of the retina in which some part of the structure is absent https://orcid.org/0000-0003-3691-0324 congenital defect of the optic disk in which some part of the structure is absent csmith 2010-10-22T03:43:48Z ODC coloboma of the optic disc optic disc coloboma MPheno.ontology MP:0010716 optic disk coloboma MP:0010716 congenital defect of the optic disk in which some part of the structure is absent https://orcid.org/0000-0003-3691-0324 congenital defect of the optic nerve in which some part of the structure is absent csmith 2010-10-22T03:44:14Z coloboma of the optic nerve MPheno.ontology MP:0010717 optic nerve coloboma MP:0010717 congenital defect of the optic nerve in which some part of the structure is absent https://orcid.org/0000-0003-3691-0324 congenital defect of the choroid and retinal pigment epithelium in which some part of the structures are absent, exposing the sclera; the defect is usually situated below the optic disk in the region of fetal (choroid) fissure csmith 2010-10-22T03:45:03Z choroidal coloboma coloboma of the choroid MPheno.ontology MP:0010718 choroid coloboma MP:0010718 congenital defect of the choroid and retinal pigment epithelium in which some part of the structures are absent, exposing the sclera; the defect is usually situated below the optic disk in the region of fetal (choroid) fissure ISBN:0-683-40008-8 congenital defect of the ciliary body in which some part of the structure is absent csmith 2010-10-22T03:59:36Z coloboma of the ciliary body MPheno.ontology MP:0010719 ciliary body coloboma MP:0010719 congenital defect of the ciliary body in which some part of the structure is absent https://orcid.org/0000-0003-3691-0324 absence of the canals that drain the sublingual gland csmith 2010-10-22T04:07:46Z sublingual duct agenesis MPheno.ontology agenesis of sublingual duct MP:0010720 absent sublingual duct MP:0010720 absence of the canals that drain the sublingual gland https://orcid.org/0000-0003-3691-0324 decreased length of the canals that drain the sublingual gland csmith 2010-10-22T04:09:06Z decreased sublingual gland length MPheno.ontology MP:0010721 short sublingual duct MP:0010721 decreased length of the canals that drain the sublingual gland https://orcid.org/0000-0003-3691-0324 the solid lobe of the thymus fails to descend to the mediastinum csmith 2010-10-22T04:12:07Z undescended cervical thymus MPheno.ontology remnant cervical thymus MP:0010722 persistent cervical thymus MP:0010722 the solid lobe of the thymus fails to descend to the mediastinum https://orcid.org/0000-0003-3691-0324 expression of a phenotypic trait in a male animal's offspring that is dependent on the paternal genotype csmith 2010-10-26T09:36:27Z MPheno.ontology MP:0010723 Temporary. This is a term that describes the expression of a phenotype, not the phenotype itself. paternal effect MP:0010723 expression of a phenotypic trait in a male animal's offspring that is dependent on the paternal genotype MGI:llw2 increased thickness of the wall between the two lower chambers of the heart csmith 2010-10-26T01:11:57Z MPheno.ontology MP:0010724 thick interventricular septum MP:0010724 increased thickness of the wall between the two lower chambers of the heart https://orcid.org/0000-0003-3691-0324 decreased thickness of the wall between the two lower chambers of the heart csmith 2010-10-26T01:12:13Z MPheno.ontology MP:0010725 thin interventricular septum MP:0010725 decreased thickness of the wall between the two lower chambers of the heart https://orcid.org/0000-0003-3691-0324 aberrant response of a neuron to form new neuritic processes (sprouts) that emerge from the nerve fibers or terminal arborizations in response to nerve injury (such as section or denervation), application of neurotoxin, or target tissue atrophy (usually due to disease) csmith 2010-11-02T10:06:03Z MPheno.ontology abnormal neuron collateral sprouting MP:0010726 abnormal collateral sprouting MP:0010726 aberrant response of a neuron to form new neuritic processes (sprouts) that emerge from the nerve fibers or terminal arborizations in response to nerve injury (such as section or denervation), application of neurotoxin, or target tissue atrophy (usually due to disease) https://orcid.org/0000-0003-3691-0324 greater than the expected number of a fast-growing type of central nervous system tumor that forms from glial tissue of the brain and spinal cord and has cells that look very different from normal cells; glioblastoma usually occurs in adults and affects the brain more often than the spinal cord csmith 2010-11-03T01:21:12Z increased grade IV astrocytoma incidence increased GBM incidence increased glioblastoma multiforme incidence MPheno.ontology MP:0010727 increased glioblastoma incidence MP:0010727 greater than the expected number of a fast-growing type of central nervous system tumor that forms from glial tissue of the brain and spinal cord and has cells that look very different from normal cells; glioblastoma usually occurs in adults and affects the brain more often than the spinal cord NCI:CDRID45698 union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure csmith 2010-11-08T12:22:15Z atlas and occipital bone fusion fused atlas and occipital bones MPheno.ontology MP:0010728 fusion of atlas and occipital bones MP:0010728 union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure https://orcid.org/0000-0003-3691-0324 absence of the arch that connects the lateral masses of the atlas anteriorly and articulates with the anterior articular facet of the dens of the axis csmith 2010-11-08T12:30:26Z absent anterior arch absent arcus anterior atlantis MPheno.ontology MP:0010729 absent arcus anterior MP:0010729 absence of the arch that connects the lateral masses of the atlas anteriorly and articulates with the anterior articular facet of the dens of the axis ISBN:0-683-40008-8 MGI:llw2 absence of the large protuberance that projects upward from the cervical axis, around which the cervical atlas rotates csmith 2010-11-08T02:20:56Z MPheno.ontology MP:0010730 absent odontoid process MP:0010730 absence of the large protuberance that projects upward from the cervical axis, around which the cervical atlas rotates ISBN:0-683-40008-8 absence of the conical ventral projection on the arch of the atlas csmith 2010-11-08T02:27:23Z MPheno.ontology MP:0010731 absent ventral tubercle of atlas MP:0010731 absence of the conical ventral projection on the arch of the atlas https://orcid.org/0000-0003-3691-0324 any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon csmith 2010-11-09T01:51:31Z abnormal node MPheno.ontology MP:0010732 abnormal node of Ranvier morphology MP:0010732 any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon PMID:18929652 any structural anomaly of the short unmyelinated axon segment adjacent to the cell soma where voltage gated channels accumulate and axon potential initiation usually occurs csmith 2010-11-09T01:55:49Z abnormal AIS morphology MPheno.ontology MP:0010733 abnormal axon initial segment morphology MP:0010733 any structural anomaly of the short unmyelinated axon segment adjacent to the cell soma where voltage gated channels accumulate and axon potential initiation usually occurs PMID:18929652 any structural anomaly of the axon region immediately adjacent to nodes of Ranvier, where a series of cytoplasmic loops from the overlying glial cell form septate-like junctions with the axon; the axoglial junctions act as a diffusion barrier between the node and internode csmith 2010-11-09T01:55:49Z abnormal axon paranodal region morphology abnormal axon paranode morphology MPheno.ontology MP:0010734 abnormal paranode morphology MP:0010734 any structural anomaly of the axon region immediately adjacent to nodes of Ranvier, where a series of cytoplasmic loops from the overlying glial cell form septate-like junctions with the axon; the axoglial junctions act as a diffusion barrier between the node and internode PMID:16224497 any structural anomaly of the structure in which the myelin sheath attaches to the axon at each end of each myelin segment; the axoglial junctions act as a diffusion barrier between the node and internode, maintaining domain-specific axolemmal membrane components csmith 2010-11-09T01:55:49Z abnormal PNJ abnormal axoglial septate junction abnormal paranodal septate junction morphology MPheno.ontology MP:0010735 abnormal paranodal axoglial junction morphology MP:0010735 any structural anomaly of the structure in which the myelin sheath attaches to the axon at each end of each myelin segment; the axoglial junctions act as a diffusion barrier between the node and internode, maintaining domain-specific axolemmal membrane components PMID:19224642 any structural anomaly of the layer of the ectoderm of the extraembryonic tissue csmith 2010-11-09T04:26:12Z MPheno.ontology MP:0010736 abnormal extraembryonic ectoderm morphology MP:0010736 any structural anomaly of the layer of the ectoderm of the extraembryonic tissue https://orcid.org/0000-0003-4606-0597 any structural anomaly of the region of an axon near a node of Ranvier that is between the paranode axoglial junction and the internode regions; the juxtaparanode axolemma is enriched in potassium channels csmith 2010-11-10T10:50:26Z abnormal juxtaparanodal region morphology MPheno.ontology MP:0010737 abnormal juxtaparanode morphology MP:0010737 any structural anomaly of the region of an axon near a node of Ranvier that is between the paranode axoglial junction and the internode regions; the juxtaparanode axolemma is enriched in potassium channels PMID:18803321 any structural anomaly of the intervening axon segment that is located between the juxtaparanodes and is surrounded by a single compact myelin sheath csmith 2010-11-10T10:50:49Z MPheno.ontology MP:0010738 abnormal internode morphology MP:0010738 any structural anomaly of the intervening axon segment that is located between the juxtaparanodes and is surrounded by a single compact myelin sheath PMID:18929652 any structural anomaly of the plasma membrane of an axon csmith 2010-11-10T12:00:22Z abnormal Mauthner sheath morphology abnormal axon plasma membrane morphology abnormal axonal membrane morphology MPheno.ontology MP:0010739 abnormal axolemma morphology MP:0010739 any structural anomaly of the plasma membrane of an axon ISBN:0-683-40008-8 anomaly in the movement of a dendritic cell in response to an external stimulus csmith 2010-11-11T03:24:21Z MPheno.ontology MP:0010740 abnormal dendritic cell chemotaxis MP:0010740 anomaly in the movement of a dendritic cell in response to an external stimulus GO:0002407 anomaly in the ability of a melanocyte cell population to undergo expansion by cell division csmith 2010-11-11T03:57:15Z MPheno.ontology MP:0010741 abnormal melanocyte proliferation MP:0010741 anomaly in the ability of a melanocyte cell population to undergo expansion by cell division https://orcid.org/0000-0003-3691-0324 greater than normal number of cells that sheath the axons of the peripheral nervous system csmith 2010-11-11T04:01:57Z MPheno.ontology MP:0010742 increased Schwann cell number MP:0010742 greater than normal number of cells that sheath the axons of the peripheral nervous system https://orcid.org/0000-0003-3691-0324 late onset of closure of one or more of the joints (sutures) between the bones of the skull csmith 2010-11-11T04:04:28Z delayed fusion of cranial sutures delayed suture closure MPheno.ontology MP:0010743 delayed cranial suture closure MP:0010743 late onset of closure of one or more of the joints (sutures) between the bones of the skull https://orcid.org/0000-0002-6490-7723 any structural anomaly in the ventrally concave flexure of the embryonic brain occurring at the junction of hindbrain and spinal cord csmith 2010-11-11T04:07:32Z MPheno.ontology MP:0010744 abnormal cervical flexure morphology MP:0010744 any structural anomaly in the ventrally concave flexure of the embryonic brain occurring at the junction of hindbrain and spinal cord ISBN:0-12-402035-6 any structural anomaly of the group of interneurons within the medulla oblongata's ventral respiratory group that are important for the generation of ventilatory (inspiratory) rhythmogenesis csmith 2010-11-11T04:23:51Z MPheno.ontology MP:0010745 abnormal pre-Botzinger complex morphology MP:0010745 any structural anomaly of the group of interneurons within the medulla oblongata's ventral respiratory group that are important for the generation of ventilatory (inspiratory) rhythmogenesis PMID:18826652 any functional anomaly of the group of interneurons within the medulla oblongata's ventral respiratory group that are important for the generation of ventilatory (inspiratory) rhythmogenesis csmith 2010-11-11T04:36:35Z MPheno.ontology MP:0010746 abnormal pre-Botzinger complex physiology MP:0010746 any functional anomaly of the group of interneurons within the medulla oblongata's ventral respiratory group that are important for the generation of ventilatory (inspiratory) rhythmogenesis PMID:18826652 any structural anomaly of the circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth csmith 2010-11-12T03:15:22Z abnormal dental organ morphology MPheno.ontology MP:0010747 abnormal enamel organ morphology MP:0010747 any structural anomaly of the circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth ISBN:0-683-40008-8 anomaly in the electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; may be used to evaluate optic nerve damage or visual perception csmith 2010-11-12T03:55:48Z abnormal vision evoked potentials abnormal visual evoked response abnormal visually evoked potential MPheno.ontology MP:0010748 abnormal visual evoked potential MP:0010748 anomaly in the electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; may be used to evaluate optic nerve damage or visual perception ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 absence of a characteristic electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; absence may indicate blindness csmith 2010-11-12T03:57:03Z absent vision evoked potentials absent visual evoked response absent visually evoked potential MPheno.ontology MP:0010749 absent visual evoked potential MP:0010749 absence of a characteristic electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; absence may indicate blindness ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 increased likelihood that an organism will display the expected moribund state caused by a parasitic invasion or from components of or toxins produced by parasites csmith 2010-11-12T04:06:04Z decreased resistance to parasitic infection induced morbidity/mortality increased sensitivity to parasitic infection induced morbidity/mortality increased susceptibility to parasite infection induced morbidity/mortality MPheno.ontology MP:0010750 increased susceptibility to parasitic infection induced morbidity/mortality MP:0010750 increased likelihood that an organism will display the expected moribund state caused by a parasitic invasion or from components of or toxins produced by parasites https://orcid.org/0000-0003-4606-0597 decreased likelihood that an organism will display the expected moribund state caused by a parasitic invasion or from components of or toxins produced by parasites csmith 2010-11-12T04:07:02Z decreased sensitivity to parasitic infection induced morbidity/mortality decreased susceptibility to parasite infection induced morbidity/mortality increased resistance to parasitic infection induced morbidity/mortality MPheno.ontology MP:0010751 decreased susceptibility to parasitic infection induced morbidity/mortality MP:0010751 decreased likelihood that an organism will display the expected moribund state caused by a parasitic invasion or from components of or toxins produced by parasites https://orcid.org/0000-0003-4606-0597 reduced ability to remove mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands csmith 2010-12-09T11:40:59Z MPheno.ontology MP:0010752 impaired mucociliary clearance MP:0010752 reduced ability to remove mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands MESH:E01.370.386.520 https://orcid.org/0000-0003-3691-0324 enhanced ability to remove mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands csmith 2010-12-09T11:41:22Z MPheno.ontology MP:0010753 improved mucociliary clearance MP:0010753 enhanced ability to remove mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands MESH:E01.370.386.520 https://orcid.org/0000-0003-3691-0324 any anomaly in the pressure within the left cardiac ventricle csmith 2010-12-09T01:21:58Z abnormal heart left ventricular pressure MPheno.ontology MP:0010754 abnormal heart left ventricle pressure MP:0010754 any anomaly in the pressure within the left cardiac ventricle https://orcid.org/0000-0003-3691-0324 any anomaly in the pressure within the right cardiac ventricle csmith 2010-12-09T01:23:06Z abnormal heart right ventricular pressure MPheno.ontology MP:0010755 abnormal heart right ventricle pressure MP:0010755 any anomaly in the pressure within the right cardiac ventricle https://orcid.org/0000-0003-3691-0324 decrease in the difference between right ventricular systolic and diastolic pressures csmith 2010-12-09T01:45:04Z decreased right ventricular peak pressure reduced right ventricle peak pressure MPheno.ontology MP:0010756 decreased right ventricle peak pressure MP:0010756 decrease in the difference between right ventricular systolic and diastolic pressures https://orcid.org/0000-0003-3691-0324 decrease in the pressure of the right ventricle between heart beats when the heart is relaxed csmith 2010-12-09T01:45:04Z decreased RVP decreased right ventricular diastolic pressure reduced right ventricle diastolic pressure MPheno.ontology MP:0010757 decreased right ventricle diastolic pressure MP:0010757 decrease in the pressure of the right ventricle between heart beats when the heart is relaxed https://orcid.org/0000-0003-3691-0324 increase in the pressure in the right ventricle as the heart contracts and pumps blood into the arteries csmith 2010-12-09T01:45:04Z increased right ventricular systolic pressure MPheno.ontology MP:0010758 increased right ventricle systolic pressure MP:0010758 increase in the pressure in the right ventricle as the heart contracts and pumps blood into the arteries https://orcid.org/0000-0003-3691-0324 decrease in the pressure in the right ventricle as the heart contracts and pumps blood into the arteries csmith 2010-12-09T01:45:04Z decreased right ventricular systolic pressure reduced right ventricle systolic pressure MPheno.ontology MP:0010759 decreased right ventricle systolic pressure MP:0010759 decrease in the pressure in the right ventricle as the heart contracts and pumps blood into the arteries https://orcid.org/0000-0003-3691-0324 anomaly in the accumulation of macrophages in a specific location in response to a wide variety of substances released at the sites of inflammatory reactions csmith 2010-12-09T02:44:10Z MP:0005495 abnormal macrophage recruitment MPheno.ontology abnormal macrophage migration MP:0010760 abnormal macrophage chemotaxis MP:0010760 anomaly in the accumulation of macrophages in a specific location in response to a wide variety of substances released at the sites of inflammatory reactions GO:0048246 anomaly in the movement of a microglial cell guided by a specific chemical concentration gradient csmith 2010-12-09T02:46:55Z abnormal microglial cell migration abnormal microglial cell recruitment MPheno.ontology MP:0010761 abnormal microglial cell chemotaxis MP:0010761 anomaly in the movement of a microglial cell guided by a specific chemical concentration gradient https://orcid.org/0000-0003-3691-0324 any anomaly in change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form csmith 2010-12-09T03:38:16Z MPheno.ontology MP:0010762 abnormal microglial cell activation MP:0010762 any anomaly in change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form GO:0001774 https://orcid.org/0000-0003-3691-0324 any functional anomaly of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages csmith 2010-12-09T03:49:30Z abnormal HSC physiology abnormal haematopoietic progenitor cell physiology abnormal haematopoietic stem cell physiology abnormal haemopoietic progenitor cell physiology abnormal hematopoietic progenitor cell physiology abnormal hemopoietic progenitor cell physiology MPheno.ontology MP:0010763 abnormal hematopoietic stem cell physiology MP:0010763 any functional anomaly of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages https://orcid.org/0000-0003-3691-0324 anomaly in the movement of a granulocyte guided by a specific chemical concentration gradient csmith 2010-12-10T09:48:29Z MPheno.ontology MP:0010764 abnormal granulocyte chemotaxis MP:0010764 anomaly in the movement of a granulocyte guided by a specific chemical concentration gradient https://orcid.org/0000-0003-3691-0324 reduced ability in the movement of a granulocyte guided by a specific chemical concentration gradient csmith 2010-12-10T09:59:45Z MP:0005073 impaired granulocyte migration defective granulocyte chemotaxis MPheno.ontology MP:0010765 impaired granulocyte chemotaxis MP:0010765 reduced ability in the movement of a granulocyte guided by a specific chemical concentration gradient https://orcid.org/0000-0003-3691-0324 any functional anomaly of a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells csmith 2010-12-10T11:34:06Z MP:0005069 CL:0000623 FMA:63147 FMA:83601 NK cell dysfunction abnormal natural killer cell physiology dysfunctional NK cells natural killer cell dysfunction MPheno.ontology MP:0010766 abnormal NK cell physiology MP:0010766 any functional anomaly of a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells GOC:add ISBN:0781735149 PMID:15771571 https://orcid.org/0000-0003-3691-0324 any anomaly in the process in which oocytes stop at the diplotene stage of meiosis I and lie dormant, often for long periods of time csmith 2010-12-10T02:07:10Z abnormal dictyotene stage MPheno.ontology MP:0010767 abnormal female meiosis I arrest MP:0010767 any anomaly in the process in which oocytes stop at the diplotene stage of meiosis I and lie dormant, often for long periods of time https://orcid.org/0000-0003-3691-0324 the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span csmith 2011-01-07T09:57:14Z MP:0005372 MP:0005373 MP:0005374 mortality/ageing lethality-embryonic/perinatal lethality-postnatal lethality-prenatal/perinatal life span-post-weaning/aging MPheno.ontology lifespan survival MP:0010768 mortality/aging MP:0010768 the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span https://orcid.org/0000-0003-3691-0324 deviation from the expected viability or life span of an organism csmith 2011-01-07T10:07:26Z lethality abnormal life span MPheno.ontology MP:0010769 abnormal survival MP:0010769 deviation from the expected viability or life span of an organism https://orcid.org/0000-0003-3691-0324 death anytime between fertilization and weaning age (Mus: approximately 3-4 weeks of age) csmith 2011-01-07T11:39:57Z MPheno.ontology MP:0010770 preweaning lethality MP:0010770 death anytime between fertilization and weaning age (Mus: approximately 3-4 weeks of age) https://orcid.org/0000-0002-8404-2907 the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan csmith 2011-01-11T12:31:48Z MP:0005392 MP:0005393 skin/coat/nails phenotype touch/vibrissae phenotype MPheno.ontology MP:0010771 integument phenotype MP:0010771 the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan https://orcid.org/0000-0003-3691-0324 any structural anomaly of the first or primary digit on the radial side of the hand csmith 2011-01-25T10:43:26Z abnormal digitus primus morphology abnormal thumb morphology MPheno.ontology MP:0010772 abnormal pollex morphology MP:0010772 any structural anomaly of the first or primary digit on the radial side of the hand ISBN:0-683-40008-8 increased number of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface csmith 2011-01-26T03:55:05Z increased molar number MPheno.ontology MP:0010773 supernumerary molars MP:0010773 increased number of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface MGI:llw2 any structural anomaly of the part of the secondary follicle in which naive B cells reside along with some helper T cells, macrophages and follicular dendritic cells; these are displaced by the expanding germinal centre and form a 'mantle' around it csmith 2011-01-27T11:51:22Z MA:0002990 abnormal lymph node follicular corona morphology MPheno.ontology MP:0010774 abnormal lymph node follicular mantle morphology MP:0010774 any structural anomaly of the part of the secondary follicle in which naive B cells reside along with some helper T cells, macrophages and follicular dendritic cells; these are displaced by the expanding germinal centre and form a 'mantle' around it PMID:11905817 any structural anomaly of the bone of the hand located at the radial side of the carpus and which articulates with the radius, trapezium, trapezoideum, capitate, and lunate bones csmith 2011-01-27T01:35:36Z MA:0002555 abnormal navicular of hand morphology abnormal radial carpal bone morphology MPheno.ontology MP:0010775 abnormal scaphoid morphology MP:0010775 any structural anomaly of the bone of the hand located at the radial side of the carpus and which articulates with the radius, trapezium, trapezoideum, capitate, and lunate bones MGI:llw2 any structural anomaly in the group of granular epithelial cells in the uterine muscle beneath the placenta that develops during pregnancy in rodents and some other species, but not in primates csmith 2011-01-27T02:26:18Z MA:0000386 abnormal granulated metrial gland abnormal placental metrial gland MPheno.ontology MP:0010776 abnormal placenta metrial gland morphology MP:0010776 any structural anomaly in the group of granular epithelial cells in the uterine muscle beneath the placenta that develops during pregnancy in rodents and some other species, but not in primates https://orcid.org/0000-0003-4606-0597 absence of the group of granular epithelial cells in the uterine muscle beneath the placenta that develops during pregnancy in rodents and some other species, but not in primates csmith 2011-01-27T02:45:02Z absent placental metrial gland MPheno.ontology MP:0010777 absent placenta metrial gland MP:0010777 absence of the group of granular epithelial cells in the uterine muscle beneath the placenta that develops during pregnancy in rodents and some other species, but not in primates https://orcid.org/0000-0003-4606-0597 any structural anomaly of the region of the stomach that lies above the cardiac notch that functions to store undigested food and to collect stomach gases produced by chemical digestion csmith 2011-02-08T10:58:04Z abnormal gastric fundus morphology abnormal stomach greater cul-de-sac morphology MPheno.ontology MP:0010778 abnormal stomach fundus morphology MP:0010778 any structural anomaly of the region of the stomach that lies above the cardiac notch that functions to store undigested food and to collect stomach gases produced by chemical digestion ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the smooth muscle layer of the stomach wall that functions to churn and mix food and gastric secretions as well as to move food along the digestive tract to the intestines csmith 2011-02-08T11:01:17Z abnormal stomach smooth muscle morphology abnormal gastric muscularis morphology abnormal gastric smooth muscle morphology abnormal muscularis externa morphology MPheno.ontology MP:0010779 abnormal stomach muscularis externa morphology MP:0010779 any structural anomaly of the smooth muscle layer of the stomach wall that functions to churn and mix food and gastric secretions as well as to move food along the digestive tract to the intestines https://orcid.org/0000-0003-3691-0324 any structural anomaly of the middle layer of the muscularis; it is continuous with the circular layer of the esophagus, but is absent in the fundus and lies concentric to the longitudinal axis of the stomach; the circular layer is normally tonically constricted forming a functional pyloric sphincter, which controls the movement of chyme into the duodenum csmith 2011-02-08T11:01:35Z MPheno.ontology MP:0010780 abnormal stomach smooth muscle circular layer morphology MP:0010780 any structural anomaly of the middle layer of the muscularis; it is continuous with the circular layer of the esophagus, but is absent in the fundus and lies concentric to the longitudinal axis of the stomach; the circular layer is normally tonically constricted forming a functional pyloric sphincter, which controls the movement of chyme into the duodenum https://orcid.org/0000-0003-3691-0324 increase in the bulk size of the thick circular layer of gastric musculature encircling the gastroduodenal junction at the gastric outlet of the stomach, due to cell enlargement or accumulation of fluids csmith 2011-02-08T11:03:42Z MPheno.ontology MP:0010781 pyloric sphincter hypertrophy MP:0010781 increase in the bulk size of the thick circular layer of gastric musculature encircling the gastroduodenal junction at the gastric outlet of the stomach, due to cell enlargement or accumulation of fluids ISBN:0-683-40008-8 increase in the bulk size of the middle layer of the muscularis due to cell enlargement or accumulation of fluids csmith 2011-02-08T11:04:16Z MPheno.ontology MP:0010782 stomach smooth muscle circular layer hypertrophy MP:0010782 increase in the bulk size of the middle layer of the muscularis due to cell enlargement or accumulation of fluids https://orcid.org/0000-0003-3691-0324 any structural anomaly of the layered structure that makes up the stomach, consisting of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between csmith 2011-02-08T11:04:49Z MPheno.ontology MP:0010783 abnormal stomach wall morphology MP:0010783 any structural anomaly of the layered structure that makes up the stomach, consisting of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between https://orcid.org/0000-0003-3691-0324 any structural anomaly of the distinct rodent non-glandular region of the stomach which is demarcated from the glandular stomach by the limiting ridge (margo plicatus); the forestomach accounts for about 60% (rat) and 70% (mouse) of the stomach volume and receives the esophagus at the cardiac antrum; the wall of the forestomach consists of, from inside to outside, stratified squamous epithelium, the lamina propria (epithelium and lamina propria form the mucosa), the muscularis mucosae, the submucosa, the muscularis interna and externa (inner circular and outer longitudinal layers of smooth muscle), and the serosa csmith 2011-02-08T11:05:59Z abnormal anterior stomach morphology abnormal antrum cardiacum morphology abnormal non-glandular stomach morphology abnormal proximal stomach morphology abnormal stomach cardiac antrum morphology abnormal stomach non-glandular region morphology MPheno.ontology MP:0010784 The forestomach is not present in humans. abnormal forestomach morphology MP:0010784 any structural anomaly of the distinct rodent non-glandular region of the stomach which is demarcated from the glandular stomach by the limiting ridge (margo plicatus); the forestomach accounts for about 60% (rat) and 70% (mouse) of the stomach volume and receives the esophagus at the cardiac antrum; the wall of the forestomach consists of, from inside to outside, stratified squamous epithelium, the lamina propria (epithelium and lamina propria form the mucosa), the muscularis mucosae, the submucosa, the muscularis interna and externa (inner circular and outer longitudinal layers of smooth muscle), and the serosa ISBN:0849366887 http://ctrgenpath.net/static/atlas/mousehistology/Windows/digestive/forestomach.html https://orcid.org/0000-0002-6490-7723 any structural anomaly of the stomach tissue region surrounding and controlling the distal outlet of the stomach, which opens into the duodenum csmith 2011-02-08T11:06:53Z MPheno.ontology abnormal stomach pylorus morphology MP:0010785 abnormal stomach pyloric region morphology MP:0010785 any structural anomaly of the stomach tissue region surrounding and controlling the distal outlet of the stomach, which opens into the duodenum https://orcid.org/0000-0003-3691-0324 increase in the bulk size of the stomach fundus due to cell enlargement or accumulation of fluids csmith 2011-02-08T11:09:14Z gastric fundus hypertrophy MPheno.ontology MP:0010786 stomach fundus hypertrophy MP:0010786 increase in the bulk size of the stomach fundus due to cell enlargement or accumulation of fluids https://orcid.org/0000-0003-3691-0324 presence of one or more abnormal membranous sacs in the wall of the stomach csmith 2011-02-08T11:10:04Z cystic stomach gastric cysts stomach cyst stomach cysts MPheno.ontology MP:0010787 gastric cyst MP:0010787 presence of one or more abnormal membranous sacs in the wall of the stomach https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the stomach, typically resulting in decreased size csmith 2011-02-08T11:11:03Z gastric hypoplasia hypoplastic stomach MPheno.ontology MP:0010788 stomach hypoplasia MP:0010788 decrease in the number of normal cells in normal arrangement in the stomach, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 any structural anomaly of the double layer of peritoneum that encloses the stomach and connects it to the abdominal wall csmith 2011-02-08T11:14:24Z abnormal mesogastrium morphology MPheno.ontology MP:0010789 abnormal stomach mesentery morphology MP:0010789 any structural anomaly of the double layer of peritoneum that encloses the stomach and connects it to the abdominal wall https://orcid.org/0000-0003-3691-0324 any structural anomaly of the area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells csmith 2011-02-08T11:35:02Z abnormal stomach lesser cul-de-sac morphology MPheno.ontology MP:0010790 abnormal stomach pyloric antrum morphology MP:0010790 any structural anomaly of the area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells ISBN:0-683-40008-8 any structural anomaly of the short narrow part of the stomach extending from the pyloric antrum to the pyloric sphincter csmith 2011-02-08T11:54:35Z MPheno.ontology MP:0010791 abnormal pyloric canal morphology MP:0010791 any structural anomaly of the short narrow part of the stomach extending from the pyloric antrum to the pyloric sphincter https://orcid.org/0000-0003-3691-0324 any structural anomaly of the mucous layer of the stomach wall which contains the gastric pits and glands, and consists of epithelium, lamina propria, and the muscularis mucosae csmith 2011-02-09T09:18:57Z MP:0005209 MA:0002683 abnormal gastric mucosa abnormal gastric mucosa morphology abnormal mucosa of stomach abnormal stomach mucus membrane morphology MPheno.ontology MP:0010792 abnormal stomach mucosa morphology MP:0010792 any structural anomaly of the mucous layer of the stomach wall which contains the gastric pits and glands, and consists of epithelium, lamina propria, and the muscularis mucosae https://orcid.org/0000-0003-3691-0324 any structural anomaly of the outermost layer of the stomach wall, consisting of layers of connective tissue continuous with the peritoneum csmith 2011-02-09T09:22:43Z abnormal gastric serosa morphology MPheno.ontology MP:0010793 abnormal stomach serosa morphology MP:0010793 any structural anomaly of the outermost layer of the stomach wall, consisting of layers of connective tissue continuous with the peritoneum https://orcid.org/0000-0003-3691-0324 any structural anomaly of the fibrous connective tissue layer beneath the stomach mucosa csmith 2011-02-09T09:22:59Z MPheno.ontology MP:0010794 abnormal stomach submucosa morphology MP:0010794 any structural anomaly of the fibrous connective tissue layer beneath the stomach mucosa https://orcid.org/0000-0003-3691-0324 any structural anomaly of the gastric glands in the cardiac region of the stomach; cardiac glands are fewer in number than in the fundus and body, and secrete mucin which coats the stomach and protects it csmith 2011-02-09T10:25:08Z abnormal cardiac glands of stomach morphology MPheno.ontology MP:0010795 abnormal cardiac gastric gland morphology MP:0010795 any structural anomaly of the gastric glands in the cardiac region of the stomach; cardiac glands are fewer in number than in the fundus and body, and secrete mucin which coats the stomach and protects it https://orcid.org/0000-0003-3691-0324 any structural anomaly of any of the branched tubular glands in the mucosa of the fundus and body of the stomach that secrete most of the digestive substances secreted by the stomach csmith 2011-02-09T10:25:38Z abnormal fundic gland morphology abnormal fundus gastric gland morphology abnormal stomach body gastric gland morphology MPheno.ontology MP:0010796 abnormal intermediate gastric gland morphology MP:0010796 any structural anomaly of any of the branched tubular glands in the mucosa of the fundus and body of the stomach that secrete most of the digestive substances secreted by the stomach ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin csmith 2011-02-09T10:26:01Z MPheno.ontology MP:0010797 abnormal pyloric gastric gland morphology MP:0010797 any structural anomaly of the gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin ISBN:0-683-40008-8 any structural anomaly of the stomach region where the esophagus empties into the stomach csmith 2011-02-09T10:26:48Z MPheno.ontology MP:0010798 abnormal stomach cardiac region morphology MP:0010798 any structural anomaly of the stomach region where the esophagus empties into the stomach https://orcid.org/0000-0003-3691-0324 increase in the number of normal cells in normal arrangement in the stomach mucosa, typically resulting in increased thickness csmith 2011-02-09T12:04:40Z hyperplastic stomach mucosa MPheno.ontology MP:0010799 stomach mucosa hyperplasia MP:0010799 increase in the number of normal cells in normal arrangement in the stomach mucosa, typically resulting in increased thickness https://orcid.org/0000-0003-3691-0324 any structural anomaly of the gangliated plexus of unmyelinated nerve fibers that ramify the stomach and intestinal submucosa csmith 2011-02-09T12:20:10Z abnormal Henle's plexus morphology abnormal Meissner's plexus morphology abnormal Remak plexus morphology abnormal submucosal plexus morphology MPheno.ontology MP:0010800 abnormal submucous nerve plexus morphology MP:0010800 any structural anomaly of the gangliated plexus of unmyelinated nerve fibers that ramify the stomach and intestinal submucosa ISBN:0-683-40008-8 any structural anomaly of the plexus of unmyelinated nerve fibers and postganglionic autonomic cell bodies lying in the muscular coat of the esophagus, stomach and intestines that communicate with the submucosal, subserosal and enteric plexuses csmith 2011-02-09T12:25:21Z abnormal Auerbach plexus morphology MPheno.ontology MP:0010801 abnormal myenteric nerve plexus morphology MP:0010801 any structural anomaly of the plexus of unmyelinated nerve fibers and postganglionic autonomic cell bodies lying in the muscular coat of the esophagus, stomach and intestines that communicate with the submucosal, subserosal and enteric plexuses ISBN:0-683-40008-8 any structural anomaly of the various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the intestinal tract csmith 2011-02-09T12:42:15Z abnormal intestinal L cell morphology abnormal intestinal S cell morphology abnormal intestinal secretin cell morphology MPheno.ontology MP:0010802 abnormal intestinal enteroendocrine cell morphology MP:0010802 any structural anomaly of the various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the intestinal tract https://orcid.org/0000-0003-3691-0324 any structural anomaly of the various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the stomach csmith 2011-02-09T12:49:48Z abnormal gastric enteroendocrine cell morphology MPheno.ontology MP:0010803 abnormal stomach enteroendocrine cell morphology MP:0010803 any structural anomaly of the various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the stomach https://orcid.org/0000-0003-3691-0324 any structural anomaly of the innermost layer of the muscularis; it is not present in all sections of the stomach but is clearly seen in the fundus and near the lesser curvature of the corpus; the oblique fibers disappear distally (towards the pyloric antrum); the oblique layer is responsible for creating the motion that churns and physically breaks down the food csmith 2011-02-09T01:24:37Z MPheno.ontology MP:0010804 abnormal stomach smooth muscle inner oblique layer morphology MP:0010804 any structural anomaly of the innermost layer of the muscularis; it is not present in all sections of the stomach but is clearly seen in the fundus and near the lesser curvature of the corpus; the oblique fibers disappear distally (towards the pyloric antrum); the oblique layer is responsible for creating the motion that churns and physically breaks down the food https://orcid.org/0000-0003-3691-0324 any structural anomaly of the most superficial layer of the muscularis; it has two sections, a longitudinal layer that is common with the esophagus and ends in the corpus, and a longitudinal layer that originates in the corpus and spreads into the duodenum csmith 2011-02-09T01:25:13Z MPheno.ontology MP:0010805 abnormal stomach smooth muscle outer longitudinal layer morphology MP:0010805 any structural anomaly of the most superficial layer of the muscularis; it has two sections, a longitudinal layer that is common with the esophagus and ends in the corpus, and a longitudinal layer that originates in the corpus and spreads into the duodenum https://orcid.org/0000-0003-3691-0324 any structural anomaly of the thin layer of smooth muscle in the mucosal layer of the stomach that functions to agitate the surface area stomach mucosa by moving the villi back and forth csmith 2011-02-09T01:39:38Z abnormal muscular layer of stomach mucosa MPheno.ontology MP:0010806 abnormal stomach muscularis mucosa morphology MP:0010806 any structural anomaly of the thin layer of smooth muscle in the mucosal layer of the stomach that functions to agitate the surface area stomach mucosa by moving the villi back and forth https://orcid.org/0000-0003-3691-0324 the stomach is displaced from the normal left-sided position and/or orientation csmith 2011-02-10T09:50:04Z MPheno.ontology MP:0010807 abnormal stomach position or orientation MP:0010807 the stomach is displaced from the normal left-sided position and/or orientation https://orcid.org/0000-0003-3691-0324 stomach is present on the right side of the body instead of the left csmith 2011-02-10T09:50:21Z dextrogastria MPheno.ontology MP:0010808 right-sided stomach MP:0010808 stomach is present on the right side of the body instead of the left https://orcid.org/0000-0003-3691-0324 any structural anomaly of the rounded, club-shaped, nonciliated cell protruding between ciliated cells in bronchiolar epithelium, believed to be secretory in function csmith 2011-02-11T02:04:24Z abnormal Clara cell morphology abnormal bronchiolar exocrine cell morphology MPheno.ontology MP:0010809 abnormal club cell morphology MP:0010809 any structural anomaly of the rounded, club-shaped, nonciliated cell protruding between ciliated cells in bronchiolar epithelium, believed to be secretory in function ISBN:0-683-40008-8 greater number of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored csmith 2011-02-11T02:42:20Z CL:0002063 FMA:62501 increased AT2 number increased ATII number increased Cuboidal type II cell number increased Great alveolar cell number increased Lung type 2 cell number increased TII number increased granular pneumocyte number increased type 2 alveolar epithelial cell number increased type 2 alveolocyte number increased type 2 pneumocyte number increased type II alveolar epithelial cell number increased type II alveolocyte number increased type II cell number increased type II pneumocytes increased type II pneumonocyte number MPheno.ontology increased Lung type II cell number MP:0010810 increased type II pneumocyte number MP:0010810 greater number of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored ISBN:0412046911 PMID:8540632 https://orcid.org/0000-0002-6490-7723 reduced number of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored csmith 2011-02-11T02:42:20Z CL:0002063 FMA:62501 decreased AT2 number decreased ATII number decreased Cuboidal type II cell number decreased Great alveolar cell number decreased Lung type 2 cell number decreased TII number decreased granular pneumocyte number decreased type 2 alveolar epithelial cell number decreased type 2 alveolocyte number decreased type 2 pneumocyte number decreased type II alveolar epithelial cell number decreased type II alveolocyte number decreased type II cell number decreased type II pneumocytes decreased type II pneumonocyte number reduced AT2 number reduced ATII number reduced Cuboidal type II cell number reduced Great alveolar cell number reduced Lung type 2 cell number reduced TII number reduced granular pneumocyte number reduced type 2 alveolar epithelial cell number reduced type 2 alveolocyte number reduced type 2 pneumocyte number reduced type II alveolar epithelial cell number reduced type II alveolocyte number reduced type II cell number reduced type II pneumocytes reduced type II pneumonocyte number MPheno.ontology decreased Lung type II cell number reduced Lung type II cell number MP:0010811 decreased type II pneumocyte number MP:0010811 reduced number of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored ISBN:0412046911 PMID:8540632 https://orcid.org/0000-0002-6490-7723 absence of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored csmith 2011-02-11T02:42:20Z CL:0002063 FMA:62501 absent AT2 absent ATII absent Cuboidal type II cell absent Great alveolar cells absent Lung type 2 cells absent TII absent granular pneumocytes absent type 2 alveolar epithelial cells absent type 2 alveolocytes absent type 2 pneumocyte absent type II alveolar epithelial cells absent type II alveolocytes absent type II cells absent type II pneumonocytes MPheno.ontology absent Lung type II cells MP:0010812 absent type II pneumocytes MP:0010812 absence of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored ISBN:0412046911 PMID:8540632 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant csmith 2011-02-11T02:42:20Z MPheno.ontology MP:0010813 abnormal alveolar lamellar body morphology MP:0010813 any structural anomaly of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant https://orcid.org/0000-0002-6490-7723 absence of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant csmith 2011-02-11T02:42:20Z MPheno.ontology MP:0010814 absent alveolar lamellar bodies MP:0010814 absence of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant https://orcid.org/0000-0002-6490-7723 increased size of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant csmith 2011-02-11T02:42:20Z increased alveolar lamellar body size MPheno.ontology MP:0010815 enlarged alveolar lamellar bodies MP:0010815 increased size of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant https://orcid.org/0000-0002-6490-7723 reduced number of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange csmith 2011-02-11T02:43:57Z CL:0002062 FMA:62500 decreased AT1 number decreased ATI number decreased Pulmonary alveolar type I cell number decreased Type 1 pneumocyte number decreased lung type 1 cell number decreased membranous pneumocyte number decreased small alveolar cell number decreased squamous alveolar cell number decreased squamous alveolar lining cell number decreased type 1 alveolar epithelial cell number decreased type I alveolar epithelial cell number decreased type I cell number decreased type I pneumonocyte number reduced AT1 number reduced ATI number reduced Pulmonary alveolar type I cell number reduced Type 1 pneumocyte number reduced lung type 1 cell number reduced membranous pneumocyte number reduced small alveolar cell number reduced squamous alveolar cell number reduced squamous alveolar lining cell number reduced type 1 alveolar epithelial cell number reduced type I alveolar epithelial cell number reduced type I cell number reduced type I pneumocyte number reduced type I pneumonocyte number MPheno.ontology MP:0010816 decreased type I pneumocyte number MP:0010816 reduced number of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange PMID:20054144 absence of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange csmith 2011-02-11T02:44:08Z CL:0002062 FMA:62500 absent AT1 absent ATI absent Pulmonary alveolar type I cell absent Type 1 pneumocyte absent lung type 1 cells absent membranous pneumocytes absent small alveolar cells absent squamous alveolar cell absent squamous alveolar lining cell absent type 1 alveolar epithelial cells absent type I alveolar epithelial cells absent type I cells absent type I pneumonocytes MPheno.ontology MP:0010817 absent type I pneumocytes MP:0010817 absence of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange PMID:20054144 alveolar collapse in the presence of patent airways, especially when surfactant is inactivated or absent, and is seen in newborn respiratory distress syndrome, acute radiation pneumonitis, or viral pneumonia csmith 2011-02-14T02:57:41Z microatelectasis nonobstructive atelectasis MPheno.ontology MP:0010818 adhesive atelectasis MP:0010818 alveolar collapse in the presence of patent airways, especially when surfactant is inactivated or absent, and is seen in newborn respiratory distress syndrome, acute radiation pneumonitis, or viral pneumonia ISBN:0-683-40008-8 nonexpansion of the lungs after birth, seen in stillborn organisms and in live born animals that do not establish respiration csmith 2011-02-14T03:03:14Z neonatal atelectasis MPheno.ontology MP:0010819 primary atelectasis MP:0010819 nonexpansion of the lungs after birth, seen in stillborn organisms and in live born animals that do not establish respiration ISBN:0-683-40008-8 any structural anomaly of the serous membrane surrounding the lungs and lining the walls of the pleural cavity csmith 2011-02-14T03:07:39Z MPheno.ontology MP:0010820 abnormal pleura morphology MP:0010820 any structural anomaly of the serous membrane surrounding the lungs and lining the walls of the pleural cavity ISBN:0-683-40008-8 any structural anomaly of the pleura layer attached to and covering the lungs, and which intercalates into the fissures between the lobes csmith 2011-02-14T03:09:56Z abnormal inner pleura morphology MPheno.ontology abnormal pulmonary pleura morphology MP:0010821 abnormal visceral pleura morphology MP:0010821 any structural anomaly of the pleura layer attached to and covering the lungs, and which intercalates into the fissures between the lobes ISBN:0-683-40008-8 free air or gas is present in the pleural cavity csmith 2011-02-14T03:12:11Z MPheno.ontology MP:0010822 pneumothorax MP:0010822 free air or gas is present in the pleural cavity ISBN:0-683-40008-8 any structural anomaly of the part of the pleura that lines and is attached to the wall of the thoracic cavity csmith 2011-02-14T03:13:50Z abnormal outer pleura morphology MPheno.ontology MP:0010823 abnormal parietal pleura morphology MP:0010823 any structural anomaly of the part of the pleura that lines and is attached to the wall of the thoracic cavity ISBN:0-683-40008-8 absence of the right lung lobe which lies against the diaphragm and has a considerable volume residing in the left hemi-thorax csmith 2011-02-14T03:17:54Z absent right lung cardiac lobe absent right lung infracardiac lobe absent right lung median lobe absent right lung postcaval lobe MPheno.ontology MP:0010824 absent right lung accessory lobe MP:0010824 absence of the right lung lobe which lies against the diaphragm and has a considerable volume residing in the left hemi-thorax ISBN:0486631850 PMID:2050021 any structural anomaly of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth csmith 2011-02-14T03:48:35Z abnormal alveolar saccule morphology MPheno.ontology MP:0010825 abnormal lung saccule morphology MP:0010825 any structural anomaly of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth GO:0060430 ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 absence of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth csmith 2011-02-14T03:54:20Z absent alveolar saccule MPheno.ontology MP:0010826 absent lung saccules MP:0010826 absence of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 reduced size of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth csmith 2011-02-14T03:54:34Z reduced lung saccule size small alveolar saccule MPheno.ontology MP:0010827 small lung saccule MP:0010827 reduced size of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of a respiratory stem cell found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury csmith 2011-02-14T04:12:04Z MPheno.ontology abnormal BASCs MP:0010828 abnormal bronchioalveolar stem cell morphology MP:0010828 any structural anomaly of a respiratory stem cell found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury CL:0002638 greater numbers of a respiratory stem cell found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury csmith 2011-02-14T04:12:33Z MPheno.ontology increased BASC number MP:0010829 increased bronchioalveolar stem cell number MP:0010829 greater numbers of a respiratory stem cell found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury CL:0002638 reduced numbers of a respiratory stem cell found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury csmith 2011-02-14T04:12:48Z decreased BASC number reduced bronchioalveolar stem cell number MPheno.ontology reduced BASC number MP:0010830 decreased bronchioalveolar stem cell number MP:0010830 reduced numbers of a respiratory stem cell found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury CL:0002638 the appearance of lower than Mendelian ratios of offspring of a given genotype due to death of some, but not all of the organisms csmith 2011-02-15T02:25:11Z partial lethal partial lethality reduced viability MPheno.ontology MP:0010831 lethality, incomplete penetrance MP:0010831 the appearance of lower than Mendelian ratios of offspring of a given genotype due to death of some, but not all of the organisms https://orcid.org/0000-0003-3691-0324 death anytime between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age) csmith 2011-02-15T02:48:40Z lethality during foetal growth through weaning MPheno.ontology MP:0010832 lethality during fetal growth through weaning MP:0010832 death anytime between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age) https://orcid.org/0000-0003-3691-0324 any structural anomaly of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive csmith 2011-02-16T10:02:22Z MP:0006385 CL:0000813 abnormal memory T lymphocyte morphology abnormal memory T-cell morphology abnormal memory T-lymphocyte morphology MPheno.ontology MP:0010833 abnormal memory T cell morphology MP:0010833 any structural anomaly of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive CL:0000813 GOC:add GOC:pam GOC:tfm GO_REF:0000031 ISBN:0781735149 any structural anomaly of a CD4-positive, alpha-beta long-lived T cell with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high csmith 2011-02-16T10:04:25Z CL:0000897 abnormal CD4-positive, alpha-beta memory T lymphocyte morphology abnormal CD4-positive, alpha-beta memory T-cell morphology abnormal CD4-positive, alpha-beta memory T-lymphocyte morphology MPheno.ontology abnormal T4.Mem.Sp morphology MP:0010834 abnormal CD4-positive, alpha-beta memory T cell morphology MP:0010834 any structural anomaly of a CD4-positive, alpha-beta long-lived T cell with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high CL:0000897 GOC:add GOC:tfm GO_REF:0000031 ISBN:0781735149 http://www.immgen.org/index_content.html increased number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high csmith 2011-02-16T10:05:16Z CL:0000897 increased CD4-positive, alpha-beta memory T lymphocyte number increased CD4-positive, alpha-beta memory T-cell number increased CD4-positive, alpha-beta memory T-lymphocyte number MPheno.ontology increased T4.Mem.Sp number MP:0010835 increased CD4-positive, alpha-beta memory T cell number MP:0010835 increased number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high CL:0000897 GOC:add GOC:tfm GO_REF:0000031 ISBN:0781735149 http://www.immgen.org/index_content.html reduced number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high csmith 2011-02-16T10:05:28Z CL:0000897 decreased CD4-positive, alpha-beta memory T lymphocyte number decreased CD4-positive, alpha-beta memory T-cell number decreased CD4-positive, alpha-beta memory T-lymphocyte number reduced CD4-positive, alpha-beta memory T lymphocyte number reduced CD4-positive, alpha-beta memory T-cell number reduced CD4-positive, alpha-beta memory T-lymphocyte number MPheno.ontology decreased T4.Mem.Sp number reduced T4.Mem.Sp number MP:0010836 decreased CD4-positive, alpha-beta memory T cell number MP:0010836 reduced number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high CL:0000897 GOC:add GOC:tfm GO_REF:0000031 ISBN:0781735149 http://www.immgen.org/index_content.html any structural anomaly of a CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high csmith 2011-02-16T10:06:22Z CL:0000909 abnormal CD8-positive, alpha-beta memory T lymphocyte morphology abnormal CD8-positive, alpha-beta memory T-cell morphology abnormal CD8-positive, alpha-beta memory T-lymphocyte morphology abnormal T.8Mem.Sp morphology MPheno.ontology MP:0010837 abnormal CD8-positive, alpha-beta memory T cell morphology MP:0010837 any structural anomaly of a CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high CL:0000909 GOC:tfm GO_REF:0000031 PMID:20146720 increased number of CD8-positive, alpha-beta T cells with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high csmith 2011-02-16T10:06:51Z CL:0000909 increased CD8-positive, alpha-beta memory T lymphocyte number increased CD8-positive, alpha-beta memory T-cell number increased CD8-positive, alpha-beta memory T-lymphocyte number increased T.8Mem.Sp number MPheno.ontology MP:0010838 increased CD8-positive, alpha-beta memory T cell number MP:0010838 increased number of CD8-positive, alpha-beta T cells with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high CL:0000909 GOC:tfm GO_REF:0000031 PMID:20146720 decreased number of CD8-positive, alpha-beta T cells with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high csmith 2011-02-16T10:07:07Z CL:0000909 decreased CD8-positive, alpha-beta memory T lymphocyte number decreased CD8-positive, alpha-beta memory T-cell number decreased CD8-positive, alpha-beta memory T-lymphocyte number decreased T.8Mem.Sp number reduced CD8-positive, alpha-beta memory T lymphocyte number reduced CD8-positive, alpha-beta memory T-cell number reduced CD8-positive, alpha-beta memory T-lymphocyte number reduced T.8Mem.Sp number MPheno.ontology MP:0010839 decreased CD8-positive, alpha-beta memory T cell number MP:0010839 decreased number of CD8-positive, alpha-beta T cells with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high CL:0000909 GOC:tfm GO_REF:0000031 PMID:20146720 any structural anomaly of a CD4-positive, alpha-beta memory T cell with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative csmith 2011-02-16T10:31:03Z CL:0000904 abnormal central CD4-positive, alpha-beta memory T cell morphology abnormal central CD4-positive, alpha-beta memory T lymphocyte morphology abnormal central CD4-positive, alpha-beta memory T-cell morphology abnormal central CD4-positive, alpha-beta memory T-lymphocyte morphology abnormal central memory CD4-positive, alpha-beta T lymphocyte morphology abnormal central memory CD4-positive, alpha-beta T-cell morphology abnormal central memory CD4-positive, alpha-beta T-lymphocyte morphology MPheno.ontology MP:0010840 abnormal central memory CD4-positive, alpha-beta T cell morphology MP:0010840 any structural anomaly of a CD4-positive, alpha-beta memory T cell with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative CL:0000904 GOC:add GOC:pam GO_REF:0000031 increased number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative csmith 2011-02-16T10:31:23Z CL:0000904 increased central CD4-positive, alpha-beta memory T cell number increased central CD4-positive, alpha-beta memory T lymphocyte number increased central CD4-positive, alpha-beta memory T-cell number increased central CD4-positive, alpha-beta memory T-lymphocyte number increased central memory CD4-positive, alpha-beta T lymphocyte number increased central memory CD4-positive, alpha-beta T-cell number increased central memory CD4-positive, alpha-beta T-lymphocyte number MPheno.ontology MP:0010841 increased central memory CD4-positive, alpha-beta T cell number MP:0010841 increased number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative CL:0000904 GOC:add GOC:pam GO_REF:0000031 reduced number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative csmith 2011-02-16T10:31:42Z CL:0000904 decreased central CD4-positive, alpha-beta memory T cell number decreased central CD4-positive, alpha-beta memory T lymphocyte number decreased central CD4-positive, alpha-beta memory T-cell number decreased central CD4-positive, alpha-beta memory T-lymphocyte number decreased central memory CD4-positive, alpha-beta T lymphocyte number decreased central memory CD4-positive, alpha-beta T-cell number decreased central memory CD4-positive, alpha-beta T-lymphocyte number reduced central CD4-positive, alpha-beta memory T cell number reduced central CD4-positive, alpha-beta memory T lymphocyte number reduced central CD4-positive, alpha-beta memory T-cell number reduced central CD4-positive, alpha-beta memory T-lymphocyte number reduced central memory CD4-positive, alpha-beta T lymphocyte number reduced central memory CD4-positive, alpha-beta T-cell number reduced central memory CD4-positive, alpha-beta T-lymphocyte number MPheno.ontology MP:0010842 decreased central memory CD4-positive, alpha-beta T cell number MP:0010842 reduced number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative CL:0000904 GOC:add GOC:pam GO_REF:0000031 any structural anomaly of a CD4-positive, alpha-beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative csmith 2011-02-16T10:32:16Z CL:0000905 abnormal effector CD4-positive, alpha-beta memory T cell morphology abnormal effector CD4-positive, alpha-beta memory T lymphocyte morphology abnormal effector CD4-positive, alpha-beta memory T-cell morphology abnormal effector CD4-positive, alpha-beta memory T-lymphocyte morphology abnormal effector memory CD4-positive, alpha-beta T lymphocyte morphology abnormal effector memory CD4-positive, alpha-beta T-cell morphology abnormal effector memory CD4-positive, alpha-beta T-lymphocyte morphology MPheno.ontology MP:0010843 abnormal effector memory CD4-positive, alpha-beta T cell morphology MP:0010843 any structural anomaly of a CD4-positive, alpha-beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative CL:0000905 GOC:add GOC:pam GOC:tfm GO_REF:0000031 increased number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative csmith 2011-02-16T10:32:36Z CL:0000905 increased effector CD4-positive, alpha-beta memory T cell number increased effector CD4-positive, alpha-beta memory T lymphocyte number increased effector CD4-positive, alpha-beta memory T-cell number increased effector CD4-positive, alpha-beta memory T-lymphocyte number increased effector memory CD4-positive, alpha-beta T lymphocyte number increased effector memory CD4-positive, alpha-beta T-cell number increased effector memory CD4-positive, alpha-beta T-lymphocyte number MPheno.ontology MP:0010844 increased effector memory CD4-positive, alpha-beta T cell number MP:0010844 increased number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative CL:0000905 GOC:add GOC:pam GOC:tfm GO_REF:0000031 reduced number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative csmith 2011-02-16T10:32:48Z CL:0000905 decreased effector CD4-positive, alpha-beta memory T cell number decreased effector CD4-positive, alpha-beta memory T lymphocyte number decreased effector CD4-positive, alpha-beta memory T-cell number decreased effector CD4-positive, alpha-beta memory T-lymphocyte number decreased effector memory CD4-positive, alpha-beta T lymphocyte number decreased effector memory CD4-positive, alpha-beta T-cell number decreased effector memory CD4-positive, alpha-beta T-lymphocyte number reduced effector CD4-positive, alpha-beta memory T cell number reduced effector CD4-positive, alpha-beta memory T lymphocyte number reduced effector CD4-positive, alpha-beta memory T-cell number reduced effector CD4-positive, alpha-beta memory T-lymphocyte number reduced effector memory CD4-positive, alpha-beta T lymphocyte number reduced effector memory CD4-positive, alpha-beta T-cell number reduced effector memory CD4-positive, alpha-beta T-lymphocyte number MPheno.ontology MP:0010845 decreased effector memory CD4-positive, alpha-beta T cell number MP:0010845 reduced number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative CL:0000905 GOC:add GOC:pam GOC:tfm GO_REF:0000031 any structural anomaly of a CD8-positive, alpha beta memory T cell with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative csmith 2011-02-16T10:34:09Z CL:0000907 abnormal central CD8-positive, alpha-beta memory T cell morphology abnormal central CD8-positive, alpha-beta memory T lymphocyte morphology abnormal central CD8-positive, alpha-beta memory T-cell morphology abnormal central CD8-positive, alpha-beta memory T-lymphocyte morphology abnormal central memory CD8-positive, alpha-beta T lymphocyte morphology abnormal central memory CD8-positive, alpha-beta T-cell morphology abnormal central memory CD8-positive, alpha-beta T-lymphocyte morphology MPheno.ontology MP:0010846 abnormal central memory CD8 positive, alpha-beta T cell morphology MP:0010846 any structural anomaly of a CD8-positive, alpha beta memory T cell with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative CL:0000907 GOC:add GOC:pam GOC:tfm GO_REF:0000031 PMID:20146720 increased number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative csmith 2011-02-16T10:34:31Z CL:0000907 increased central CD8-positive, alpha-beta memory T cell number increased central CD8-positive, alpha-beta memory T lymphocyte number increased central CD8-positive, alpha-beta memory T-cell number increased central CD8-positive, alpha-beta memory T-lymphocyte number increased central memory CD8-positive, alpha-beta T lymphocyte number increased central memory CD8-positive, alpha-beta T-cell number increased central memory CD8-positive, alpha-beta T-lymphocyte number MPheno.ontology MP:0010847 increased central memory CD8 positive, alpha-beta T cell number MP:0010847 increased number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative CL:0000907 GOC:add GOC:pam GOC:tfm GO_REF:0000031 PMID:20146720 reduced number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative csmith 2011-02-16T10:34:45Z CL:0000907 decreased central CD8-positive, alpha-beta memory T cell number decreased central CD8-positive, alpha-beta memory T lymphocyte number decreased central CD8-positive, alpha-beta memory T-cell number decreased central CD8-positive, alpha-beta memory T-lymphocyte number decreased central memory CD8-positive, alpha-beta T lymphocyte number decreased central memory CD8-positive, alpha-beta T-cell number decreased central memory CD8-positive, alpha-beta T-lymphocyte number reduced central CD8-positive, alpha-beta memory T cell number reduced central CD8-positive, alpha-beta memory T lymphocyte number reduced central CD8-positive, alpha-beta memory T-cell number reduced central CD8-positive, alpha-beta memory T-lymphocyte number reduced central memory CD8-positive, alpha-beta T lymphocyte number reduced central memory CD8-positive, alpha-beta T-cell number reduced central memory CD8-positive, alpha-beta T-lymphocyte number MPheno.ontology MP:0010848 decreased central memory CD8 positive, alpha-beta T cell number MP:0010848 reduced number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative CL:0000907 GOC:add GOC:pam GOC:tfm GO_REF:0000031 PMID:20146720 any structural anomaly of a CD8-positive, alpha beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative csmith 2011-02-16T10:35:29Z CL:0000913 abnormal effector CD8-positive, alpha-beta memory T cell number abnormal effector CD8-positive, alpha-beta memory T lymphocyte number abnormal effector CD8-positive, alpha-beta memory T-cell number abnormal effector CD8-positive, alpha-beta memory T-lymphocyte number abnormal effector memory CD8-positive, alpha-beta T lymphocyte number abnormal effector memory CD8-positive, alpha-beta T-cell number abnormal effector memory CD8-positive, alpha-beta T-lymphocyte number MPheno.ontology MP:0010849 abnormal effector memory CD8-positive, alpha-beta T cell number MP:0010849 any structural anomaly of a CD8-positive, alpha beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative CL:0000913 GOC:add GOC:pam GO_REF:0000031 PMID:20146720 increased number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative csmith 2011-02-16T10:35:47Z CL:0000913 increased effector CD8-positive, alpha-beta memory T cell number increased effector CD8-positive, alpha-beta memory T lymphocyte number increased effector CD8-positive, alpha-beta memory T-cell number increased effector CD8-positive, alpha-beta memory T-lymphocyte number increased effector memory CD8-positive, alpha-beta T lymphocyte number increased effector memory CD8-positive, alpha-beta T-cell number increased effector memory CD8-positive, alpha-beta T-lymphocyte number MPheno.ontology MP:0010850 increased effector memory CD8-positive, alpha-beta T cell number MP:0010850 increased number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative CL:0000913 GOC:add GOC:pam GO_REF:0000031 PMID:20146720 reduced number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative csmith 2011-02-16T10:35:59Z CL:0000913 decreased effector CD8-positive, alpha-beta memory T cell number decreased effector CD8-positive, alpha-beta memory T lymphocyte number decreased effector CD8-positive, alpha-beta memory T-cell number decreased effector CD8-positive, alpha-beta memory T-lymphocyte number decreased effector memory CD8-positive, alpha-beta T lymphocyte number decreased effector memory CD8-positive, alpha-beta T-cell number decreased effector memory CD8-positive, alpha-beta T-lymphocyte number reduced effector CD8-positive, alpha-beta memory T cell number reduced effector CD8-positive, alpha-beta memory T lymphocyte number reduced effector CD8-positive, alpha-beta memory T-cell number reduced effector CD8-positive, alpha-beta memory T-lymphocyte number reduced effector memory CD8-positive, alpha-beta T lymphocyte number reduced effector memory CD8-positive, alpha-beta T-cell number reduced effector memory CD8-positive, alpha-beta T-lymphocyte number MPheno.ontology MP:0010851 decreased effector memory CD8-positive, alpha-beta T cell number MP:0010851 reduced number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative CL:0000913 GOC:add GOC:pam GO_REF:0000031 PMID:20146720 absence of a membrane-bounded organelle, specialized for the storage and secretion various substances (glycoproteins and acid phosphates) which are arranged in the form of tightly packed, concentric, membrane sheets or lamellae csmith 2011-02-16T12:16:50Z absent Odland bodies absent keratinosomes absent lamellar bodies absent lamellar granules absent skin lamellar bodies MPheno.ontology absent membrane-coating granules MP:0010852 The name includes epidermal to distinguish it from lung alveolar cell lamellar bodies. absent epidermal lamellar bodies MP:0010852 absence of a membrane-bounded organelle, specialized for the storage and secretion various substances (glycoproteins and acid phosphates) which are arranged in the form of tightly packed, concentric, membrane sheets or lamellae GO:0042599 the lung is displaced from the normal position and/or has an altered left/right orientation csmith 2011-02-17T02:05:46Z MPheno.ontology MP:0010853 abnormal lung position or orientation MP:0010853 the lung is displaced from the normal position and/or has an altered left/right orientation https://orcid.org/0000-0003-3691-0324 anomaly in the asymmetry of the lung such that lung lobes on both the left and right side have the morphology normally seen on the opposite side of the body csmith 2011-02-17T02:09:11Z pulmonary situs inversus MPheno.ontology MP:0010854 lung situs inversus MP:0010854 anomaly in the asymmetry of the lung such that lung lobes on both the left and right side have the morphology normally seen on the opposite side of the body https://orcid.org/0000-0003-3691-0324 increased amount of blood flow into the lungs csmith 2011-02-17T02:53:31Z lung hyperaemia lung hyperemia pulmonary hyperaemia MPheno.ontology MP:0010855 pulmonary hyperemia MP:0010855 increased amount of blood flow into the lungs https://orcid.org/0000-0003-3691-0324 expansion or widening of the lumen of one or more of the tubes of the respiratory system that allow passage of air from the trachea to the alveoli of the lungs csmith 2011-02-17T03:08:25Z dilated conducting airway dilated conducting airways dilated respiratory conducting tubes enlarged conducting air space enlarged conducting air spaces enlarged conducting airway enlarged conducting airways MPheno.ontology MP:0010856 dilated respiratory conducting tube MP:0010856 expansion or widening of the lumen of one or more of the tubes of the respiratory system that allow passage of air from the trachea to the alveoli of the lungs https://orcid.org/0000-0003-3691-0324 morphological changes resulting from pathological death of pulmonary tissue; usually due to irreversible damage csmith 2011-02-18T11:12:37Z lung necrosis necrotic lung necrotic lungs MPheno.ontology MP:0010857 pulmonary necrosis MP:0010857 morphological changes resulting from pathological death of pulmonary tissue; usually due to irreversible damage https://orcid.org/0000-0003-3691-0324 morphological changes resulting from pathological death of pulmonary epithelial tissue; usually due to irreversible damage csmith 2011-02-18T11:22:52Z necrotic lung epithelium necrotic pulmonary epithelium MPheno.ontology MP:0010858 pulmonary epithelial necrosis MP:0010858 morphological changes resulting from pathological death of pulmonary epithelial tissue; usually due to irreversible damage https://orcid.org/0000-0003-3691-0324 any structural anomaly of the small horseshoe-shaped anterior part of the anterior commissure which pass into the two olfactory bulbs csmith 2011-02-22T01:22:11Z abnormal acA tract morphology abnormal aco abnormal anterior commissure olfactory limb abnormal anterior part of anterior commissure abnormal pars anterior commissurae anterioris MPheno.ontology MP:0010859 abnormal anterior commissure pars anterior morphology MP:0010859 any structural anomaly of the small horseshoe-shaped anterior part of the anterior commissure which pass into the two olfactory bulbs ISBN:0-683-40008-8 any structural anomaly of the large posterior part of the anterior commissure which connects the right and left temporal lobes csmith 2011-02-22T01:22:36Z abnormal acP tract morphology abnormal act abnormal anterior commissure temporal limb abnormal pars posterior commissurae anterioris abnormal posterior part of anterior commissure MPheno.ontology MP:0010860 abnormal anterior commissure pars posterior morphology MP:0010860 any structural anomaly of the large posterior part of the anterior commissure which connects the right and left temporal lobes ISBN:0-683-40008-8 greater number of the cells of the respiratory epithelial lining that produce and secrete mucins csmith 2011-02-22T01:41:05Z respiratory mucosa goblet cell hyperplasia MPheno.ontology MP:0010861 increased respiratory mucosa goblet cell number MP:0010861 greater number of the cells of the respiratory epithelial lining that produce and secrete mucins https://orcid.org/0000-0002-6490-7723 reduced number of the cells of the respiratory epithelial lining that produce and secrete mucins csmith 2011-02-22T01:41:30Z MPheno.ontology MP:0010862 decreased respiratory mucosa goblet cell number MP:0010862 reduced number of the cells of the respiratory epithelial lining that produce and secrete mucins https://orcid.org/0000-0002-6490-7723 absence of the cells of the respiratory epithelial lining that produce and secrete mucins csmith 2011-02-22T01:41:45Z MPheno.ontology MP:0010863 absent respiratory mucosa goblet cells MP:0010863 absence of the cells of the respiratory epithelial lining that produce and secrete mucins https://orcid.org/0000-0002-6490-7723 any structural anomaly of a transient cluster of cells in the central part of the dental epithelium facing the dental mesenchyme, which acts as an organizing center, providing positional information for tooth morphogenesis and regulating the growth of tooth cusps csmith 2011-02-22T02:46:53Z MPheno.ontology MP:0010864 abnormal enamel knot morphology MP:0010864 any structural anomaly of a transient cluster of cells in the central part of the dental epithelium facing the dental mesenchyme, which acts as an organizing center, providing positional information for tooth morphogenesis and regulating the growth of tooth cusps PMID:8808404 https://orcid.org/0000-0003-3691-0324 slow or limited development during the prenatal period csmith 2011-02-23T11:03:05Z intrauterine growth restriction MPheno.ontology MP:0010865 prenatal growth retardation MP:0010865 slow or limited development during the prenatal period https://orcid.org/0000-0003-3691-0324 anomaly in the average body weight, height and/or length of an organism compared to controls at anytime prior to birth csmith 2011-02-23T11:05:22Z MPheno.ontology MP:0010866 abnormal prenatal body size MP:0010866 anomaly in the average body weight, height and/or length of an organism compared to controls at anytime prior to birth https://orcid.org/0000-0003-3691-0324 any structural anomaly of the network of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force csmith 2011-03-02T03:44:39Z MPheno.ontology MP:0010867 abnormal bone trabecula morphology MP:0010867 any structural anomaly of the network of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force http://www.dorlands.com/ https://orcid.org/0000-0003-3691-0324 increased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force csmith 2011-03-02T03:44:39Z MPheno.ontology MP:0010868 increased bone trabecula number MP:0010868 increased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force http://www.dorlands.com/ https://orcid.org/0000-0003-3691-0324 decreased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force csmith 2011-03-02T03:44:39Z reduced bone trabecula number MPheno.ontology MP:0010869 decreased bone trabecula number MP:0010869 decreased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force http://www.dorlands.com/ https://orcid.org/0000-0003-3691-0324 absence of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force csmith 2011-03-02T03:44:39Z MPheno.ontology MP:0010870 absent bone trabeculae MP:0010870 absence of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force http://www.dorlands.com/ https://orcid.org/0000-0003-3691-0324 anomaly in the total amount of trabecular bone tissue contained in the skeleton csmith 2011-03-02T03:45:30Z abnormal cancellous bone mass abnormal spongy bone mass abnormal spongy spongiosa mass abnormal spongy substance mass abnormal substantia trabecularis mass MPheno.ontology MP:0010871 abnormal trabecular bone mass MP:0010871 anomaly in the total amount of trabecular bone tissue contained in the skeleton https://orcid.org/0000-0003-3691-0324 greater total amount of trabecular bone tissue contained in the skeleton csmith 2011-03-02T03:45:30Z increased cancellous bone mass increased spongy bone mass increased spongy spongiosa mass increased spongy substance mass increased substantia trabecularis mass MPheno.ontology MP:0010872 increased trabecular bone mass MP:0010872 greater total amount of trabecular bone tissue contained in the skeleton https://orcid.org/0000-0003-3691-0324 reduced total amount of trabecular bone tissue contained in the skeleton csmith 2011-03-02T03:45:30Z decreased cancellous bone mass decreased spongy bone mass decreased spongy spongiosa mass decreased spongy substance mass decreased substantia trabecularis mass MPheno.ontology MP:0010873 decreased trabecular bone mass MP:0010873 reduced total amount of trabecular bone tissue contained in the skeleton https://orcid.org/0000-0003-3691-0324 any anomaly in the amount of space occupied by bone tissue in the skeleton csmith 2011-03-02T03:46:45Z MPheno.ontology MP:0010874 abnormal bone volume MP:0010874 any anomaly in the amount of space occupied by bone tissue in the skeleton https://orcid.org/0000-0003-3691-0324 increased amount of space occupied by bone tissue in the skeleton csmith 2011-03-02T03:46:45Z MPheno.ontology MP:0010875 increased bone volume MP:0010875 increased amount of space occupied by bone tissue in the skeleton https://orcid.org/0000-0003-3691-0324 reduced amount of space occupied by bone tissue in the skeleton csmith 2011-03-02T03:46:45Z reduced bone volume MPheno.ontology MP:0010876 decreased bone volume MP:0010876 reduced amount of space occupied by bone tissue in the skeleton https://orcid.org/0000-0003-3691-0324 any anomaly in the amount of space occupied by trabecular bone tissue in the skeleton csmith 2011-03-02T03:47:23Z abnormal cancellous bone volume abnormal spongy bone volume abnormal spongy spongiosa volume abnormal spongy substance volume abnormal substantia trabecularis volume MPheno.ontology MP:0010877 abnormal trabecular bone volume MP:0010877 any anomaly in the amount of space occupied by trabecular bone tissue in the skeleton https://orcid.org/0000-0003-3691-0324 increase in the amount of space occupied by trabecular bone tissue in the skeleton csmith 2011-03-02T03:47:23Z increased cancellous bone volume increased spongy bone volume increased spongy spongiosa volume increased spongy substance volume increased substantia trabecularis volume MPheno.ontology MP:0010878 increased trabecular bone volume MP:0010878 increase in the amount of space occupied by trabecular bone tissue in the skeleton https://orcid.org/0000-0003-3691-0324 decrease in the amount of space occupied by trabecular bone tissue in the skeleton csmith 2011-03-02T03:47:23Z decreased cancellous bone volume decreased spongy bone volume decreased spongy spongiosa volume decreased spongy substance volume decreased substantia trabecularis volume reduced cancellous bone volume reduced spongy bone volume reduced spongy spongiosa volume reduced spongy substance volume reduced substantia trabecularis volume reduced trabecular bone volume MPheno.ontology MP:0010879 decreased trabecular bone volume MP:0010879 decrease in the amount of space occupied by trabecular bone tissue in the skeleton https://orcid.org/0000-0003-3691-0324 reduced size of the part of the digestive canal through which food passes from the pharynx to the stomach csmith 2011-03-02T04:00:16Z decreased esophagus size decreased oesophagus size small oesophagus MPheno.ontology MP:0010880 small esophagus MP:0010880 reduced size of the part of the digestive canal through which food passes from the pharynx to the stomach https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the esophagus, typically resulting in decreased size csmith 2011-03-02T04:00:47Z esophageal hypoplasia hypoplastic esophagus hypoplastic oesophagus oesophageal hypoplasia oesophagus hypoplasia MPheno.ontology MP:0010881 esophagus hypoplasia MP:0010881 decrease in the number of normal cells in normal arrangement in the esophagus, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the trachea, typically resulting in decreased size csmith 2011-03-02T04:02:01Z hypoplastic trachea tracheal hypoplasia MPheno.ontology MP:0010882 trachea hypoplasia MP:0010882 decrease in the number of normal cells in normal arrangement in the trachea, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 abnormal narrowing or constriction of the trachea csmith 2011-03-02T04:03:02Z narrow trachea tracheal stenosis MPheno.ontology MP:0010883 trachea stenosis MP:0010883 abnormal narrowing or constriction of the trachea https://orcid.org/0000-0002-6490-7723 abnormal narrowing or constriction of the esophagus csmith 2011-03-02T04:03:58Z esophageal stenosis narrow esophagus narrow oesophagus oesophageal stenosis oesophagus stenosis MPheno.ontology MP:0010884 esophagus stenosis MP:0010884 abnormal narrowing or constriction of the esophagus https://orcid.org/0000-0002-6490-7723 absence of the tube descending from the larynx and branching into the right and left main bronchi csmith 2011-03-02T04:05:08Z MPheno.ontology MP:0010885 absent trachea MP:0010885 absence of the tube descending from the larynx and branching into the right and left main bronchi https://orcid.org/0000-0002-6490-7723 all of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands are absent csmith 2011-03-02T04:06:16Z MPheno.ontology MP:0010886 absent minor salivary glands MP:0010886 all of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands are absent MGI:llw2 lung lacking normal reddish coloration; often occurs with a bloodless or reduced vasculature condition csmith 2011-03-02T04:07:19Z MPheno.ontology MP:0010887 pale lung MP:0010887 lung lacking normal reddish coloration; often occurs with a bloodless or reduced vasculature condition https://orcid.org/0000-0002-6490-7723 true MP:0010888 decreased size of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant csmith 2011-03-02T04:15:20Z decreased alveolar lamellar body size MPheno.ontology MP:0010889 small alveolar lamellar bodies MP:0010889 decreased size of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant https://orcid.org/0000-0002-6490-7723 reduced number of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant csmith 2011-03-02T04:15:20Z MPheno.ontology MP:0010890 decreased alveolar lamellar body number MP:0010890 reduced number of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant https://orcid.org/0000-0002-6490-7723 greater number of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant csmith 2011-03-02T04:15:20Z MPheno.ontology MP:0010891 increased alveolar lamellar body number MP:0010891 greater number of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant https://orcid.org/0000-0002-6490-7723 greater number of cells that differentiate into a type of glial cell in the central nervous system csmith 2011-03-02T04:18:41Z increased oligodendrocyte precursor number MPheno.ontology MP:0010892 increased oligodendrocyte progenitor number MP:0010892 greater number of cells that differentiate into a type of glial cell in the central nervous system https://orcid.org/0000-0003-3691-0324 any structural anomaly of the band of nerve fiber tracts that span the longitudinal fissure beneath the habenula of the pineal body and over the cerebral aqueduct, interconnecting the left and right pretectal regions and some midbrain nuclei csmith 2011-03-04T10:12:41Z abnormal epithalamic commissure morphology MPheno.ontology MP:0010893 abnormal posterior commissure morphology MP:0010893 any structural anomaly of the band of nerve fiber tracts that span the longitudinal fissure beneath the habenula of the pineal body and over the cerebral aqueduct, interconnecting the left and right pretectal regions and some midbrain nuclei ISBN:0-683-40008-8 an effusion of serous fluid into the pulmonary alveoli; usually caused by the movement of blood components through the pulmonary capillary walls as a result of a change in osmotic pressure, an increased permeability of the walls, or related factors csmith 2011-03-04T12:43:22Z pulmonary alveolar oedema MPheno.ontology MP:0010894 pulmonary alveolar edema MP:0010894 an effusion of serous fluid into the pulmonary alveoli; usually caused by the movement of blood components through the pulmonary capillary walls as a result of a change in osmotic pressure, an increased permeability of the walls, or related factors https://orcid.org/0000-0002-6490-7723 increased ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure csmith 2011-03-04T01:01:00Z increased pulmonary compliance MPheno.ontology MP:0010895 increased lung compliance MP:0010895 increased ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure ISBN:070202788X reduced ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure csmith 2011-03-04T01:01:36Z decreased pulmonary compliance reduced lung compliance MPheno.ontology MP:0010896 decreased lung compliance MP:0010896 reduced ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure ISBN:070202788X any structural anomaly of the epithelial layer of the bronchioles csmith 2011-03-04T01:16:28Z MPheno.ontology MP:0010897 abnormal bronchiole epithelium morphology MP:0010897 any structural anomaly of the epithelial layer of the bronchioles https://orcid.org/0000-0003-3691-0324 any structural anomaly of the epithelial layer of the alveoli csmith 2011-03-04T01:16:56Z abnormal respiratory alveolus epithelium morphology MPheno.ontology MP:0010898 abnormal pulmonary alveolus epithelium morphology MP:0010898 any structural anomaly of the epithelial layer of the alveoli https://orcid.org/0000-0003-3691-0324 any structural anomaly of the portion of the lung comprised of the pulmonary acinus and the alveolar parenchyma csmith 2011-03-04T01:25:38Z MPheno.ontology MP:0010899 abnormal pulmonary alveolar system morphology MP:0010899 any structural anomaly of the portion of the lung comprised of the pulmonary acinus and the alveolar parenchyma https://orcid.org/0000-0003-3691-0324 any structural anomaly of the tissue intervening between two adjacent pulmonary alveoli, which consists of the basement membranes of alveolar-lining epithelium (mostly type I pneumocytes) and capillary endothelium; thicker alveolar septal regions may also contain elastic fibers, collagen, interstitial cells, smooth muscle cells, mast cells, lymphocytes and monocytes csmith 2011-03-04T01:26:37Z abnormal alveolar septum morphology abnormal interalveolar septum morphology abnormal septum interalveolare morphology MPheno.ontology MP:0010900 abnormal pulmonary interalveolar septum morphology MP:0010900 any structural anomaly of the tissue intervening between two adjacent pulmonary alveoli, which consists of the basement membranes of alveolar-lining epithelium (mostly type I pneumocytes) and capillary endothelium; thicker alveolar septal regions may also contain elastic fibers, collagen, interstitial cells, smooth muscle cells, mast cells, lymphocytes and monocytes ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the distinguishing cell types of the lung alveolar tissue, including pulmonary epithelial cells (pneumocytes), alveolar capillary endothelial cells, interstitial cells (fibroblasts) and alveolar macrophages csmith 2011-03-04T01:27:30Z MPheno.ontology MP:0010901 abnormal pulmonary alveolar parenchyma morphology MP:0010901 any structural anomaly of the distinguishing cell types of the lung alveolar tissue, including pulmonary epithelial cells (pneumocytes), alveolar capillary endothelial cells, interstitial cells (fibroblasts) and alveolar macrophages ISBN:070202788X https://orcid.org/0000-0003-3691-0324 any structural anomaly of the small terminal dilation of the alveolar ducts around which the alveoli form pocket-like clusters csmith 2011-03-04T01:41:11Z abnormal air sac morphology MPheno.ontology MP:0010902 abnormal pulmonary alveolar sac morphology MP:0010902 any structural anomaly of the small terminal dilation of the alveolar ducts around which the alveoli form pocket-like clusters ISBN:0-683-40008-8 any structural anomaly in the tissue that encloses the alveolar space of the lung csmith 2011-03-04T01:52:28Z abnormal pulmonary alveolar wall morphology MPheno.ontology MP:0010903 abnormal pulmonary alveolus wall morphology MP:0010903 any structural anomaly in the tissue that encloses the alveolar space of the lung https://orcid.org/0000-0003-4606-0597 any structural anomaly of the openings in the alveolar septum that permit air flow between adjacent alveoli csmith 2011-03-04T02:49:12Z abnormal interalveolar pores abnormal pores of Kohn MPheno.ontology MP:0010904 abnormal alveolar pore morphology MP:0010904 any structural anomaly of the openings in the alveolar septum that permit air flow between adjacent alveoli ISBN:0-683-40008-8 absence of the openings in the alveolar septum that permit air flow between adjacent alveoli csmith 2011-03-04T02:50:18Z absent interalveolar pores absent pores of Kohn MPheno.ontology MP:0010905 absent alveolar pores MP:0010905 absence of the openings in the alveolar septum that permit air flow between adjacent alveoli ISBN:0-683-40008-8 any structural anomaly of the primary outgrowth of the embryonic trachea i.e. blunt end of the respiratory diverticulum which grows ventrally out of the proximal end of the foregut, then extends caudally and divides into two, forming the anlage of a primary bronchus and all its branches csmith 2011-03-04T02:58:37Z abnormal lung buds abnormal primary lung bud morphology abnormal tracheal bud morphology MPheno.ontology MP:0010906 abnormal lung bud morphology MP:0010906 any structural anomaly of the primary outgrowth of the embryonic trachea i.e. blunt end of the respiratory diverticulum which grows ventrally out of the proximal end of the foregut, then extends caudally and divides into two, forming the anlage of a primary bronchus and all its branches https://orcid.org/0000-0002-6490-7723 absence of the blunt end of the respiratory diverticulum which normally grows ventrally out of the proximal end of the foregut, then extends caudally and divides into two, forming the origins of the bronchial tree csmith 2011-03-04T02:59:58Z absent primary lung buds absent tracheal buds lung bud agenesis MPheno.ontology MP:0010907 absent lung buds MP:0010907 absence of the blunt end of the respiratory diverticulum which normally grows ventrally out of the proximal end of the foregut, then extends caudally and divides into two, forming the origins of the bronchial tree https://orcid.org/0000-0002-6490-7723 expansion or widening of the lumen of one or more of the respiratory conducting tubes distal to the respiratory bronchiole that lead to the alveolar sacs and the alveoli csmith 2011-03-04T03:06:00Z alveolar duct dilation dilated alveolar duct dilated alveolar ducts dilated pulmonary alveolar ducts dilated respiratory alveolar duct dilated respiratory alveolar ducts enlarged alveolar duct enlarged alveolar ducts pulmonary alveolar duct dilation respiratory alveolar duct dilation MPheno.ontology MP:0010908 dilated pulmonary alveolar duct MP:0010908 expansion or widening of the lumen of one or more of the respiratory conducting tubes distal to the respiratory bronchiole that lead to the alveolar sacs and the alveoli https://orcid.org/0000-0002-6490-7723 bleeding into the small sac-like dilations of the distal airspace of the lung csmith 2011-03-04T03:08:24Z alveolar bleeding alveolar haemorrhage alveolar hemorrhage intra-alveolar haemorrhage intra-alveolar hemorrhage lung alveolar haemorrhage lung alveolar hemorrhage pulmonary alveolar haemorrhage MPheno.ontology MP:0010909 pulmonary alveolar hemorrhage MP:0010909 bleeding into the small sac-like dilations of the distal airspace of the lung https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the bronchiolar epithelium, typically resulting in increased size csmith 2011-03-08T09:42:20Z hyperplastic bronchiolar epithelium MPheno.ontology MP:0010910 bronchiolar epithelial hyperplasia MP:0010910 increase in the number of normal cells in normal arrangement in the bronchiolar epithelium, typically resulting in increased size https://orcid.org/0000-0003-3691-0324 any structural anomaly of the part of the airway consisting of a respiratory bronchiole and all of its branches csmith 2011-03-10T12:31:53Z abnormal primary pulmonary lobule morphology abnormal respiratory lobule morphology MPheno.ontology MP:0010911 abnormal pulmonary acinus morphology MP:0010911 any structural anomaly of the part of the airway consisting of a respiratory bronchiole and all of its branches ISBN:0-683-40008-8 protrusion of any portion of the liver from its normal anatomical position csmith 2011-03-10T12:56:06Z hepatic herniation liver hernia MPheno.ontology MP:0010912 herniated liver MP:0010912 protrusion of any portion of the liver from its normal anatomical position https://orcid.org/0000-0002-6490-7723 any structural anomaly of a neuron that has the specialized function to produce and secrete hormones, contains neruosecretory granules, and that constitutes, in whole or in part, an endocrine organ or system csmith 2011-03-10T03:07:49Z CL:0000165 FMA:83810 abnormal neurosecretory cell morphology abnormal paraneurone morphology MPheno.ontology MP:0010913 abnormal neuroendocrine cell morphology MP:0010913 any structural anomaly of a neuron that has the specialized function to produce and secrete hormones, contains neruosecretory granules, and that constitutes, in whole or in part, an endocrine organ or system CL:0000165 MESH:A.06.688 any structural anomaly of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis csmith 2011-03-10T03:46:27Z abnormal P cell CL:0002066 FMA:14118 abnormal Feyrter cell morphology abnormal Kulschitzky cells abnormal Kultschitzky cell of bronchiole abnormal PNECs abnormal bronchiolar Kulchitsky cell abnormal respiratory enterochromaffin cell abnormal single pulmonary neuroendocrine cell morphology MPheno.ontology MP:0010914 abnormal solitary pulmonary neuroendocrine cell morphology MP:0010914 any structural anomaly of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis https://orcid.org/0000-0002-6490-7723 increased number of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis csmith 2011-03-10T03:51:46Z increased P cell number CL:0002066 FMA:14118 increased Feyrter cell number increased Kulschitzky cells increased Kultschitzky cell of bronchiole number increased PNECs increased bronchiolar Kulchitsky cell number increased respiratory enterochromaffin cell number increased single pulmonary neuroendocrine cell number MPheno.ontology MP:0010915 increased solitary pulmonary neuroendocrine cell number MP:0010915 increased number of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis https://orcid.org/0000-0002-6490-7723 decreased number of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis csmith 2011-03-10T03:51:46Z decreased P cell number reduced P cell number CL:0002066 FMA:14118 decreased Feyrter cell number decreased Kulschitzky cells decreased Kultschitzky cell of bronchiole number decreased PNECs decreased bronchiolar Kulchitsky cell number decreased respiratory enterochromaffin cell number decreased single pulmonary neuroendocrine cell number reduced Feyrter cell number reduced Kulschitzky cells reduced Kultschitzky cell of bronchiole number reduced PNECs reduced bronchiolar Kulchitsky cell number reduced respiratory enterochromaffin cell number reduced single pulmonary neuroendocrine cell number MPheno.ontology MP:0010916 decreased solitary pulmonary neuroendocrine cell number MP:0010916 decreased number of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis https://orcid.org/0000-0002-6490-7723 absence of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis csmith 2011-03-10T03:51:46Z absent P cell CL:0002066 FMA:14118 absent Feyrter cell absent Kulschitzky cells absent Kultschitzky cell of bronchiole absent PNECs absent bronchiolar Kulchitsky cell absent respiratory enterochromaffin cell absent single pulmonary neuroendocrine cell MPheno.ontology MP:0010917 absent solitary pulmonary neuroendocrine cells MP:0010917 absence of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis https://orcid.org/0000-0002-6490-7723 any structural anomaly of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors csmith 2011-03-10T03:54:36Z abnormal NEBs abnormal pulmonary neuroendocrine bodies abnormal pulmonary neuroepithelial bodies MPheno.ontology MP:0010918 abnormal pulmonary neuroendocrine body morphology MP:0010918 any structural anomaly of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors https://orcid.org/0000-0002-6490-7723 greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors csmith 2011-03-10T03:58:13Z increased NEBs increased pulmonary neuroepithelial body number MPheno.ontology MP:0010919 increased number of pulmonary neuroendocrine bodies MP:0010919 greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors https://orcid.org/0000-0002-6490-7723 reduction in the number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors csmith 2011-03-10T03:58:13Z decreased NEBs decreased pulmonary neuroepithelial body number reduced NEBs reduced number of pulmonary neuroendocrine bodies reduced pulmonary neuroepithelial body number MPheno.ontology MP:0010920 decreased number of pulmonary neuroendocrine bodies MP:0010920 reduction in the number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors https://orcid.org/0000-0002-6490-7723 absence of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors csmith 2011-03-10T03:58:13Z absent NEBs absent pulmonary neuroepithelial bodies MPheno.ontology MP:0010921 absent pulmonary neuroendocrine bodies MP:0010921 absence of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors https://orcid.org/0000-0002-6490-7723 inflammation of the small sac-like dilations of the distal airspace of the lung; acute pulmonary alveolitis involves exudate into the pulmonary alveoli and impaired gas exchange csmith 2011-03-10T04:01:31Z alveolar inflammation alveolus inflammation MPheno.ontology MP:0010922 alveolitis MP:0010922 inflammation of the small sac-like dilations of the distal airspace of the lung; acute pulmonary alveolitis involves exudate into the pulmonary alveoli and impaired gas exchange https://orcid.org/0000-0002-6490-7723 pathologic deposition of calcium salts in the pulmonary alveoli csmith 2011-03-10T04:03:13Z pulmonary alveolar calcification alveolar calcinosis calcified pulmonary alveoli pulmonary alveolus calcification MPheno.ontology MP:0010923 calcified pulmonary alveolus MP:0010923 pathologic deposition of calcium salts in the pulmonary alveoli https://orcid.org/0000-0002-6490-7723 any structural anomaly of newly formed organic bone matrix secreted by osteoblasts, that exists prior to calcification; it is comprised mainly of type I collagen fibers, chondroitin sulfate and osteocalcin csmith 2011-03-14T12:16:12Z abnormal prebone tissue morphology MPheno.ontology MP:0010924 abnormal osteoid morphology MP:0010924 any structural anomaly of newly formed organic bone matrix secreted by osteoblasts, that exists prior to calcification; it is comprised mainly of type I collagen fibers, chondroitin sulfate and osteocalcin ISBN:0-683-40008-8 any anomaly in the amount of space occupied by newly formed organic bone matrix secreted by osteoblasts csmith 2011-03-14T12:38:50Z abnormal prebone tissue volume MPheno.ontology MP:0010925 abnormal osteoid volume MP:0010925 any anomaly in the amount of space occupied by newly formed organic bone matrix secreted by osteoblasts ISBN:0-683-40008-8 increase in the amount of space occupied by newly formed organic bone matrix secreted by osteoblasts csmith 2011-03-14T12:39:31Z increased prebone tissue volume MPheno.ontology MP:0010926 increased osteoid volume MP:0010926 increase in the amount of space occupied by newly formed organic bone matrix secreted by osteoblasts ISBN:0-683-40008-8 reduction in the amount of space occupied by newly formed organic bone matrix secreted by osteoblasts csmith 2011-03-14T12:39:31Z decreased prebone tissue volume reduced osteoid volume reduced prebone tissue volume MPheno.ontology MP:0010927 decreased osteoid volume MP:0010927 reduction in the amount of space occupied by newly formed organic bone matrix secreted by osteoblasts ISBN:0-683-40008-8 anomaly in the width of the layer of newly formed organic bone matrix secreted by osteoblasts csmith 2011-03-14T12:39:37Z abnormal prebone tissue thickness MPheno.ontology MP:0010928 abnormal osteoid thickness MP:0010928 anomaly in the width of the layer of newly formed organic bone matrix secreted by osteoblasts ISBN:0-683-40008-8 increase in the width of the layer of newly formed organic bone matrix secreted by osteoblasts csmith 2011-03-14T12:40:07Z increased prebone tissue thickness MPheno.ontology MP:0010929 increased osteoid thickness MP:0010929 increase in the width of the layer of newly formed organic bone matrix secreted by osteoblasts ISBN:0-683-40008-8 reduction in the width of the layer of newly formed organic bone matrix secreted by osteoblasts csmith 2011-03-14T12:40:07Z decreased prebone tissue thickness reduced osteoid thickness reduced prebone tissue thickness MPheno.ontology MP:0010930 decreased osteoid thickness MP:0010930 reduction in the width of the layer of newly formed organic bone matrix secreted by osteoblasts ISBN:0-683-40008-8 any anomaly in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures csmith 2011-03-14T01:28:48Z abnormal trabecular bone interconnectivity index MPheno.ontology MP:0010931 abnormal trabecular bone connectivity density MP:0010931 any anomaly in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures ISBN:0120986523 increase in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures csmith 2011-03-14T02:05:30Z increased trabecular bone interconnectivity index MPheno.ontology MP:0010932 increased trabecular bone connectivity density MP:0010932 increase in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures ISBN:0120986523 reduction in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures csmith 2011-03-14T02:05:58Z decreased trabecular bone interconnectivity index reduced trabecular bone connectivity density reduced trabecular bone interconnectivity index MPheno.ontology MP:0010933 decreased trabecular bone connectivity density MP:0010933 reduction in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures ISBN:0120986523 increase in amount of adipose tissue beneath the skin mgi 2011-03-15T01:58:22Z MPheno.ontology MP:0010934 increased subcutaneous adipose tissue amount MP:0010934 increase in amount of adipose tissue beneath the skin https://orcid.org/0000-0003-3691-0324 greater opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow mgi 2011-03-15T02:04:15Z MPheno.ontology MP:0010935 increased airway resistance MP:0010935 greater opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow https://orcid.org/0000-0003-3691-0324 reduced opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow mgi 2011-03-15T02:04:39Z MPheno.ontology MP:0010936 decreased airway resistance MP:0010936 reduced opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow https://orcid.org/0000-0003-3691-0324 greater volume of air contained in the lungs at the end of maximal inspiration mgi 2011-03-15T02:08:19Z MPheno.ontology MP:0010937 increased total lung capacity MP:0010937 greater volume of air contained in the lungs at the end of maximal inspiration https://orcid.org/0000-0003-3691-0324 reduced volume of air contained in the lungs at the end of maximal inspiration mgi 2011-03-15T02:08:19Z MPheno.ontology MP:0010938 decreased total lung capacity MP:0010938 reduced volume of air contained in the lungs at the end of maximal inspiration https://orcid.org/0000-0003-3691-0324 any structural anomaly of the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip mgi 2011-03-15T02:30:40Z abnormal mandibular process morphology MPheno.ontology MP:0010939 abnormal mandibular prominence morphology MP:0010939 any structural anomaly of the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip ISBN:0-683-40008-8 any structural anomaly of the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw mgi 2011-03-15T02:31:27Z abnormal embryonic maxillary process morphology MPheno.ontology MP:0010940 abnormal maxillary prominence morphology MP:0010940 any structural anomaly of the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw ISBN:0-683-40008-8 any structural anomaly of the large orifice in the occipital bone through which the spinal cord passes to the cranial cavity and becomes continuous with the medulla oblongata mgi 2011-03-15T02:57:43Z MPheno.ontology abnormal great foramen morphology MP:0010941 abnormal foramen magnum morphology MP:0010941 any structural anomaly of the large orifice in the occipital bone through which the spinal cord passes to the cranial cavity and becomes continuous with the medulla oblongata ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi csmith 2011-03-18T11:29:45Z MPheno.ontology MP:0010942 abnormal respiratory epithelium morphology MP:0010942 any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the epithelial layer of the bronchi csmith 2011-03-18T11:31:02Z abnormal bronchial epithelium morphology MPheno.ontology MP:0010943 abnormal bronchus epithelium morphology MP:0010943 any structural anomaly of the epithelial layer of the bronchi https://orcid.org/0000-0002-6490-7723 increase in the bulk size of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi; may be due to cell enlargement or excessive production/accumulation of mucus material csmith 2011-03-18T11:35:17Z hypertrophic airway epithelium MPheno.ontology MP:0010944 respiratory epithelium hypertrophy MP:0010944 increase in the bulk size of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi; may be due to cell enlargement or excessive production/accumulation of mucus material ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the lung epithelium, typically resulting in increased size csmith 2011-03-18T11:39:12Z hyperplastic lung epithelium MPheno.ontology MP:0010945 lung epithelium hyperplasia MP:0010945 increase in the number of normal cells in normal arrangement in the lung epithelium, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 breathing that is deeper and more rapid than normal csmith 2011-03-18T02:51:44Z hyperpnoea MPheno.ontology MP:0010946 hyperpnea MP:0010946 breathing that is deeper and more rapid than normal ISBN:0-683-40008-8 anomaly in the process of repair of single strand breaks in DNA; repair of such breaks is mediated by the same enzyme systems as are used in base excision repair csmith 2011-03-18T03:52:40Z GO:0000012 abnormal single strand break repair MPheno.ontology MP:0010947 abnormal single-strand DNA break repair MP:0010947 anomaly in the process of repair of single strand breaks in DNA; repair of such breaks is mediated by the same enzyme systems as are used in base excision repair GO:0000012 any anomaly in the process of repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix csmith 2011-03-18T03:52:57Z GO:00006302 abnormal double-strand break repair MPheno.ontology MP:0010948 abnormal double-strand DNA break repair MP:0010948 any anomaly in the process of repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix GO:0006302 https://orcid.org/0000-0002-6490-7723 reduced number of the rounded, club-shaped, nonciliated cells found between ciliated cells in bronchiolar epithelium csmith 2011-03-23T09:04:19Z decreased Clara cell number decreased bronchiolar exocrine cell number reduced bronchiolar exocrine cell number reduced club cell number MPheno.ontology MP:0010949 decreased club cell number MP:0010949 reduced number of the rounded, club-shaped, nonciliated cells found between ciliated cells in bronchiolar epithelium https://orcid.org/0000-0002-6490-7723 anomaly in the lung tissue property defined as the ratio of dissipated energy to stored energy over a respiratory cycle; it can be measured as the area enclosed by a pressure-volume loop of the lung, and is dependent on composition and microstructure of the tissue components such as the elastic connective tissue csmith 2011-03-23T10:12:37Z MPheno.ontology MP:0010950 abnormal lung hysteresivity MP:0010950 anomaly in the lung tissue property defined as the ratio of dissipated energy to stored energy over a respiratory cycle; it can be measured as the area enclosed by a pressure-volume loop of the lung, and is dependent on composition and microstructure of the tissue components such as the elastic connective tissue PMID:2606848 anomaly in the process of removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen csmith 2011-03-23T03:45:21Z MPheno.ontology MP:0010951 abnormal lipid oxidation MP:0010951 anomaly in the process of removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen GO:0034440 anomaly in the process that results in the complete oxidation of a long-chain fatty acid, beginning with the addition of coenzyme A to a fatty acid, with successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively) csmith 2011-03-23T03:45:36Z MPheno.ontology MP:0010952 abnormal fatty acid beta-oxidation MP:0010952 anomaly in the process that results in the complete oxidation of a long-chain fatty acid, beginning with the addition of coenzyme A to a fatty acid, with successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively) GO:0006635 anomaly in the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. csmith 2011-03-23T03:46:18Z MPheno.ontology MP:0010953 abnormal fatty acid oxidation MP:0010953 anomaly in the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. GO:0019395 anomaly in the enzymatic release of energy from organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration) csmith 2011-03-23T03:49:41Z GO:0045333 abnormal oxidative metabolic process abnormal oxidative metabolism MPheno.ontology MP:0010954 abnormal cellular respiration MP:0010954 anomaly in the enzymatic release of energy from organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration) GO:0045333 anomaly in the process in which a series of electron carriers operate together to transfer electrons from donors such as NADH and FADH2 to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient csmith 2011-03-23T03:51:28Z GO:0022904 MPheno.ontology MP:0010955 abnormal respiratory electron transport chain MP:0010955 anomaly in the process in which a series of electron carriers operate together to transfer electrons from donors such as NADH and FADH2 to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient GO:0022904 anomaly in the transfer of electrons through a series of electron donors and acceptors, generating energy that is ultimately used for synthesis of ATP, as it occurs in the mitochondrial inner membrane and mediated by multisubunit enzyme complexes known as complex I-IV csmith 2011-03-23T03:52:57Z MPheno.ontology MP:0010956 abnormal mitochondrial ATP synthesis coupled electron transport MP:0010956 anomaly in the transfer of electrons through a series of electron donors and acceptors, generating energy that is ultimately used for synthesis of ATP, as it occurs in the mitochondrial inner membrane and mediated by multisubunit enzyme complexes known as complex I-IV GO:0042775 https://orcid.org/0000-0003-3691-0324 any anomaly in the process of enzymatic release of energy from organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor csmith 2011-03-24T11:21:55Z GO:0009060 MPheno.ontology MP:0010957 abnormal aerobic respiration MP:0010957 any anomaly in the process of enzymatic release of energy from organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor GO:0009060 any anomaly in the universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes; the acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle csmith 2011-03-24T11:23:08Z GO:0006099 abnormal Krebs cycle abnormal TCA cycle abnormal citric acid cycle MPheno.ontology MP:0010958 In eukaryotes the tricarboxylic acid is confined to the mitochondria. abnormal tricarboxylic acid cycle MP:0010958 any anomaly in the universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes; the acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle GO:0006099 any anomaly in the process of phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain; oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis csmith 2011-03-24T11:40:43Z GO:0006119 MPheno.ontology MP:0010959 abnormal oxidative phosphorylation MP:0010959 any anomaly in the process of phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain; oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis GO:0006119 anomaly in the total amount of compact bone tissue contained in the skeleton csmith 2011-03-24T02:06:48Z abnormal cortical bone mass MPheno.ontology MP:0010960 abnormal compact bone mass MP:0010960 anomaly in the total amount of compact bone tissue contained in the skeleton https://orcid.org/0000-0003-3691-0324 greater than normal total amount of compact bone tissue contained in the skeleton csmith 2011-03-24T02:07:07Z increased cortical bone mass MPheno.ontology MP:0010961 increased compact bone mass MP:0010961 greater than normal total amount of compact bone tissue contained in the skeleton https://orcid.org/0000-0003-3691-0324 less than normal total amount of compact bone tissue contained in the skeleton csmith 2011-03-24T02:07:25Z decreased cortical bone mass reduced compact bone mass reduced cortical bone mass MPheno.ontology MP:0010962 decreased compact bone mass MP:0010962 less than normal total amount of compact bone tissue contained in the skeleton https://orcid.org/0000-0003-3691-0324 any anomaly in the amount of space occupied by compact bone tissue in the skeleton csmith 2011-03-24T02:08:19Z abnormal cortical bone volume MPheno.ontology MP:0010963 abnormal compact bone volume MP:0010963 any anomaly in the amount of space occupied by compact bone tissue in the skeleton https://orcid.org/0000-0003-3691-0324 greater than normal amount of space occupied by compact bone tissue in the skeleton csmith 2011-03-24T02:08:19Z increased cortical bone volume MPheno.ontology MP:0010964 increased compact bone volume MP:0010964 greater than normal amount of space occupied by compact bone tissue in the skeleton https://orcid.org/0000-0003-3691-0324 less than normal amount of space occupied by compact bone tissue in the skeleton csmith 2011-03-24T02:08:19Z decreased cortical bone volume reduced compact bone volume reduced cortical bone volume MPheno.ontology MP:0010965 decreased compact bone volume MP:0010965 less than normal amount of space occupied by compact bone tissue in the skeleton https://orcid.org/0000-0003-3691-0324 anomaly in the total amount of cross-sectional area of compact bone tissue csmith 2011-03-24T02:08:46Z MPheno.ontology MP:0010966 abnormal compact bone area MP:0010966 anomaly in the total amount of cross-sectional area of compact bone tissue https://orcid.org/0000-0003-3691-0324 increase in the total amount of cross-sectional area of compact bone tissue csmith 2011-03-24T02:09:17Z MPheno.ontology MP:0010967 increased compact bone area MP:0010967 increase in the total amount of cross-sectional area of compact bone tissue https://orcid.org/0000-0003-3691-0324 reduction in the total amount of cross-sectional area of compact bone tissue csmith 2011-03-24T02:09:17Z reduced compact bone area MPheno.ontology MP:0010968 decreased compact bone area MP:0010968 reduction in the total amount of cross-sectional area of compact bone tissue https://orcid.org/0000-0003-3691-0324 absence of the outer layers of solid, hard bone that covers spongy bone csmith 2011-03-24T02:09:50Z absent cortical bone MPheno.ontology MP:0010969 absent compact bone MP:0010969 absence of the outer layers of solid, hard bone that covers spongy bone ISBN:0-683-40008-8 any structural anomaly of the concentric layers of calcified matrix interspersed with osteocytes lodged in lacunae between the lamellae that comprise the cylindrical osteons csmith 2011-03-24T02:10:13Z MPheno.ontology MP:0010970 abnormal compact bone lamellar structure MP:0010970 any structural anomaly of the concentric layers of calcified matrix interspersed with osteocytes lodged in lacunae between the lamellae that comprise the cylindrical osteons https://orcid.org/0000-0003-3691-0324 any structural anomaly of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints csmith 2011-03-24T03:22:31Z MPheno.ontology MP:0010971 abnormal periosteum morphology MP:0010971 any structural anomaly of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints ISBN:0-683-40008-8 absence of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints csmith 2011-03-24T03:29:23Z MPheno.ontology MP:0010972 absent periosteum MP:0010972 absence of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints ISBN:0-683-40008-8 increased width of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints csmith 2011-03-24T03:29:40Z thick periosteum MPheno.ontology MP:0010973 increased periosteum thickness MP:0010973 increased width of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints ISBN:0-683-40008-8 decreased width of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints csmith 2011-03-24T03:30:09Z reduced periosteum thickness thin periosteum MPheno.ontology MP:0010974 decreased periosteum thickness MP:0010974 decreased width of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints ISBN:0-683-40008-8 any structural anomaly of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls of connective tissue) csmith 2011-03-24T03:38:48Z MPheno.ontology MP:0010975 The human right lung is divided into three lobes as opposed to two lobes on the left, while the mouse right lung consists of four lobes as opposed to a single lobe on the left. abnormal lung lobe morphology MP:0010975 any structural anomaly of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls of connective tissue) https://orcid.org/0000-0002-6490-7723 reduced size of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls of connective tissue) csmith 2011-03-24T03:40:20Z MPheno.ontology MP:0010976 small lung lobe MP:0010976 reduced size of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls of connective tissue) https://orcid.org/0000-0002-6490-7723 complete or partial fusion of the right lung lobes, indicative of defective lobar septation during embryonic lung development csmith 2011-03-24T03:40:20Z fusion of right lung lobes right lung lobes fusion MPheno.ontology MP:0010977 fused right lung lobes MP:0010977 complete or partial fusion of the right lung lobes, indicative of defective lobar septation during embryonic lung development https://orcid.org/0000-0002-6490-7723 absence of the epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme csmith 2011-03-30T12:43:03Z absent UB MPheno.ontology MP:0010978 absent ureteric bud MP:0010978 absence of the epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme PMID:19828308 reduced size of the epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme csmith 2011-03-30T12:43:03Z decreased ureteric bud size reduced ureteric bud size small UB MPheno.ontology MP:0010979 small ureteric bud MP:0010979 reduced size of the epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme PMID:19828308 ureteric bud(s) are not located in the normal or expected position csmith 2011-03-30T12:43:03Z ectopic UB MPheno.ontology MP:0010980 ectopic ureteric bud MP:0010980 ureteric bud(s) are not located in the normal or expected position https://orcid.org/0000-0003-3691-0324 anomaly in the process in which the branching structure of the ureteric bud is generated and organized csmith 2011-03-30T01:14:06Z GO:0001658 abnormal ureteric bud branching MPheno.ontology MP:0010981 abnormal branching involved in ureteric bud morphogenesis MP:0010981 anomaly in the process in which the branching structure of the ureteric bud is generated and organized GO:0001658 any anomaly in the process in which a ureteric bud grows along its axis csmith 2011-03-30T01:18:53Z MPheno.ontology MP:0010982 abnormal ureteric bud elongation MP:0010982 any anomaly in the process in which a ureteric bud grows along its axis GO:0060677 any anomaly in the process in which the ureteric bud grows into the metanephric mesenchyme, and contributes to the formation of the metanephros csmith 2011-03-30T01:19:39Z MPheno.ontology MP:0010983 abnormal ureteric bud invasion MP:0010983 any anomaly in the process in which the ureteric bud grows into the metanephric mesenchyme, and contributes to the formation of the metanephros PMID:19828308 any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing metanephros; interactions between the ureteric bud and the metanephric mesenchyme leads to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue csmith 2011-03-30T01:20:55Z abnormal metanephric blastema morphology abnormal metanephric mesoderm morphology abnormal nephric mesenchyme morphology MPheno.ontology MP:0010984 abnormal metanephric mesenchyme morphology MP:0010984 any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing metanephros; interactions between the ureteric bud and the metanephric mesenchyme leads to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue PMID:19828308 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing kidney csmith 2011-03-30T01:31:46Z MPheno.ontology MP:0010985 abnormal kidney mesenchyme morphology MP:0010985 any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing kidney ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing mesonephros csmith 2011-03-30T01:32:27Z MPheno.ontology MP:0010986 abnormal mesonephric mesenchyme morphology MP:0010986 any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing mesonephros https://orcid.org/0000-0003-3691-0324 any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing nephron csmith 2011-03-30T01:32:47Z MPheno.ontology MP:0010987 abnormal nephrogenic mesenchyme morphogenesis MP:0010987 any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing nephron https://orcid.org/0000-0003-3691-0324 any structural anomaly of the hyaline cartilaginous structures that support the bronchi, present as irregular rings in the larger bronchi (and not as regular as in the trachea), and as small plates and islands in the smaller bronchi; as the branching continues through the bronchial tree, the amount of hyaline cartilage in the walls decreases until it is absent in the smallest bronchioles csmith 2011-03-30T04:07:07Z MPheno.ontology MP:0010988 abnormal bronchial cartilage morphology MP:0010988 any structural anomaly of the hyaline cartilaginous structures that support the bronchi, present as irregular rings in the larger bronchi (and not as regular as in the trachea), and as small plates and islands in the smaller bronchi; as the branching continues through the bronchial tree, the amount of hyaline cartilage in the walls decreases until it is absent in the smallest bronchioles https://orcid.org/0000-0002-6490-7723 fusion of the hyaline cartilaginous structures that support the bronchi csmith 2011-03-30T04:07:49Z bronchial cartilage ring fusion MPheno.ontology MP:0010989 fused bronchial cartilage rings MP:0010989 fusion of the hyaline cartilaginous structures that support the bronchi https://orcid.org/0000-0002-6490-7723 true MP:0010990 true MP:0010991 greater production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli csmith 2011-03-30T04:13:18Z MP:0010990 increased production of surfactant MPheno.ontology MP:0010992 increased surfactant secretion MP:0010992 greater production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli https://orcid.org/0000-0002-6490-7723 decreased production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli csmith 2011-03-30T04:13:34Z MP:0010991 decreased production of surfactant reduced production of surfactant reduced surfactant secretion MPheno.ontology MP:0010993 decreased surfactant secretion MP:0010993 decreased production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli https://orcid.org/0000-0002-6490-7723 excessive swallowing of air or gas csmith 2011-03-30T04:16:37Z aerophagy air swallowing MPheno.ontology MP:0010994 aerophagia MP:0010994 excessive swallowing of air or gas https://orcid.org/0000-0002-6490-7723 anomaly in the formation of the sacs for holding air in the lungs, which are formed by the terminal dilation of air passageways csmith 2011-03-30T04:21:19Z abnormal alveolarization abnormal alveologenesis abnormal alveolus formation abnormal respiratory alveologenesis MPheno.ontology MP:0010995 abnormal lung alveolus development MP:0010995 anomaly in the formation of the sacs for holding air in the lungs, which are formed by the terminal dilation of air passageways GO:0048286 increased depth of the part of the aorta that encloses the luminal space csmith 2011-03-30T04:23:28Z MPheno.ontology MP:0010996 increased aorta wall thickness MP:0010996 increased depth of the part of the aorta that encloses the luminal space https://orcid.org/0000-0003-4606-0597 decreased depth of the part of the aorta that encloses the luminal space csmith 2011-03-30T04:23:28Z reduced aorta wall thickness MPheno.ontology MP:0010997 decreased aorta wall thickness MP:0010997 decreased depth of the part of the aorta that encloses the luminal space https://orcid.org/0000-0003-4606-0597 abnormal intra-alveolar accumulation of an amorphous, largely cell-free, surfactant-like lipoproteinaceous material that is not easily cleared from the lungs csmith 2011-03-31T11:49:24Z PAP alveolar lipoproteinosis alveolar phospholipidosis alveolar proteinosis pulmonary alveolar lipoproteinosis pulmonary alveolar phospholipoproteinosis MPheno.ontology MP:0010998 pulmonary alveolar proteinosis MP:0010998 abnormal intra-alveolar accumulation of an amorphous, largely cell-free, surfactant-like lipoproteinaceous material that is not easily cleared from the lungs https://orcid.org/0000-0002-6490-7723 disordered protein formation and distribution, especially manifested by the accumulation of excess or abnormal proteins in tissues csmith 2011-03-31T11:52:00Z MPheno.ontology MP:0010999 proteinosis MP:0010999 disordered protein formation and distribution, especially manifested by the accumulation of excess or abnormal proteins in tissues ISBN:0-683-40008-8 defects in the standard of behavior in which individuals in a cohort clean or maintain one another's outer body or appearance csmith 2011-03-31T12:59:39Z abnormal allogrooming behaviour abnormal allopreening behavior abnormal allopreening behaviour MPheno.ontology MP:0011000 abnormal allogrooming behavior MP:0011000 defects in the standard of behavior in which individuals in a cohort clean or maintain one another's outer body or appearance https://orcid.org/0000-0003-3691-0324 absence of a measured amplitude, current density or response to stimulation of NMDA receptors csmith 2011-03-31T01:28:50Z MPheno.ontology MP:0011001 absence of AMPA-mediated synaptic currents MP:0011001 absence of a measured amplitude, current density or response to stimulation of NMDA receptors https://orcid.org/0000-0003-3691-0324 increase in the measured amplitude, current density or duration of response to stimulation of AMPA receptors csmith 2011-03-31T01:30:14Z MPheno.ontology MP:0011002 enhanced AMPA-mediated synaptic currents MP:0011002 increase in the measured amplitude, current density or duration of response to stimulation of AMPA receptors https://orcid.org/0000-0003-3691-0324 reduction in the measured amplitude, current density or duration of response to stimulation of AMPA receptors csmith 2011-03-31T01:30:27Z MPheno.ontology MP:0011003 reduced AMPA-mediated synaptic currents MP:0011003 reduction in the measured amplitude, current density or duration of response to stimulation of AMPA receptors https://orcid.org/0000-0003-3691-0324 any structural anomaly of a somatic stem cell that is part of the epidermis csmith 2011-03-31T01:57:30Z CL:1000428 FMA:70541 abnormal stem cell of epidermis MPheno.ontology MP:0011004 abnormal epidermal stem cell morphology MP:0011004 any structural anomaly of a somatic stem cell that is part of the epidermis CL:1000428 any functional anomaly of a somatic stem cell that is part of the epidermis csmith 2011-03-31T01:59:49Z MPheno.ontology MP:0011005 abnormal epidermal stem cell physiology MP:0011005 any functional anomaly of a somatic stem cell that is part of the epidermis CL:1000428 anomaly in the ability of a somatic stem cell population that is part of the epidermis to undergo expansion by cell division csmith 2011-03-31T02:01:03Z MPheno.ontology MP:0011006 abnormal epidermal stem cell proliferation MP:0011006 anomaly in the ability of a somatic stem cell population that is part of the epidermis to undergo expansion by cell division https://orcid.org/0000-0003-3691-0324 change in the timing or the number of somatic stem cells that are part of the epidermis, undergoing programmed cell death csmith 2011-03-31T02:01:03Z MPheno.ontology MP:0011007 abnormal epidermal stem cell apoptosis MP:0011007 change in the timing or the number of somatic stem cells that are part of the epidermis, undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 any anomaly in the concentration in the blood of the enzymes which catalyze the reaction of L-glutamate, water and NAD+, producing alpha-ketoglutarate, ammonia, and NADH csmith 2011-03-31T03:28:34Z abnormal circulating L-glutamate dehydrogenase level abnormal circulating glutamic acid dehydrogenase level MPheno.ontology MP:0011008 abnormal circulating glutamate dehydrogenase level MP:0011008 any anomaly in the concentration in the blood of the enzymes which catalyze the reaction of L-glutamate, water and NAD+, producing alpha-ketoglutarate, ammonia, and NADH ISBN:0-683-40008-8 increased concentration in the blood of the enzymes which catalyze the reaction of L-glutamate, water and NAD+, producing alpha-ketoglutarate, ammonia, and NADH csmith 2011-03-31T03:34:09Z increased circulating L-glutamate dehydrogenase level increased circulating glutamic acid dehydrogenase level MPheno.ontology MP:0011009 increased circulating glutamate dehydrogenase level MP:0011009 increased concentration in the blood of the enzymes which catalyze the reaction of L-glutamate, water and NAD+, producing alpha-ketoglutarate, ammonia, and NADH ISBN:0-683-40008-8 reduced concentration in the blood of the enzymes which catalyze the reaction of L-glutamate, water and NAD+, producing alpha-ketoglutarate, ammonia, and NADH csmith 2011-03-31T03:34:39Z decreased circulating L-glutamate dehydrogenase level decreased circulating glutamic acid dehydrogenase level reduced circulating L-glutamate dehydrogenase level reduced circulating glutamate dehydrogenase level reduced circulating glutamic acid dehydrogenase level MPheno.ontology MP:0011010 decreased circulating glutamate dehydrogenase level MP:0011010 reduced concentration in the blood of the enzymes which catalyze the reaction of L-glutamate, water and NAD+, producing alpha-ketoglutarate, ammonia, and NADH ISBN:0-683-40008-8 failure to form any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung csmith 2011-04-06T12:15:05Z MPheno.ontology MP:0011011 impaired lung lobe morphogenesis MP:0011011 failure to form any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung https://orcid.org/0000-0002-6490-7723 a chronic inflammatory or degenerative condition marked by permanent dilatation (widening) of one or more bronchi and loss of elasticity of the bronchial walls csmith 2011-04-06T12:20:51Z bronchiectasia MPheno.ontology MP:0011012 bronchiectasis MP:0011012 a chronic inflammatory or degenerative condition marked by permanent dilatation (widening) of one or more bronchi and loss of elasticity of the bronchial walls https://orcid.org/0000-0002-6490-7723 a chronic inflammatory or degenerative condition marked by permanent dilatation (widening) of one or more bronchioles and loss of elasticity of the bronchiolar walls csmith 2011-04-06T12:23:09Z bronchiolectasia MPheno.ontology MP:0011013 bronchiolectasis MP:0011013 a chronic inflammatory or degenerative condition marked by permanent dilatation (widening) of one or more bronchioles and loss of elasticity of the bronchiolar walls ISBN:0-683-40008-8 reduced degree of heat natural to the internal center of a living being csmith 2011-04-06T01:03:06Z reduced core body temperature MPheno.ontology MP:0011014 decreased core body temperature MP:0011014 reduced degree of heat natural to the internal center of a living being https://orcid.org/0000-0003-4606-0597 reduced degree of heat natural to skin-environment interface of a living being csmith 2011-04-06T01:03:25Z reduced body surface temperature MPheno.ontology MP:0011015 decreased body surface temperature MP:0011015 reduced degree of heat natural to skin-environment interface of a living being https://orcid.org/0000-0003-4606-0597 increased degree of heat natural to the internal center of a living being csmith 2011-04-06T01:15:13Z hyperpyrexia MPheno.ontology MP:0011016 increased core body temperature MP:0011016 increased degree of heat natural to the internal center of a living being https://orcid.org/0000-0003-4606-0597 hyperpyrexia https://orcid.org/0000-0002-6490-7723 increased degree of heat natural to the skin-environment interface of a living being csmith 2011-04-06T01:15:13Z increased surface body temperature MPheno.ontology MP:0011017 increased body surface temperature MP:0011017 increased degree of heat natural to the skin-environment interface of a living being https://orcid.org/0000-0003-4606-0597 abnormal presence of an eosinophilic hyaline (glass-like) material composed of fibrin, proteinaceous exudate and cellular debris, and lining or filling the alveoli, alveolar ducts and bronchioles; hyaline membranes block gas exchange and are usually found at autopsy in individuals that have died of respiratory distress syndrome in the neonatal stages csmith 2011-04-06T01:23:04Z MPheno.ontology MP:0011018 pulmonary hyaline membrane formation MP:0011018 abnormal presence of an eosinophilic hyaline (glass-like) material composed of fibrin, proteinaceous exudate and cellular debris, and lining or filling the alveoli, alveolar ducts and bronchioles; hyaline membranes block gas exchange and are usually found at autopsy in individuals that have died of respiratory distress syndrome in the neonatal stages https://orcid.org/0000-0002-6490-7723 anomaly in the regulated production of heat in response to short term environmental changes, such as stress, diet or reduced temperature, often resulting in metabolic inefficiency or death csmith 2011-04-06T01:33:56Z abnormal adaptive thermoregulation abnormal cold adaptation abnormal cold tolerance abnormal shivering response MPheno.ontology MP:0011019 abnormal adaptive thermogenesis MP:0011019 anomaly in the regulated production of heat in response to short term environmental changes, such as stress, diet or reduced temperature, often resulting in metabolic inefficiency or death PMID:16836744 any anomaly in the process in which an organism modulates its internal body temperature at different values with a regularity of approximately 24 hours csmith 2011-04-06T02:05:49Z abnormal circadian regulation of body temperature abnormal circadian thermoregulation MPheno.ontology MP:0011020 abnormal circadian temperature homeostasis MP:0011020 any anomaly in the process in which an organism modulates its internal body temperature at different values with a regularity of approximately 24 hours GO:0060086 anomaly in the process in which an organism modulates its heart rate at different values with a regularity of approximately 24 hours csmith 2011-04-06T02:50:09Z abnormal circadian regulation of heart contraction rate MPheno.ontology MP:0011021 abnormal circadian regulation of heart rate MP:0011021 anomaly in the process in which an organism modulates its heart rate at different values with a regularity of approximately 24 hours GO:0003053 any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours csmith 2011-04-06T02:52:11Z MPheno.ontology MP:0011022 abnormal circadian regulation of systemic arterial blood pressure MP:0011022 any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours GO:0003052 OBSOLETE. absence of cilia which have a variable arrangement, often with a 9 + 2 microtubular arrangement, of axonemal microtubules, contain molecular motors, and beat with a characteristic whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface; motile cilia are typically found in multiple copies on epithelial cells that line the lumenal ducts of various tissues MP:0004132 MP:0004518 MP:0004526 MP:0004530 MP:0004535 MP:0011054 MP:0011057 MP:0011063 MP:0011645 mgi 2011-04-07T02:19:30Z absent motile secondary cilia MPheno.ontology MP:0011023 obsolete absent motile cilia true MP:0011023 OBSOLETE. absence of cilia which have a variable arrangement, often with a 9 + 2 microtubular arrangement, of axonemal microtubules, contain molecular motors, and beat with a characteristic whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface; motile cilia are typically found in multiple copies on epithelial cells that line the lumenal ducts of various tissues GO:0031514 anomaly in the process in which the branched structure of the respiratory airway tree is generated and organized mgi 2011-04-07T02:56:11Z MPheno.ontology MP:0011024 abnormal branching involved in lung morphogenesis MP:0011024 anomaly in the process in which the branched structure of the respiratory airway tree is generated and organized https://orcid.org/0000-0003-3691-0324 anomaly in the process in which the two main branches of the trachea is generated and organized mgi 2011-04-07T03:03:12Z MPheno.ontology MP:0011025 abnormal branching involved in trachea morphogenesis MP:0011025 anomaly in the process in which the two main branches of the trachea is generated and organized https://orcid.org/0000-0003-3691-0324 partial or complete failure of the process in which the two main branches of the trachea is generated and organized mgi 2011-04-07T03:03:12Z MPheno.ontology MP:0011026 impaired branching involved in trachea morphogenesis MP:0011026 partial or complete failure of the process in which the two main branches of the trachea is generated and organized https://orcid.org/0000-0003-3691-0324 anomaly in the process in which the branched structure of the bronchus is generated and organized mgi 2011-04-07T03:03:12Z MPheno.ontology MP:0011027 abnormal branching involved in bronchus morphogenesis MP:0011027 anomaly in the process in which the branched structure of the bronchus is generated and organized https://orcid.org/0000-0003-3691-0324 partial or complete failure of the process in which the branched structure of the bronchus is generated and organized mgi 2011-04-07T03:03:12Z MPheno.ontology MP:0011028 impaired branching involved in bronchus morphogenesis MP:0011028 partial or complete failure of the process in which the branched structure of the bronchus is generated and organized https://orcid.org/0000-0003-3691-0324 anomaly in the process in which the branched structure of the preterminal bronchioles are generated and organized mgi 2011-04-07T03:03:12Z MPheno.ontology MP:0011029 abnormal branching involved in preterminal bronchiole morphogenesis MP:0011029 anomaly in the process in which the branched structure of the preterminal bronchioles are generated and organized https://orcid.org/0000-0003-3691-0324 partial or complete failure of the process in which the branched structure of the preterminal bronchioles are generated and organized mgi 2011-04-07T03:03:12Z MPheno.ontology MP:0011030 impaired branching involved in preterminal bronchiole morphogenesis MP:0011030 partial or complete failure of the process in which the branched structure of the preterminal bronchioles are generated and organized https://orcid.org/0000-0003-3691-0324 anomaly in the process in which the branched structure of the terminal bronchioles are generated and organized mgi 2011-04-07T03:03:12Z MPheno.ontology MP:0011031 abnormal branching involved in terminal bronchiole morphogenesis MP:0011031 anomaly in the process in which the branched structure of the terminal bronchioles are generated and organized https://orcid.org/0000-0003-3691-0324 partial or complete failure of the process in which the branched structure of the terminal bronchioles are generated and organized mgi 2011-04-07T03:03:12Z MPheno.ontology MP:0011032 impaired branching involved in terminal bronchiole morphogenesis MP:0011032 partial or complete failure of the process in which the branched structure of the terminal bronchioles are generated and organized https://orcid.org/0000-0003-3691-0324 anomaly in the process in which the branched structure of the respiratory bronchioles are generated mgi 2011-04-07T03:03:12Z MPheno.ontology MP:0011033 abnormal branching involved in respiratory bronchiole morphogenesis MP:0011033 anomaly in the process in which the branched structure of the respiratory bronchioles are generated https://orcid.org/0000-0003-3691-0324 partial or complete failure of the process in which the branched structure of the respiratory bronchioles are generated mgi 2011-04-07T03:03:12Z MPheno.ontology MP:0011034 impaired branching involved in respiratory bronchiole morphogenesis MP:0011034 partial or complete failure of the process in which the branched structure of the respiratory bronchioles are generated https://orcid.org/0000-0003-3691-0324 anomaly in the process in which the branched structure of the alveolar ducts are generated mgi 2011-04-07T03:03:12Z MPheno.ontology MP:0011035 abnormal branching involved in alveolar duct morphogenesis MP:0011035 anomaly in the process in which the branched structure of the alveolar ducts are generated https://orcid.org/0000-0003-3691-0324 partial or complete failure of the process in which the branched structure of the alveolar ducts are generated mgi 2011-04-07T03:03:12Z MPheno.ontology MP:0011036 impaired branching involved in alveolar duct morphogenesis MP:0011036 partial or complete failure of the process in which the branched structure of the alveolar ducts are generated https://orcid.org/0000-0003-3691-0324 anomaly in the process in which the terminal alveolar sacs are generated mgi 2011-04-07T03:03:12Z MPheno.ontology MP:0011037 abnormal branching involved in alveolar sac morphogenesis MP:0011037 anomaly in the process in which the terminal alveolar sacs are generated https://orcid.org/0000-0003-3691-0324 partial or complete failure of the process in which the terminal alveolar sacs are generated mgi 2011-04-07T03:03:12Z MPheno.ontology MP:0011038 impaired branching involved in alveolar sac morphogenesis MP:0011038 partial or complete failure of the process in which the terminal alveolar sacs are generated https://orcid.org/0000-0003-3691-0324 any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system when the test is run without light mgi 2011-04-08T01:03:43Z abnormal VORD MPheno.ontology MP:0011039 abnormal vestibuloocular dark reflex MP:0011039 any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system when the test is run without light https://orcid.org/0000-0003-4606-0597 any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system when the test is run with light mgi 2011-04-08T01:03:43Z abnormal VORL MPheno.ontology MP:0011040 abnormal vestibuloocular light reflex MP:0011040 any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system when the test is run with light https://orcid.org/0000-0003-4606-0597 any anomaly in the nystagmus or deviation of the eyes in response to stimulation along the vertical axis of the vestibular system mgi 2011-04-08T01:03:43Z MPheno.ontology MP:0011041 abnormal vertical vestibuloocular reflex MP:0011041 any anomaly in the nystagmus or deviation of the eyes in response to stimulation along the vertical axis of the vestibular system https://orcid.org/0000-0003-4606-0597 any anomaly in the nystagmus or deviation of the eyes in response to stimulation along the horizontal axis of the vestibular system mgi 2011-04-08T01:03:43Z MPheno.ontology MP:0011042 abnormal horizontal vestibuloocular reflex MP:0011042 any anomaly in the nystagmus or deviation of the eyes in response to stimulation along the horizontal axis of the vestibular system https://orcid.org/0000-0003-4606-0597 anomaly in the ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance mgi 2011-04-08T01:13:37Z abnormal lung elasticity abnormal pulmonary elastance MPheno.ontology MP:0011043 abnormal lung elastance MP:0011043 anomaly in the ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance https://orcid.org/0000-0002-6490-7723 faster ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance mgi 2011-04-08T01:13:37Z increased lung elasticity increased pulmonary elastance MPheno.ontology MP:0011044 increased lung elastance MP:0011044 faster ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance https://orcid.org/0000-0002-6490-7723 reduced ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance mgi 2011-04-08T01:13:37Z decreased lung elasticity decreased pulmonary elastance reduced lung elastance reduced lung elasticity reduced pulmonary elastance MPheno.ontology MP:0011045 decreased lung elastance MP:0011045 reduced ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance https://orcid.org/0000-0002-6490-7723 anomaly in the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues mgi 2011-04-08T01:22:33Z MPheno.ontology MP:0011046 abnormal lung tissue damping MP:0011046 anomaly in the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues https://orcid.org/0000-0002-6490-7723 increased value of the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues mgi 2011-04-08T01:23:33Z MPheno.ontology MP:0011047 increased lung tissue damping MP:0011047 increased value of the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues https://orcid.org/0000-0002-6490-7723 reduced value of the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues mgi 2011-04-08T01:23:33Z MPheno.ontology reduced lung tissue damping MP:0011048 decreased lung tissue damping MP:0011048 reduced value of the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues https://orcid.org/0000-0002-6490-7723 inability or reduced ability to produce heat in response to short term environmental changes, such as stress, diet or reduced temperature, often resulting in metabolic inefficiency or death mgi 2011-04-08T01:45:22Z impaired adaptive thermoregulation impaired cold adaptation impaired cold tolerance impaired shivering response MPheno.ontology MP:0011049 impaired adaptive thermogenesis MP:0011049 inability or reduced ability to produce heat in response to short term environmental changes, such as stress, diet or reduced temperature, often resulting in metabolic inefficiency or death PMID:16836744 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract csmith 2011-04-14T09:50:52Z abnormal airway cilia morphology abnormal airway cilium morphology abnormal respiratory cilia morphology abnormal respiratory cilium morphology abnormal respiratory tract cilia morphology abnormal respiratory tract cilium morphology MPheno.ontology MP:0011050 abnormal respiratory motile cilium morphology MP:0011050 any structural anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract GO:0031514 https://orcid.org/0000-0002-6490-7723 anomaly in the number of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract csmith 2011-04-14T11:00:43Z abnormal airway cilia number abnormal airway cilium number abnormal respiratory cilia number abnormal respiratory cilium number abnormal respiratory tract cilia number abnormal respiratory tract cilium number MPheno.ontology MP:0011051 abnormal respiratory motile cilium number MP:0011051 anomaly in the number of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract GO:0031514 https://orcid.org/0000-0002-6490-7723 greater number of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract csmith 2011-04-14T11:05:37Z increased airway cilia number increased airway cilium number increased respiratory cilia number increased respiratory cilium number increased respiratory tract cilia number increased respiratory tract cilium number MPheno.ontology MP:0011052 increased respiratory motile cilia number MP:0011052 greater number of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract GO:0031514 https://orcid.org/0000-0002-6490-7723 reduced number of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract csmith 2011-04-14T11:05:37Z decreased airway cilia number decreased airway cilium number decreased respiratory cilia number decreased respiratory cilium number decreased respiratory tract cilia number decreased respiratory tract cilium number MPheno.ontology MP:0011053 decreased respiratory motile cilia number MP:0011053 reduced number of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract GO:0031514 https://orcid.org/0000-0002-6490-7723 absence of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract csmith 2011-04-14T11:05:37Z absent airway cilia absent airway cilium absent respiratory cilia absent respiratory cilium absent respiratory tract cilia absent respiratory tract cilium MPheno.ontology MP:0011054 absent respiratory motile cilia MP:0011054 absence of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract GO:0031514 https://orcid.org/0000-0002-6490-7723 any functional anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract; may include alterations in ciliary beating pattern or frequency csmith 2011-04-14T11:05:37Z abnormal airway cilia physiology abnormal airway cilium physiology abnormal respiratory cilia physiology abnormal respiratory cilium physiology abnormal respiratory tract cilia physiology abnormal respiratory tract cilium physiology MPheno.ontology MP:0011055 abnormal respiratory motile cilium physiology MP:0011055 any functional anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract; may include alterations in ciliary beating pattern or frequency GO:0031514 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid csmith 2011-04-14T11:48:18Z abnormal brain ependyma motile cilia morphology abnormal brain ventricle motile cilium morphology MPheno.ontology MP:0011056 abnormal brain ependyma motile cilium morphology MP:0011056 any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid https://orcid.org/0000-0003-3691-0324 absence of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid csmith 2011-04-14T11:48:40Z absent brain ependyma motile cilium MPheno.ontology MP:0011057 absent brain ependyma motile cilia MP:0011057 absence of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid https://orcid.org/0000-0003-3691-0324 any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid csmith 2011-04-14T11:49:46Z abnormal spinal cord motile cilia morphology MPheno.ontology MP:0011058 abnormal spinal cord motile cilium morphology MP:0011058 any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid https://orcid.org/0000-0003-3691-0324 any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain and the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid around the central nervous system csmith 2011-04-14T11:50:19Z abnormal ependyma motile cilia morphology MPheno.ontology MP:0011059 abnormal ependyma motile cilium morphology MP:0011059 any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain and the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid around the central nervous system https://orcid.org/0000-0003-3691-0324 any structural anomaly of the nonmotile primary cilium that is found at the apical surface of auditory receptor cells csmith 2011-04-14T12:47:59Z abnormal kinocilia morphology MPheno.ontology MP:0011060 abnormal kinocilium morphology MP:0011060 any structural anomaly of the nonmotile primary cilium that is found at the apical surface of auditory receptor cells GO:0060091 any structural anomaly of the nonmotile primary cilium that is found at the apical surface of inner hair cells csmith 2011-04-14T12:49:07Z abnormal inner hair cell kinocilia morphology MPheno.ontology MP:0011061 abnormal inner hair cell kinocilium morphology MP:0011061 any structural anomaly of the nonmotile primary cilium that is found at the apical surface of inner hair cells GO:0060091 any structural anomaly of the nonmotile primary cilium that is found at the apical surface of outer hair cells csmith 2011-04-14T12:49:07Z abnormal outer hair cell kinocilia morphology MPheno.ontology MP:0011062 abnormal outer hair cell kinocilium morphology MP:0011062 any structural anomaly of the nonmotile primary cilium that is found at the apical surface of outer hair cells GO:0060091 absence of the nonmotile primary cilium that is found at the apical surface of inner hair cells csmith 2011-04-14T12:55:20Z MPheno.ontology MP:0011063 absent inner hair cell kinocilia MP:0011063 absence of the nonmotile primary cilium that is found at the apical surface of inner hair cells GO:0060091 any structural anomaly of the nonmotile primary cilium that is found at the apical surface of vestibular hair cells csmith 2011-04-14T12:59:19Z abnormal vestibular hair cell kinocilia morphology MPheno.ontology MP:0011064 abnormal vestibular hair cell kinocilium morphology MP:0011064 any structural anomaly of the nonmotile primary cilium that is found at the apical surface of vestibular hair cells GO:0060091 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the single non-motile cilium of a kidney epithelial cell that projects into the luminal space of the tubules and ducts where it is thought to act as a flow sensor csmith 2011-04-14T01:42:38Z abnormal kidney epithelial cell primary cilia morphology abnormal renal epithelial cell primary cilia morphology abnormal renal epithelial cell primary cilium morphology abnormal renal primary cilium morphology MPheno.ontology MP:0011065 abnormal kidney epithelial cell primary cilium morphology MP:0011065 any structural anomaly of the single non-motile cilium of a kidney epithelial cell that projects into the luminal space of the tubules and ducts where it is thought to act as a flow sensor PMID:17995581 any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor csmith 2011-04-14T02:06:26Z abnormal kidney tubule epithelial cell primary cilium morphology abnormal renal tubule epithelial cell primary cilia morphology MPheno.ontology MP:0011066 abnormal renal tubule epithelial cell primary cilium morphology MP:0011066 any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor PMID:17995581 https://orcid.org/0000-0003-3691-0324 anomaly of the blood or tissue concentration of a tetradecapeptide capable of inhibiting the release of somatotrophin by the anterior lobe of the pituitary gland and the release of insulin and gastrin from digestive system tissues csmith 2011-04-14T03:02:46Z abnormal GHIH level abnormal growth hormone-inhibiting hormone level abnormal somatotrophin release-inhibiting factor level abnormal somatotrophin release-inhibiting hormone level MPheno.ontology abnormal SRIF level MP:0011067 abnormal somatostatin level MP:0011067 anomaly of the blood or tissue concentration of a tetradecapeptide capable of inhibiting the release of somatotrophin by the anterior lobe of the pituitary gland and the release of insulin and gastrin from digestive system tissues ISBN:0-683-40008-8 any functional anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain and the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid around the central nervous system csmith 2011-04-14T03:15:16Z abnormal ependyma motile cilia physiology MPheno.ontology MP:0011068 abnormal ependyma motile cilium physiology MP:0011068 any functional anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain and the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid around the central nervous system https://orcid.org/0000-0003-3691-0324 any functional anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid csmith 2011-04-14T03:16:27Z abnormal brain ventricle motile cilium physiology MPheno.ontology abnormal brain ependyma motile cilia physiology MP:0011069 abnormal brain ependyma motile cilium physiology MP:0011069 any functional anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid https://orcid.org/0000-0003-3691-0324 any functional anomaly of the tiny, motile hair-like projections from the epithelial cells that line the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid csmith 2011-04-14T03:17:05Z abnormal spinal cord motile cilia physiology MPheno.ontology MP:0011070 abnormal spinal cord motile cilium physiology MP:0011070 any functional anomaly of the tiny, motile hair-like projections from the epithelial cells that line the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid https://orcid.org/0000-0003-3691-0324 absence of the rounded, club-shaped, nonciliated cells found between ciliated cells in the bronchiolar epithelium csmith 2011-04-15T02:00:35Z absent Clara cells absent bronchiolar exocrine cells MPheno.ontology MP:0011071 absent club cells MP:0011071 absence of the rounded, club-shaped, nonciliated cells found between ciliated cells in the bronchiolar epithelium https://orcid.org/0000-0002-6490-7723 any anomaly in the appearance of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in a change to its intracellular or extracellular levels csmith 2011-04-15T02:56:24Z MPheno.ontology MP:0011072 abnormal macrophage cytokine production MP:0011072 any anomaly in the appearance of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in a change to its intracellular or extracellular levels GO:0010934 excessive or absent cell death in macrophages csmith 2011-04-15T02:58:41Z MPheno.ontology MP:0011073 abnormal macrophage apoptosis MP:0011073 excessive or absent cell death in macrophages ISBN:0-683-40008-8 any anomaly in the appearance of macrophage-derived nitric oxide due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels csmith 2011-04-15T03:08:25Z abnormal macrophage NO production MPheno.ontology MP:0011074 abnormal macrophage nitric oxide production MP:0011074 any anomaly in the appearance of macrophage-derived nitric oxide due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels https://orcid.org/0000-0003-3691-0324 anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response csmith 2011-04-15T03:11:40Z MPheno.ontology MP:0011075 abnormal macrophage activation involved in immune response MP:0011075 anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response GO:0002281 greater production of macrophage-derived nitric oxide due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels csmith 2011-04-15T03:18:03Z increased macrophage NO production MPheno.ontology MP:0011076 increased macrophage nitric oxide production MP:0011076 greater production of macrophage-derived nitric oxide due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels https://orcid.org/0000-0003-3691-0324 reduced production of macrophage-derived nitric oxide due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels csmith 2011-04-15T03:18:03Z decreased macrophage NO production reduced macrophage NO production reduced macrophage nitric oxide production MPheno.ontology MP:0011077 decreased macrophage nitric oxide production MP:0011077 reduced production of macrophage-derived nitric oxide due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels https://orcid.org/0000-0003-3691-0324 greater production of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels csmith 2011-04-15T03:20:18Z MPheno.ontology MP:0011078 increased macrophage cytokine production MP:0011078 greater production of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels https://orcid.org/0000-0003-3691-0324 reduced production of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in an decrease in its intracellular or extracellular levels csmith 2011-04-15T03:20:37Z MPheno.ontology MP:0011079 decreased macrophage cytokine production MP:0011079 reduced production of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in an decrease in its intracellular or extracellular levels https://orcid.org/0000-0003-3691-0324 greater incidence of cell death in macrophages csmith 2011-04-15T03:22:52Z MPheno.ontology MP:0011080 increased macrophage apoptosis MP:0011080 greater incidence of cell death in macrophages https://orcid.org/0000-0003-3691-0324 reduced incidence of cell death in macrophages csmith 2011-04-15T03:22:52Z reduced macrophage apoptosis MPheno.ontology MP:0011081 decreased macrophage apoptosis MP:0011081 reduced incidence of cell death in macrophages https://orcid.org/0000-0003-3691-0324 anomaly in the propulsive movements of the digestive system, resulting in the transit of the contents along the gastrointestinal tract csmith 2011-04-15T03:48:24Z MPheno.ontology MP:0011082 abnormal gastrointestinal motility MP:0011082 anomaly in the propulsive movements of the digestive system, resulting in the transit of the contents along the gastrointestinal tract https://orcid.org/0000-0003-3691-0324 premature death at weaning age of all organisms of a given genotype in a population, often due to the inability to make the transition to solid food csmith 2011-04-26T09:13:15Z complete lethality at weaning MPheno.ontology MP:0011083 lethality at weaning, complete penetrance MP:0011083 premature death at weaning age of all organisms of a given genotype in a population, often due to the inability to make the transition to solid food https://orcid.org/0000-0003-3691-0324 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at weaning age csmith 2011-04-26T09:13:38Z partial lethality at weaning MPheno.ontology MP:0011084 lethality at weaning, incomplete penetrance MP:0011084 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at weaning age https://orcid.org/0000-0003-3691-0324 premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) csmith 2011-04-26T09:16:20Z complete postnatal lethality juvenile lethality, complete penetrance MPheno.ontology MP:0011085 postnatal lethality, complete penetrance MP:0011085 premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) https://orcid.org/0000-0003-3691-0324 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age) csmith 2011-04-26T09:16:36Z juvenile lethality, incomplete penetrance partial postnatal lethality MPheno.ontology MP:0011086 postnatal lethality, incomplete penetrance MP:0011086 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age) https://orcid.org/0000-0003-3691-0324 death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0) csmith 2011-04-26T09:39:34Z complete neonatal lethality MPheno.ontology MP:0011087 neonatal lethality, complete penetrance MP:0011087 death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0) https://orcid.org/0000-0003-3691-0324 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0) csmith 2011-04-26T09:39:34Z partial neonatal lethality MPheno.ontology MP:0011088 neonatal lethality, incomplete penetrance MP:0011088 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0) https://orcid.org/0000-0003-3691-0324 death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) csmith 2011-04-26T09:39:34Z complete perinatal lethality MPheno.ontology MP:0011089 perinatal lethality, complete penetrance MP:0011089 death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) https://orcid.org/0000-0003-3691-0324 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1) csmith 2011-04-26T09:39:34Z partial perinatal lethality MPheno.ontology MP:0011090 perinatal lethality, incomplete penetrance MP:0011090 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1) https://orcid.org/0000-0003-3691-0324 death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5) csmith 2011-04-26T03:56:08Z complete prenatal lethality MPheno.ontology MP:0011091 prenatal lethality, complete penetrance MP:0011091 death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5) https://orcid.org/0000-0003-3691-0324 death of all organisms of a given genotype in a population within the embryonic period prior to the completion of organogenesis (Mus: prior to E14) csmith 2011-04-26T03:56:08Z complete embryonic lethality MPheno.ontology MP:0011092 embryonic lethality, complete penetrance MP:0011092 death of all organisms of a given genotype in a population within the embryonic period prior to the completion of organogenesis (Mus: prior to E14) https://orcid.org/0000-0003-3691-0324 death of all organisms of a given genotype in a population at the point of implantation (Mus: E4.5) csmith 2011-04-26T03:56:08Z complete embryonic lethality at implantation MPheno.ontology MP:0011093 embryonic lethality at implantation, complete penetrance MP:0011093 death of all organisms of a given genotype in a population at the point of implantation (Mus: E4.5) https://orcid.org/0000-0003-3691-0324 death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5) csmith 2011-04-26T03:56:08Z complete embryonic lethality before implantation MPheno.ontology MP:0011094 embryonic lethality before implantation, complete penetrance MP:0011094 death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5) https://orcid.org/0000-0003-3691-0324 death of all organisms of a given genotype in a population between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9) csmith 2011-04-26T03:56:08Z complete embryonic lethality between implantation and placentation MPheno.ontology MP:0011095 embryonic lethality between implantation and placentation, complete penetrance MP:0011095 death of all organisms of a given genotype in a population between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9) https://orcid.org/0000-0003-3691-0324 death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8) csmith 2011-04-26T03:56:08Z complete embryonic lethality between implantation and somite formation MPheno.ontology complete embryonic lethality before somite formation MP:0011096 embryonic lethality between implantation and somite formation, complete penetrance MP:0011096 death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8) https://orcid.org/0000-0003-3691-0324 death of all organisms of a given genotype in a population between somite formation and the initiation of embryo turning (Mus: E8 to less than E9) csmith 2011-04-26T03:56:08Z complete embryonic lethality between somite formation and embryo turning MPheno.ontology complete embryonic lethality before turning of embryo MP:0011097 embryonic lethality between somite formation and embryo turning, complete penetrance MP:0011097 death of all organisms of a given genotype in a population between somite formation and the initiation of embryo turning (Mus: E8 to less than E9) https://orcid.org/0000-0003-3691-0324 death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) csmith 2011-04-26T03:56:08Z complete embryonic lethality during organogenesis MPheno.ontology MP:0011098 embryonic lethality during organogenesis, complete penetrance MP:0011098 death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) https://orcid.org/0000-0003-3691-0324 death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) csmith 2011-04-26T03:56:08Z complete lethality throughout fetal growth and development complete lethality throughout foetal growth and development lethality throughout foetal growth and development, complete penetrance MPheno.ontology MP:0011099 lethality throughout fetal growth and development, complete penetrance MP:0011099 death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) https://orcid.org/0000-0003-3691-0324 death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) csmith 2011-04-26T03:56:08Z complete preweaning lethality MPheno.ontology MP:0011100 preweaning lethality, complete penetrance MP:0011100 death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) https://orcid.org/0000-0003-3691-0324 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5) csmith 2011-04-26T03:56:08Z partial prenatal lethality MPheno.ontology MP:0011101 prenatal lethality, incomplete penetrance MP:0011101 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5) https://orcid.org/0000-0003-3691-0324 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the embryonic period prior to the completion of organogenesis (Mus: prior to E14) csmith 2011-04-26T03:56:08Z partial embryonic lethality MPheno.ontology MP:0011102 embryonic lethality, incomplete penetrance MP:0011102 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the embryonic period prior to the completion of organogenesis (Mus: prior to E14) https://orcid.org/0000-0003-3691-0324 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at the point of implantation (Mus: E4.5) csmith 2011-04-26T03:56:08Z partial embryonic lethality at implantation MPheno.ontology MP:0011103 embryonic lethality at implantation, incomplete penetrance MP:0011103 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at the point of implantation (Mus: E4.5) https://orcid.org/0000-0003-3691-0324 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and implantation (Mus: E0 to less than E4.5) csmith 2011-04-26T03:56:08Z partial embryonic lethality before implantation MPheno.ontology MP:0011104 embryonic lethality before implantation, incomplete penetrance MP:0011104 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and implantation (Mus: E0 to less than E4.5) https://orcid.org/0000-0003-3691-0324 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9) csmith 2011-04-26T03:56:08Z partial embryonic lethality between implantation and placentation MPheno.ontology MP:0011105 embryonic lethality between implantation and placentation, incomplete penetrance MP:0011105 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9) https://orcid.org/0000-0003-3691-0324 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the point of implantation and somite formation (Mus: E4.5 to less than E8) csmith 2011-04-26T03:56:08Z partial embryonic lethality between implantation and somite formation MPheno.ontology partial embryonic lethality before somite formation MP:0011106 embryonic lethality between implantation and somite formation, incomplete penetrance MP:0011106 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the point of implantation and somite formation (Mus: E4.5 to less than E8) https://orcid.org/0000-0003-3691-0324 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between somite formation and the initiation of embryo turning (Mus: E8 to less than E9) csmith 2011-04-26T03:56:08Z partial embryonic lethality between somite formation and embryo turning MPheno.ontology partial embryonic lethality before turning of embryo MP:0011107 embryonic lethality between somite formation and embryo turning, incomplete penetrance MP:0011107 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between somite formation and the initiation of embryo turning (Mus: E8 to less than E9) https://orcid.org/0000-0003-3691-0324 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) csmith 2011-04-26T03:56:08Z partial embryonic lethality during organogenesis MPheno.ontology MP:0011108 embryonic lethality during organogenesis, incomplete penetrance MP:0011108 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) https://orcid.org/0000-0003-3691-0324 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) csmith 2011-04-26T03:56:08Z lethality throughout foetal growth and development, incomplete penetrance partial lethality throughout fetal growth and development partial lethality throughout foetal growth and development MPheno.ontology MP:0011109 lethality throughout fetal growth and development, incomplete penetrance MP:0011109 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) https://orcid.org/0000-0003-3691-0324 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age) csmith 2011-04-26T03:56:08Z partial preweaning lethality MPheno.ontology MP:0011110 preweaning lethality, incomplete penetrance MP:0011110 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age) https://orcid.org/0000-0003-3691-0324 death of all organisms of a given genotype in a population between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age) csmith 2011-04-26T03:57:54Z complete lethality during fetal growth through weaning complete lethality during foetal growth through weaning lethality during foetal growth through weaning, complete penetrance MPheno.ontology MP:0011111 lethality during fetal growth through weaning, complete penetrance MP:0011111 death of all organisms of a given genotype in a population between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age) https://orcid.org/0000-0003-3691-0324 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age) csmith 2011-04-26T03:57:54Z lethality during foetal growth through weaning, incomplete penetrance partial lethality during fetal growth through weaning partial lethality during foetal growth through weaning MPheno.ontology MP:0011112 lethality during fetal growth through weaning, incomplete penetrance MP:0011112 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age) https://orcid.org/0000-0003-3691-0324 any structural anomaly of a long-lived multipotent stem cell of the pseudostratified airway epithelium which is restricted to the tracheal epithelium in mice; airway BCs have been shown to be capable of self renewal, give rise to secretory (Clara) cells and ciliated cells, and play important roles both in epithelial homeostasis and in pathological airway remodeling csmith 2011-05-11T04:13:01Z MPheno.ontology MP:0011113 abnormal airway basal cell morphology MP:0011113 any structural anomaly of a long-lived multipotent stem cell of the pseudostratified airway epithelium which is restricted to the tracheal epithelium in mice; airway BCs have been shown to be capable of self renewal, give rise to secretory (Clara) cells and ciliated cells, and play important roles both in epithelial homeostasis and in pathological airway remodeling PMID:20699479 https://orcid.org/0000-0002-6490-7723 abnormal or arrest of differentiation of the long-lived multipotent stem cell population of the pseudostratified airway epithelium; changes in the lineage choice of BCs or their undifferentiated daughters might contribute to the mucous cell hyperplasia, metaplasia or squamous metaplasia seen in many respiratory disorders csmith 2011-05-11T04:19:42Z MPheno.ontology MP:0011114 abnormal airway basal cell differentiation MP:0011114 abnormal or arrest of differentiation of the long-lived multipotent stem cell population of the pseudostratified airway epithelium; changes in the lineage choice of BCs or their undifferentiated daughters might contribute to the mucous cell hyperplasia, metaplasia or squamous metaplasia seen in many respiratory disorders PMID:17909629 https://orcid.org/0000-0002-6490-7723 increased number of the long-lived multipotent stem cells of the pseudostratified airway epithelium csmith 2011-05-11T04:19:42Z increased airway basal cell number MPheno.ontology MP:0011115 airway basal cell hyperplasia MP:0011115 increased number of the long-lived multipotent stem cells of the pseudostratified airway epithelium https://orcid.org/0000-0002-6490-7723 absence of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal endoderm; normally required for the maternofetal exchange of nutrients and important for postgastrulation development csmith 2011-05-11T04:24:38Z MPheno.ontology MP:0011116 absent Reichert's membrane MP:0011116 absence of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal endoderm; normally required for the maternofetal exchange of nutrients and important for postgastrulation development https://orcid.org/0000-0002-6490-7723 anomaly in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake csmith 2011-05-20T11:20:20Z MPheno.ontology MP:0011117 These terms should be used when there is some external intervention that is expected to alter the weight of both the experimental and control groups or for alterantions in age-related changes in body weight. abnormal susceptibility to weight gain MP:0011117 anomaly in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake https://orcid.org/0000-0003-3691-0324 anomaly in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction csmith 2011-05-20T11:21:59Z MPheno.ontology MP:0011118 abnormal susceptibility to weight loss MP:0011118 anomaly in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction https://orcid.org/0000-0003-3691-0324 abnormal numbers of the ovarian follicle that is indiscernible to the naked eye and develops into to primary, secondary, and finally mature vesicular follicles csmith 2011-05-20T11:35:03Z MPheno.ontology MP:0011119 abnormal primordial ovarian follicle number MP:0011119 abnormal numbers of the ovarian follicle that is indiscernible to the naked eye and develops into to primary, secondary, and finally mature vesicular follicles UBERON:0003981 greater than normal numbers of the ovarian follicle that is indiscernible to the naked eye and develops into to primary, secondary, and finally mature vesicular follicles csmith 2011-05-20T11:35:03Z MPheno.ontology MP:0011120 increased primordial ovarian follicle number MP:0011120 greater than normal numbers of the ovarian follicle that is indiscernible to the naked eye and develops into to primary, secondary, and finally mature vesicular follicles UBERON:0003981 fewer than normal numbers of the ovarian follicle that is indiscernible to the naked eye and develops into to primary, secondary, and finally mature vesicular follicles csmith 2011-05-20T11:35:03Z reduced primordial ovarian follicle number MPheno.ontology MP:0011121 decreased primordial ovarian follicle number MP:0011121 fewer than normal numbers of the ovarian follicle that is indiscernible to the naked eye and develops into to primary, secondary, and finally mature vesicular follicles UBERON:0003981 absence of the ovarian follicle that is indiscernible to the naked eye and develops into to primary, secondary, and finally mature vesicular follicles csmith 2011-05-20T11:35:03Z MPheno.ontology MP:0011122 absent primordial ovarian follicles MP:0011122 absence of the ovarian follicle that is indiscernible to the naked eye and develops into to primary, secondary, and finally mature vesicular follicles UBERON:0003981 abnormal numbers of the ovarian follicle that is characterized by the presence of a single layer of granulosa cells csmith 2011-05-20T11:37:49Z abnormal folliculus ovaricus primarius number MPheno.ontology MP:0011123 abnormal primary ovarian follicle number MP:0011123 abnormal numbers of the ovarian follicle that is characterized by the presence of a single layer of granulosa cells UBERON:0000035 greater than normal numbers of the ovarian follicle that is characterized by the presence of a single layer of granulosa cells csmith 2011-05-20T11:37:49Z increased folliculus ovaricus primarius number MPheno.ontology MP:0011124 increased primary ovarian follicle number MP:0011124 greater than normal numbers of the ovarian follicle that is characterized by the presence of a single layer of granulosa cells UBERON:0000035 fewer than normal numbers of the ovarian follicle that is characterized by the presence of a single layer of granulosa cells csmith 2011-05-20T11:37:49Z decreased folliculus ovaricus primarius number reduced folliculus ovaricus primarius number reduced primary ovarian follicle number MPheno.ontology MP:0011125 decreased primary ovarian follicle number MP:0011125 fewer than normal numbers of the ovarian follicle that is characterized by the presence of a single layer of granulosa cells UBERON:0000035 absence of the ovarian follicle that is characterized by the presence of a single layer of granulosa cells csmith 2011-05-20T11:37:49Z absent folliculus ovaricus primarius MPheno.ontology MP:0011126 absent primary ovarian follicles MP:0011126 absence of the ovarian follicle that is characterized by the presence of a single layer of granulosa cells UBERON:0000035 abnormal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers csmith 2011-05-20T11:39:46Z abnormal Graafian follicle number abnormal antral follicle number abnormal folliculus ovaricus tertiarius number abnormal folliculus ovaricus vesiculosus number abnormal vesicular follicle of ovary number abnormal vesicular ovarian follicle number MPheno.ontology MP:0011127 abnormal tertiary ovarian follicle number MP:0011127 abnormal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers UBERON:0000037 https://orcid.org/0000-0003-3691-0324 greater than normal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers csmith 2011-05-20T11:39:46Z increased Graafian follicle number increased antral follicle number increased folliculus ovaricus tertiarius number increased folliculus ovaricus vesiculosus number increased vesicular follicle of ovary number increased vesicular ovarian follicle number MPheno.ontology MP:0011128 increased tertiary ovarian follicle number MP:0011128 greater than normal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers UBERON:0000037 https://orcid.org/0000-0003-3691-0324 fewer than normal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers csmith 2011-05-20T11:39:46Z decreased Graafian follicle number decreased antral follicle number decreased folliculus ovaricus tertiarius number decreased folliculus ovaricus vesiculosus number decreased vesicular follicle of ovary number decreased vesicular ovarian follicle number reduced Graafian follicle number reduced antral follicle number reduced folliculus ovaricus tertiarius number reduced folliculus ovaricus vesiculosus number reduced vesicular follicle of ovary number reduced vesicular ovarian follicle number MPheno.ontology MP:0011129 decreased tertiary ovarian follicle number MP:0011129 fewer than normal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers UBERON:0000037 https://orcid.org/0000-0003-3691-0324 absence of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers csmith 2011-05-20T11:39:46Z absent Graafian follicles absent antral follicles absent folliculus ovaricus tertiarius absent folliculus ovaricus vesiculosus absent vesicular follicles of ovary absent vesicular ovarian follicles MPheno.ontology MP:0011130 absent tertiary ovarian follicles MP:0011130 absence of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers UBERON:0000037 https://orcid.org/0000-0003-3691-0324 any functional anomaly of the squamous cells forming the lining of the pulmonary vasculature csmith 2011-05-20T02:03:47Z abnormal lung microvascular endothelial cell physiology abnormal pulmonary endothelial cell physiology MPheno.ontology MP:0011131 abnormal lung endothelial cell physiology MP:0011131 any functional anomaly of the squamous cells forming the lining of the pulmonary vasculature https://orcid.org/0000-0003-3691-0324 anomaly in the movement of endothelial cells or their precursors to the appropriate location in the pulmonary vasculature csmith 2011-05-20T02:06:38Z abnormal lung microvascular endothelial cell migration abnormal pulmonary endothelial cell migration MPheno.ontology MP:0011132 abnormal lung endothelial cell migration MP:0011132 anomaly in the movement of endothelial cells or their precursors to the appropriate location in the pulmonary vasculature https://orcid.org/0000-0003-3691-0324 increased or faster movement of endothelial cells or their precursors to the appropriate location in the pulmonary vasculature csmith 2011-05-20T02:06:38Z increased lung microvascular endothelial cell migration increased pulmonary endothelial cell migration MPheno.ontology MP:0011133 increased lung endothelial cell migration MP:0011133 increased or faster movement of endothelial cells or their precursors to the appropriate location in the pulmonary vasculature https://orcid.org/0000-0003-3691-0324 reduced or slower movement of endothelial cells or their precursors to the appropriate location in the pulmonary vasculature csmith 2011-05-20T02:06:38Z decreased lung microvascular endothelial cell migration decreased pulmonary endothelial cell migration reduced lung microvascular endothelial cell migration reduced pulmonary endothelial cell migration MPheno.ontology MP:0011134 decreased lung endothelial cell migration MP:0011134 reduced or slower movement of endothelial cells or their precursors to the appropriate location in the pulmonary vasculature https://orcid.org/0000-0003-3691-0324 altered ability of an endothelial cell in the pulmonary vasculature to adhere to another cell or to a non-cellular component of the environment csmith 2011-05-20T02:06:38Z abnormal lung microvascular endothelial cell adhesion abnormal pulmonary endothelial cell adhesion MPheno.ontology MP:0011135 abnormal lung endothelial cell adhesion MP:0011135 altered ability of an endothelial cell in the pulmonary vasculature to adhere to another cell or to a non-cellular component of the environment https://orcid.org/0000-0003-3691-0324 increased ability of an endothelial cell in the pulmonary vasculature to adhere to another cell or to a non-cellular component of the environment csmith 2011-05-20T02:06:38Z increased lung microvascular endothelial cell adhesion increased pulmonary endothelial cell adhesion MPheno.ontology MP:0011136 increased lung endothelial cell adhesion MP:0011136 increased ability of an endothelial cell in the pulmonary vasculature to adhere to another cell or to a non-cellular component of the environment https://orcid.org/0000-0003-3691-0324 decreased ability of an endothelial cell in the pulmonary vasculature to adhere to another cell or to a non-cellular component of the environment csmith 2011-05-20T02:06:38Z decreased lung microvascular endothelial cell adhesion decreased pulmonary endothelial cell adhesion reduced lung microvascular endothelial cell adhesion reduced pulmonary endothelial cell adhesion MPheno.ontology MP:0011137 decreased lung endothelial cell adhesion MP:0011137 decreased ability of an endothelial cell in the pulmonary vasculature to adhere to another cell or to a non-cellular component of the environment https://orcid.org/0000-0003-3691-0324 altered ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division csmith 2011-05-20T02:06:38Z abnormal lung microvascular endothelial cell proliferation abnormal pulmonary endothelial cell proliferation MPheno.ontology MP:0011138 abnormal lung endothelial cell proliferation MP:0011138 altered ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division https://orcid.org/0000-0003-3691-0324 greater ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division csmith 2011-05-20T02:06:38Z increased lung microvascular endothelial cell proliferation increased pulmonary endothelial cell proliferation MPheno.ontology MP:0011139 increased lung endothelial cell proliferation MP:0011139 greater ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division https://orcid.org/0000-0003-3691-0324 reduced ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division csmith 2011-05-20T02:06:38Z decreased lung microvascular endothelial cell proliferation decreased pulmonary endothelial cell proliferation reduced lung microvascular endothelial cell proliferation reduced pulmonary endothelial cell proliferation MPheno.ontology MP:0011140 decreased lung endothelial cell proliferation MP:0011140 reduced ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division https://orcid.org/0000-0003-3691-0324 acceleration in the timing or in the number of endothelial cells in the pulmonary vasculature undergoing programmed cell death csmith 2011-05-20T02:06:38Z abnormal lung microvascular endothelial cell apoptosis abnormal pulmonary endothelial cell apoptosis MPheno.ontology MP:0011141 increased lung endothelial cell apoptosis MP:0011141 acceleration in the timing or in the number of endothelial cells in the pulmonary vasculature undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 abnormality in the formation of the lung tissue comprised of multiple cell types (including connective tissue, endothelial cells, lymphatics, smooth muscle cells surrounding airways and blood vessels, myofibroblasts involved in septum formation, and cartilage-forming cells in the trachea), with most cells thought to be derived from the splanchnic mesenchyme, and other cells (endothelial, smooth muscle) believed to invade the lung as it expands; lung mesenchyme is a critical determinant of the shape and size of the developing lung, the extent and patterning of epithelial branching, and the formation of the pulmonary vasculature and interstitial mesenchymal components of the adult lung csmith 2011-05-20T04:11:17Z abnormal lung mesenchyme development abnormal pulmonary mesenchyme development MPheno.ontology MP:0011142 abnormal lung-associated mesenchyme development MP:0011142 abnormality in the formation of the lung tissue comprised of multiple cell types (including connective tissue, endothelial cells, lymphatics, smooth muscle cells surrounding airways and blood vessels, myofibroblasts involved in septum formation, and cartilage-forming cells in the trachea), with most cells thought to be derived from the splanchnic mesenchyme, and other cells (endothelial, smooth muscle) believed to invade the lung as it expands; lung mesenchyme is a critical determinant of the shape and size of the developing lung, the extent and patterning of epithelial branching, and the formation of the pulmonary vasculature and interstitial mesenchymal components of the adult lung PMID:18533146 PMID:20048339 https://orcid.org/0000-0002-6490-7723 increased thickness of the mesenchymal cell layer due to delay or failure of the mesenchymal compartment to thin down during the late stages of embryonic lung development csmith 2011-05-20T04:11:17Z expanded lung mesenchyme thick pulmonary mesenchyme thickened lung mesenchyme MPheno.ontology MP:0011143 thick lung-associated mesenchyme MP:0011143 increased thickness of the mesenchymal cell layer due to delay or failure of the mesenchymal compartment to thin down during the late stages of embryonic lung development https://orcid.org/0000-0002-6490-7723 decreased thickness of the mesenchymal cell layer in the developing lung csmith 2011-05-20T04:11:17Z reduced lung mesenchyme thin pulmonary mesenchyme thinned lung mesenchyme MPheno.ontology MP:0011144 thin lung-associated mesenchyme MP:0011144 decreased thickness of the mesenchymal cell layer in the developing lung https://orcid.org/0000-0002-6490-7723 abnormal or arrest of differentiation of the mesenchymal cell population in the developing lung csmith 2011-05-20T04:11:17Z abnormal lung mesenchymal cell differentiation abnormal pulmonary mesenchymal cell differentiation MPheno.ontology MP:0011145 abnormal mesenchymal cell differentiation involved in lung development MP:0011145 abnormal or arrest of differentiation of the mesenchymal cell population in the developing lung https://orcid.org/0000-0002-6490-7723 anomaly in the ability of the differentiating lung mesenchymal cell population to undergo expansion by cell division in the developing lung csmith 2011-05-20T04:11:17Z abnormal lung mesenchymal cell proliferation abnormal pulmonary mesenchymal cell proliferation MPheno.ontology MP:0011146 abnormal mesenchymal cell proliferation involved in lung development MP:0011146 anomaly in the ability of the differentiating lung mesenchymal cell population to undergo expansion by cell division in the developing lung https://orcid.org/0000-0002-6490-7723 increase in the expansion rate of a lung mesenchymal cell population by cell division csmith 2011-05-20T04:11:17Z increased lung mesenchymal cell proliferation increased pulmonary mesenchymal cell proliferation MPheno.ontology MP:0011147 increased mesenchymal cell proliferation involved in lung development MP:0011147 increase in the expansion rate of a lung mesenchymal cell population by cell division https://orcid.org/0000-0002-6490-7723 reduction in the expansion rate of a lung mesenchymal cell population by cell division csmith 2011-05-20T04:11:17Z decreased lung mesenchymal cell proliferation decreased pulmonary mesenchymal cell proliferation MPheno.ontology MP:0011148 decreased mesenchymal cell proliferation involved in lung development MP:0011148 reduction in the expansion rate of a lung mesenchymal cell population by cell division https://orcid.org/0000-0002-6490-7723 any structural anomaly in the thin stratum in the hippocampus that is immediately deep to the molecular layer, and is superficial to the stratum radiatum csmith 2011-05-23T03:29:51Z MPheno.ontology MP:0011149 abnormal hippocampus stratum lacunosum morphology MP:0011149 any structural anomaly in the thin stratum in the hippocampus that is immediately deep to the molecular layer, and is superficial to the stratum radiatum http://purl.obolibrary.org/obo/UBERON_0005370 any structural anomaly of the layer that is part of the CA fields of the hippocampus consisting of a narrow relatively cell free layer located deep to the pyramidal cell layer extending through areas CA1, CA2 and CA3 csmith 2011-05-23T03:29:51Z MPheno.ontology MP:0011150 abnormal hippocampus stratum oriens morphology MP:0011150 any structural anomaly of the layer that is part of the CA fields of the hippocampus consisting of a narrow relatively cell free layer located deep to the pyramidal cell layer extending through areas CA1, CA2 and CA3 NIFSTD:birnlex_4113 UBERON_0005371 any structural anomaly of the layer located immediately above the pyramidal cell layer in CA2 and CA1 and superficial to the stratum lucidum in CA3. Suprapyramidal region in which CA3 to CA3 associational connections and CA3 to CA1 Schaffer collateral connections are located csmith 2011-05-23T03:29:51Z MPheno.ontology MP:0011151 abnormal hippocampus stratum radiatum morphology MP:0011151 any structural anomaly of the layer located immediately above the pyramidal cell layer in CA2 and CA1 and superficial to the stratum lucidum in CA3. Suprapyramidal region in which CA3 to CA3 associational connections and CA3 to CA1 Schaffer collateral connections are located NIFSTD:birnlex_1298 UBERON_0005372 increase in the width of the cytoarchitectural region of the hippocampus consisting of a composite of the two outermost layers of the hippocampus, the Stratum lacunosum-moleculare and the Stratum radiatum csmith 2011-05-23T03:29:51Z thick stratum moleculare MPheno.ontology MP:0011152 thick hippocampus molecular cell layer MP:0011152 increase in the width of the cytoarchitectural region of the hippocampus consisting of a composite of the two outermost layers of the hippocampus, the Stratum lacunosum-moleculare and the Stratum radiatum UBERON_0005368 increase in the width of the layer that is part of the CA fields of the hippocampus consisting of a narrow relatively cell free layer located deep to the pyramidal cell layer extending through areas CA1, CA2 and CA3 csmith 2011-05-23T03:29:51Z MPheno.ontology MP:0011153 thick hippocampus stratum oriens MP:0011153 increase in the width of the layer that is part of the CA fields of the hippocampus consisting of a narrow relatively cell free layer located deep to the pyramidal cell layer extending through areas CA1, CA2 and CA3 NIFSTD:birnlex_4113 UBERON_0005371 increase in the width of the layer located immediately above the pyramidal cell layer in CA2 and CA1 and superficial to the stratum lucidum in CA3 csmith 2011-05-23T03:29:51Z MPheno.ontology MP:0011154 thick hippocampus stratum radiatum MP:0011154 increase in the width of the layer located immediately above the pyramidal cell layer in CA2 and CA1 and superficial to the stratum lucidum in CA3 NIFSTD:birnlex_1298 UBERON_0005372 absence of the layer that is part of the CA fields of the hippocampus consisting of a narrow relatively cell free layer located deep to the pyramidal cell layer extending through areas CA1, CA2 and CA3 csmith 2011-05-23T03:30:16Z MPheno.ontology MP:0011155 absent hippocampus stratum oriens MP:0011155 absence of the layer that is part of the CA fields of the hippocampus consisting of a narrow relatively cell free layer located deep to the pyramidal cell layer extending through areas CA1, CA2 and CA3 NIFSTD:birnlex_4113 UBERON_0005371 any structural anomaly of the superficial portion of the subcutaneous tissue which is specialized for fat storage csmith 2011-05-23T03:52:15Z abnormal hypodermal fat layer morphology abnormal panniculus adiposus morphology abnormal subcutaneous fat layer morphology MPheno.ontology MP:0011156 abnormal hypodermis fat layer morphology MP:0011156 any structural anomaly of the superficial portion of the subcutaneous tissue which is specialized for fat storage ISBN:0-683-40008-8 any structural anomaly of the skeletal muscle layer in the superficial fascia csmith 2011-05-23T03:53:01Z abnormal hypodermal muscle layer morphology abnormal panniculus carnosus morphology MPheno.ontology MP:0011157 abnormal hypodermis muscle layer morphology MP:0011157 any structural anomaly of the skeletal muscle layer in the superficial fascia ISBN:0-683-40008-8 absence of the skeletal muscle layer in the superficial fascia csmith 2011-05-23T03:53:40Z absent hypodermal muscle layer MPheno.ontology absent panniculus carnosus MP:0011158 absent hypodermis muscle layer MP:0011158 absence of the skeletal muscle layer in the superficial fascia ISBN:0-683-40008-8 any structural anomaly of the multi-layer basement membrane between the dermis and epidermis that serves to adhere the dermis and epidermis, provide mechanical support for the epidermis, and forms a barrier to cells and large molecules across the junction csmith 2011-05-25T03:52:09Z FMA:70963 abnormal EDJ morphology abnormal dermal-epidermal junction morphology abnormal dermo-epidermal junction morphology MPheno.ontology MP:0011159 abnormal epidermal-dermal junction morphology MP:0011159 any structural anomaly of the multi-layer basement membrane between the dermis and epidermis that serves to adhere the dermis and epidermis, provide mechanical support for the epidermis, and forms a barrier to cells and large molecules across the junction PMID:1097542 the appearance of gaps or clefts in the normally continuous junctional interface between the dermis and epidermis csmith 2011-05-25T04:10:23Z MPheno.ontology MP:0011160 dermal-epidermal separation MP:0011160 the appearance of gaps or clefts in the normally continuous junctional interface between the dermis and epidermis https://orcid.org/0000-0003-3691-0324 new or excessive vessel proliferation in the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia csmith 2011-05-26T12:12:39Z hypodermal neovascularization MPheno.ontology MP:0011161 increased hypodermis neovascularization MP:0011161 new or excessive vessel proliferation in the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any deviation from the standard ratio, calculated by dividing the wet lung weight (measured immediately after lung excision) to the oven-dried lung weight, compared to control samples; may be used as an index of extravascular fluid accumulation (pulmonary edema) and/or tissue damage after lung injury csmith 2011-05-26T12:57:37Z MPheno.ontology MP:0011162 abnormal wet-to-dry lung weight ratio MP:0011162 any deviation from the standard ratio, calculated by dividing the wet lung weight (measured immediately after lung excision) to the oven-dried lung weight, compared to control samples; may be used as an index of extravascular fluid accumulation (pulmonary edema) and/or tissue damage after lung injury https://orcid.org/0000-0002-6490-7723 an increase in the ratio of wet lung weight (measured immediately after lung excision) to oven-dried lung weight relative to control samples; may reflect an inability to expel remaining amniotic fluid out of the lungs during or shortly after birth, or increased fluid accumulation (pulmonary edema) and/or tissue damage after lung injury csmith 2011-05-26T12:58:04Z increased wet lung weight MPheno.ontology MP:0011163 increased wet-to-dry lung weight ratio MP:0011163 an increase in the ratio of wet lung weight (measured immediately after lung excision) to oven-dried lung weight relative to control samples; may reflect an inability to expel remaining amniotic fluid out of the lungs during or shortly after birth, or increased fluid accumulation (pulmonary edema) and/or tissue damage after lung injury https://orcid.org/0000-0002-6490-7723 inflammation of the subcutaneous adipose tissue csmith 2011-05-26T01:25:38Z hypodermal fat layer inflammation panniculus adiposus inflammation subcutaneous adipose tissue inflammation MPheno.ontology MP:0011164 panniculitis MP:0011164 inflammation of the subcutaneous adipose tissue ISBN:0-683-40008-8 aberrant or incomplete formation of the part of a tooth that is implanted in the gum; the root is normally located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone csmith 2011-05-26T03:04:20Z abnormal dental root development MPheno.ontology MP:0011165 abnormal tooth root development MP:0011165 aberrant or incomplete formation of the part of a tooth that is implanted in the gum; the root is normally located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone https://orcid.org/0000-0002-6490-7723 absence of the part of a molar tooth that is implanted in the gum; mandibular and maxillary molars usually have two and three roots, respectively csmith 2011-05-26T03:04:51Z MPheno.ontology MP:0011166 absent molar root MP:0011166 absence of the part of a molar tooth that is implanted in the gum; mandibular and maxillary molars usually have two and three roots, respectively https://orcid.org/0000-0002-6490-7723 anomaly in the process of the formation of the connective tissue composed of fat cells enmeshed in areolar tissue csmith 2011-06-07T03:18:55Z MPheno.ontology abnormal adipogenesis MP:0011167 abnormal adipose tissue development MP:0011167 anomaly in the process of the formation of the connective tissue composed of fat cells enmeshed in areolar tissue MESH:A10.165.114 https://orcid.org/0000-0003-3691-0324 abnormal or arrest of differentiation of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals csmith 2011-06-07T03:18:55Z abnormal adipocyte differentiation abnormal lipocyte differentiation MPheno.ontology abnormal adipogenesis MP:0011168 abnormal fat cell differentiation MP:0011168 abnormal or arrest of differentiation of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals CL:0000449 https://orcid.org/0000-0003-3691-0324 abnormal or arrest of differentiation of fat cells with light coloration and few mitochondria; these contain a scant ring of cytoplasm surrounding a single large lipid droplet or vacuole csmith 2011-06-07T03:18:55Z abnormal white adipocyte differentiation abnormal white lipocyte differentiation MPheno.ontology MP:0011169 abnormal white fat cell differentation MP:0011169 abnormal or arrest of differentiation of fat cells with light coloration and few mitochondria; these contain a scant ring of cytoplasm surrounding a single large lipid droplet or vacuole MESH:A11.329.114.500 https://orcid.org/0000-0003-3691-0324 abnormal or arrest of differentiation of cells from the thermogenic form of adipose tissue found in newborns of many species, including humans, and in hibernating mammals csmith 2011-06-07T03:18:55Z abnormal brown adipocyte differentiation abnormal brown lipocyte differentiation MPheno.ontology MP:0011170 abnormal brown fat cell differentiation MP:0011170 abnormal or arrest of differentiation of cells from the thermogenic form of adipose tissue found in newborns of many species, including humans, and in hibernating mammals CL:0000449 https://orcid.org/0000-0003-3691-0324 presence of intracellular inclusions usually attached to the red blood cell membrane, resulting from oxidative injury to and precipitation of hemoglobin in red blood cells csmith 2011-06-08T01:56:22Z MPheno.ontology MP:0011171 increased number of Heinz bodies MP:0011171 presence of intracellular inclusions usually attached to the red blood cell membrane, resulting from oxidative injury to and precipitation of hemoglobin in red blood cells http://www.dorlands.com/ any structural anomaly of the pair of depressions of thickened otic placode epithelium, that further develops into the otic vesicles csmith 2011-06-13T10:53:23Z abnormal auditory pit morphology MPheno.ontology MP:0011172 abnormal otic pit morphology MP:0011172 any structural anomaly of the pair of depressions of thickened otic placode epithelium, that further develops into the otic vesicles ISBN:0-683-40008-8 any structural anomaly of two paired thickened areas of ectoderm close to the hindbrain from which the vestibular system and the auditory system develops; the otic placode invaginates into the mesenchyme adjacent to the rhombencephalon to form the otic pit csmith 2011-06-13T10:53:50Z abnormal auditory placode morphology MPheno.ontology MP:0011173 abnormal otic placode morphology MP:0011173 any structural anomaly of two paired thickened areas of ectoderm close to the hindbrain from which the vestibular system and the auditory system develops; the otic placode invaginates into the mesenchyme adjacent to the rhombencephalon to form the otic pit PMID:9507049 abnormal or degenerative conditions of the body's adipose tissue resulting in bodily or focal loss and the appearance of redistribution of fat tissue; adipose tissue loss may be total, partial, or localized csmith 2011-06-14T10:40:49Z MPheno.ontology MP:0011174 lipodystrophy MP:0011174 abnormal or degenerative conditions of the body's adipose tissue resulting in bodily or focal loss and the appearance of redistribution of fat tissue; adipose tissue loss may be total, partial, or localized https://orcid.org/0000-0003-3691-0324 flatness of the bodies of the vertebrae; one or many vertebrae may be affected csmith 2011-06-20T11:42:26Z flat vertebral bodies flattened vertebrae flattened vertebral bodies platyspondylisis platyspondyly MPheno.ontology MP:0011175 platyspondylia MP:0011175 flatness of the bodies of the vertebrae; one or many vertebrae may be affected ISBN:0-683-40008-8 any structural anomaly of the nucleated precursor of erythrocytes csmith 2011-06-20T12:36:38Z MPheno.ontology abnormal normoblast morphology MP:0011176 In human, these cells are normally found exclusively in the bone marrow. In other species such as rodents, they may be found in liver and/or spleen. abnormal erythroblast morphology MP:0011176 any structural anomaly of the nucleated precursor of erythrocytes ISBN:0-683-40008-8 altered number of the nucleated precursor of erythrocytes csmith 2011-06-20T12:37:30Z MPheno.ontology abnormal normoblast number MP:0011177 abnormal erythroblast number MP:0011177 altered number of the nucleated precursor of erythrocytes https://orcid.org/0000-0003-3691-0324 greater number of the nucleated precursor of erythrocytes csmith 2011-06-20T12:37:30Z MPheno.ontology increased normoblast number MP:0011178 increased erythroblast number MP:0011178 greater number of the nucleated precursor of erythrocytes https://orcid.org/0000-0003-3691-0324 reduced number of the nucleated precursor of erythrocytes csmith 2011-06-20T12:37:30Z reduced erythroblast number MPheno.ontology decreased normoblast number reduced normoblast number MP:0011179 decreased erythroblast number MP:0011179 reduced number of the nucleated precursor of erythrocytes https://orcid.org/0000-0003-3691-0324 any anomaly in the expected number of cells of the hematopoietic lineage csmith 2011-06-20T01:20:15Z abnormal haematopoietic cell number MPheno.ontology MP:0011180 abnormal hematopoietic cell number MP:0011180 any anomaly in the expected number of cells of the hematopoietic lineage CL:0000988 https://orcid.org/0000-0003-3691-0324 greater than expected number of cells of the hematopoietic lineage csmith 2011-06-20T01:20:15Z increased haematopoietic cell number MPheno.ontology MP:0011181 increased hematopoietic cell number MP:0011181 greater than expected number of cells of the hematopoietic lineage https://orcid.org/0000-0003-3691-0324 fewer than expected number of cells of the hematopoietic lineage csmith 2011-06-20T01:20:15Z decreased haematopoietic cell number MPheno.ontology MP:0011182 decreased hematopoietic cell number MP:0011182 fewer than expected number of cells of the hematopoietic lineage https://orcid.org/0000-0003-3691-0324 any structural anomaly of the transient thin monolayer of cuboidal cells that comprise the lower layer of the bilaminar embryonic disk; the hypoblast cells contribute to several extraembryonic structures, but do not contribute to the embryo csmith 2011-06-20T02:15:10Z abnormal PE morphology abnormal PrE morphology abnormal primary endoderm morphology MPheno.ontology abnormal hypoblast morphology MP:0011183 In rodents, the hypoblast cells form the parietal endoderm, parietal and visceral yolk sac as well as extraembryonic membranes, such as the extraembryonic endoderm, the yolk sac and the stalk that links it to the endodermal digestive tube. In human embryos, hypoblast cells migrate and line the blastocoelic cavity of the blastocyst, forming the primary yolk sac and Heuser's membrane. Although both the murine parietal yolk sac and the human primary yolk sac are transient structures, they are not developmental equivalents. A second wave of hypoblast cells migrates to form the definitive yolk sac which displaces the primary yolk sac and is equivalent to the murine visceral yolk sac. The primary yolk sac breaks up into small vesicles that can persist at the mural (abembryonic) pole. abnormal primitive endoderm morphology MP:0011183 any structural anomaly of the transient thin monolayer of cuboidal cells that comprise the lower layer of the bilaminar embryonic disk; the hypoblast cells contribute to several extraembryonic structures, but do not contribute to the embryo http://discovery.lifemapsc.com/in-vivo-development/hypoblast/hypoblast absence of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion csmith 2011-06-20T02:23:11Z absent EPI absent ectoblast absent embryonic ectoderm absent primary ectoderm absent primitive ectoderm MPheno.ontology MP:0011184 The epiblast cells (appearing on day 8 of human embryonic development) make up a columnar epithelium with dense microvilli on the apical surface. During gastrulation, the epiblast cells undergo epithelial-to-mesenchymal transition and delaminate to become the loose mesenchyme of the primitive streak. The epiblast is present in postimplantation mouse embryos between E5.5-E7.5. absent embryonic epiblast MP:0011184 absence of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion PMID:21123814 http://discovery.lifemapsc.com/in-vivo-development/epiblast/epiblast absence of the transient thin monolayer of cuboidal cells that comprise the lower layer of the bilaminar embryonic disk; the hypoblast cells contribute to several extraembryonic structures, but do not contribute to the embryo csmith 2011-06-20T02:36:57Z absent PE absent PrE absent hypoblast absent primary endoderm MPheno.ontology MP:0011185 absent primitive endoderm MP:0011185 absence of the transient thin monolayer of cuboidal cells that comprise the lower layer of the bilaminar embryonic disk; the hypoblast cells contribute to several extraembryonic structures, but do not contribute to the embryo http://discovery.lifemapsc.com/in-vivo-development/hypoblast/hypoblast any structural anomaly of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut csmith 2011-06-20T02:39:29Z abnormal VE morphology MPheno.ontology MP:0011186 abnormal visceral endoderm morphology MP:0011186 any structural anomaly of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut PMID:21123814 any structural anomaly of the primitive endoderm-derived tissue that lines the luminal surface of the mural trophectoderm csmith 2011-06-20T02:39:48Z abnormal PaE morphology abnormal ParE morphology abnormal distal endoderm morphology MPheno.ontology MP:0011187 abnormal parietal endoderm morphology MP:0011187 any structural anomaly of the primitive endoderm-derived tissue that lines the luminal surface of the mural trophectoderm PMID:19201946 an accumulation of the intermediates of heme biosynthesis in red blood cells csmith 2011-06-21T03:15:34Z MPheno.ontology MP:0011188 increased erythrocyte protoporphyrin level MP:0011188 an accumulation of the intermediates of heme biosynthesis in red blood cells https://orcid.org/0000-0003-3691-0324 reduced size of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion csmith 2011-06-22T01:26:36Z reduced epiblast size small EPI small ectoblast small embryonic ectoderm small primary ectoderm small primitive ectoderm MPheno.ontology MP:0011189 The epiblast cells (appearing on day 8 of human embryonic development) make up a columnar epithelium with dense microvilli on the apical surface. During gastrulation, the epiblast cells undergo epithelial-to-mesenchymal transition and delaminate to become the loose mesenchyme of the primitive streak. The epiblast is present in postimplantation mouse embryos between E5.5-E7.5. small embryonic epiblast MP:0011189 reduced size of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion PMID:21123814 http://discovery.lifemapsc.com/in-vivo-development/epiblast/epiblast increased thickness of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion csmith 2011-06-22T01:26:36Z thick EPI thick ectoblast thick embryonic ectoderm thick primary ectoderm thick primitive ectoderm MPheno.ontology MP:0011190 The epiblast cells (appearing on day 8 of human embryonic development) make up a columnar epithelium with dense microvilli on the apical surface. During gastrulation, the epiblast cells undergo epithelial-to-mesenchymal transition and delaminate to become the loose mesenchyme of the primitive streak. The epiblast is present in postimplantation mouse embryos between E5.5-E7.5. thick embryonic epiblast MP:0011190 increased thickness of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion PMID:21123814 http://discovery.lifemapsc.com/in-vivo-development/epiblast/epiblast increase in the number of embryonic epiblast cells undergoing programmed cell death csmith 2011-06-22T01:26:36Z MPheno.ontology MP:0011191 increased embryonic epiblast cell apoptosis MP:0011191 increase in the number of embryonic epiblast cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 reduction in the expansion rate of the embryonic epiblast cells by cell division csmith 2011-06-22T01:26:36Z reduced epiblast cell proliferation MPheno.ontology MP:0011192 decreased embryonic epiblast cell proliferation MP:0011192 reduction in the expansion rate of the embryonic epiblast cells by cell division https://orcid.org/0000-0002-6490-7723 a retrogressive impairment of function or destruction of the cells comprising the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion csmith 2011-06-22T01:26:36Z MPheno.ontology MP:0011193 The epiblast cells (appearing on day 8 of human embryonic development) make up a columnar epithelium with dense microvilli on the apical surface. During gastrulation, the epiblast cells undergo epithelial-to-mesenchymal transition and delaminate to become the loose mesenchyme of the primitive streak. The epiblast is present in postimplantation mouse embryos between E5.5-E7.5. embryonic epiblast cell degeneration MP:0011193 a retrogressive impairment of function or destruction of the cells comprising the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion PMID:21123814 http://discovery.lifemapsc.com/in-vivo-development/epiblast/epiblast any functional anomaly of the invagination of the epidermis from which the hair shaft develops csmith 2011-06-22T03:41:46Z MPheno.ontology MP:0011194 abnormal hair follicle physiology MP:0011194 any functional anomaly of the invagination of the epidermis from which the hair shaft develops MESH:A10.272.497.500 https://orcid.org/0000-0003-0431-8641 greater than expected levels of programmed cell death of cells in the epidermis from which the hair shaft develops csmith 2011-06-22T03:43:17Z MPheno.ontology MP:0011195 increased hair follicle apoptosis MP:0011195 greater than expected levels of programmed cell death of cells in the epidermis from which the hair shaft develops https://orcid.org/0000-0003-0431-8641 reduced from expected levels of programmed cell death of cells in the epidermis from which the hair shaft develops csmith 2011-06-22T03:43:34Z reduced hair follicle apoptosis MPheno.ontology MP:0011196 decreased hair follicle apoptosis MP:0011196 reduced from expected levels of programmed cell death of cells in the epidermis from which the hair shaft develops https://orcid.org/0000-0003-0431-8641 any structural anomaly of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds csmith 2011-06-23T01:54:24Z abnormal epiblast cavity morphology abnormal preamniotic cavity morphology abnormal pro-amniotic cavity morphology MPheno.ontology MP:0011197 abnormal proamniotic cavity morphology MP:0011197 any structural anomaly of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds ISBN:0-12-402035-6 absence of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds csmith 2011-06-23T01:56:00Z absent epiblast cavity absent preamniotic cavity MPheno.ontology MP:0011198 absent proamniotic cavity MP:0011198 absence of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds ISBN:0-12-402035-6 any structural anomaly of the closed space between the embryo and the amnion, containing the amniotic fluid; it is formed by the fusion of the parts of the anterior and posterior amniotic folds csmith 2011-06-23T01:57:08Z MPheno.ontology MP:0011199 abnormal amniotic cavity morphology MP:0011199 any structural anomaly of the closed space between the embryo and the amnion, containing the amniotic fluid; it is formed by the fusion of the parts of the anterior and posterior amniotic folds ISBN:0-12-402035-6 any structural anomaly of the fluid-filled spaces formed within the mass of extraembryonic mesoderm that later fuse to become a large extraembryonic cavity csmith 2011-06-23T01:59:48Z abnormal chorion cavity morphology abnormal chorionic cavity morphology abnormal exocoelom morphology abnormal exocoelomic cavity morphology abnormal extraembryonic celom morphology MPheno.ontology MP:0011200 Note that there is a great deal of confusion in the literature regarding the term exocoelomic cavity. It is frequently and erroneously used as a synonym for primary yolk sac cavity. abnormal extraembryonic coelom morphology MP:0011200 any structural anomaly of the fluid-filled spaces formed within the mass of extraembryonic mesoderm that later fuse to become a large extraembryonic cavity ISBN-10:1405118660 ISBN:0-12-402035-6 any structural anomaly of the closed space containing the yolk, formed by the fusion of the edges of the embryonic epiblast (hypoblast) and later surrounded by the visceral yolk sac (hypoblast and visceral yolk sac mesoderm) csmith 2011-06-23T01:59:48Z abnormal yolk sac cavity MPheno.ontology MP:0011201 abnormal visceral yolk sac cavity morphology MP:0011201 any structural anomaly of the closed space containing the yolk, formed by the fusion of the edges of the embryonic epiblast (hypoblast) and later surrounded by the visceral yolk sac (hypoblast and visceral yolk sac mesoderm) ISBN:0-12-402035-6 PMID:21123814 any structural anomaly of the closed space within the ectoplacental cone, formed by the fusion of the parts of the amniotic fold that separate it from the amniotic cavity csmith 2011-06-23T01:59:48Z abnormal epamniotic cavity MPheno.ontology MP:0011202 abnormal ectoplacental cavity morphology MP:0011202 any structural anomaly of the closed space within the ectoplacental cone, formed by the fusion of the parts of the amniotic fold that separate it from the amniotic cavity ISBN:0-12-402035-6 any structural anomaly of the tissue that consists of two cellular layers (parietal endoderm and trophoblast) separated by a relatively thick nonvascular basement membrane (Reichert's membrane), and acts as a protective layer to supports and facilitates transport of nutrients between the uterine tissue and the yolk sac cavity csmith 2011-06-24T03:01:00Z abnormal primary yolk sac morphology MPheno.ontology MP:0011203 abnormal parietal yolk sac morphology MP:0011203 any structural anomaly of the tissue that consists of two cellular layers (parietal endoderm and trophoblast) separated by a relatively thick nonvascular basement membrane (Reichert's membrane), and acts as a protective layer to supports and facilitates transport of nutrients between the uterine tissue and the yolk sac cavity PMID:1150659 PMID:21123814 any structural anomaly of the masses of developing blood cells attached to endothelium in the yolk sac csmith 2011-06-24T03:11:04Z MPheno.ontology MP:0011204 abnormal visceral yolk sac blood island morphology MP:0011204 any structural anomaly of the masses of developing blood cells attached to endothelium in the yolk sac PMID:16140152 the appearance of wrinkles or folds on the surface of the visceral yolk sac csmith 2011-06-24T03:39:13Z folded visceral yolk sac ruffled visceral yolk sac visceral yolk sac ruffling wrinkled visceral yolk sac MPheno.ontology MP:0011205 excessive folding of visceral yolk sac MP:0011205 the appearance of wrinkles or folds on the surface of the visceral yolk sac PMID:17881493 https://orcid.org/0000-0003-3691-0324 absence of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo csmith 2011-06-24T03:40:33Z MPheno.ontology MP:0011206 absent visceral yolk sac MP:0011206 absence of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo ISBN10:9780123364258 PMID:21123814 absence of the closed space within the ectoplacental cone, formed by the fusion of the parts of the amniotic fold that separate it from the amniotic cavity csmith 2011-06-24T04:02:46Z absent epamniotic cavity MPheno.ontology MP:0011207 absent ectoplacental cavity MP:0011207 absence of the closed space within the ectoplacental cone, formed by the fusion of the parts of the amniotic fold that separate it from the amniotic cavity ISBN:0-12-402035-6 reduced size of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds csmith 2011-06-24T04:03:35Z small epiblast cavity small preamniotic cavity small pro-amniotic cavity MPheno.ontology MP:0011208 small proamniotic cavity MP:0011208 reduced size of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds ISBN:0-12-402035-6 absence of the fluid-filled spaces formed within the mass of extraembryonic mesoderm that later fuse to become a large extraembryonic cavity csmith 2011-06-24T04:06:28Z absent chorion cavity absent chorionic cavity absent exocoelom absent exocoelomic cavity absent extraembryonic celom MPheno.ontology MP:0011209 absent extraembryonic coelom MP:0011209 absence of the fluid-filled spaces formed within the mass of extraembryonic mesoderm that later fuse to become a large extraembryonic cavity ISBN10:1405118660 ISBN:0-12-402035-6 any structural anomaly of the synovial articulation between the head of the mandibular condoyloid process and the mandibular fossa and articular tubercle of the temporal bones csmith 2011-06-30T02:50:39Z FMA:54832 MA:0002899 abnormal TMJ morphology abnormal mandibular joint morphology abnormal temporo-mandibular joint morphology abnormal temporomandibular articulation morphology MPheno.ontology MP:0011210 abnormal temporomandibular joint morphology MP:0011210 any structural anomaly of the synovial articulation between the head of the mandibular condoyloid process and the mandibular fossa and articular tubercle of the temporal bones ISBN:0-683-40008-8 any structural anomaly of a nerve arising at the terminal division of the sciatic nerve at the popliteal fossa and extending to the neck of the fibula, ultimately innervating the Peroneus muscles csmith 2011-06-30T03:09:04Z FMA:19039 MA:0001169 abnormal common fibular nerve morphology abnormal external popliteal nerve morphology abnormal lateral popliteal nerve morphology MPheno.ontology MP:0011211 abnormal common peroneal nerve morphology MP:0011211 any structural anomaly of a nerve arising at the terminal division of the sciatic nerve at the popliteal fossa and extending to the neck of the fibula, ultimately innervating the Peroneus muscles ISBN:0-683-40008-8 absence of the nerve arising at the terminal division of the sciatic nerve at the popliteal fossa and extending to the neck of the fibula, ultimately innervating the Peroneus muscles csmith 2011-06-30T03:25:50Z absent common fibular nerve absent external popliteal nerve absent lateral popliteal nerve MPheno.ontology MP:0011212 absent common peroneal nerve MP:0011212 absence of the nerve arising at the terminal division of the sciatic nerve at the popliteal fossa and extending to the neck of the fibula, ultimately innervating the Peroneus muscles ISBN:0-683-40008-8 an anomaly in the amount of copper present in brain tissue csmith 2011-07-12T02:49:21Z MPheno.ontology MP:0011213 abnormal brain copper level MP:0011213 an anomaly in the amount of copper present in brain tissue MGI:llw2 a greater accumulation of copper in the brain tissue compared to controls csmith 2011-07-12T02:49:21Z MPheno.ontology MP:0011214 increased brain copper level MP:0011214 a greater accumulation of copper in the brain tissue compared to controls MGI:llw2 a reduced amount of copper in the brain tissue compared to controls csmith 2011-07-12T02:49:21Z reduced brain copper level MPheno.ontology MP:0011215 decreased brain copper level MP:0011215 a reduced amount of copper in the brain tissue compared to controls MGI:llw2 an anomaly in the amount of copper present in brainstem tissue csmith 2011-07-12T02:49:21Z MPheno.ontology MP:0011216 abnormal brainstem copper level MP:0011216 an anomaly in the amount of copper present in brainstem tissue MGI:llw2 a greater accumulation of copper in the brainstem tissue compared to controls csmith 2011-07-12T02:49:21Z MPheno.ontology MP:0011217 increased brainstem copper level MP:0011217 a greater accumulation of copper in the brainstem tissue compared to controls MGI:llw2 a reduced amount of copper in the brainstem tissue compared to controls csmith 2011-07-12T02:49:21Z reduced brainstem copper level MPheno.ontology MP:0011218 decreased brainstem copper level MP:0011218 a reduced amount of copper in the brainstem tissue compared to controls MGI:llw2 any anomaly in the ability of the body to take up calcium into the blood by absorption from the small intestine csmith 2011-07-14T03:30:43Z MPheno.ontology MP:0011219 abnormal intestinal calcium absorption MP:0011219 any anomaly in the ability of the body to take up calcium into the blood by absorption from the small intestine https://orcid.org/0000-0003-3691-0324 augmented ability of the body to take up calcium into the blood by absorption from the small intestine csmith 2011-07-14T03:31:33Z MPheno.ontology MP:0011220 increased intestinal calcium absorption MP:0011220 augmented ability of the body to take up calcium into the blood by absorption from the small intestine https://orcid.org/0000-0003-3691-0324 reduced ability of the body to take up calcium into the blood by absorption from the small intestine csmith 2011-07-14T03:31:33Z reduced intestinal calcium absorption MPheno.ontology MP:0011221 decreased intestinal calcium absorption MP:0011221 reduced ability of the body to take up calcium into the blood by absorption from the small intestine https://orcid.org/0000-0003-3691-0324 any structural anomaly of the channels in the lymph node medulla that separate the medullary cords and are crossed by a reticulum of cells and fibers and bounded by littoral cells; lymph flows through the medullary sinus from the cortical sinuses and into the efferent lymphatic vessels csmith 2011-07-21T09:52:45Z abnormal lymph node medullary sinusoids morphology MPheno.ontology MP:0011222 abnormal lymph node medullary sinus morphology MP:0011222 any structural anomaly of the channels in the lymph node medulla that separate the medullary cords and are crossed by a reticulum of cells and fibers and bounded by littoral cells; lymph flows through the medullary sinus from the cortical sinuses and into the efferent lymphatic vessels ISBN:0-683-40008-8 the luminal space of one or more lymph node medullary sinuses is increased in volume or area, usually with an increase in contained fluid csmith 2011-07-21T09:54:12Z dilated lymph node medullary sinuses dilated lymph node medullary sinusoids lymph node medullary sinus dilation MPheno.ontology MP:0011223 dilated lymph node medullary sinus MP:0011223 the luminal space of one or more lymph node medullary sinuses is increased in volume or area, usually with an increase in contained fluid https://orcid.org/0000-0003-3691-0324 any structural anomaly of the dense rope-like structures of lymphatic tissue located between the medullary sinuses in the medulla of a lymph node csmith 2011-07-21T09:54:32Z abnormal lymph cords morphology MPheno.ontology MP:0011224 abnormal lymph node medullary cord morphology MP:0011224 any structural anomaly of the dense rope-like structures of lymphatic tissue located between the medullary sinuses in the medulla of a lymph node ISBN:0-683-40008-8 increase in the number of normal cells in normal arrangement in the lymph node medullary cord, typically resulting in increased size csmith 2011-07-21T09:54:39Z hyperplastic lymph node medullary cords MPheno.ontology MP:0011225 lymph node medullary cord hyperplasia MP:0011225 increase in the number of normal cells in normal arrangement in the lymph node medullary cord, typically resulting in increased size ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any anomaly in the concentration of thiamine (vitamin B1), a water soluble vitamin present in fresh vegetables and meats, especially liver csmith 2011-07-21T01:53:25Z abnormal thiamine level abnormal vitamin B1 level MPheno.ontology MP:0011226 abnormal thiamin level MP:0011226 any anomaly in the concentration of thiamine (vitamin B1), a water soluble vitamin present in fresh vegetables and meats, especially liver GO:0006772 any anomaly in the concentration of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom csmith 2011-07-21T02:02:26Z abnormal cobalamin level MPheno.ontology MP:0011227 abnormal vitamin B12 level MP:0011227 any anomaly in the concentration of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom GO:0009236 any anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3) csmith 2011-07-21T02:02:26Z abnormal calciferol level abnormal calciol level abnormal cholecalciferol level abnormal ergocalciferol level abnormal vitamin D2 level abnormal vitamin D3 level MPheno.ontology MP:0011228 abnormal vitamin D level MP:0011228 any anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3) GO:0042368 any anomaly in the concentration of L-ascorbic acid (vitamin C), which is a common co-factor and has anti-oxidant activities in many species csmith 2011-07-21T02:02:26Z abnormal L-ascorbic acid level abnormal ascorbate level abnormal ascorbic acid level MPheno.ontology MP:0011229 abnormal vitamin C level MP:0011229 any anomaly in the concentration of L-ascorbic acid (vitamin C), which is a common co-factor and has anti-oxidant activities in many species GO:0019852 any anomaly in the concentration of the vitamin B family member that stimulates the hematopoietic system, is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses, and is used in the treatment and prevention of folate deficiencies and megaloblastic anemia csmith 2011-07-21T02:02:26Z abnormal vitamin B9 level abnormal vitamin M level abnormal folate level abnormal folvite level abnormal pteroylglutamic acid level MPheno.ontology MP:0011230 abnormal folic acid level MP:0011230 any anomaly in the concentration of the vitamin B family member that stimulates the hematopoietic system, is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses, and is used in the treatment and prevention of folate deficiencies and megaloblastic anemia MESH:D03.438.733.631.400 any anomaly in the concentration of vitamin E, tocopherol, including a series of eight structurally similar compounds; alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant csmith 2011-07-21T02:02:26Z abnormal alpha-tocopherol level abnormal tocopherol level MPheno.ontology MP:0011231 abnormal vitamin E level MP:0011231 any anomaly in the concentration of vitamin E, tocopherol, including a series of eight structurally similar compounds; alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant GO:0010189 any anomaly in the concentration of any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid; animals can not synthesize vitamin A de novo, but form it through oxidative cleavage of carotenoids supplied in the diet csmith 2011-07-21T02:02:26Z abnormal retinal level abnormal retinaldehyde level abnormal retinoic acid level abnormal retinol level MPheno.ontology MP:0011232 abnormal vitamin A level MP:0011232 any anomaly in the concentration of any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid; animals can not synthesize vitamin A de novo, but form it through oxidative cleavage of carotenoids supplied in the diet GO:0035238 altered ability to metabolize any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid; animals can not synthesize vitamin A de novo, but form it through oxidative cleavage of carotenoids supplied in the diet csmith 2011-07-21T03:06:19Z abnormal retinal metabolism abnormal retinaldehyde metabolism abnormal retinoic acid metabolism abnormal retinol metabolism MPheno.ontology MP:0011233 abnormal vitamin A metabolism MP:0011233 altered ability to metabolize any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid; animals can not synthesize vitamin A de novo, but form it through oxidative cleavage of carotenoids supplied in the diet GO:0035238 any anomaly in the concentration of retinol, which plays an essential role in metabolic functioning of the retina, and growth and differentiation csmith 2011-07-21T03:12:45Z abnormal vitamin A1 level MPheno.ontology MP:0011234 abnormal retinol level MP:0011234 any anomaly in the concentration of retinol, which plays an essential role in metabolic functioning of the retina, and growth and differentiation ISBN:0-683-40008-8 the maximum amount of oxygen that will combine chemically with a given amount of hemoglobin in a unit volume of blood is not as expected csmith 2011-07-27T11:36:45Z abnormal blood oxygen affinity abnormal haemoglobin affinity for oxygen abnormal hemoglobin affinity for oxygen MPheno.ontology abnormal haemoglobin dissociation curve abnormal hemoglobin dissociation curve abnormal oxygen dissociation curve MP:0011235 abnormal blood oxygen capacity MP:0011235 the maximum amount of oxygen that will combine chemically with a given amount of hemoglobin in a unit volume of blood is not as expected ISBN:0-683-40008-8 an increase in the maximum amount of oxygen that will combine chemically with a given amount of hemoglobin in a unit volume of blood csmith 2011-07-27T11:47:30Z increased blood oxygen affinity MPheno.ontology MP:0011236 increased blood oxygen capacity MP:0011236 an increase in the maximum amount of oxygen that will combine chemically with a given amount of hemoglobin in a unit volume of blood ISBN:0-683-40008-8 a decrease in the maximum amount of oxygen that will combine chemically with a given amount of hemoglobin in a unit volume of blood csmith 2011-07-27T11:47:30Z decreased blood oxygen affinity MPheno.ontology MP:0011237 decreased blood oxygen capacity MP:0011237 a decrease in the maximum amount of oxygen that will combine chemically with a given amount of hemoglobin in a unit volume of blood ISBN:0-683-40008-8 atypical initial production, differentiation, migration or maturation of the labyrinth, including the semicircular canals, vestibule and cochlea csmith 2011-07-27T12:39:11Z MPheno.ontology MP:0011238 abnormal inner ear development MP:0011238 atypical initial production, differentiation, migration or maturation of the labyrinth, including the semicircular canals, vestibule and cochlea MGI:llw2 a variation in an expected skin color or complexion that may be due to inflammation, pigment defects or other causes csmith 2011-07-27T01:21:38Z abnormal skin colouration MPheno.ontology MP:0011239 abnormal skin coloration MP:0011239 a variation in an expected skin color or complexion that may be due to inflammation, pigment defects or other causes MGI:llw2 any structural anomaly of a fetal liver derived enucleated erythrocyte, which matures in macrophage islands within the liver, enucleates, and then enters the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins csmith 2011-07-27T02:46:43Z CL:0002357 abnormal foetal derived definitive erythrocyte morphology MPheno.ontology abnormal liver derived definitive erythrocyte morphology MP:0011240 abnormal fetal derived definitive erythrocyte morphology MP:0011240 any structural anomaly of a fetal liver derived enucleated erythrocyte, which matures in macrophage islands within the liver, enucleates, and then enters the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins CL:0002357 PMID:18282515 anomaly in the number of a fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins csmith 2011-07-27T02:59:33Z CL:0002357 abnormal foetal derived definitive erythrocyte cell number MPheno.ontology abnormal liver derived definitive erythrocyte cell number MP:0011241 abnormal fetal derived definitive erythrocyte cell number MP:0011241 anomaly in the number of a fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins CL:0002357 PMID:18282515 increased number of fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins csmith 2011-07-27T03:02:09Z CL:0002357 increased foetal derived definitive erythrocyte cell number MPheno.ontology increased liver derived definitive erythrocyte cell number MP:0011242 increased fetal derived definitive erythrocyte cell number MP:0011242 increased number of fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins CL:0002357 PMID:18282515 reduced number of fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins csmith 2011-07-27T03:02:09Z CL:0002357 decreased foetal derived definitive erythrocyte cell number reduced fetal derived definitive erythrocyte cell number reduced foetal derived definitive erythrocyte cell number MPheno.ontology decreased liver derived definitive erythrocyte cell number reduced liver derived definitive erythrocyte cell number MP:0011243 decreased fetal derived definitive erythrocyte cell number MP:0011243 reduced number of fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins CL:0002357 PMID:18282515 absence of fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins csmith 2011-07-27T03:02:09Z CL:0002357 absent foetal derived definitive erythrocytes MPheno.ontology MP:0011244 absent fetal derived definitive erythrocytes MP:0011244 absence of fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins CL:0002357 PMID:18282515 any functional anomaly of a fetal liver derived enucleated erythrocyte, which matures in macrophage islands within the liver, enucleates, and then enters the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins csmith 2011-07-27T03:21:28Z CL:0002357 abnormal foetal derived definitive erythrocyte physiology MPheno.ontology abnormal liver derived definitive erythrocyte physiology MP:0011245 abnormal fetal derived definitive erythrocyte physiology MP:0011245 any functional anomaly of a fetal liver derived enucleated erythrocyte, which matures in macrophage islands within the liver, enucleates, and then enters the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins CL:0002357 PMID:18282515 any structural anomaly of a hematopoietic stem cell that resides in the fetal liver csmith 2011-07-27T03:23:26Z CL:0002353 abnormal fetal liver haematopoietic progenitor cell morphology abnormal fetal liver hematopoietic stem cell morphology abnormal foetal liver haematopoietic progenitor cell morphology abnormal foetal liver haematopoietic stem cell morphology MPheno.ontology MP:0011246 In mice, this cell type is first observed at E10.5. abnormal fetal liver hematopoietic progenitor cell morphology MP:0011246 any structural anomaly of a hematopoietic stem cell that resides in the fetal liver CL:0002353 any structural anomaly of a hematopoietic stem found in the yolk sac csmith 2011-07-27T03:25:55Z abnormal yolk sac haematopoietic stem cell morphology MPheno.ontology MP:0011247 abnormal yolk sac hematopoietic stem cell morphology MP:0011247 any structural anomaly of a hematopoietic stem found in the yolk sac CL:0002354 lateral duplication of some or all internal organs csmith 2011-07-27T03:43:10Z MPheno.ontology MP:0011248 visceral organ asymmetry MP:0011248 lateral duplication of some or all internal organs PMID:10646794 lateral transposition or mirroring of the viscera of the abdomen, sometimes incomplete, with all organs maintaining the normal relative position with respect to each other csmith 2011-09-09T10:53:02Z Fyler:3816 MPheno.ontology MP:0011249 abdominal situs inversus MP:0011249 lateral transposition or mirroring of the viscera of the abdomen, sometimes incomplete, with all organs maintaining the normal relative position with respect to each other https://orcid.org/0000-0003-3691-0324 an abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements csmith 2011-09-09T11:26:30Z Fyler:3817 abdominal heterotaxy abdominal situs ambiguous MPheno.ontology MP:0011250 abdominal situs ambiguus MP:0011250 an abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements PMID:18039396 https://orcid.org/0000-0003-3691-0324 anomaly in the asymmetry of the bronchi of the lung such that these structures on both the left and right side have the morphology normally seen on the opposite side of the body csmith 2011-09-09T11:29:01Z Fyler:4237 MPheno.ontology MP:0011251 bronchial situs inversus MP:0011251 anomaly in the asymmetry of the bronchi of the lung such that these structures on both the left and right side have the morphology normally seen on the opposite side of the body https://orcid.org/0000-0003-3691-0324 the complete right to left reversal (transposition) of the thoracic and abdominal organs, including the heart (dextrocardia) csmith 2011-09-09T11:31:07Z Fyler:0100 Fyler:100 situs inversus with dextrocardia MPheno.ontology MP:0011252 situs inversus totalis MP:0011252 the complete right to left reversal (transposition) of the thoracic and abdominal organs, including the heart (dextrocardia) https://orcid.org/0000-0003-3691-0324 situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia csmith 2011-09-09T11:36:01Z levocardia Fyler:0102 Fyler:102 MPATH:714 MPheno.ontology MP:0011253 The term "levocardia" can also be used to indicate the absence of dextrocardia, and thus normal positioning of the heart, part of situs solitus, normal positioning of the organs. However, this usage is less frequent. situs inversus with levocardia MP:0011253 situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 an abnormality in which the heart ventricles are in a superior-inferior relationship due to abnormal displacement of the ventricular mass along the horizontal plane of its long axis; this frequently occurs together with criss-cross atrio-ventricular relationships csmith 2011-09-09T12:00:47Z Fyler:0184 Fyler:184 over-and-under ventricles supero-inferior heart upstairs-downstairs heart MPheno.ontology MP:0011254 superior-inferior ventricles MP:0011254 an abnormality in which the heart ventricles are in a superior-inferior relationship due to abnormal displacement of the ventricular mass along the horizontal plane of its long axis; this frequently occurs together with criss-cross atrio-ventricular relationships ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any anomaly in the movement of the cells of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue csmith 2011-09-12T02:42:33Z abnormal AVE cell migration MPheno.ontology MP:0011255 abnormal anterior visceral endoderm cell migration MP:0011255 any anomaly in the movement of the cells of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue PMID:17078044 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the elevated margins of the neural groove csmith 2011-09-12T03:41:17Z abnormal medullary fold morphology MPheno.ontology MP:0011256 abnormal neural fold morphology MP:0011256 any structural anomaly of the elevated margins of the neural groove ISBN:0-683-40008-8 any structural anomaly of the crescent-shaped, ventrally located fold of the embryonic disc at the future cephalic end of the developing embryo; it constitutes the first body fold, and initiates brain, foregut and heart development csmith 2011-09-12T03:49:42Z abnormal headfold morphology MPheno.ontology MP:0011257 Head fold is properly used to describe the rostrally located, crescent shaped fold of the embryonic disc around the future foregut. However, it is often (and incorrectly) used as a synonym for the ventrally located cephalic neural folds. Take care to select the correct term. abnormal head fold morphology MP:0011257 any structural anomaly of the crescent-shaped, ventrally located fold of the embryonic disc at the future cephalic end of the developing embryo; it constitutes the first body fold, and initiates brain, foregut and heart development ISBN:0-683-40008-8 PMID:10791309 any structural anomaly of the crescent-shaped, ventrally located fold of the embryonic disc at the future caudal end of the developing embryo csmith 2011-09-12T03:49:57Z abnormal caudal fold morphology MPheno.ontology MP:0011258 abnormal tail fold morphology MP:0011258 any structural anomaly of the crescent-shaped, ventrally located fold of the embryonic disc at the future caudal end of the developing embryo ISBN:0-683-40008-8 any structural anomaly of the elevated margins of the neural groove that are located in the future cephalic region of the embryo csmith 2011-09-12T04:05:08Z abnormal head fold morphology abnormal headfold morphology abnormal anterior neural fold morphology abnormal cranial neural fold morphology MPheno.ontology MP:0011259 Head fold is properly used to describe the rostrally located, crescent shaped fold of the embryonic disc around the future foregut. However, it is often (and incorrectly) used as a synonym for the ventrally located cephalic neural folds. Take care to select the correct term. abnormal cephalic neural fold morphology MP:0011259 any structural anomaly of the elevated margins of the neural groove that are located in the future cephalic region of the embryo ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells csmith 2011-09-13T11:23:04Z abnormal cephalic mesenchyme morphology abnormal cranial mesenchyme morphology MPheno.ontology MP:0011260 abnormal head mesenchyme morphology MP:0011260 any structural anomaly of the primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells ISBN:0-683-40008-8 any structural anomaly in the primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells csmith 2011-09-13T11:41:26Z abnormal limb bud mesenchyme MPheno.ontology MP:0011261 abnormal limb mesenchyme morphology MP:0011261 any structural anomaly in the primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly in the primordial embryonic connective tissue associated with the branchial arches, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to facial and cranial nerve-associated structures csmith 2011-09-13T11:46:26Z abnormal branchial arch mesenchyme morphology MPheno.ontology MP:0011262 abnormal pharyngeal arch mesenchyme morphology MP:0011262 any structural anomaly in the primordial embryonic connective tissue associated with the branchial arches, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to facial and cranial nerve-associated structures ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing spleen csmith 2011-09-13T12:15:12Z MPheno.ontology MP:0011263 abnormal spleen mesenchyme morphology MP:0011263 any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing spleen ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures csmith 2011-09-13T12:38:32Z MPheno.ontology MP:0011264 abnormal cardiac mesenchyme morphology MP:0011264 any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing pancreas csmith 2011-09-13T12:41:20Z MPheno.ontology MP:0011265 abnormal pancreas mesenchyme morphology MP:0011265 any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing pancreas ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the frontonasal region of the head csmith 2011-09-13T12:45:23Z abnormal fronto-nasal mesenchyme morphology abnormal naso-frontal mesenchyme morphology MPheno.ontology MP:0011266 abnormal frontonasal mesenchyme morphology MP:0011266 any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the frontonasal region of the head ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 anomaly in the size (height or maximum displacement) or shape of the evoked excitatory postsynaptic current wave csmith 2011-09-13T01:39:03Z abnormal excitatory post-synaptic current amplitude MPheno.ontology MP:0011267 abnormal excitatory postsynaptic current amplitude MP:0011267 anomaly in the size (height or maximum displacement) or shape of the evoked excitatory postsynaptic current wave https://orcid.org/0000-0003-3691-0324 the appearance of two peaks instead of one peak in the evoked excitatory postsynaptic current wave csmith 2011-09-13T01:39:03Z biphasic excitatory post-synaptic current amplitude MPheno.ontology MP:0011268 biphasic excitatory postsynaptic current amplitude MP:0011268 the appearance of two peaks instead of one peak in the evoked excitatory postsynaptic current wave https://orcid.org/0000-0003-3691-0324 increase in the size (height or maximum displacement) of the evoked excitatory postsynaptic current wave csmith 2011-09-13T01:39:03Z increased excitatory post-synaptic current amplitude MPheno.ontology MP:0011269 increased excitatory postsynaptic current amplitude MP:0011269 increase in the size (height or maximum displacement) of the evoked excitatory postsynaptic current wave https://orcid.org/0000-0003-3691-0324 reduction in the size (height or maximum displacement) of the evoked excitatory postsynaptic current wave csmith 2011-09-13T01:39:03Z decreased excitatory post-synaptic current amplitude reduced excitatory post-synaptic current amplitude reduced excitatory postsynaptic current amplitude MPheno.ontology MP:0011270 decreased excitatory postsynaptic current amplitude MP:0011270 reduction in the size (height or maximum displacement) of the evoked excitatory postsynaptic current wave https://orcid.org/0000-0003-3691-0324 an increase in the time required for a signal to change from resting to the peak amplitude value in the evoked excitatory postsynaptic current wave csmith 2011-09-13T01:39:03Z prolonged excitatory post-synaptic current rise time MPheno.ontology MP:0011271 prolonged excitatory postsynaptic current rise time MP:0011271 an increase in the time required for a signal to change from resting to the peak amplitude value in the evoked excitatory postsynaptic current wave https://orcid.org/0000-0003-3691-0324 a decrease in the time required for a signal to change from resting to the peak amplitude value in the evoked excitatory postsynaptic current wave csmith 2011-09-13T01:39:03Z short excitatory post-synaptic current rise time MPheno.ontology MP:0011272 short excitatory postsynaptic current rise time MP:0011272 a decrease in the time required for a signal to change from resting to the peak amplitude value in the evoked excitatory postsynaptic current wave https://orcid.org/0000-0003-3691-0324 increase in the retention time of extracellular glutamate following stimulation csmith 2011-09-13T01:39:03Z prolonged excitatory post-synaptic current decay time MPheno.ontology MP:0011273 prolonged excitatory postsynaptic current decay time MP:0011273 increase in the retention time of extracellular glutamate following stimulation PMID:26657011 decrease in the retention time of extracellular glutamate following stimulation csmith 2011-09-13T01:39:03Z short excitatory post-synaptic current decay time MPheno.ontology MP:0011274 short excitatory postsynaptic current decay time MP:0011274 decrease in the retention time of extracellular glutamate following stimulation PMID:26657011 unexpected change in the activity of an organism (in terms of movement, outward responses) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light csmith 2011-09-13T02:14:19Z abnormal behavioural response to light MPheno.ontology MP:0011275 abnormal behavioral response to light MP:0011275 unexpected change in the activity of an organism (in terms of movement, outward responses) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light GO:0009416 MGI:llw2 visually detectable excess of pigment present on the tail surface csmith 2011-10-11T11:11:58Z tail hyperpigmentation MPheno.ontology MP:0011276 increased tail pigmentation MP:0011276 visually detectable excess of pigment present on the tail surface https://orcid.org/0000-0003-3691-0324 visually detectable dilution of pigment present on the tail surface csmith 2011-10-11T11:12:40Z reduced tail pigmentation tail hypopigmentation MPheno.ontology MP:0011277 decreased tail pigmentation MP:0011277 visually detectable dilution of pigment present on the tail surface https://orcid.org/0000-0003-3691-0324 visually detectable excess of pigment present in the outer ear csmith 2011-10-11T11:14:48Z ear hyperpigmentation MPheno.ontology MP:0011278 increased ear pigmentation MP:0011278 visually detectable excess of pigment present in the outer ear https://orcid.org/0000-0003-3691-0324 visually detectable dilution of pigment present in the outer ear csmith 2011-10-11T11:14:48Z ear hypopigmentation reduced ear pigmentation MPheno.ontology pale ear MP:0011279 decreased ear pigmentation MP:0011279 visually detectable dilution of pigment present in the outer ear https://orcid.org/0000-0003-3691-0324 irregular or unusual pigmentation of the hair between the last rib and the hip csmith 2011-10-11T11:33:09Z MPheno.ontology MP:0011280 abnormal flank coat pigmentation MP:0011280 irregular or unusual pigmentation of the hair between the last rib and the hip MGI:llw2 any structural anomaly of the cilia of the epithelial cells that line the interior of the nose csmith 2011-10-11T11:36:01Z abnormal olfactory epithelium cilia morphology MPheno.ontology MP:0011281 abnormal olfactory epithelium cilium morphology MP:0011281 any structural anomaly of the cilia of the epithelial cells that line the interior of the nose https://orcid.org/0000-0003-4606-0597 increase in the number of podocytes undergoing programmed cell death; podocyte apoptosis is an early step in the pathophysiological progression to proteinuria and glomerulosclerosis csmith 2011-10-11T02:29:19Z increased glomerular epithelial cell apoptosis increased visceral epithelial cell apoptosis MPheno.ontology MP:0011282 increased podocyte apoptosis MP:0011282 increase in the number of podocytes undergoing programmed cell death; podocyte apoptosis is an early step in the pathophysiological progression to proteinuria and glomerulosclerosis https://orcid.org/0000-0002-6490-7723 anomalous fluid or tissue concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine csmith 2011-10-11T02:33:41Z abnormal erythropoetin level abnormal erythropoietic hormone level abnormal haematopoietin level abnormal haemopoietin level abnormal hematopoietin level abnormal hemopoietin level MPheno.ontology MP:0011283 abnormal erythropoietin level MP:0011283 anomalous fluid or tissue concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 anomalous blood concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine csmith 2011-10-11T02:34:31Z abnormal erythropoetin circulating level abnormal erythropoietic hormone circulating level abnormal haematopoietin circulating level abnormal haemopoietin circulating level abnormal hematopoietin circulating level abnormal hemopoietin circulating level MPheno.ontology MP:0011284 abnormal circulating erythropoietin level MP:0011284 anomalous blood concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 greater blood concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine csmith 2011-10-11T02:35:50Z increased erythropoetin circulating level increased erythropoietic hormone circulating level increased haematopoietin circulating level increased haemopoietin circulating level increased hematopoietin circulating level increased hemopoietin circulating level MPheno.ontology MP:0011285 increased circulating erythropoietin level MP:0011285 greater blood concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 reduced blood concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine csmith 2011-10-11T02:35:50Z decreased erythropoetin circulating level decreased erythropoietic hormone circulating level decreased haematopoietin circulating level decreased haemopoietin circulating level decreased hematopoietin circulating level decreased hemopoietin circulating level reduced erythropoetin circulating level reduced erythropoietic hormone circulating level reduced haematopoietin circulating level reduced haemopoietin circulating level reduced hematopoietin circulating level reduced hemopoietin circulating level MPheno.ontology MP:0011286 decreased circulating erythropoietin level MP:0011286 reduced blood concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 greater fluid or tissue concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine csmith 2011-10-11T02:35:50Z increased erythropoetin level increased erythropoietic hormone level increased haematopoietin level increased haemopoietin level increased hematopoietin level increased hemopoietin level MPheno.ontology MP:0011287 increased erythropoietin level MP:0011287 greater fluid or tissue concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 reduced fluid or tissue concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine csmith 2011-10-11T02:35:50Z decreased erythropoetin level decreased erythropoietic hormone level decreased haematopoietin level decreased haemopoietin level decreased hematopoietin level decreased hemopoietin level reduced erythropoetin level reduced erythropoietic hormone level reduced haematopoietin level reduced haemopoietin level reduced hematopoietin level reduced hemopoietin level MPheno.ontology MP:0011288 decreased erythropoietin level MP:0011288 reduced fluid or tissue concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 anomaly in the total number of the filtering units of the kidney; nephron number can be used as an index of the efficiency of ureteric branching and nephrogenesis csmith 2011-10-11T03:49:41Z MPheno.ontology MP:0011289 abnormal nephron number MP:0011289 anomaly in the total number of the filtering units of the kidney; nephron number can be used as an index of the efficiency of ureteric branching and nephrogenesis https://orcid.org/0000-0002-6490-7723 reduction in the total number of filtering units of the kidney csmith 2011-10-11T03:49:41Z oligonephronia reduced nephron endowment reduced nephron number MPheno.ontology MP:0011290 decreased nephron number MP:0011290 reduction in the total number of filtering units of the kidney https://orcid.org/0000-0002-6490-7723 morphological changes resulting from pathological death of nephron tissue; usually due to irreversible damage csmith 2011-10-11T03:49:41Z necrotic nephron necrotic nephrons MPheno.ontology MP:0011291 nephron necrosis MP:0011291 morphological changes resulting from pathological death of nephron tissue; usually due to irreversible damage https://orcid.org/0000-0002-6490-7723 complete absence of functional filtering units in the kidney csmith 2011-10-11T03:49:41Z MPheno.ontology MP:0011292 absent nephron MP:0011292 complete absence of functional filtering units in the kidney https://orcid.org/0000-0002-6490-7723 stretched or widened aperture of the luminal space of one or more of the filtering units of the kidney csmith 2011-10-11T03:49:41Z dilated nephrons nephron dilation MPheno.ontology MP:0011293 dilated nephron MP:0011293 stretched or widened aperture of the luminal space of one or more of the filtering units of the kidney https://orcid.org/0000-0002-6490-7723 increase in the bulk size of the capillary loops of the kidney that normally function as a filtration unit, due to cell enlargement csmith 2011-10-11T03:52:43Z hypertrophic glomerular capillaries hypertrophic renal glomeruli renal glomerular hypertrophy MPheno.ontology MP:0011294 renal glomerulus hypertrophy MP:0011294 increase in the bulk size of the capillary loops of the kidney that normally function as a filtration unit, due to cell enlargement https://orcid.org/0000-0002-6490-7723 any anomaly in the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa csmith 2011-10-11T03:56:31Z abnormal TGF response abnormal tubuloglomerular feedback mechanism MPheno.ontology MP:0011295 abnormal tubuloglomerular feedback response MP:0011295 any anomaly in the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa https://orcid.org/0000-0002-6490-7723 attenuation of the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa csmith 2011-10-11T03:58:00Z impaired tubuloglomerular feedback mechanism reduced TGF response MPheno.ontology MP:0011296 decreased tubuloglomerular feedback response MP:0011296 attenuation of the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa https://orcid.org/0000-0002-6490-7723 absence of the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa csmith 2011-10-11T03:58:00Z absent TGF response MPheno.ontology MP:0011297 absent tubuloglomerular feedback response MP:0011297 absence of the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the ureter, typically resulting in decreased size csmith 2011-10-11T04:00:19Z hypoplastic ureter rudimentary ureter ureteric hypoplasia MPheno.ontology MP:0011298 ureter hypoplasia MP:0011298 decrease in the number of normal cells in normal arrangement in the ureter, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the specialized group of densely packed epithelial cells marking the origin of the convoluted portion of the distal tubule of a nephron, in contact with the afferent arteriole of the renal corpuscle and contiguous with the juxtaglomerular cells; these cells are tall, thin and columnar, have prominent nuclei, and act as sensors of solute concentration and flow of tubular fluid csmith 2011-10-11T04:01:54Z MPheno.ontology MP:0011299 abnormal macula densa morphology MP:0011299 any structural anomaly of the specialized group of densely packed epithelial cells marking the origin of the convoluted portion of the distal tubule of a nephron, in contact with the afferent arteriole of the renal corpuscle and contiguous with the juxtaglomerular cells; these cells are tall, thin and columnar, have prominent nuclei, and act as sensors of solute concentration and flow of tubular fluid https://orcid.org/0000-0002-6490-7723 any structural anomaly of the specialized smooth muscle cells that synthesize, store, and secrete renin and are found in the wall of each afferent arteriole of a kidney glomerulus near its point of entry adjacent to a macula densa; J-G cells are distinguished by their granulated cytoplasm and play a critical role in the renin-angiotensin system and thus in renal autoregulation csmith 2011-10-11T04:05:39Z abnormal (renal) granular cell morphology abnormal J-G cell morphology MPheno.ontology MP:0011300 abnormal juxtaglomerular cell morphology MP:0011300 any structural anomaly of the specialized smooth muscle cells that synthesize, store, and secrete renin and are found in the wall of each afferent arteriole of a kidney glomerulus near its point of entry adjacent to a macula densa; J-G cells are distinguished by their granulated cytoplasm and play a critical role in the renin-angiotensin system and thus in renal autoregulation https://orcid.org/0000-0002-6490-7723 increased number of the specialized smooth muscle cells that synthesize, store, and secrete renin and are found in the wall of each afferent arteriole of a kidney glomerulus near its point of entry adjacent to a macula densa csmith 2011-10-11T04:05:39Z J-G cell hyperplasia hyperplastic juxtaglomerular cells hyperplastic renal granular cells MPheno.ontology MP:0011301 juxtaglomerular cell hyperplasia MP:0011301 increased number of the specialized smooth muscle cells that synthesize, store, and secrete renin and are found in the wall of each afferent arteriole of a kidney glomerulus near its point of entry adjacent to a macula densa https://orcid.org/0000-0002-6490-7723 any structural anomaly of the light-staining cells in the kidney found outside the glomerulus, near the vascular pole and macula densa; lacis cells form the juxtaglomerular apparatus in combination with two other types of cells: the macula densa of the distal convoluted tubule and juxtaglomerular cells of the afferent arteriole csmith 2011-10-11T04:05:39Z abnormal Goormaghtigh cell morphology abnormal lacis cell morphology MPheno.ontology MP:0011302 abnormal extraglomerular mesangial cell morphology MP:0011302 any structural anomaly of the light-staining cells in the kidney found outside the glomerulus, near the vascular pole and macula densa; lacis cells form the juxtaglomerular apparatus in combination with two other types of cells: the macula densa of the distal convoluted tubule and juxtaglomerular cells of the afferent arteriole https://orcid.org/0000-0002-6490-7723 absence of the apex (tip) of a renal pyramid i.e. the location where each medullary pyramid empties urine into a minor calyx csmith 2011-10-11T04:08:05Z absent kidney papillae absent renal papilla MPheno.ontology MP:0011303 absent kidney papilla MP:0011303 absence of the apex (tip) of a renal pyramid i.e. the location where each medullary pyramid empties urine into a minor calyx https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of the apex (tip) of a renal pyramid associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes csmith 2011-10-11T04:08:05Z atrophied kidney papilla renal papillary atrophy MPheno.ontology MP:0011304 kidney papillary atrophy MP:0011304 acquired diminution of the size of the apex (tip) of a renal pyramid associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 an expansion in the lumen volume or area of one or more of the branches of the renal pelvis that surround each renal papilla and collect urine csmith 2011-10-11T04:14:15Z dilated kidney calyces dilated renal calyces dilated renal calyx kidney calyceal dilation kidney calyx dilation renal calyceal dilation renal calyx dilation MPheno.ontology MP:0011305 dilated kidney calyx MP:0011305 an expansion in the lumen volume or area of one or more of the branches of the renal pelvis that surround each renal papilla and collect urine https://orcid.org/0000-0002-6490-7723 absence of the funnel shaped proximal portion of the ureter, normally formed by convergence of the major calices csmith 2011-10-11T04:15:16Z absent renal pelvis MPheno.ontology MP:0011306 absent kidney pelvis MP:0011306 absence of the funnel shaped proximal portion of the ureter, normally formed by convergence of the major calices https://orcid.org/0000-0002-6490-7723 presence of one or more abnormal membranous sacs in the kidney medulla csmith 2011-10-11T04:18:37Z cystic kidney medulla cystic renal medulla kidney medulla cysts renal medulla cyst renal medulla cysts renal medullary cyst renal medullary cysts MPheno.ontology MP:0011307 kidney medulla cyst MP:0011307 presence of one or more abnormal membranous sacs in the kidney medulla https://orcid.org/0000-0002-6490-7723 presence of one or more abnormal membranous sacs in the corticomedullary junction of the kidney csmith 2011-10-11T04:19:29Z cystic kidney corticomedullary boundary cystic kidney corticomedullary junction kidney cortico-medullary cyst kidney cortico-medullary cysts kidney corticomedullary cysts renal corticomedullary cyst renal corticomedullary cysts MPheno.ontology MP:0011308 kidney corticomedullary cyst MP:0011308 presence of one or more abnormal membranous sacs in the corticomedullary junction of the kidney https://orcid.org/0000-0002-6490-7723 any structural anomaly of the network of tubes that supply blood to the renal tissues csmith 2011-10-12T01:45:11Z MPheno.ontology MP:0011309 abnormal kidney arterial blood vessel morphology MP:0011309 any structural anomaly of the network of tubes that supply blood to the renal tissues https://orcid.org/0000-0003-3691-0324 any structural anomaly of the small branching blood vessels in the kidney that form a network between the arterioles and venules, where the exchange of water, oxygen, carbon dioxide, and other nutrient and waste chemical substances occurs between the blood and the surrounding tissues csmith 2011-10-12T01:46:04Z MPheno.ontology MP:0011310 abnormal kidney capillary morphology MP:0011310 any structural anomaly of the small branching blood vessels in the kidney that form a network between the arterioles and venules, where the exchange of water, oxygen, carbon dioxide, and other nutrient and waste chemical substances occurs between the blood and the surrounding tissues http://en.wikipedia.org/wiki/Capillary https://orcid.org/0000-0003-3691-0324 any structural anomaly of the network of tubes that return blood from the renal tissues to the systemic circulation csmith 2011-10-12T01:46:27Z MPheno.ontology MP:0011311 abnormal kidney venous blood vessel morphology MP:0011311 any structural anomaly of the network of tubes that return blood from the renal tissues to the systemic circulation https://orcid.org/0000-0003-3691-0324 any structural anomaly of the blood vessels that branch from the kidney interlobular artery, convey blood to the glomerular capillaries, and play an important role in the regulation of blood pressure as a part of the tubuloglomerular feedback mechanism csmith 2011-10-12T01:47:23Z abnormal renal afferent arteriole morphology MPheno.ontology MP:0011312 abnormal kidney afferent arteriole morphology MP:0011312 any structural anomaly of the blood vessels that branch from the kidney interlobular artery, convey blood to the glomerular capillaries, and play an important role in the regulation of blood pressure as a part of the tubuloglomerular feedback mechanism ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the blood vessels that convey blood from the glomerulocapillary network to the capillary bed of the proximal convoluted tubule csmith 2011-10-12T01:47:58Z abnormal renal efferent arteriole morphology MPheno.ontology MP:0011313 abnormal kidney efferent arteriole morphology MP:0011313 any structural anomaly of the blood vessels that convey blood from the glomerulocapillary network to the capillary bed of the proximal convoluted tubule ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the network of tubes that supplies blood to the renal cortex csmith 2011-10-12T01:48:36Z abnormal renal cortex arterial system morphology abnormal renal cortex artery morphology MPheno.ontology MP:0011314 abnormal kidney cortex artery morphology MP:0011314 any structural anomaly of the network of tubes that supplies blood to the renal cortex https://orcid.org/0000-0003-3691-0324 any structural anomaly of the curved arteries at the corticomedullary border of the kidney that arise from the interlobar arteries and give rise to the interlobular arteries csmith 2011-10-12T01:49:41Z abnormal arcuate artery morphology abnormal renal arcuate artery morphology MPheno.ontology MP:0011315 abnormal kidney arcuate artery morphology MP:0011315 any structural anomaly of the curved arteries at the corticomedullary border of the kidney that arise from the interlobar arteries and give rise to the interlobular arteries ISBN:0-683-40008-8 any structural anomaly of the branches of the arcuate arteries of the kidney that radiate outward throught the renal columns and supply the glomeruli csmith 2011-10-12T01:49:41Z abnormal cortical radiate arteries morphology abnormal cortical radiate artery morphology abnormal interlobular artery morphology abnormal renal interlobular artery morphology MPheno.ontology abnormal interlobular artery of kidney morphology MP:0011316 abnormal kidney interlobular artery morphology MP:0011316 any structural anomaly of the branches of the arcuate arteries of the kidney that radiate outward throught the renal columns and supply the glomeruli ISBN:0-683-40008-8 any structural anomaly of the pair of major vessels which arise off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supply the kidneys with blood; small branches of the renal artery also supply the suprarenal gland, the ureter and some surrounding tissues csmith 2011-10-12T01:50:57Z MPheno.ontology MP:0011317 abnormal renal artery morphology MP:0011317 any structural anomaly of the pair of major vessels which arise off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supply the kidneys with blood; small branches of the renal artery also supply the suprarenal gland, the ureter and some surrounding tissues https://orcid.org/0000-0003-3691-0324 any structural anomaly of the major vessel which arises off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supplies the right kidney with blood csmith 2011-10-12T01:51:25Z MPheno.ontology MP:0011318 abnormal right renal artery morphology MP:0011318 any structural anomaly of the major vessel which arises off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supplies the right kidney with blood https://orcid.org/0000-0003-3691-0324 any structural anomaly of the major vessel which arises off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supplies the left kidney with blood csmith 2011-10-12T01:51:46Z MPheno.ontology MP:0011319 abnormal left renal artery morphology MP:0011319 any structural anomaly of the major vessel which arises off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supplies the left kidney with blood https://orcid.org/0000-0003-3691-0324 any structural anomaly of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus csmith 2011-10-12T02:18:30Z abnormal glomerulus capillary morphology MPheno.ontology MP:0011320 abnormal glomerular capillary morphology MP:0011320 any structural anomaly of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus https://orcid.org/0000-0003-3691-0324 any structural anomaly of the tiny blood vessels that receive blood from the efferent arterioles of the glomerulus, and interact with superficial cortical nephrons allowing reabsorption and secretion between blood and the inner lumen of the nephron; peritubular capillaries are situated around the tubule and are at low pressure csmith 2011-10-12T02:18:59Z MPheno.ontology MP:0011321 abnormal peritubular capillary morphology MP:0011321 any structural anomaly of the tiny blood vessels that receive blood from the efferent arterioles of the glomerulus, and interact with superficial cortical nephrons allowing reabsorption and secretion between blood and the inner lumen of the nephron; peritubular capillaries are situated around the tubule and are at low pressure https://orcid.org/0000-0003-3691-0324 any structural anomaly of the network of tubes that receives blood from the renal cortex csmith 2011-10-12T02:21:27Z abnormal renal cortex vein morphology MPheno.ontology MP:0011322 abnormal kidney cortex vein morphology MP:0011322 any structural anomaly of the network of tubes that receives blood from the renal cortex https://orcid.org/0000-0003-3691-0324 any structural anomaly of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava csmith 2011-10-12T02:21:27Z MPheno.ontology MP:0011323 abnormal renal vein morphology MP:0011323 any structural anomaly of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly in the straight arteries and arterioles that form a series of straight capillaries in the kidney medulla csmith 2011-10-12T02:21:27Z MPheno.ontology MP:0011324 abnormal kidney vasa recta morphology MP:0011324 any structural anomaly in the straight arteries and arterioles that form a series of straight capillaries in the kidney medulla http://purl.obolibrary.org/obo/UBERON_0004726 any structural anomaly of the veins that parallel the arcuate arteries, receive blood from the interlobular veins and straight venules, and terminate in the interlobar veins csmith 2011-10-12T02:22:12Z abnormal arcuate vein morphology abnormal arciform veins of kidney morphology abnormal arcuate veins of kidney morphology abnormal renal arcuate vein morphology abnormal venae arcuatae renis morphology MPheno.ontology MP:0011325 abnormal kidney arcuate vein morphology MP:0011325 any structural anomaly of the veins that parallel the arcuate arteries, receive blood from the interlobular veins and straight venules, and terminate in the interlobar veins ISBN:0-683-40008-8 any structural anomaly of the veins that parallel the interlobular arteries, receiving blood from the peritubular capillary plexus and empty into the arcuate veins csmith 2011-10-12T02:22:12Z MPheno.ontology MP:0011326 abnormal interlobular vein morphology MP:0011326 any structural anomaly of the veins that parallel the interlobular arteries, receiving blood from the peritubular capillary plexus and empty into the arcuate veins ISBN:0-683-40008-8 any structural anomaly of the longer of the two renal veins that receives blood from the left kidney; the left renal vein usually receives the left inferior phrenic vein, the left suprarenal vein, the left gonadal vein (left testicular vein in males, left ovarian vein in females) and the left second lumbar vein whereas these veins on the right side drain directly into the inferior vena cava csmith 2011-10-12T02:26:43Z MPheno.ontology MP:0011327 abnormal left renal vein morphology MP:0011327 any structural anomaly of the longer of the two renal veins that receives blood from the left kidney; the left renal vein usually receives the left inferior phrenic vein, the left suprarenal vein, the left gonadal vein (left testicular vein in males, left ovarian vein in females) and the left second lumbar vein whereas these veins on the right side drain directly into the inferior vena cava ISBN:0-683-40008-8 any structural anomaly of the shorter of the two renal veins that receives blood from the right kidney; the left renal vein usually receives the left inferior phrenic vein, the left suprarenal vein, the left gonadal vein (left testicular vein in males, left ovarian vein in females) and the left second lumbar vein whereas these veins on the right side drain directly into the inferior vena cava csmith 2011-10-12T02:27:00Z MPheno.ontology MP:0011328 abnormal right renal vein morphology MP:0011328 any structural anomaly of the shorter of the two renal veins that receives blood from the right kidney; the left renal vein usually receives the left inferior phrenic vein, the left suprarenal vein, the left gonadal vein (left testicular vein in males, left ovarian vein in females) and the left second lumbar vein whereas these veins on the right side drain directly into the inferior vena cava ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly in the vasa recta in the inner renal medulla csmith 2011-10-12T02:27:33Z MPheno.ontology MP:0011329 abnormal inner renal medulla vasa recta morphology MP:0011329 any structural anomaly in the vasa recta in the inner renal medulla https://orcid.org/0000-0003-4606-0597 any structural anomaly in the vasa recta in the kidney outer medulla csmith 2011-10-12T02:28:50Z MPheno.ontology MP:0011330 abnormal kidney outer medulla vasa recta morphology MP:0011330 any structural anomaly in the vasa recta in the kidney outer medulla https://orcid.org/0000-0003-4606-0597 any structural anomaly of the largest straight excretory ducts in the kidney medulla and papillae that are a continuation of the collecting tubules, and that open into the area cribosa csmith 2011-10-12T02:46:47Z abnormal Bellini's duct morphology abnormal duct of Bellini morphology MPheno.ontology MP:0011331 abnormal papillary duct morphology MP:0011331 any structural anomaly of the largest straight excretory ducts in the kidney medulla and papillae that are a continuation of the collecting tubules, and that open into the area cribosa ISBN:0-683-40008-8 any structural anomaly of the outer medullary region of the adult kidney containing the short Loops of Henle and collecting ducts csmith 2011-10-12T03:44:46Z MPheno.ontology MP:0011332 abnormal kidney outer medulla morphology MP:0011332 any structural anomaly of the outer medullary region of the adult kidney containing the short Loops of Henle and collecting ducts PMID:20614633 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the inner medullary region of the adult kidney containing collecting ducts and the long loops of Henle csmith 2011-10-12T03:44:46Z MPheno.ontology MP:0011333 abnormal kidney inner medulla morphology MP:0011333 any structural anomaly of the inner medullary region of the adult kidney containing collecting ducts and the long loops of Henle PMID:20614633 https://orcid.org/0000-0003-3691-0324 any structural anomaly in the region found at the periphery of the developing metanephros within which the metanephric mesenchyme aggregates around the tips of the ureteric tree to form the nephrons; in rodents including mice, this region normally disappears within the first postnatal week when nephrogenesis ceases and only mature nephrons are present; in humans, it is lost by 36 weeks of gestation csmith 2011-10-12T03:48:15Z MPheno.ontology MP:0011334 abnormal nephrogenic zone morphology MP:0011334 any structural anomaly in the region found at the periphery of the developing metanephros within which the metanephric mesenchyme aggregates around the tips of the ureteric tree to form the nephrons; in rodents including mice, this region normally disappears within the first postnatal week when nephrogenesis ceases and only mature nephrons are present; in humans, it is lost by 36 weeks of gestation PMID:17452023 any structural anomaly of the smooth muscle tissue surrounding the urothelium of the kidney pelvis csmith 2011-10-12T03:48:15Z MPheno.ontology MP:0011335 abnormal kidney pelvis smooth muscle morphology MP:0011335 any structural anomaly of the smooth muscle tissue surrounding the urothelium of the kidney pelvis https://orcid.org/0000-0003-3691-0324 any structural anomaly of the epithelial lining of the luminal space of the kidney pelvis csmith 2011-10-12T03:48:15Z abnormal kidney pelvis endothelium morphology abnormal kidney pelvis urothelial lining morphology abnormal renal pelvis urothelium morphology MPheno.ontology MP:0011336 abnormal kidney pelvis urothelium morphology MP:0011336 any structural anomaly of the epithelial lining of the luminal space of the kidney pelvis https://orcid.org/0000-0003-3691-0324 any structural anomaly of the part of the renal interstitium surrounding the pelvis csmith 2011-10-12T03:48:15Z MPheno.ontology MP:0011337 abnormal perihilar interstitium morphology MP:0011337 any structural anomaly of the part of the renal interstitium surrounding the pelvis https://orcid.org/0000-0002-6490-7723 any structural anomaly of the extracellular matrix secreted by intraglomerular mesangial cells csmith 2011-10-12T03:58:27Z abnormal ECM morphology abnormal extracellular mesangial matrix morphology mesangial extracellular matrix morphology MPheno.ontology MP:0011338 abnormal mesangial matrix morphology MP:0011338 any structural anomaly of the extracellular matrix secreted by intraglomerular mesangial cells https://orcid.org/0000-0003-3691-0324 any structural anomaly of the inner layer of the glomerulus within the basement membrane surrounding the glomerular capillaries that contain the intraglomerular mesangial cells csmith 2011-10-12T04:00:09Z MA:0002606 MPheno.ontology MP:0011339 abnormal glomerular mesangium morphology MP:0011339 any structural anomaly of the inner layer of the glomerulus within the basement membrane surrounding the glomerular capillaries that contain the intraglomerular mesangial cells https://orcid.org/0000-0003-3691-0324 any structural anomaly of the tissue comprised of mesangial cells that fill the triangular space between the macula densa and the afferent and efferent arterioles of the juxtaglomerular apparatus csmith 2011-10-12T04:01:37Z abnormal polkissen of Zimmermann morphology MPheno.ontology MP:0011340 abnormal extraglomerular mesangium morphology MP:0011340 any structural anomaly of the tissue comprised of mesangial cells that fill the triangular space between the macula densa and the afferent and efferent arterioles of the juxtaglomerular apparatus ISBN:0-683-40008-8 any structural anomaly of the portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure csmith 2011-10-13T09:44:50Z MA:0001679 abnormal ansa nephroni descending limb morphology abnormal descending limb of Henle's loop morphology abnormal descending limb of loop of Henle morphology abnormal descending loop of Henle morphology MPheno.ontology MP:0011341 abnormal loop of Henle descending limb morphology MP:0011341 any structural anomaly of the portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure https://orcid.org/0000-0002-6490-7723 any structural anomaly of the distal part of the loop of Henle that is impermeable to water and actively pumps sodium out of the filtrate to generate the hypertonic interstitium that drives countercurrent exchange; it consists of an initial very thin segment lined by simple squamous epithelium followed by a distal thick segment lined by simple cuboidal epithelium csmith 2011-10-13T09:44:50Z MA:0001676 abnormal ansa nephroni ascending limb morphology abnormal ascending limb of Henle's loop morphology abnormal ascending limb of loop of Henle morphology abnormal ascending loop of Henle morphology MPheno.ontology MP:0011342 abnormal loop of Henle ascending limb morphology MP:0011342 any structural anomaly of the distal part of the loop of Henle that is impermeable to water and actively pumps sodium out of the filtrate to generate the hypertonic interstitium that drives countercurrent exchange; it consists of an initial very thin segment lined by simple squamous epithelium followed by a distal thick segment lined by simple cuboidal epithelium https://orcid.org/0000-0002-6490-7723 any structural anomaly of the initial sub-portion of the ascending loop of Henle localized in the juxtamedullary nephron of the kidney; it is lined by simple squamous epithelium, impermeable to water but permeable to ions and other small particles csmith 2011-10-13T09:44:50Z MA:0001678 abnormal ansa nephroni ascending limb thin segment morphology abnormal thin ascending limb of Henle's loop morphology abnormal thin ascending limb of loop of Henle morphology MPheno.ontology MP:0011343 abnormal loop of Henle ascending limb thin segment morphology MP:0011343 any structural anomaly of the initial sub-portion of the ascending loop of Henle localized in the juxtamedullary nephron of the kidney; it is lined by simple squamous epithelium, impermeable to water but permeable to ions and other small particles https://orcid.org/0000-0002-6490-7723 any structural anomaly of the distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule csmith 2011-10-13T09:44:50Z MA:0001677 abnormal ansa nephroni ascending limb thick segment morphology abnormal distal straight tubule morphology abnormal thick ascending limb of Henle's loop morphology abnormal thick ascending limb of loop of Henle morphology MPheno.ontology MP:0011344 abnormal loop of Henle ascending limb thick segment morphology MP:0011344 any structural anomaly of the distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule https://orcid.org/0000-0002-6490-7723 failure of the developing loop of Henle to elongate and extend into the medullary zone of the kidney csmith 2011-10-13T09:44:50Z truncated ansa nephroni MPheno.ontology MP:0011345 truncated loop of Henle MP:0011345 failure of the developing loop of Henle to elongate and extend into the medullary zone of the kidney https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes mgi 2011-10-14T06:33:12Z atrophic renal tubules MPheno.ontology MP:0011346 renal tubule atrophy MP:0011346 acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 any structural anomaly in the center of a renal, cortical lobule, consisting of the ascending or descending limbs of the loop of Henle or of the collecting tubules; medullary rays are regions where parallel arrays of straight tubules travel perpendicular to the capsule and extend from the cortex to the medulla csmith 2011-10-14T10:08:04Z abnomal kidney cortical medullary ray morphology abnormal Ferrein's pyramid morphology abnormal renal medullary ray morphology MPheno.ontology MP:0011347 abnormal kidney medullary ray morphology MP:0011347 any structural anomaly in the center of a renal, cortical lobule, consisting of the ascending or descending limbs of the loop of Henle or of the collecting tubules; medullary rays are regions where parallel arrays of straight tubules travel perpendicular to the capsule and extend from the cortex to the medulla ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter csmith 2011-10-14T10:29:55Z abnormal GBM morphology abnormal glomerular basement membrane morphology abnormal glomerulus basement membrane morphology abnormal kidney glomerulus basement membrane morphology MPheno.ontology MP:0011348 abnormal renal glomerulus basement membrane morphology MP:0011348 any structural anomaly of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter https://orcid.org/0000-0002-6490-7723 increased or decreased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule csmith 2011-10-14T10:35:12Z abnormal GBM thickness abnormal glomerular basement membrane thickness abnormal glomerulus basement membrane thickness abnormal kidney glomerulus basement membrane thickness MPheno.ontology MP:0011349 abnormal renal glomerulus basement membrane thickness MP:0011349 increased or decreased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule https://orcid.org/0000-0002-6490-7723 any structural anomaly of the densely packed microvilli that cover the luminal surface of epithelial cells of the proximal convoluted tubule; microvilli increase the luminal surface area of cells, sense the fluid flow in the tubule lumen and convert this information via biochemical responses into reabsorption csmith 2011-10-14T11:26:48Z abnormal kidney apical microvillus border morphology abnormal kidney apical microvillus striated border morphology abnormal kidney brush border microvilli morphology abnormal kidney brush border morphology abnormal kidney striated border microvilli morphology abnormal kidney striated border morphology abnormal kidney tubular brush border morphology abnormal kidney tubular striated border morphology abnormal kidney tubule brush border morphology abnormal kidney tubule striated border morphology abnormal renal brush border microvilli morphology abnormal renal brush border morphology abnormal renal microvillus border morphology abnormal renal microvillus striated border morphology abnormal renal proximal tubular brush border morphology abnormal renal proximal tubular striated border morphology abnormal renal proximal tubule brush border morphology abnormal renal proximal tubule striated border morphology abnormal renal striated border microvilli morphology abnormal renal striated border morphology abnormal renal tubular brush border morphology abnormal renal tubular striated border morphology abnormal renal tubule brush border morphology abnormal renal tubule striated border morphology MPheno.ontology MP:0011350 abnormal proximal convoluted tubule brush border morphology MP:0011350 any structural anomaly of the densely packed microvilli that cover the luminal surface of epithelial cells of the proximal convoluted tubule; microvilli increase the luminal surface area of cells, sense the fluid flow in the tubule lumen and convert this information via biochemical responses into reabsorption https://orcid.org/0000-0002-6490-7723 failure to form a brush border of densely packed microvilli on the luminal surface of epithelial cells of the proximal convoluted tubule csmith 2011-10-14T11:33:29Z absent kidney apical microvillus border absent kidney apical microvillus striated border absent kidney brush border absent kidney brush border microvilli absent kidney striated border absent kidney striated border microvilli absent kidney tubular brush border absent kidney tubular striated border absent kidney tubule brush border absent kidney tubule striated border absent renal brush border absent renal brush border microvilli absent renal microvillus border absent renal microvillus striated border absent renal proximal tubular brush border absent renal proximal tubular striated border absent renal proximal tubule brush border absent renal proximal tubule striated border absent renal striated border absent renal striated border microvilli absent renal tubular brush border absent renal tubular striated border absent renal tubule brush border absent renal tubule striated border MPheno.ontology MP:0011351 absent proximal convoluted tubule brush border MP:0011351 failure to form a brush border of densely packed microvilli on the luminal surface of epithelial cells of the proximal convoluted tubule https://orcid.org/0000-0002-6490-7723 attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes csmith 2011-10-14T11:33:29Z kidney apical microvillus border loss kidney apical microvillus striated border loss kidney brush border loss kidney brush border microvilli loss kidney striated border loss kidney striated border microvilli loss kidney tubular brush border loss kidney tubular striated border loss kidney tubule brush border loss kidney tubule striated border loss renal brush border loss renal brush border microvilli loss renal microvillus border loss renal microvillus striated border loss renal proximal tubular brush border loss renal proximal tubular striated border loss renal proximal tubule brush border loss renal proximal tubule striated border loss renal striated border loss renal striated border microvilli loss renal tubular brush border loss renal tubular striated border loss renal tubule brush border loss renal tubule striated border loss MPheno.ontology MP:0011352 proximal convoluted tubule brush border loss MP:0011352 attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes https://orcid.org/0000-0002-6490-7723 increase in the amount of mesangial matrix present in the basement membrane surrounding the glomerular capillaries that also contain the intraglomerular mesangial cells csmith 2011-10-14T12:11:55Z accumulated mesangial matrix expanded extracellular mesangial matrix expanded mesangial extracellular matrix increase in mesangial matrix mesangial matrix expansion thickened mesangial matrix mesangial sclerosis MPheno.ontology MP:0011353 expanded mesangial matrix MP:0011353 increase in the amount of mesangial matrix present in the basement membrane surrounding the glomerular capillaries that also contain the intraglomerular mesangial cells https://orcid.org/0000-0003-3691-0324 complete absence of the tuft formed of capillary loops and mesangium at the beginning of each nephretic tubule in the kidney that normally function as a filtration unit csmith 2011-10-14T03:51:42Z absent glomerular tuft absent glomeruli absent kidney glomerulus absent malpighian glomerulus absent malpighian tuft MPheno.ontology MP:0011354 absent renal glomerulus MP:0011354 complete absence of the tuft formed of capillary loops and mesangium at the beginning of each nephretic tubule in the kidney that normally function as a filtration unit ISBN:0-683-40008-8 any structural anomaly of the branches of the segmental arteries of the kidney that cross between the renal lobes and give rise to the arculate arteries in the cortex csmith 2011-10-17T10:55:39Z abnormal renal interlobar artery morphology MPheno.ontology MP:0011355 abnormal kidney interlobar artery morphology MP:0011355 any structural anomaly of the branches of the segmental arteries of the kidney that cross between the renal lobes and give rise to the arculate arteries in the cortex ISBN:0-683-40008-8 diffuse constriction or narrowing of one or both renal arteries csmith 2011-10-17T11:18:29Z Fyler:2634 RAS MPheno.ontology MP:0011356 renal artery stenosis MP:0011356 diffuse constriction or narrowing of one or both renal arteries https://orcid.org/0000-0003-3691-0324 two or more arteries branch from the abdominal aorta and supply a single kidney csmith 2011-10-17T11:33:25Z MPheno.ontology MP:0011357 supernumerary renal arteries MP:0011357 two or more arteries branch from the abdominal aorta and supply a single kidney https://orcid.org/0000-0003-3691-0324 a protruding sac formed by the dilation of the wall of a renal artery, resulting from a weakening of the vessel wall or heart muscle csmith 2011-10-17T12:03:00Z MPheno.ontology MP:0011358 renal artery aneurysm MP:0011358 a protruding sac formed by the dilation of the wall of a renal artery, resulting from a weakening of the vessel wall or heart muscle https://orcid.org/0000-0003-3691-0324 reduced number of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles csmith 2011-10-17T12:12:22Z decreased glomerulus capillary number reduced glomerular capillary number reduced glomerulus capillary number MPheno.ontology MP:0011359 decreased glomerular capillary number MP:0011359 reduced number of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the kidney cortex, typically resulting in decreased size csmith 2011-10-17T04:11:24Z hypoplastic kidney cortex hypoplastic renal cortex kidney cortical hypoplasia renal cortex hypoplasia renal cortical hypoplasia MPheno.ontology MP:0011360 kidney cortex hypoplasia MP:0011360 decrease in the number of normal cells in normal arrangement in the kidney cortex, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 an ectopic kidney located outside the renal fossa and within the pelvic cavity; pelvic kidneys may also, on occasion, occur as fused midline horseshoe kidneys csmith 2011-10-17T04:14:10Z MPheno.ontology MP:0011361 pelvic kidney MP:0011361 an ectopic kidney located outside the renal fossa and within the pelvic cavity; pelvic kidneys may also, on occasion, occur as fused midline horseshoe kidneys https://orcid.org/0000-0002-6490-7723 an adrenal gland located outside of its normal position csmith 2011-10-17T04:16:00Z adrenal ectopia MPheno.ontology MP:0011362 ectopic adrenal gland MP:0011362 an adrenal gland located outside of its normal position https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of the capillary loops of the kidney associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes csmith 2011-10-17T04:17:57Z atrophic glomeruli shrunken glomeruli MPheno.ontology MP:0011363 renal glomerulus atrophy MP:0011363 acquired diminution of the size of the capillary loops of the kidney associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 any structural anomaly of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord; the metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine csmith 2011-10-18T04:11:52Z abnormal hind kidney morphology abnormal metanephra abnormal metanephroi MPheno.ontology MP:0011364 abnormal metanephros morphology MP:0011364 any structural anomaly of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord; the metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine GO:0001656 reduced size of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord csmith 2011-10-18T04:13:07Z decreased metanephron size reduced metanephron size small hind kidney small metanephra small metanephroi MPheno.ontology MP:0011365 small metanephros MP:0011365 reduced size of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord https://orcid.org/0000-0002-6490-7723 absence of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord csmith 2011-10-18T04:13:07Z absent hind kidney absent metanephra absent metanephroi MPheno.ontology MP:0011366 absent metanephros MP:0011366 absence of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord https://orcid.org/0000-0002-6490-7723 change in the timing or the number of kidney cells undergoing programmed cell death csmith 2011-10-19T11:35:55Z abnormal renal apoptosis MPheno.ontology MP:0011367 abnormal kidney apoptosis MP:0011367 change in the timing or the number of kidney cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increase in the number of cells of the kidney undergoing programmed cell death csmith 2011-10-19T11:38:28Z increased renal apoptosis MPheno.ontology MP:0011368 increased kidney apoptosis MP:0011368 increase in the number of cells of the kidney undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increase in the number of cells of the kidney glomerulus undergoing programmed cell death csmith 2011-10-19T11:40:16Z increased glomerular apoptosis increased glomerular cell apoptosis increased glomerulus cell apoptosis MPheno.ontology MP:0011369 increased renal glomerulus apoptosis MP:0011369 increase in the number of cells of the kidney glomerulus undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increase in the number of phagocytic cells in the capillary tuft of the renal glomerulus undergoing programmed cell death csmith 2011-10-19T11:41:26Z increased deep cell apoptosis increased intercapillary cell apoptosis MPheno.ontology MP:0011370 increased mesangial cell apoptosis MP:0011370 increase in the number of phagocytic cells in the capillary tuft of the renal glomerulus undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 decrease in the number of cells of the kidney undergoing programmed cell death csmith 2011-10-19T11:42:06Z MPheno.ontology MP:0011371 decreased kidney apoptosis MP:0011371 decrease in the number of cells of the kidney undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 decrease in the number of renal tubule cells undergoing programmed cell death csmith 2011-10-19T11:46:26Z MPheno.ontology MP:0011372 decreased renal tubule apoptosis MP:0011372 decrease in the number of renal tubule cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 decrease in the number of phagocytic cells in the capillary tuft of the renal glomerulus undergoing programmed cell death csmith 2011-10-19T11:46:26Z decreased deep cell apoptosis decreased intercapillary cell apoptosis MPheno.ontology MP:0011373 decreased mesangial cell apoptosis MP:0011373 decrease in the number of phagocytic cells in the capillary tuft of the renal glomerulus undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 decrease in the number of podocytes undergoing programmed cell death; podocyte apoptosis is an early step in the pathophysiological progression to proteinuria and glomerulosclerosis csmith 2011-10-19T11:46:26Z decreased glomerular epithelial cell apoptosis decreased visceral epithelial cell apoptosis MPheno.ontology MP:0011374 decreased podocyte apoptosis MP:0011374 decrease in the number of podocytes undergoing programmed cell death; podocyte apoptosis is an early step in the pathophysiological progression to proteinuria and glomerulosclerosis https://orcid.org/0000-0002-6490-7723 decrease in the number of cells of the kidney glomerulus undergoing programmed cell death csmith 2011-10-19T11:46:26Z decreased glomerular apoptosis decreased glomerular cell apoptosis decreased glomerulus cell apoptosis MPheno.ontology MP:0011375 decreased renal glomerulus apoptosis MP:0011375 decrease in the number of cells of the kidney glomerulus undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 any structural anomaly of the region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary csmith 2011-10-19T12:35:50Z abnormal kidney corticomedullary border morphology abnormal kidney corticomedullary boundary zone abnormal kidney corticomedullary junction abnormal renal cortico-medullary border morphology abnormal renal cortico-medullary boundary zone abnormal renal cortico-medullary junction MPheno.ontology MP:0011376 abnormal kidney corticomedullary boundary morphology MP:0011376 any structural anomaly of the region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary https://orcid.org/0000-0002-6490-7723 formation of fibrous tissue in the renal glomerulus as a result of repair or a reactive process csmith 2011-10-19T12:42:42Z fibrotic glomerular capillaries fibrotic glomeruli kidney glomerular fibrosis kidney glomerulus fibrosis renal glomerular fibrosis MPheno.ontology MP:0011377 renal glomerulus fibrosis MP:0011377 formation of fibrous tissue in the renal glomerulus as a result of repair or a reactive process https://orcid.org/0000-0002-6490-7723 any structural anomaly of the deep, centrally located portion of the renal outer medulla that is traversed by thin descending and thick ascending portions of the loops of Henle csmith 2011-10-19T01:45:24Z MPheno.ontology MP:0011378 abnormal kidney outer medulla inner stripe morphology MP:0011378 any structural anomaly of the deep, centrally located portion of the renal outer medulla that is traversed by thin descending and thick ascending portions of the loops of Henle GO:0072057 any structural anomaly of the region of the kidney outer medulla that lies just below the cortex; the proximal straight tubules are present in this region csmith 2011-10-19T01:47:18Z MPheno.ontology MP:0011379 abnormal kidney outer medulla outer stripe morphology MP:0011379 any structural anomaly of the region of the kidney outer medulla that lies just below the cortex; the proximal straight tubules are present in this region MP:0072058 increased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord csmith 2011-10-20T04:03:47Z ventriculomegaly brain ventriculomegaly enlarged cerebral vesicles increased brain ventricle size ventriculomegaly of the brain MPheno.ontology MP:0011380 enlarged brain ventricles MP:0011380 increased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord PMID:37104040 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the portion of a kidney consisting of a renal medullary pyramid and the renal cortex above it; human kidneys have multilobar (multipyramidal) architecture while mice and rats have unilobar (unipyramidal) kidneys 2011-10-21T01:54:13Z abnormal renal lobe morphology kidney lobe dysplasia renal lobe dysplasia MPheno.ontology MP:0011381 abnormal kidney lobe morphology MP:0011381 any structural anomaly of the portion of a kidney consisting of a renal medullary pyramid and the renal cortex above it; human kidneys have multilobar (multipyramidal) architecture while mice and rats have unilobar (unipyramidal) kidneys https://orcid.org/0000-0003-3691-0324 any structural anomaly of the portion of a renal lobe consisting of nephrons grouped around a single medullary ray and draining into a single collecting duct; human kidneys have multilobular, multipapillary architecture while mice and rats have unilobular, unipapillary kidneys csmith 2011-10-21T01:55:00Z abnormal cortical lobule morphology abnormal renal lobule morphology cortical lobule dysplasia kidney lobule dysplasia renal lobule dysplasia MPheno.ontology MP:0011382 abnormal kidney lobule morphology MP:0011382 any structural anomaly of the portion of a renal lobe consisting of nephrons grouped around a single medullary ray and draining into a single collecting duct; human kidneys have multilobular, multipapillary architecture while mice and rats have unilobular, unipapillary kidneys https://orcid.org/0000-0003-3691-0324 any structural anomaly of the tough fibrous layer surrounding the kidney which is covered in a thick layer of perirenal adipose tissue that functions to provide some protection from trauma and damage csmith 2011-10-21T02:19:54Z abnormal renal capsule morphology MPheno.ontology MP:0011383 abnormal kidney capsule morphology MP:0011383 any structural anomaly of the tough fibrous layer surrounding the kidney which is covered in a thick layer of perirenal adipose tissue that functions to provide some protection from trauma and damage https://orcid.org/0000-0002-6490-7723 anomaly in the concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy csmith 2011-10-21T02:24:53Z abnormal luteohormone level abnormal pregnancy hormone level abnormal progestational level hormone MPheno.ontology MP:0011384 abnormal progesterone level MP:0011384 anomaly in the concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy ISBN:0-683-40008-8 anomaly in the concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females csmith 2011-10-21T02:25:30Z MPheno.ontology MP:0011385 abnormal testosterone level MP:0011385 anomaly in the concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females ISBN:0-683-40008-8 increase in the number of cells of the metanephric mesenchyme (MM) undergoing programmed cell death; usually due to failure of MM cells to interact with the ureteric bud (UB) tips after UB invasion csmith 2011-10-21T02:42:31Z increased metanephric blastema apoptosis increased metanephric mesoderm apoptosis increased nephric mesenchyme apoptosis MPheno.ontology MP:0011386 increased metanephric mesenchyme apoptosis MP:0011386 increase in the number of cells of the metanephric mesenchyme (MM) undergoing programmed cell death; usually due to failure of MM cells to interact with the ureteric bud (UB) tips after UB invasion https://orcid.org/0000-0002-6490-7723 absence of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing metanephros; normally, interactions between the ureteric bud and the metanephric mesenchyme lead to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue csmith 2011-10-21T02:42:31Z absent metanephric blastema absent metanephric mesoderm absent nephric mesenchyme MPheno.ontology MP:0011387 absent metanephric mesenchyme MP:0011387 absence of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing metanephros; normally, interactions between the ureteric bud and the metanephric mesenchyme lead to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue https://orcid.org/0000-0002-6490-7723 absence of the hollow, muscular organ that maintains the circulation of the blood csmith 2011-10-21T02:49:27Z absence of heart acardia cardiac agenesis heart agenesis MPheno.ontology MP:0011388 absent heart MP:0011388 absence of the hollow, muscular organ that maintains the circulation of the blood https://orcid.org/0000-0003-4606-0597 absence of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve csmith 2011-10-21T02:55:08Z absent optic disc MPheno.ontology absent optic nerve head MP:0011389 absent optic disk MP:0011389 absence of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve https://orcid.org/0000-0003-4606-0597 absent optic disc https://orcid.org/0000-0002-6490-7723 any functional anomaly of fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes csmith 2011-10-21T03:17:50Z abnormal cardiomyoblast physiology abnormal foetal cardiomyocyte physiology MPheno.ontology MP:0011390 abnormal fetal cardiomyocyte physiology MP:0011390 any functional anomaly of fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes PMID:17429040 https://orcid.org/0000-0003-3691-0324 change in the timing or the number of fetal cardiomyocytes undergoing programmed cell death csmith 2011-10-21T03:20:27Z abnormal fetal cardiomyoblast apoptosis abnormal foetal cardiomyoblast apoptosis abnormal foetal cardiomyocyte apoptosis MPheno.ontology MP:0011391 abnormal fetal cardiomyocyte apoptosis MP:0011391 change in the timing or the number of fetal cardiomyocytes undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 increase in the number of fetal cardiomyocytes undergoing programmed cell death csmith 2011-10-21T03:22:13Z increased fetal cardiomyoblast apoptosis increased foetal cardiomyoblast apoptosis increased foetal cardiomyocyte apoptosis MPheno.ontology MP:0011392 increased fetal cardiomyocyte apoptosis MP:0011392 increase in the number of fetal cardiomyocytes undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 reduction in the number of fetal cardiomyocytes undergoing programmed cell death csmith 2011-10-21T03:22:13Z decreased fetal cardiomyoblast apoptosis decreased foetal cardiomyoblast apoptosis decreased foetal cardiomyocyte apoptosis reduced fetal cardiomyoblast apoptosis reduced fetal cardiomyocyte apoptosis reduced foetal cardiomyoblast apoptosis reduced foetal cardiomyocyte apoptosis MPheno.ontology MP:0011393 decreased fetal cardiomyocyte apoptosis MP:0011393 reduction in the number of fetal cardiomyocytes undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 increase in the ability of the differentiating cardiac muscle cell population to undergo expansion by cell division csmith 2011-10-21T03:25:12Z increased cardiomyoblast proliferation increased foetal cardiomyocyte proliferation MPheno.ontology MP:0011394 increased fetal cardiomyocyte proliferation MP:0011394 increase in the ability of the differentiating cardiac muscle cell population to undergo expansion by cell division https://orcid.org/0000-0003-3691-0324 reduced ability of the differentiating cardiac muscle cell population to undergo expansion by cell division csmith 2011-10-21T03:25:39Z decreased cardiomyoblast proliferation decreased foetal cardiomyocyte proliferation reduced fetal cardiomyocyte proliferation reduced foetal cardiomyoblast proliferation reduced foetal cardiomyocyte proliferation MPheno.ontology reduced fetal cardiomyoblast proliferation MP:0011395 decreased fetal cardiomyocyte proliferation MP:0011395 reduced ability of the differentiating cardiac muscle cell population to undergo expansion by cell division https://orcid.org/0000-0003-3691-0324 any anomaly in the actions, reactions, or performance of an organism during a periodic, readily reversible state of reduced awareness and metabolic activity csmith 2011-10-21T03:37:45Z abnormal sleep behaviour MPheno.ontology MP:0011396 abnormal sleep behavior MP:0011396 any anomaly in the actions, reactions, or performance of an organism during a periodic, readily reversible state of reduced awareness and metabolic activity https://orcid.org/0000-0003-4606-0597 an excessive accumulation of serous fluid in the interstitial connective tissue of a peripheral nerve csmith 2011-10-21T03:43:25Z endoneurial oedema MPheno.ontology MP:0011397 endoneurial edema MP:0011397 an excessive accumulation of serous fluid in the interstitial connective tissue of a peripheral nerve MGI:llw2 measureable anomalies in the fluid of the ganglia and peripheral nerves that lie outside the brain and spinal cord which may interfere with normal nerve physiology csmith 2011-10-21T03:47:07Z abnormal EFP MPheno.ontology MP:0011398 abnormal endoneurial fluid pressure MP:0011398 measureable anomalies in the fluid of the ganglia and peripheral nerves that lie outside the brain and spinal cord which may interfere with normal nerve physiology MGI:llw2 a measureable increase of serous fluid in the interstitial connective tissue of a peripheral nerve which may interefere with normal nerve physiology csmith 2011-10-21T03:50:54Z MPheno.ontology MP:0011399 increased endoneurial fluid pressure MP:0011399 a measureable increase of serous fluid in the interstitial connective tissue of a peripheral nerve which may interefere with normal nerve physiology MGI:llw2 all individuals of a given genotype in a population die before the end of the normal lifespan but time(s) of death are unspecified csmith 2011-10-21T03:57:31Z complete lethality MPheno.ontology MP:0011400 lethality, complete penetrance MP:0011400 all individuals of a given genotype in a population die before the end of the normal lifespan but time(s) of death are unspecified MGI:llw2 anomaly in the process of forming the nonstriated, involuntary muscle tissue of the blood vessels csmith 2011-10-21T04:01:54Z MPheno.ontology MP:0011401 abnormal vascular smooth muscle development MP:0011401 anomaly in the process of forming the nonstriated, involuntary muscle tissue of the blood vessels https://orcid.org/0000-0003-4606-0597 any of the various casts formed from gelled protein precipitated in the distal convoluted tubules and collecting ducts of nephrons and molded to the tubular or duct lumen which dislodge and pass into the urine; types named for their constituent material include acellular casts (e.g. granular, hyaline, waxy, or fatty casts) and cellular casts (e.g. red or white blood cell casts) csmith 2011-10-24T12:54:37Z renal tubular cast renal tubule cast urinary cast MPheno.ontology MP:0011402 renal cast MP:0011402 any of the various casts formed from gelled protein precipitated in the distal convoluted tubules and collecting ducts of nephrons and molded to the tubular or duct lumen which dislodge and pass into the urine; types named for their constituent material include acellular casts (e.g. granular, hyaline, waxy, or fatty casts) and cellular casts (e.g. red or white blood cell casts) https://orcid.org/0000-0002-6490-7723 a diffuse pyogenic infection of the pelvis and parenchyma of the kidney; an ascending urinary tract infection that has reached the pyelum or pelvis of the kidney usually resulting from noncontagious bacterial infection of the bladder csmith 2011-10-24T01:05:42Z nephropyelitis MPheno.ontology MP:0011403 pyelonephritis MP:0011403 a diffuse pyogenic infection of the pelvis and parenchyma of the kidney; an ascending urinary tract infection that has reached the pyelum or pelvis of the kidney usually resulting from noncontagious bacterial infection of the bladder https://orcid.org/0000-0002-6490-7723 acute inflammation of the pelvis of the kidney, caused by bacterial infection csmith 2011-10-24T01:05:42Z kidney pelvis inflammation renal pelvis inflammation MPheno.ontology MP:0011404 pyelitis MP:0011404 acute inflammation of the pelvis of the kidney, caused by bacterial infection https://orcid.org/0000-0002-6490-7723 diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease csmith 2011-10-24T01:05:42Z interstitial nephritis interstitial tubular nephritis tuberulointerstitial nephritis tubulo-interstitial nephritis MPheno.ontology MP:0011405 tubulointerstitial nephritis MP:0011405 diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease https://orcid.org/0000-0002-6490-7723 any structural anomaly in the loose collection of neurons that reside in the rostral medulla close to the medullary surface, ventral and immediately caudal of nVII, that are crucial for CO2 sensing in the brain csmith 2011-10-31T04:13:24Z MPheno.ontology MP:0011406 abnormal retrotrapezoid nucleus morphology MP:0011406 any structural anomaly in the loose collection of neurons that reside in the rostral medulla close to the medullary surface, ventral and immediately caudal of nVII, that are crucial for CO2 sensing in the brain PMID:21900566 https://orcid.org/0000-0003-4606-0597 absence of the region found at the periphery of the developing metanephros within which the metanephric mesenchyme aggregates around the tips of the ureteric tree to form the nephrons;in rodents including mice, this region normally persists for a few days postnatally, although it is lost in humans by 36 weeks of gestation csmith 2011-10-31T04:16:59Z MPheno.ontology MP:0011407 absent nephrogenic zone MP:0011407 absence of the region found at the periphery of the developing metanephros within which the metanephric mesenchyme aggregates around the tips of the ureteric tree to form the nephrons;in rodents including mice, this region normally persists for a few days postnatally, although it is lost in humans by 36 weeks of gestation PMID:17452023 increase in the bulk size of the loop of Henle, the proximal convoluted tubule or the distal convoluted tubule, due to cell enlargement csmith 2011-10-31T04:19:17Z hypertrophic kidney tubules hypertrophic renal tubules kidney tubule hypertrophy MPheno.ontology MP:0011408 renal tubule hypertrophy MP:0011408 increase in the bulk size of the loop of Henle, the proximal convoluted tubule or the distal convoluted tubule, due to cell enlargement https://orcid.org/0000-0002-6490-7723 increased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule csmith 2011-10-31T04:22:16Z GBM thickening thick renal glomerulus basement membrane thickened renal glomerulus basement membrane MPheno.ontology MP:0011409 increased renal glomerulus basement membrane thickness MP:0011409 increased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule https://orcid.org/0000-0002-6490-7723 one or both of the testes located outside the normal pathway of descent into the scrotum csmith 2011-10-31T04:24:26Z ectopic testes ectopic testicle ectopic testicles maldescended testes testicular ectopia testis maldescent MPheno.ontology MP:0011410 ectopic testis MP:0011410 one or both of the testes located outside the normal pathway of descent into the scrotum https://orcid.org/0000-0002-6490-7723 any structural anomaly of the elevation of thickened mesothelium and underlying mesenchyme found on the ventromedial border of the embryonic mesonephros in which the primordial germ cells become embedded, establishing it as the primordium of the testis or ovary csmith 2011-10-31T04:26:50Z abnormal genital ridge morphology MPheno.ontology MP:0011411 abnormal gonadal ridge morphology MP:0011411 any structural anomaly of the elevation of thickened mesothelium and underlying mesenchyme found on the ventromedial border of the embryonic mesonephros in which the primordial germ cells become embedded, establishing it as the primordium of the testis or ovary https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the gonadal ridge, typically resulting in decreased size csmith 2011-10-31T04:27:29Z hypoplastic genital cord hypoplastic genital ridge hypoplastic gonadal ridge MPheno.ontology MP:0011412 gonadal ridge hypoplasia MP:0011412 decrease in the number of normal cells in normal arrangement in the gonadal ridge, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 absence of the usual straw-coloration of the urine csmith 2011-11-01T01:18:41Z colourless urine MPheno.ontology MP:0011413 colorless urine MP:0011413 absence of the usual straw-coloration of the urine https://orcid.org/0000-0002-6490-7723 passage of red colored urine csmith 2011-11-01T01:18:41Z red urine reddish colored urine reddish coloured urine MPheno.ontology MP:0011414 erythruria MP:0011414 passage of red colored urine https://orcid.org/0000-0002-6490-7723 anomaly in the concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule csmith 2011-11-07T10:18:19Z MPheno.ontology MP:0011415 abnormal aldosterone level MP:0011415 anomaly in the concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule ISBN:0-683-40008-8 any structural anomaly of the delicate connective tissue stroma that separates the seminiferous tubules and contains clusters of endocrine Leydig cells which secrete testosterone csmith 2011-11-07T10:36:07Z MA:0002713 abnormal Leydig cell region of testis morphology MPheno.ontology abnormal testis stroma morphology MP:0011416 abnormal testis interstitial tissue morphology MP:0011416 any structural anomaly of the delicate connective tissue stroma that separates the seminiferous tubules and contains clusters of endocrine Leydig cells which secrete testosterone ISBN:0-683-40008-8 abnormal Leydig cell region of testis morphology UBERON:0005212 any anomaly of the directed movement of substances through the kidney csmith 2011-11-08T10:17:22Z MPheno.ontology MP:0011417 abnormal renal transport MP:0011417 any anomaly of the directed movement of substances through the kidney https://orcid.org/0000-0003-3691-0324 presence of white blood cells in the urine csmith 2011-11-08T02:34:21Z leucocyturia leukocytouria MPheno.ontology MP:0011418 leukocyturia MP:0011418 presence of white blood cells in the urine https://orcid.org/0000-0002-6490-7723 presence of red blood cells in the urine csmith 2011-11-08T03:27:10Z MPheno.ontology MP:0011419 Hematuria (presence of blood in the urine), erythrocyturia (presence of red blood cells in the urine),and erythruria (passage of red urine,) are often used interchangeably. erythrocyturia MP:0011419 presence of red blood cells in the urine https://orcid.org/0000-0002-6490-7723 presence of pus in the urine when voided; a sign of inflammation often related to urinary tract infection csmith 2011-11-08T03:28:31Z MPheno.ontology MP:0011420 pyuria MP:0011420 presence of pus in the urine when voided; a sign of inflammation often related to urinary tract infection https://orcid.org/0000-0002-6490-7723 presence of renal cylinders or casts in the urine csmith 2011-11-08T03:29:01Z MPheno.ontology MP:0011421 cylindruria MP:0011421 presence of renal cylinders or casts in the urine https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of the inner portion of the kidney consisting of the renal pyramids, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes csmith 2011-11-08T03:48:01Z atrophic kidney medulla atrophic renal medulla kidney medullary atrophy kidney medullary wasting renal medulla atrophy renal medullary atrophy renal medullary wasting MPheno.ontology MP:0011422 kidney medulla atrophy MP:0011422 acquired diminution of the size of the inner portion of the kidney consisting of the renal pyramids, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of the outer portion of the kidney located between the renal capsule and the renal medulla, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes csmith 2011-11-08T03:48:43Z atrophic kidney cortex atrophic renal cortex kidney cortical atrophy kidney cortical wasting renal cortex atrophy renal cortical atrophy renal cortical wasting MPheno.ontology MP:0011423 kidney cortex atrophy MP:0011423 acquired diminution of the size of the outer portion of the kidney located between the renal capsule and the renal medulla, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 abnormally low amount in the urine of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine csmith 2011-11-08T03:49:43Z decreased urine urate level hypouricosuria hypouricuria MPheno.ontology MP:0011424 decreased urine uric acid level MP:0011424 abnormally low amount in the urine of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine https://orcid.org/0000-0002-6490-7723 any structural anomaly of the kidney region located between the nephrons, ureteric epithelia (ureteric tips, trunk and collecting duct system) and renal vasculature, and composed of renal support cells, including fibroblasts and macrophages, and mesenchymal stroma or interstitial cells; the renal vasculature lies within the renal interstitium but is not a part of it; various conditions can lead to scarring (fibrosis) and congestion of this area, which can cause kidney dysfunction and failure 2011-11-08T04:02:12Z abnormal renal interstitium morphology kidney interstitium dysplasia renal interstitium dysplasia MPheno.ontology MP:0011425 abnormal kidney interstitium morphology MP:0011425 any structural anomaly of the kidney region located between the nephrons, ureteric epithelia (ureteric tips, trunk and collecting duct system) and renal vasculature, and composed of renal support cells, including fibroblasts and macrophages, and mesenchymal stroma or interstitial cells; the renal vasculature lies within the renal interstitium but is not a part of it; various conditions can lead to scarring (fibrosis) and congestion of this area, which can cause kidney dysfunction and failure https://orcid.org/0000-0002-6490-7723 any structural anomaly of the smooth muscle tissue surrounding the epithelium of the ureter csmith 2011-11-08T04:10:17Z abnormal ureteral smooth muscle morphology MPheno.ontology MP:0011426 abnormal ureter smooth muscle morphology MP:0011426 any structural anomaly of the smooth muscle tissue surrounding the epithelium of the ureter https://orcid.org/0000-0002-6490-7723 increased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft csmith 2011-11-08T04:12:43Z increased deep cell number increased intercapillary cell number increased intraglomerular mesangial cell number increased mesangial cellularity mesangial hypercellularity hyperplastic mesangial cells mesangial cell hyperplasia MPheno.ontology MP:0011427 increased mesangial cell number MP:0011427 increased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft https://orcid.org/0000-0002-6490-7723 decreased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft csmith 2011-11-08T04:12:43Z decreased deep cell number decreased intercapillary cell number decreased intraglomerular mesangial cell number decreased mesangial cellularity mesangial hypocellularity reduced mesangial cell number hypoplastic mesangial cells mesangial cell hypoplasia MPheno.ontology MP:0011428 decreased mesangial cell number MP:0011428 decreased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft https://orcid.org/0000-0002-6490-7723 absence of the phagocytic cells in the capillary tuft of the renal glomerulus, normally interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft csmith 2011-11-08T04:12:43Z absent deep cell absent intercapillary cell absent intraglomerular mesangial cell MPheno.ontology MP:0011429 absent mesangial cell MP:0011429 absence of the phagocytic cells in the capillary tuft of the renal glomerulus, normally interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft https://orcid.org/0000-0002-6490-7723 an injurious glomerular process that affects primarily the mesangium, starting with loosening and detachment of its matrix and progressing to dissolution/attenuation with degeneration of mesangial cells; mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis csmith 2011-11-08T04:13:05Z dissolution of the mesangial matrix mesangial cell degeneration MPheno.ontology MP:0011430 mesangiolysis MP:0011430 an injurious glomerular process that affects primarily the mesangium, starting with loosening and detachment of its matrix and progressing to dissolution/attenuation with degeneration of mesangial cells; mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis https://orcid.org/0000-0002-6490-7723 increased volume of urine produced in a specified period of time csmith 2011-11-08T04:17:51Z elevation of urinary volume increase in urine flow increased urinary flow rate MPheno.ontology MP:0011431 increased urine flow rate MP:0011431 increased volume of urine produced in a specified period of time https://orcid.org/0000-0002-6490-7723 reduced volume of urine produced in a specified period of time csmith 2011-11-08T04:17:51Z decreased urinary flow rate reduced urinary flow rate reduced urine flow rate reduction of urinary volume MPheno.ontology MP:0011432 decreased urine flow rate MP:0011432 reduced volume of urine produced in a specified period of time https://orcid.org/0000-0002-6490-7723 obstruction of the normal flux of blood within the renal glomerular capillaries csmith 2011-11-09T12:19:32Z glomerular congestion MPheno.ontology MP:0011433 glomerular capillary congestion MP:0011433 obstruction of the normal flux of blood within the renal glomerular capillaries https://orcid.org/0000-0002-6490-7723 any change in the amount of magnesium in the urine csmith 2011-11-09T12:22:33Z MPheno.ontology MP:0011434 abnormal urine magnesium level MP:0011434 any change in the amount of magnesium in the urine https://orcid.org/0000-0002-6490-7723 higher than normal amount of magnesium in the urine csmith 2011-11-09T12:23:14Z hypermagnesiuria MPheno.ontology MP:0011435 increased urine magnesium level MP:0011435 higher than normal amount of magnesium in the urine https://orcid.org/0000-0002-6490-7723 lower than normal amount of magnesium in the urine csmith 2011-11-09T12:23:14Z hypomagnesiuria MPheno.ontology MP:0011436 decreased urine magnesium level MP:0011436 lower than normal amount of magnesium in the urine https://orcid.org/0000-0002-6490-7723 bleeding in the renal glomerulus csmith 2011-11-09T12:42:10Z glomerular bleeding glomerulus haemorrhage intraglomerular haemorrhage intraglomerular hemorrhage MPheno.ontology MP:0011437 glomerulus hemorrhage MP:0011437 bleeding in the renal glomerulus https://orcid.org/0000-0002-6490-7723 failure of the inner portion of the kidney, normally consisting of the renal pyramids, to form csmith 2011-11-09T12:55:35Z absent renal medulla MPheno.ontology MP:0011438 absent kidney medulla MP:0011438 failure of the inner portion of the kidney, normally consisting of the renal pyramids, to form https://orcid.org/0000-0002-6490-7723 anomaly in the ability of any kidney cell population to undergo expansion by cell division csmith 2011-11-09T12:57:24Z abnormal renal cell proliferation MPheno.ontology MP:0011439 abnormal kidney cell proliferation MP:0011439 anomaly in the ability of any kidney cell population to undergo expansion by cell division https://orcid.org/0000-0002-6490-7723 increase in the expansion rate of any kidney cell population by cell division csmith 2011-11-09T12:58:22Z increased renal cell proliferation MPheno.ontology MP:0011440 increased kidney cell proliferation MP:0011440 increase in the expansion rate of any kidney cell population by cell division https://orcid.org/0000-0002-6490-7723 decrease in the expansion rate of any kidney cell population by cell division csmith 2011-11-09T12:58:22Z decreased renal cell proliferation reduced kidney cell proliferation reduced renal cell proliferation MPheno.ontology MP:0011441 decreased kidney cell proliferation MP:0011441 decrease in the expansion rate of any kidney cell population by cell division https://orcid.org/0000-0002-6490-7723 any anomaly in the directed movement of sodium ions (Na+) by the kidney csmith 2011-11-09T01:50:31Z MPheno.ontology MP:0011442 abnormal renal sodium ion transport MP:0011442 any anomaly in the directed movement of sodium ions (Na+) by the kidney GO:0003096 any anomaly in the directed movement of water (H2O) by the kidney csmith 2011-11-09T01:52:45Z MPheno.ontology MP:0011443 abnormal renal water transport MP:0011443 any anomaly in the directed movement of water (H2O) by the kidney GO:0003097 any anomaly in the kidney processes involved in the maintenance of an internal steady state of water in the body csmith 2011-11-09T01:54:30Z MPheno.ontology MP:0011444 abnormal renal water homeostasis MP:0011444 any anomaly in the kidney processes involved in the maintenance of an internal steady state of water in the body GO:0003091 any anomaly in the process in which proteins are taken up from the collecting ducts and proximal and distal loops of the nephron csmith 2011-11-09T02:16:34Z abnormal renal protein absorption MPheno.ontology MP:0011445 abnormal renal protein reabsorption MP:0011445 any anomaly in the process in which proteins are taken up from the collecting ducts and proximal and distal loops of the nephron GO:0097017 any anomaly in the process in which albumin is taken up from the collecting ducts and proximal and distal loops of the nephron csmith 2011-11-09T02:16:34Z abnormal renal albumin absorption MPheno.ontology MP:0011446 abnormal renal albumin reabsorption MP:0011446 any anomaly in the process in which albumin is taken up from the collecting ducts and proximal and distal loops of the nephron GO:0097018 any anomaly in the process in which glucose is taken up from the collecting ducts and proximal and distal loops of the nephron csmith 2011-11-09T02:16:34Z abnormal nephron glucose absorption abnormal renal glucose absorption MPheno.ontology MP:0011447 abnormal renal glucose reabsorption MP:0011447 any anomaly in the process in which glucose is taken up from the collecting ducts and proximal and distal loops of the nephron GO:0035623 fewer than normal numbers of the neurons that utilize dopamine as a neurotransmitter csmith 2011-11-09T04:05:37Z reduced dopaminergic neuron number MPheno.ontology MP:0011448 decreased dopaminergic neuron number MP:0011448 fewer than normal numbers of the neurons that utilize dopamine as a neurotransmitter https://orcid.org/0000-0003-4606-0597 greater than normal numbers of the neurons that utilize dopamine as a neurotransmitter csmith 2011-11-09T04:05:37Z MPheno.ontology MP:0011449 increased dopaminergic neuron number MP:0011449 greater than normal numbers of the neurons that utilize dopamine as a neurotransmitter https://orcid.org/0000-0003-4606-0597 abnormal location of one or more of the neurons that utilize dopamine as a neurotransmitter csmith 2011-11-09T04:05:37Z ectopic dopaminergic neurons MPheno.ontology MP:0011450 ectopic dopaminergic neuron MP:0011450 abnormal location of one or more of the neurons that utilize dopamine as a neurotransmitter https://orcid.org/0000-0003-4606-0597 greater than normal amount of dopaminergic neuronal cell death following exposure to a neurotoxic compound, such as MPTP-induced cell death occurring through interference in mitochondrial metabolism csmith 2011-11-09T04:09:40Z increased susceptibility to dopamine neuron neurotoxicity MPheno.ontology MP:0011451 increased susceptibility to dopaminergic neuron neurotoxicity MP:0011451 greater than normal amount of dopaminergic neuronal cell death following exposure to a neurotoxic compound, such as MPTP-induced cell death occurring through interference in mitochondrial metabolism https://orcid.org/0000-0003-3691-0324 less than normal amount of dopaminergic neuronal cell death following exposure to a neurotoxic compound, such as MPTP-induced cell death occurring through interference in mitochondrial metabolism csmith 2011-11-09T04:10:54Z decreased susceptibility to dopamine neuron neurotoxicity reduced susceptibility to dopamine neuron neurotoxicity reduced susceptibility to dopaminergic neuron neurotoxicity MPheno.ontology MP:0011452 decreased susceptibility to dopaminergic neuron neurotoxicity MP:0011452 less than normal amount of dopaminergic neuronal cell death following exposure to a neurotoxic compound, such as MPTP-induced cell death occurring through interference in mitochondrial metabolism https://orcid.org/0000-0003-3691-0324 any structural anomaly of the thin, extremely flattened layer of cells that line the interior surface of glomerular capillaries and is densely perforated by large transcellular pores (aka fenestrae or fenestrations) that, unlike those of other fenestrated capillaries, are generally thought to lack diaphragms csmith 2011-11-10T02:54:02Z MPheno.ontology MP:0011453 abnormal glomerular capillary endothelium morphology MP:0011453 any structural anomaly of the thin, extremely flattened layer of cells that line the interior surface of glomerular capillaries and is densely perforated by large transcellular pores (aka fenestrae or fenestrations) that, unlike those of other fenestrated capillaries, are generally thought to lack diaphragms https://orcid.org/0000-0002-6490-7723 any structural anomaly of the large plasma membrane-lined circular pores that perforate the flattened glomerular endothelium and, unlike those of other fenestrated capillaries, are not spanned by diaphragms; the density and size of glomerular fenestrae account, at least in part, for the high permeability of the glomerular capillary wall to water and small solutes csmith 2011-11-10T02:54:02Z abnormal glomerular endothelial fenestrae abnormal glomerular endothelial fenestrations abnormal glomerular fenestrae MPheno.ontology MP:0011454 abnormal glomerular endothelium fenestra morphology MP:0011454 any structural anomaly of the large plasma membrane-lined circular pores that perforate the flattened glomerular endothelium and, unlike those of other fenestrated capillaries, are not spanned by diaphragms; the density and size of glomerular fenestrae account, at least in part, for the high permeability of the glomerular capillary wall to water and small solutes https://orcid.org/0000-0002-6490-7723 absence of the large plasma membrane-lined circular pores that normally perforate the flattened glomerular endothelium; loss of fenestrae may lead to a reduction in the glomerular filtration rate or proteinuria csmith 2011-11-10T02:54:02Z absent glomerular endothelial fenestrae absent glomerular endothelial fenestrations absent glomerular fenestrae MPheno.ontology MP:0011455 absent glomerular endothelium fenestra MP:0011455 absence of the large plasma membrane-lined circular pores that normally perforate the flattened glomerular endothelium; loss of fenestrae may lead to a reduction in the glomerular filtration rate or proteinuria https://orcid.org/0000-0002-6490-7723 any anomaly in the development of the elongated stalk of the ureteric bud that contributes to the morphogenesis of the ureter; the ureter ureteric bud is the initial structure that forms the ureter csmith 2011-11-10T03:46:11Z abnormal metanephric duct morphology MPheno.ontology MP:0011456 abnormal ureter ureteric bud development MP:0011456 any anomaly in the development of the elongated stalk of the ureteric bud that contributes to the morphogenesis of the ureter; the ureter ureteric bud is the initial structure that forms the ureter GO:0035503 any anomaly in the development of the portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros csmith 2011-11-10T03:50:18Z abnormal metanephrogenic diverticulum MPheno.ontology MP:0011457 abnormal metanephric ureteric bud development MP:0011457 any anomaly in the development of the portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros GO:0035502 any change in the amount of chloride ion in the urine csmith 2011-11-11T11:19:31Z MPheno.ontology MP:0011458 abnormal urine chloride ion level MP:0011458 any change in the amount of chloride ion in the urine https://orcid.org/0000-0003-3691-0324 abnormally large amounts of chloride ion in the urine csmith 2011-11-11T11:21:07Z increased urinary chloride MPheno.ontology MP:0011459 increased urine chloride ion level MP:0011459 abnormally large amounts of chloride ion in the urine https://orcid.org/0000-0003-3691-0324 abnormally low amounts of chloride ion in the urine csmith 2011-11-11T11:21:07Z MPheno.ontology MP:0011460 decreased urine chloride ion level MP:0011460 abnormally low amounts of chloride ion in the urine https://orcid.org/0000-0003-3691-0324 any change in the amount of bicarbonate in the urine csmith 2011-11-11T11:30:50Z MPheno.ontology MP:0011461 abnormal urine bicarbonate level MP:0011461 any change in the amount of bicarbonate in the urine https://orcid.org/0000-0003-3691-0324 an increased amount of bicarbonate in the urine compared to the normal state csmith 2011-11-11T11:30:50Z bicarbonaturia MPheno.ontology MP:0011462 increased urine bicarbonate level MP:0011462 an increased amount of bicarbonate in the urine compared to the normal state https://orcid.org/0000-0003-3691-0324 a reduced amount of bicarbonate in the urine compared to the normal state csmith 2011-11-11T11:30:50Z MPheno.ontology MP:0011463 decreased urine bicarbonate level MP:0011463 a reduced amount of bicarbonate in the urine compared to the normal state https://orcid.org/0000-0003-3691-0324 presence of conjugated bilirubin in the urine csmith 2011-11-11T01:51:30Z urinary bilirubin MPheno.ontology MP:0011464 bilirubinuria MP:0011464 presence of conjugated bilirubin in the urine https://orcid.org/0000-0003-3691-0324 any change in the amount of nitrogen in the form of urea in the urine csmith 2011-11-11T03:01:04Z MPheno.ontology MP:0011465 abnormal urine urea nitrogen level MP:0011465 any change in the amount of nitrogen in the form of urea in the urine https://orcid.org/0000-0003-3691-0324 abnormally high amounts of nitrogen in the form of urea in the urine csmith 2011-11-11T03:08:15Z MPheno.ontology MP:0011466 increased urine urea nitrogen level MP:0011466 abnormally high amounts of nitrogen in the form of urea in the urine https://orcid.org/0000-0003-3691-0324 abnormally low amounts of nitrogen in the form of urea in the urine csmith 2011-11-11T03:08:15Z MPheno.ontology MP:0011467 decreased urine urea nitrogen level MP:0011467 abnormally low amounts of nitrogen in the form of urea in the urine https://orcid.org/0000-0003-3691-0324 any anomaly in the amount in the urine of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group csmith 2011-11-15T10:00:07Z MPheno.ontology MP:0011468 abnormal urine amino acid level MP:0011468 any anomaly in the amount in the urine of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group CHEBI:33709 https://orcid.org/0000-0003-3691-0324 any change in the amount of creatinine in the urine csmith 2011-11-15T10:16:50Z MPheno.ontology MP:0011469 abnormal urine creatinine level MP:0011469 any change in the amount of creatinine in the urine https://orcid.org/0000-0003-3691-0324 an increased amount of creatinine in the urine compared to the normal state csmith 2011-11-15T10:18:40Z MPheno.ontology MP:0011470 increased urine creatinine level MP:0011470 an increased amount of creatinine in the urine compared to the normal state https://orcid.org/0000-0003-3691-0324 a reduced amount of creatinine in the urine compared to the normal state csmith 2011-11-15T10:18:40Z reduced urine creatinine level MPheno.ontology MP:0011471 decreased urine creatinine level MP:0011471 a reduced amount of creatinine in the urine compared to the normal state https://orcid.org/0000-0003-3691-0324 any change in the amount of glycosaminoglycan in the urine, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit csmith 2011-11-15T10:23:57Z abnormal urine GAG level abnormal urine mucopolysaccharide level MPheno.ontology MP:0011472 abnormal urine glycosaminoglycan level MP:0011472 any change in the amount of glycosaminoglycan in the urine, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit https://orcid.org/0000-0003-3691-0324 greater in the amount of glycosaminoglycan in the urine, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit csmith 2011-11-15T10:27:09Z increased urine GAG level increased urine mucopolysaccharide level mucopolysacchariduria MPheno.ontology MP:0011473 increased urine glycosaminoglycan level MP:0011473 greater in the amount of glycosaminoglycan in the urine, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit https://orcid.org/0000-0003-3691-0324 reduced amount of glycosaminoglycan in the urine, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit csmith 2011-11-15T10:27:09Z decreased urine GAG level decreased urine mucopolysaccharide level reduced urine GAG level reduced urine glycosaminoglycan level MPheno.ontology MP:0011474 decreased urine glycosaminoglycan level MP:0011474 reduced amount of glycosaminoglycan in the urine, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit https://orcid.org/0000-0003-3691-0324 any change in the amount of glycosaminoglycan, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit csmith 2011-11-15T11:11:41Z abnormal GAG level abnormal mucopolysaccharide level MPheno.ontology MP:0011475 abnormal glycosaminoglycan level MP:0011475 any change in the amount of glycosaminoglycan, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit https://orcid.org/0000-0003-3691-0324 any change in the urinary level of glycosamines consisting of a nucleobase, a five-carbon sugar moiety (ribose or deoxyribose), and may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates) csmith 2011-11-15T02:05:08Z MPheno.ontology MP:0011476 abnormal urine nucleotide level MP:0011476 any change in the urinary level of glycosamines consisting of a nucleobase, a five-carbon sugar moiety (ribose or deoxyribose), and may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates) https://orcid.org/0000-0003-3691-0324 any change in the urinary level of glycosylamines consisting of a nucleobase bound to a ribose or deoxyribose sugar via a beta-glycosidic linkage, including cytidine, uridine, adenosine, guanosine, thymidine and inosine and deoxynucleosides csmith 2011-11-15T02:05:08Z MPheno.ontology MP:0011477 abnormal urine nucleoside level MP:0011477 any change in the urinary level of glycosylamines consisting of a nucleobase bound to a ribose or deoxyribose sugar via a beta-glycosidic linkage, including cytidine, uridine, adenosine, guanosine, thymidine and inosine and deoxynucleosides https://orcid.org/0000-0003-3691-0324 any anomaly in the urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines act as hormones or neurotransmitters and are derived from the amino acid tyrosine csmith 2011-11-15T02:26:09Z MPheno.ontology MP:0011478 abnormal urine catecholamine level MP:0011478 any anomaly in the urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines act as hormones or neurotransmitters and are derived from the amino acid tyrosine https://orcid.org/0000-0003-3691-0324 any anomaly in the amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines are act as hormones or neurotransmitters and are derived from the amino acid tyrosine csmith 2011-11-15T02:28:32Z MPheno.ontology MP:0011479 abnormal catecholamine level MP:0011479 any anomaly in the amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines are act as hormones or neurotransmitters and are derived from the amino acid tyrosine https://orcid.org/0000-0003-3691-0324 any anomaly in the wavelike sequence of involuntary muscular contraction and relaxation that passes along the ureter, thus propelling urine from the kidney pelvis to the urinary bladder csmith 2011-11-15T02:44:11Z impaired pyeloureteral peristalsis impaired pyeloureteric peristalsis impaired ureteral peristalsis MPheno.ontology MP:0011480 impaired ureteric peristalsis MP:0011480 any anomaly in the wavelike sequence of involuntary muscular contraction and relaxation that passes along the ureter, thus propelling urine from the kidney pelvis to the urinary bladder https://orcid.org/0000-0002-6490-7723 adhesion of the iris to the cornea csmith 2011-11-15T02:49:12Z MP:0006233 anterior synechia anterior synechiae corneal adhesion to iris irido-corneal adhesion irido-corneal synechia irido-corneal synechiae iridocorneal synechia iridocorneal synechiae MPheno.ontology MP:0011481 anterior iris synechia MP:0011481 adhesion of the iris to the cornea https://orcid.org/0000-0002-6490-7723 adhesion of the iris to the capsule of the lens or to the surface of the vitreous body csmith 2011-11-15T02:53:08Z posterior iris synechiae posterior synechia MPheno.ontology MP:0011482 posterior iris synechia MP:0011482 adhesion of the iris to the capsule of the lens or to the surface of the vitreous body https://orcid.org/0000-0002-6490-7723 presence of adhesions (synechiae) between the Bowman's capsule and the glomerular tuft; may develop when areas of glomerular capillary basement membrane denuded of visceral epithelial cells come in contact with the parietal epithelium of Bowman's capsule csmith 2011-11-15T02:55:19Z Bowman's capsule adhesions glomerular synechiae glomerular to capsule adhesions glomerular tuft adhesions glomerular tuft synechia glomerular tuft synechiae glomerulo-capsular synechia glomerulo-capsular synechiae MPheno.ontology MP:0011483 renal glomerular synechia MP:0011483 presence of adhesions (synechiae) between the Bowman's capsule and the glomerular tuft; may develop when areas of glomerular capillary basement membrane denuded of visceral epithelial cells come in contact with the parietal epithelium of Bowman's capsule https://orcid.org/0000-0002-6490-7723 any structural anomaly of the epithelial lining of the luminal space of the ureter csmith 2011-11-18T12:14:19Z MPheno.ontology MP:0011484 abnormal ureter urothelium morphology MP:0011484 any structural anomaly of the epithelial lining of the luminal space of the ureter https://orcid.org/0000-0003-3691-0324 any structural anomaly of the epithelial lining of the luminal space of the urethra csmith 2011-11-18T12:20:07Z MPheno.ontology MP:0011485 abnormal urethra urothelium morphology MP:0011485 any structural anomaly of the epithelial lining of the luminal space of the urethra https://orcid.org/0000-0003-3691-0324 an abnormally placed opening of the ureter, either into the urinary bladder or at another site in the lower urinary or genital tract; commonly a result of a duplicated renal collecting system, a duplex kidney with two ureters where usually one ureter terminates at the urinary bladder, while the duplicated ureter being ectopic, ends in the vagina, the urethra or the vulval vestibule csmith 2011-11-18T01:18:28Z ureteral ectopia MPheno.ontology MP:0011486 ectopic ureter MP:0011486 an abnormally placed opening of the ureter, either into the urinary bladder or at another site in the lower urinary or genital tract; commonly a result of a duplicated renal collecting system, a duplex kidney with two ureters where usually one ureter terminates at the urinary bladder, while the duplicated ureter being ectopic, ends in the vagina, the urethra or the vulval vestibule https://orcid.org/0000-0002-6490-7723 any structural anomaly of the junction between the ureter and the renal pelvis of the kidney csmith 2011-11-18T01:25:31Z abnormal pelviureteric junction morphology MPheno.ontology MP:0011487 abnormal ureteropelvic junction morphology MP:0011487 any structural anomaly of the junction between the ureter and the renal pelvis of the kidney https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the valve-like structure found at the site of entry of the ureter into the urinary bladder, normally displays an oblique angulation through the detrusor to avoid reflux of urine up the ureters and the kidney csmith 2011-11-18T01:26:31Z abnormal vesicoureteral junction morphology MPheno.ontology MP:0011488 abnormal ureterovesical junction morphology MP:0011488 any structural anomaly of the valve-like structure found at the site of entry of the ureter into the urinary bladder, normally displays an oblique angulation through the detrusor to avoid reflux of urine up the ureters and the kidney https://orcid.org/0000-0003-3691-0324 congenital absence or closure of the connection between the ureter and the renal pelvis csmith 2011-11-18T01:29:17Z pelviureteric junction atresia MPheno.ontology MP:0011489 ureteropelvic junction atresia MP:0011489 congenital absence or closure of the connection between the ureter and the renal pelvis https://orcid.org/0000-0002-6490-7723 abnormal narrowing or constriction of the junction between the ureter and the renal pelvis csmith 2011-11-18T01:29:17Z pelviureteric junction stenosis MPheno.ontology MP:0011490 ureteropelvic junction stenosis MP:0011490 abnormal narrowing or constriction of the junction between the ureter and the renal pelvis https://orcid.org/0000-0002-6490-7723 a partial or total blockage of the flow of urine through the junction of the renal pelvis and the proximal ureter csmith 2011-11-18T01:29:17Z pelviureteric junction obstruction MPheno.ontology MP:0011491 ureteropelvic junction obstruction MP:0011491 a partial or total blockage of the flow of urine through the junction of the renal pelvis and the proximal ureter https://orcid.org/0000-0002-6490-7723 a partial or total blockage of the valve-like structure found at the site of entry of the ureter into the urinary bladder csmith 2011-11-18T01:31:53Z vesicoureteral junction obstruction MPheno.ontology MP:0011492 ureterovesical junction obstruction MP:0011492 a partial or total blockage of the valve-like structure found at the site of entry of the ureter into the urinary bladder https://orcid.org/0000-0002-6490-7723 two ureters open separately into the renal pelvis superiorly and drain separately into the urinary bladder or genital tract; if two ureteral buds arise from the Wolffian duct, a duplex kidney with complete ureteral duplication ensues where the additional ureter may result in a ureterocele, or an ectopic ureter csmith 2011-11-18T01:43:54Z complete ureteral duplication duplex ureter duplicated ureter duplication of ureter MPheno.ontology MP:0011493 double ureter MP:0011493 two ureters open separately into the renal pelvis superiorly and drain separately into the urinary bladder or genital tract; if two ureteral buds arise from the Wolffian duct, a duplex kidney with complete ureteral duplication ensues where the additional ureter may result in a ureterocele, or an ectopic ureter http://emedicine.medscape.com/article/378075-overview https://orcid.org/0000-0002-6490-7723 hair and/or skin coloration shows specific and consistent deviations from an expected display csmith 2011-11-18T02:22:56Z MPheno.ontology MP:0011494 abnormal pigmentation pattern MP:0011494 hair and/or skin coloration shows specific and consistent deviations from an expected display MGI:llw2 any anomaly in the characteristic surface outline or contour of a head of an organism csmith 2011-11-18T02:53:23Z MPheno.ontology MP:0011495 abnormal head shape MP:0011495 any anomaly in the characteristic surface outline or contour of a head of an organism https://orcid.org/0000-0003-3691-0324 anomaly in the average size of the portion of the body containing the brain and organs of sight, hearing, taste, and smell csmith 2011-11-18T02:56:49Z MPheno.ontology MP:0011496 abnormal head size MP:0011496 anomaly in the average size of the portion of the body containing the brain and organs of sight, hearing, taste, and smell https://orcid.org/0000-0003-3691-0324 any structural anomaly of the inner layer of the glomerular capsule surrounding the capillary endothelial cells and composed of highly specialized epithelial cells (podocytes) that are separated by filtration slits; the visceral layer is separated from the outer parietal layer by the urinary space (also known as the Bowman's or capsular space) csmith 2011-11-22T01:49:15Z abnormal Bowman's visceral epithelium morphology abnormal visceral epithelium of Bowman's capsule abnormal visceral layer of Bowman's capsule abnormal visceral layer of glomerular capsule MPheno.ontology MP:0011497 abnormal glomerular capsule visceral layer morphology MP:0011497 any structural anomaly of the inner layer of the glomerular capsule surrounding the capillary endothelial cells and composed of highly specialized epithelial cells (podocytes) that are separated by filtration slits; the visceral layer is separated from the outer parietal layer by the urinary space (also known as the Bowman's or capsular space) https://orcid.org/0000-0002-6490-7723 any structural anomaly of the outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium csmith 2011-11-22T01:49:15Z abnormal Bowman's parietal epithelium morphology abnormal parietal epithelium of Bowman's capsule abnormal parietal layer of Bowman's capsule abnormal parietal layer of glomerular capsule MPheno.ontology MP:0011498 abnormal glomerular capsule parietal layer morphology MP:0011498 any structural anomaly of the outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium https://orcid.org/0000-0002-6490-7723 any structural anomaly of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries csmith 2011-11-22T01:49:15Z abnormal Bowman's space morphology abnormal glomerular urinary space morphology MPheno.ontology MP:0011499 abnormal glomerular capsule space morphology MP:0011499 any structural anomaly of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries https://orcid.org/0000-0003-3691-0324 reduced volume of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries csmith 2011-11-22T01:53:25Z decreased Bowman's space decreased glomerular urinary space reduced Bowman's space reduced glomerular capsule space reduced glomerular urinary space MPheno.ontology MP:0011500 decreased glomerular capsule space MP:0011500 reduced volume of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries https://orcid.org/0000-0003-3691-0324 increased volume of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries csmith 2011-11-22T02:05:15Z enlarged Bowman's space expansion of Bowman's space increased Bowman's space increased glomerular urinary space MPheno.ontology Bowman's space dilation dilated Bowman's space MP:0011501 increased glomerular capsule space MP:0011501 increased volume of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries https://orcid.org/0000-0003-3691-0324 a metaplastic change or transformation of the single layer of the parietal epithelium of Bowman's capsule from the normal structural appearance of simple squamous epithelium to a cuboidal or low columnar epithelium; also referred to as a prominent parietal epithelium csmith 2011-11-22T02:19:44Z cuboidal capsular metaplasia metaplasia of parietal Bowman's capsular epithelium metaplasia of parietal capsular epithelium metaplasia of the parietal layer of Bowman's capsule tubular metaplasia of Bowman's epithelium MPheno.ontology MP:0011502 parietal capsular epithelium metaplasia MP:0011502 a metaplastic change or transformation of the single layer of the parietal epithelium of Bowman's capsule from the normal structural appearance of simple squamous epithelium to a cuboidal or low columnar epithelium; also referred to as a prominent parietal epithelium https://orcid.org/0000-0002-6490-7723 an expansion in the volume of the portion of the small intestine that extends from the duodenum to the ileum csmith 2011-11-22T03:14:15Z dilated jejunum jejunal dilation jejunal distension jejunum dilation jejunum distension mega-jejunum swollen jejunum MPheno.ontology MP:0011503 distended jejunum MP:0011503 an expansion in the volume of the portion of the small intestine that extends from the duodenum to the ileum https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the several elongated bones of the extremities csmith 2011-12-01T02:34:16Z MPheno.ontology MP:0011504 abnormal limb long bone morphology MP:0011504 any structural anomaly of any of the several elongated bones of the extremities https://orcid.org/0000-0003-3691-0324 a skeletal dysplasia characterized by the bending of the long bones of the extremities csmith 2011-12-01T02:38:20Z MPheno.ontology campomelia MP:0011505 camptomelia MP:0011505 a skeletal dysplasia characterized by the bending of the long bones of the extremities ISBN:0-683-40008-8 formation of a crescent-shaped (semi-lunar) glomerular lesion corresponding to extracapillary proliferation of Bowman's capsular epithelium and acquiring a fibroblast-like spindled morphology, possibly stimulated by release of fibrinogen from a ruptured glomerular basement membrane; epithelial crescents occur in aggressive forms of glomerulonephritis, may be accompanied by collagen and fibrin deposition and/or monocyte and macrophage proliferation, may protrude into Bowman's space, and ultimately compress and destroy the glomerular tuft csmith 2011-12-02T04:16:51Z MPheno.ontology MP:0011506 glomerular crescent MP:0011506 formation of a crescent-shaped (semi-lunar) glomerular lesion corresponding to extracapillary proliferation of Bowman's capsular epithelium and acquiring a fibroblast-like spindled morphology, possibly stimulated by release of fibrinogen from a ruptured glomerular basement membrane; epithelial crescents occur in aggressive forms of glomerulonephritis, may be accompanied by collagen and fibrin deposition and/or monocyte and macrophage proliferation, may protrude into Bowman's space, and ultimately compress and destroy the glomerular tuft https://orcid.org/0000-0002-6490-7723 any anomaly in the formation or presence of one or more thrombi within the blood vessel network of the organ of secretion csmith 2011-12-02T04:18:56Z kidney thrombi renal thrombi renal thrombosis MPheno.ontology MP:0011507 abnormal kidney thrombosis MP:0011507 any anomaly in the formation or presence of one or more thrombi within the blood vessel network of the organ of secretion https://orcid.org/0000-0002-6490-7723 any anomaly in the formation or presence of one or more thrombi within the renal glomerular capillaries csmith 2011-12-02T04:20:02Z MPheno.ontology MP:0011508 abnormal glomerular capillary thrombosis MP:0011508 any anomaly in the formation or presence of one or more thrombi within the renal glomerular capillaries https://orcid.org/0000-0002-6490-7723 stretched or widened aperture of the luminal space of one or more of the small branching blood vessels in the kidney glomerulus that receive blood from the kidney afferent arterioles csmith 2011-12-02T04:23:54Z ballooned glomerulus capillary lumen dilated glomerular capillaries glomerular capillary dilation MPheno.ontology MP:0011509 dilated glomerular capillary MP:0011509 stretched or widened aperture of the luminal space of one or more of the small branching blood vessels in the kidney glomerulus that receive blood from the kidney afferent arterioles https://orcid.org/0000-0002-6490-7723 csmith 2011-12-05T02:14:12Z Fyler:0159 Fyler:159 MPheno.ontology MP:0011510 biventricular, discordant atrioventricular connection MP:0011510 csmith 2011-12-05T02:14:34Z Fyler:0160 Fyler:160 MPheno.ontology MP:0011511 biventricular, ambiguous atrioventricular connection MP:0011511 spreading of mesangial cells into the contiguous space between the adjacent glomerular endothelial cells and the glomerular basement membrane (GBM) csmith 2011-12-05T02:15:55Z MPheno.ontology MP:0011512 mesangial cell interposition MP:0011512 spreading of mesangial cells into the contiguous space between the adjacent glomerular endothelial cells and the glomerular basement membrane (GBM) https://orcid.org/0000-0002-6490-7723 any structural anomaly of the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck csmith 2011-12-08T03:02:10Z MA:0002077 MPheno.ontology MP:0011513 abnormal vertebral artery morphology MP:0011513 any structural anomaly of the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck ISBN:0-683-40008-8 bleeding into the skin csmith 2011-12-08T04:07:33Z cutaneous bleeding cutaneous haemorrhage cutaneous hemorrhage skin haemorrhage MPheno.ontology MP:0011514 skin hemorrhage MP:0011514 bleeding into the skin https://orcid.org/0000-0002-6490-7723 a smooth, moderately sized hemorrhagic area, typically dark red to reddish purple, resulting from extarvasation of blood into the skin, mucous membrane, or serosal surface; a pupura becomes brown-yellow as it fades and does not blanch on applying pressure csmith 2011-12-08T04:09:08Z purpurae MPheno.ontology MP:0011515 purpura MP:0011515 a smooth, moderately sized hemorrhagic area, typically dark red to reddish purple, resulting from extarvasation of blood into the skin, mucous membrane, or serosal surface; a pupura becomes brown-yellow as it fades and does not blanch on applying pressure https://orcid.org/0000-0002-6490-7723 high urinary levels of aspartylglucosamine, a derivative of aspartic acid; caused by deficient activity of the enzyme N-aspartyl-beta-glucosaminidase (aspartylglucosaminidase) which normally cleaves long sugar chains known as oligosaccharides in the lysosome csmith 2011-12-08T04:14:45Z AGU aspartylglycosaminuria MPheno.ontology MP:0011516 aspartylglucosaminuria MP:0011516 high urinary levels of aspartylglucosamine, a derivative of aspartic acid; caused by deficient activity of the enzyme N-aspartyl-beta-glucosaminidase (aspartylglucosaminidase) which normally cleaves long sugar chains known as oligosaccharides in the lysosome https://orcid.org/0000-0002-6490-7723 abnormally high levels of oxalic acid or oxalates in the urine; many metal ions form insoluble precipitates with oxalate, a prominent example being calcium oxalate, the primary constituent of the most common kind of kidney stones csmith 2011-12-08T04:18:31Z oxaluria MPheno.ontology MP:0011517 hyperoxaluria MP:0011517 abnormally high levels of oxalic acid or oxalates in the urine; many metal ions form insoluble precipitates with oxalate, a prominent example being calcium oxalate, the primary constituent of the most common kind of kidney stones https://orcid.org/0000-0002-6490-7723 any anomaly in the directed movement of a motile cell guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) csmith 2011-12-09T01:53:06Z MPheno.ontology abnormal directed cell migration MP:0011518 abnormal cell chemotaxis MP:0011518 any anomaly in the directed movement of a motile cell guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) GO:0060326 anomaly in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood csmith 2011-12-09T03:29:30Z MPheno.ontology MP:0011519 abnormal placenta labyrinth size MP:0011519 anomaly in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood https://orcid.org/0000-0003-3691-0324 increase in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood csmith 2011-12-09T03:29:30Z enlarged placental labyrinth MPheno.ontology MP:0011520 increased placental labyrinth size MP:0011520 increase in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood https://orcid.org/0000-0003-3691-0324 reduction in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood csmith 2011-12-09T03:29:30Z reduced placental labyrinth size small placental labyrinth MPheno.ontology MP:0011521 decreased placental labyrinth size MP:0011521 reduction in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood https://orcid.org/0000-0003-3691-0324 any structural anomaly of the vascularized and branched structures arising from the rodent trophoblast-derived epithelium that allow an increase its surface area for the efficient exchange of nutrients and wastes between the maternal and fetal circulation csmith 2011-12-09T03:29:30Z MPheno.ontology MP:0011522 abnormal placental labyrinth villi morphology MP:0011522 any structural anomaly of the vascularized and branched structures arising from the rodent trophoblast-derived epithelium that allow an increase its surface area for the efficient exchange of nutrients and wastes between the maternal and fetal circulation PMID:16916377 decrease in the width of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood csmith 2011-12-09T03:29:30Z MPheno.ontology MP:0011523 thin placenta labyrinth MP:0011523 decrease in the width of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood https://orcid.org/0000-0003-3691-0324 increase in the width of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood csmith 2011-12-09T03:29:30Z MPheno.ontology MP:0011524 thick placenta labyrinth MP:0011524 increase in the width of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood https://orcid.org/0000-0003-3691-0324 any structural anomaly of the spaces of the placenta occupied by maternal blood, into which the fetal labyrinth villi project csmith 2011-12-09T03:29:30Z abnormal maternal placental labyrinth lumen morphology abnormal placenta intervillous maternal space morphology abnormal placenta maternal blood lumen morphology abnormal placenta maternal blood space morphology MPheno.ontology MP:0011525 abnormal placenta intervillous maternal lacunae morphology MP:0011525 any structural anomaly of the spaces of the placenta occupied by maternal blood, into which the fetal labyrinth villi project https://orcid.org/0000-0003-3691-0324 any structural anomaly of the spaces of the placenta occupied by fetal blood, primarily within the fetal labyrinth villi csmith 2011-12-09T03:29:30Z abnormal placenta foetal blood space morphology MPheno.ontology abnormal placenta embryonic blood space morphology MP:0011526 abnormal placenta fetal blood space morphology MP:0011526 any structural anomaly of the spaces of the placenta occupied by fetal blood, primarily within the fetal labyrinth villi https://orcid.org/0000-0003-3691-0324 derangement of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood csmith 2011-12-09T03:29:30Z disorganised placental labyrinth MPheno.ontology MP:0011527 disorganized placental labyrinth MP:0011527 derangement of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood https://orcid.org/0000-0003-3691-0324 any anomaly in the process in which the branches of the fetal placental villi are generated and organized from the trophoblast-derived epithelium csmith 2011-12-09T03:29:53Z GO:0060670 MPheno.ontology MP:0011528 abnormal placental labyrinth villi branching morphogenesis MP:0011528 any anomaly in the process in which the branches of the fetal placental villi are generated and organized from the trophoblast-derived epithelium PMID:16916377 increased size of the spaces of the placenta occupied by maternal blood, into which the fetal labyrinth villi project csmith 2011-12-09T03:57:36Z increased maternal placental labyrinth lumen size increased placenta intervillous maternal space size increased placenta maternal blood lumen size increased placenta maternal blood space size MPheno.ontology MP:0011529 increased placenta intervillous maternal lacunae size MP:0011529 increased size of the spaces of the placenta occupied by maternal blood, into which the fetal labyrinth villi project https://orcid.org/0000-0003-3691-0324 anomaly of the radius and ulna resulting in some portion of or all the two bones being merged together csmith 2011-12-12T10:36:21Z fusion of radius and ulna radius and ulna fusion MPheno.ontology MP:0011530 fused radius and ulna MP:0011530 anomaly of the radius and ulna resulting in some portion of or all the two bones being merged together https://orcid.org/0000-0003-3691-0324 any structural anomaly of the multi-nucleated, terminally differentiated syncytial epithelial layer of the placental villi that forms the major nutrient transport surfaces within the labyrinth layer of the rodent placenta csmith 2011-12-12T01:15:58Z abnormal syncytial trophoblast morphology MPheno.ontology MP:0011531 abnormal syncytiotrophoblast morphology MP:0011531 any structural anomaly of the multi-nucleated, terminally differentiated syncytial epithelial layer of the placental villi that forms the major nutrient transport surfaces within the labyrinth layer of the rodent placenta ISBN-10:0521851653 reduced amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine csmith 2011-12-13T09:51:24Z decreased urine MUP level MPheno.ontology MP:0011532 decreased urine major urinary protein level MP:0011532 reduced amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine https://orcid.org/0000-0003-3691-0324 increased amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine csmith 2011-12-13T09:52:51Z increased urine MUP level MPheno.ontology MP:0011533 increased urine major urinary protein level MP:0011533 increased amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine https://orcid.org/0000-0003-3691-0324 a kidney in which fairly uniform, diffusely and evenly situated foci of scarring of the interstitial tissue of the cortex (and sometimes scarring of glomeruli), and the associated slight degree of bulging of groups of dilated tubules, leads to the development of a minutely bosselated surface; such kidneys are seen in arteriolar nephrosclerosis or chronic glomerulonephritis csmith 2011-12-13T12:15:10Z sclerotic kidney MPheno.ontology MP:0011534 granular kidney MP:0011534 a kidney in which fairly uniform, diffusely and evenly situated foci of scarring of the interstitial tissue of the cortex (and sometimes scarring of glomeruli), and the associated slight degree of bulging of groups of dilated tubules, leads to the development of a minutely bosselated surface; such kidneys are seen in arteriolar nephrosclerosis or chronic glomerulonephritis https://orcid.org/0000-0002-6490-7723 increased frequency of urination episodes; urination at short frequent intervals occurs without an increase in daily volume of urinary output and may be caused by reduced bladder capacity or urinary tract infection csmith 2011-12-13T12:18:30Z decreased urine voiding intervals frequent urination increased number of micturition episodes increased urinary frequency pollachiuria pollacisuria pollakisuria pollakiuria MPheno.ontology MP:0011535 Clinicians sometimes mistakenly label increased urinary frequency as polyuria (increased urine output); Though rarely used, pollakisuria (or pollakiuria) is the correct term for increased frequency of urination. increased urination frequency MP:0011535 increased frequency of urination episodes; urination at short frequent intervals occurs without an increase in daily volume of urinary output and may be caused by reduced bladder capacity or urinary tract infection https://orcid.org/0000-0002-6490-7723 decreased frequency of urination episodes; urination at long intervals occurs without an decrease in daily volume of urinary output csmith 2011-12-13T12:18:30Z decreased number of micturition episodes increased urine voiding intervals infrequent urination reduced urinary frequency MPheno.ontology MP:0011536 decreased urination frequency MP:0011536 decreased frequency of urination episodes; urination at long intervals occurs without an decrease in daily volume of urinary output https://orcid.org/0000-0002-6490-7723 passage of an increased amount of any salt or ester of uric acid (urate) in the urine csmith 2011-12-16T09:54:36Z increased urine urate level MPheno.ontology MP:0011537 uraturia MP:0011537 passage of an increased amount of any salt or ester of uric acid (urate) in the urine https://orcid.org/0000-0002-6490-7723 any change in the urine amount of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs csmith 2011-12-16T04:03:14Z MPheno.ontology MP:0011538 abnormal urine hormone level MP:0011538 any change in the urine amount of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs https://orcid.org/0000-0002-6490-7723 any change in the urine amount of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule csmith 2011-12-16T04:03:29Z MPheno.ontology MP:0011539 abnormal urine aldosterone level MP:0011539 any change in the urine amount of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule https://orcid.org/0000-0002-6490-7723 an increased amount of aldosterone in the urine compared to the normal state csmith 2011-12-16T04:03:29Z MPheno.ontology MP:0011540 increased urine aldosterone level MP:0011540 an increased amount of aldosterone in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 a reduced amount of aldosterone in the urine compared to the normal state csmith 2011-12-16T04:03:29Z reduced urine aldosterone level MPheno.ontology MP:0011541 decreased urine aldosterone level MP:0011541 a reduced amount of aldosterone in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 any change in the urine amount of the polypeptide hormone secreted by the posterior lobe of the pituitary gland (neurohypophysis) that increases mean arterial pressure by promoting vasoconstriction and reduces excretion of urine by increasing the reabsorption of water by the kidney tubules csmith 2011-12-16T04:03:29Z abnormal urine ADH level abnormal urine AVP level abnormal urine arginine vasopressin level abnormal urine argipressin level abnormal urine vasopressin level MPheno.ontology MP:0011542 abnormal urine antidiuretic hormone level MP:0011542 any change in the urine amount of the polypeptide hormone secreted by the posterior lobe of the pituitary gland (neurohypophysis) that increases mean arterial pressure by promoting vasoconstriction and reduces excretion of urine by increasing the reabsorption of water by the kidney tubules https://orcid.org/0000-0002-6490-7723 an increased amount of antidiuretic hormone in the urine compared to the normal state csmith 2011-12-16T04:03:29Z increased urine ADH level increased urine AVP level increased urine arginine vasopressin level increased urine argipressin level increased urine vasopressin level MPheno.ontology MP:0011543 increased urine antidiuretic hormone level MP:0011543 an increased amount of antidiuretic hormone in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 a reduced amount of antidiuretic hormone in the urine compared to the normal state csmith 2011-12-16T04:03:29Z decreased urine ADH level decreased urine AVP level decreased urine arginine vasopressin level decreased urine argipressin level decreased urine vasopressin level reduced urine ADH level reduced urine AVP level reduced urine arginine vasopressin level reduced urine argipressin level reduced urine vasopressin level MPheno.ontology MP:0011544 decreased urine antidiuretic hormone level MP:0011544 a reduced amount of antidiuretic hormone in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 any change in the urine amount of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy csmith 2011-12-16T04:03:29Z abnormal urine corpus luteum hormone level abnormal urine luteohormone level abnormal urine pregnancy hormone level abnormal urine progestational hormone level MPheno.ontology MP:0011545 abnormal urine progesterone level MP:0011545 any change in the urine amount of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy https://orcid.org/0000-0002-6490-7723 an increased amount of progesterone in the urine compared to the normal state csmith 2011-12-16T04:03:29Z increased urine corpus luteum hormone level increased urine luteohormone level increased urine pregnancy hormone level increased urine progestational hormone level MPheno.ontology MP:0011546 increased urine progesterone level MP:0011546 an increased amount of progesterone in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 a reduced amount of progesterone in the urine compared to the normal state csmith 2011-12-16T04:03:29Z decreased urine corpus luteum hormone level decreased urine luteohormone level decreased urine pregnancy hormone level decreased urine progestational hormone level reduced urine corpus luteum hormone level reduced urine luteohormone level reduced urine pregnancy hormone level reduced urine progestational hormone level MPheno.ontology MP:0011547 decreased urine progesterone level MP:0011547 a reduced amount of progesterone in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 any change in the urine amount of the corticosteroid produced in the adrenal cortex that induces glycogen deposition and regulates sodium conservation and potassium secretion csmith 2011-12-16T04:03:29Z MPheno.ontology MP:0011548 abnormal urine corticosterone level MP:0011548 any change in the urine amount of the corticosteroid produced in the adrenal cortex that induces glycogen deposition and regulates sodium conservation and potassium secretion https://orcid.org/0000-0002-6490-7723 an increased amount of corticosterone in the urine compared to the normal state csmith 2011-12-16T04:03:29Z MPheno.ontology MP:0011549 increased urine corticosterone level MP:0011549 an increased amount of corticosterone in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 a reduced amount of corticosterone in the urine compared to the normal state csmith 2011-12-16T04:03:29Z MPheno.ontology MP:0011550 decreased urine corticosterone level MP:0011550 a reduced amount of corticosterone in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 an irregular and random patchwork of two or more colors in the eye csmith 2011-12-16T04:10:18Z MPheno.ontology MP:0011551 variegated eye pigmentation pattern MP:0011551 an irregular and random patchwork of two or more colors in the eye MGI:llw2 any change in the urine amount of the steroid hormone secreted by the adrenal cortex, related to corticosterone and involved in regulating water and electrolyte balance csmith 2011-12-20T04:01:30Z abnormal urine 11-deoxycorticosterone level abnormal urine 21-hydroxyprogesterone level MPheno.ontology MP:0011552 abnormal urine deoxycorticosterone level MP:0011552 any change in the urine amount of the steroid hormone secreted by the adrenal cortex, related to corticosterone and involved in regulating water and electrolyte balance https://orcid.org/0000-0002-6490-7723 an increased amount of deoxycorticosterone in the urine compared to the normal state csmith 2011-12-20T04:01:30Z increased urine 11-deoxycorticosterone level increased urine 21-hydroxyprogesterone level MPheno.ontology MP:0011553 increased urine deoxycorticosterone level MP:0011553 an increased amount of deoxycorticosterone in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 a reduced amount of deoxycorticosterone in the urine compared to the normal state csmith 2011-12-20T04:01:30Z decreased urine 11-deoxycorticosterone level decreased urine 21-hydroxyprogesterone level reduced urine 11-deoxycorticosterone level reduced urine 21-hydroxyprogesterone level MPheno.ontology MP:0011554 decreased urine deoxycorticosterone level MP:0011554 a reduced amount of deoxycorticosterone in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 greater than the normal amount of any globulin (or any fragment of a globulin) of low molecular weight in the urine csmith 2011-12-20T04:05:15Z microglobulinuria MPheno.ontology MP:0011555 increased urine microglobulin level MP:0011555 greater than the normal amount of any globulin (or any fragment of a globulin) of low molecular weight in the urine https://orcid.org/0000-0002-6490-7723 greater than the normal amount of beta2-microglobulin in the urine; may indicate renal tubule disease, drug-induced renal toxicity, heavy metal-induced renal disease, lymphomas, leukemia, or myeloma csmith 2011-12-20T04:05:29Z MPheno.ontology MP:0011556 increased urine beta2-microglobulin level MP:0011556 greater than the normal amount of beta2-microglobulin in the urine; may indicate renal tubule disease, drug-induced renal toxicity, heavy metal-induced renal disease, lymphomas, leukemia, or myeloma https://orcid.org/0000-0002-6490-7723 increased rate or amount of new growth of new, abnormal blood vessels that originate in the choroid through a break in the Bruch membrane into the sub-retinal pigment epithelium or subretinal space and may result in visual loss as a result of chemical or mechanical manipulation (e.g. laser-induced trauma) csmith 2011-12-20T04:12:10Z decreased resistance to induced choroidal neovascularization MPheno.ontology MP:0011557 increased susceptibility to induced choroid neovascularization MP:0011557 increased rate or amount of new growth of new, abnormal blood vessels that originate in the choroid through a break in the Bruch membrane into the sub-retinal pigment epithelium or subretinal space and may result in visual loss as a result of chemical or mechanical manipulation (e.g. laser-induced trauma) https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-0431-8641 any change in the amount of insulin in the urine csmith 2011-12-20T04:15:31Z MPheno.ontology MP:0011558 abnormal urine insulin level MP:0011558 any change in the amount of insulin in the urine https://orcid.org/0000-0002-6490-7723 a greater amount of insulin in the urine compared to the normal state csmith 2011-12-20T04:15:31Z MPheno.ontology MP:0011559 increased urine insulin level MP:0011559 a greater amount of insulin in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 a reduced amount of insulin in the urine compared to the normal state csmith 2011-12-20T04:15:31Z reduced urine insulin level MPheno.ontology MP:0011560 decreased urine insulin level MP:0011560 a reduced amount of insulin in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 presence of lipid deposits and/or lipid-laden foam cells in the renal glomerular tufts csmith 2011-12-20T04:19:35Z kidney glomerular lipidosis kidney glomerulus lipidosis renal glomerular lipidosis MPheno.ontology MP:0011561 renal glomerulus lipidosis MP:0011561 presence of lipid deposits and/or lipid-laden foam cells in the renal glomerular tufts https://orcid.org/0000-0002-6490-7723 any change in the urinary amount of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation csmith 2011-12-20T04:21:52Z MPheno.ontology MP:0011562 abnormal urine prostaglandin level MP:0011562 any change in the urinary amount of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation https://orcid.org/0000-0002-6490-7723 a greater amount of any prostaglandin in the urine compared to the normal state csmith 2011-12-20T04:21:52Z hyperprostaglandinuria MPheno.ontology MP:0011563 increased urine prostaglandin level MP:0011563 a greater amount of any prostaglandin in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 a reduced amount of any prostaglandin in the urine compared to the normal state csmith 2011-12-20T04:21:52Z reduced urine prostaglandin level MPheno.ontology MP:0011564 decreased urine prostaglandin level MP:0011564 a reduced amount of any prostaglandin in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the kidney papilla, typically resulting in decreased size csmith 2011-12-20T04:25:40Z hypoplastic kidney papilla renal papillary hypoplasia MPheno.ontology MP:0011565 kidney papillary hypoplasia MP:0011565 decrease in the number of normal cells in normal arrangement in the kidney papilla, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 deviation from the normal levels, or accumulation of the proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes csmith 2012-01-12T01:39:01Z MPheno.ontology MP:0011566 abnormal complement protein level MP:0011566 deviation from the normal levels, or accumulation of the proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes https://orcid.org/0000-0003-3691-0324 distortion of the renal glomerular architecture usually accompanied by increased mesangial cell proliferation and following crowding of the proliferated cells towards the axis of the capillary loops and peripheral recanalization, giving the glomerular tuft a lobular or hypersegmented appearance csmith 2012-01-12T01:43:44Z accentuated glomerular lobulation hyperlobular glomeruli hypersegmented glomeruli increased renal glomerular lobularity lobulated glomeruli lobulation of the glomerular tuft MPheno.ontology MP:0011567 increased renal glomerulus lobularity MP:0011567 distortion of the renal glomerular architecture usually accompanied by increased mesangial cell proliferation and following crowding of the proliferated cells towards the axis of the capillary loops and peripheral recanalization, giving the glomerular tuft a lobular or hypersegmented appearance https://orcid.org/0000-0002-6490-7723 visually detectable dilution of pigment present on the foot surface csmith 2012-01-12T01:47:07Z MPheno.ontology MP:0011568 decreased foot pigmentation MP:0011568 visually detectable dilution of pigment present on the foot surface https://orcid.org/0000-0003-3691-0324 any structural anomaly of the unpaired vein which in humans arises from the right ascending lumbar vein or the vena cava, enters the thorax through the aortic orifice in the diaphragm, and terminates in the superior vena cava; unlike humans, mice have a single and left-sided azygos vein that develops from the paired embryonic cardinal venous system and drains most of the right and left thoracic walls into the left anterior vena cava csmith 2012-01-12T02:14:19Z abnormal vena azygos morphology MPheno.ontology MP:0011569 abnormal azygos vein morphology MP:0011569 any structural anomaly of the unpaired vein which in humans arises from the right ascending lumbar vein or the vena cava, enters the thorax through the aortic orifice in the diaphragm, and terminates in the superior vena cava; unlike humans, mice have a single and left-sided azygos vein that develops from the paired embryonic cardinal venous system and drains most of the right and left thoracic walls into the left anterior vena cava https://orcid.org/0000-0002-6490-7723 failure of the normal relaxation of the lower esophageal sphincter associated with the uncoordinated contractions of the thoracic esophagus, resulting in functional obstruction csmith 2012-01-18T10:35:52Z achalasia of the cardia cardiospasm MPheno.ontology MP:0011570 esophageal achalasia MP:0011570 failure of the normal relaxation of the lower esophageal sphincter associated with the uncoordinated contractions of the thoracic esophagus, resulting in functional obstruction ISBN:0-683-40008-8 increased size of the semicircular fold of endocardium located on the right atrium at the point of attachment of the inferior vena cava csmith 2012-01-24T02:49:24Z Fyler:2852 enlarged Eustachian valve enlarged sylvian valve increased Eustachian valve size increased inferior vena cava valve size increased sylvian valve size MPheno.ontology MP:0011571 enlarged inferior vena cava valve MP:0011571 increased size of the semicircular fold of endocardium located on the right atrium at the point of attachment of the inferior vena cava ISBN:0-683-40008-8 any structural anomaly of the portion of the left ventricular outflow tract delineated by the sinotubular ridge superiorly and the bases of the valve leaflets inferiorly; it comprises the aortic sinuses, the aortic valve leaflets, the commissures, and the interleaflet triangles csmith 2012-01-25T10:18:56Z FMA:3740 abnormal aortic bulb morphology abnormal aortic root morphology abnormal bulb of aorta morphology abnormal bulb of ascending aorta morphology abnormal root of aorta morphology abnormal supraaortic valve area morphology MPheno.ontology MP:0011572 abnormal aorta bulb morphology MP:0011572 any structural anomaly of the portion of the left ventricular outflow tract delineated by the sinotubular ridge superiorly and the bases of the valve leaflets inferiorly; it comprises the aortic sinuses, the aortic valve leaflets, the commissures, and the interleaflet triangles PMID:10722531 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the point in the ascending aorta where the aortic sinuses end and the aorta becomes a tubular structure csmith 2012-01-25T10:24:17Z abnormal sinotubular ridge morphology MPheno.ontology MP:0011573 abnormal sinotubular junction morphology MP:0011573 any structural anomaly of the point in the ascending aorta where the aortic sinuses end and the aorta becomes a tubular structure https://orcid.org/0000-0003-3691-0324 the luminal space of the sinotubular junction is increased in diameter or area csmith 2012-01-25T10:27:10Z dilated sinotubular junctions dilated sinotubular ridge dilated sinotubular ridges sinotubular junction dilation sinotubular ridge dilation MPheno.ontology MP:0011574 dilated sinotubular junction MP:0011574 the luminal space of the sinotubular junction is increased in diameter or area https://orcid.org/0000-0003-3691-0324 the luminal space of the aorta bulb is increased in volume or area, usually with an increase of contained fluid csmith 2012-01-25T11:38:04Z aorta bulb dilation aortic bulb dilation aortic root dilation dilated aortic bulb dilated aortic root dilated bulb of aorta dilated root of aorta dilation of supraaortic valve area MPheno.ontology MP:0011575 dilated aorta bulb MP:0011575 the luminal space of the aorta bulb is increased in volume or area, usually with an increase of contained fluid https://orcid.org/0000-0003-3691-0324 absence of the first (topmost, C1) cervical vertebra which supports the globe of the head csmith 2012-01-25T03:01:53Z absent C1 vertebra MPheno.ontology MP:0011576 absent cervical atlas MP:0011576 absence of the first (topmost, C1) cervical vertebra which supports the globe of the head https://orcid.org/0000-0002-6490-7723 anomaly in the ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate csmith 2012-01-25T03:27:41Z abnormal clearing factor lipase activity abnormal diacylglycerol hydrolase activity abnormal diacylglycerol lipase activity abnormal diglyceride lipase activity abnormal lipemia-clearing factor abnormal postheparin esterase activity abnormal postheparin lipase activity abnormal triacylglycero-protein acylhydrolase activity MPheno.ontology MP:0011577 abnormal lipoprotein lipase activity MP:0011577 anomaly in the ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate GO:0004806 greater ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate csmith 2012-01-25T03:27:41Z increased clearing factor lipase activity increased diacylglycerol hydrolase activity increased diacylglycerol lipase activity increased diglyceride lipase activity increased lipemia-clearing factor increased postheparin esterase activity increased postheparin lipase activity increased triacylglycero-protein acylhydrolase activity MPheno.ontology MP:0011578 increased lipoprotein lipase activity MP:0011578 greater ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate GO:0004465 reduced ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate csmith 2012-01-25T03:27:41Z decreased clearing factor lipase activity decreased diacylglycerol hydrolase activity decreased diacylglycerol lipase activity decreased diglyceride lipase activity decreased lipemia-clearing factor decreased postheparin esterase activity decreased postheparin lipase activity decreased triacylglycero-protein acylhydrolase activity MPheno.ontology MP:0011579 decreased lipoprotein lipase activity MP:0011579 reduced ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate GO:0004465 anomaly in the ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion csmith 2012-01-25T03:27:41Z abnormal PPL abnormal butyrinase activity abnormal cacordase activity abnormal capalase L abnormal glycerol ester hydrolase activity abnormal glycerol-ester hydrolase activity abnormal heparin releasable hepatic lipase abnormal hepatic lipase abnormal hepatic monoacylglycerol acyltransferase abnormal lipazin abnormal liver lipase abnormal post-heparin plasma protamine-resistant lipase abnormal salt-resistant post-heparin lipase abnormal triacetinase activity abnormal triacylglycerol acylhydrolase activity abnormal triacylglycerol ester hydrolase activity abnormal triacylglycerol lipase activity abnormal tributyrase activity abnormal tributyrin esterase activity abnormal tributyrinase activity abnormal triglyceridase activity abnormal triglyceride hydrolase activity abnormal triolein hydrolase activity abnormal tween hydrolase activity abnormal tween-hydrolyzing esterase activity abnormal tweenase activity abnormal tweenesterase activity MPheno.ontology MP:0011580 abnormal triglyceride lipase activity MP:0011580 anomaly in the ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion GO:0004806 greater ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion csmith 2012-01-25T03:27:41Z increased PPL increased butyrinase activity increased cacordase activity increased capalase L increased glycerol ester hydrolase activity increased glycerol-ester hydrolase activity increased heparin releasable hepatic lipase increased hepatic lipase increased hepatic monoacylglycerol acyltransferase increased lipazin increased liver lipase increased post-heparin plasma protamine-resistant lipase increased salt-resistant post-heparin lipase increased triacetinase activity increased triacylglycerol acylhydrolase activity increased triacylglycerol ester hydrolase activity increased triacylglycerol lipase activity increased tributyrase activity increased tributyrin esterase activity increased tributyrinase activity increased triglyceridase activity increased triglyceride hydrolase activity increased triolein hydrolase activity increased tween hydrolase activity increased tween-hydrolyzing esterase activity increased tweenase activity increased tweenesterase activity MPheno.ontology MP:0011581 increased triglyceride lipase activity MP:0011581 greater ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion GO:0004806 reduced ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion csmith 2012-01-25T03:27:41Z decreased PPL decreased butyrinase activity decreased cacordase activity decreased capalase L decreased glycerol ester hydrolase activity decreased glycerol-ester hydrolase activity decreased heparin releasable hepatic lipase decreased hepatic lipase decreased hepatic monoacylglycerol acyltransferase decreased lipazin decreased liver lipase decreased post-heparin plasma protamine-resistant lipase decreased salt-resistant post-heparin lipase decreased triacetinase activity decreased triacylglycerol acylhydrolase activity decreased triacylglycerol ester hydrolase activity decreased triacylglycerol lipase activity decreased tributyrase activity decreased tributyrin esterase activity decreased tributyrinase activity decreased triglyceridase activity decreased triglyceride hydrolase activity decreased triolein hydrolase activity decreased tween hydrolase activity decreased tween-hydrolyzing esterase activity decreased tweenase activity decreased tweenesterase activity MPheno.ontology MP:0011582 decreased triglyceride lipase activity MP:0011582 reduced ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion GO:0004806 anomaly in the ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum csmith 2012-01-25T03:50:01Z abnormal alkaline phenyl phosphatase activity abnormal alkaline phosphohydrolase activity abnormal alkaline phosphomonoesterase activity abnormal glycerophosphatase activity abnormal orthophosphoric-monoester phosphohydrolase (alkaline optimum) abnormal phosphate-monoester phosphohydrolase (alkaline optimum) abnormal phosphomonoesterase activity MPheno.ontology MP:0011583 abnormal alkaline phosphatase activity MP:0011583 anomaly in the ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum GO:0004035 greater ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum csmith 2012-01-25T03:51:35Z increased alkaline phenyl phosphatase activity increased alkaline phosphohydrolase activity increased alkaline phosphomonoesterase activity increased glycerophosphatase activity increased orthophosphoric-monoester phosphohydrolase (alkaline optimum) increased phosphate-monoester phosphohydrolase (alkaline optimum) increased phosphomonoesterase activity MPheno.ontology MP:0011584 increased alkaline phosphatase activity MP:0011584 greater ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum GO:0004035 reduced ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum csmith 2012-01-25T03:51:35Z decreased alkaline phenyl phosphatase activity decreased alkaline phosphohydrolase activity decreased alkaline phosphomonoesterase activity decreased glycerophosphatase activity decreased orthophosphoric-monoester phosphohydrolase (alkaline optimum) decreased phosphate-monoester phosphohydrolase (alkaline optimum) decreased phosphomonoesterase activity MPheno.ontology MP:0011585 decreased alkaline phosphatase activity MP:0011585 reduced ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum GO:0004035 anomaly in the ability to catalyze the reaction: carbamoyl phosphate + L-ornithine = phosphate + L-citrulline csmith 2012-01-25T04:00:56Z abnormal L-ornithine carbamoyltransferase activity abnormal L-ornithine carbamyltransferase activity abnormal L-ornithine transcarbamylase activity abnormal OTC activity abnormal OTCase activity abnormal carbamoyl-phosphate:L-ornithine carbamoyltransferase activity abnormal carbamylphosphate-ornithine transcarbamylase activity abnormal citrulline phosphorylase activity abnormal ornithine carbamyltransferase activity abnormal ornithine transcarbamylase activity MPheno.ontology MP:0011586 abnormal ornithine carbamoyltransferase activity MP:0011586 anomaly in the ability to catalyze the reaction: carbamoyl phosphate + L-ornithine = phosphate + L-citrulline GO:0004585 greater ability to catalyze the reaction: carbamoyl phosphate + L-ornithine = phosphate + L-citrulline csmith 2012-01-25T04:00:56Z increased L-ornithine carbamoyltransferase activity increased L-ornithine carbamyltransferase activity increased L-ornithine transcarbamylase activity increased OTC activity increased OTCase activity increased carbamoyl-phosphate:L-ornithine carbamoyltransferase activity increased carbamylphosphate-ornithine transcarbamylase activity increased citrulline phosphorylase activity increased ornithine carbamyltransferase activity increased ornithine transcarbamylase activity MPheno.ontology MP:0011587 increased ornithine carbamoyltransferase activity MP:0011587 greater ability to catalyze the reaction: carbamoyl phosphate + L-ornithine = phosphate + L-citrulline GO:0004585 reduced ability to catalyze the reaction: carbamoyl phosphate + L-ornithine = phosphate + L-citrulline csmith 2012-01-25T04:00:56Z decreased L-ornithine carbamoyltransferase activity decreased L-ornithine carbamyltransferase activity decreased L-ornithine transcarbamylase activity decreased OTC activity decreased OTCase activity decreased carbamoyl-phosphate:L-ornithine carbamoyltransferase activity decreased carbamylphosphate-ornithine transcarbamylase activity decreased citrulline phosphorylase activity decreased ornithine carbamyltransferase activity decreased ornithine transcarbamylase activity MPheno.ontology MP:0011588 decreased ornithine carbamoyltransferase activity MP:0011588 reduced ability to catalyze the reaction: carbamoyl phosphate + L-ornithine = phosphate + L-citrulline GO:0004585 anomaly in the ability to catalyze the reactions: diacylglycerol + H2O = monoacylglycerol + a carboxylate; triacylglycerol + H2O = diacylglycerol + a carboxylate; and monoacylglycerol + H2O = glycerol + a carboxylate csmith 2012-01-26T01:31:29Z abnormal HSL abnormal diacylglycerol acylhydrolase activity MPheno.ontology MP:0011589 abnormal hormone-sensitive lipase activity MP:0011589 anomaly in the ability to catalyze the reactions: diacylglycerol + H2O = monoacylglycerol + a carboxylate; triacylglycerol + H2O = diacylglycerol + a carboxylate; and monoacylglycerol + H2O = glycerol + a carboxylate GO:0033878 greater ability to catalyze the reactions: diacylglycerol + H2O = monoacylglycerol + a carboxylate; triacylglycerol + H2O = diacylglycerol + a carboxylate; and monoacylglycerol + H2O = glycerol + a carboxylate csmith 2012-01-26T01:31:29Z increased HSL increased diacylglycerol acylhydrolase activity MPheno.ontology MP:0011590 increased hormone-sensitive lipase activity MP:0011590 greater ability to catalyze the reactions: diacylglycerol + H2O = monoacylglycerol + a carboxylate; triacylglycerol + H2O = diacylglycerol + a carboxylate; and monoacylglycerol + H2O = glycerol + a carboxylate GO:0033878 reduced ability to catalyze the reactions: diacylglycerol + H2O = monoacylglycerol + a carboxylate; triacylglycerol + H2O = diacylglycerol + a carboxylate; and monoacylglycerol + H2O = glycerol + a carboxylate csmith 2012-01-26T01:31:29Z decreased HSL decreased diacylglycerol acylhydrolase activity MPheno.ontology MP:0011591 decreased hormone-sensitive lipase activity MP:0011591 reduced ability to catalyze the reactions: diacylglycerol + H2O = monoacylglycerol + a carboxylate; triacylglycerol + H2O = diacylglycerol + a carboxylate; and monoacylglycerol + H2O = glycerol + a carboxylate GO:0033878 anomaly in the ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O csmith 2012-01-26T01:31:29Z abnormal CAT abnormal bacterial catalase-peroxidase activity abnormal caperase activity abnormal catalase reaction abnormal catalase-peroxidase activity abnormal equilase activity abnormal haem catalase activity abnormal heme catalase activity abnormal hydrogen-peroxide:hydrogen-peroxide oxidoreductase activity abnormal manganese catalase activity abnormal optidase activity MPheno.ontology MP:0011592 abnormal catalase activity MP:0011592 anomaly in the ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O GO:0004096 greater ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O csmith 2012-01-26T01:31:29Z increased CAT increased bacterial catalase-peroxidase activity increased caperase activity increased catalase reaction increased catalase-peroxidase activity increased equilase activity increased haem catalase activity increased heme catalase activity increased hydrogen-peroxide:hydrogen-peroxide oxidoreductase activity increased manganese catalase activity increased optidase activity MPheno.ontology MP:0011593 increased catalase activity MP:0011593 greater ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O GO:0004096 reduced ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O csmith 2012-01-26T01:31:29Z decreased CAT decreased bacterial catalase-peroxidase activity decreased caperase activity decreased catalase reaction decreased catalase-peroxidase activity decreased equilase activity decreased haem catalase activity decreased heme catalase activity decreased hydrogen-peroxide:hydrogen-peroxide oxidoreductase activity decreased manganese catalase activity decreased optidase activity MPheno.ontology MP:0011594 decreased catalase activity MP:0011594 reduced ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O GO:0004096 anomaly in the ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate csmith 2012-01-26T01:31:29Z abnormal PNPase activity abnormal PUNPI abnormal PUNPII abnormal inosine phosphorylase activity abnormal inosine-guanosine phosphorylase activity abnormal purine deoxynucleoside phosphorylase activity abnormal purine deoxyribonucleoside phosphorylase activity abnormal purine nucleoside phosphorylase activity abnormal purine ribonucleoside phosphorylase activity abnormal purine-nucleoside:phosphate ribosyltransferase activity MPheno.ontology MP:0011595 abnormal purine-nucleoside phosphorylase activity MP:0011595 anomaly in the ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate GO:0004731 greater ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate csmith 2012-01-26T01:31:29Z increased PNPase activity increased PUNPI increased PUNPII increased inosine phosphorylase activity increased inosine-guanosine phosphorylase activity increased purine deoxynucleoside phosphorylase activity increased purine deoxyribonucleoside phosphorylase activity increased purine nucleoside phosphorylase activity increased purine ribonucleoside phosphorylase activity increased purine-nucleoside:phosphate ribosyltransferase activity MPheno.ontology MP:0011596 increased purine-nucleoside phosphorylase activity MP:0011596 greater ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate GO:0004731 reduced ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate csmith 2012-01-26T01:31:29Z decreased PNPase activity decreased PUNPI decreased PUNPII decreased inosine phosphorylase activity decreased inosine-guanosine phosphorylase activity decreased purine deoxynucleoside phosphorylase activity decreased purine deoxyribonucleoside phosphorylase activity decreased purine nucleoside phosphorylase activity decreased purine ribonucleoside phosphorylase activity decreased purine-nucleoside:phosphate ribosyltransferase activity MPheno.ontology MP:0011597 decreased purine-nucleoside phosphorylase activity MP:0011597 reduced ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate GO:0004607 anomaly in the ability to catalyze the reaction: phosphatidylcholine + a sterol = a sterol ester + 1-acylglycerophosphocholine csmith 2012-01-26T01:31:29Z abnormal LCAT (lecithin-cholesterol acyltransferase) abnormal LCAT activity abnormal lecithin--cholesterol acyltransferase activity abnormal lecithin-cholesterol acyltransferase activity abnormal lecithin:cholesterol acyltransferase activity abnormal phosphatidylcholine:sterol O-acyltransferase activity abnormal phospholipid--cholesterol acyltransferase activity MPheno.ontology MP:0011598 abnormal phosphatidylcholine-sterol O-acyltransferase activity MP:0011598 anomaly in the ability to catalyze the reaction: phosphatidylcholine + a sterol = a sterol ester + 1-acylglycerophosphocholine GO:0004731 greater ability to catalyze the reaction: phosphatidylcholine + a sterol = a sterol ester + 1-acylglycerophosphocholine csmith 2012-01-26T01:31:29Z increased LCAT (lecithin-cholesterol acyltransferase) increased LCAT activity increased lecithin--cholesterol acyltransferase activity increased lecithin-cholesterol acyltransferase activity increased lecithin:cholesterol acyltransferase activity increased phosphatidylcholine:sterol O-acyltransferase activity increased phospholipid--cholesterol acyltransferase activity MPheno.ontology MP:0011599 increased phosphatidylcholine-sterol O-acyltransferase activity MP:0011599 greater ability to catalyze the reaction: phosphatidylcholine + a sterol = a sterol ester + 1-acylglycerophosphocholine GO:0004731 reduced ability to catalyze the reaction: phosphatidylcholine + a sterol = a sterol ester + 1-acylglycerophosphocholine csmith 2012-01-26T01:31:29Z decreased LCAT (lecithin-cholesterol acyltransferase) decreased LCAT activity decreased lecithin--cholesterol acyltransferase activity decreased lecithin-cholesterol acyltransferase activity decreased lecithin:cholesterol acyltransferase activity decreased phosphatidylcholine:sterol O-acyltransferase activity decreased phospholipid--cholesterol acyltransferase activity MPheno.ontology MP:0011600 decreased phosphatidylcholine-sterol O-acyltransferase activity MP:0011600 reduced ability to catalyze the reaction: phosphatidylcholine + a sterol = a sterol ester + 1-acylglycerophosphocholine GO:0004731 anomaly in the ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O csmith 2012-01-26T01:31:29Z abnormal GSH peroxidase activity abnormal glutathione:hydrogen-peroxide oxidoreductase activity abnormal non-selenium glutathione peroxidase activity abnormal reduced glutathione peroxidase activity abnormal selenium-glutathione peroxidase activity MPheno.ontology MP:0011601 abnormal glutathione peroxidase activity MP:0011601 anomaly in the ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O GO:0004602 greater ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O csmith 2012-01-26T01:31:29Z increased GSH peroxidase activity increased glutathione:hydrogen-peroxide oxidoreductase activity increased non-selenium glutathione peroxidase activity increased reduced glutathione peroxidase activity increased selenium-glutathione peroxidase activity MPheno.ontology MP:0011602 increased glutathione peroxidase activity MP:0011602 greater ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O GO:0004602 reduced ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O csmith 2012-01-26T01:31:29Z decreased GSH peroxidase activity decreased glutathione:hydrogen-peroxide oxidoreductase activity decreased non-selenium glutathione peroxidase activity decreased reduced glutathione peroxidase activity decreased selenium-glutathione peroxidase activity reduced GSH peroxidase activity MPheno.ontology MP:0011603 decreased glutathione peroxidase activity MP:0011603 reduced ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O GO:0004602 anomaly in the ability to catalyze the reaction: ATP + D-glucose = ADP + D-glucose-6-phosphate csmith 2012-01-26T01:31:29Z abnormal ATP:D-glucose 6-phosphotransferase activity abnormal glucokinase (phosphorylating) abnormal glucose kinase activity MPheno.ontology MP:0011604 abnormal glucokinase activity MP:0011604 anomaly in the ability to catalyze the reaction: ATP + D-glucose = ADP + D-glucose-6-phosphate GO:0004340 greater ability to catalyze the reaction: ATP + D-glucose = ADP + D-glucose-6-phosphate csmith 2012-01-26T01:31:29Z increased ATP:D-glucose 6-phosphotransferase activity increased glucokinase (phosphorylating) increased glucose kinase activity MPheno.ontology MP:0011605 increased glucokinase activity MP:0011605 greater ability to catalyze the reaction: ATP + D-glucose = ADP + D-glucose-6-phosphate GO:0004340 reduced ability to catalyze the reaction: ATP + D-glucose = ADP + D-glucose-6-phosphate csmith 2012-01-26T01:31:29Z decreased ATP:D-glucose 6-phosphotransferase activity decreased glucokinase (phosphorylating) decreased glucose kinase activity MPheno.ontology MP:0011606 decreased glucokinase activity MP:0011606 reduced ability to catalyze the reaction: ATP + D-glucose = ADP + D-glucose-6-phosphate GO:0004340 anomaly in the ability to catalyze the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD+ = 3-phospho-D-glyceroyl phosphate + NADH + H+ csmith 2012-01-26T01:31:29Z abnormal 3-phosphoglyceraldehyde dehydrogenase activity abnormal D-glyceraldehyde-3-phosphate:NAD+ oxidoreductase (phosphorylating) abnormal GAPDH activity abnormal NAD-dependent glyceraldehyde phosphate dehydrogenase activity abnormal NAD-dependent glyceraldehyde-3-phosphate dehydrogenase activity abnormal NADH-glyceraldehyde phosphate dehydrogenase activity abnormal dehydrogenase, glyceraldehyde phosphate abnormal glyceraldehyde phosphate dehydrogenase (NAD) abnormal glyceraldehyde-3-P-dehydrogenase activity abnormal phosphoglyceraldehyde dehydrogenase activity abnormal triosephosphate dehydrogenase activity MPheno.ontology MP:0011607 abnormal glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity MP:0011607 anomaly in the ability to catalyze the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD+ = 3-phospho-D-glyceroyl phosphate + NADH + H+ GO:0004365 greater ability to catalyze the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD+ = 3-phospho-D-glyceroyl phosphate + NADH + H+ csmith 2012-01-26T01:31:29Z increased 3-phosphoglyceraldehyde dehydrogenase activity increased D-glyceraldehyde-3-phosphate:NAD+ oxidoreductase (phosphorylating) increased GAPDH activity increased NAD-dependent glyceraldehyde phosphate dehydrogenase activity increased NAD-dependent glyceraldehyde-3-phosphate dehydrogenase activity increased NADH-glyceraldehyde phosphate dehydrogenase activity increased dehydrogenase, glyceraldehyde phosphate increased glyceraldehyde phosphate dehydrogenase (NAD) increased glyceraldehyde-3-P-dehydrogenase activity increased phosphoglyceraldehyde dehydrogenase activity increased triosephosphate dehydrogenase activity MPheno.ontology MP:0011608 increased glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity MP:0011608 greater ability to catalyze the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD+ = 3-phospho-D-glyceroyl phosphate + NADH + H+ GO:0004365 reduced ability to catalyze the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD+ = 3-phospho-D-glyceroyl phosphate + NADH + H+ csmith 2012-01-26T01:31:29Z decreased 3-phosphoglyceraldehyde dehydrogenase activity decreased D-glyceraldehyde-3-phosphate:NAD+ oxidoreductase (phosphorylating) decreased GAPDH activity decreased NAD-dependent glyceraldehyde phosphate dehydrogenase activity decreased NAD-dependent glyceraldehyde-3-phosphate dehydrogenase activity decreased NADH-glyceraldehyde phosphate dehydrogenase activity decreased dehydrogenase, glyceraldehyde phosphate decreased glyceraldehyde phosphate dehydrogenase (NAD) decreased glyceraldehyde-3-P-dehydrogenase activity decreased phosphoglyceraldehyde dehydrogenase activity decreased triosephosphate dehydrogenase activity MPheno.ontology MP:0011609 decreased glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity MP:0011609 reduced ability to catalyze the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD+ = 3-phospho-D-glyceroyl phosphate + NADH + H+ GO:0004365 change in the timing or the number of primordial germ cells undergoing programmed cell death csmith 2012-02-28T12:13:11Z abnormal PGC apoptosis MPheno.ontology MP:0011610 abnormal primordial germ cell apoptosis MP:0011610 change in the timing or the number of primordial germ cells undergoing programmed cell death https://orcid.org/0000-0003-4606-0597 any anomaly in the blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland; in addition to stimulating appetite and growth, ghrelin also plays various roles in energy homeostasis, neuropathy, and in the cardiovascular and immune systems csmith 2012-02-28T12:46:51Z abnormal plasma ghrelin level abnormal serum ghrelin level MPheno.ontology MP:0011611 abnormal circulating ghrelin level MP:0011611 any anomaly in the blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland; in addition to stimulating appetite and growth, ghrelin also plays various roles in energy homeostasis, neuropathy, and in the cardiovascular and immune systems https://orcid.org/0000-0002-6490-7723 greater than the normal blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that normally stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland csmith 2012-02-28T12:47:30Z hyperghrelinaemia hyperghrelinemia increased plasma ghrelin level increased serum ghrelin level MPheno.ontology MP:0011612 increased circulating ghrelin level MP:0011612 greater than the normal blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that normally stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland https://orcid.org/0000-0002-6490-7723 less than the normal blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that normally stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland csmith 2012-02-28T12:47:30Z hypoghrelinaemia hypoghrelinemia decreased plasma ghrelin level decreased serum ghrelin level reduced plasma ghrelin level reduced serum ghrelin level MPheno.ontology MP:0011613 decreased circulating ghrelin level MP:0011613 less than the normal blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that normally stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland https://orcid.org/0000-0002-6490-7723 later than normal occurrence of the normal signs of aging csmith 2012-02-28T01:41:31Z ageing resistance aging resistance resistance to ageing resistance to aging slow ageing MPheno.ontology MP:0011614 slow aging MP:0011614 later than normal occurrence of the normal signs of aging https://orcid.org/0000-0003-3691-0324 a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate csmith 2012-02-28T03:20:10Z SMCP submucosal cleft palate MPheno.ontology MP:0011615 submucous cleft palate MP:0011615 a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate PMID:19779505 anomaly in the process of a simple form of learning whereby the repeated presence of a stimulus leads to a change in the probability or strength of the response to that stimulus; there is no association of one type of stimulus with another, rather it is a generalized response to the environment csmith 2012-04-12T10:53:06Z abnormal unconditional response MPheno.ontology MP:0011616 abnormal nonassociative learning MP:0011616 anomaly in the process of a simple form of learning whereby the repeated presence of a stimulus leads to a change in the probability or strength of the response to that stimulus; there is no association of one type of stimulus with another, rather it is a generalized response to the environment GO:0046958 anomaly in the process in which there is a progressive decline of behavioral response probability with a repetitive stimulus csmith 2012-04-12T10:53:44Z MPheno.ontology MP:0011617 abnormal habituation MP:0011617 anomaly in the process in which there is a progressive decline of behavioral response probability with a repetitive stimulus GO:0046959 PMID:16774787 anomaly in the process in which a progressive amplification of a behavioral response follows repeated administration of a stimulus csmith 2012-04-12T10:53:57Z MPheno.ontology MP:0011618 abnormal sensitization MP:0011618 anomaly in the process in which a progressive amplification of a behavioral response follows repeated administration of a stimulus GO:0046960 anomaly in the process in which there is a temporary recovery of response to a stimulus when a novel stimulus is added csmith 2012-04-12T11:07:27Z MPheno.ontology MP:0011619 abnormal dishabituation MP:0011619 anomaly in the process in which there is a temporary recovery of response to a stimulus when a novel stimulus is added GO:0097270 anomaly in the process in which there is a progressive decline of behavioral response probability with an exposure to a new environment csmith 2012-04-12T11:13:52Z MPheno.ontology MP:0011620 abnormal habituation to a new environment MP:0011620 anomaly in the process in which there is a progressive decline of behavioral response probability with an exposure to a new environment https://orcid.org/0000-0003-3691-0324 anomaly in the process in which there is a progressive decline of behavioral response probability with an exposure to a novel object csmith 2012-04-12T11:13:52Z MPheno.ontology MP:0011621 abnormal habituation to a novel object MP:0011621 anomaly in the process in which there is a progressive decline of behavioral response probability with an exposure to a novel object https://orcid.org/0000-0003-3691-0324 anomaly in the process in which there is a progressive decline of behavioral response probability with an exposure to a novel odor csmith 2012-04-12T11:13:52Z abnormal habituation to a novel odour MPheno.ontology MP:0011622 abnormal habituation to a novel odor MP:0011622 anomaly in the process in which there is a progressive decline of behavioral response probability with an exposure to a novel odor https://orcid.org/0000-0003-3691-0324 anomaly in the process in which there is a progressive decline of behavioral response probability with exposure to xenobiotics csmith 2012-04-12T11:13:52Z abnormal drug habituation MPheno.ontology MP:0011623 abnormal habituation to xenobiotic MP:0011623 anomaly in the process in which there is a progressive decline of behavioral response probability with exposure to xenobiotics https://orcid.org/0000-0003-3691-0324 anomaly in the process in which a progressive amplification of a behavioral response follows repeated administration of a xenobiotic csmith 2012-04-12T11:14:40Z MPheno.ontology MP:0011624 abnormal sensitization to xenobiotic MP:0011624 anomaly in the process in which a progressive amplification of a behavioral response follows repeated administration of a xenobiotic https://orcid.org/0000-0003-3691-0324 caliculi, or a solid concretion or crystal aggregation, found in the urinary bladder; often embedded in a glycoprotein matrix which may also contain some nonglycoproteins when associated with infection csmith 2012-04-12T12:48:58Z urinary bladder stones urinary calculi vesical calculus MPheno.ontology MP:0011625 cystolithiasis MP:0011625 caliculi, or a solid concretion or crystal aggregation, found in the urinary bladder; often embedded in a glycoprotein matrix which may also contain some nonglycoproteins when associated with infection https://orcid.org/0000-0003-3691-0324 presence of caliculi, or a solid concretion or crystal aggregation formed from orotic acid, found in the urinary bladder; often embedded in a glycoprotein matrix which may also contain some nonglycoproteins when associated with infection csmith 2012-04-12T12:52:40Z orotic acid vesical calculus MPheno.ontology MP:0011626 orotic acid urinary bladder stones MP:0011626 presence of caliculi, or a solid concretion or crystal aggregation formed from orotic acid, found in the urinary bladder; often embedded in a glycoprotein matrix which may also contain some nonglycoproteins when associated with infection https://orcid.org/0000-0003-3691-0324 visually detectable dilution of pigment present in the skin csmith 2012-04-12T01:10:57Z MPheno.ontology MP:0011627 decreased skin pigmentation MP:0011627 visually detectable dilution of pigment present in the skin https://orcid.org/0000-0003-3691-0324 greater than normal number of the cellular organelles responsible for energy production csmith 2012-04-12T01:40:51Z increased mitochondria number MPheno.ontology MP:0011628 increased mitochondrial number MP:0011628 greater than normal number of the cellular organelles responsible for energy production https://orcid.org/0000-0003-3691-0324 fewer than normal number of the cellular organelles responsible for energy production csmith 2012-04-12T01:40:51Z decreased mitochondria number reduced mitochondria number reduced mitochondrial number MPheno.ontology MP:0011629 decreased mitochondrial number MP:0011629 fewer than normal number of the cellular organelles responsible for energy production https://orcid.org/0000-0003-3691-0324 increased size of the cellular organelles responsible for energy production csmith 2012-04-12T01:40:51Z enlarged mitochondria increased mitochondria size MPheno.ontology MP:0011630 increased mitochondrial size MP:0011630 increased size of the cellular organelles responsible for energy production https://orcid.org/0000-0003-3691-0324 reduced size of the cellular organelles responsible for energy production csmith 2012-04-12T01:40:51Z decreased mitochondria size reduced mitochondria size reduced mitochondrial size small mitochondria MPheno.ontology MP:0011631 decreased mitochondrial size MP:0011631 reduced size of the cellular organelles responsible for energy production https://orcid.org/0000-0003-3691-0324 the luminal space of one or more mitochondria is increased in volume or area, usually with an increase of contained fluid csmith 2012-04-12T01:40:51Z dilated mitochondria swollen mitochondria swollen mitochondrion MPheno.ontology MP:0011632 dilated mitochondrion MP:0011632 the luminal space of one or more mitochondria is increased in volume or area, usually with an increase of contained fluid https://orcid.org/0000-0003-3691-0324 any anomaly in the characteristic surface outline or contour of a mitochondria csmith 2012-04-12T01:40:51Z abnormal mitochondria shape MPheno.ontology MP:0011633 abnormal mitochondrial shape MP:0011633 any anomaly in the characteristic surface outline or contour of a mitochondria https://orcid.org/0000-0003-3691-0324 any structural anomaly of the inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope, which is highly folded to form cristae csmith 2012-04-12T01:40:51Z abnormal inner mitochondrial membrane morphology MPheno.ontology MP:0011634 abnormal mitochondrial inner membrane morphology MP:0011634 any structural anomaly of the inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope, which is highly folded to form cristae GO:0005743 Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, where the enzymes of electron transport and oxidative phosphorylation are found; the shape can vary with the respiratory state of the mitochondria csmith 2012-04-12T01:40:51Z abnormal mitochondrial cristae morphology MPheno.ontology MP:0011635 abnormal mitochondrial crista morphology MP:0011635 Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, where the enzymes of electron transport and oxidative phosphorylation are found; the shape can vary with the respiratory state of the mitochondria GO:0030061 derangement of the pattern of the inward folds of the mitochondrial inner membrane csmith 2012-04-12T01:40:51Z disorganised mitochondrial cristae MPheno.ontology MP:0011636 disorganized mitochondrial cristae MP:0011636 derangement of the pattern of the inward folds of the mitochondrial inner membrane https://orcid.org/0000-0003-3691-0324 any structural anomaly of the gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion, and contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation csmith 2012-04-12T01:40:51Z abnormal mitochondrial lumen morphology MPheno.ontology abnormal mitochondrial stroma morphology MP:0011637 abnormal mitochondrial matrix morphology MP:0011637 any structural anomaly of the gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion, and contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation GO:0005759 any structrual anomaly of the chromosome found in the mitochondrion of a eukaryotic cell csmith 2012-04-12T01:40:51Z abnormal mitochondria chromosome morphology abnormal mitochondrial DNA morphology abnormal mitochondrial genome morphology abnormal mitochondrion chromosome morphology abnormal mtDNA morphology MPheno.ontology MP:0011638 abnormal mitochondrial chromosome morphology MP:0011638 any structrual anomaly of the chromosome found in the mitochondrion of a eukaryotic cell GO:0000262 less than expected amount of DNA contained within the mitochondria of a mammalian cell csmith 2012-04-12T01:40:51Z decreased mitochondrial genome size decreased mtDNA amount reduced mitochondrial DNA content MPheno.ontology MP:0011639 decreased mitochondrial DNA content MP:0011639 less than expected amount of DNA contained within the mitochondria of a mammalian cell https://orcid.org/0000-0003-3691-0324 any structural anomaly of the connective tissue bundles in the extracellular matrix of aorta tissue that are composed of collagen, and play a role in tissue strength and elasticity csmith 2012-04-12T02:49:27Z MPheno.ontology MP:0011640 abnormal aorta collagen fibril morphology MP:0011640 any structural anomaly of the connective tissue bundles in the extracellular matrix of aorta tissue that are composed of collagen, and play a role in tissue strength and elasticity https://orcid.org/0000-0003-3691-0324 any structural anomaly of the connective tissue bundles in the extracellular matrix of pulmonary tissue that are composed of collagen, and play a role in tissue strength and elasticity csmith 2012-04-12T02:50:37Z abnormal lung collagen fibril morphology MPheno.ontology MP:0011641 abnormal pulmonary collagen fibril morphology MP:0011641 any structural anomaly of the connective tissue bundles in the extracellular matrix of pulmonary tissue that are composed of collagen, and play a role in tissue strength and elasticity https://orcid.org/0000-0003-3691-0324 any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity csmith 2012-04-12T02:51:34Z MPheno.ontology MP:0011642 abnormal bone collagen fibril morphology MP:0011642 any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity https://orcid.org/0000-0003-3691-0324 any structural anomaly of the connective tissue bundles in the extracellular matrix of tendon tissue that are composed of collagen, and play a role in tissue strength and elasticity csmith 2012-04-12T02:51:58Z MPheno.ontology MP:0011643 abnormal tendon collagen fibril morphology MP:0011643 any structural anomaly of the connective tissue bundles in the extracellular matrix of tendon tissue that are composed of collagen, and play a role in tissue strength and elasticity https://orcid.org/0000-0003-3691-0324 any structural anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the oviduct csmith 2012-04-12T03:02:05Z abnormal oviduct epithelial motile cilia morphology abnormal oviduct epithelial motile cilium morphology MPheno.ontology abnormal oviduct epithelium motile cilia morphology MP:0011644 abnormal oviduct epithelium motile cilium morphology MP:0011644 any structural anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the oviduct https://orcid.org/0000-0003-3691-0324 absence of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the oviduct csmith 2012-04-12T03:05:18Z absent oviduct epithelial motile cilium absent oviduct epithelium motile cilia MPheno.ontology MP:0011645 absent oviduct epithelium motile cilium MP:0011645 absence of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the oviduct https://orcid.org/0000-0003-3691-0324 any structural anomaly of the valve at the sinoatrial orifice at the opening of the sinus venosus into the primordial right atrium csmith 2012-04-12T03:34:39Z abnormal SA valve morphology abnormal sinuatrial valve morphology MPheno.ontology MP:0011646 abnormal sinoatrial valve morphology MP:0011646 any structural anomaly of the valve at the sinoatrial orifice at the opening of the sinus venosus into the primordial right atrium ISBN:0-683-40008-8 absence of the valve at the sinoatrial orifice at the opening of the sinus venosus into the primordial right atrium csmith 2012-04-12T03:36:45Z absent SA valve absent sinuatrial valve MPheno.ontology MP:0011647 absent sinoatrial valve MP:0011647 absence of the valve at the sinoatrial orifice at the opening of the sinus venosus into the primordial right atrium ISBN:0-683-40008-8 an increase in the heart cusp wall thickness csmith 2012-04-12T03:38:29Z thick heart valve leaflets thickened heart valve cusps thickened heart valve leaflets MPheno.ontology MP:0011648 thick heart valve cusps MP:0011648 an increase in the heart cusp wall thickness https://orcid.org/0000-0003-3691-0324 failure of the multiple epithelial tiny, motile hair-like projections of the repiratory tract epithelium to beat with a characteristic whip-like pattern in order to promote transport of fluids and other cells across the epithelium of the respiratory tract csmith 2012-04-12T03:50:15Z immotile airway cilium immotile respiratory cilium MPheno.ontology MP:0011649 immotile respiratory cilia MP:0011649 failure of the multiple epithelial tiny, motile hair-like projections of the repiratory tract epithelium to beat with a characteristic whip-like pattern in order to promote transport of fluids and other cells across the epithelium of the respiratory tract https://orcid.org/0000-0003-3691-0324 any structural anomaly of the connective tissue bundles in the extracellular matrix of corneal stroma that are composed of collagen, and play a role in tissue strength and elasticity csmith 2012-04-18T07:12:54Z abnormal corneal stroma collagen fibril morphology MPheno.ontology MP:0011650 abnormal cornea stroma collagen fibril morphology MP:0011650 any structural anomaly of the connective tissue bundles in the extracellular matrix of corneal stroma that are composed of collagen, and play a role in tissue strength and elasticity https://orcid.org/0000-0003-3691-0324 the amount of the amino acid histidine in the blood is more or less than expected csmith 2012-04-18T08:22:18Z MPheno.ontology MP:0011651 abnormal circulating histidine level MP:0011651 the amount of the amino acid histidine in the blood is more or less than expected MGI:llw2 the amount of the amino acid histidine in the blood is more than expected csmith 2012-04-18T08:25:23Z MPheno.ontology histidinaemia histidinemia MP:0011652 increased circulating histidine level MP:0011652 the amount of the amino acid histidine in the blood is more than expected MGI:llw2 the amount of the amino acid histidine in the blood is less than expected csmith 2012-04-18T08:25:23Z reduced circulating histidine level MPheno.ontology MP:0011653 decreased circulating histidine level MP:0011653 the amount of the amino acid histidine in the blood is less than expected MGI:llw2 increased excretion of histidine and related imidazole metabolites in urine csmith 2012-04-18T08:29:04Z increased urine histidine level MPheno.ontology MP:0011654 histidinuria MP:0011654 increased excretion of histidine and related imidazole metabolites in urine MGI:llw2 increased urine histidine level https://orcid.org/0000-0002-6490-7723 any structural anomaly of the arteries that carry oxygenated blood away from the heart to the body, as opposed to the pulmonary arteries, which carry deoxygenated blood to the lungs csmith 2012-04-19T11:32:37Z systemic artery anomaly Fyler:2600 systemic artery dysplasia MPheno.ontology MP:0011655 abnormal systemic artery morphology MP:0011655 any structural anomaly of the arteries that carry oxygenated blood away from the heart to the body, as opposed to the pulmonary arteries, which carry deoxygenated blood to the lungs https://orcid.org/0000-0003-3691-0324 an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation csmith 2012-04-19T11:41:27Z Fyler:2240 coronary arteriovenous fistula MPheno.ontology MP:0011656 coronary arterio-venous fistula MP:0011656 an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation http://emedicine.medscape.com an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering a chamber of the heart (coronary-cameral fistula) csmith 2012-04-19T11:43:16Z MPheno.ontology MP:0011657 coronary-cameral fistula MP:0011657 an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering a chamber of the heart (coronary-cameral fistula) http://emedicine.medscape.com complete discontinuation/blockage between the ascending and descending aorta with the interruption located distal to the subclavian artery that is ipsilateral to the second carotid artery csmith 2012-04-19T11:46:03Z interrupted aortic arch type a MPheno.ontology MP:0011658 interrupted aortic arch, type a MP:0011658 complete discontinuation/blockage between the ascending and descending aorta with the interruption located distal to the subclavian artery that is ipsilateral to the second carotid artery https://orcid.org/0000-0003-3691-0324 complete discontinuation/blockage between the ascending and descending aorta with the interruption located between second carotid artery and ipsilateral subclavian artery csmith 2012-04-19T11:46:03Z Fyler:1252 interrupted aortic arch type b MPheno.ontology MP:0011659 interrupted aortic arch, type b MP:0011659 complete discontinuation/blockage between the ascending and descending aorta with the interruption located between second carotid artery and ipsilateral subclavian artery https://orcid.org/0000-0003-3691-0324 congenital condition in which the heart is exposed and/or protruding from the thorax due to abnormal development of the sternum, pericardium and/or the abdominal wall csmith 2012-04-20T10:20:09Z Fyler:0170 Fyler:170 MPheno.ontology MP:0011660 ectopia cordis MP:0011660 congenital condition in which the heart is exposed and/or protruding from the thorax due to abnormal development of the sternum, pericardium and/or the abdominal wall ISBN:0-683-40008-8 complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type i is characterized by origin of a single pulmonary trunk from the left lateral aspect of the common trunk, with branching of the left and right pulmonary arteries from the pulmonary trunk csmith 2012-04-20T10:48:42Z Fyler:0510 Fyler:510 PTA, type I MPheno.ontology MP:0011661 persistent truncus arteriosus type i MP:0011661 complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type i is characterized by origin of a single pulmonary trunk from the left lateral aspect of the common trunk, with branching of the left and right pulmonary arteries from the pulmonary trunk http://emedicine.medscape.com complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches from the posterolateral aspect of the common arterial trunk csmith 2012-04-20T10:48:42Z Fyler:0520 Fyler:520 PTA, type II MPheno.ontology MP:0011662 persistent truncus arteriosus type ii MP:0011662 complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches from the posterolateral aspect of the common arterial trunk http://emedicine.medscape.com complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; in type iii the branch pulmonary arteries originate independently from the common arterial trunk or aortic arch, most often from the left and right lateral aspects of the trunk; this occasionally occurs with origin of one pulmonary artery from the underside of the aortic arch, usually from a ductus arteriosus csmith 2012-04-20T11:11:47Z Fyler:0530 Fyler:530 PTA, type III MPheno.ontology MP:0011663 persistent truncus arteriosus type iii MP:0011663 complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; in type iii the branch pulmonary arteries originate independently from the common arterial trunk or aortic arch, most often from the left and right lateral aspects of the trunk; this occasionally occurs with origin of one pulmonary artery from the underside of the aortic arch, usually from a ductus arteriosus http://emedicine.medscape.com complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type i is a form of the lesion with neither pulmonary arterial branch arises from the common trunk, and is more commonly recognized to be a form of pulmonary atresia with ventricular septal defect rather than truncus arteriosus csmith 2012-04-20T11:12:08Z Fyler:0540 Fyler:540 PTA, type IV persistent truncus arteriosus type 4 MPheno.ontology MP:0011664 persistent truncus arteriosus type iv MP:0011664 complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type i is a form of the lesion with neither pulmonary arterial branch arises from the common trunk, and is more commonly recognized to be a form of pulmonary atresia with ventricular septal defect rather than truncus arteriosus http://emedicine.medscape.com complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and the great arteries are parallel rather than crossing csmith 2012-04-20T11:24:23Z Fyler:0700 Fyler:700 D-TGA complete transposition of the great arteries MPheno.ontology MP:0011665 d-loop transposition of the great arteries MP:0011665 complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and the great arteries are parallel rather than crossing PMID:17159076 a form of DORV in which a ventricular septal defect is located just below the aorta; the left ventricular outflow is directed toward the aorta, resulting in aortic oxygen saturations that exceed pulmonary saturations; pulmonary stenosis is also often present csmith 2012-04-20T11:38:09Z Fyler:0602 Fyler:602 DORV, ventricular defect committed to aorta MPheno.ontology MP:0011666 double outlet right ventricle, ventricular defect committed to aorta MP:0011666 a form of DORV in which a ventricular septal defect is located just below the aorta; the left ventricular outflow is directed toward the aorta, resulting in aortic oxygen saturations that exceed pulmonary saturations; pulmonary stenosis is also often present https://orcid.org/0000-0003-3691-0324 a form of DORV in which there is also a complete atrioventricular canal csmith 2012-04-20T11:38:09Z Fyler:0606 Fyler:606 AV canal DORV + AVSD (AV canal) MPheno.ontology MP:0011667 double outlet right ventricle with atrioventricular septal defect MP:0011667 a form of DORV in which there is also a complete atrioventricular canal https://orcid.org/0000-0003-3691-0324 a form of DORV in which blood from the left ventricle passes through a ventricular septal defect to the pulmonary artery, and blood from the right ventricle is directed to the aorta csmith 2012-04-20T11:38:09Z Fyler:0610 Fyler:610 DORV, Taussing bing MPheno.ontology double outlet right ventricle with subpulmonary VSD MP:0011668 double outlet right ventricle, Taussig bing type MP:0011668 a form of DORV in which blood from the left ventricle passes through a ventricular septal defect to the pulmonary artery, and blood from the right ventricle is directed to the aorta https://orcid.org/0000-0003-3691-0324 a form of DORV in which there are two ventricular septal defects, one below the aorta and one below the pulmonary artery and the left ventricular outflow is equally shared by the aorta and pulmonary artery csmith 2012-04-20T12:31:42Z Fyler:0604 Fyler:604 MPheno.ontology MP:0011669 double outlet right ventricle, doubly committed ventricular septal defect MP:0011669 a form of DORV in which there are two ventricular septal defects, one below the aorta and one below the pulmonary artery and the left ventricular outflow is equally shared by the aorta and pulmonary artery http://emedicine.medscape.com https://orcid.org/0000-0003-3691-0324 a form of DORV in which the ventricular septal defect is distant from both the aorta and pulmonary artery and blood mixes in the right ventricle before entering these vessels, with the majority of deoxygenated blood entering the aorta csmith 2012-04-20T12:32:41Z Fyler:0603 Fyler:603 double outlet right ventricle, ventricular septal defect uncommitted MPheno.ontology MP:0011670 double outlet right ventricle, noncommitted ventricular septal defect MP:0011670 a form of DORV in which the ventricular septal defect is distant from both the aorta and pulmonary artery and blood mixes in the right ventricle before entering these vessels, with the majority of deoxygenated blood entering the aorta https://orcid.org/0000-0003-3691-0324 a balanced complete atrioventricular septal defect occurs when the atrioventricular junction is connected equally to the right and left ventricles so that each ventricle receives a similar amount of blood and the ventricles are symmetrical in size csmith 2012-04-20T01:32:23Z Fyler:1124 balanced complete atrioventricular septal defect MPheno.ontology MP:0011671 balanced complete atrioventricular canal MP:0011671 a balanced complete atrioventricular septal defect occurs when the atrioventricular junction is connected equally to the right and left ventricles so that each ventricle receives a similar amount of blood and the ventricles are symmetrical in size https://radiologykey.com/atrioventricular-septal-defects/ an unbalanced form of a complete atrioventricular septal defect where the atrioventricular junction is predominantly committed to the left ventricle; in left ventricular dominance, there can be hypoplasia of the right ventricle and pulmonary artery csmith 2012-04-20T01:32:23Z Fyler:1125 unbalanced complete atrioventricular septal defect, left dominant MPheno.ontology MP:0011672 unbalanced complete atrioventricular canal, left dominant MP:0011672 an unbalanced form of a complete atrioventricular septal defect where the atrioventricular junction is predominantly committed to the left ventricle; in left ventricular dominance, there can be hypoplasia of the right ventricle and pulmonary artery https://clinicalgate.com/atrioventricular-septal-defect-echocardiographic-assessment/ an unbalanced complete atrioventricular septal defect occurs when the atrioventricular junction is predominantly committed to either the right or left ventricle, leading to hypoplasia of the opposing ventricle receiving the smaller amount of blood csmith 2012-04-20T01:32:23Z Fyler:1132 unbalanced complete atrioventricular septal defect MPheno.ontology MP:0011673 unbalanced complete common atrioventricular canal MP:0011673 an unbalanced complete atrioventricular septal defect occurs when the atrioventricular junction is predominantly committed to either the right or left ventricle, leading to hypoplasia of the opposing ventricle receiving the smaller amount of blood https://radiologykey.com/atrioventricular-septal-defects/ small ectopic arteries or arterial branches that arise from the aorta or its first-order branches and are distally connected to the pulmonary arterial vasculature csmith 2012-04-20T01:57:13Z Fyler:2271 MPheno.ontology MAPCAS MP:0011674 multiple major aortopulmonary collateral arteries MP:0011674 small ectopic arteries or arterial branches that arise from the aorta or its first-order branches and are distally connected to the pulmonary arterial vasculature PMID:35782757 defect in which the aortic arch splits into equally sized large left and right branches, encircling the trachea and esophagus, before becoming one tube to go to the lower body csmith 2012-04-20T01:58:34Z Fyler:2780 MPheno.ontology MP:0011675 double aortic arch, balanced arches MP:0011675 defect in which the aortic arch splits into equally sized large left and right branches, encircling the trachea and esophagus, before becoming one tube to go to the lower body https://orcid.org/0000-0003-3691-0324 any impediment or blockage causing a cessation or reversal of the normal flow of the blood through the aortic arch csmith 2012-04-20T02:00:44Z Fyler:1241 transverse arch obstruction MPheno.ontology MP:0011676 aortic arch obstruction MP:0011676 any impediment or blockage causing a cessation or reversal of the normal flow of the blood through the aortic arch https://orcid.org/0000-0003-3691-0324 any functional anomaly of cells that innervate the olfactory epithelium and are responsible for receiving and transmitting odorant signals csmith 2012-04-20T03:00:44Z abnormal olfactory neuron physiology MPheno.ontology MP:0011677 abnormal olfactory sensory neuron physiology MP:0011677 any functional anomaly of cells that innervate the olfactory epithelium and are responsible for receiving and transmitting odorant signals https://orcid.org/0000-0003-3691-0324 any functional anomaly of chemosensitive cells that innervate the vomernasal organ epithelium and are responsible for receiving and transmitting pheromone signals csmith 2012-04-20T03:00:44Z MPheno.ontology MP:0011678 This organ is believed to function in sensing pheromones. While the structure has been thought to be absent from higher primate adults, some data suggests that a form may be present in adult humans. abnormal vomeronasal sensory neuron physiology MP:0011678 any functional anomaly of chemosensitive cells that innervate the vomernasal organ epithelium and are responsible for receiving and transmitting pheromone signals https://orcid.org/0000-0003-3691-0324 any structural anomaly of chemosensitive cells that innervate the vomernasal organ epithelium and are responsible for receiving and transmitting pheromone signals csmith 2012-04-20T03:06:45Z MPheno.ontology MP:0011679 abnormal vomeronasal sensory neuron morphology MP:0011679 any structural anomaly of chemosensitive cells that innervate the vomernasal organ epithelium and are responsible for receiving and transmitting pheromone signals https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the tricuspid valve, typically resulting in decreased size csmith 2012-04-27T09:13:56Z Fyler:1720 hypoplastic right AV valve hypoplastic right atrioventricular valve hypoplastic tricuspid valve right AV valve hypoplasia right atrioventricular valve hypoplasia MPheno.ontology MP:0011680 tricuspid valve hypoplasia MP:0011680 decrease in the number of normal cells in normal arrangement in the tricuspid valve, typically resulting in decreased size https://orcid.org/0000-0003-3691-0324 presence of one or more abnormal membranous sacs in any portion of the paired upper chambers of the heart csmith 2012-04-27T09:53:10Z atrial cyst atrial cysts atrium cysts cystic atria cystic atrium MPheno.ontology MP:0011681 atrium cyst MP:0011681 presence of one or more abnormal membranous sacs in any portion of the paired upper chambers of the heart https://orcid.org/0000-0003-3691-0324 presence of one or more abnormal membranous sacs in any portion of the renal glomerulus csmith 2012-04-27T09:55:46Z cystic glomeruli cystic glomerulus cystic kidney glomeruli cystic kidney glomerulus cystic renal glomeruli cystic renal glomerulus glomerular cysts renal glomerulus cysts MPheno.ontology MP:0011682 renal glomerulus cyst MP:0011682 presence of one or more abnormal membranous sacs in any portion of the renal glomerulus https://orcid.org/0000-0003-3691-0324 presence of two inferior vena cavae, often resulting from the persistence of both supracardinal veins during development; the two structures may be symmetric or asymmetric but typically join together at the renal vein csmith 2012-04-27T09:57:17Z congenital duplicated inferior vena cava double IVC double inferior vena cava dual inferior vena cavae duplicated inferior vena cava MPheno.ontology MP:0011683 dual inferior vena cava MP:0011683 presence of two inferior vena cavae, often resulting from the persistence of both supracardinal veins during development; the two structures may be symmetric or asymmetric but typically join together at the renal vein PMID:10835118 https://orcid.org/0000-0003-3691-0324 an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle csmith 2012-04-27T10:15:15Z Fyler:2233 coronary-cameral fistula to right ventricle MPheno.ontology MP:0011684 coronary-cameral fistula to heart right ventricle MP:0011684 an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle https://orcid.org/0000-0003-3691-0324 any structural anomaly of the transient developing limb structure that develops from the limb bud; it is a dorsoventral flattening of the limb bud structure and develops into the foot plate csmith 2012-04-27T10:38:17Z MPheno.ontology MP:0011685 abnormal limb paddle morphology MP:0011685 any structural anomaly of the transient developing limb structure that develops from the limb bud; it is a dorsoventral flattening of the limb bud structure and develops into the foot plate https://orcid.org/0000-0003-3691-0324 greater than expected number of somatic stem cells that are part of the epidermis csmith 2012-05-11T10:15:24Z MPheno.ontology MP:0011686 increased epidermal stem cell number MP:0011686 greater than expected number of somatic stem cells that are part of the epidermis CL:1000428 https://orcid.org/0000-0003-3691-0324 a reduction in the number of somatic stem cells that are part of the epidermis csmith 2012-05-11T10:15:25Z MPheno.ontology MP:0011687 decreased epidermal stem cell number MP:0011687 a reduction in the number of somatic stem cells that are part of the epidermis CL:1000428 https://orcid.org/0000-0003-3691-0324 absence of the somatic stem cells that are part of the epidermis csmith 2012-05-11T10:15:26Z MPheno.ontology MP:0011688 absent epidermal stem cells MP:0011688 absence of the somatic stem cells that are part of the epidermis CL:1000428 https://orcid.org/0000-0003-3691-0324 absence of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes csmith 2012-05-11T11:15:58Z MPheno.ontology MP:0011689 absent neutrophils MP:0011689 absence of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes CL:0000775 https://orcid.org/0000-0003-3691-0324 absence of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size; these cells contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation csmith 2012-05-11T12:09:08Z MPheno.ontology MP:0011690 absent basophils MP:0011690 absence of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size; these cells contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation CL:0000767 absence of the respiratory stem cells found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury csmith 2012-05-11T01:13:13Z MPheno.ontology MP:0011691 absent bronchioalveolar stem cells MP:0011691 absence of the respiratory stem cells found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury CL:0002638 greater number of polymorphic cells that form cartilage csmith 2012-05-11T01:24:38Z MPheno.ontology MP:0011692 increased chondrocyte number MP:0011692 greater number of polymorphic cells that form cartilage CL:0000138 absence of polymorphic cells that form cartilage csmith 2012-05-11T01:25:06Z MPheno.ontology MP:0011693 absent chondrocytes MP:0011693 absence of polymorphic cells that form cartilage CL:0000138 any structural anomaly of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin csmith 2012-05-11T01:30:36Z MPheno.ontology MP:0011694 absent eosinophils MP:0011694 any structural anomaly of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin CL:0000771 absence of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages csmith 2012-05-11T01:35:28Z absent HSCs absent haematopoietic stem cells MPheno.ontology MP:0011695 absent hematopoietic stem cells MP:0011695 absence of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages https://orcid.org/0000-0003-3691-0324 any structural anomaly of a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation; progenitors leave bone marrow and mature in connective and mucosal tissue; mature mast cells are found in all tissues, except the bloodstream. csmith 2012-05-11T01:37:43Z MPheno.ontology MP:0011696 absent mast cells MP:0011696 any structural anomaly of a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation; progenitors leave bone marrow and mature in connective and mucosal tissue; mature mast cells are found in all tissues, except the bloodstream. CL:0000097 abnormal presence of fluid-filled cavities in the cytoplasm of the transparent structure of the eye responsible for focusing light csmith 2012-05-11T02:01:06Z vacuolated lens MPheno.ontology MP:0011697 lens vacuoles MP:0011697 abnormal presence of fluid-filled cavities in the cytoplasm of the transparent structure of the eye responsible for focusing light MGI:llw2 https://orcid.org/0000-0002-6490-7723 any functional anomaly in the thermogenic form of adipose tissue that is composed of brown adipocytes csmith 2012-05-11T02:07:12Z MPheno.ontology MP:0011698 abnormal brown adipose tissue physiology MP:0011698 any functional anomaly in the thermogenic form of adipose tissue that is composed of brown adipocytes https://orcid.org/0000-0003-4606-0597 any anomaly in the process of heat production in brown adipocytes csmith 2012-05-11T03:31:50Z MPheno.ontology MP:0011699 abnormal brown adipose tissue thermogenesis MP:0011699 any anomaly in the process of heat production in brown adipocytes https://orcid.org/0000-0003-4606-0597 greater ability of the ovarian cumulus cells to secrete an extensive extracellular matrix required for successful fertilization csmith 2012-05-18T10:58:29Z increased ovarian cumulus expansion increased ovarian cumulus growth MPheno.ontology MP:0011700 increased cumulus expansion MP:0011700 greater ability of the ovarian cumulus cells to secrete an extensive extracellular matrix required for successful fertilization https://orcid.org/0000-0002-6490-7723 reduced ability of the ovarian cumulus cells to secrete an extensive extracellular matrix required for successful fertilization csmith 2012-05-18T10:58:29Z impaired ovarian cumulus expansion reduced ovarian cumulus growth MPheno.ontology MP:0011701 decreased cumulus expansion MP:0011701 reduced ability of the ovarian cumulus cells to secrete an extensive extracellular matrix required for successful fertilization https://orcid.org/0000-0002-6490-7723 anomaly in the ability of a fibroblast cell population to undergo expansion by cell division csmith 2012-05-18T11:21:46Z CL:0000057 GO:0048144 MPheno.ontology MP:0011702 abnormal fibroblast proliferation MP:0011702 anomaly in the ability of a fibroblast cell population to undergo expansion by cell division https://orcid.org/0000-0003-3691-0324 greater the expansion rate of a fibroblast cell population by cell division csmith 2012-05-18T11:22:45Z MPheno.ontology MP:0011703 increased fibroblast proliferation MP:0011703 greater the expansion rate of a fibroblast cell population by cell division https://orcid.org/0000-0003-3691-0324 reduction in the expansion rate of a fibroblast cell population by cell division csmith 2012-05-18T11:22:45Z reduced fibroblast proliferation MPheno.ontology MP:0011704 decreased fibroblast proliferation MP:0011704 reduction in the expansion rate of a fibroblast cell population by cell division https://orcid.org/0000-0003-3691-0324 failure of a fibroblast cell population to undergo expansion by cell division csmith 2012-05-18T11:22:45Z failure of fibroblast proliferation MPheno.ontology MP:0011705 absent fibroblast proliferation MP:0011705 failure of a fibroblast cell population to undergo expansion by cell division https://orcid.org/0000-0003-3691-0324 any anomaly of fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium csmith 2012-05-18T11:38:55Z CL:0000057 GO:0010761 MPheno.ontology MP:0011706 abnormal fibroblast migration MP:0011706 any anomaly of fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium GO:0010761 failure of cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium csmith 2012-05-18T11:42:49Z MPheno.ontology MP:0011707 impaired fibroblast cell migration MP:0011707 failure of cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium https://orcid.org/0000-0003-3691-0324 reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium csmith 2012-05-18T11:42:49Z MPheno.ontology MP:0011708 decreased fibroblast cell migration MP:0011708 reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium https://orcid.org/0000-0003-3691-0324 greater frequency of or more rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium csmith 2012-05-18T11:42:49Z MPheno.ontology MP:0011709 increased fibroblast cell migration MP:0011709 greater frequency of or more rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium https://orcid.org/0000-0003-3691-0324 increased ability or increased rate of production of skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell csmith 2012-05-18T11:56:40Z MPheno.ontology increased osteoblast differentiation MP:0011710 enhanced osteoblast differentiation MP:0011710 increased ability or increased rate of production of skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell CL:0000062 reduced ability or inability to produce skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell csmith 2012-05-18T11:56:40Z MPheno.ontology decreased osteoblast differentiation MP:0011711 impaired osteoblast differentiation MP:0011711 reduced ability or inability to produce skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell CL:0000062 inability to produce skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell, due to a block in the process to create a mature osteoblast csmith 2012-05-18T11:56:40Z MPheno.ontology absent osteoblast differentiation MP:0011712 arrested osteoblast differentiation MP:0011712 inability to produce skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell, due to a block in the process to create a mature osteoblast CL:0000062 anomaly in the amount in the blood of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells csmith 2012-05-18T03:06:52Z MPheno.ontology MP:0011713 abnormal circulating interleukin-8 level MP:0011713 anomaly in the amount in the blood of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells MESH:D12.644.276.374.200.120.800 increase in the amount in the blood of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells csmith 2012-05-18T03:06:52Z MPheno.ontology MP:0011714 increased circulating interleukin-8 level MP:0011714 increase in the amount in the blood of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells MESH:D12.644.276.374.200.120.800 reduction in the amount in the blood of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells csmith 2012-05-18T03:06:52Z MPheno.ontology MP:0011715 decreased circulating interleukin-8 level MP:0011715 reduction in the amount in the blood of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells MESH:D12.644.276.374.200.120.800 anomaly in the production or release of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells csmith 2012-05-18T03:08:08Z MPheno.ontology MP:0011716 abnormal interleukin-8 secretion MP:0011716 anomaly in the production or release of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells MESH:D12.644.276.374.200.120.800 increase in the production or release of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells csmith 2012-05-18T03:08:08Z MPheno.ontology MP:0011717 increased interleukin-8 secretion MP:0011717 increase in the production or release of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells MESH:D12.644.276.374.200.120.800 reduction in the production or release of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells csmith 2012-05-18T03:08:08Z MPheno.ontology MP:0011718 decreased interleukin-8 secretion MP:0011718 reduction in the production or release of a member of the CXC chemokine family that plays a role in the regulation of the acute inflammatory response, is secreted by variety of cell types and induces chemotaxis of neutrophils and other inflammatory cells MESH:D12.644.276.374.200.120.800 any anomaly in the process of directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors csmith 2012-05-18T03:45:46Z abnormal killer activity GO:0042267 abnormal NK cell mediated cell death abnormal NK cell mediated cell killing abnormal NK cell mediated cytolysis abnormal NK cell mediated cytotoxicity abnormal natural killer cell mediated cell death abnormal natural killer cell mediated cell killing abnormal natural killer cell mediated cytolysis abnormal natural killer-cell mediated cytolysis MPheno.ontology MP:0011719 abnormal natural killer cell mediated cytotoxicity MP:0011719 any anomaly in the process of directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors GO:0042267 any anomaly in the formation or growth of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in response to injury or other physical, physiological or environmental stress stimuli csmith 2012-07-11T09:23:05Z MPheno.ontology MP:0011720 abnormal ossification involved in bone remodeling MP:0011720 any anomaly in the formation or growth of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in response to injury or other physical, physiological or environmental stress stimuli GO:0043932 anomaly in the deposition of calcium phosphate in bone tissue, involved in the progression of the developing skeleton from its formation to its mature state csmith 2012-07-11T09:37:33Z MPheno.ontology MP:0011721 abnormal bone mineralization involved in bone maturation MP:0011721 anomaly in the deposition of calcium phosphate in bone tissue, involved in the progression of the developing skeleton from its formation to its mature state GO:0035630 anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in the progression of the developing skeleton from its formation to its mature state csmith 2012-07-11T09:39:42Z abnormal ossification involved in skeletal development MPheno.ontology MP:0011722 abnormal ossification involved in bone maturation MP:0011722 anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in the progression of the developing skeleton from its formation to its mature state GO:0043931 appearance of a neuron or group of neurons in a region where it is not normally found csmith 2012-09-27T02:37:58Z neuronal ectopia neuronal heterotopia MPheno.ontology MP:0011723 ectopic neuron MP:0011723 appearance of a neuron or group of neurons in a region where it is not normally found https://orcid.org/0000-0003-3691-0324 appearance of a cerebral cortical neuron or group of cerebral cortical neurons in a region where it is not normally found csmith 2012-09-27T02:38:52Z cortical neuron ectopia MPheno.ontology MP:0011724 ectopic cortical neuron MP:0011724 appearance of a cerebral cortical neuron or group of cerebral cortical neurons in a region where it is not normally found https://orcid.org/0000-0003-3691-0324 during development, migrating cortical neurons fail to stop at the border of the marginal zone and continue through this layer and occasionally through the pial-glial layer into the meninges csmith 2012-09-27T02:39:48Z MPheno.ontology MP:0011725 neuronal leptomeningeal ectopia MP:0011725 during development, migrating cortical neurons fail to stop at the border of the marginal zone and continue through this layer and occasionally through the pial-glial layer into the meninges PMID:9184108 appearance of a Cajal-Retzius cell in a region where it is not normally found csmith 2012-09-27T02:40:54Z MPheno.ontology MP:0011726 ectopic Cajal-Retzius cell MP:0011726 appearance of a Cajal-Retzius cell in a region where it is not normally found https://orcid.org/0000-0003-3691-0324 one or both of the ovaries located outside the normal pathway of descent from the lumbar region to a shallow depression on the lateral wall of the pelvis known as the ovarian fossa; the fossa usually lies beneath the external iliac artery and in front of the ureter and the internal iliac artery; ovarian maldescent may be associated with Mullerian malformations csmith 2012-09-27T02:50:01Z ectopic ovarian tissue maldescended ovaries ovarian ectopia ovarian ectopy ovarian maldescent ovary ectopia MPheno.ontology MP:0011727 ectopic ovary MP:0011727 one or both of the ovaries located outside the normal pathway of descent from the lumbar region to a shallow depression on the lateral wall of the pelvis known as the ovarian fossa; the fossa usually lies beneath the external iliac artery and in front of the ureter and the internal iliac artery; ovarian maldescent may be associated with Mullerian malformations https://orcid.org/0000-0002-6490-7723 any functional anomaly of the small flattened endocrine gland located in the depression between the superior colliculi of the brain csmith 2012-09-27T02:54:58Z abnormal conarium physiology abnormal corpus pineale physiology abnormal epiphysis cerebri physiology abnormal glandula pinealis physiology abnormal pineal body function abnormal pineal body physiology abnormal pineal gland function MPheno.ontology MP:0011728 abnormal pineal gland physiology MP:0011728 any functional anomaly of the small flattened endocrine gland located in the depression between the superior colliculi of the brain MGI:llw2 anomaly in the production and/or release of a catecholamine hormone by the pineal body that controls behavior influenced by seasonal changes csmith 2012-09-27T02:57:00Z MPheno.ontology MP:0011729 abnormal pineal gland melatonin secretion MP:0011729 anomaly in the production and/or release of a catecholamine hormone by the pineal body that controls behavior influenced by seasonal changes MGI:llw2 increase in the depth of the insulating envelope that surrounds nerve fibers or axons csmith 2012-09-27T03:27:40Z MPheno.ontology MP:0011730 increased myelin sheath thickness MP:0011730 increase in the depth of the insulating envelope that surrounds nerve fibers or axons https://orcid.org/0000-0003-4606-0597 decrease in the depth of the insulating envelope that surrounds nerve fibers or axons csmith 2012-09-27T03:28:04Z reduced myelin sheath thickness MPheno.ontology MP:0011731 decreased myelin sheath thickness MP:0011731 decrease in the depth of the insulating envelope that surrounds nerve fibers or axons https://orcid.org/0000-0003-4606-0597 reduced size of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo csmith 2012-09-27T03:33:36Z reduced somite size small somites MPheno.ontology MP:0011732 decreased somite size MP:0011732 reduced size of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo https://orcid.org/0000-0002-6490-7723 a defect in which there is an appearance of a single enlarged somite resulting from partial or complete fusion of the two somitic anlage csmith 2012-09-27T03:34:50Z fusion of somites somite fusion MPheno.ontology MP:0011733 fused somites MP:0011733 a defect in which there is an appearance of a single enlarged somite resulting from partial or complete fusion of the two somitic anlage https://orcid.org/0000-0003-4606-0597 any change in the amount of ammonia in urine csmith 2012-09-27T03:39:05Z abnormal urine ammonium level MPheno.ontology MP:0011734 abnormal urine ammonia level MP:0011734 any change in the amount of ammonia in urine https://orcid.org/0000-0002-6490-7723 a greater amount of ammonia in the urine compared to the normal state csmith 2012-09-27T03:39:53Z increased ammonium excretion increased urine ammonium level MPheno.ontology MP:0011735 increased urine ammonia level MP:0011735 a greater amount of ammonia in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 a reduced amount of ammonia in the urine compared to the normal state csmith 2012-09-27T03:39:53Z decreased ammonium excretion reduced ammonium excretion reduced urine ammonium level decreased urine ammonium level MPheno.ontology MP:0011736 decreased urine ammonia level MP:0011736 a reduced amount of ammonia in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 abnormally diminished thirst with a consequential reduction of fluid intake; often related to dysfunction of the thirst osmoreceptor in the anterior hypothalamus csmith 2012-09-27T03:48:47Z hypodypsia MPheno.ontology MP:0011737 hypodipsia MP:0011737 abnormally diminished thirst with a consequential reduction of fluid intake; often related to dysfunction of the thirst osmoreceptor in the anterior hypothalamus https://orcid.org/0000-0002-6490-7723 widespread swelling due to effusion of serous fluid into the extracellular space, especially into the connective tissue csmith 2012-09-27T03:54:03Z extreme generalized edema extreme generalized oedema generalized massive edema generalized massive oedema MPheno.ontology MP:0011738 anasarca MP:0011738 widespread swelling due to effusion of serous fluid into the extracellular space, especially into the connective tissue https://orcid.org/0000-0003-4606-0597 any structural anomaly of the polyhedral cells located on the basilar membrane beneath the Claudius cells in the basal turn of the cochlea, and considered supporting cells for the organ of Corti; Boettcher cells interweave with each other, project microvilli into the intercellular space, show high levels of calmodulin, and may be involved in mediating Ca(2+) regulation and ion transport csmith 2012-09-27T04:03:51Z CL:0002084 abnormal Bottcher cell morphology abnormal Bottcher's cell morphology MPheno.ontology abnormal Boettcher's cell morphology MP:0011739 abnormal Boettcher cell morphology MP:0011739 any structural anomaly of the polyhedral cells located on the basilar membrane beneath the Claudius cells in the basal turn of the cochlea, and considered supporting cells for the organ of Corti; Boettcher cells interweave with each other, project microvilli into the intercellular space, show high levels of calmodulin, and may be involved in mediating Ca(2+) regulation and ion transport CL:0002084 https://orcid.org/0000-0002-6490-7723 anomaly in the amount of nitrite (NO2-) in the urine; may be suggestive of impaired nitric oxide (NO) release, or of a urinary tract infection csmith 2012-09-27T04:07:53Z MPheno.ontology MP:0011740 abnormal urine nitrite level MP:0011740 anomaly in the amount of nitrite (NO2-) in the urine; may be suggestive of impaired nitric oxide (NO) release, or of a urinary tract infection https://orcid.org/0000-0002-6490-7723 higher than normal amount of nitrite (NO2-) in the urine, usually indicative of a urinary tract infection; commonly a result of the action of Escherichia coli, Proteus vulgaris, and other microorganisms that may reduce nitrates csmith 2012-09-27T04:08:11Z increased nitrite excretion nitrituria MPheno.ontology MP:0011741 increased urine nitrite level MP:0011741 higher than normal amount of nitrite (NO2-) in the urine, usually indicative of a urinary tract infection; commonly a result of the action of Escherichia coli, Proteus vulgaris, and other microorganisms that may reduce nitrates https://orcid.org/0000-0002-6490-7723 lower than normal amount of nitrite (NO2-) in the urine; suggestive of impaired nitric oxide (NO) release csmith 2012-09-27T04:08:29Z decreased nitrite excretion reduced nitrite excretion reduced urine nitrite level MPheno.ontology MP:0011742 decreased urine nitrite level MP:0011742 lower than normal amount of nitrite (NO2-) in the urine; suggestive of impaired nitric oxide (NO) release https://orcid.org/0000-0002-6490-7723 any structural anomaly of the compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack; Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations csmith 2012-09-27T04:11:52Z abnormal Golgi complex morphology abnormal Golgi ribbon morphology MPheno.ontology MP:0011743 abnormal Golgi apparatus morphology MP:0011743 any structural anomaly of the compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack; Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations GO:0005794 MGI:mberry any functional anomaly of the non-motile primary cilia found on renal epithelial cells and thought to act as a mechanical sensor to detect renal tubular fluid; impaired mechanical response of primary cilia to physiological fluid flow, or abnormalities in intracellular Ca2+ increase in response to fluid stress may alter renal (tubular) cell proliferation and differentiation and lead to renal cyst formation csmith 2012-09-27T04:19:00Z abnormal kidney epithelial cell primary cilia physiology abnormal renal epithelial cell primary cilia physiology abnormal renal epithelial cell primary cilium physiology abnormal renal monocilium physiology abnormal renal primary cilium physiology MPheno.ontology MP:0011744 abnormal kidney epithelial cell primary cilium physiology MP:0011744 any functional anomaly of the non-motile primary cilia found on renal epithelial cells and thought to act as a mechanical sensor to detect renal tubular fluid; impaired mechanical response of primary cilia to physiological fluid flow, or abnormalities in intracellular Ca2+ increase in response to fluid stress may alter renal (tubular) cell proliferation and differentiation and lead to renal cyst formation https://orcid.org/0000-0002-6490-7723 the loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus csmith 2012-10-01T01:54:32Z Fyler:2732 MPheno.ontology MP:0011745 isolation of the left subclavian artery MP:0011745 the loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus PMID:16039248 invasion of fibrous connective tissue into the spleen, often resulting from inflammation or injury csmith 2012-10-18T02:34:41Z fibrotic spleen MPheno.ontology MP:0011746 spleen fibrosis MP:0011746 invasion of fibrous connective tissue into the spleen, often resulting from inflammation or injury https://orcid.org/0000-0003-3691-0324 appearance of fibrous connective tissue in the bone marrow, often resulting from inflammation or injury; especially replacement of the marrow with collagenous connective tissue fibers, frequently accompanied by splenomegaly and anemia or cytopenias csmith 2012-10-18T02:38:33Z bone marrow fibrosis myelosclerosis osteomyelofibrosis MPheno.ontology MP:0011747 myelofibrosis MP:0011747 appearance of fibrous connective tissue in the bone marrow, often resulting from inflammation or injury; especially replacement of the marrow with collagenous connective tissue fibers, frequently accompanied by splenomegaly and anemia or cytopenias ISBN:0-683-40008-8 formation of fibrous tissue in any part of the intestine as a result of repair or a reactive process csmith 2012-10-18T03:09:50Z intestinal adhesions intestinal synechia MPheno.ontology MP:0011748 intestinal fibrosis MP:0011748 formation of fibrous tissue in any part of the intestine as a result of repair or a reactive process https://orcid.org/0000-0003-3691-0324 invasion of fibrous connective tissue into the perivascular tissue, often resulting from inflammation or injury csmith 2012-10-18T03:46:04Z MPheno.ontology MP:0011749 perivascular fibrosis MP:0011749 invasion of fibrous connective tissue into the perivascular tissue, often resulting from inflammation or injury https://orcid.org/0000-0003-3691-0324 any structural anomaly of the stratified epithelial lining of the seminiferous tubules, consisting of the developing spermatozoa and the supporting Sertoli cells, which are tall, columnar type cells that line the tubule csmith 2012-10-23T03:20:20Z MP:0006304 abnormal male germinal epithelium morphology abnormal seminiferous epithelium morphology abnormal seminiferous tubule epithelial tissue morphology abnormal seminiferous tubule wall morphology MPheno.ontology MP:0011750 abnormal seminiferous tubule epithelium morphology MP:0011750 any structural anomaly of the stratified epithelial lining of the seminiferous tubules, consisting of the developing spermatozoa and the supporting Sertoli cells, which are tall, columnar type cells that line the tubule https://orcid.org/0000-0003-3691-0324 abnormal seminiferous tubule wall morphology UBERON:0004813 an anomaly in the process in which the side by side pairing and physical juxtaposition of X and Y chromosomes is created at the metaphase plate, usually resulting in incorrect sex chromosome disjunction csmith 2012-10-26T03:21:28Z MPheno.ontology abnormal X-Y chromosome pairing during male meiosis MP:0011751 abnormal X-Y chromosome synapsis during male meiosis MP:0011751 an anomaly in the process in which the side by side pairing and physical juxtaposition of X and Y chromosomes is created at the metaphase plate, usually resulting in incorrect sex chromosome disjunction MGI:llw2 an anomaly in the process in which forms the structure that holds the X and Y chomosomes together during prophase I of male meiosis and results in exchange of X and Y chromatin during prophase I, or results in exchange of X and Y chromatin outside the chromatin associated with the pseudoautosomal region csmith 2012-10-26T03:37:16Z MPheno.ontology MP:0011752 abnormal X-Y chromosome synaptonemal complex assembly during male meiosis MP:0011752 an anomaly in the process in which forms the structure that holds the X and Y chomosomes together during prophase I of male meiosis and results in exchange of X and Y chromatin during prophase I, or results in exchange of X and Y chromatin outside the chromatin associated with the pseudoautosomal region MGI:llw2 reduced number of the modified epithelial cells of the visceral layer of the Bowman capsule in the renal corpuscle csmith 2012-10-26T04:30:36Z decreased glomerular epithelial cell number decreased glomerular visceral epithelial cell number podocytopenia reduced glomerular epithelial cell number reduced glomerular visceral epithelial cell number reduced podocyte number MPheno.ontology MP:0011753 decreased podocyte number MP:0011753 reduced number of the modified epithelial cells of the visceral layer of the Bowman capsule in the renal corpuscle https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the functionally distinct subtypes of cells (alpha or beta) found on the kidney collecting duct epithelium that regulate acid-base homeostasis and play an important role in the kidney's response to acidosis and alkalosis; alpha-intercalated cells secrete acid whereas beta-intercalated cells secrete base; metabolic acidosis results in the conversion of beta- cells to alpha-intercalated cells giving the kidney a greater ability to secrete protons and return pH to the normal range csmith 2012-10-29T11:58:19Z MPheno.ontology MP:0011754 abnormal kidney collecting duct intercalated cell morphology MP:0011754 any structural anomaly of any of the functionally distinct subtypes of cells (alpha or beta) found on the kidney collecting duct epithelium that regulate acid-base homeostasis and play an important role in the kidney's response to acidosis and alkalosis; alpha-intercalated cells secrete acid whereas beta-intercalated cells secrete base; metabolic acidosis results in the conversion of beta- cells to alpha-intercalated cells giving the kidney a greater ability to secrete protons and return pH to the normal range https://orcid.org/0000-0002-6490-7723 any structural anomaly of the tall, columnar epithelial cells found on the kidney collecting duct epithelium which secrete acid (via an apical H+-ATPase and H+/K+ exchanger) in the form of hydrogen ions and reabsorb bicarbonate (via band 3, a basolateral Cl-/HCO3- exchanger);damage to the alpha-intercalated cell's ability to secrete acid can result in distal renal tubular acidosis csmith 2012-10-29T11:58:19Z abnormal collecting duct alpha-intercalated cells abnormal collecting duct type A intercalated cells abnormal kidney collecting duct A-type intercalated cells MPheno.ontology MP:0011755 abnormal kidney collecting duct alpha-intercalated cell morphology MP:0011755 any structural anomaly of the tall, columnar epithelial cells found on the kidney collecting duct epithelium which secrete acid (via an apical H+-ATPase and H+/K+ exchanger) in the form of hydrogen ions and reabsorb bicarbonate (via band 3, a basolateral Cl-/HCO3- exchanger);damage to the alpha-intercalated cell's ability to secrete acid can result in distal renal tubular acidosis https://orcid.org/0000-0002-6490-7723 any structural anomaly of the shorter, flatter cells found on the kidney collecting duct epithelium which secrete bicarbonate (via pendrin, a specialized apical Cl-/HCO3- exchanger) and reabsorb acid (via a basal H+-ATPase) csmith 2012-10-29T11:58:19Z abnormal collecting duct beta-intercalated cells abnormal collecting duct type B intercalated cells abnormal kidney collecting duct B-type intercalated cells MPheno.ontology MP:0011756 abnormal kidney collecting duct beta-intercalated cell morphology MP:0011756 any structural anomaly of the shorter, flatter cells found on the kidney collecting duct epithelium which secrete bicarbonate (via pendrin, a specialized apical Cl-/HCO3- exchanger) and reabsorb acid (via a basal H+-ATPase) https://orcid.org/0000-0002-6490-7723 any structural abnormality of the cuboidal epithelial cells found in the collecting ducts of the kidney which regulate sodium and potassium balance via channels located on the cells apical membrane. Aldosterone increases the number of Na+/K+-ATPase pumps that allow increased sodium reabsorption and potassium secretion whereas antidiuretic hormone (vasopressin) determines the expression of aquaporin channels on the cell surface; together, aldosterone and vasopressin let the principal cell control the quantity of water that is reabsorbed csmith 2012-10-29T02:32:19Z MPheno.ontology MP:0011757 abnormal kidney collecting duct principal cell morphology MP:0011757 any structural abnormality of the cuboidal epithelial cells found in the collecting ducts of the kidney which regulate sodium and potassium balance via channels located on the cells apical membrane. Aldosterone increases the number of Na+/K+-ATPase pumps that allow increased sodium reabsorption and potassium secretion whereas antidiuretic hormone (vasopressin) determines the expression of aquaporin channels on the cell surface; together, aldosterone and vasopressin let the principal cell control the quantity of water that is reabsorbed https://orcid.org/0000-0002-6490-7723 inadequate blood flow to one or both kidneys, or nephrons, usually due to functional constriction or actual obstruction of a blood vessel; a significant cause of renal dysfunction and cortical and medullary necrosis csmith 2012-10-29T02:34:27Z kidney ischaemia kidney ischemia nephric ischaemia nephric ischemia renal ischaemia MPheno.ontology MP:0011758 renal ischemia MP:0011758 inadequate blood flow to one or both kidneys, or nephrons, usually due to functional constriction or actual obstruction of a blood vessel; a significant cause of renal dysfunction and cortical and medullary necrosis https://orcid.org/0000-0002-6490-7723 absence of the diverticulum arsing from the embryonic buccal cavity from which the anterior lobe of the pituitary gland is developed csmith 2012-10-29T02:36:48Z absent craniobuccal pouch absent craniopharyngeal pouch MPheno.ontology MP:0011759 absent Rathke's pouch MP:0011759 absence of the diverticulum arsing from the embryonic buccal cavity from which the anterior lobe of the pituitary gland is developed https://orcid.org/0000-0002-6490-7723 any structural anomaly of the terminal ends of the ureteric tree; the ureteric tip cells are proliferating immature cells located at the branching points that induce the adjacent cap mesenchyme to undergo nephrogenesis csmith 2012-10-29T03:41:43Z abnormal ureteric ampulla morphology abnormal ureteric tip morphology MPheno.ontology MP:0011760 abnormal ureteric bud tip morphology MP:0011760 any structural anomaly of the terminal ends of the ureteric tree; the ureteric tip cells are proliferating immature cells located at the branching points that induce the adjacent cap mesenchyme to undergo nephrogenesis https://orcid.org/0000-0002-6490-7723 any structural anomaly of the ureteric bud cells that elongate to form a rigid structure (stalk) consisting of polarized epithelial cells without branching; the stalks differentiate into the collecting system of the mature kidney, while the tip cells interact with the adjacent cells of the metanephric mesenchyme, inducing their conversion into nephrons csmith 2012-10-29T03:41:43Z abnormal ureteric bud stalk morphology abnormal ureteric stalk morphology abnormal ureteric trunk morphology MPheno.ontology MP:0011761 abnormal ureteric bud trunk morphology MP:0011761 any structural anomaly of the ureteric bud cells that elongate to form a rigid structure (stalk) consisting of polarized epithelial cells without branching; the stalks differentiate into the collecting system of the mature kidney, while the tip cells interact with the adjacent cells of the metanephric mesenchyme, inducing their conversion into nephrons https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in the renal/urinary system; may involve inflammation of the urethra, urinary bladder, ureters or kidneys csmith 2012-11-01T10:57:04Z urinary tract inflammation MPheno.ontology MP:0011762 renal/urinary system inflammation MP:0011762 local accumulation of fluid, plasma proteins, and leukocytes in the renal/urinary system; may involve inflammation of the urethra, urinary bladder, ureters or kidneys https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in the urethra, usually caused by an infection csmith 2012-11-01T10:58:40Z urethra inflammation urethral inflammation MPheno.ontology MP:0011763 urethritis MP:0011763 local accumulation of fluid, plasma proteins, and leukocytes in the urethra, usually caused by an infection https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in a ureter, usually caused by infection or by the mechanic irritation of a stone; the epithelial reaction may be cystic if the reaction is liquefaction, or glandular if the epithelial reaction is by metaplasia csmith 2012-11-01T10:58:40Z ureter inflammation ureteral inflammation ureteric inflammation MPheno.ontology MP:0011764 ureteritis MP:0011764 local accumulation of fluid, plasma proteins, and leukocytes in a ureter, usually caused by infection or by the mechanic irritation of a stone; the epithelial reaction may be cystic if the reaction is liquefaction, or glandular if the epithelial reaction is by metaplasia https://orcid.org/0000-0002-6490-7723 increased level of orotic acid, an intermediate of pyrimidine synthesis, in the urine csmith 2012-11-01T12:53:53Z increased urine orotic acid level orotic aciduria MPheno.ontology MP:0011765 oroticaciduria MP:0011765 increased level of orotic acid, an intermediate of pyrimidine synthesis, in the urine https://orcid.org/0000-0002-6490-7723 any structural anomaly of the mucous membrane lining the urinary bladder csmith 2012-11-01T01:08:25Z abnormal tunica mucosa vesicae urinariae MPheno.ontology MP:0011766 abnormal urinary bladder mucosa morphology MP:0011766 any structural anomaly of the mucous membrane lining the urinary bladder https://orcid.org/0000-0002-6490-7723 saccular dilation of the terminal portion of the ureter that protrudes into the lumen of the urinary bladder, probably due to a congenital stenosis of the ureteric orifice meatus; most often associated with a duplicated collection system, where two ureters drain their respective kidney instead of one csmith 2012-11-01T01:30:31Z ureterocoele MPheno.ontology MP:0011767 ureterocele MP:0011767 saccular dilation of the terminal portion of the ureter that protrudes into the lumen of the urinary bladder, probably due to a congenital stenosis of the ureteric orifice meatus; most often associated with a duplicated collection system, where two ureters drain their respective kidney instead of one https://orcid.org/0000-0002-6490-7723 any structural anomaly of the smooth triangular region of the wall of the urinary bladder formed by the two ureteral orifices and the internal urethral orifice; it is an area in which the muscle fibers are closely adherent to the mucosa csmith 2012-11-01T01:35:50Z abnormal trigone of urinary bladder abnormal vesical trigone morphology MPheno.ontology MP:0011768 abnormal urinary bladder trigone morphology MP:0011768 any structural anomaly of the smooth triangular region of the wall of the urinary bladder formed by the two ureteral orifices and the internal urethral orifice; it is an area in which the muscle fibers are closely adherent to the mucosa https://orcid.org/0000-0002-6490-7723 invasion of fibrous connective tissue into the urinary bladder, often resulting from inflammation or injury csmith 2012-11-01T01:37:40Z MPheno.ontology MP:0011769 urinary bladder fibrosis MP:0011769 invasion of fibrous connective tissue into the urinary bladder, often resulting from inflammation or injury https://orcid.org/0000-0002-6490-7723 greater than normal amount of selenium in the urine csmith 2012-11-01T02:08:10Z increased urinary selenium excretion MPheno.ontology MP:0011770 increased urine selenium level MP:0011770 greater than normal amount of selenium in the urine https://orcid.org/0000-0002-6490-7723 any structural anomaly of the embryonic anlage of the external genitalia, which emerges as paired swellings ventral to the cloacal membrane, is proposed to be derived from all three germ layers, and gives rise to the penis, clitoris, scrotum, labia, and foreskin; GT development is indistinguishable in male and female mouse embryos until approximately E16, when the urethral plate begins to be masculinized to form the penile urethra, marking the beginning of an androgen-dependent phase of sexual differentiation csmith 2012-11-01T02:14:18Z abnormal phallic tubercle morphology MPheno.ontology MP:0011771 abnormal genital tubercle morphology MP:0011771 any structural anomaly of the embryonic anlage of the external genitalia, which emerges as paired swellings ventral to the cloacal membrane, is proposed to be derived from all three germ layers, and gives rise to the penis, clitoris, scrotum, labia, and foreskin; GT development is indistinguishable in male and female mouse embryos until approximately E16, when the urethral plate begins to be masculinized to form the penile urethra, marking the beginning of an androgen-dependent phase of sexual differentiation https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the genital tubercle, typically resulting in decreased size csmith 2012-11-01T02:15:21Z hypoplastic genital tubercle phallic tubercle hypoplasia MPheno.ontology MP:0011772 genital tubercle hypoplasia MP:0011772 decrease in the number of normal cells in normal arrangement in the genital tubercle, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the network of tubes that carries blood through the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys csmith 2012-11-01T02:37:24Z abnormal urinary bladder blood vessel morphology abnormal vesical vasculature bladder vasculature abnormalities MPheno.ontology MP:0011773 abnormal urinary bladder vasculature morphology MP:0011773 any structural anomaly of the network of tubes that carries blood through the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys https://orcid.org/0000-0002-6490-7723 any structural anomaly of the bundles of smooth muscle fibers forming the muscular wall of the urinary bladder, which are arranged in a longitudinal and a circular layer and, on contraction, serve to expel urine csmith 2012-11-01T02:41:16Z abnormal detrusor muscle morphology abnormal detrusor urinae morphology abnormal musculus detrusor vesicae abnormal urinary bladder smooth muscle morphology MPheno.ontology MP:0011774 abnormal urinary bladder detrusor smooth muscle morphology MP:0011774 any structural anomaly of the bundles of smooth muscle fibers forming the muscular wall of the urinary bladder, which are arranged in a longitudinal and a circular layer and, on contraction, serve to expel urine https://orcid.org/0000-0002-6490-7723 congenital absence, closure, or constriction of the lumen of the terminal portion of the intestinal tube adjacent to the anus, leading to abdominal distention after birth csmith 2012-11-01T02:53:34Z atresia recti imperforate rectum rectum atresia MPheno.ontology MP:0011775 rectal atresia MP:0011775 congenital absence, closure, or constriction of the lumen of the terminal portion of the intestinal tube adjacent to the anus, leading to abdominal distention after birth https://orcid.org/0000-0002-6490-7723 any structural anomaly of the male fibromuscular tubular canal which extends from the internal urethral orifice in the urinary bladder to the external urethral orifice at the tip of the penis and provides an exit for urine as well as semen during ejaculation; the male urethra is longer than the urethra of females and comprises three major portions, the (i) prostatic, (ii) membranous (aka intermediate), and (iii) cavernous (aka spongy or penile) csmith 2012-11-15T02:41:24Z abnormal urethra masculina morphology abnormal urethra virilis morphology MPheno.ontology MP:0011776 abnormal male urethra morphology MP:0011776 any structural anomaly of the male fibromuscular tubular canal which extends from the internal urethral orifice in the urinary bladder to the external urethral orifice at the tip of the penis and provides an exit for urine as well as semen during ejaculation; the male urethra is longer than the urethra of females and comprises three major portions, the (i) prostatic, (ii) membranous (aka intermediate), and (iii) cavernous (aka spongy or penile) https://orcid.org/0000-0002-6490-7723 any structural anomaly of the widest and most dilatable part of the male urethra canal which runs almost vertically through the prostate from its base to its apex, lying nearer its anterior than its posterior surface; this portion of the urethral canal is spindle-shaped, being wider in the middle than at either extremity, and narrowest below, where it joins the membranous portion; it is lined by transitional epithelium and contains in its posterior wall, or floor, the orifices of the prostatic utricle, ejaculatory ducts, and prostatic ducts, collectively known as the seminal colliculus (aka verumontanum) csmith 2012-11-15T02:41:24Z abnormal pars prostatica urethrae morphology abnormal prostatic part of male urethra MPheno.ontology MP:0011777 abnormal male prostatic urethra morphology MP:0011777 any structural anomaly of the widest and most dilatable part of the male urethra canal which runs almost vertically through the prostate from its base to its apex, lying nearer its anterior than its posterior surface; this portion of the urethral canal is spindle-shaped, being wider in the middle than at either extremity, and narrowest below, where it joins the membranous portion; it is lined by transitional epithelium and contains in its posterior wall, or floor, the orifices of the prostatic utricle, ejaculatory ducts, and prostatic ducts, collectively known as the seminal colliculus (aka verumontanum) https://orcid.org/0000-0002-6490-7723 any structural anomaly of the shortest, least dilatable, and, with the exception of the external orifice, the narrowest part of the male urethral canal located in the deep perineal pouch and lined by pseudostratified columnar epithelium; it extends downward and forward, with a slight anterior concavity, between the apex of the prostate and the bulb of the urethra, perforating the urogenital diaphragm below and behind the pubic symphysis; the membranous portion of the urethra is completely surrounded by the fibers of the sphincter urethrae membranaceae; on either side near its termination are the bulbourethral glands csmith 2012-11-15T02:41:24Z abnormal intermediate part of male urethra abnormal pars intermedia urethrae morphology abnormal pars membranacea urethrae morphology MPheno.ontology MP:0011778 abnormal male membranous urethra morphology MP:0011778 any structural anomaly of the shortest, least dilatable, and, with the exception of the external orifice, the narrowest part of the male urethral canal located in the deep perineal pouch and lined by pseudostratified columnar epithelium; it extends downward and forward, with a slight anterior concavity, between the apex of the prostate and the bulb of the urethra, perforating the urogenital diaphragm below and behind the pubic symphysis; the membranous portion of the urethra is completely surrounded by the fibers of the sphincter urethrae membranaceae; on either side near its termination are the bulbourethral glands https://orcid.org/0000-0002-6490-7723 any structural anomaly of the that longest part of the male urethra contained in the corpus spongiosum and extending from the end of the membranous portion to the external urethral orifice; commencing below the inferior fascia of the urogenital diaphragm it passes forward and upward to the front of the symphysis pubis; and then, in the flaccid condition of the penis, it bends downward and forward; while narrow and of uniform size in the body of the penis, it is dilated behind, within the bulb, and again anteriorly within the glans penis, where it forms the fossa navicularis urethrae; the spongy urethra is lined by pseudostratified columnar epithelium proximally, and by stratified squamous epithelium distally csmith 2012-11-15T02:41:24Z abnormal cavernous portion of male urethra abnormal pars cavernosa urethrae morphology abnormal pars spongiosa urethrae masculinae morphology abnormal penile urethra morphology abnormal spongiose urethra morphology MPheno.ontology MP:0011779 abnormal male spongy urethra morphology MP:0011779 any structural anomaly of the that longest part of the male urethra contained in the corpus spongiosum and extending from the end of the membranous portion to the external urethral orifice; commencing below the inferior fascia of the urogenital diaphragm it passes forward and upward to the front of the symphysis pubis; and then, in the flaccid condition of the penis, it bends downward and forward; while narrow and of uniform size in the body of the penis, it is dilated behind, within the bulb, and again anteriorly within the glans penis, where it forms the fossa navicularis urethrae; the spongy urethra is lined by pseudostratified columnar epithelium proximally, and by stratified squamous epithelium distally https://orcid.org/0000-0002-6490-7723 any structural anomaly of the short and relatively simple female fibromuscular tubular canal which extends from the urinary bladder outlet to the perineum adjacent to the anterior wall of the vagina, and opens in the vestibule of the vagina posterior to the clitoris and anterior to the vaginal orifice; small mucus urethral glands (Skene's glands) open along its entire length and drain into a single paraurethral duct, which empties at the lateral margin of the external urethral orifice: its epithelial lining changes from transitional epithelium at the bladder end to non-keratinizing stratified squamous epithelium distally csmith 2012-11-15T02:41:24Z abnormal urethra feminina morphology abnormal urethra muliebris morphology MPheno.ontology MP:0011780 abnormal female urethra morphology MP:0011780 any structural anomaly of the short and relatively simple female fibromuscular tubular canal which extends from the urinary bladder outlet to the perineum adjacent to the anterior wall of the vagina, and opens in the vestibule of the vagina posterior to the clitoris and anterior to the vaginal orifice; small mucus urethral glands (Skene's glands) open along its entire length and drain into a single paraurethral duct, which empties at the lateral margin of the external urethral orifice: its epithelial lining changes from transitional epithelium at the bladder end to non-keratinizing stratified squamous epithelium distally https://orcid.org/0000-0002-6490-7723 any functional anomaly of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, which produce a clear, salty, viscous secretion known as pre-ejaculate (aka as pre-ejaculatory fluid, preseminal fluid, or Cowper's fluid) upon sexual stimulation; this fluid is believed to lubricate the urethra for spermatozoa to pass through and neutralize traces of acidic urine in the urethra csmith 2012-11-15T02:53:25Z abnormal Cowper's gland physiology abnormal Mery gland physiology abnormal bulbo-urethral gland physiology abnormal glandula bulbourethralis physiology MPheno.ontology MP:0011781 abnormal bulbourethral gland physiology MP:0011781 any functional anomaly of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, which produce a clear, salty, viscous secretion known as pre-ejaculate (aka as pre-ejaculatory fluid, preseminal fluid, or Cowper's fluid) upon sexual stimulation; this fluid is believed to lubricate the urethra for spermatozoa to pass through and neutralize traces of acidic urine in the urethra https://orcid.org/0000-0002-6490-7723 any structural anomaly of the usually crescent-shaped opening of the urinary bladder into the urethra, placed at the anteroinferior angle (apex) of the urinary bladder trigone csmith 2012-11-15T03:00:31Z abnormal internal urethral ostium morphology abnormal internal urinary meatus morphology abnormal orificium urethrae internum morphology abnormal ostium urethrae internum morphology abnormal urethral opening morphology MPheno.ontology MP:0011782 abnormal internal urethral orifice morphology MP:0011782 any structural anomaly of the usually crescent-shaped opening of the urinary bladder into the urethra, placed at the anteroinferior angle (apex) of the urinary bladder trigone https://orcid.org/0000-0002-6490-7723 any structural anomaly of the slit-like opening of either ureter into the bladder; normally, the two ureteral orifices are placed at the posterolateral angles of the urinary bladder trigone while the internal urethral orifice is placed at its anteroinferior angle (apex); wide gaping usually indicates vesicoureteral reflux csmith 2012-11-15T03:05:54Z abnormal orificium ureteris morphology abnormal ostium ureteris morphology abnormal ureteral meatus morphology abnormal ureteral opening morphology abnormal ureteric orifice morphology abnormal ureterovesical orifice morphology MPheno.ontology MP:0011783 abnormal ureteral orifice morphology MP:0011783 any structural anomaly of the slit-like opening of either ureter into the bladder; normally, the two ureteral orifices are placed at the posterolateral angles of the urinary bladder trigone while the internal urethral orifice is placed at its anteroinferior angle (apex); wide gaping usually indicates vesicoureteral reflux https://orcid.org/0000-0002-6490-7723 any structural anomaly of the constricted portion of the urinary bladder, formed by the meeting of its inferolateral surfaces proximal to the opening of the urethra csmith 2012-11-15T03:09:34Z abnormal cervix vesicae morphology abnormal collum vesicae morphology abnormal vesical neck morphology MPheno.ontology MP:0011784 abnormal urinary bladder neck morphology MP:0011784 any structural anomaly of the constricted portion of the urinary bladder, formed by the meeting of its inferolateral surfaces proximal to the opening of the urethra https://orcid.org/0000-0002-6490-7723 any structural anomaly of the base or posterior surface of the urinary bladder, which contains the trigone of the bladder and the outlet where urine empties through the internal urethral orifice csmith 2012-11-15T03:11:19Z abnormal fundus vesicae morphology abnormal urinary bladder base morphology MPheno.ontology MP:0011785 abnormal urinary bladder fundus morphology MP:0011785 any structural anomaly of the base or posterior surface of the urinary bladder, which contains the trigone of the bladder and the outlet where urine empties through the internal urethral orifice https://orcid.org/0000-0002-6490-7723 an abnormal anatomical passage connecting the urethra and the rectum csmith 2012-11-15T03:13:52Z recto-urethral fistula urethro-rectal fistula urethrorectal fistula MPheno.ontology MP:0011786 rectourethral fistula MP:0011786 an abnormal anatomical passage connecting the urethra and the rectum https://orcid.org/0000-0002-6490-7723 any structural anomaly of the paired glands located slightly posterior and to the left and right of the opening of the vagina in the superficial perineal pouch in females; they secrete mucus to lubricate the vagina and are homologous to bulbourethral (Cowper's) glands in males csmith 2012-11-15T03:44:43Z abnormal Bartholin gland morphology abnormal Duverney gland morphology abnormal Tiedemann's gland morphology abnormal glandula vestibularis major morphology abnormal greater vestibular gland morphology abnormal major vestibular gland morphology abnormal vulvovaginal gland morphology MPheno.ontology MP:0011787 abnormal Bartholin's gland morphology MP:0011787 any structural anomaly of the paired glands located slightly posterior and to the left and right of the opening of the vagina in the superficial perineal pouch in females; they secrete mucus to lubricate the vagina and are homologous to bulbourethral (Cowper's) glands in males https://orcid.org/0000-0002-6490-7723 absence or failure to form of any part of the male or female urethra csmith 2012-11-15T03:48:21Z urethral agenesis MPheno.ontology MP:0011788 absent urethra MP:0011788 absence or failure to form of any part of the male or female urethra https://orcid.org/0000-0002-6490-7723 greater than the expected number of malignant neoplasms arising from the epithelial lining of the urethra in a given population in a given time period csmith 2012-11-15T03:50:50Z increased urethral carcinoma incidence MPheno.ontology MP:0011789 increased urethra carcinoma incidence MP:0011789 greater than the expected number of malignant neoplasms arising from the epithelial lining of the urethra in a given population in a given time period https://orcid.org/0000-0002-6490-7723 greater than the expected number of malignant neoplasms arising from urothelial lining or surrounding glands of the urethra in a given population in a given time period csmith 2012-11-15T03:50:50Z MPheno.ontology MP:0011790 increased urethral gland adenocarcinoma incidence MP:0011790 greater than the expected number of malignant neoplasms arising from urothelial lining or surrounding glands of the urethra in a given population in a given time period https://orcid.org/0000-0002-6490-7723 greater than the expected number of malignant neoplasm of epithelial cells in the bulbourethral glands, usually with a glandular organization in a given population in a given time period csmith 2012-11-15T03:50:50Z increased adenocarcinoma of Cowper's gland incidence MPheno.ontology MP:0011791 increased bulbourethral gland adenocarcinoma incidence MP:0011791 greater than the expected number of malignant neoplasm of epithelial cells in the bulbourethral glands, usually with a glandular organization in a given population in a given time period https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the numerous small mucous-secreting glands located in the wall of the male or female urethra that help protect the epithelium from the corrosive urine csmith 2012-11-15T04:00:10Z MPheno.ontology MP:0011792 abnormal urethral gland morphology MP:0011792 any structural anomaly of any of the numerous small mucous-secreting glands located in the wall of the male or female urethra that help protect the epithelium from the corrosive urine https://orcid.org/0000-0002-6490-7723 any structural anomaly of the numerous mucous-secreting glands found in several female mammalian species (including rodents and humans) on the anterior wall of the vagina, around the lower end of the urethra, and possessing a common paraurethral duct which opens (on each side) near the external urethral orifice; they are homologous with the prostate gland in males, have highly variable anatomy, and are believed to be the source of the female ejaculate, a lubricating fluid with a similar consistency to male prostatic fluid that is expelled through the urethra during sexual stimulation; like the male prostate, these glands are susceptible to infection (skenitis), cyst development, and cancer csmith 2012-11-15T04:00:52Z abnormal glands of the female urethra abnormal glandulae urethrales femininae abnormal Guerin gland morphology abnormal Schueller's gland morphology abnormal Skene gland morphology abnormal Skene's gland morphology abnormal U-spot morphology abnormal female prostate morphology abnormal glandula vestibulares minor morphology abnormal lesser vestibular gland morphology abnormal para-urethral gland morphology abnormal paraurethral gland morphology abnormal periurethral gland morphology MPheno.ontology MP:0011793 abnormal female urethral gland morphology MP:0011793 any structural anomaly of the numerous mucous-secreting glands found in several female mammalian species (including rodents and humans) on the anterior wall of the vagina, around the lower end of the urethra, and possessing a common paraurethral duct which opens (on each side) near the external urethral orifice; they are homologous with the prostate gland in males, have highly variable anatomy, and are believed to be the source of the female ejaculate, a lubricating fluid with a similar consistency to male prostatic fluid that is expelled through the urethra during sexual stimulation; like the male prostate, these glands are susceptible to infection (skenitis), cyst development, and cancer https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the numerous small mucous-secreting glands located in the wall of the penile urethra csmith 2012-11-15T04:00:52Z abnormal glands of the male urethra abnormal Littre glands morphology abnormal glandulae urethrales masculinae MPheno.ontology MP:0011794 abnormal male urethral gland morphology MP:0011794 any structural anomaly of any of the numerous small mucous-secreting glands located in the wall of the penile urethra https://orcid.org/0000-0002-6490-7723 incomplete or aberrant differentiation of the distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion csmith 2012-11-15T04:04:12Z abnormal cystis urinaria development abnormal urocyst development abnormal urocystis development abnormal vesica development abnormal vesica urinaria development urinary bladder dysgenesis urinary bladder malformation MPheno.ontology MP:0011795 abnormal urinary bladder development MP:0011795 incomplete or aberrant differentiation of the distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion https://orcid.org/0000-0002-6490-7723 any structural anomaly of the external opening or orifice of the urethra through which urine and seminal fluid (in males only) leave the body; in males the meatus presents as a vertical slit normally positioned at the tip of glans penis; in females the meatus is located either within the clitoris or between the clitoris and the vagina in the vulvular vestibule of the female genitalia, depending on the species csmith 2012-11-15T04:12:05Z abnormal external urethral ostium morphology abnormal external urinary meatus morphology abnormal meatus urinarius morphology abnormal orificium urethrae externum morphology abnormal ostium urethrae externum morphology abnormal urinary meatus morphology MPheno.ontology MP:0011796 abnormal external urethral orifice morphology MP:0011796 any structural anomaly of the external opening or orifice of the urethra through which urine and seminal fluid (in males only) leave the body; in males the meatus presents as a vertical slit normally positioned at the tip of glans penis; in females the meatus is located either within the clitoris or between the clitoris and the vagina in the vulvular vestibule of the female genitalia, depending on the species EMAPA:36453 a ureter ending in a blind-ended segment or pouch csmith 2012-11-15T04:19:31Z blind-ended ureter blind-ending ureter MPheno.ontology MP:0011797 blind ureter MP:0011797 a ureter ending in a blind-ended segment or pouch https://orcid.org/0000-0002-6490-7723 anomaly in the average weight of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys compared to controls csmith 2012-11-15T04:20:49Z MPheno.ontology MP:0011798 abnormal urinary bladder weight MP:0011798 anomaly in the average weight of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys compared to controls https://orcid.org/0000-0002-6490-7723 greater than average weight of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys compared to controls csmith 2012-11-15T04:21:19Z MPheno.ontology MP:0011799 increased urinary bladder weight MP:0011799 greater than average weight of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys compared to controls https://orcid.org/0000-0002-6490-7723 less than average weight of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys compared to controls csmith 2012-11-15T04:21:40Z reduced urinary bladder weight MPheno.ontology MP:0011800 decreased urinary bladder weight MP:0011800 less than average weight of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys compared to controls https://orcid.org/0000-0002-6490-7723 any impediment or blockage of the canal through which urine is discharged from the bladder in most mammals and through which semen is discharged in the male; usually caused by calculus, or plugs composed of proteinaceous material, cellular debris and possibly crystals csmith 2012-11-15T04:23:17Z urethral obstruction urethral plug MPheno.ontology MP:0011801 urethra obstruction MP:0011801 any impediment or blockage of the canal through which urine is discharged from the bladder in most mammals and through which semen is discharged in the male; usually caused by calculus, or plugs composed of proteinaceous material, cellular debris and possibly crystals https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in the seminal vesicle(s), usually caused by an infection csmith 2012-11-15T04:26:55Z gonecystitis inflamed seminal gland inflamed seminal glands inflamed seminal vesicle inflamed seminal vesicles seminal gland inflammation seminal vesicle inflammation MPheno.ontology MP:0011802 seminal vesiculitis MP:0011802 local accumulation of fluid, plasma proteins, and leukocytes in the seminal vesicle(s), usually caused by an infection https://orcid.org/0000-0002-6490-7723 duplication of the funnel shaped proximal portion of the ureter that is formed by convergence of the major calices csmith 2012-11-15T04:29:19Z double pyelum double renal pelvis duplex pyelum duplicated pyelum duplication of renal pelvis MPheno.ontology MP:0011803 double kidney pelvis MP:0011803 duplication of the funnel shaped proximal portion of the ureter that is formed by convergence of the major calices https://orcid.org/0000-0002-6490-7723 increased or faster movement of cells from one site to another, often occurring during developmental or chemotactic processes csmith 2012-11-16T10:14:05Z MPheno.ontology MP:0011804 increased cell migration MP:0011804 increased or faster movement of cells from one site to another, often occurring during developmental or chemotactic processes GO:0016477 https://orcid.org/0000-0003-3691-0324 reduced or slower movement of cells from one site to another, often occurring during developmental or chemotactic processes csmith 2012-11-16T10:14:05Z reduced cell migration MPheno.ontology MP:0011805 decreased cell migration MP:0011805 reduced or slower movement of cells from one site to another, often occurring during developmental or chemotactic processes GO:0016477 https://orcid.org/0000-0003-3691-0324 reduction in the expansion rate of a dermal fibroblast cell population by cell division csmith 2012-11-16T10:19:09Z MPheno.ontology MP:0011806 decreased dermal fibroblast proliferation MP:0011806 reduction in the expansion rate of a dermal fibroblast cell population by cell division https://orcid.org/0000-0003-3691-0324 reduction in the expansion rate of a lung fibroblast cell population by cell division csmith 2012-11-16T10:20:12Z MPheno.ontology MP:0011807 decreased lung fibroblast proliferation MP:0011807 reduction in the expansion rate of a lung fibroblast cell population by cell division https://orcid.org/0000-0003-3691-0324 anomaly in the process in which a relatively unspecialized cell acquires specialized features of a myoblast, a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers csmith 2012-11-16T10:23:14Z abnormal myoblast cell differentiation MPheno.ontology MP:0011808 abnormal myoblast differentiation MP:0011808 anomaly in the process in which a relatively unspecialized cell acquires specialized features of a myoblast, a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers GO:0045445 anomaly in the apoptosis response triggered by inadequate or inappropriate adherence to substrate e.g. after disruption of the interactions between normal epithelial cells and the extracellular matrix csmith 2012-11-16T10:50:45Z abnormal detachment induced cell death abnormal suspension induced apoptosis MPheno.ontology MP:0011809 abnormal anoikis MP:0011809 anomaly in the apoptosis response triggered by inadequate or inappropriate adherence to substrate e.g. after disruption of the interactions between normal epithelial cells and the extracellular matrix GO:0043276 increase in the apoptosis response triggered by inadequate or inappropriate adherence to substrate e.g. after disruption of the interactions between normal epithelial cells and the extracellular matrix csmith 2012-11-16T10:53:17Z MPheno.ontology MP:0011810 increased anoikis MP:0011810 increase in the apoptosis response triggered by inadequate or inappropriate adherence to substrate e.g. after disruption of the interactions between normal epithelial cells and the extracellular matrix GO:0043276 reduction in the apoptosis response triggered by inadequate or inappropriate adherence to substrate e.g. after disruption of the interactions between normal epithelial cells and the extracellular matrix csmith 2012-11-16T10:53:17Z reduced anoikis MPheno.ontology MP:0011811 decreased anoikis MP:0011811 reduction in the apoptosis response triggered by inadequate or inappropriate adherence to substrate e.g. after disruption of the interactions between normal epithelial cells and the extracellular matrix GO:0043276 having an increased dorsal-to-ventral distance of the cranium csmith 2012-11-16T12:14:30Z MPheno.ontology MP:0011812 increased cranium length MP:0011812 having an increased dorsal-to-ventral distance of the cranium MGI:mberry increased length of the upper jaw bone csmith 2012-11-16T12:16:36Z increased maxilla length MPheno.ontology MP:0011813 long maxilla MP:0011813 increased length of the upper jaw bone MGI:mberry any structural anomaly of a pro-B cell that CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative. This cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive csmith 2012-11-16T12:46:55Z abnormal Fraction A pre-pro B cell morphology MPheno.ontology MP:0011814 abnormal pre-pro B cell morphology MP:0011814 any structural anomaly of a pro-B cell that CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative. This cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive CL:0002045 increased number of pro-B cells that are CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative; this cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive csmith 2012-11-16T12:50:14Z MPheno.ontology MP:0011815 increased pre-pro B cell number MP:0011815 increased number of pro-B cells that are CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative; this cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive CL:0002045 https://orcid.org/0000-0003-3691-0324 reduced number of pro-B cells that are CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative; this cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive csmith 2012-11-16T12:50:14Z reduced pre-pro B cell number MPheno.ontology MP:0011816 decreased pre-pro B cell number MP:0011816 reduced number of pro-B cells that are CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative; this cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive CL:0002045 https://orcid.org/0000-0003-3691-0324 absence of pro-B cells that are CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative; this cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive csmith 2012-11-16T12:50:24Z MPheno.ontology MP:0011817 absent pre-pro B cells MP:0011817 absence of pro-B cells that are CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative; this cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive CL:0002045 https://orcid.org/0000-0003-3691-0324 anomaly in the ability of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas to undergo expansion by cell division csmith 2012-11-16T01:18:26Z MPheno.ontology MP:0011818 abnormal pancreatic beta cell proliferation MP:0011818 anomaly in the ability of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas to undergo expansion by cell division CL:0000169 https://orcid.org/0000-0003-3691-0324 increase in the ability of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas to undergo expansion by cell division csmith 2012-11-16T01:25:35Z MPheno.ontology MP:0011819 increased pancreatic beta cell proliferation MP:0011819 increase in the ability of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas to undergo expansion by cell division CL:0000169 reduction in the ability of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas to undergo expansion by cell division csmith 2012-11-16T01:25:35Z reduced pancreatic beta cell proliferation MPheno.ontology MP:0011820 decreased pancreatic beta cell proliferation MP:0011820 reduction in the ability of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas to undergo expansion by cell division CL:0000169 anomaly in the ability of the CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high, to undergo expansion by cell division csmith 2012-11-16T01:34:52Z MPheno.ontology MP:0011821 abnormal CD8-positive, alpha-beta memory T cell proliferation MP:0011821 anomaly in the ability of the CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high, to undergo expansion by cell division CL:0000909 increase in the ability of the a CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high, to undergo expansion by cell division csmith 2012-11-16T01:36:08Z MPheno.ontology MP:0011822 increased CD8-positive, alpha-beta memory T cell proliferation MP:0011822 increase in the ability of the a CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high, to undergo expansion by cell division CL:0000909 reduction in the ability of the a CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high, to undergo expansion by cell division csmith 2012-11-16T01:36:08Z reduced CD8-positive, alpha-beta memory T cell proliferation MPheno.ontology MP:0011823 decreased CD8-positive, alpha-beta memory T cell proliferation MP:0011823 reduction in the ability of the a CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high, to undergo expansion by cell division CL:0000909 increase in the directed movement response of a motile cell guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) csmith 2012-11-16T01:44:31Z MPheno.ontology MP:0011824 increased cell chemotaxis MP:0011824 increase in the directed movement response of a motile cell guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) https://orcid.org/0000-0003-3691-0324 reduction in the directed movement response of a motile cell guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) csmith 2012-11-16T01:44:49Z reduced cell chemotaxis MPheno.ontology MP:0011825 decreased cell chemotaxis MP:0011825 reduction in the directed movement response of a motile cell guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) https://orcid.org/0000-0003-3691-0324 any anomaly in the directed movement of a lymphocyte in response to an external stimulus csmith 2012-11-16T01:51:42Z MPheno.ontology MP:0011826 abnormal lymphocyte chemotaxis MP:0011826 any anomaly in the directed movement of a lymphocyte in response to an external stimulus GO:0048247 decreased production of or inability to produce the mature cells of the nervous system that receive, conduct, and transmit impulses csmith 2012-11-16T01:56:36Z MPheno.ontology MP:0011827 impaired neuron differentiation MP:0011827 decreased production of or inability to produce the mature cells of the nervous system that receive, conduct, and transmit impulses https://orcid.org/0000-0003-3691-0324 presence of one or more abnormal membranous sacs, usually filled with a fluid or viscous substance, along the internal lining of the urinary bladder csmith 2012-11-16T02:56:30Z bladder cyst bladder cysts cystic bladder cystic urinary bladder urinary bladder cysts MPheno.ontology MP:0011828 urinary bladder cyst MP:0011828 presence of one or more abnormal membranous sacs, usually filled with a fluid or viscous substance, along the internal lining of the urinary bladder https://orcid.org/0000-0002-6490-7723 an abnormal fistulous tract extending between the bladder and the vagina, with resulting leakage of urine into the vaginal cavity csmith 2012-11-16T03:00:44Z MPheno.ontology MP:0011829 vesicovaginal fistula MP:0011829 an abnormal fistulous tract extending between the bladder and the vagina, with resulting leakage of urine into the vaginal cavity https://orcid.org/0000-0002-6490-7723 any aberration in normal location of pigment granules in the hair follicle that results in variation from expected hair color csmith 2012-11-16T03:04:36Z MPheno.ontology MP:0011830 ectopic hair follicle melanin granules MP:0011830 any aberration in normal location of pigment granules in the hair follicle that results in variation from expected hair color MGI:llw2 any abnormality in the ability to distinguish between increments of light versus dark csmith 2012-11-16T03:50:13Z MPheno.ontology MP:0011831 abnormal visual contrast sensitivity MP:0011831 any abnormality in the ability to distinguish between increments of light versus dark https://orcid.org/0000-0003-4606-0597 any abnormality in the spatial resolution or resolving power of the visual processing system csmith 2012-11-16T03:51:48Z abnormal clarity of vision abnormal sharpness of vision MPheno.ontology MP:0011832 abnormal visual acuity MP:0011832 any abnormality in the spatial resolution or resolving power of the visual processing system https://orcid.org/0000-0003-4606-0597 any structural anomaly of the thin layer of skeletal muscle that envelops the spermatic cord and testis of most male mammals in a series of loops; it is a continuation of the obliquus internus, arising from the inguinal ligament and inserting into the crest of the pubis and into the sheath of the rectus abdominis; it is innervated by the genital branch of the genitofemoral nerve and functions to draw the testis up toward the superficial inguinal ring in response to cold or to stimulation of the nerve; in females it is represented by only a few muscle loops that envelop the round ligament of the uterus csmith 2012-11-30T02:55:12Z abnormal cremaster morphology MPheno.ontology MP:0011833 In rats, it has been shown that cremaster muscles develop from the gubernacular bulb. abnormal cremaster muscle morphology MP:0011833 any structural anomaly of the thin layer of skeletal muscle that envelops the spermatic cord and testis of most male mammals in a series of loops; it is a continuation of the obliquus internus, arising from the inguinal ligament and inserting into the crest of the pubis and into the sheath of the rectus abdominis; it is innervated by the genital branch of the genitofemoral nerve and functions to draw the testis up toward the superficial inguinal ring in response to cold or to stimulation of the nerve; in females it is represented by only a few muscle loops that envelop the round ligament of the uterus https://orcid.org/0000-0002-6490-7723 any structural anomaly of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attractivity; unlike other sebaceous glands, they undergo progressive atrophy of the glandular portion with marked ductal ectasia as rodents age; there is no true anatomical equivalent in humans csmith 2012-11-30T02:58:33Z abnormal clitoral gland morphology MPheno.ontology MP:0011834 abnormal female preputial gland morphology MP:0011834 any structural anomaly of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attractivity; unlike other sebaceous glands, they undergo progressive atrophy of the glandular portion with marked ductal ectasia as rodents age; there is no true anatomical equivalent in humans https://orcid.org/0000-0002-6490-7723 any structural anomaly of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora csmith 2012-11-30T03:18:00Z abnormal urethral fold morphology abnormal urogenital ridge morphology MPheno.ontology MP:0011835 abnormal urogenital fold morphology MP:0011835 any structural anomaly of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora https://orcid.org/0000-0002-6490-7723 any structural anomaly of the pair of mesenchymal swellings (folds) located on either side of the cloacal membrane during the indifferent stage of embryonic development; cranial to the cloacal membrane the folds unite to form the genital tubercle; caudally the folds are subdivided into urogenital folds anteriorly and anal folds posteriorly csmith 2012-11-30T03:20:12Z MPheno.ontology MP:0011836 abnormal cloacal fold morphology MP:0011836 any structural anomaly of the pair of mesenchymal swellings (folds) located on either side of the cloacal membrane during the indifferent stage of embryonic development; cranial to the cloacal membrane the folds unite to form the genital tubercle; caudally the folds are subdivided into urogenital folds anteriorly and anal folds posteriorly https://orcid.org/0000-0002-6490-7723 any structural anomaly of the membrane that covers the embryonic cloaca, formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm; the urorectal septum joins the cloacal membrane and divides it into an anal membrane and a urogenital membrane; the point where the urorectal septum intersects the cloacal membrane is the future site of the perineal body; proliferation of mesoderm and ectoderm around the cloacal membrane produces primordial tissues of the external genitalia in both sexes: the genital tubercle, genital folds, and genital swellings csmith 2012-11-30T03:21:45Z MPheno.ontology abnormal membrana cloacalis morphology MP:0011837 abnormal cloacal membrane morphology MP:0011837 any structural anomaly of the membrane that covers the embryonic cloaca, formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm; the urorectal septum joins the cloacal membrane and divides it into an anal membrane and a urogenital membrane; the point where the urorectal septum intersects the cloacal membrane is the future site of the perineal body; proliferation of mesoderm and ectoderm around the cloacal membrane produces primordial tissues of the external genitalia in both sexes: the genital tubercle, genital folds, and genital swellings https://orcid.org/0000-0002-6490-7723 any structural anomaly of the dilated terminal portion of the male spongy urethra located in the glans penis right before the external urethral orifice, also referred to as the most distal pendulous urethra; it is lined by stratified squamous, non-keratinizing epithelium; during development, the glans of the penis is initially solid but cannulates to give rise to the navicular fossa csmith 2012-11-30T03:32:00Z abnormal fossa navicularis urethrae morphology abnormal navicular fossa of male urethra MPheno.ontology MP:0011838 abnormal navicular fossa morphology MP:0011838 any structural anomaly of the dilated terminal portion of the male spongy urethra located in the glans penis right before the external urethral orifice, also referred to as the most distal pendulous urethra; it is lined by stratified squamous, non-keratinizing epithelium; during development, the glans of the penis is initially solid but cannulates to give rise to the navicular fossa https://orcid.org/0000-0002-6490-7723 any structural anomaly of the fold or valve of mucus membrane on the upper wall of the navicuar fossa csmith 2012-11-30T03:33:07Z abnormal Guerin's valvule morphology abnormal urethral valve of Guerin abnormal valvula fossae navicularis MPheno.ontology MP:0011839 abnormal Guerin's valve morphology MP:0011839 any structural anomaly of the fold or valve of mucus membrane on the upper wall of the navicuar fossa https://orcid.org/0000-0002-6490-7723 any structural anomaly of the longitudinal mucosal fold in the dorsal wall of the urethra csmith 2012-11-30T03:36:23Z abnormal crista urethralis morphology MPheno.ontology MP:0011840 abnormal urethral crest morphology MP:0011840 any structural anomaly of the longitudinal mucosal fold in the dorsal wall of the urethra https://orcid.org/0000-0002-6490-7723 any structural anomaly of the narrow longitudinal fold of mucosa on the posterior wall of the male urethra, extending from the uvula of the bladder through the prostatic urethra; when distended, it may serve to prevent the passage of the semen backward into the bladder; on either side of the male urethral crest is a slightly depressed fossa, the prostatic sinus, the floor of which is perforated by the orifices of the prostatic ducts from the lateral lobes of the prostate; the ducts of the middle lobe open behind the crest; at the forepart of the crest, below its summit, is a median elevation, the colliculus seminalis, upon or within the margins of which are the orifices of the prostatic utricle and the slit-like openings of the ejaculatory ducts csmith 2012-11-30T03:36:23Z abnormal crista phallica morphology abnormal crista urethralis masculinae morphology abnormal urethral crest of male MPheno.ontology MP:0011841 abnormal male urethral crest morphology MP:0011841 any structural anomaly of the narrow longitudinal fold of mucosa on the posterior wall of the male urethra, extending from the uvula of the bladder through the prostatic urethra; when distended, it may serve to prevent the passage of the semen backward into the bladder; on either side of the male urethral crest is a slightly depressed fossa, the prostatic sinus, the floor of which is perforated by the orifices of the prostatic ducts from the lateral lobes of the prostate; the ducts of the middle lobe open behind the crest; at the forepart of the crest, below its summit, is a median elevation, the colliculus seminalis, upon or within the margins of which are the orifices of the prostatic utricle and the slit-like openings of the ejaculatory ducts https://orcid.org/0000-0002-6490-7723 any structural anomaly of the conspicuous longitudinal fold of mucosa on the posterior wall of the female urethra csmith 2012-11-30T03:36:23Z abnormal crista urethralis femininae morphology abnormal urethral crest of female MPheno.ontology MP:0011842 abnormal female urethral crest morphology MP:0011842 any structural anomaly of the conspicuous longitudinal fold of mucosa on the posterior wall of the female urethra https://orcid.org/0000-0002-6490-7723 any structural anomaly of the simple cuboidal epithelium lining the lumen of kidney collecting ducts; the mature and differentiated CD epithelium comprises two unique cells types with principal cells responsible for vasopressin-regulated water reabsorption, and intercalated cells regulating acid-base homeostasis; injury to the epithelium is believed to cause epithelial cells to acquire mesenchymal characteristics via epithelial-mesenchymal transition (EMT), a process through which tubular epithelial cells may transform into interstitial fibroblasts and promote renal fibrosis csmith 2012-11-30T03:40:18Z MPheno.ontology MP:0011843 abnormal kidney collecting duct epithelium morphology MP:0011843 any structural anomaly of the simple cuboidal epithelium lining the lumen of kidney collecting ducts; the mature and differentiated CD epithelium comprises two unique cells types with principal cells responsible for vasopressin-regulated water reabsorption, and intercalated cells regulating acid-base homeostasis; injury to the epithelium is believed to cause epithelial cells to acquire mesenchymal characteristics via epithelial-mesenchymal transition (EMT), a process through which tubular epithelial cells may transform into interstitial fibroblasts and promote renal fibrosis https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of the kidney collecting ducts associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes csmith 2012-11-30T03:43:16Z MPheno.ontology MP:0011844 kidney collecting duct atrophy MP:0011844 acquired diminution of the size of the kidney collecting ducts associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 anomaly in the number of any of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance csmith 2012-11-30T03:43:16Z MPheno.ontology MP:0011845 abnormal kidney collecting duct number MP:0011845 anomaly in the number of any of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance https://orcid.org/0000-0002-6490-7723 smaller than expected number of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance csmith 2012-11-30T03:43:16Z MPheno.ontology MP:0011846 decreased kidney collecting duct number MP:0011846 smaller than expected number of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance https://orcid.org/0000-0002-6490-7723 larger than expected number of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance csmith 2012-11-30T03:43:16Z MPheno.ontology MP:0011847 increased kidney collecting duct number MP:0011847 larger than expected number of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance https://orcid.org/0000-0002-6490-7723 any structural anomaly of the space posterior to the glans clitoridis, between the labia minora; located within the vestibule are the openings of the vagina, the urethra, and the ducts of the lesser vestibular glands, the greater vestibular (Bartholin's) glands, and the paraurethral (Skene's) glands, which release mucus into the vestibule to maintain a moist, lubricated vestibular environment; the vestibule is also moistened by secretions from the cervical mucus glands located in the inferior region of the uterus csmith 2012-11-30T03:51:49Z abnormal vaginal vestibule morphology abnormal vestibule of vagina abnormal vestibulum pudendi abnormal vestibulum vaginae MPheno.ontology MP:0011848 abnormal vagina vestibule morphology MP:0011848 any structural anomaly of the space posterior to the glans clitoridis, between the labia minora; located within the vestibule are the openings of the vagina, the urethra, and the ducts of the lesser vestibular glands, the greater vestibular (Bartholin's) glands, and the paraurethral (Skene's) glands, which release mucus into the vestibule to maintain a moist, lubricated vestibular environment; the vestibule is also moistened by secretions from the cervical mucus glands located in the inferior region of the uterus https://orcid.org/0000-0002-6490-7723 any structural anomaly of the ossified region of endochondral and membranous bone located in the clitoris of most mammals except humans;it is homologous to the penile bone (aka as baculum, penis bone or os penis) in male mammals csmith 2012-12-17T03:21:34Z abnormal baubellum morphology abnormal os clitoridis morphology abnormal os clitoris morphology MPheno.ontology MP:0011849 abnormal clitoral bone morphology MP:0011849 any structural anomaly of the ossified region of endochondral and membranous bone located in the clitoris of most mammals except humans;it is homologous to the penile bone (aka as baculum, penis bone or os penis) in male mammals https://orcid.org/0000-0002-6490-7723 absence of the unique bone located in the clitoris of most mammals except humans csmith 2012-12-17T03:21:34Z absent baubellum absent os clitoridis absent os clitoris MPheno.ontology MP:0011850 absent clitoral bone MP:0011850 absence of the unique bone located in the clitoris of most mammals except humans https://orcid.org/0000-0002-6490-7723 failure or anomaly in the formation of a pouch-like dilation of the caudal end of the hindgut by the process of folding of the caudal region of the embryonic disk; during the tail-fold process, the posteriorly placed allantois, or allantoic diverticulum of the yolk sac, becomes an anterior extension of the cloaca; soon after the cloaca forms, it receives posterolaterally the caudal ends of the paired mesonephric ducts and hence becomes a junctional cistern for the allantois, the hindgut, and the ducts; a cloacal membrane, composed of ectoderm and endoderm, is the caudal limit of the primitive gut and temporarily separates the cloacal cavity from the extraembryonic confines of the amniotic cavity; subsequent growth of the urorectal septum eventually subdivides the once single cloaca chamber into the primitive urogenital sinus (ventrally) and the anorectal canal of the hindgut (dorsally) csmith 2012-12-17T03:36:14Z MPheno.ontology MP:0011851 abnormal embryonic cloaca development MP:0011851 failure or anomaly in the formation of a pouch-like dilation of the caudal end of the hindgut by the process of folding of the caudal region of the embryonic disk; during the tail-fold process, the posteriorly placed allantois, or allantoic diverticulum of the yolk sac, becomes an anterior extension of the cloaca; soon after the cloaca forms, it receives posterolaterally the caudal ends of the paired mesonephric ducts and hence becomes a junctional cistern for the allantois, the hindgut, and the ducts; a cloacal membrane, composed of ectoderm and endoderm, is the caudal limit of the primitive gut and temporarily separates the cloacal cavity from the extraembryonic confines of the amniotic cavity; subsequent growth of the urorectal septum eventually subdivides the once single cloaca chamber into the primitive urogenital sinus (ventrally) and the anorectal canal of the hindgut (dorsally) https://orcid.org/0000-0002-6490-7723 failure of complete urachal lumen closure resulting in an open channel between the urinary bladder and the umbilicus and leakage of urine through the umbilicus csmith 2012-12-17T03:53:07Z MPheno.ontology MP:0011852 patent urachus MP:0011852 failure of complete urachal lumen closure resulting in an open channel between the urinary bladder and the umbilicus and leakage of urine through the umbilicus https://orcid.org/0000-0002-6490-7723 any structural anomaly of the ridge of mesoderm covered with endoderm that in the early developing embryo partitions the endodermal cloaca into the primary urogenital sinus (ventrally) and the anorectal canal of the hindgut (dorsally); the urorectal septum eventually fuses with the cloacal membrane, dividing it into a dorsal anal membrane and a larger ventral urogenital membrane - this area of fusion is represented in the adult by the perineal body csmith 2012-12-17T03:56:42Z abnormal cloacal septum morphology abnormal septum urorectale morphology abnormal urorectal fold morphology abnormal urorectal membrane morphology MPheno.ontology MP:0011853 abnormal urorectal septum morphology MP:0011853 any structural anomaly of the ridge of mesoderm covered with endoderm that in the early developing embryo partitions the endodermal cloaca into the primary urogenital sinus (ventrally) and the anorectal canal of the hindgut (dorsally); the urorectal septum eventually fuses with the cloacal membrane, dividing it into a dorsal anal membrane and a larger ventral urogenital membrane - this area of fusion is represented in the adult by the perineal body https://orcid.org/0000-0002-6490-7723 excess accumulation of water in the intra- and/or extracellular spaces of the brain csmith 2012-12-17T04:01:47Z brain edema brain oedema brain swelling cerebral oedema swelling of the brain wet brain MPheno.ontology MP:0011854 cerebral edema MP:0011854 excess accumulation of water in the intra- and/or extracellular spaces of the brain https://orcid.org/0000-0002-6490-7723 any structural anomaly of the highly specialized blood filtration interface that displays a high conductance to small and midsized solutes in plasma but retains relative impermeability to macromolecules; its integrity is maintained by physicochemical and signalling interplay among its three core constituents -- the fenestrated endothelium of the glomerular capillaries, the glomerular basement membrane, and the filtration slits of the visceral epithelial cell (podocyte) csmith 2012-12-17T04:05:39Z abnormal GFB morphology MPheno.ontology MP:0011855 abnormal glomerular filtration barrier morphology MP:0011855 any structural anomaly of the highly specialized blood filtration interface that displays a high conductance to small and midsized solutes in plasma but retains relative impermeability to macromolecules; its integrity is maintained by physicochemical and signalling interplay among its three core constituents -- the fenestrated endothelium of the glomerular capillaries, the glomerular basement membrane, and the filtration slits of the visceral epithelial cell (podocyte) PMCID:PMC2895306 https://orcid.org/0000-0002-6490-7723 anomaly in the function of the highly specialized blood filtration interface that displays a high conductance to small and midsized solutes in plasma but retains relative impermeability to macromolecules; its integrity is maintained by physicochemical and signalling interplay among its three core constituents -- the fenestrated endothelium of the glomerular capillaries, the glomerular basement membrane, and the filtration slits of the visceral epithelial cell (podocyte); the barrier permits the passage of water, ions, and small molecules from the bloodstream into the Bowman's space and prevents the loss of large and/or negatively charged proteins (e.g. serum albumin) from blood into urine csmith 2012-12-17T04:12:41Z abnormal GFB permeability MPheno.ontology MP:0011856 abnormal glomerular filtration barrier function MP:0011856 anomaly in the function of the highly specialized blood filtration interface that displays a high conductance to small and midsized solutes in plasma but retains relative impermeability to macromolecules; its integrity is maintained by physicochemical and signalling interplay among its three core constituents -- the fenestrated endothelium of the glomerular capillaries, the glomerular basement membrane, and the filtration slits of the visceral epithelial cell (podocyte); the barrier permits the passage of water, ions, and small molecules from the bloodstream into the Bowman's space and prevents the loss of large and/or negatively charged proteins (e.g. serum albumin) from blood into urine PMCID:PMC2895306 https://orcid.org/0000-0002-6490-7723 reduced average length of the apex of the renal pyramid that projects into a calyx csmith 2012-12-17T04:16:45Z reduced length of kidney papilla reduced renal papillary length short renal papilla shortened kidney papilla MPheno.ontology MP:0011857 short kidney papilla MP:0011857 reduced average length of the apex of the renal pyramid that projects into a calyx https://orcid.org/0000-0002-6490-7723 increased average length of the apex of the renal pyramid that projects into a calyx csmith 2012-12-17T04:16:45Z increased renal papillary length overextended kidney papilla overextended renal papilla overgrown papilla overgrowth of renal papilla MPheno.ontology MP:0011858 elongated kidney papilla MP:0011858 increased average length of the apex of the renal pyramid that projects into a calyx https://orcid.org/0000-0002-6490-7723 reduced width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule csmith 2012-12-17T04:20:10Z GBM thinning reduced GBM width thin renal glomerulus basement membrane thinned renal glomerulus basement membrane MPheno.ontology MP:0011859 decreased renal glomerulus basement membrane thickness MP:0011859 reduced width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule https://orcid.org/0000-0002-6490-7723 any structural anomaly of the thin sheet of endothelial cells along the basal lamina of renal tubular cells characterized by their attenuated shape and numerous regularly-spaced transcellular pores (aka fenestrae or fenestrations); the fenestrae of peritubular capillaries differ from the fenestrae of glomerular capillaries in that they are much smaller and possess a small overlying diaphragm csmith 2012-12-17T04:22:13Z MPheno.ontology MP:0011860 abnormal peritubular capillary endothelium morphology MP:0011860 any structural anomaly of the thin sheet of endothelial cells along the basal lamina of renal tubular cells characterized by their attenuated shape and numerous regularly-spaced transcellular pores (aka fenestrae or fenestrations); the fenestrae of peritubular capillaries differ from the fenestrae of glomerular capillaries in that they are much smaller and possess a small overlying diaphragm https://orcid.org/0000-0002-6490-7723 increase in the rostral-caudal distance between the cranial base and the upper domelike portion of the skull csmith 2012-12-17T04:25:18Z MPheno.ontology MP:0011861 increased cranium height MP:0011861 increase in the rostral-caudal distance between the cranial base and the upper domelike portion of the skull https://orcid.org/0000-0003-0431-8641 having a decreased dorsal-to-ventral distance of the cranium csmith 2012-12-17T04:25:18Z MPheno.ontology MP:0011862 decreased cranium length MP:0011862 having a decreased dorsal-to-ventral distance of the cranium https://orcid.org/0000-0003-0431-8641 any functional anomaly of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane csmith 2012-12-20T03:49:19Z MPheno.ontology MP:0011863 abnormal podocyte physiology MP:0011863 any functional anomaly of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any anomaly in the adhesive properties of glomerular podocytes, resulting in abnormal cell to cell and cell to extracellular matrix (ECM) interactions; podocytes adhere tightly to ECM components of the glomerular basement membrane via an integrin-laminin-actin axis to maintain a functional filtration barrier in the presence of mechanical stress csmith 2012-12-20T03:51:30Z abnormal podocyte adherence abnormal podocyte-ECM adhesion MPheno.ontology MP:0011864 abnormal podocyte adhesion MP:0011864 any anomaly in the adhesive properties of glomerular podocytes, resulting in abnormal cell to cell and cell to extracellular matrix (ECM) interactions; podocytes adhere tightly to ECM components of the glomerular basement membrane via an integrin-laminin-actin axis to maintain a functional filtration barrier in the presence of mechanical stress https://orcid.org/0000-0002-6490-7723 any anomaly in the ability of podocyte foot processes (FPs) to retract or elongate and hence move quickly along the glomerular basement membrane (GBM); motility refers to the dynamic reorganization of the interdigitating FP structure in vivo , and to the cell migration of cultured podocytes in vitro that is seen as surrogate for the former; alterations in podocyte motility are considered to underlie foot process effacement, with changes in the leading edge of the cell and its interactions with the GBM; a rather stationary podocyte phenotype is believed to reflect a stable FP structure with intact slit diaphragms, whereas hypermotility is believed to promote the development of FP effacement and proteinuria csmith 2012-12-20T03:53:30Z abnormal podocyte migration abnormal podocyte foot process motility MPheno.ontology MP:0011865 abnormal podocyte motility MP:0011865 any anomaly in the ability of podocyte foot processes (FPs) to retract or elongate and hence move quickly along the glomerular basement membrane (GBM); motility refers to the dynamic reorganization of the interdigitating FP structure in vivo , and to the cell migration of cultured podocytes in vitro that is seen as surrogate for the former; alterations in podocyte motility are considered to underlie foot process effacement, with changes in the leading edge of the cell and its interactions with the GBM; a rather stationary podocyte phenotype is believed to reflect a stable FP structure with intact slit diaphragms, whereas hypermotility is believed to promote the development of FP effacement and proteinuria https://orcid.org/0000-0002-6490-7723 greater ability of podocyte foot processes (FPs) to retract or elongate and hence move quickly along the glomerular basement membrane (GBM) csmith 2012-12-20T03:54:46Z podocyte hypermotility MPheno.ontology MP:0011866 Increased podocyte motility is believed to promote the development of FP effacement and proteinuria. increased podocyte motility MP:0011866 greater ability of podocyte foot processes (FPs) to retract or elongate and hence move quickly along the glomerular basement membrane (GBM) https://orcid.org/0000-0002-6490-7723 reduced ability of podocyte foot processes (FPs) to retract or elongate and hence move quickly along the glomerular basement membrane (GBM) csmith 2012-12-20T03:54:46Z podocyte hypomotility reduced podocyte motility MPheno.ontology MP:0011867 Decreased podocyte motility is believed to stabilize the podocyte FP architecture and protect from effacement and proteinuria. decreased podocyte motility MP:0011867 reduced ability of podocyte foot processes (FPs) to retract or elongate and hence move quickly along the glomerular basement membrane (GBM) https://orcid.org/0000-0002-6490-7723 aberrant formation of numerous slender cellular projections resembling microvilli or vesicle-like structures along the apical surface of podocytes, suggestive of podocyte injury csmith 2012-12-21T03:23:49Z microvillus transformation of foot processes podocyte microvilli podocyte microvillous transformation podocyte pseudovilli podocyte pseudovillous transformation podocyte pseudovillus transformation MPheno.ontology MP:0011868 podocyte microvillus transformation MP:0011868 aberrant formation of numerous slender cellular projections resembling microvilli or vesicle-like structures along the apical surface of podocytes, suggestive of podocyte injury https://orcid.org/0000-0002-6490-7723 detachment or loss of adhesion of podocyte foot processes from the glomerular basement membrane (GBM); as a consequence, denuded GBM areas at peripheral capillary loops can become foci for adhesions to parietal epithelial cells (glomerular synechiae) and crescent formation, and podocytes and podocyte-specific proteins may be found in the urine csmith 2012-12-21T03:27:09Z detached podocyte foot processes podocyte detachment podocyte foot process detachment MPheno.ontology MP:0011869 detached podocyte MP:0011869 detachment or loss of adhesion of podocyte foot processes from the glomerular basement membrane (GBM); as a consequence, denuded GBM areas at peripheral capillary loops can become foci for adhesions to parietal epithelial cells (glomerular synechiae) and crescent formation, and podocytes and podocyte-specific proteins may be found in the urine https://orcid.org/0000-0002-6490-7723 any anomaly in the establishment or maintenance of podocyte cell polarity; podocytes exhibit polarity along at least two axes: (i) an apical-basal axis perpendicular to the glomerular basement membrane in which the apical and basolateral membrane domains of the podocyte are separated by a boundary created by the intercellular junctions of the foot process and (ii) a second plane parallel to the basement membrane that determines the unique orientation of interdigitating foot processes csmith 2012-12-21T03:28:56Z MPheno.ontology MP:0011870 abnormal podocyte polarity MP:0011870 any anomaly in the establishment or maintenance of podocyte cell polarity; podocytes exhibit polarity along at least two axes: (i) an apical-basal axis perpendicular to the glomerular basement membrane in which the apical and basolateral membrane domains of the podocyte are separated by a boundary created by the intercellular junctions of the foot process and (ii) a second plane parallel to the basement membrane that determines the unique orientation of interdigitating foot processes https://orcid.org/0000-0002-6490-7723 increase in the size of the modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle csmith 2012-12-21T03:29:59Z enlarged podocytes glomerular visceral epithelial cell hypertrophy hypertrophic glomerular epithelial cells hypertrophic glomerular visceral epithelial cells hypertrophic podocytes MPheno.ontology MP:0011871 podocyte hypertrophy MP:0011871 increase in the size of the modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle https://orcid.org/0000-0002-6490-7723 absence of the caudal tip of the sternum csmith 2012-12-21T03:45:48Z MPheno.ontology MP:0011872 absent xiphoid process MP:0011872 absence of the caudal tip of the sternum https://orcid.org/0000-0002-2232-0967 increased size of the uterine horn csmith 2012-12-21T03:50:19Z enlarged metral horn increased uterine horn size MPheno.ontology MP:0011873 enlarged uterine horn MP:0011873 increased size of the uterine horn https://orcid.org/0000-0002-2232-0967 increased size of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys csmith 2012-12-21T03:51:32Z increased urinary bladder size MPheno.ontology MP:0011874 enlarged urinary bladder MP:0011874 increased size of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys https://orcid.org/0000-0002-2232-0967 absence of the sac-like structure of the digestive canal between the esophagus and the small intestine csmith 2012-12-21T03:54:16Z MPheno.ontology MP:0011875 absent stomach MP:0011875 absence of the sac-like structure of the digestive canal between the esophagus and the small intestine https://orcid.org/0000-0002-2232-0967 absence of organ of copulation and urination in the male csmith 2012-12-21T03:56:30Z MPheno.ontology MP:0011876 absent penis MP:0011876 absence of organ of copulation and urination in the male https://orcid.org/0000-0002-2232-0967 absence of the bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage csmith 2012-12-21T03:57:54Z MPheno.ontology MP:0011877 absent liver MP:0011877 absence of the bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage https://orcid.org/0000-0002-2232-0967 congenital blockage or absence of the lumen of the jejunum csmith 2012-12-21T03:59:18Z MPheno.ontology MP:0011878 jejunum atresia MP:0011878 congenital blockage or absence of the lumen of the jejunum https://orcid.org/0000-0002-2232-0967 congenital blockage or absence of the lumen of the ileum csmith 2012-12-21T03:59:53Z ileal atresia MPheno.ontology MP:0011879 ileum atresia MP:0011879 congenital blockage or absence of the lumen of the ileum https://orcid.org/0000-0002-2232-0967 missing portion of the small intestine that extends from the pyloris to the junction with the jejunum csmith 2012-12-21T04:00:21Z MPheno.ontology MP:0011880 absent duodenum MP:0011880 missing portion of the small intestine that extends from the pyloris to the junction with the jejunum https://orcid.org/0000-0002-2232-0967 an expansion in the volume of the portion of the small intestine that extends from the pyloris to the junction with the jejunum, as by stretching or distention csmith 2012-12-21T04:01:38Z MPheno.ontology MP:0011881 distended duodenum MP:0011881 an expansion in the volume of the portion of the small intestine that extends from the pyloris to the junction with the jejunum, as by stretching or distention https://orcid.org/0000-0002-2232-0967 increased size of the portion of the small intestine that extends from the pyloris to the junction with the jejunum csmith 2012-12-21T04:02:07Z increased duodenum size MPheno.ontology MP:0011882 enlarged duodenum MP:0011882 increased size of the portion of the small intestine that extends from the pyloris to the junction with the jejunum https://orcid.org/0000-0002-2232-0967 absence of the thin musculomebranous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control csmith 2012-12-21T04:03:25Z MPheno.ontology MP:0011883 absent diaphragm MP:0011883 absence of the thin musculomebranous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control https://orcid.org/0000-0002-2232-0967 absence of the portion of the large intestine between the cecum and the rectum csmith 2012-12-21T04:04:14Z MPheno.ontology MP:0011884 absent colon MP:0011884 absence of the portion of the large intestine between the cecum and the rectum https://orcid.org/0000-0002-2232-0967 any anomaly in the concentration of lipase in the blood, in particular the serum; the measurement of serum lipase activity is widely used for the diagnosis of acute pancreatitis csmith 2013-02-05T12:38:38Z MPheno.ontology MP:0011885 abnormal circulating lipase level MP:0011885 any anomaly in the concentration of lipase in the blood, in particular the serum; the measurement of serum lipase activity is widely used for the diagnosis of acute pancreatitis https://orcid.org/0000-0003-3691-0324 elevated blood level of lipase in the blood, in particular the serum csmith 2013-02-05T12:39:39Z MPheno.ontology MP:0011886 increased circulating lipase level MP:0011886 elevated blood level of lipase in the blood, in particular the serum https://orcid.org/0000-0003-3691-0324 reduced blood level of lipase in the blood, in particular the serum csmith 2013-02-05T12:39:39Z MPheno.ontology MP:0011887 decreased circulating lipase level MP:0011887 reduced blood level of lipase in the blood, in particular the serum https://orcid.org/0000-0003-3691-0324 total circulating protein concentration is outside the normal range csmith 2013-02-05T12:43:42Z MPheno.ontology MP:0011888 abnormal circulating total protein level MP:0011888 total circulating protein concentration is outside the normal range RGD:cur deviation from the normal concentration of ferritin, a ubiquitous intracellular protein that stores iron and releases it in a controlled fashion; some ferritin is also found in the blood and is measured in tests for overall iron levels, anemia and chronic diseases csmith 2013-02-05T12:48:53Z MPheno.ontology MP:0011889 abnormal circulating ferritin level MP:0011889 deviation from the normal concentration of ferritin, a ubiquitous intracellular protein that stores iron and releases it in a controlled fashion; some ferritin is also found in the blood and is measured in tests for overall iron levels, anemia and chronic diseases https://orcid.org/0000-0003-3691-0324 elevated concentration in the blood of ferritin, a ubiquitous intracellular protein that stores iron and releases it in a controlled fashion; some ferritin is also found in the blood and is measured in tests for overall iron levels, anemia and chronic diseases csmith 2013-02-05T12:49:53Z hyperferritinaemia hyperferritinemia MPheno.ontology MP:0011890 increased circulating ferritin level MP:0011890 elevated concentration in the blood of ferritin, a ubiquitous intracellular protein that stores iron and releases it in a controlled fashion; some ferritin is also found in the blood and is measured in tests for overall iron levels, anemia and chronic diseases https://orcid.org/0000-0003-3691-0324 reduced concentration in the blood of ferritin, a ubiquitous intracellular protein that stores iron and releases it in a controlled fashion; some ferritin is also found in the blood and is measured in tests for overall iron levels, anemia and chronic diseases csmith 2013-02-05T12:49:53Z hypoferritinaemia hypoferritinemia MPheno.ontology MP:0011891 decreased circulating ferritin level MP:0011891 reduced concentration in the blood of ferritin, a ubiquitous intracellular protein that stores iron and releases it in a controlled fashion; some ferritin is also found in the blood and is measured in tests for overall iron levels, anemia and chronic diseases https://orcid.org/0000-0003-3691-0324 deviation from the normal concentration in the blood of a plasma protein that reversibly binds and transports iron and other metal ions through the blood to the liver, spleen and bone marrow csmith 2013-02-05T12:53:05Z MPheno.ontology MP:0011892 abnormal circulating transferrin level MP:0011892 deviation from the normal concentration in the blood of a plasma protein that reversibly binds and transports iron and other metal ions through the blood to the liver, spleen and bone marrow https://orcid.org/0000-0003-3691-0324 elevated concentration in the blood of a plasma protein that reversibly binds and transports iron and other metal ions through the blood to the liver, spleen and bone marrow csmith 2013-02-05T12:54:01Z MPheno.ontology MP:0011893 increased circulating transferrin level MP:0011893 elevated concentration in the blood of a plasma protein that reversibly binds and transports iron and other metal ions through the blood to the liver, spleen and bone marrow https://orcid.org/0000-0003-3691-0324 reduced concentration in the blood of a plasma protein that reversibly binds and transports iron and other metal ions through the blood to the liver, spleen and bone marrow csmith 2013-02-05T12:54:01Z MPheno.ontology MP:0011894 decreased circulating transferrin level MP:0011894 reduced concentration in the blood of a plasma protein that reversibly binds and transports iron and other metal ions through the blood to the liver, spleen and bone marrow https://orcid.org/0000-0003-3691-0324 any anomaly in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test csmith 2013-02-05T01:52:06Z abnormal unsaturated iron binding capacity MPheno.ontology MP:0011895 abnormal circulating unsaturated transferrin level MP:0011895 any anomaly in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test https://orcid.org/0000-0003-3691-0324 increase in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test csmith 2013-02-05T01:52:06Z increased unsaturated iron binding capacity MPheno.ontology MP:0011896 increased circulating unsaturated transferrin level MP:0011896 increase in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test https://orcid.org/0000-0003-3691-0324 reduction in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test csmith 2013-02-05T01:52:06Z MPheno.ontology decreased unsaturated iron binding capacity MP:0011897 decreased circulating unsaturated transferrin level MP:0011897 reduction in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test https://orcid.org/0000-0003-3691-0324 anomaly in the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation csmith 2013-02-05T02:12:57Z abnormal thrombocyte cell number MPheno.ontology MP:0011898 abnormal platelet cell number MP:0011898 anomaly in the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation https://orcid.org/0000-0003-3691-0324 abnormal presence of fluid-filled vesicles in the cytoplasm of the modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle, often indicative of podocyte injury csmith 2013-02-05T03:15:15Z vacuolated glomerular visceral epithelial cells glomerular epithelial cell vacuolation podocyte vacuolation vacuolated podocytes vacuolized podocytes MPheno.ontology MP:0011899 podocyte vacuoles MP:0011899 abnormal presence of fluid-filled vesicles in the cytoplasm of the modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle, often indicative of podocyte injury https://orcid.org/0000-0002-6490-7723 presence of kidney podocytes, their cell fragments, or podocyte-specific proteins in the urine; urinary loss of viable podocytes may serve as a diagnostic tool for pre-eclampsia and as a marker of active renal disease csmith 2013-02-05T03:26:54Z urinary podocyte excretion urinary podocytes MPheno.ontology MP:0011900 podocyturia MP:0011900 presence of kidney podocytes, their cell fragments, or podocyte-specific proteins in the urine; urinary loss of viable podocytes may serve as a diagnostic tool for pre-eclampsia and as a marker of active renal disease https://orcid.org/0000-0002-6490-7723 anomaly in the ability of a hematopoietic stem cell population to undergo expansion by cell division csmith 2013-02-20T11:55:12Z abnormal HSC proliferation abnormal haematopoietic progenitor cell proliferation abnormal haematopoietic stem cell proliferation abnormal haemopoietic progenitor cell proliferation abnormal hematopoietic progenitor cell proliferation abnormal hemopoietic progenitor cell proliferation MPheno.ontology MP:0011901 abnormal hematopoietic stem cell proliferation MP:0011901 anomaly in the ability of a hematopoietic stem cell population to undergo expansion by cell division https://orcid.org/0000-0003-3691-0324 increase in the expansion rate of a hematopoietic stem cell population by cell division csmith 2013-02-20T11:57:06Z increased HSC proliferation increased haematopoietic progenitor cell proliferation increased haematopoietic stem cell proliferation increased haemopoietic progenitor cell proliferation increased hematopoietic progenitor cell proliferation increased hemopoietic progenitor cell proliferation MPheno.ontology MP:0011902 increased hematopoietic stem cell proliferation MP:0011902 increase in the expansion rate of a hematopoietic stem cell population by cell division https://orcid.org/0000-0003-3691-0324 reduction in the expansion rate of a hematopoietic stem cell population by cell division csmith 2013-02-20T11:57:06Z decreased HSC proliferation decreased haematopoietic progenitor cell proliferation decreased haematopoietic stem cell proliferation decreased haemopoietic progenitor cell proliferation decreased hematopoietic progenitor cell proliferation decreased hemopoietic progenitor cell proliferation MPheno.ontology MP:0011903 decreased hematopoietic stem cell proliferation MP:0011903 reduction in the expansion rate of a hematopoietic stem cell population by cell division https://orcid.org/0000-0003-3691-0324 any functional anomaly of the cells which form the insulating myelin sheaths of peripheral axons csmith 2013-02-20T12:52:51Z MPheno.ontology MP:0011904 abnormal Schwann cell physiology MP:0011904 any functional anomaly of the cells which form the insulating myelin sheaths of peripheral axons MESH:A08.637.800 any anomaly in the ability of a Schwann cell to undergo rapid expansion by cell division csmith 2013-02-20T12:54:04Z MPheno.ontology MP:0011905 abnormal Schwann cell proliferation MP:0011905 any anomaly in the ability of a Schwann cell to undergo rapid expansion by cell division https://orcid.org/0000-0003-3691-0324 increase in the expansion rate of a Schwann cell population by cell division csmith 2013-02-20T12:54:04Z MPheno.ontology MP:0011906 increased Schwann cell proliferation MP:0011906 increase in the expansion rate of a Schwann cell population by cell division https://orcid.org/0000-0003-3691-0324 reduction in the expansion rate of a Schwann cell population by cell division csmith 2013-02-20T12:54:04Z impaired Schwann cell proliferation MPheno.ontology MP:0011907 decreased Schwann cell proliferation MP:0011907 reduction in the expansion rate of a Schwann cell population by cell division https://orcid.org/0000-0003-3691-0324 anomaly in the ability of a pancreatic endocrine progenitor cell population to undergo expansion by cell division csmith 2013-02-20T14:31:03Z CL:0002351 abnormal pancreatic islet progenitor cell proliferation MPheno.ontology MP:0011908 abnormal pancreatic endocrine progenitor cell proliferation MP:0011908 anomaly in the ability of a pancreatic endocrine progenitor cell population to undergo expansion by cell division https://orcid.org/0000-0003-3691-0324 increased ability of a pancreatic endocrine progenitor cell population to undergo expansion by cell division csmith 2013-02-20T14:31:56Z CL:0002351 increased pancreatic islet progenitor cell proliferation MPheno.ontology MP:0011909 increased pancreatic endocrine progenitor cell proliferation MP:0011909 increased ability of a pancreatic endocrine progenitor cell population to undergo expansion by cell division https://orcid.org/0000-0003-3691-0324 reduced ability of a pancreatic endocrine progenitor cell population to undergo expansion by cell division csmith 2013-02-20T14:31:56Z CL:0002351 decreased pancreatic islet progenitor cell proliferation MPheno.ontology MP:0011910 decreased pancreatic endocrine progenitor cell proliferation MP:0011910 reduced ability of a pancreatic endocrine progenitor cell population to undergo expansion by cell division https://orcid.org/0000-0003-3691-0324 any functional anomaly of a multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells csmith 2013-02-20T15:47:45Z CL:0002351 abnormal pancreatic islet progenitor cell physiology MPheno.ontology MP:0011911 abnormal pancreatic endocrine progenitor cell physiology MP:0011911 any functional anomaly of a multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells CL:0002351 aberrant concentration in the blood of the glycoprotein that binds to integrins or components of the extracellular matrix; plays a major role in cell adhesion, growth, migration, differentiation, wound healing, and embryonic development csmith 2013-03-07T11:54:01Z abnormal soluble fibronectin level abnormal plasma fibronectin level MPheno.ontology MP:0011912 abnormal circulating fibronectin level MP:0011912 aberrant concentration in the blood of the glycoprotein that binds to integrins or components of the extracellular matrix; plays a major role in cell adhesion, growth, migration, differentiation, wound healing, and embryonic development MPD:Molly altered number of immature (nucleated) erythrocytes csmith 2013-03-07T13:05:06Z MPheno.ontology MP:0011913 abnormal reticulocyte cell number MP:0011913 altered number of immature (nucleated) erythrocytes MPD:Molly less than average weight of the left atrium csmith 2013-03-07T13:20:51Z reduced heart left atrium weight MPheno.ontology MP:0011914 decreased heart left atrium weight MP:0011914 less than average weight of the left atrium MPD:Molly more than average weight of the left atrium csmith 2013-03-07T13:20:51Z MPheno.ontology MP:0011915 increased heart left atrium weight MP:0011915 more than average weight of the left atrium MPD:Molly less than average weight of the right atrium csmith 2013-03-07T13:20:51Z reduced heart right atrium weight MPheno.ontology MP:0011916 decreased heart right atrium weight MP:0011916 less than average weight of the right atrium MPD:Molly more than average weight of the right atrium csmith 2013-03-07T13:20:51Z MPheno.ontology MP:0011917 increased heart right atrium weight MP:0011917 more than average weight of the right atrium MPD:Molly anomaly in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave csmith 2013-03-07T13:44:21Z MPheno.ontology MP:0011918 abnormal PQ interval MP:0011918 anomaly in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave MPD:Molly any anomaly in the R wave which represents ventricular depolarization and corresponds to electrical impulses rather than mechanical ventricular contractions; irregular or multiple R waves may indicate arrhythmia and the shape of the R waves may indicate ventricular problems csmith 2013-03-07T13:44:21Z MPheno.ontology MP:0011919 abnormal R wave MP:0011919 any anomaly in the R wave which represents ventricular depolarization and corresponds to electrical impulses rather than mechanical ventricular contractions; irregular or multiple R waves may indicate arrhythmia and the shape of the R waves may indicate ventricular problems MPD:Molly any anomaly in the S wave which represents the end of ventricular depolarization and corresponds to an isoelectric state rather than mechanical ventricular relaxation csmith 2013-03-07T13:44:21Z MPheno.ontology MP:0011920 abnormal S wave MP:0011920 any anomaly in the S wave which represents the end of ventricular depolarization and corresponds to an isoelectric state rather than mechanical ventricular relaxation MPD:Molly any structural anomaly of the region between the zona glomerulosa and zona fasciculata that is relatively thin and contains mostly undifferentiated cells csmith 2013-03-07T13:53:34Z abnormal zona intermedia morphology MPheno.ontology MP:0011921 abnormal adrenal gland zona intermedia morphology MP:0011921 any structural anomaly of the region between the zona glomerulosa and zona fasciculata that is relatively thin and contains mostly undifferentiated cells MPD:Molly aberrant concentration in the blood of this noncollagenous protein hormone found in bone and dentin, which is secreted by osteoblasts csmith 2013-03-07T13:55:35Z abnormal circulating BGLAP level abnormal circulating bone gamma-carboxyglutamic acid-containing protein level MPheno.ontology MP:0011922 abnormal circulating osteocalcin level MP:0011922 aberrant concentration in the blood of this noncollagenous protein hormone found in bone and dentin, which is secreted by osteoblasts MPD:Molly any anomaly in the amount of space occupied by urine in the bladder csmith 2013-03-07T13:56:46Z MPheno.ontology MP:0011923 abnormal bladder urine volume MP:0011923 any anomaly in the amount of space occupied by urine in the bladder MPD:Molly anomaly in the amount of zinc present in the liver tissue csmith 2013-03-07T13:57:41Z MPheno.ontology MP:0011924 abnormal liver zinc level MP:0011924 anomaly in the amount of zinc present in the liver tissue MPD:Molly any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features csmith 2013-03-07T14:21:58Z MPheno.ontology MP:0011925 abnormal heart echocardiography feature MP:0011925 any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features MPD:Molly any functional anomaly of the membranous folds of the heart that prevent reflux of fluid csmith 2013-03-07T14:24:43Z abnormal cardiac valve physiology MPheno.ontology MP:0011926 abnormal heart valve physiology MP:0011926 any functional anomaly of the membranous folds of the heart that prevent reflux of fluid MESH:A07.541.510 any anomaly of the regulated one-way movement of blood through the heart valves csmith 2013-03-07T14:26:09Z MPheno.ontology MP:0011927 abnormal cardiac valve flow MP:0011927 any anomaly of the regulated one-way movement of blood through the heart valves https://orcid.org/0000-0003-3691-0324 abnormality of valve function causing passive filling of the left ventricle or active filling of the left atrium csmith 2013-03-07T14:26:09Z MPheno.ontology MP:0011928 abnormal mitral valve flow MP:0011928 abnormality of valve function causing passive filling of the left ventricle or active filling of the left atrium MPD:Molly abnormality impeding normal blood flow or allowing blood to backflow through this valve into the left ventricle csmith 2013-03-07T14:26:09Z MPheno.ontology MP:0011929 abnormal aortic valve flow MP:0011929 abnormality impeding normal blood flow or allowing blood to backflow through this valve into the left ventricle MPD:Molly abnormality of valve function causing passive filling of the right ventricle or active filling of the right atrium csmith 2013-03-07T14:26:09Z MPheno.ontology MP:0011930 abnormal tricuspid valve flow MP:0011930 abnormality of valve function causing passive filling of the right ventricle or active filling of the right atrium MPD:Molly abnormality impeding normal blood flow or allowing blood to backflow through this valve into the right ventricle csmith 2013-03-07T14:26:09Z MPheno.ontology MP:0011931 abnormal pulmonary valve flow MP:0011931 abnormality impeding normal blood flow or allowing blood to backflow through this valve into the right ventricle MPD:Molly anomaly in the formation of the smaller portion of the pancreas that secretes a number of hormones into the blood stream that are produced by the cells in the islets of Langerhans csmith 2013-03-07T15:09:00Z MPheno.ontology MP:0011932 abnormal endocrine pancreas development MP:0011932 anomaly in the formation of the smaller portion of the pancreas that secretes a number of hormones into the blood stream that are produced by the cells in the islets of Langerhans https://orcid.org/0000-0003-3691-0324 anomaly in the formation of the acinar gland portion of the pancreas that secretes digestive enzymes csmith 2013-03-07T15:09:00Z MPheno.ontology MP:0011933 abnormal exocrine pancreas development MP:0011933 anomaly in the formation of the acinar gland portion of the pancreas that secretes digestive enzymes https://orcid.org/0000-0003-3691-0324 any anomaly in the process in which the branches of the developing pancreas are generated and organized csmith 2013-03-07T15:09:00Z MPheno.ontology MP:0011934 abnormal branching involved in pancreas development MP:0011934 any anomaly in the process in which the branches of the developing pancreas are generated and organized GO:0061114 any anomaly in the process in which the foregut region specified to become the pancreas forms a bud csmith 2013-03-07T15:11:37Z MPheno.ontology MP:0011935 abnormal pancreatic bud formation MP:0011935 any anomaly in the process in which the foregut region specified to become the pancreas forms a bud GO:0061130 any anomaly in the distance between consecutive P waves in the electrocardiogram, representing the length of the cardiac cycle; this value is often used in calculating heart rate and heart rate variability csmith 2013-03-08T13:36:03Z MPheno.ontology MP:0011936 abnormal PP interval MP:0011936 any anomaly in the distance between consecutive P waves in the electrocardiogram, representing the length of the cardiac cycle; this value is often used in calculating heart rate and heart rate variability https://orcid.org/0000-0003-3691-0324 decrease in the distance between consecutive P waves in the electrocardiogram, representing the length of the cardiac cycle csmith 2013-03-08T13:36:17Z MPheno.ontology MP:0011937 shortened PP interval MP:0011937 decrease in the distance between consecutive P waves in the electrocardiogram, representing the length of the cardiac cycle https://orcid.org/0000-0003-3691-0324 increase in the distance between consecutive P waves in the electrocardiogram, representing the length of the cardiac cycle csmith 2013-03-08T13:36:36Z MPheno.ontology MP:0011938 prolonged PP interval MP:0011938 increase in the distance between consecutive P waves in the electrocardiogram, representing the length of the cardiac cycle https://orcid.org/0000-0003-3691-0324 increase in the total number of calories/food amount taken in over time when compared to the normal state csmith 2013-03-11T12:35:34Z MPheno.ontology MP:0011939 increased food intake MP:0011939 increase in the total number of calories/food amount taken in over time when compared to the normal state https://orcid.org/0000-0003-3691-0324 reduction in the total number of calories or food amount taken in over time when compared to the normal state csmith 2013-03-11T12:35:34Z hypophagia reduced food intake MPheno.ontology anorexia loss of appetite MP:0011940 decreased food intake MP:0011940 reduction in the total number of calories or food amount taken in over time when compared to the normal state https://orcid.org/0000-0003-3691-0324 increase in the total amount of fluid taken in over time when compared to the normal state csmith 2013-03-11T13:55:16Z MPheno.ontology increased liquid intake MP:0011941 increased fluid intake MP:0011941 increase in the total amount of fluid taken in over time when compared to the normal state https://orcid.org/0000-0003-3691-0324 reduction in the total amount of fluid taken in over time when compared to the normal state csmith 2013-03-11T13:55:16Z MPheno.ontology decreased liquid intake MP:0011942 decreased fluid intake MP:0011942 reduction in the total amount of fluid taken in over time when compared to the normal state https://orcid.org/0000-0003-3691-0324 anomaly in the fluctuation pattern in feeding behavior (amount and instances) that occurs over an approximately 24 hour light/dark cycle csmith 2013-03-11T15:14:50Z abnormal circadian feeding behaviour MPheno.ontology MP:0011943 abnormal circadian feeding behavior MP:0011943 anomaly in the fluctuation pattern in feeding behavior (amount and instances) that occurs over an approximately 24 hour light/dark cycle https://orcid.org/0000-0003-3691-0324 anomaly in the number of discrete instances of initiation of eating over time, regardless of amount eaten csmith 2013-03-11T15:21:56Z MPheno.ontology MP:0011944 abnormal eating frequency MP:0011944 anomaly in the number of discrete instances of initiation of eating over time, regardless of amount eaten https://orcid.org/0000-0003-3691-0324 increase in the number of discrete instances of initiation of eating over time, regardless of amount eaten csmith 2013-03-11T15:23:38Z MPheno.ontology MP:0011945 increased eating frequency MP:0011945 increase in the number of discrete instances of initiation of eating over time, regardless of amount eaten https://orcid.org/0000-0003-3691-0324 reduction in the number of discrete instances of initiation of eating over time, regardless of amount eaten csmith 2013-03-11T15:23:38Z reduced eating frequency MPheno.ontology MP:0011946 decreased eating frequency MP:0011946 reduction in the number of discrete instances of initiation of eating over time, regardless of amount eaten https://orcid.org/0000-0003-3691-0324 significant anomaly in the total amount of fluid taken in over time when compared to the normal state csmith 2013-03-11T15:26:07Z MPheno.ontology MP:0011947 abnormal fluid intake MP:0011947 significant anomaly in the total amount of fluid taken in over time when compared to the normal state https://orcid.org/0000-0003-3691-0324 anomaly in the number of discrete instances of initiation of drinking over time, regardless of amount ingested csmith 2013-03-11T15:27:45Z MPheno.ontology MP:0011948 abnormal drinking frequency MP:0011948 anomaly in the number of discrete instances of initiation of drinking over time, regardless of amount ingested https://orcid.org/0000-0003-3691-0324 increase in the number of discrete instances of initiation of drinking over time, regardless of amount ingested csmith 2013-03-11T15:28:22Z MPheno.ontology MP:0011949 increased drinking frequency MP:0011949 increase in the number of discrete instances of initiation of drinking over time, regardless of amount ingested https://orcid.org/0000-0003-3691-0324 reduction in the number of discrete instances of initiation of drinking over time, regardless of amount ingested csmith 2013-03-11T15:28:22Z reduced drinking frequency MPheno.ontology MP:0011950 decreased drinking frequency MP:0011950 reduction in the number of discrete instances of initiation of drinking over time, regardless of amount ingested https://orcid.org/0000-0003-3691-0324 increase in the volume of blood pushed into the aorta with each beat of the heart csmith 2013-03-11T15:46:38Z MPheno.ontology MP:0011951 increased cardiac stroke volume MP:0011951 increase in the volume of blood pushed into the aorta with each beat of the heart https://orcid.org/0000-0003-3691-0324 reduction in the volume of blood pushed into the aorta with each beat of the heart csmith 2013-03-11T15:46:38Z MPheno.ontology MP:0011952 decreased cardiac stroke volume MP:0011952 reduction in the volume of blood pushed into the aorta with each beat of the heart https://orcid.org/0000-0003-3691-0324 increase in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave csmith 2013-03-11T16:00:36Z MPheno.ontology MP:0011953 prolonged PQ interval MP:0011953 increase in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave MPD:Molly decrease in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave csmith 2013-03-11T16:00:36Z MPheno.ontology MP:0011954 shortened PQ interval MP:0011954 decrease in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave MPD:Molly two or more mutant gene products, when existing together in one organism, result in a wild-type phenotype when each independent mutation shows a phenotype csmith 2013-03-11T22:13:27Z MPheno.ontology MP:0011955 phenotypic reversion by gene product interaction MP:0011955 two or more mutant gene products, when existing together in one organism, result in a wild-type phenotype when each independent mutation shows a phenotype MGI:llw2 anomaly in the amount of food consumed after a period of fasting csmith 2013-03-13T16:06:11Z MPheno.ontology MP:0011956 abnormal compensatory feeding amount MP:0011956 anomaly in the amount of food consumed after a period of fasting https://orcid.org/0000-0003-3691-0324 decreased amount of food consumed after a period of fasting csmith 2013-03-13T16:06:11Z reduced compensatory feeding amount MPheno.ontology MP:0011957 decreased compensatory feeding amount MP:0011957 decreased amount of food consumed after a period of fasting https://orcid.org/0000-0003-3691-0324 increased amount of food consumed after a period of fasting csmith 2013-03-13T16:06:11Z MPheno.ontology MP:0011958 increased compensatory feeding amount MP:0011958 increased amount of food consumed after a period of fasting https://orcid.org/0000-0003-3691-0324 anomaly in the distance between the iris and the lens at the center plane (maximum distance) of the posterior chamber, compared to controls csmith 2013-03-15T13:59:20Z abnormal PCD MPheno.ontology MP:0011959 abnormal eye posterior chamber depth MP:0011959 anomaly in the distance between the iris and the lens at the center plane (maximum distance) of the posterior chamber, compared to controls https://orcid.org/0000-0003-3691-0324 anomaly in the distance between the iris and the cornea at the center plane (maximum distance) of the eye anterior chamber compared to controls csmith 2013-03-15T14:25:09Z abnormal ACD MPheno.ontology MP:0011960 abnormal eye anterior chamber depth MP:0011960 anomaly in the distance between the iris and the cornea at the center plane (maximum distance) of the eye anterior chamber compared to controls https://orcid.org/0000-0003-3691-0324 increased or decreased width of the cornea in the center plane csmith 2013-03-15T14:46:10Z abnormal corneal thickness abnormal tunica cornea thickness MPheno.ontology MP:0011961 abnormal cornea thickness MP:0011961 increased or decreased width of the cornea in the center plane https://orcid.org/0000-0003-3691-0324 increased width of the cornea in the center plane csmith 2013-03-15T14:53:47Z increased corneal thickness increased tunica cornea thickness MPheno.ontology MP:0011962 increased cornea thickness MP:0011962 increased width of the cornea in the center plane https://orcid.org/0000-0003-3691-0324 increased or decreased width of the retina through the center plane csmith 2013-03-15T15:03:08Z abnormal total retinal thickness MPheno.ontology MP:0011963 abnormal total retina thickness MP:0011963 increased or decreased width of the retina through the center plane https://orcid.org/0000-0003-3691-0324 increased width of the retina through the center plane csmith 2013-03-15T15:04:09Z increased total retinal thickness MPheno.ontology MP:0011964 increased total retina thickness MP:0011964 increased width of the retina through the center plane https://orcid.org/0000-0003-3691-0324 decreased width of the retina through the center plane csmith 2013-03-15T15:04:09Z decreased total retinal thickness reduced total retina thickness reduced total retinal thickness retina thinning retinal thinning thin retina MPheno.ontology MP:0011965 decreased total retina thickness MP:0011965 decreased width of the retina through the center plane https://orcid.org/0000-0003-3691-0324 any anomaly in the characteristic pattern of electrical activity recording of a series of vertex positive waves generated by neurons in the ascending auditory system, that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts csmith 2013-04-04T12:51:28Z MPheno.ontology MP:0011966 abnormal auditory brainstem response waveform shape MP:0011966 any anomaly in the characteristic pattern of electrical activity recording of a series of vertex positive waves generated by neurons in the ascending auditory system, that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts https://orcid.org/0000-0003-3691-0324 increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click csmith 2013-04-04T12:52:39Z absent ABRs absent BAEP(s) absent brainstem auditory brainstem response(s) absent brainstem auditory evoked potential absent brainstem evoked responses MPheno.ontology MP:0011967 increased or absent threshold for auditory brainstem response MP:0011967 increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click https://orcid.org/0000-0003-3691-0324 reduction in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system csmith 2013-04-04T12:52:59Z MPheno.ontology MP:0011968 decreased threshold for auditory brainstem response MP:0011968 reduction in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system https://orcid.org/0000-0003-3691-0324 abnormal concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver csmith 2013-04-04T16:10:51Z MPheno.ontology MP:0011969 abnormal circulating triglyceride level MP:0011969 abnormal concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver https://orcid.org/0000-0003-3691-0324 abnormal blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types csmith 2013-04-05T12:37:05Z abnormal circulating LDH level MPheno.ontology MP:0011970 abnormal circulating lactate dehydrogenase level MP:0011970 abnormal blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types MeSH:D08.811.682.047.551.400 https://orcid.org/0000-0003-3691-0324 elevated blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types csmith 2013-04-05T12:37:05Z increased circulating LDH level MPheno.ontology MP:0011971 increased circulating lactate dehydrogenase level MP:0011971 elevated blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types MeSH:D08.811.682.047.551.400 https://orcid.org/0000-0003-3691-0324 reduced blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types csmith 2013-04-05T12:37:05Z decreased circulating LDH level MPheno.ontology MP:0011972 decreased circulating lactate dehydrogenase level MP:0011972 reduced blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types MeSH:D08.811.682.047.551.400 https://orcid.org/0000-0003-3691-0324 abnormal blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source csmith 2013-04-05T13:35:12Z MPheno.ontology MP:0011973 abnormal circulating glycerol level MP:0011973 abnormal blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source https://orcid.org/0000-0003-3691-0324 abnormal narrowing or constriction of the segment of the alimentary canal extending from the pyloric sphincter of the stomach to the anus csmith 2013-04-08T15:15:23Z intestine stenosis MPheno.ontology MP:0011974 intestinal stenosis MP:0011974 abnormal narrowing or constriction of the segment of the alimentary canal extending from the pyloric sphincter of the stomach to the anus MGI:llw2 presence of aggregates of protein within the cytoplasm of neurons; hallmark of neurodegenerative disorders csmith 2013-04-08T15:20:07Z MPheno.ontology MP:0011975 neuronal cytoplasmic inclusions MP:0011975 presence of aggregates of protein within the cytoplasm of neurons; hallmark of neurodegenerative disorders https://orcid.org/0000-0003-0431-8641 subjects demonstrate predilection for sweet tasting substances over other offered substance csmith 2013-04-16T12:20:09Z MPheno.ontology MP:0011976 sweet preference MP:0011976 subjects demonstrate predilection for sweet tasting substances over other offered substance https://orcid.org/0000-0003-3691-0324 anomaly in the processes involved in the maintenance of an internal equilibrium of sodium ions within the body or between a cell and its external environment csmith 2013-05-03T15:48:46Z MPheno.ontology MP:0011977 abnormal sodium ion homeostasis MP:0011977 anomaly in the processes involved in the maintenance of an internal equilibrium of sodium ions within the body or between a cell and its external environment MPD:Molly anomaly in the processes involved in the maintenance of an internal equilibrium of potassium ions within the body or between a cell and its external environment csmith 2013-05-03T15:48:46Z MPheno.ontology MP:0011978 abnormal potassium ion homeostasis MP:0011978 anomaly in the processes involved in the maintenance of an internal equilibrium of potassium ions within the body or between a cell and its external environment MPD:Molly anomaly in the processes involved in the maintenance of an internal equilibrium of magnesium ions within the body or between a cell and its external environment csmith 2013-05-03T15:48:46Z MPheno.ontology MP:0011979 abnormal magnesium ion homeostasis MP:0011979 anomaly in the processes involved in the maintenance of an internal equilibrium of magnesium ions within the body or between a cell and its external environment MPD:Molly absence of the yolk sac-derived primitive myeloid progenitors that populate the skin before the onset of fetal liver hematopoiesis csmith 2013-05-06T15:12:34Z MPheno.ontology MP:0011980 absent Langerhans cell precursors MP:0011980 absence of the yolk sac-derived primitive myeloid progenitors that populate the skin before the onset of fetal liver hematopoiesis PMID:22565823 atypical production of or inability to produce the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system csmith 2013-05-06T15:15:28Z MPheno.ontology MP:0011981 abnormal microglial cell differentiation MP:0011981 atypical production of or inability to produce the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system PMID:22729249 reduced number of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system csmith 2013-05-06T15:16:47Z MPheno.ontology MP:0011982 decreased microglial cell number MP:0011982 reduced number of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system PMID:22046273 atypical production of or inability to produce the fat-storing cells that line the hepatic sinusoids csmith 2013-05-06T15:18:26Z abnormal hepatic stellate cell differentiation MPheno.ontology MP:0011983 abnormal Ito cell differentiation MP:0011983 atypical production of or inability to produce the fat-storing cells that line the hepatic sinusoids PMID:9407545 reduction in the number of the various hormone- or neurotransmitter-secreting epithelial cells present throughout the mucosa of the digestive tract csmith 2013-05-06T15:20:26Z MPheno.ontology MP:0011984 decreased enteroendocrine cell number MP:0011984 reduction in the number of the various hormone- or neurotransmitter-secreting epithelial cells present throughout the mucosa of the digestive tract PMID:23451116 anomaly in the ability of macrophages to undergo expansion by cell division; macrophages are large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells csmith 2013-05-06T15:38:29Z MPheno.ontology MP:0011985 abnormal macrophage proliferation MP:0011985 anomaly in the ability of macrophages to undergo expansion by cell division; macrophages are large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells CL:0000235 reduced ability of macrophages to undergo expansion by cell division; macrophages are large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells csmith 2013-05-06T15:38:54Z reduced macrophage proliferation MPheno.ontology MP:0011986 decreased macrophage proliferation MP:0011986 reduced ability of macrophages to undergo expansion by cell division; macrophages are large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells CL:0000235 any functional anomaly of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter csmith 2013-05-06T16:00:42Z MPheno.ontology MP:0011987 abnormal GABAergic neuron physiology MP:0011987 any functional anomaly of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter PMID:8787741 increased number of attempts of sexual behavioral contact between an initiating organism and a receptive partner csmith 2013-05-14T12:41:02Z increased copulation frequency increased coitus frequency MPheno.ontology MP:0011988 increased mating frequency MP:0011988 increased number of attempts of sexual behavioral contact between an initiating organism and a receptive partner MESH:F01.145.113.252.748.200 aberrant concentration of porphyrins or protoporphyrins csmith 2013-05-14T12:45:27Z MPheno.ontology MP:0011989 abnormal porphyrin level MP:0011989 aberrant concentration of porphyrins or protoporphyrins https://orcid.org/0000-0003-3691-0324 reduced concentration of porphyrins or protoporphyrins csmith 2013-05-14T12:45:46Z reduced porphyrin level MPheno.ontology MP:0011990 decreased porphyrin level MP:0011990 reduced concentration of porphyrins or protoporphyrins https://orcid.org/0000-0003-3691-0324 transformation of cells comprising the aorta epithelium to arterial chondrocytes that express type II collagen, resulting in heterotopic formation of cartilage and may lead to calcification in the aorta csmith 2013-05-14T14:05:35Z MPheno.ontology MP:0011991 aortic cartilaginous metaplasia MP:0011991 transformation of cells comprising the aorta epithelium to arterial chondrocytes that express type II collagen, resulting in heterotopic formation of cartilage and may lead to calcification in the aorta PMID:7489252 https://orcid.org/0000-0003-3691-0324 greater capacity to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O, in erythorcytes csmith 2013-05-14T15:48:42Z MPheno.ontology MP:0011992 increased erythrocyte catalase activity MP:0011992 greater capacity to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O, in erythorcytes GO:0004096 https://orcid.org/0000-0003-3691-0324 increased degree of heat natural to the foot pad-environment interface of a living being csmith 2013-05-14T15:58:24Z MPheno.ontology MP:0011993 increased foot pad temperature MP:0011993 increased degree of heat natural to the foot pad-environment interface of a living being https://orcid.org/0000-0003-3691-0324 increase in the rate at which an electrical impulse travels through a nerve csmith 2013-05-14T16:03:20Z MPheno.ontology increased nerve conduction MP:0011994 increased nerve conduction velocity MP:0011994 increase in the rate at which an electrical impulse travels through a nerve https://orcid.org/0000-0003-3691-0324 less than the expected number of neoplasms derived from blood or bone marrow in a specific population in a given time period csmith 2013-05-14T16:18:55Z decreased leucaemia incidence decreased leukaemia incidence MPheno.ontology MP:0011995 decreased leukemia incidence MP:0011995 less than the expected number of neoplasms derived from blood or bone marrow in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 anomaly in the thickness of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells csmith 2013-05-14T16:24:04Z abnormal retinal INL thickness abnormal retinal inner nuclear layer thickness MPheno.ontology MP:0011996 abnormal retina inner nuclear layer thickness MP:0011996 anomaly in the thickness of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells https://orcid.org/0000-0003-3691-0324 anomaly in the thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones csmith 2013-05-14T16:25:32Z abnormal retina ONL thickness abnormal retinal ONL thickness abnormal retinal outer nuclear layer thickness MPheno.ontology MP:0011997 abnormal retina outer nuclear layer thickness MP:0011997 anomaly in the thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones https://orcid.org/0000-0003-3691-0324 reduced length of the cilia of the mouse embryo found on the cells of the embryonic node csmith 2013-05-14T16:44:48Z decreased embryonic cilia length short embryonic cilia stubby embryonic cilia MPheno.ontology MP:0011998 decreased embryonic cilium length MP:0011998 reduced length of the cilia of the mouse embryo found on the cells of the embryonic node https://orcid.org/0000-0003-3691-0324 any anomaly in the length of tail relative to average of a given reference population csmith 2013-05-20T14:42:10Z MPheno.ontology MP:0011999 abnormal tail length MP:0011999 any anomaly in the length of tail relative to average of a given reference population https://orcid.org/0000-0003-3691-0324 anomaly in the location or orientation of the limbs on the body relative to other body parts or axes csmith 2013-05-20T14:45:09Z MPheno.ontology MP:0012000 abnormal limb position MP:0012000 anomaly in the location or orientation of the limbs on the body relative to other body parts or axes https://orcid.org/0000-0003-3691-0324 anomaly in the ability of an animal to respond to the approach of a human hand by fleeing from it csmith 2013-05-20T15:38:46Z MPheno.ontology MP:0012001 abnormal touch escape response MP:0012001 anomaly in the ability of an animal to respond to the approach of a human hand by fleeing from it PMID:10563494 impaired ability of an animal to respond to the approach of a human hand by fleeing from it, including fleeing only after a touch or stroke, or not responding to touch by fleeing csmith 2013-05-20T15:42:41Z MPheno.ontology MP:0012002 impaired touch escape response MP:0012002 impaired ability of an animal to respond to the approach of a human hand by fleeing from it, including fleeing only after a touch or stroke, or not responding to touch by fleeing https://orcid.org/0000-0003-3691-0324 any structural anomaly of the gray matter structures of the telencephalon and limbic system in the brain; included is the cortical septal area, subcortical septal nuclei, and the septum pellucidum; however, many authorities consider the septal region to be made up of the septal area and the septal nuclei, but excluding the septum pellucidum csmith 2013-06-10T16:02:44Z MPheno.ontology MP:0012003 abnormal septum of telencephalon morphology MP:0012003 any structural anomaly of the gray matter structures of the telencephalon and limbic system in the brain; included is the cortical septal area, subcortical septal nuclei, and the septum pellucidum; however, many authorities consider the septal region to be made up of the septal area and the septal nuclei, but excluding the septum pellucidum https://orcid.org/0000-0002-6490-7723 any structural anomaly of the thin, triangular, vertical membrane separating the anterior horns of the left and right lateral ventricles of the septum, which has strong projections to hypothalamic and midbrain regions and receives projections from the hippocampus and amygdala csmith 2013-06-10T16:14:10Z abnormal lateral septum morphology abnormal septum lucidum morphology MPheno.ontology MP:0012004 abnormal septum pellucidum morphology MP:0012004 any structural anomaly of the thin, triangular, vertical membrane separating the anterior horns of the left and right lateral ventricles of the septum, which has strong projections to hypothalamic and midbrain regions and receives projections from the hippocampus and amygdala MPD:Molly https://orcid.org/0000-0003-3691-0324 anomaly in the size of the thin, triangular, vertical membrane separating the anterior horns of the left and righ of the septum, which has strong projections to hypothalamic and midbrain regions and receives projections from the hippocampus and amygdala csmith 2013-06-10T16:14:10Z abnormal lateral septum size abnormal septum lucidum size MPheno.ontology MP:0012005 abnormal septum pellucidum size MP:0012005 anomaly in the size of the thin, triangular, vertical membrane separating the anterior horns of the left and righ of the septum, which has strong projections to hypothalamic and midbrain regions and receives projections from the hippocampus and amygdala MPD:Molly https://orcid.org/0000-0003-3691-0324 any functional anomaly related to processes in the deep lying structure of the cerebrum involved with memory storage and spatial navigation csmith 2013-07-05T09:34:16Z MPheno.ontology MP:0012006 abnormal hippocampus physiology MP:0012006 any functional anomaly related to processes in the deep lying structure of the cerebrum involved with memory storage and spatial navigation MPD:Molly any change in the amount of chloride, the major extracellular anion in mammals; it plays roles in tissue fluid homeostasis and also helps maintain proper blood volume, blood pressure, and body fluid pH csmith 2013-07-05T13:46:56Z MPheno.ontology MP:0012007 abnormal chloride level MP:0012007 any change in the amount of chloride, the major extracellular anion in mammals; it plays roles in tissue fluid homeostasis and also helps maintain proper blood volume, blood pressure, and body fluid pH https://orcid.org/0000-0003-3691-0324 the process of labor and delivery in female animals occurs later in gestation than expected or lack of progress in a labor already initiated csmith 2013-08-07T10:28:07Z MPheno.ontology MP:0012008 delayed parturition MP:0012008 the process of labor and delivery in female animals occurs later in gestation than expected or lack of progress in a labor already initiated https://orcid.org/0000-0003-3691-0324 the process of labor and delivery in female animals occurs earlier in gestation than expected csmith 2013-08-07T10:28:07Z MPheno.ontology preterm labor preterm labour MP:0012009 early parturition MP:0012009 the process of labor and delivery in female animals occurs earlier in gestation than expected https://orcid.org/0000-0003-3691-0324 the process of labor and delivery in female animals does not initiate or complete csmith 2013-08-07T10:28:07Z failure of parturition MPheno.ontology MP:0012010 parturition failure MP:0012010 the process of labor and delivery in female animals does not initiate or complete https://orcid.org/0000-0003-3691-0324 a convulsion associated with a significant rise in body temperature (fever) csmith 2013-08-07T15:08:40Z febrile convulsion MPheno.ontology MP:0012011 febrile seizures MP:0012011 a convulsion associated with a significant rise in body temperature (fever) https://orcid.org/0000-0003-3691-0324 any anomaly in the naive behavioral response of an individual to an aversive olfactory stimulus, in which the tendency to act defensively is stronger than the tendency to attack csmith 2013-08-07T16:15:28Z MPheno.ontology MP:0012012 abnormal innate olfactory avoidance response MP:0012012 any anomaly in the naive behavioral response of an individual to an aversive olfactory stimulus, in which the tendency to act defensively is stronger than the tendency to attack https://orcid.org/0000-0003-4606-0597 any anomaly in the naive behavioral response of an individual to an aversive stimulus, in which the tendency to act defensively is stronger than the tendency to attack csmith 2013-08-07T16:17:37Z NBO:0000635 MPheno.ontology MP:0012013 abnormal innate avoidance response MP:0012013 any anomaly in the naive behavioral response of an individual to an aversive stimulus, in which the tendency to act defensively is stronger than the tendency to attack NBO:0000635 https://orcid.org/0000-0003-4606-0597 any changes in the placement, morphology or number of axons from olfactory neurons to an effector tissue or to olfactory glomeruli or olfactory bulb csmith 2013-08-08T09:21:55Z MPheno.ontology MP:0012014 abnormal olfactory neuron innervation pattern MP:0012014 any changes in the placement, morphology or number of axons from olfactory neurons to an effector tissue or to olfactory glomeruli or olfactory bulb https://orcid.org/0000-0003-3691-0324 anomaly in the amount or distribution of black (or brown) pigment in the eumelanosomes of melanocytes csmith 2013-08-08T09:52:22Z MPheno.ontology MP:0012015 abnormal eumelanosome eumelanin content MP:0012015 anomaly in the amount or distribution of black (or brown) pigment in the eumelanosomes of melanocytes MGI:llw2 anomaly in the amount or distribution of black (or brown) pigment in the eumelanosomes of the hair follicle melanocytes csmith 2013-08-08T09:52:22Z MPheno.ontology MP:0012016 abnormal hair follicle eumelanosome eumelanin content MP:0012016 anomaly in the amount or distribution of black (or brown) pigment in the eumelanosomes of the hair follicle melanocytes MGI:llw2 amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is decreased compared to wild-type agouti producing hair that is partly gray or streaked with gray csmith 2013-08-08T09:56:27Z chinchilla effect grizzled coat colour MPheno.ontology grey coat color grey coat colour MP:0012017 grizzled coat color MP:0012017 amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is decreased compared to wild-type agouti producing hair that is partly gray or streaked with gray MGI:llw2 any functional anomaly of the tube through which the ova pass from the ovary to the uterus csmith 2013-08-08T10:17:59Z abnormal fallopian tube physiology abnormal salpinges physiology abnormal salpinx physiology abnormal salpinx uterina physiology abnormal tuba fallopiana physiology abnormal tuba fallopii physiology abnormal tuba uterina physiology abnormal uterine tube physiology MPheno.ontology MP:0012018 abnormal oviduct physiology MP:0012018 any functional anomaly of the tube through which the ova pass from the ovary to the uterus https://orcid.org/0000-0003-4606-0597 any functional anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the oviduct csmith 2013-08-08T10:19:22Z MPheno.ontology MP:0012019 abnormal oviduct epithelium motile cilium physiology MP:0012019 any functional anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the oviduct https://orcid.org/0000-0003-4606-0597 any functional anomaly in the epithelial cells that line the interior of the nose csmith 2013-08-08T11:32:39Z abnormal nasal epithelium physiology MPheno.ontology MP:0012020 abnormal olfactory epithelium physiology MP:0012020 any functional anomaly in the epithelial cells that line the interior of the nose https://orcid.org/0000-0003-4606-0597 deviation from the average number of the cells that produce pigment csmith 2013-08-08T12:14:54Z MPheno.ontology MP:0012021 abnormal melanocyte number MP:0012021 deviation from the average number of the cells that produce pigment MGI:llw2 greater number of the cells that produce pigment csmith 2013-08-08T12:21:42Z MPheno.ontology MP:0012022 increased melanocyte number MP:0012022 greater number of the cells that produce pigment MGI:llw2 reduced number of the cells that produce pigment csmith 2013-08-08T12:21:42Z MPheno.ontology MP:0012023 decreased melanocyte number MP:0012023 reduced number of the cells that produce pigment MGI:llw2 any anomaly in the process in which the nephron is generated and organized; the nephron is the filtering unit of the kidney that includes the renal corpuscle, proximal and distal convoluted tubules, and loop of Henle csmith 2013-08-08T12:33:19Z MPheno.ontology MP:0012024 abnormal nephron morphogenesis MP:0012024 any anomaly in the process in which the nephron is generated and organized; the nephron is the filtering unit of the kidney that includes the renal corpuscle, proximal and distal convoluted tubules, and loop of Henle https://orcid.org/0000-0003-3691-0324 any structural anomaly of precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron csmith 2013-08-08T12:33:51Z abnormal CSB morphology MPheno.ontology MP:0012025 abnormal comma shaped body morphology MP:0012025 any structural anomaly of precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron GO:0072049 any structural anomaly of the successor of the comma-shaped body that contributes to the morphogenesis of the nephron csmith 2013-08-08T12:34:05Z abnormal SSB morphology abnormal stage II nephron morphology MPheno.ontology MP:0012026 abnormal S-shaped body morphology MP:0012026 any structural anomaly of the successor of the comma-shaped body that contributes to the morphogenesis of the nephron GO:0072050 embryonic cilia are displaced from the normal position and/or do not orient in a typical pattern csmith 2013-08-08T12:47:46Z MPheno.ontology abnormal embryonic cilium polarization MP:0012027 abnormal embryonic cilium location or orientation MP:0012027 embryonic cilia are displaced from the normal position and/or do not orient in a typical pattern https://orcid.org/0000-0003-3691-0324 any functional anomaly of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut csmith 2013-08-08T13:32:10Z MPheno.ontology MP:0012028 abnormal visceral endoderm physiology MP:0012028 any functional anomaly of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut PMID:21123814 https://orcid.org/0000-0003-3691-0324 any anomaly in the pattern of the graphic record of the integrated ensemble response from many vision related neuronal and glial populations as a consequence of the serial processing within the retina, represented as changes in voltage over time after visual photonic stimulation csmith 2013-08-08T14:02:21Z abnormal ERG waveform feature MPheno.ontology MP:0012029 abnormal electroretinogram waveform feature MP:0012029 any anomaly in the pattern of the graphic record of the integrated ensemble response from many vision related neuronal and glial populations as a consequence of the serial processing within the retina, represented as changes in voltage over time after visual photonic stimulation https://orcid.org/0000-0003-3691-0324 anomaly in the size (height or maximum displacement) of the a-wave as measured in the electroretinogram csmith 2013-08-08T14:07:48Z MPheno.ontology MP:0012030 abnormal a-wave amplitude MP:0012030 anomaly in the size (height or maximum displacement) of the a-wave as measured in the electroretinogram https://orcid.org/0000-0003-3691-0324 anomaly in the size (height or maximum displacement) of the b-wave as measured in the electroretinogram csmith 2013-08-08T14:08:11Z MPheno.ontology MP:0012031 abnormal b-wave amplitude MP:0012031 anomaly in the size (height or maximum displacement) of the b-wave as measured in the electroretinogram https://orcid.org/0000-0003-3691-0324 anomaly in the time from onset of stimulus to beginning of a waveform feature csmith 2013-08-08T14:11:57Z MPheno.ontology MP:0012032 abnormal ERG latency MP:0012032 anomaly in the time from onset of stimulus to beginning of a waveform feature http://webvision.med.utah.edu https://orcid.org/0000-0003-4606-0597 anomaly in the time from the onset of light stimulus to the peak of a waveform feature csmith 2013-08-08T14:12:39Z MPheno.ontology MP:0012033 abnormal ERG implicit time MP:0012033 anomaly in the time from the onset of light stimulus to the peak of a waveform feature http://webvision.med.utah.edu https://orcid.org/0000-0003-4606-0597 any anomaly in the graphical representation of the a-wave in the electroretinogram; the a-wave represents the general physiological health of the photoreceptors in the outer retina csmith 2013-08-08T14:18:49Z MPheno.ontology MP:0012034 abnormal a-wave shape MP:0012034 any anomaly in the graphical representation of the a-wave in the electroretinogram; the a-wave represents the general physiological health of the photoreceptors in the outer retina http://webvision.med.utah.edu https://orcid.org/0000-0003-3691-0324 any anomaly in the graphical representation of the b-wave in the electroretinogram; the b-wave represents the health of the inner layers of the retina, including the ON bipolar cells and the Muller cells csmith 2013-08-08T14:19:19Z MPheno.ontology MP:0012035 abnormal b-wave shape MP:0012035 any anomaly in the graphical representation of the b-wave in the electroretinogram; the b-wave represents the health of the inner layers of the retina, including the ON bipolar cells and the Muller cells http://webvision.med.utah.edu https://orcid.org/0000-0003-3691-0324 anomaly in the time from onset of stimulus to beginning of the a-wave csmith 2013-08-08T14:21:37Z MPheno.ontology MP:0012036 abnormal a-wave latency MP:0012036 anomaly in the time from onset of stimulus to beginning of the a-wave http://webvision.med.utah.edu https://orcid.org/0000-0003-4606-0597 anomaly in the time from onset of stimulus to beginning of the b-wave csmith 2013-08-08T14:21:37Z MPheno.ontology MP:0012037 abnormal b-wave latency MP:0012037 anomaly in the time from onset of stimulus to beginning of the b-wave http://webvision.med.utah.edu https://orcid.org/0000-0003-4606-0597 anomaly in the time from the onset of light stimulus to the peak of the a-wave csmith 2013-08-08T14:22:02Z MPheno.ontology MP:0012038 abnormal a-wave implicit time MP:0012038 anomaly in the time from the onset of light stimulus to the peak of the a-wave http://webvision.med.utah.edu https://orcid.org/0000-0003-4606-0597 anomaly in the time from the onset of light stimulus to the peak of the b-wave csmith 2013-08-08T14:22:02Z MPheno.ontology MP:0012039 abnormal b-wave implicit time MP:0012039 anomaly in the time from the onset of light stimulus to the peak of the b-wave http://webvision.med.utah.edu https://orcid.org/0000-0003-4606-0597 any anomaly in the graphical representation of the c-wave in the electroretinogram; the ERG c-wave can be used to assess the functional integrity of the photoreceptors, the pigment epithelial cells and the interactions between them. csmith 2013-08-08T14:51:43Z MPheno.ontology MP:0012040 abnormal c-wave shape MP:0012040 any anomaly in the graphical representation of the c-wave in the electroretinogram; the ERG c-wave can be used to assess the functional integrity of the photoreceptors, the pigment epithelial cells and the interactions between them. http:webvision.med.utah.edu/book/electrophysiology/the-electroretinogram-erg/ https://orcid.org/0000-0003-3691-0324 increased likelihood of the presence of an eosinophilic hyaline (glass-like) material composed of fibrin, proteinaceous exudate and cellular debris, and lining or filling the alveoli, alveolar ducts and bronchioles csmith 2013-08-08T15:13:23Z decreased resistance to pulmonary hyaline membrane formation susceptible to pulmonary hyaline membrane formation MPheno.ontology MP:0012041 increased susceptibility to pulmonary hyaline membrane formation MP:0012041 increased likelihood of the presence of an eosinophilic hyaline (glass-like) material composed of fibrin, proteinaceous exudate and cellular debris, and lining or filling the alveoli, alveolar ducts and bronchioles https://orcid.org/0000-0001-5208-3432 decreased predilection to ingest alcohol over other substances csmith 2013-08-08T15:18:26Z MPheno.ontology MP:0012042 low alcohol preference MP:0012042 decreased predilection to ingest alcohol over other substances https://orcid.org/0000-0001-5208-3432 greater than the expected occurrence of a benign tumor of myoepithelial cells, occurring in a specific population in a given time period csmith 2013-08-08T15:24:38Z increased benign myoepithelial tumor incidence increased benign myoepithelial tumour incidence increased myoepithelial adenoma incidence MPheno.ontology MP:0012043 increased myoepithelioma incidence MP:0012043 greater than the expected occurrence of a benign tumor of myoepithelial cells, occurring in a specific population in a given time period ISBN:0-683-40008-8 any anomaly in the amount of any of the enzymes that hydrolize the acyl group attached to the two-position of phosphoglycerides csmith 2013-08-08T15:50:44Z MPheno.ontology MP:0012044 abnormal phospholipase A2 level MP:0012044 any anomaly in the amount of any of the enzymes that hydrolize the acyl group attached to the two-position of phosphoglycerides MESH:D08.811.277.352.100.680.750.937 more likely than normal to develop sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states csmith 2013-08-08T16:02:34Z MPheno.ontology MP:0012045 increased susceptibility to hypertension MP:0012045 more likely than normal to develop sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states https://orcid.org/0000-0001-5208-3432 less likely than normal to develop sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states csmith 2013-08-08T16:02:34Z MPheno.ontology MP:0012046 decreased susceptibility to hypertension MP:0012046 less likely than normal to develop sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states https://orcid.org/0000-0001-5208-3432 anomaly in the amount of any of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid csmith 2013-08-08T16:07:51Z MPheno.ontology MP:0012047 abnormal cholinesterase level MP:0012047 anomaly in the amount of any of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid https://orcid.org/0000-0001-5208-3432 altered response to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of the retina csmith 2013-08-09T08:33:35Z abnormal response to retina ischaemic injury abnormal response to retinal ischaemic injury abnormal response to retinal ischemic injury altered response to retinal ischaemic injury altered response to retinal ischemic injury MPheno.ontology MP:0012048 abnormal response to retina ischemic injury MP:0012048 altered response to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of the retina https://orcid.org/0000-0003-3691-0324 more severe response, such as increased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of the retina compared to controls csmith 2013-08-09T08:35:35Z increased susceptilbility to retinal ischaemic injury increased susceptilbility to retinal ischemic injury MPheno.ontology increased susceptilbility to retinal ischaemia increased susceptilbility to retinal ischemia MP:0012049 increased susceptilbility to retina ischemic injury MP:0012049 more severe response, such as increased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of the retina compared to controls https://orcid.org/0000-0002-6490-7723 less severe response, such as decreased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of the retina compared to controls csmith 2013-08-09T08:35:35Z decreased susceptilbility to retinal ischaemic injury decreased susceptilbility to retinal ischemic injury MPheno.ontology decreased susceptilbility to retinal ischaemia decreased susceptilbility to retinal ischemia MP:0012050 decreased susceptilbility to retina ischemic injury MP:0012050 less severe response, such as decreased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of the retina compared to controls https://orcid.org/0000-0002-6490-7723 a motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes and increased resistance to stretch csmith 2013-08-09T08:50:57Z HP:0001257 UMLS:C0026838 MPheno.ontology MP:0012051 spasticity MP:0012051 a motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes and increased resistance to stretch HP:0001257 https://orcid.org/0000-0003-3691-0324 abnormally increased muscle tone or strength that impairs proper movement csmith 2013-08-09T08:53:14Z MPheno.ontology MP:0012052 hypertonicity MP:0012052 abnormally increased muscle tone or strength that impairs proper movement https://orcid.org/0000-0003-3691-0324 limbs exhibit abnormally increased muscle tone; can be due to muscle genetic defects or some CNS disorders and may be evident in arm or leg deformities csmith 2013-08-09T08:53:46Z limb hypertonia MPheno.ontology MP:0012053 limb hypertonicity MP:0012053 limbs exhibit abnormally increased muscle tone; can be due to muscle genetic defects or some CNS disorders and may be evident in arm or leg deformities https://orcid.org/0000-0003-3691-0324 any changes in the placement, morphology or number of phrenic nerve fibers providing motor supply to the diaphragm as well as sensory fibers to the central tendon, or in the thorax, phrenic nerve sensory fibers to the mediastinal pleura and pericardium csmith 2013-08-09T09:08:34Z MPheno.ontology MP:0012054 abnormal phrenic nerve innervation pattern MP:0012054 any changes in the placement, morphology or number of phrenic nerve fibers providing motor supply to the diaphragm as well as sensory fibers to the central tendon, or in the thorax, phrenic nerve sensory fibers to the mediastinal pleura and pericardium https://orcid.org/0000-0003-3691-0324 any changes in the placement, morphology or number of the portion of phrenic nerve fibers providing motor supply to the diaphragm csmith 2013-08-09T09:15:57Z MPheno.ontology MP:0012055 abnormal phrenic nerve innervation pattern to diaphragm MP:0012055 any changes in the placement, morphology or number of the portion of phrenic nerve fibers providing motor supply to the diaphragm https://orcid.org/0000-0003-3691-0324 any structural anomaly of the trophectoderm portion that surrounds the inner cell mass (ICM); unlike mural trophectoderm cells which stop proliferating and become large polyploid cells (the primary trophoblastic giant cells) by endoreduplication, polar trophectoderm cells remain diploid, continue to proliferate and give rise to both the ectoplacental cone and the extraembryonic ectoderm csmith 2013-08-09T09:21:13Z MPheno.ontology MP:0012056 abnormal polar trophectoderm morphology MP:0012056 any structural anomaly of the trophectoderm portion that surrounds the inner cell mass (ICM); unlike mural trophectoderm cells which stop proliferating and become large polyploid cells (the primary trophoblastic giant cells) by endoreduplication, polar trophectoderm cells remain diploid, continue to proliferate and give rise to both the ectoplacental cone and the extraembryonic ectoderm https://orcid.org/0000-0002-6490-7723 any structural anomaly of the trophectoderm portion distal to the ICM that overlays the blastocyst cavity and gives rise to polyploid trophoblast giant cells csmith 2013-08-09T09:21:13Z MPheno.ontology MP:0012057 abnormal mural trophectoderm morphology MP:0012057 any structural anomaly of the trophectoderm portion distal to the ICM that overlays the blastocyst cavity and gives rise to polyploid trophoblast giant cells https://orcid.org/0000-0002-6490-7723 any structural anomaly of the globular solid mass of blastomeres formed by cleavage of a zygote that typically precedes the blastula, typically after the zygote has divided into 32 cells csmith 2013-08-09T09:32:07Z MPheno.ontology MP:0012058 abnormal morula morphology MP:0012058 any structural anomaly of the globular solid mass of blastomeres formed by cleavage of a zygote that typically precedes the blastula, typically after the zygote has divided into 32 cells https://orcid.org/0000-0002-6490-7723 increased thickness of the diaphragm muscle csmith 2013-08-09T09:56:49Z MPheno.ontology MP:0012059 thick diaphragm muscle MP:0012059 increased thickness of the diaphragm muscle https://orcid.org/0000-0003-4606-0597 increase in the number of normal cells in normal arrangement in the diaphragm muscle, typically resulting in increased size csmith 2013-08-10T08:44:06Z hyperplastic diaphragm muscle MPheno.ontology MP:0012060 diaphragm muscle hyperplasia MP:0012060 increase in the number of normal cells in normal arrangement in the diaphragm muscle, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the three-lobed cloverleaf-shaped aponeurosis situated at the center of the diaphragm; the central tendon is fused with the fibrous pericardium that provides attachment for the muscle fibers csmith 2013-08-10T08:47:07Z abnormal central tendon of diaphragm morphology MPheno.ontology MP:0012061 abnormal diaphragm central tendon morphology MP:0012061 any structural anomaly of the three-lobed cloverleaf-shaped aponeurosis situated at the center of the diaphragm; the central tendon is fused with the fibrous pericardium that provides attachment for the muscle fibers https://orcid.org/0000-0003-3691-0324 decreased size or area of the primordial region of the embryo that arises to form the tail of the adult csmith 2013-08-10T09:06:20Z decreased tail bud size reduced tail bud size MPheno.ontology MP:0012062 small tail bud MP:0012062 decreased size or area of the primordial region of the embryo that arises to form the tail of the adult https://orcid.org/0000-0002-6490-7723 missing the primordial region of the embryo that arises to form the tail of the adult csmith 2013-08-10T09:06:20Z MPheno.ontology MP:0012063 absent tail bud MP:0012063 missing the primordial region of the embryo that arises to form the tail of the adult https://orcid.org/0000-0002-6490-7723 anomaly in the number of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord csmith 2013-08-10T09:10:22Z abnormal astrocytic glia number abnormal astroglia number abnormal astroglial cell number MPheno.ontology MP:0012064 abnormal astrocyte number MP:0012064 anomaly in the number of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord CL:0000127 https://orcid.org/0000-0003-3691-0324 increase in the number of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord csmith 2013-08-10T09:10:22Z increased astrocytic glia number increased astroglial cell number MPheno.ontology MP:0012065 increased astrocyte number MP:0012065 increase in the number of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord CL:0000127 https://orcid.org/0000-0003-3691-0324 reduction in the number of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord csmith 2013-08-10T09:10:22Z decreased astrocytic glia number decreased astroglia number decreased astroglial cell number reduced astrocyte number reduced astrocytic glia number MPheno.ontology MP:0012066 decreased astrocyte number MP:0012066 reduction in the number of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord CL:0000127 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the Bowman's glands (aka glands of Bowman, olfactory glands), situated in the olfactory mucosa, beneath the olfactory epithelium, in the lamina propria, a connective tissue also containing fibroblasts, blood vessels, and bundles of fine axons from the olfactory neurons; Bowman's glands consists of an acinus in the lamina propria and a secretory duct going out through the olfactory epithelium csmith 2013-08-10T10:39:49Z abnormal Bowman's gland morphology abnormal olfactory gland of Bowman morphology MPheno.ontology MP:0012067 abnormal olfactory gland morphology MP:0012067 any structural anomaly of the Bowman's glands (aka glands of Bowman, olfactory glands), situated in the olfactory mucosa, beneath the olfactory epithelium, in the lamina propria, a connective tissue also containing fibroblasts, blood vessels, and bundles of fine axons from the olfactory neurons; Bowman's glands consists of an acinus in the lamina propria and a secretory duct going out through the olfactory epithelium UBERON:0002232 any structural anomaly of the rounded or elliptical epithelial cells, with pale-staining open face nucleus and pale cytoplasm rich in free ribosomes and clusters of centrioles, that form a distinct basal zone spaced slightly from the basal surface of the olfactory epithelium csmith 2013-08-10T10:47:39Z abnormal globose cell morphology abnormal globose basal cell morphology MPheno.ontology MP:0012068 abnormal globose cell of olfactory epithelium morphology MP:0012068 any structural anomaly of the rounded or elliptical epithelial cells, with pale-staining open face nucleus and pale cytoplasm rich in free ribosomes and clusters of centrioles, that form a distinct basal zone spaced slightly from the basal surface of the olfactory epithelium CL:0002171 any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the basal lamina of olfactory epithelium csmith 2013-08-10T10:56:08Z abnormal horizontal basal cells abnormal basal proper cell of olfactory epithelium morphology abnormal horizontal basal cell morphology MPheno.ontology MP:0012069 abnormal horizontal basal cell of olfactory epithelium morphology MP:0012069 any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the basal lamina of olfactory epithelium CL:0002184 a change in the likelihood that an organism will develop a reduction in bone mass or atrophy of skeletal tissue, usually accompanied by gross changes to bone matrix, leading to bone fragility csmith 2013-08-10T11:23:30Z altered susceptibility to osteoporosis MPheno.ontology MP:0012070 abnormal susceptibility to osteoporosis MP:0012070 a change in the likelihood that an organism will develop a reduction in bone mass or atrophy of skeletal tissue, usually accompanied by gross changes to bone matrix, leading to bone fragility https://orcid.org/0000-0003-3691-0324 greater likelihood that an organism will develop a reduction in bone mass or atrophy of skeletal tissue, usually accompanied by gross changes to bone matrix, leading to bone fragility csmith 2013-08-10T11:24:33Z decreased resistance to osteoporosis MPheno.ontology increased susceptibility to bone loss MP:0012071 increased susceptibility to osteoporosis MP:0012071 greater likelihood that an organism will develop a reduction in bone mass or atrophy of skeletal tissue, usually accompanied by gross changes to bone matrix, leading to bone fragility https://orcid.org/0000-0003-3691-0324 reduced likelihood that an organism will develop a reduction in bone mass or atrophy of skeletal tissue, usually accompanied by gross changes to bone matrix, leading to bone fragility csmith 2013-08-10T11:24:33Z increased resistance to osteoporosis reduced susceptibility to osteoporosis MPheno.ontology decreased susceptibility to bone loss MP:0012072 decreased susceptibility to osteoporosis MP:0012072 reduced likelihood that an organism will develop a reduction in bone mass or atrophy of skeletal tissue, usually accompanied by gross changes to bone matrix, leading to bone fragility https://orcid.org/0000-0003-3691-0324 faster progression of the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation in preparation for lactation csmith 2013-08-10T18:24:43Z MPheno.ontology MP:0012073 premature mammary gland growth during pregnancy MP:0012073 faster progression of the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation in preparation for lactation MGI:llw2 arrest, or failure to initiate the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation in preparation for lactation csmith 2013-08-10T18:24:43Z arrested mammary gland growth during pregnancy MPheno.ontology MP:0012074 failure of mammary gland growth during pregnancy MP:0012074 arrest, or failure to initiate the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation in preparation for lactation MGI:llw2 defect in the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation in preparation for lactation csmith 2013-08-10T18:24:43Z MPheno.ontology MP:0012075 impaired mammary gland growth during pregnancy MP:0012075 defect in the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation in preparation for lactation MGI:llw2 amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is variably increased or decreased compared with a wild-type agouti pattern resulting in a range of coat color from yellow to almost black csmith 2013-08-10T20:58:27Z MPheno.ontology MP:0012076 This term is rodent specific. abnormal agouti pigmentation MP:0012076 amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is variably increased or decreased compared with a wild-type agouti pattern resulting in a range of coat color from yellow to almost black MGI:llw2 the skin on the neck appears as loose folds that develop a web-like appearance from the ears to the shoulder during growth and maturation csmith 2013-08-11T07:43:28Z pterygium colli deformity MPheno.ontology MP:0012077 Webbed neck describes a condition that occurs in patients with Turner syndrome, Noonan syndrome, and less frequently Klippel-Feil syndrome. webbed neck MP:0012077 the skin on the neck appears as loose folds that develop a web-like appearance from the ears to the shoulder during growth and maturation https://orcid.org/0000-0003-0431-8641 any structural anomaly of the segmentally patterned skin ridges appearing on the tail of rodents csmith 2013-08-11T08:23:29Z abnormal tail band morphology abnormal tail ridge morphology MPheno.ontology MP:0012078 abnormal tail ring morphology MP:0012078 any structural anomaly of the segmentally patterned skin ridges appearing on the tail of rodents https://orcid.org/0000-0003-3691-0324 any anomaly in the reflexive action mediated by cells of the spinal cord, or the involuntary movement reaction caused by the application of a stimulus to an organism; these include signals originating from heat from burning, sharp sensations, and other painful feelings csmith 2013-08-11T08:37:41Z GO:0050883 MPheno.ontology MP:0012079 abnormal spinal reflex MP:0012079 any anomaly in the reflexive action mediated by cells of the spinal cord, or the involuntary movement reaction caused by the application of a stimulus to an organism; these include signals originating from heat from burning, sharp sensations, and other painful feelings GO:0050883 https://orcid.org/0000-0003-3691-0324 the extravasation of milky triglyceride-rich chyle into the peritoneal cavity; often a secondary symptom of neoplasms csmith 2013-08-11T09:07:40Z MPheno.ontology MP:0012080 chylous ascites MP:0012080 the extravasation of milky triglyceride-rich chyle into the peritoneal cavity; often a secondary symptom of neoplasms https://orcid.org/0000-0003-3691-0324 absence of the primitive epithelial cardiac tube before the division into the chambers of the mature heart csmith 2013-09-13T09:33:35Z absent cardiac tube cardiac tube agenesis heart tube agenesis missing heart tube MPheno.ontology MP:0012081 absent heart tube MP:0012081 absence of the primitive epithelial cardiac tube before the division into the chambers of the mature heart https://orcid.org/0000-0002-6490-7723 late onset of the induction and/or differentiation of the heart csmith 2013-09-13T09:40:56Z delayed cardiac development delayed cardiogenesis MPheno.ontology MP:0012082 delayed heart development MP:0012082 late onset of the induction and/or differentiation of the heart https://orcid.org/0000-0002-6490-7723 absence of the anterior portion of the primitive digestive tube of the embryo that lies cephalic to the junction of the yolk stalk, consists of endodermal tissue, and gives rise to the pharynx, lower respiratory system, esophagus, stomach, duodenum proximal to the biliary tract, liver, pancreas, biliary tract, and gall bladder csmith 2013-09-13T09:54:53Z foregut agenesis missing foregut MPheno.ontology MP:0012083 absent foregut MP:0012083 absence of the anterior portion of the primitive digestive tube of the embryo that lies cephalic to the junction of the yolk stalk, consists of endodermal tissue, and gives rise to the pharynx, lower respiratory system, esophagus, stomach, duodenum proximal to the biliary tract, liver, pancreas, biliary tract, and gall bladder https://orcid.org/0000-0002-6490-7723 shortened foregut that terminates abruptly as if having an end or point cut off csmith 2013-09-13T09:57:13Z MPheno.ontology MP:0012084 truncated foregut MP:0012084 shortened foregut that terminates abruptly as if having an end or point cut off https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the midface, typically resulting in decreased size and leading to a concave-looking face csmith 2013-09-13T10:04:32Z hypoplastic midface mid-face hypoplasia midface retrusion midfacial hypoplasia MPheno.ontology MP:0012085 midface hypoplasia MP:0012085 decrease in the number of normal cells in normal arrangement in the midface, typically resulting in decreased size and leading to a concave-looking face https://orcid.org/0000-0002-6490-7723 midface retrusion https://www.ncbi.nlm.nih.gov/medgen/339938 absence of the caudal portion of the primitive digestive tube of the embryo csmith 2013-09-13T10:20:48Z hindgut agenesis missing hindgut MPheno.ontology MP:0012086 absent hindgut MP:0012086 absence of the caudal portion of the primitive digestive tube of the embryo https://orcid.org/0000-0002-6490-7723 absence of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes csmith 2013-09-13T10:32:14Z absent mesencephalon mesencephalon agenesis midbrain agenesis missing mesencephalon missing midbrain MPheno.ontology MP:0012087 absent midbrain MP:0012087 absence of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes https://orcid.org/0000-0002-6490-7723 deviation from the average range of midbrain size compared to normal csmith 2013-09-13T10:32:14Z abnormal mesencephalon size MPheno.ontology MP:0012088 abnormal midbrain size MP:0012088 deviation from the average range of midbrain size compared to normal https://orcid.org/0000-0002-6490-7723 size reduction or truncation of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes csmith 2013-09-13T10:32:14Z decreased mesencephalon size reduced mesencephalon size reduced midbrain size small mesencephalon small midbrain truncated mesencephalon truncated midbrain MPheno.ontology MP:0012089 decreased midbrain size MP:0012089 size reduction or truncation of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the midbrain, typically resulting in decreased size csmith 2013-09-13T10:32:14Z hypoplastic mesencephalon hypoplastic midbrain mesencephalon hypoplasia MPheno.ontology MP:0012090 midbrain hypoplasia MP:0012090 decrease in the number of normal cells in normal arrangement in the midbrain, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 greater than average size of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes csmith 2013-09-13T10:32:14Z enlarged mesencephalon enlarged midbrain expanded mesencephalon expanded midbrain increased mesencephalon size MPheno.ontology MP:0012091 increased midbrain size MP:0012091 greater than average size of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 decrease in the number of normal cells in normal arrangement in the diencephalon, typically resulting in decreased size csmith 2013-09-13T12:57:11Z betweenbrain hypoplasia hypoplastic diencephalon interbrain hypoplasia thalamencephalon hypoplasia MPheno.ontology MP:0012092 diencephalon hypoplasia MP:0012092 decrease in the number of normal cells in normal arrangement in the diencephalon, typically resulting in decreased size MGI:rbabiuk absence of the leftward movement of extra-embryonic fluid at the ventral node; nodal flow is autonomously generated by the rotation of cilia that are tilted toward the posterior on cells of the ventral node and is the central process in symmetry breaking on the left-right axis; when nodal cilia are immotile or absent, nodal flow does not occur csmith 2013-09-23T11:05:41Z MPheno.ontology MP:0012093 absent nodal flow MP:0012093 absence of the leftward movement of extra-embryonic fluid at the ventral node; nodal flow is autonomously generated by the rotation of cilia that are tilted toward the posterior on cells of the ventral node and is the central process in symmetry breaking on the left-right axis; when nodal cilia are immotile or absent, nodal flow does not occur https://orcid.org/0000-0002-6490-7723 anomaly in the width of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm csmith 2013-09-23T11:54:48Z MPheno.ontology MP:0012094 abnormal Reichert's membrane thickness MP:0012094 anomaly in the width of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm https://orcid.org/0000-0002-6490-7723 increased width of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm csmith 2013-09-23T11:54:48Z increased Reichert's membrane width thick Reichert's membrane thickened Reichert's membrane MPheno.ontology MP:0012095 increased Reichert's membrane thickness MP:0012095 increased width of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm https://orcid.org/0000-0002-6490-7723 reduced width of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm csmith 2013-09-23T11:54:48Z reduced Reichert's membrane width thin Reichert's membrane thinned Reichert's membrane MPheno.ontology MP:0012096 decreased Reichert's membrane thickness MP:0012096 reduced width of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm https://orcid.org/0000-0002-6490-7723 anomaly in the size of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors csmith 2013-09-23T13:28:44Z MPheno.ontology MP:0012097 abnormal spongiotrophoblast size MP:0012097 anomaly in the size of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors https://orcid.org/0000-0003-3691-0324 greater size of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors csmith 2013-09-23T13:28:44Z enlarged spongiotrophoblast layer expanded spongiotrophoblast layer MPheno.ontology MP:0012098 increased spongiotrophoblast size MP:0012098 greater size of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors https://orcid.org/0000-0003-3691-0324 reduction of the size of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors csmith 2013-09-23T13:28:44Z reduced spongiotrophoblast layer reduced spongiotrophoblast size small spongiotrophoblast layer MPheno.ontology MP:0012099 decreased spongiotrophoblast size MP:0012099 reduction of the size of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors https://orcid.org/0000-0003-3691-0324 absence of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors csmith 2013-09-23T13:28:44Z MPheno.ontology MP:0012100 absent spongiotrophoblast layer MP:0012100 absence of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors https://orcid.org/0000-0003-3691-0324 absence of the pupil of the eye csmith 2013-09-23T13:51:03Z absent pupil(s) pupil agenesis MPheno.ontology MP:0012101 acoria MP:0012101 absence of the pupil of the eye https://orcid.org/0000-0002-6490-7723 absence of the outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition csmith 2013-09-23T14:13:07Z absent trophectoderm layer MPheno.ontology failure to form trophectoderm MP:0012102 absent trophectoderm MP:0012102 absence of the outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition https://orcid.org/0000-0002-6490-7723 any structural anomaly of the flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc csmith 2013-09-23T14:17:51Z abnormal bilaminar embryonic disc morphology abnormal embryonic disc morphology abnormal embryonic disk morphology abnormal embryonic shield morphology abnormal germinal disc morphology abnormal germinal disk morphology MPheno.ontology MP:0012103 abnormal bilaminar embryonic disk morphology MP:0012103 any structural anomaly of the flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc https://orcid.org/0000-0002-6490-7723 reduced size of the closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds csmith 2013-09-23T14:26:09Z decreased amniotic cavity size reduced amniotic cavity size MPheno.ontology MP:0012104 small amniotic cavity MP:0012104 reduced size of the closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds https://orcid.org/0000-0002-6490-7723 late onset of the development and invagination of the embryonic germ layers csmith 2013-09-23T14:28:59Z retarded gastrulation MPheno.ontology MP:0012105 in the mouse, gastrulation initiates at E6.5, as cells of the primitive ectoderm (epiblast) delaminate at the posterior side of the embryo and ingress through the primitive streak in an epithelial-to-mesenchymal transition delayed gastrulation MP:0012105 late onset of the development and invagination of the embryonic germ layers https://orcid.org/0000-0002-6490-7723 impaired performance during controlled physical activity csmith 2013-09-23T15:23:57Z MPheno.ontology decreased exercise endurance reduced exercise endurance MP:0012106 impaired exercise endurance MP:0012106 impaired performance during controlled physical activity https://orcid.org/0000-0003-4606-0597 improved performance during controlled physical activity csmith 2013-09-23T15:23:57Z prolonged exercise endurance MPheno.ontology increased exercise endurance MP:0012107 enhanced exercise endurance MP:0012107 improved performance during controlled physical activity https://orcid.org/0000-0003-4606-0597 greater number of the glycogen-accumulating trophoblast cells that arise in the junctional zone of the placenta csmith 2013-09-26T15:36:32Z MPheno.ontology MP:0012108 increased trophoblast glycogen cell number MP:0012108 greater number of the glycogen-accumulating trophoblast cells that arise in the junctional zone of the placenta https://orcid.org/0000-0003-3691-0324 reduced number of the glycogen-accumulating trophoblast cells that arise in the junctional zone of the placenta csmith 2013-09-26T15:36:57Z reduced trophoblast glycogen cell number MPheno.ontology MP:0012109 decreased trophoblast glycogen cell number MP:0012109 reduced number of the glycogen-accumulating trophoblast cells that arise in the junctional zone of the placenta https://orcid.org/0000-0003-3691-0324 greater number of the epidermal invaginations from which the hair shaft develops csmith 2013-09-26T15:43:53Z MPheno.ontology MP:0012110 increased hair follicle number MP:0012110 greater number of the epidermal invaginations from which the hair shaft develops https://orcid.org/0009-0005-7755-8314 inability to initiate or maintain the first cell differentiation event in mammalian development, occurring at the late eight-cell stage in the mouse, whereby cells on the outer part of the morula become flattened and bound tightly together with the formation of desmosomes and gap junctions, becoming nearly indistinguishable csmith 2013-09-26T15:58:08Z MPheno.ontology MP:0012111 failure of morula compaction MP:0012111 inability to initiate or maintain the first cell differentiation event in mammalian development, occurring at the late eight-cell stage in the mouse, whereby cells on the outer part of the morula become flattened and bound tightly together with the formation of desmosomes and gap junctions, becoming nearly indistinguishable https://orcid.org/0000-0002-6490-7723 enhanced expansion rate of the inner cell mass csmith 2013-09-26T16:07:00Z enhanced inner cell mass proliferation MPheno.ontology MP:0012112 increased inner cell mass proliferation MP:0012112 enhanced expansion rate of the inner cell mass https://orcid.org/0000-0003-4606-0597 reduced expansion rate of the inner cell mass csmith 2013-09-26T16:07:00Z reduced inner cell mass proliferation MPheno.ontology MP:0012113 decreased inner cell mass proliferation MP:0012113 reduced expansion rate of the inner cell mass https://orcid.org/0000-0003-4606-0597 absence of expansion of the inner cell mass csmith 2013-09-26T16:07:00Z MPheno.ontology MP:0012114 absent inner cell mass proliferation MP:0012114 absence of expansion of the inner cell mass https://orcid.org/0000-0003-4606-0597 any anomaly in the ability of a trophectoderm cell population to undergo expansion by cell division csmith 2013-09-26T16:08:29Z abnormal trophectodermal cell proliferation MPheno.ontology MP:0012115 abnormal trophectoderm cell proliferation MP:0012115 any anomaly in the ability of a trophectoderm cell population to undergo expansion by cell division https://orcid.org/0000-0002-6490-7723 increase in the expansion rate of a trophectoderm cell population by cell division csmith 2013-09-26T16:09:20Z increased trophectodermal cell proliferation MPheno.ontology MP:0012116 increased trophectoderm cell proliferation MP:0012116 increase in the expansion rate of a trophectoderm cell population by cell division https://orcid.org/0000-0002-6490-7723 decrease in the expansion rate of a trophectoderm cell population by cell division csmith 2013-09-26T16:09:20Z decreased trophectodermal cell proliferation reduced trophectoderm cell proliferation reduced trophectodermal cell proliferation MPheno.ontology MP:0012117 decreased trophectoderm cell proliferation MP:0012117 decrease in the expansion rate of a trophectoderm cell population by cell division https://orcid.org/0000-0002-6490-7723 failure of a trophectoderm cell population to undergo expansion by cell division csmith 2013-09-26T16:09:20Z absent trophectodermal cell proliferation MPheno.ontology MP:0012118 absent trophectoderm cell proliferation MP:0012118 failure of a trophectoderm cell population to undergo expansion by cell division https://orcid.org/0000-0002-6490-7723 increase in the number of trophectoderm cells undergoing programmed cell death csmith 2013-09-26T16:11:22Z MPheno.ontology MP:0012119 increased trophectoderm apoptosis MP:0012119 increase in the number of trophectoderm cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 a retrogressive impairment of function or destruction of trophectoderm cells csmith 2013-09-26T16:11:22Z MPheno.ontology MP:0012120 trophectoderm cell degeneration MP:0012120 a retrogressive impairment of function or destruction of trophectoderm cells https://orcid.org/0000-0002-6490-7723 a congenital anomaly of the eye in which partial or complete corneal opacity is present and resembles the sclera, with no clear boundary between these structures csmith 2013-10-08T13:42:26Z corneal sclerization MPheno.ontology MP:0012121 sclerocornea MP:0012121 a congenital anomaly of the eye in which partial or complete corneal opacity is present and resembles the sclera, with no clear boundary between these structures https://orcid.org/0000-0003-3691-0324 any anomaly in the radial light dispersion pattern of the iris when a focused light beam is passed through it; particular dispersion pattern anomalies are indicative of abnormalities in iris pigment distribution and for the presence of glaucoma, atrophy and/or infection csmith 2013-10-08T13:46:24Z MPheno.ontology MP:0012122 abnormal iris transillumination MP:0012122 any anomaly in the radial light dispersion pattern of the iris when a focused light beam is passed through it; particular dispersion pattern anomalies are indicative of abnormalities in iris pigment distribution and for the presence of glaucoma, atrophy and/or infection https://orcid.org/0000-0003-3691-0324 anomaly in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography csmith 2013-10-08T14:12:49Z abnormal bronchoconstriction response MPheno.ontology MP:0012123 abnormal bronchoconstrictive response MP:0012123 anomaly in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography https://orcid.org/0000-0003-3691-0324 enhanced or greater than expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography csmith 2013-10-08T14:13:21Z enhanced bronchoconstrictive response increased bronchoconstriction response MPheno.ontology MP:0012124 increased bronchoconstrictive response MP:0012124 enhanced or greater than expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography https://orcid.org/0000-0003-3691-0324 reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography csmith 2013-10-08T14:14:14Z decreased bronchoconstriction response reduced bronchoconstrictive response MPheno.ontology MP:0012125 decreased bronchoconstrictive response MP:0012125 reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography https://orcid.org/0000-0003-3691-0324 any structural anomaly of the three trophoblast cell layers found in rodent placentas between fetal blood vessels and maternal blood sinuses csmith 2013-10-08T14:46:08Z abnormal placenta haemotrichorial barrier abnormal placenta haemotrichorial layer abnormal placenta haemotrichorial membrane morphology abnormal placenta hemotrichorial barrier abnormal placenta hemotrichorial layer MPheno.ontology MP:0012126 The human placenta is hemomonochorial, as this membrane consists of a single layer of synctiotrophoblast at term. In mice maternal blood bathes a perforated layer of cytotrophoblast cells that overlay two layers of syncytiotrophoblast, thus the murine placenta is hemotrichorial. Maternal blood has direct access to the murine synctiotrophoblast layer I via fenestrations in the murine cytotrophoblast layer. abnormal placenta hemotrichorial membrane morphology MP:0012126 any structural anomaly of the three trophoblast cell layers found in rodent placentas between fetal blood vessels and maternal blood sinuses https://orcid.org/0000-0002-6490-7723 absence of the three trophoblast cell layers found in rodent placentas between fetal blood vessels and maternal blood sinuses csmith 2013-10-08T14:48:57Z absent placenta haemotrichorial barrier absent placenta haemotrichorial layer absent placenta haemotrichorial membrane absent placenta hemotrichorial barrier absent placenta hemotrichorial layer MPheno.ontology MP:0012127 The human placenta is hemomonochorial, as this membrane consists of a single layer of synctiotrophoblast at term. In mice maternal blood bathes a perforated layer of cytotrophoblast cells that overlay two layers of syncytiotrophoblast, thus the murine placenta is hemotrichorial. Maternal blood has direct access to the murine synctiotrophoblast layer I via fenestrations in the murine cytotrophoblast layer. absent placenta hemotrichorial membrane MP:0012127 absence of the three trophoblast cell layers found in rodent placentas between fetal blood vessels and maternal blood sinuses https://orcid.org/0000-0002-6490-7723 atypical formation of a blastocyst from a solid ball of cells known as a morula, including anomalies in the formation of a fluid-filled cavity (blastocoele) and/or initiation of inner cell mass and trophectoderm differentiation csmith 2013-10-08T15:17:10Z abnormal blastulation MPheno.ontology MP:0012128 abnormal blastocyst formation MP:0012128 atypical formation of a blastocyst from a solid ball of cells known as a morula, including anomalies in the formation of a fluid-filled cavity (blastocoele) and/or initiation of inner cell mass and trophectoderm differentiation https://orcid.org/0000-0002-6490-7723 inability to form a blastocyst from a solid ball of cells known as a morula csmith 2013-10-08T15:18:40Z absent blastocyst MPheno.ontology MP:0012129 failure of blastocyst formation MP:0012129 inability to form a blastocyst from a solid ball of cells known as a morula https://orcid.org/0000-0002-6490-7723 atypical formation of the spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum csmith 2013-10-08T15:44:16Z abnormal morulation MPheno.ontology MP:0012130 abnormal morula formation MP:0012130 atypical formation of the spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum https://orcid.org/0000-0002-6490-7723 reduced size of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo csmith 2013-10-08T15:46:33Z small secondary yolk sac small umbilical vesicle small vitelline sac small yolk sac MPheno.ontology MP:0012131 small visceral yolk sac MP:0012131 reduced size of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo https://orcid.org/0000-0002-6490-7723 any structural anomaly of the midbrain-hindbrain domain of the embryonic brain that is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; normally, an organizing center located at the boundary patterns the midbrain and hindbrain primordia of the neural plate csmith 2013-10-08T15:52:18Z MP:0006174 abnormal MHB morphology abnormal isthmic organizer morphology abnormal isthmomesencephalic boundary morphology abnormal isthmus morphology abnormal isthmus organizer morphology abnormal midbrain-hindbrain organizer morphology MPheno.ontology MP:0012132 abnormal midbrain-hindbrain boundary morphology MP:0012132 any structural anomaly of the midbrain-hindbrain domain of the embryonic brain that is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; normally, an organizing center located at the boundary patterns the midbrain and hindbrain primordia of the neural plate https://orcid.org/0000-0002-6490-7723 absence of the midbrain-hindbrain domain of the embryonic brain that is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; normally, an organizing center located at the boundary patterns the midbrain and hindbrain primordia of the neural plate csmith 2013-10-08T15:53:46Z absent MHB absent isthmic organizer absent isthmomesencephalic boundary absent isthmus absent isthmus organizer absent midbrain-hindbrain organizer MPheno.ontology MP:0012133 absent midbrain-hindbrain boundary MP:0012133 absence of the midbrain-hindbrain domain of the embryonic brain that is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; normally, an organizing center located at the boundary patterns the midbrain and hindbrain primordia of the neural plate https://orcid.org/0000-0002-6490-7723 absence of or failure to form the connective stalk between the fetus and the placenta csmith 2013-10-08T16:08:33Z absent chorda umbilicalis absent funiculus umbilicalis MPheno.ontology MP:0012134 absent umbilical cord MP:0012134 absence of or failure to form the connective stalk between the fetus and the placenta https://orcid.org/0000-0002-6490-7723 an invagination or pinching in the visceral endoderm that is centered at the boundary between embryonic and extra-embryonic regions of the developing embryo, often resulting in physical separation of embryonic and extraembryonic ectoderm csmith 2013-10-09T13:41:19Z MPheno.ontology MP:0012135 embryonic-extraembryonic boundary constriction MP:0012135 an invagination or pinching in the visceral endoderm that is centered at the boundary between embryonic and extra-embryonic regions of the developing embryo, often resulting in physical separation of embryonic and extraembryonic ectoderm https://orcid.org/0000-0003-3691-0324 absence of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) csmith 2013-10-09T15:20:00Z absent prosencephalon forebrain agenesis missing forebrain missing prosencephalon prosencephalon agenesis MPheno.ontology MP:0012136 absent forebrain MP:0012136 absence of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) GO:0048853 deviation from the average range of forebrain size compared to normal csmith 2013-10-09T15:20:00Z abnormal prosencephalon size MPheno.ontology MP:0012137 abnormal forebrain size MP:0012137 deviation from the average range of forebrain size compared to normal https://orcid.org/0000-0002-6490-7723 size reduction or truncation of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) csmith 2013-10-09T15:20:00Z decreased prosencephalon size reduced forebrain size reduced prosencephalon size small forebrain small prosencephalon truncated forebrain truncated prosencephalon MPheno.ontology MP:0012138 decreased forebrain size MP:0012138 size reduction or truncation of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) GO:0048853 greater than average size of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) csmith 2013-10-09T15:20:00Z enlarged forebrain enlarged prosencephalon expanded forebrain expanded prosencephalon increased prosencephalon size MPheno.ontology MP:0012139 increased forebrain size MP:0012139 greater than average size of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) GO:0048853 increase in the number of normal cells in normal arrangement in the forebrain, typically resulting in increased size csmith 2013-10-09T15:20:00Z hyperplastic forebrain hyperplastic prosencephalon prosencephalon hyperplasia MPheno.ontology MP:0012140 forebrain hyperplasia MP:0012140 increase in the number of normal cells in normal arrangement in the forebrain, typically resulting in increased size GO:0048853 absence of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived; the metencephalon (anterior part of the embryonic hindbrain), gives rise to the cerebellum and pons while the myelencephalon (posterior portion of the embryonic hindbrain) gives rise to the medulla oblongata csmith 2013-10-10T15:18:11Z absent rhombencephalon MPheno.ontology MP:0012141 absent hindbrain MP:0012141 absence of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived; the metencephalon (anterior part of the embryonic hindbrain), gives rise to the cerebellum and pons while the myelencephalon (posterior portion of the embryonic hindbrain) gives rise to the medulla oblongata https://orcid.org/0000-0002-6490-7723 absence of the closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds csmith 2013-10-10T16:03:38Z MPheno.ontology MP:0012142 absent amniotic cavity MP:0012142 absence of the closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds https://orcid.org/0000-0002-6490-7723 reduction in the size (height or maximum displacement) of the a-wave as measured in the electroretinogram csmith 2013-10-16T12:18:25Z attenuated a wave amplitude reduced a wave amplitude MPheno.ontology MP:0012143 decreased a-wave amplitude MP:0012143 reduction in the size (height or maximum displacement) of the a-wave as measured in the electroretinogram https://orcid.org/0000-0003-3691-0324 reduction in the size (height or maximum displacement) of the b-wave as measured in the electroretinogram csmith 2013-10-16T12:19:51Z attenuated b wave amplitude reduced b wave amplitude MPheno.ontology MP:0012144 decreased b-wave amplitude MP:0012144 reduction in the size (height or maximum displacement) of the b-wave as measured in the electroretinogram https://orcid.org/0000-0003-3691-0324 increase in the size (height or maximum displacement) of the a-wave as measured in the electroretinogram csmith 2013-10-16T12:26:15Z MPheno.ontology MP:0012145 increased a-wave amplitude MP:0012145 increase in the size (height or maximum displacement) of the a-wave as measured in the electroretinogram https://orcid.org/0000-0003-3691-0324 increase in the size (height or maximum displacement) of the b-wave as measured in the electroretinogram csmith 2013-10-16T12:26:32Z MPheno.ontology MP:0012146 increased b-wave amplitude MP:0012146 increase in the size (height or maximum displacement) of the b-wave as measured in the electroretinogram https://orcid.org/0000-0003-3691-0324 increase in the time from the onset of light stimulus to the peak of the a-wave csmith 2013-10-16T13:02:26Z delayed a-wave implicit time prolonged a-wave implicit time MPheno.ontology MP:0012147 increased a-wave implicit time MP:0012147 increase in the time from the onset of light stimulus to the peak of the a-wave https://orcid.org/0000-0003-4606-0597 decrease in the time from the onset of light stimulus to the peak of the a-wave csmith 2013-10-16T13:02:26Z faster a-wave implicit time MPheno.ontology MP:0012148 decreased a-wave implicit time MP:0012148 decrease in the time from the onset of light stimulus to the peak of the a-wave https://orcid.org/0000-0003-4606-0597 decrease in the time from the onset of light stimulus to the peak of the b-wave csmith 2013-10-16T13:02:53Z faster b-wave implicit time MPheno.ontology MP:0012149 decreased b-wave implicit time MP:0012149 decrease in the time from the onset of light stimulus to the peak of the b-wave https://orcid.org/0000-0003-4606-0597 increase in the time from the onset of light stimulus to the peak of the b-wave csmith 2013-10-16T13:02:53Z delayed b-wave implicit time prolonged b-wave implicit time MPheno.ontology MP:0012150 increased b-wave implicit time MP:0012150 increase in the time from the onset of light stimulus to the peak of the b-wave https://orcid.org/0000-0003-4606-0597 increase in the time from onset of stimulus to beginning of the a-wave csmith 2013-10-16T13:03:32Z prolonged a-wave latency MPheno.ontology MP:0012151 increased a-wave latency MP:0012151 increase in the time from onset of stimulus to beginning of the a-wave https://orcid.org/0000-0003-3691-0324 decrease in the time from onset of stimulus to beginning of the a-wave csmith 2013-10-16T13:03:32Z reduced a-wave latency MPheno.ontology MP:0012152 decreased a-wave latency MP:0012152 decrease in the time from onset of stimulus to beginning of the a-wave https://orcid.org/0000-0003-3691-0324 increase in the time from onset of stimulus to beginning of the b-wave csmith 2013-10-16T13:04:09Z prolonged b-wave latency MPheno.ontology MP:0012153 increased b-wave latency MP:0012153 increase in the time from onset of stimulus to beginning of the b-wave https://orcid.org/0000-0003-3691-0324 decrease in the time from onset of stimulus to beginning of the b-wave csmith 2013-10-16T13:04:09Z reduced b-wave latency MPheno.ontology MP:0012154 decreased b-wave latency MP:0012154 decrease in the time from onset of stimulus to beginning of the b-wave https://orcid.org/0000-0003-3691-0324 any structural anomaly of either of the two pits that appear bilaterally in the region destined to become the forebrain as the cranial neural folds fuse; these optic pits or sulci continue to deepen laterally and bulge from the two sides of the forebrain to become the optic vesicles csmith 2013-10-16T14:04:04Z abnormal optic sulcus morphology MPheno.ontology MP:0012155 abnormal optic pit morphology MP:0012155 any structural anomaly of either of the two pits that appear bilaterally in the region destined to become the forebrain as the cranial neural folds fuse; these optic pits or sulci continue to deepen laterally and bulge from the two sides of the forebrain to become the optic vesicles ISBN:978-0470712306 https://orcid.org/0000-0002-6490-7723 partial or complete duplication of rostral-caudal axis structures csmith 2013-10-16T14:06:57Z head-tail axis duplication rostro-caudal axis duplication A-P axis duplication anterior-posterior axis duplication MPheno.ontology MP:0012156 rostral-caudal axis duplication MP:0012156 partial or complete duplication of rostral-caudal axis structures https://orcid.org/0000-0002-6490-7723 rostral part of body truncated; typically with the caudal portion of the body relatively normal csmith 2013-10-16T14:08:13Z anterior truncation(s) rostral truncation(s) anterior body truncation MPheno.ontology MP:0012157 rostral body truncation MP:0012157 rostral part of body truncated; typically with the caudal portion of the body relatively normal https://orcid.org/0000-0003-3691-0324 absence of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut csmith 2013-10-16T14:18:43Z MPheno.ontology MP:0012158 absent visceral endoderm MP:0012158 absence of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut https://orcid.org/0000-0002-6490-7723 absence of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue csmith 2013-10-16T14:19:00Z MPheno.ontology MP:0012159 absent anterior visceral endoderm MP:0012159 absence of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue https://orcid.org/0000-0002-6490-7723 the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue occupies a greater area in the extraembryonic region csmith 2013-10-16T14:19:25Z broad anterior visceral endoderm MPheno.ontology MP:0012160 expanded anterior visceral endoderm MP:0012160 the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue occupies a greater area in the extraembryonic region https://orcid.org/0000-0002-6490-7723 absence of the precursors of the anterior visceral endoderm that arises at the distal tip of the embryo csmith 2013-10-16T14:19:41Z MPheno.ontology MP:0012161 absent distal visceral endoderm MP:0012161 absence of the precursors of the anterior visceral endoderm that arises at the distal tip of the embryo https://orcid.org/0000-0002-6490-7723 absence of the primitive endoderm-derived tissue that lines the luminal surface of the mural trophectoderm csmith 2013-10-16T14:20:03Z MPheno.ontology MP:0012162 absent parietal endoderm MP:0012162 absence of the primitive endoderm-derived tissue that lines the luminal surface of the mural trophectoderm https://orcid.org/0000-0002-6490-7723 any structural anomaly of the mesenchyme enclosed by dental organ csmith 2013-10-25T07:20:07Z abnormal dental organ mesenchyme morophology abnormal enamel organ mesenchyme morophology abnormal odontogenic mesenchyme morophology abnormal tooth enamel organ mesenchyme morophology abnormal tooth mesenchyme morophology MPheno.ontology MP:0012163 abnormal dental mesenchyme morphology MP:0012163 any structural anomaly of the mesenchyme enclosed by dental organ https://orcid.org/0000-0002-6490-7723 any structural anomaly of a goblet cell that is part of the epithelium of the conjunctiva, and is the source of tear mucins which are secreted from it csmith 2013-10-25T07:26:34Z abnormal conjunctival goblet cell morphology MPheno.ontology MP:0012164 abnormal conjunctiva goblet cell morphology MP:0012164 any structural anomaly of a goblet cell that is part of the epithelium of the conjunctiva, and is the source of tear mucins which are secreted from it https://orcid.org/0000-0003-3691-0324 absence of the elevated margins of the neural groove csmith 2013-10-25T08:10:21Z MPheno.ontology MP:0012165 absent neural folds MP:0012165 absence of the elevated margins of the neural groove https://orcid.org/0000-0003-3691-0324 absence of the flat, thickened layer of ectodermal cells in the neuroectodermal area of the embryo's dorsal surface that develops into the neural tube and neural crest csmith 2013-10-25T08:10:36Z MPheno.ontology MP:0012166 absent neural plate MP:0012166 absence of the flat, thickened layer of ectodermal cells in the neuroectodermal area of the embryo's dorsal surface that develops into the neural tube and neural crest https://orcid.org/0000-0002-6490-7723 any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA sequence csmith 2013-10-30T13:36:59Z MPheno.ontology MP:0012167 abnormal epigenetic regulation of gene expression MP:0012167 any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA sequence GO:0040029 any structural anomaly of the paired thickenings of surface ectoderm that become invaginated to form the embryonic lens vesicles csmith 2013-10-30T15:40:54Z abnormal lens placode morphology MPheno.ontology MP:0012168 abnormal optic placode morphology MP:0012168 any structural anomaly of the paired thickenings of surface ectoderm that become invaginated to form the embryonic lens vesicles https://orcid.org/0000-0002-6490-7723 a retrogressive impairment of function or destruction of the paired thickenings of surface ectoderm that normally become invaginated to form the embryonic lens vesicles csmith 2013-10-30T15:41:50Z lens placode degeneration MPheno.ontology MP:0012169 optic placode degeneration MP:0012169 a retrogressive impairment of function or destruction of the paired thickenings of surface ectoderm that normally become invaginated to form the embryonic lens vesicles https://orcid.org/0000-0002-6490-7723 absence of the paired thickenings of surface ectoderm that normally become invaginated to form the embryonic lens vesicles csmith 2013-10-30T15:41:50Z absent lens placodes MPheno.ontology MP:0012170 absent optic placodes MP:0012170 absence of the paired thickenings of surface ectoderm that normally become invaginated to form the embryonic lens vesicles https://orcid.org/0000-0002-6490-7723 presence of an abnormally low amniotic fluid volume in the amniotic sac; the opposite of polyhydramnios csmith 2013-10-30T15:58:46Z hypamnion hypamnios oligamnios oligoamnios MPheno.ontology MP:0012171 oligohydramnios MP:0012171 presence of an abnormally low amniotic fluid volume in the amniotic sac; the opposite of polyhydramnios https://orcid.org/0000-0002-6490-7723 any alteration in the expected chemical makeup of the watery liquid within the amnion that surrounds and cushions a growing fetus; normally, early in gestation, amniotic fluid is similar to maternal plasma, mainly water with electrolytes, and later in gestation, proteins, carbohydrates, lipids, phospholipids originating from the lungs, fetal cells, and urea are deposited in the fluid csmith 2013-10-30T16:03:31Z abnormal acqua amnii composition abnormal liquor amnii composition MPheno.ontology MP:0012172 abnormal amniotic fluid composition MP:0012172 any alteration in the expected chemical makeup of the watery liquid within the amnion that surrounds and cushions a growing fetus; normally, early in gestation, amniotic fluid is similar to maternal plasma, mainly water with electrolytes, and later in gestation, proteins, carbohydrates, lipids, phospholipids originating from the lungs, fetal cells, and urea are deposited in the fluid https://orcid.org/0000-0002-6490-7723 length reduction or truncation of the axis that runs from the head to the tail of the body csmith 2013-10-31T11:51:35Z short A-P axis short anterior-posterior axis short head-tail axis short rostro-caudal axis truncated A-P axis truncated head-tail axis truncated rostral-caudal axis truncated rostro-caudal axis MPheno.ontology MP:0012173 short rostral-caudal axis MP:0012173 length reduction or truncation of the axis that runs from the head to the tail of the body https://orcid.org/0000-0002-6490-7723 the appearance of a flattened surface outline or contour of a normally rounded head of an organism csmith 2013-10-31T12:00:29Z flattened head head flattening MPheno.ontology MP:0012174 flat head MP:0012174 the appearance of a flattened surface outline or contour of a normally rounded head of an organism https://orcid.org/0000-0002-6490-7723 the appearance of a flattened surface outline or contour of a normally rounded face of an organism csmith 2013-10-31T12:23:30Z flattened face MPheno.ontology MP:0012175 flat face MP:0012175 the appearance of a flattened surface outline or contour of a normally rounded face of an organism https://orcid.org/0000-0002-6490-7723 anomaly in the process in which the anatomical structures of the head are generated and organized csmith 2013-10-31T12:31:22Z abnormal cephalic development abnormal cephalogenesis MPheno.ontology MP:0012176 abnormal head development MP:0012176 anomaly in the process in which the anatomical structures of the head are generated and organized GO:0060323 late onset of the induction and/or differentiation of the head csmith 2013-10-31T12:37:57Z delayed cephalic development delayed cephalogenesis retarded cephalic development retarded cephalogenesis retarded head development MPheno.ontology MP:0012177 delayed head development MP:0012177 late onset of the induction and/or differentiation of the head https://orcid.org/0000-0002-6490-7723 absence of the unpaired embryonic prominence that is formed by the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout csmith 2013-10-31T12:47:28Z absent forebrain process absent forebrain prominence absent frontonasal mass absent frontonasal process MPheno.ontology MP:0012178 absent frontonasal prominence MP:0012178 absence of the unpaired embryonic prominence that is formed by the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout https://orcid.org/0000-0002-6490-7723 any structural abnormality of the inner layer of lateral plate mesoderm, located above (dorsally) the endoderm, which forms the circulatory system and future gut wall csmith 2013-10-31T13:02:46Z abnormal inner layer of lateral plate mesoderm abnormal splanchnic layer of lateral plate mesoderm abnormal visceral mesoderm morphology MPheno.ontology MP:0012179 abnormal splanchnic mesoderm morphology MP:0012179 any structural abnormality of the inner layer of lateral plate mesoderm, located above (dorsally) the endoderm, which forms the circulatory system and future gut wall https://orcid.org/0000-0002-6490-7723 any structural abnormality of the outer layer of lateral plate mesoderm, located under (ventrally) the ectoderm, which forms the future body wall csmith 2013-10-31T13:02:46Z abnormal outer layer of lateral plate mesoderm abnormal parietal mesoderm morphology abnormal somatic layer of lateral plate mesoderm MPheno.ontology MP:0012180 abnormal somatic mesoderm morphology MP:0012180 any structural abnormality of the outer layer of lateral plate mesoderm, located under (ventrally) the ectoderm, which forms the future body wall https://orcid.org/0000-0002-6490-7723 increase in the average number of somites formed relative to littermates or other controls csmith 2013-10-31T13:09:06Z additional somite row(s) extra somite row(s) supernumerary somites MPheno.ontology MP:0012181 increased somite number MP:0012181 increase in the average number of somites formed relative to littermates or other controls https://orcid.org/0000-0002-6490-7723 any structural anomaly of the unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form csmith 2013-10-31T13:13:54Z abnormal PSM morphology abnormal presomitic paraxial mesoderm morphology abnormal segmental plate morphology abnormal somitogenic mesoderm morphology abnormal unsegmented paraxial mesoderm MPheno.ontology MP:0012182 abnormal presomitic mesoderm morphology MP:0012182 any structural anomaly of the unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form https://orcid.org/0000-0002-6490-7723 reduced size or deficiency of the mesoderm lying at either side of the midline embryonic notochord that, on segmentation, forms the paired somites csmith 2013-10-31T13:17:03Z decreased paraxial mesenchyme size decreased somitic mesoderm size MPheno.ontology MP:0012183 decreased paraxial mesoderm size MP:0012183 reduced size or deficiency of the mesoderm lying at either side of the midline embryonic notochord that, on segmentation, forms the paired somites https://orcid.org/0000-0002-6490-7723 absence or loss of the mesoderm normally found at either side of the midline embryonic notochord that, on segmentation, forms the paired somites. csmith 2013-10-31T13:17:03Z absent paraxial mesenchyme morphology absent somitic mesoderm MPheno.ontology MP:0012184 absent paraxial mesoderm MP:0012184 absence or loss of the mesoderm normally found at either side of the midline embryonic notochord that, on segmentation, forms the paired somites. https://orcid.org/0000-0002-6490-7723 any structural anomaly of cells that will develop into muscle cells csmith 2013-10-31T13:50:52Z abnormal muscle progenitor cell morphology MPheno.ontology MP:0012185 abnormal muscle precursor cell morphology MP:0012185 any structural anomaly of cells that will develop into muscle cells https://orcid.org/0000-0003-0431-8641 anomaly in the function of cells that will develop into muscle cells csmith 2013-10-31T13:51:34Z MPheno.ontology abnormal muscle progenitor cell physiology MP:0012186 abnormal muscle precursor cell physiology MP:0012186 anomaly in the function of cells that will develop into muscle cells https://orcid.org/0000-0003-0431-8641 any structural anomaly of the part of the coelom in the embryo between the somatopleuric and splanchnopleuric mesoderm; the principal body cavities of the trunk (thoracic, abdominal, and pelvic) arise from this embryonic part of the coelom csmith 2013-10-31T14:13:33Z abnormal intraembryonic celom morphology MPheno.ontology MP:0012187 abnormal intraembryonic coelom morphology MP:0012187 any structural anomaly of the part of the coelom in the embryo between the somatopleuric and splanchnopleuric mesoderm; the principal body cavities of the trunk (thoracic, abdominal, and pelvic) arise from this embryonic part of the coelom https://orcid.org/0000-0002-6490-7723 increase in the number of regulatory T cells undergoing programmed cell death csmith 2013-10-31T14:21:26Z MPheno.ontology MP:0012188 increased regulatory T cell apoptosis MP:0012188 increase in the number of regulatory T cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 decrease in the number of regulatory T cells undergoing programmed cell death csmith 2013-10-31T14:22:14Z MPheno.ontology MP:0012189 decreased regulatory T cell apoptosis MP:0012189 decrease in the number of regulatory T cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 increase in the number of cytotoxic T cells undergoing programmed cell death csmith 2013-10-31T14:25:11Z MPheno.ontology MP:0012190 increased cytotoxic T cell apoptosis MP:0012190 increase in the number of cytotoxic T cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 decrease in the number of cytotoxic T cells undergoing programmed cell death csmith 2013-10-31T14:25:11Z reduced cytotoxic T cell apoptosis MPheno.ontology MP:0012191 decreased cytotoxic T cell apoptosis MP:0012191 decrease in the number of cytotoxic T cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 anomaly in the movement of keratinocyes or their precursors to the appropriate location in the body csmith 2013-10-31T14:29:41Z MPheno.ontology MP:0012192 abnormal keratinocyte migration MP:0012192 anomaly in the movement of keratinocyes or their precursors to the appropriate location in the body https://orcid.org/0000-0003-3691-0324 increased or faster movement of keratinocyes or their precursors to the appropriate location in the body csmith 2013-10-31T14:30:01Z MPheno.ontology MP:0012193 increased keratinocyte migration MP:0012193 increased or faster movement of keratinocyes or their precursors to the appropriate location in the body https://orcid.org/0000-0003-3691-0324 reduced or slower movement of keratinocyes or their precursors to the appropriate location in the body csmith 2013-10-31T14:30:10Z MPheno.ontology MP:0012194 decreased keratinocyte migration MP:0012194 reduced or slower movement of keratinocyes or their precursors to the appropriate location in the body https://orcid.org/0000-0003-3691-0324 abnormal or arrest of differentiation of the transient and highly migratory group of cells that delaminate in early embryonic development from the dorsal neural tube and give rise to a variety of differentiated cell types csmith 2013-10-31T14:38:34Z MPheno.ontology MP:0012195 impaired neural crest cell differentiation MP:0012195 abnormal or arrest of differentiation of the transient and highly migratory group of cells that delaminate in early embryonic development from the dorsal neural tube and give rise to a variety of differentiated cell types https://orcid.org/0000-0002-6490-7723 anomaly in the process in which a relatively unspecialized cell acquires specialized features of a myofibroblast, a cell that has characteristics of both a fibroblast cell and a smooth muscle cell and is reportedly capable of secreting IL-1beta, IL-6, and TNF-alpha csmith 2013-10-31T14:41:46Z abnormal MFB differentiation MPheno.ontology MP:0012196 abnormal myofibroblast differentiation MP:0012196 anomaly in the process in which a relatively unspecialized cell acquires specialized features of a myofibroblast, a cell that has characteristics of both a fibroblast cell and a smooth muscle cell and is reportedly capable of secreting IL-1beta, IL-6, and TNF-alpha CL:0000186 reduced ability or inability to produce myofibroblasts, cells that have characteristics of both a fibroblast cell and a smooth muscle cell and are reportedly capable of secreting IL-1beta, IL-6, and TNF-alpha csmith 2013-10-31T14:42:09Z impaired MFB differentiation MPheno.ontology MP:0012197 impaired myofibroblast differentiation MP:0012197 reduced ability or inability to produce myofibroblasts, cells that have characteristics of both a fibroblast cell and a smooth muscle cell and are reportedly capable of secreting IL-1beta, IL-6, and TNF-alpha CL:0000186 absence of a hinge joint(s) that connects one phalanx to another along a proximodistal axis csmith 2013-10-31T14:43:37Z absent interphalangeal articulations MPheno.ontology MP:0012198 absent interphalangeal joint MP:0012198 absence of a hinge joint(s) that connects one phalanx to another along a proximodistal axis UBERON:0006658 any structural anomaly of a hinge joint that connects one phalanx to another along a proximodistal axis csmith 2013-10-31T14:43:37Z abnormal interphalangeal articulation morphology MPheno.ontology MP:0012199 abnormal interphalangeal joint morphology MP:0012199 any structural anomaly of a hinge joint that connects one phalanx to another along a proximodistal axis UBERON:0006658 greater expansion rate of a endothelial cell population by cell division csmith 2013-10-31T14:45:14Z MPheno.ontology MP:0012200 increased endothelial cell proliferation MP:0012200 greater expansion rate of a endothelial cell population by cell division https://orcid.org/0000-0003-3691-0324 reduction in the expansion rate of a endothelial cell population by cell division csmith 2013-10-31T14:45:14Z MPheno.ontology MP:0012201 decreased endothelial cell proliferation MP:0012201 reduction in the expansion rate of a endothelial cell population by cell division https://orcid.org/0000-0003-3691-0324 anomaly in the ability of an endothelial cell population to undergo expansion by cell division csmith 2013-10-31T14:45:14Z MPheno.ontology MP:0012202 abnormal endothelial cell proliferation MP:0012202 anomaly in the ability of an endothelial cell population to undergo expansion by cell division https://orcid.org/0000-0003-3691-0324 any structural anomaly of an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors csmith 2013-10-31T14:55:58Z abnormal neural stem cell morphology MPheno.ontology MP:0012203 abnormal neuronal stem cell morphology MP:0012203 any structural anomaly of an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors CL:0000047 any functional anomaly of an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors csmith 2013-10-31T14:57:22Z abnormal neural stem cell physiology MPheno.ontology MP:0012204 abnormal neuronal stem cell physiology MP:0012204 any functional anomaly of an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors CL:0000047 any anomaly in the process by which stem cells divide and proliferate to make more stem cells, perpetuating the stem cell pool; self-renewal is division with maintenance of the undifferentiated state csmith 2013-10-31T14:58:23Z abnormal neural stem cell proliferation abnormal neural stem cell self-renewal abnormal neuronal stem cell proliferation MPheno.ontology MP:0012205 abnormal neuronal stem cell self-renewal MP:0012205 any anomaly in the process by which stem cells divide and proliferate to make more stem cells, perpetuating the stem cell pool; self-renewal is division with maintenance of the undifferentiated state PMID:19575646 an increased rate in the process by which stem cells divide and proliferate to make more stem cells, perpetuating an increase in the stem cell pool; self-renewal is division with maintenance of the undifferentiated state csmith 2013-10-31T14:58:23Z increased neural stem cell proliferation increased neural stem cell self-renewal increased neuronal stem cell proliferation MPheno.ontology MP:0012206 increased neuronal stem cell self-renewal MP:0012206 an increased rate in the process by which stem cells divide and proliferate to make more stem cells, perpetuating an increase in the stem cell pool; self-renewal is division with maintenance of the undifferentiated state PMID:19575646 a decreased rate in the process by which stem cells divide and proliferate to make more stem cells, perpetuating an decrease in the stem cell pool; self-renewal is division with maintenance of the undifferentiated state csmith 2013-10-31T14:58:23Z decreased neural stem cell proliferation decreased neural stem cell self-renewal decreased neuronal stem cell proliferation MPheno.ontology MP:0012207 decreased neuronal stem cell self-renewal MP:0012207 a decreased rate in the process by which stem cells divide and proliferate to make more stem cells, perpetuating an decrease in the stem cell pool; self-renewal is division with maintenance of the undifferentiated state PMID:19575646 altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate csmith 2013-11-10T20:12:53Z abnormal 6-hydroxypurine phosphoribosyltransferase level abnormal 6-mercaptopurine phosphoribosyltransferase level abnormal GMP pyrophosphorylase level abnormal GPRT level abnormal HGPRT level abnormal HGPRTase level abnormal HPRT level abnormal IMP pyrophosphorylase level abnormal IMP-GMP pyrophosphorylase level abnormal guanine phosphoribosyltransferase level abnormal guanine-hypoxanthine phosphoribosyltransferase level abnormal guanosine 5'-phosphate pyrophosphorylase level abnormal guanosine phosphoribosyltransferase level abnormal guanylate pyrophosphorylase level abnormal guanylic pyrophosphorylase level abnormal inosinate pyrophosphorylase level abnormal inosine 5'-phosphate pyrophosphorylase level abnormal inosinic acid pyrophosphorylase level abnormal inosinic pyrophosphorylase level abnormal purine-6-thiol phosphoribosyltransferase level abnormal transphosphoribosidase level MPheno.ontology MP:0012208 abnormal hypoxanthine-guanine phosphoribosyltransferase level MP:0012208 altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate ISBN:0-683-40008-8 reduced level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate csmith 2013-11-10T20:12:53Z decreased 6-hydroxypurine phosphoribosyltransferase level decreased 6-mercaptopurine phosphoribosyltransferase level decreased GMP pyrophosphorylase level decreased GPRT level decreased HGPRT level decreased HGPRTase level decreased HPRT level decreased IMP pyrophosphorylase level decreased IMP-GMP pyrophosphorylase level decreased guanine phosphoribosyltransferase level decreased guanine-hypoxanthine phosphoribosyltransferase level decreased guanosine 5'-phosphate pyrophosphorylase level decreased guanosine phosphoribosyltransferase level decreased guanylate pyrophosphorylase level decreased guanylic pyrophosphorylase level decreased inosinate pyrophosphorylase level decreased inosine 5'-phosphate pyrophosphorylase level decreased inosinic acid pyrophosphorylase level decreased inosinic pyrophosphorylase level decreased purine-6-thiol phosphoribosyltransferase level decreased transphosphoribosidase level reduced HGPRT level reduced hypoxanthine-guanine phosphoribosyltransferase level MPheno.ontology MP:0012209 decreased hypoxanthine-guanine phosphoribosyltransferase level MP:0012209 reduced level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate ISBN:0-683-40008-8 greater level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate csmith 2013-11-10T20:12:53Z increased 6-hydroxypurine phosphoribosyltransferase level increased 6-mercaptopurine phosphoribosyltransferase level increased GMP pyrophosphorylase level increased GPRT level increased HGPRT level increased HGPRTase level increased HPRT level increased IMP pyrophosphorylase level increased IMP-GMP pyrophosphorylase level increased guanine phosphoribosyltransferase level increased guanine-hypoxanthine phosphoribosyltransferase level increased guanosine 5'-phosphate pyrophosphorylase level increased guanosine phosphoribosyltransferase level increased guanylate pyrophosphorylase level increased guanylic pyrophosphorylase level increased inosinate pyrophosphorylase level increased inosine 5'-phosphate pyrophosphorylase level increased inosinic acid pyrophosphorylase level increased inosinic pyrophosphorylase level increased purine-6-thiol phosphoribosyltransferase level increased transphosphoribosidase level MPheno.ontology MP:0012210 increased hypoxanthine-guanine phosphoribosyltransferase level MP:0012210 greater level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate ISBN:0-683-40008-8 reduced level in the thalamus of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate csmith 2013-11-10T20:12:53Z decreased thalamus 6-hydroxypurine phosphoribosyltransferase level decreased thalamus 6-mercaptopurine phosphoribosyltransferase level decreased thalamus GMP pyrophosphorylase level decreased thalamus GPRT level decreased thalamus HGPRT level decreased thalamus HGPRTase level decreased thalamus HPRT level decreased thalamus IMP pyrophosphorylase level decreased thalamus IMP-GMP pyrophosphorylase level decreased thalamus guanine phosphoribosyltransferase level decreased thalamus guanine-hypoxanthine phosphoribosyltransferase level decreased thalamus guanosine 5'-phosphate pyrophosphorylase level decreased thalamus guanosine phosphoribosyltransferase level decreased thalamus guanylate pyrophosphorylase level decreased thalamus guanylic pyrophosphorylase level decreased thalamus inosinate pyrophosphorylase level decreased thalamus inosine 5'-phosphate pyrophosphorylase level decreased thalamus inosinic acid pyrophosphorylase level decreased thalamus inosinic pyrophosphorylase level decreased thalamus purine-6-thiol phosphoribosyltransferase level decreased thalamus transphosphoribosidase level MPheno.ontology MP:0012211 decreased thalamus hypoxanthine-guanine phosphoribosyltransferase level MP:0012211 reduced level in the thalamus of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate ISBN:0-683-40008-8 greater level in the thalmus of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate csmith 2013-11-10T20:12:53Z increased thalamus 6-hydroxypurine phosphoribosyltransferase level increased thalamus 6-mercaptopurine phosphoribosyltransferase level increased thalamus GMP pyrophosphorylase level increased thalamus GPRT level increased thalamus HGPRT level increased thalamus HGPRTase level increased thalamus HPRT level increased thalamus IMP pyrophosphorylase level increased thalamus IMP-GMP pyrophosphorylase level increased thalamus guanine phosphoribosyltransferase level increased thalamus guanine-hypoxanthine phosphoribosyltransferase level increased thalamus guanosine 5'-phosphate pyrophosphorylase level increased thalamus guanosine phosphoribosyltransferase level increased thalamus guanylate pyrophosphorylase level increased thalamus guanylic pyrophosphorylase level increased thalamus inosinate pyrophosphorylase level increased thalamus inosine 5'-phosphate pyrophosphorylase level increased thalamus inosinic acid pyrophosphorylase level increased thalamus inosinic pyrophosphorylase level increased thalamus purine-6-thiol phosphoribosyltransferase level increased thalamus transphosphoribosidase level MPheno.ontology MP:0012212 increased thalamus hypoxanthine-guanine phosphoribosyltransferase level MP:0012212 greater level in the thalmus of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate ISBN:0-683-40008-8 reduced level in the hypothalamus of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate csmith 2013-11-10T20:12:53Z decreased hypothalamus 6-hydroxypurine phosphoribosyltransferase level decreased hypothalamus 6-mercaptopurine phosphoribosyltransferase level decreased hypothalamus GMP pyrophosphorylase level decreased hypothalamus GPRT level decreased hypothalamus HGPRT level decreased hypothalamus HGPRTase level decreased hypothalamus HPRT level decreased hypothalamus IMP pyrophosphorylase level decreased hypothalamus IMP-GMP pyrophosphorylase level decreased hypothalamus guanine phosphoribosyltransferase level decreased hypothalamus guanine-hypoxanthine phosphoribosyltransferase level decreased hypothalamus guanosine 5'-phosphate pyrophosphorylase level decreased hypothalamus guanosine phosphoribosyltransferase level decreased hypothalamus guanylate pyrophosphorylase level decreased hypothalamus guanylic pyrophosphorylase level decreased hypothalamus inosinate pyrophosphorylase level decreased hypothalamus inosine 5'-phosphate pyrophosphorylase level decreased hypothalamus inosinic acid pyrophosphorylase level decreased hypothalamus inosinic pyrophosphorylase level decreased hypothalamus purine-6-thiol phosphoribosyltransferase level decreased hypothalamus transphosphoribosidase level reduced hypothalamus HGPRT level reduced hypothalamus hypoxanthine-guanine phosphoribosyltransferase level MPheno.ontology MP:0012213 decreased hypothalamus hypoxanthine-guanine phosphoribosyltransferase level MP:0012213 reduced level in the hypothalamus of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate ISBN:0-683-40008-8 greater level in the hypothalmus of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate csmith 2013-11-10T20:12:53Z increased IMP pyrophosphorylase level in hypothalamus increased IMP-GMP pyrophosphorylase level in hypothalamus increased hypothalamus 6-hydroxypurine phosphoribosyltransferase level increased hypothalamus 6-mercaptopurine phosphoribosyltransferase level increased hypothalamus GMP pyrophosphorylase level increased hypothalamus GPRT level increased hypothalamus HGPRT level increased hypothalamus HGPRTase level increased hypothalamus HPRT level increased hypothalamus guanine phosphoribosyltransferase level increased hypothalamus guanine-hypoxanthine phosphoribosyltransferase level increased hypothalamus guanosine 5'-phosphate pyrophosphorylase level increased hypothalamus guanosine phosphoribosyltransferase level increased hypothalamus guanylate pyrophosphorylase level increased hypothalamus guanylic pyrophosphorylase level increased hypoxanthine-guanine phosphoribosyltransferase level in hypothalamus increased inosinate pyrophosphorylase level in hypothalamus increased inosine 5'-phosphate pyrophosphorylase level in hypothalamus increased inosinic acid pyrophosphorylase level in hypothalamus increased inosinic pyrophosphorylase level in hypothalamus increased purine-6-thiol phosphoribosyltransferase level in hypothalamus increased transphosphoribosidase level in hypothalamus MPheno.ontology MP:0012214 increased hypothalamus hypoxanthine-guanine phosphoribosyltransferase level MP:0012214 greater level in the hypothalmus of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate ISBN:0-683-40008-8 anomaly in the amount of the glycerophospholipid class of lipids that contain a vinyl ether moiety at the sn-1-position of the glycerol backbone and are and enriched in polyunsaturated fatty acids at the sn-2 position of the glycerol backbone csmith 2013-11-11T10:06:04Z MPheno.ontology MP:0012215 abnormal plasmalogen level MP:0012215 anomaly in the amount of the glycerophospholipid class of lipids that contain a vinyl ether moiety at the sn-1-position of the glycerol backbone and are and enriched in polyunsaturated fatty acids at the sn-2 position of the glycerol backbone PMID:19519379 PMID:22627108 reduction in the amount of the glycerophospholipid class of lipids that contain a vinyl ether moiety at the sn-1-position of the glycerol backbone and are and enriched in polyunsaturated fatty acids at the sn-2 position of the glycerol backbone csmith 2013-11-11T10:06:04Z reduced plasmalogen level MPheno.ontology MP:0012216 decreased plasmalogen level MP:0012216 reduction in the amount of the glycerophospholipid class of lipids that contain a vinyl ether moiety at the sn-1-position of the glycerol backbone and are and enriched in polyunsaturated fatty acids at the sn-2 position of the glycerol backbone PMID:19519379 PMID:22627108 greater amount of the glycerophospholipid class of lipids that contain a vinyl ether moiety at the sn-1-position of the glycerol backbone and are and enriched in polyunsaturated fatty acids at the sn-2 position of the glycerol backbone csmith 2013-11-11T10:06:04Z MPheno.ontology MP:0012217 increased plasmalogen level MP:0012217 greater amount of the glycerophospholipid class of lipids that contain a vinyl ether moiety at the sn-1-position of the glycerol backbone and are and enriched in polyunsaturated fatty acids at the sn-2 position of the glycerol backbone PMID:19519379 PMID:22627108 reduction in the amount in the brain of the glycerophospholipid class of lipids that contain a vinyl ether moiety at the sn-1-position of the glycerol backbone and are and enriched in polyunsaturated fatty acids at the sn-2 position of the glycerol backbone csmith 2013-11-11T10:06:04Z reduced brain plasmalogen level MPheno.ontology MP:0012218 decreased brain plasmalogen level MP:0012218 reduction in the amount in the brain of the glycerophospholipid class of lipids that contain a vinyl ether moiety at the sn-1-position of the glycerol backbone and are and enriched in polyunsaturated fatty acids at the sn-2 position of the glycerol backbone PMID:19519379 PMID:22627108 greater amount in the brain of the glycerophospholipid class of lipids that contain a vinyl ether moiety at the sn-1-position of the glycerol backbone and are and enriched in polyunsaturated fatty acids at the sn-2 position of the glycerol backbone csmith 2013-11-11T10:06:04Z MPheno.ontology MP:0012219 increased brain plasmalogen level MP:0012219 greater amount in the brain of the glycerophospholipid class of lipids that contain a vinyl ether moiety at the sn-1-position of the glycerol backbone and are and enriched in polyunsaturated fatty acids at the sn-2 position of the glycerol backbone PMID:19519379 PMID:22627108 anomaly in the amount of lipids in which one or more of the carbon atoms on glycerol is bonded to an alkyl chain via an ether linkage, as opposed to the usual ester linkage csmith 2013-11-11T10:36:31Z abnormal ether glycerolipid level abnormal ether phospholipid level MPheno.ontology MP:0012220 abnormal ether lipid level MP:0012220 anomaly in the amount of lipids in which one or more of the carbon atoms on glycerol is bonded to an alkyl chain via an ether linkage, as opposed to the usual ester linkage CHEBI:64611 PMID:22771767 anomaly in the blood level of an inactive plasma serine protease precursor produced in the liver in the presence of vitamin K which is proteolytically cleaved into active thrombin by the action of various components (as thromboplastin) of the coagulation cascade csmith 2013-11-11T11:02:44Z abnormal Cf2 level abnormal cogulation factor II level abnormal prothrombin level MPheno.ontology MP:0012221 abnormal circulating prothrombin level MP:0012221 anomaly in the blood level of an inactive plasma serine protease precursor produced in the liver in the presence of vitamin K which is proteolytically cleaved into active thrombin by the action of various components (as thromboplastin) of the coagulation cascade https://orcid.org/0000-0003-3691-0324 reduction in the blood level of an inactive plasma serine protease precursor produced in the liver in the presence of vitamin K which is proteolytically cleaved into active thrombin by the action of various components (as thromboplastin) of the coagulation cascade csmith 2013-11-11T11:03:18Z decreased Cf2 level decreased cogulation factor II level decreased prothrombin level reduced Cf2 level reduced cogulation factor II level reduced prothrombin level MPheno.ontology MP:0012222 decreased circulating prothrombin level MP:0012222 reduction in the blood level of an inactive plasma serine protease precursor produced in the liver in the presence of vitamin K which is proteolytically cleaved into active thrombin by the action of various components (as thromboplastin) of the coagulation cascade https://orcid.org/0000-0003-3691-0324 greater blood level of an inactive plasma serine protease precursor produced in the liver in the presence of vitamin K which is proteolytically cleaved into active thrombin by the action of various components (as thromboplastin) of the coagulation cascade csmith 2013-11-11T11:03:18Z increased Cf2 level increased cogulation factor II level increased prothrombin level MPheno.ontology MP:0012223 increased circulating prothrombin level MP:0012223 greater blood level of an inactive plasma serine protease precursor produced in the liver in the presence of vitamin K which is proteolytically cleaved into active thrombin by the action of various components (as thromboplastin) of the coagulation cascade https://orcid.org/0000-0003-3691-0324 anomaly in the level of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated csmith 2013-11-11T12:29:35Z abnormal steroid alcohol level MPheno.ontology MP:0012224 abnormal sterol level MP:0012224 anomaly in the level of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated https://orcid.org/0000-0003-3691-0324 reduction in the level of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated csmith 2013-11-11T12:35:54Z decreased steroid alcohol level reduced steroid alcohol level reduced sterol level MPheno.ontology MP:0012225 decreased sterol level MP:0012225 reduction in the level of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated https://orcid.org/0000-0003-3691-0324 greater level of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated csmith 2013-11-11T12:35:54Z increased steroid alcohol level MPheno.ontology MP:0012226 increased sterol level MP:0012226 greater level of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated https://orcid.org/0000-0003-3691-0324 reduced level in the brain of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated csmith 2013-11-11T12:35:54Z decreased brain steroid alcohol level reduced brain steroid alcohol level reduced brain sterol level MPheno.ontology MP:0012227 decreased brain sterol level MP:0012227 reduced level in the brain of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated https://orcid.org/0000-0003-3691-0324 greater level in the brain of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated csmith 2013-11-11T12:35:54Z increased brain steroid alcohol level MPheno.ontology MP:0012228 increased brain sterol level MP:0012228 greater level in the brain of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated https://orcid.org/0000-0003-3691-0324 anomaly in the concentration or amount of the sulfolipids that contribute to myelin function and stability csmith 2013-11-11T13:58:55Z abnormal sulfatide level MPheno.ontology MP:0012229 abnormal sulfoglycosphingolipid level MP:0012229 anomaly in the concentration or amount of the sulfolipids that contribute to myelin function and stability http://en.wikipedia.org/wiki/sulfatide anomaly in the amount of any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid) csmith 2013-11-11T14:58:50Z MPheno.ontology MP:0012230 abnormal sphingolipid level MP:0012230 anomaly in the amount of any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid) GO:0030148 any anomaly in the concentration of the molecule composed of a glycosphingolipid (ceramide and oligosaccharide) with one or more sialic acids linked on the sugar chain csmith 2013-11-11T15:00:30Z MPheno.ontology MP:0012231 abnormal ganglioside level MP:0012231 any anomaly in the concentration of the molecule composed of a glycosphingolipid (ceramide and oligosaccharide) with one or more sialic acids linked on the sugar chain CHEBI:28892 any anomaly in the concentration of the subclass of sphingoid base derivatives with an amide-linked fatty acid, where the fatty acids are typically saturated or monounsaturated with chain lengths from 14 to 26 carbon atoms csmith 2013-11-11T15:00:49Z MPheno.ontology MP:0012232 abnormal ceramide level MP:0012232 any anomaly in the concentration of the subclass of sphingoid base derivatives with an amide-linked fatty acid, where the fatty acids are typically saturated or monounsaturated with chain lengths from 14 to 26 carbon atoms CHEBI:17761 https://orcid.org/0000-0003-4606-0597 anomaly in the amount of any of a subclass of glycosphingolipids that contain large polar heads composed of several sugar units and have one or more of their terminal sugar units bound to a negatively charged molecule at pH 7; negative charges can be provided by sialic acids (gangliosides), uronic acids (uronoglycosphingolipids), sulfates (sulfoglycosphingolipids), phosphates (phosphoglycosphingolipids), and phosphonates (phosphonoglycosphingolipids) csmith 2013-11-11T15:07:07Z MPheno.ontology MP:0012233 abnormal acidic glycosphingolipid level MP:0012233 anomaly in the amount of any of a subclass of glycosphingolipids that contain large polar heads composed of several sugar units and have one or more of their terminal sugar units bound to a negatively charged molecule at pH 7; negative charges can be provided by sialic acids (gangliosides), uronic acids (uronoglycosphingolipids), sulfates (sulfoglycosphingolipids), phosphates (phosphoglycosphingolipids), and phosphonates (phosphonoglycosphingolipids) ISBN:9780444527462 https://connects.catalyst.harvard.edu/Profiles/display/Concept/Acidic%20Glycosphingolipids any structural anomaly of the out-pocket of thickened ventral foregut epithelium adjacent to the developing heart that constitutes the first morphological sign of the embryonic liver csmith 2013-11-12T09:45:29Z abnormal diverticulum hepaticum morphology abnormal liver diverticulum morphology MPheno.ontology MP:0012234 In mice, the hepatic diverticulum forms by E9 and expands into an obvious liver bud by E10. The anterior portion of the hepatic diverticulum gives rise to the liver and intrahepatic biliary tree, whereas the posterior portion forms the gall bladder and the extrahepatic bile ducts. abnormal hepatic diverticulum morphology MP:0012234 any structural anomaly of the out-pocket of thickened ventral foregut epithelium adjacent to the developing heart that constitutes the first morphological sign of the embryonic liver https://orcid.org/0000-0002-6490-7723 any structural anomaly of the liver primordium formed as hepatoblasts delaminate from the anterior portion of the hepatic diverticulum and invade the adjacent septum transversum mesenchyme csmith 2013-11-12T09:45:29Z abnormal embryological hepatic plate abnormal hepatic bud morphology abnormal liver primordium morphology MPheno.ontology MP:0012235 In the mouse, between E9.5 and E15, the liver bud undergoes significant growth and, following invasion of hematopoietic cells, becomes the primary site of fetal hematopoiesis. abnormal liver bud morphology MP:0012235 any structural anomaly of the liver primordium formed as hepatoblasts delaminate from the anterior portion of the hepatic diverticulum and invade the adjacent septum transversum mesenchyme https://orcid.org/0000-0002-6490-7723 any structural anomaly of the epithelial cells of the bile duct that have primary cilia extending from their apical membrane into the ductal lumen; cholangiocytes are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts csmith 2013-11-12T10:14:03Z abnormal epithelial cell of bile duct morphology MPheno.ontology MP:0012236 abnormal cholangiocyte morphology MP:0012236 any structural anomaly of the epithelial cells of the bile duct that have primary cilia extending from their apical membrane into the ductal lumen; cholangiocytes are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts PMID:22961800 increase in the number of epithelial cells of the bile duct undergoing programmed cell death csmith 2013-11-12T11:49:20Z increased epithelial cell of bile duct apoptosis MPheno.ontology MP:0012237 increased cholangiocyte apoptosis MP:0012237 increase in the number of epithelial cells of the bile duct undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 any structural anomaly of the primary cilia found on the epithelial cells of the bile duct and extending from their apical membrane into the ductal lumen csmith 2013-11-12T11:50:37Z abnormal cholangiocyte cilia MPheno.ontology MP:0012238 abnormal cholangiocyte primary cilium morphology MP:0012238 any structural anomaly of the primary cilia found on the epithelial cells of the bile duct and extending from their apical membrane into the ductal lumen PMID:18024594 https://orcid.org/0000-0002-6490-7723 any functional anomaly of the primary cilia found on the epithelial cells of the bile duct and extending from their apical membrane into the ductal lumen; cholangiocyte cilia respond to mechanical stimuli (i.e. luminal fluid flow) by alterations in intracellular Ca2+ and cAMP and are thought to act as osmosensors that play an important role in ductal bile formation by detecting changes in luminal tonicity and inducing bicarbonate secretion csmith 2013-11-12T11:51:33Z MPheno.ontology MP:0012239 abnormal cholangiocyte primary cilium physiology MP:0012239 any functional anomaly of the primary cilia found on the epithelial cells of the bile duct and extending from their apical membrane into the ductal lumen; cholangiocyte cilia respond to mechanical stimuli (i.e. luminal fluid flow) by alterations in intracellular Ca2+ and cAMP and are thought to act as osmosensors that play an important role in ductal bile formation by detecting changes in luminal tonicity and inducing bicarbonate secretion PMID:18024594 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the bi-potent cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into hepatocytes and cholangiocytes csmith 2013-11-12T12:58:02Z MPheno.ontology MP:0012240 abnormal hepatoblast morphology MP:0012240 any structural anomaly of the bi-potent cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into hepatocytes and cholangiocytes https://orcid.org/0000-0002-6490-7723 any functional anomaly of the bi-potent cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into hepatocytes and cholangiocytes csmith 2013-11-12T12:59:57Z MPheno.ontology MP:0012241 abnormal hepatoblast physiology MP:0012241 any functional anomaly of the bi-potent cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into hepatocytes and cholangiocytes https://orcid.org/0000-0002-6490-7723 developmental anomaly or inability of hepatoblasts to differentiate into hepatocytes and cholangiocytes csmith 2013-11-12T13:01:20Z MPheno.ontology MP:0012242 abnormal hepatoblast differentiation MP:0012242 developmental anomaly or inability of hepatoblasts to differentiate into hepatocytes and cholangiocytes https://orcid.org/0000-0002-6490-7723 reduced number of the bi-potent cells that retain the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into hepatocytes and cholangiocytes csmith 2013-11-12T13:01:52Z MPheno.ontology MP:0012243 decreased hepatoblast number MP:0012243 reduced number of the bi-potent cells that retain the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into hepatocytes and cholangiocytes https://orcid.org/0000-0002-6490-7723 increase in the number of hepatoblasts undergoing programmed cell death csmith 2013-11-12T13:02:15Z MPheno.ontology MP:0012244 increased hepatoblast apoptosis MP:0012244 increase in the number of hepatoblasts undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 atypical migration of hepatoblasts across the basement membrane of the liver bud and/or invasion of the neighboring septum transversum mesenchyme csmith 2013-11-12T13:02:40Z MPheno.ontology MP:0012245 abnormal hepatoblast migration MP:0012245 atypical migration of hepatoblasts across the basement membrane of the liver bud and/or invasion of the neighboring septum transversum mesenchyme https://orcid.org/0000-0002-6490-7723 any structural anomaly of the three-dimensional arrangement formed by plates of hepatocytes, usually one cell thick, that radiates from the center of the liver lobule; hepatic laminae are highly branched, irregular structures bordered by endothelial lined vascular spaces called hepatic sinusoids csmith 2013-11-12T13:06:35Z abnormal hepatic lamina morphology abnormal hepatic laminae abnormal lamina hepatica morphology abnormal liver cell plate morphology MPheno.ontology MP:0012246 abnormal hepatic cord morphology MP:0012246 any structural anomaly of the three-dimensional arrangement formed by plates of hepatocytes, usually one cell thick, that radiates from the center of the liver lobule; hepatic laminae are highly branched, irregular structures bordered by endothelial lined vascular spaces called hepatic sinusoids https://orcid.org/0000-0002-6490-7723 absence of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure csmith 2013-11-12T15:38:48Z absent cornea of camera-type eye absent tunica cornea cornea agenesis cornea aplasia corneal agenesis corneal aplasia MPheno.ontology MP:0012247 absent cornea MP:0012247 absence of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure https://orcid.org/0000-0002-6490-7723 absence of the mesoderm that is derived from the somite that is fated to become the dermis csmith 2013-11-12T15:45:11Z absent cutis plate absent dermatomal mesenchyme MPheno.ontology MP:0012248 absent dermatome MP:0012248 absence of the mesoderm that is derived from the somite that is fated to become the dermis https://orcid.org/0000-0002-6490-7723 absence of the mesoderm that is derived from the somite that is fated to become the musculature csmith 2013-11-12T15:46:39Z absent muscle plate absent myomere(s) MPheno.ontology MP:0012249 absent myotome MP:0012249 absence of the mesoderm that is derived from the somite that is fated to become the musculature https://orcid.org/0000-0002-6490-7723 failure to form all of the membranous folds of the heart that prevent reflux of fluid csmith 2013-11-12T15:54:11Z absent cardiac valves cardiac valve agenesis cardiac valve aplasia heart valve agenesis heart valve aplasia MPheno.ontology MP:0012250 absent heart valves MP:0012250 failure to form all of the membranous folds of the heart that prevent reflux of fluid https://orcid.org/0000-0002-6490-7723 malformation or incomplete differentiation of the thin musculomembranous barrier separating the abdominal and thoracic cavities and functioning in respiration csmith 2013-11-13T12:47:25Z MPheno.ontology MP:0012251 abnormal diaphragm development MP:0012251 malformation or incomplete differentiation of the thin musculomembranous barrier separating the abdominal and thoracic cavities and functioning in respiration https://orcid.org/0000-0002-6490-7723 any structural anomaly of the thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions; the cranial part of the septum transversum gives rise to the central tendon of the diaphragm and is the origin of the myoblasts that invade the pleuroperitoneal folds resulting in the formation of the muscular diaphragm, and the caudal part of the septum transversum is invaded by the hepatic diverticulum which divides within it to form the liver and thus gives rise to the ventral mesentery of the foregut csmith 2013-11-13T12:52:37Z MPheno.ontology MP:0012252 abnormal septum transversum morphology MP:0012252 any structural anomaly of the thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions; the cranial part of the septum transversum gives rise to the central tendon of the diaphragm and is the origin of the myoblasts that invade the pleuroperitoneal folds resulting in the formation of the muscular diaphragm, and the caudal part of the septum transversum is invaded by the hepatic diverticulum which divides within it to form the liver and thus gives rise to the ventral mesentery of the foregut VHOG:0000019 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites csmith 2013-11-13T12:57:41Z abnormal intersegmental vessel morphology abnormal intersomitic blood vessel morphology abnormal intersomitic vasculature abnormal segmental vessel morphology MPheno.ontology MP:0012253 abnormal intersomitic vessel morphology MP:0012253 any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites https://orcid.org/0000-0002-6490-7723 absence of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites csmith 2013-11-13T13:02:49Z absent intersegmental vessels absent intersomitic blood vessels absent intersomitic vasculature absent segmental vessels MPheno.ontology MP:0012254 absent intersomitic vessels MP:0012254 absence of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites https://orcid.org/0000-0002-6490-7723 any structural anomaly of the vein that sprouts from the posterior cardinal vein, growing dorsally between the somites, and then joining, and draining the dorsal longitudinal anastomosing vessel csmith 2013-11-13T13:06:24Z abnormal intersegmental vein morphology MPheno.ontology MP:0012255 abnormal intersomitic vein morphology MP:0012255 any structural anomaly of the vein that sprouts from the posterior cardinal vein, growing dorsally between the somites, and then joining, and draining the dorsal longitudinal anastomosing vessel https://orcid.org/0000-0002-6490-7723 any structural anomaly of the vertical groove found on the median line of the upper lip csmith 2013-11-13T13:52:37Z MPheno.ontology MP:0012256 abnormal philtrum morphology MP:0012256 any structural anomaly of the vertical groove found on the median line of the upper lip https://orcid.org/0000-0002-6490-7723 absence of the vertical groove normally found on the median line of the upper lip csmith 2013-11-13T13:52:37Z MPheno.ontology MP:0012257 absent philtrum MP:0012257 absence of the vertical groove normally found on the median line of the upper lip https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the philtrum, typically resulting in decreased size csmith 2013-11-13T13:52:37Z hypoplastic philtrum MPheno.ontology MP:0012258 philtrum hypoplasia MP:0012258 decrease in the number of normal cells in normal arrangement in the philtrum, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 a protrusion of meninges through one or more defects in the the skull or spinal column, resulting in a cyst filled with cerebrospinal fluid; nervous tissue remains unaffected csmith 2013-11-13T14:19:37Z meningeal cyst MPheno.ontology MP:0012259 meningocele MP:0012259 a protrusion of meninges through one or more defects in the the skull or spinal column, resulting in a cyst filled with cerebrospinal fluid; nervous tissue remains unaffected ISBN:0-8036-0655-9 https://orcid.org/0000-0003-4606-0597 hernial protrusion of the brain and its meninges through an opening or defect in the skull, most often occurring in the occipital region csmith 2013-11-13T15:34:27Z MP:0010083 bifid cranium craniocele craniocoele cranium bifidum encephalocele encephalocoele MPheno.ontology MP:0012260 encephalomeningocele MP:0012260 hernial protrusion of the brain and its meninges through an opening or defect in the skull, most often occurring in the occipital region ISBN:0-683-40008-8 increase in the number of cells of the hindbrain undergoing programmed cell death csmith 2013-11-14T09:48:12Z increased rhombencephalon apoptosis MPheno.ontology MP:0012261 increased hindbrain apoptosis MP:0012261 increase in the number of cells of the hindbrain undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 deviation from the average range of hindbrain size compared to normal csmith 2013-11-14T09:52:00Z abnormal rhombencephalon size MPheno.ontology MP:0012262 abnormal hindbrain size MP:0012262 deviation from the average range of hindbrain size compared to normal https://orcid.org/0000-0002-6490-7723 size reduction or truncation of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived csmith 2013-11-14T09:53:41Z decreased rhombencephalon size reduced hindbrain size reduced rhombencephalon size small hindbrain small rhombencephalon truncated hindbrain truncated rhombencephalon MPheno.ontology MP:0012263 decreased hindbrain size MP:0012263 size reduction or truncation of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the hindbrain, typically resulting in decreased size csmith 2013-11-14T09:53:41Z hypoplastic hindbrain hypoplastic rhombencephalon rhombencephalon hypoplasia MPheno.ontology MP:0012264 hindbrain hypoplasia MP:0012264 decrease in the number of normal cells in normal arrangement in the hindbrain, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 greater than average size of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived csmith 2013-11-14T09:53:41Z enlarged hindbrain enlarged rhombencephalon expanded hindbrain expanded rhombencephalon increased rhombencephalon size MPheno.ontology MP:0012265 increased hindbrain size MP:0012265 greater than average size of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the hindbrain, typically resulting in increased size csmith 2013-11-14T09:53:41Z hyperplastic hindbrain hyperplastic rhombencephalon rhombencephalon hyperplasia MPheno.ontology MP:0012266 hindbrain hyperplasia MP:0012266 increase in the number of normal cells in normal arrangement in the hindbrain, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 any anomaly of the pale pink structure located in the tegmentum of the midbrain next to the substantia nigra and involved in motor coordination csmith 2013-11-14T10:20:32Z abnormal nucleus ruber morphology abnormal nucleus ruber tegmenti morphology MPheno.ontology MP:0012267 The red nucleus comprises a caudal magnocellular and a rostral parvocellular part. The red nucleus and substantia nigra are subcortical centers of the extrapyramidal motor system. In vertebrates without a significant corticospinal tract, gait is mainly controlled by the red nucleus. abnormal red nucleus morphology MP:0012267 any anomaly of the pale pink structure located in the tegmentum of the midbrain next to the substantia nigra and involved in motor coordination https://orcid.org/0000-0002-6490-7723 absence of the pale pink structure located in the tegmentum of the midbrain next to the substantia nigra and involved in motor coordination csmith 2013-11-14T10:24:22Z absent nucleus ruber absent nucleus ruber tegmenti MPheno.ontology MP:0012268 absent red nucleus MP:0012268 absence of the pale pink structure located in the tegmentum of the midbrain next to the substantia nigra and involved in motor coordination https://orcid.org/0000-0002-6490-7723 abnormal accumulation of subcutaneous fluid in the nuchal region i.e. at the back of the neck csmith 2013-11-14T10:33:36Z nuchal oedema posterior cervical edema posterior cervical oedema MPheno.ontology MP:0012269 nuchal edema MP:0012269 abnormal accumulation of subcutaneous fluid in the nuchal region i.e. at the back of the neck https://orcid.org/0000-0002-6490-7723 abnormal accumulation of fluid in the interstitial tissues and cavities of the body due to impaired cardiac function or congestive heart failure; usually characterized by increased venous and capillary pressures and often associated with renal sodium retention csmith 2013-11-14T10:55:14Z cardiac oedema MPheno.ontology MP:0012270 cardiac edema MP:0012270 abnormal accumulation of fluid in the interstitial tissues and cavities of the body due to impaired cardiac function or congestive heart failure; usually characterized by increased venous and capillary pressures and often associated with renal sodium retention https://orcid.org/0000-0002-6490-7723 any structural anomaly of the area of axial mesoderm that develops into the notochord csmith 2013-11-14T11:42:10Z abnormal axial chorda mesoderm morphology abnormal chorda mesoderm morphology abnormal chordomesoderm morphology abnormal presumptive notochord morphology MPheno.ontology MP:0012271 abnormal chordamesoderm morphology MP:0012271 any structural anomaly of the area of axial mesoderm that develops into the notochord https://orcid.org/0000-0002-6490-7723 reduced size or deficiency of the part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord csmith 2013-11-14T11:49:43Z deficient axial mesoderm reduced axial mesoderm size MPheno.ontology MP:0012272 decreased axial mesoderm size MP:0012272 reduced size or deficiency of the part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the axial mesoderm, typically resulting in decreased size csmith 2013-11-14T11:49:43Z hypoplastic axial mesoderm MPheno.ontology MP:0012273 axial mesoderm hypoplasia MP:0012273 decrease in the number of normal cells in normal arrangement in the axial mesoderm, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 greater than average size of the part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord csmith 2013-11-14T11:49:43Z expanded axial mesoderm MPheno.ontology MP:0012274 increased axial mesoderm size MP:0012274 greater than average size of the part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord https://orcid.org/0000-0002-6490-7723 any structural anomaly of the area of axial mesoderm that develops into the prechordal plate csmith 2013-11-14T11:55:40Z MPheno.ontology MP:0012275 abnormal prechordal mesoderm morphology MP:0012275 any structural anomaly of the area of axial mesoderm that develops into the prechordal plate https://orcid.org/0000-0002-6490-7723 absence of or failure to form the area of axial mesoderm that develops into the prechordal plate csmith 2013-11-14T11:56:18Z MPheno.ontology MP:0012276 absent prechordal mesoderm MP:0012276 absence of or failure to form the area of axial mesoderm that develops into the prechordal plate https://orcid.org/0000-0002-6490-7723 increased number of cells undergoing programmed cell death in the primordial region of the embryo that arises to form the tail of the adult csmith 2013-11-14T11:58:55Z MPheno.ontology MP:0012277 increased tail bud apoptosis MP:0012277 increased number of cells undergoing programmed cell death in the primordial region of the embryo that arises to form the tail of the adult https://orcid.org/0000-0002-6490-7723 any structural anomaly of the splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium csmith 2013-11-14T12:10:07Z abnormal cardiac mesoderm morphology abnormal cardiac mesoderm primordium morphology MPheno.ontology MP:0012278 abnormal cardiogenic mesoderm morphology MP:0012278 any structural anomaly of the splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium https://orcid.org/0000-0002-6490-7723 an increase in the width of the long flat bone of the chest that articulates with the clavicle and first seven rib pairs csmith 2013-11-14T12:28:27Z broad breastbone broad sternum increased sternum width wide breastbone MPheno.ontology MP:0012279 wide sternum MP:0012279 an increase in the width of the long flat bone of the chest that articulates with the clavicle and first seven rib pairs https://orcid.org/0000-0002-6490-7723 atypical size of any of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum csmith 2013-11-14T12:32:20Z MPheno.ontology MP:0012280 abnormal sternebra size MP:0012280 atypical size of any of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum https://orcid.org/0000-0002-6490-7723 reduced average size of any of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum csmith 2013-11-14T12:32:20Z reduced sternebra size small sternebra MPheno.ontology MP:0012281 decreased sternebra size MP:0012281 reduced average size of any of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum https://orcid.org/0000-0002-6490-7723 deviation from the average number of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum csmith 2013-11-14T12:32:20Z MPheno.ontology MP:0012282 abnormal sternebra number MP:0012282 deviation from the average number of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum https://orcid.org/0000-0002-6490-7723 reduced average number of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum csmith 2013-11-14T12:32:20Z reduced sternebra number MPheno.ontology MP:0012283 decreased sternebra number MP:0012283 reduced average number of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum https://orcid.org/0000-0002-6490-7723 increased average number of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum csmith 2013-11-14T12:32:20Z MPheno.ontology MP:0012284 increased sternebra number MP:0012284 increased average number of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum https://orcid.org/0000-0002-6490-7723 abnormal alignment of the sternebrae along the ventral midline csmith 2013-11-14T12:33:06Z malaligned sternebrae malpositioned sternebrae MPheno.ontology MP:0012285 misaligned sternebrae MP:0012285 abnormal alignment of the sternebrae along the ventral midline https://orcid.org/0000-0002-6490-7723 decreased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity csmith 2013-11-14T13:01:55Z decreased frequency of REM sleep decreased frequency of rapid eye movement sleep MPheno.ontology MP:0012286 decreased frequency of paradoxical sleep MP:0012286 decreased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity https://orcid.org/0000-0001-5208-3432 increased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity csmith 2013-11-14T13:01:55Z increased frequency of REM sleep increased frequency of rapid eye movement sleep MPheno.ontology MP:0012287 increased frequency of paradoxical sleep MP:0012287 increased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity https://orcid.org/0000-0001-5208-3432 any anomaly in the frequency or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity csmith 2013-11-14T13:01:55Z abnormal REM sleep pattern abnormal rapid eye movement sleep pattern MPheno.ontology MP:0012288 abnormal paradoxical sleep pattern MP:0012288 any anomaly in the frequency or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity https://orcid.org/0000-0003-3691-0324 any anomaly in the frequency or duration of the sleep stages characterized by distinct EEG patterns, decreased metabolic activity, slowed breathing and heart rate, and the absence of rapid eye movement and dreaming csmith 2013-11-14T13:01:55Z abnormal NREM sleep pattern MPheno.ontology MP:0012289 NREM sleep was divided into four stages in the Rechtschaffen and Kales (R&K) standardization of 1968. That has been reduced to three in the 2007 update by The American Academy of Sleep Medicine (AASM), combining the previous stage 3 and 4 to a single stage 3 also known as deep sleep or slow-wave sleep. The three stages that comprise NREM sleep account for 75-80 percent of total sleep time in humans. abnormal non-rapid eye movement sleep pattern MP:0012289 any anomaly in the frequency or duration of the sleep stages characterized by distinct EEG patterns, decreased metabolic activity, slowed breathing and heart rate, and the absence of rapid eye movement and dreaming https://orcid.org/0000-0003-3691-0324 any anonaly in the third, or deep sleep stage of NREM sleep csmith 2013-11-14T13:01:55Z abnormal SWS pattern abnormal deep sleep pattern MPheno.ontology MP:0012290 NREM sleep was divided into four stages in the Rechtschaffen and Kales (R&K) standardization of 1968. That has been reduced to three in the 2007 update by The American Academy of Sleep Medicine (AASM), combining the previous stage 3 and 4 to a single stage 3 also known as deep sleep or slow-wave sleep. abnormal slow-wave sleep pattern MP:0012290 any anonaly in the third, or deep sleep stage of NREM sleep https://orcid.org/0000-0003-3691-0324 increased length of time of the third, or deep sleep stage of NREM sleep csmith 2013-11-14T13:01:55Z increased SWS duration increased deep sleep duration MPheno.ontology MP:0012291 NREM sleep was divided into four stages in the Rechtschaffen and Kales (R&K) standardization of 1968. That has been reduced to three in the 2007 update by The American Academy of Sleep Medicine (AASM), combining the previous stage 3 and 4 to a single stage 3 also known as deep sleep or slow-wave sleep. increased slow-wave sleep duration MP:0012291 increased length of time of the third, or deep sleep stage of NREM sleep https://orcid.org/0000-0003-3691-0324 reduced length of time of the third, or deep sleep stage of NREM sleep csmith 2013-11-14T13:01:55Z decreased SWS duration decreased deep sleep duration MPheno.ontology MP:0012292 NREM sleep was divided into four stages in the Rechtschaffen and Kales (R&K) standardization of 1968. That has been reduced to three in the 2007 update by The American Academy of Sleep Medicine (AASM), combining the previous stage 3 and 4 to a single stage 3 also known as deep sleep or slow-wave sleep. decreased slow-wave sleep duration MP:0012292 reduced length of time of the third, or deep sleep stage of NREM sleep https://orcid.org/0000-0003-3691-0324 impaired ability to escape a hostile environment to actively avoid the unpleasant or punishing stimuli ( e.g. shock) previously encountered in this environment csmith 2013-11-14T14:41:42Z MPheno.ontology MP:0012293 impaired active avoidance behavior MP:0012293 impaired ability to escape a hostile environment to actively avoid the unpleasant or punishing stimuli ( e.g. shock) previously encountered in this environment https://orcid.org/0000-0003-3691-0324 enhanced ability to escape a hostile environment to actively avoid the unpleasant or punishing stimuli ( e.g. shock) previously encountered in this environment csmith 2013-11-14T14:41:42Z enhanced active avoidance behaviour MPheno.ontology MP:0012294 enhanced active avoidance behavior MP:0012294 enhanced ability to escape a hostile environment to actively avoid the unpleasant or punishing stimuli ( e.g. shock) previously encountered in this environment https://orcid.org/0000-0003-3691-0324 enhanced ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus csmith 2013-11-14T14:47:48Z MPheno.ontology MP:0012295 enhanced discrimination learning MP:0012295 enhanced ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus https://orcid.org/0000-0003-3691-0324 impaired ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus csmith 2013-11-14T14:47:48Z MPheno.ontology MP:0012296 impaired discrimination learning MP:0012296 impaired ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus https://orcid.org/0000-0003-3691-0324 increased activity after restriction of food csmith 2013-11-14T16:03:37Z MPheno.ontology MP:0012297 hyperactivity elicited by feed restriction MP:0012297 increased activity after restriction of food https://orcid.org/0000-0003-3691-0324 decreased activity after restriction of food csmith 2013-11-14T16:05:26Z MPheno.ontology MP:0012298 hypoactivity in response to feed restriction MP:0012298 decreased activity after restriction of food https://orcid.org/0000-0003-3691-0324 excessive accumulation of fluid within the allantoic sac csmith 2013-11-14T16:09:48Z hydrallantois hydroponic allantois hydrops of allantois MPheno.ontology MP:0012299 hydropic allantois MP:0012299 excessive accumulation of fluid within the allantoic sac https://orcid.org/0000-0002-6490-7723 any structural anomaly of the three blood vessels, usually one large umbilical vein and two small umbilical arteries, buried within Wharton's jelly, that transport blood to and from the placenta, where exchange between the mother and fetus takes place; the umbilical vein carries oxygenated, nutrient-rich blood from the placenta to the fetus, and the umbilical arteries carry deoxygenated, nutrient-depleted blood from the fetus to the placenta csmith 2013-11-14T16:15:57Z abnormal umbilical blood vessel morphology abnormal umbilical vasculature abnormal umbilical vessel morphology MPheno.ontology MP:0012300 abnormal umbilical cord blood vessel morphology MP:0012300 any structural anomaly of the three blood vessels, usually one large umbilical vein and two small umbilical arteries, buried within Wharton's jelly, that transport blood to and from the placenta, where exchange between the mother and fetus takes place; the umbilical vein carries oxygenated, nutrient-rich blood from the placenta to the fetus, and the umbilical arteries carry deoxygenated, nutrient-depleted blood from the fetus to the placenta https://orcid.org/0000-0002-6490-7723 absence of any of the three blood vessels, usually one large umbilical vein and two small umbilical arteries, buried within Wharton's jelly, that transport blood to and from the placenta, where exchange between the mother and fetus takes place csmith 2013-11-14T16:17:07Z absent umbilical blood vessels absent umbilical vessels MPheno.ontology MP:0012301 absent umbilical cord blood vessels MP:0012301 absence of any of the three blood vessels, usually one large umbilical vein and two small umbilical arteries, buried within Wharton's jelly, that transport blood to and from the placenta, where exchange between the mother and fetus takes place https://orcid.org/0000-0002-6490-7723 abnormal narrowing or constriction of one or both umbilical arteries that carry deoxygenated, nutrient-depleted blood from the fetus to the placenta csmith 2013-11-14T16:18:48Z MPheno.ontology MP:0012302 umbilical artery stenosis MP:0012302 abnormal narrowing or constriction of one or both umbilical arteries that carry deoxygenated, nutrient-depleted blood from the fetus to the placenta https://orcid.org/0000-0002-6490-7723 abnormal narrowing or constriction of the unpaired umbilical vein that carries oxygenated, nutrient-rich blood from the placenta to the fetus csmith 2013-11-14T16:19:11Z MPheno.ontology MP:0012303 umbilical vein stenosis MP:0012303 abnormal narrowing or constriction of the unpaired umbilical vein that carries oxygenated, nutrient-rich blood from the placenta to the fetus https://orcid.org/0000-0002-6490-7723 decreased average umbilical cord length compared to normal csmith 2013-11-14T16:21:49Z decreased umbilical cord length reduced umbilical cord length MPheno.ontology MP:0012304 short umbilical cord MP:0012304 decreased average umbilical cord length compared to normal https://orcid.org/0000-0002-6490-7723 bleeding into or from the umbilical cord csmith 2013-11-14T16:21:49Z umbilical cord bleeding umbilical cord haemorrhage MPheno.ontology MP:0012305 umbilical cord hemorrhage MP:0012305 bleeding into or from the umbilical cord https://orcid.org/0000-0002-6490-7723 enhanced ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues csmith 2013-11-15T09:41:57Z MPheno.ontology MP:0012306 enhanced spatial learning MP:0012306 enhanced ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues https://orcid.org/0000-0003-3691-0324 impaired ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues csmith 2013-11-15T09:43:19Z spatial learning impairment in morris water maze test visible learning impairment in morris water maze test MPheno.ontology MP:0012307 impaired spatial learning MP:0012307 impaired ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues https://orcid.org/0000-0003-3691-0324 subjects demonstrate predilection for salty tasting substances over other offered substances csmith 2013-11-15T12:42:27Z MPheno.ontology MP:0012308 salt preference MP:0012308 subjects demonstrate predilection for salty tasting substances over other offered substances https://orcid.org/0000-0003-3691-0324 any structural anomaly of the segment of dorsal aorta located between the third (III) and fourth (IV) aortic arches; it normally regresses early in development to allow the carotid axis to take its definitive appearance csmith 2013-11-15T15:25:58Z abnormal carotid duct morphology MPheno.ontology MP:0012309 abnormal ductus caroticus morphology MP:0012309 any structural anomaly of the segment of dorsal aorta located between the third (III) and fourth (IV) aortic arches; it normally regresses early in development to allow the carotid axis to take its definitive appearance https://orcid.org/0000-0002-6490-7723 uni- or bilateral persistence of the segment of dorsal aorta located between the third (III) and fourth (IV) aortic arches, which normally regresses early in development; persistence of ductus caroticus with regression of third arch or fourth arch causes the internal and external carotid arteries to arise from the aortic arch on the left side csmith 2013-11-15T15:25:58Z persistent carotid duct MPheno.ontology MP:0012310 persistent ductus caroticus MP:0012310 uni- or bilateral persistence of the segment of dorsal aorta located between the third (III) and fourth (IV) aortic arches, which normally regresses early in development; persistence of ductus caroticus with regression of third arch or fourth arch causes the internal and external carotid arteries to arise from the aortic arch on the left side https://orcid.org/0000-0002-6490-7723 decrease in the amount of discharge of feces from the body csmith 2013-11-15T15:36:25Z decreased defaecation amount MPheno.ontology MP:0012311 decreased defecation amount MP:0012311 decrease in the amount of discharge of feces from the body https://orcid.org/0000-0001-5208-3432 impaired ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus csmith 2013-11-22T13:08:04Z decreased avoidance learning behavior impaired avoidance learning behaviour reduced avoidance learning behavior MPheno.ontology MP:0012312 impaired avoidance learning behavior MP:0012312 impaired ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus https://orcid.org/0000-0001-5208-3432 enhanced ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus csmith 2013-11-22T13:08:04Z enhanced avoidance learning behaviour MPheno.ontology MP:0012313 enhanced avoidance learning behavior MP:0012313 enhanced ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus https://orcid.org/0000-0001-5208-3432 enhanced ability to aquire lasting change in behavior that is the result of experience csmith 2013-11-22T13:12:17Z MPheno.ontology MP:0012314 enhanced learning MP:0012314 enhanced ability to aquire lasting change in behavior that is the result of experience http:psychology.about.com/od/lindex/g/learning.htm impaired ability to aquire lasting change in behavior that is the result of experience csmith 2013-11-22T13:12:17Z MPheno.ontology MP:0012315 impaired learning MP:0012315 impaired ability to aquire lasting change in behavior that is the result of experience http:psychology.about.com/od/lindex/g/learning.htm enhanced ability to change behavior in response to a reward or punishment each time an action is performed csmith 2013-11-22T13:12:17Z enhanced conditioning behaviour increased conditioning behavior MPheno.ontology MP:0012316 enhanced conditioning behavior MP:0012316 enhanced ability to change behavior in response to a reward or punishment each time an action is performed http://dictionary.reference.com/browse/conditioning impaired ability to change behavior in response to a reward or punishment each time an action is performed csmith 2013-11-22T13:12:17Z decreased conditioning behavior impaired conditioning behaviour MPheno.ontology MP:0012317 impaired conditioning behavior MP:0012317 impaired ability to change behavior in response to a reward or punishment each time an action is performed http://dictionary.reference.com/browse/conditioning impaired ability or inability to extinguish aversive memories associated with a traumatic incident csmith 2013-11-22T13:47:45Z MPheno.ontology MP:0012318 slow extinction of fear memory MP:0012318 impaired ability or inability to extinguish aversive memories associated with a traumatic incident http://www.mpipsykl.mpg.de/en/research/themes/depression/wotjak_02/ enhanced ability to extinguish aversive memories associated with a traumatic incident csmith 2013-11-22T13:49:33Z MPheno.ontology MP:0012319 fast extinction of fear memory MP:0012319 enhanced ability to extinguish aversive memories associated with a traumatic incident http://www.mpipsykl.mpg.de/en/research/themes/depression/wotjak_02/ aberrant physical bulk or volume of fat in the whole body csmith 2013-11-22T15:08:45Z MPheno.ontology MP:0012320 abnormal body fat mass MP:0012320 aberrant physical bulk or volume of fat in the whole body MPD:Molly aberrant physical bulk or volume of the body including lean body mass, fat body mass, and bone tissue csmith 2013-11-22T15:08:45Z MPheno.ontology MP:0012321 abnormal total tissue mass MP:0012321 aberrant physical bulk or volume of the body including lean body mass, fat body mass, and bone tissue MPD:Molly decreased physical bulk or volume of the body including lean body mass, fat body mass, and bone tissue csmith 2013-11-22T15:08:45Z MPheno.ontology MP:0012322 decreased total tissue mass MP:0012322 decreased physical bulk or volume of the body including lean body mass, fat body mass, and bone tissue MPD:Molly increased physical bulk or volume of the body including lean body mass, fat body mass, and bone tissue csmith 2013-11-22T15:08:45Z MPheno.ontology MP:0012323 increased total tissue mass MP:0012323 increased physical bulk or volume of the body including lean body mass, fat body mass, and bone tissue MPD:Molly aberrant blood level of the family of glycoproteins which neutralize the ability of thrombin to promote blood coagulation csmith 2013-11-22T15:42:02Z MPheno.ontology MP:0012324 Six naturally occurring antithrombins have been identified and are designated by Roman numerals I to VI. Of these, Antithrombin I (see FIBRIN) and ANTITHROMBIN III appear to be of major importance. abnormal circulating antithrombin level MP:0012324 aberrant blood level of the family of glycoproteins which neutralize the ability of thrombin to promote blood coagulation ISBN:0-683-40008-8 MPD:Molly lower than normal levels of the family of glycoproteins which neutralize the ability of thrombin to promote blood coagulation; low levels are associated with vein thrombosis and pulmonary embolism csmith 2013-11-22T15:42:02Z reduced circulating antithrombin level MPheno.ontology MP:0012325 decreased circulating antithrombin level MP:0012325 lower than normal levels of the family of glycoproteins which neutralize the ability of thrombin to promote blood coagulation; low levels are associated with vein thrombosis and pulmonary embolism ISBN:0-683-40008-8 MPD:Molly higher than normal levels of the family of glycoproteins which neutralize the ability of thrombin to promote blood coagulation csmith 2013-11-22T15:42:02Z MPheno.ontology MP:0012326 increased circulating antithrombin level MP:0012326 higher than normal levels of the family of glycoproteins which neutralize the ability of thrombin to promote blood coagulation ISBN:0-683-40008-8 MPD:Molly aberrant levels of the antihemophilic factor that is part of the factor VIII/von Willebrand factor complex; it is produced in the liver and acts in the intrinsic pathway of blood coagulation; it serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin csmith 2013-11-22T15:42:02Z abnormal AHF level abnormal Coagulation Factor VIII level abnormal anti-hemophilic factor level MPheno.ontology MP:0012327 abnormal circulating factor VIII level MP:0012327 aberrant levels of the antihemophilic factor that is part of the factor VIII/von Willebrand factor complex; it is produced in the liver and acts in the intrinsic pathway of blood coagulation; it serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin MPD:Molly MeSH:D12.776.124.125.350 reduced levels of the antihemophilic factor that is part of the factor VIII/von Willebrand factor complex; it is produced in the liver and acts in the intrinsic pathway of blood coagulation; it serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin csmith 2013-11-22T15:42:02Z decreased AHF level decreased Coagulation Factor VIII level decreased anti-hemophilic factor level reduced AHF level reduced Coagulation Factor VIII level reduced anti-hemophilic factor level reduced circulating factor VIII level MPheno.ontology MP:0012328 decreased circulating factor VIII level MP:0012328 reduced levels of the antihemophilic factor that is part of the factor VIII/von Willebrand factor complex; it is produced in the liver and acts in the intrinsic pathway of blood coagulation; it serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin MPD:Molly MeSH:D12.776.124.125.350 greater levels of the antihemophilic factor that is part of the factor VIII/von Willebrand factor complex; it is produced in the liver and acts in the intrinsic pathway of blood coagulation; it serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin csmith 2013-11-22T15:42:02Z increased AHF level increased Coagulation Factor VIII level increased anti-hemophilic factor level MPheno.ontology MP:0012329 increased circulating factor VIII level MP:0012329 greater levels of the antihemophilic factor that is part of the factor VIII/von Willebrand factor complex; it is produced in the liver and acts in the intrinsic pathway of blood coagulation; it serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin MPD:Molly MeSH:D12.776.124.125.350 reduced levels in the blood of a globulin that is converted into fibrin by the action of thrombin in the presence of ionized calcium to produce coagulation of the blood csmith 2013-11-22T15:42:02Z hypofibrinogenaemia hypofibrinogenemia reduced circulating fibrinogen level MPheno.ontology MP:0012330 decreased circulating fibrinogen level MP:0012330 reduced levels in the blood of a globulin that is converted into fibrin by the action of thrombin in the presence of ionized calcium to produce coagulation of the blood ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 greater levels in the blood of a globulin that is converted into fibrin by the action of thrombin in the presence of ionized calcium to produce coagulation of the blood csmith 2013-11-22T15:42:02Z hyperfibrinogenaemia hyperfibrinogenemia MPheno.ontology MP:0012331 increased circulating fibrinogen level MP:0012331 greater levels in the blood of a globulin that is converted into fibrin by the action of thrombin in the presence of ionized calcium to produce coagulation of the blood ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 reduced blood level of the glycoprotein that binds to integrins or components of the extracellular matrix; plays a major role in cell adhesion, growth, migration, differentiation, wound healing, and embryonic development csmith 2013-11-22T15:42:02Z decreased soluble fibronectin level reduced soluble fibronectin level reduced circulating fibronectin level decreased plasma fibronectin level reduced plasma fibronectin level MPheno.ontology MP:0012332 decreased circulating fibronectin level MP:0012332 reduced blood level of the glycoprotein that binds to integrins or components of the extracellular matrix; plays a major role in cell adhesion, growth, migration, differentiation, wound healing, and embryonic development MPD:Molly greater blood level of the glycoprotein that binds to integrins or components of the extracellular matrix; plays a major role in cell adhesion, growth, migration, differentiation, wound healing, and embryonic development csmith 2013-11-22T15:42:02Z increased soluble fibronectin level increased plasma fibronectin level MPheno.ontology MP:0012333 increased circulating fibronectin level MP:0012333 greater blood level of the glycoprotein that binds to integrins or components of the extracellular matrix; plays a major role in cell adhesion, growth, migration, differentiation, wound healing, and embryonic development MPD:Molly reduced amount in the blood of sulfur-containing alpha-amino acid found in the plasma; blood levels are regulated by folic acid, vitamin B6 and vitamin B12 csmith 2013-11-22T15:42:02Z decreased blood serum homocysteine level hypohomocysteinemia reduced blood serum homocysteine level reduced circulating homocysteine level MPheno.ontology MP:0012334 A homocysteine measurement is the quantification of homocsyteine in blood or urine and is used in the diagnosis of B12 and/or folate deficiency, and as part of a cardiac risk assessment. decreased circulating homocysteine level MP:0012334 reduced amount in the blood of sulfur-containing alpha-amino acid found in the plasma; blood levels are regulated by folic acid, vitamin B6 and vitamin B12 https://orcid.org/0000-0003-3691-0324 greater amount in the blood of sulfur-containing alpha-amino acid found in the plasma; blood levels are regulated by folic acid, vitamin B6 and vitamin B12 csmith 2013-11-22T15:42:02Z increased blood serum homocysteine level hyperhomocystinemia MPheno.ontology MP:0012335 A homocysteine measurement is the quantification of homocsyteine in blood or urine and is used in the diagnosis of B12 and/or folate deficiency, and as part of a cardiac risk assessment. increased circulating homocysteine level MP:0012335 greater amount in the blood of sulfur-containing alpha-amino acid found in the plasma; blood levels are regulated by folic acid, vitamin B6 and vitamin B12 https://orcid.org/0000-0003-3691-0324 reduced level of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3) csmith 2013-11-22T15:42:02Z decreased calciferol level decreased calciol level decreased cholecalciferol level decreased ergocalciferol level decreased vitamin D2 level decreased vitamin D3 level MPheno.ontology MP:0012336 decreased vitamin D level MP:0012336 reduced level of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3) GO:0042368 greater level of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3) csmith 2013-11-22T15:42:02Z increased calciferol level increased calciol level increased cholecalciferol level increased ergocalciferol level increased vitamin D2 level increased vitamin D3 level MPheno.ontology MP:0012337 increased vitamin D level MP:0012337 greater level of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3) GO:0042368 reduced level of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats csmith 2013-11-22T15:42:02Z decreased bile amount decreased bile volume MPheno.ontology decreased bile acid level MP:0012338 decreased bile salt level MP:0012338 reduced level of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats MESH:D04.808.105 https://orcid.org/0000-0003-3691-0324 excessively high concentrations of potassium in the circulating blood; may be due to renal insufficiency or to mineralocorticoid deficiency or resistance csmith 2013-11-22T15:42:02Z hyperkalaemia hyperpotassaemia hyperpotassemia MPheno.ontology MP:0012339 hyperkalemia MP:0012339 excessively high concentrations of potassium in the circulating blood; may be due to renal insufficiency or to mineralocorticoid deficiency or resistance ISBN:0-683-40008-8 less than the expected number of a usually benign tumor found in the testis that is the result of an anomaly of germ cell development, occurring in a specific population in a given time period; teratomas typically contains a diversity of tissues often representing all organ systems such as hair, teeth, bone, thyroid, or nerve tissue csmith 2013-11-25T10:45:03Z MPheno.ontology MP:0012340 decreased testicular teratoma incidence MP:0012340 less than the expected number of a usually benign tumor found in the testis that is the result of an anomaly of germ cell development, occurring in a specific population in a given time period; teratomas typically contains a diversity of tissues often representing all organ systems such as hair, teeth, bone, thyroid, or nerve tissue https://orcid.org/0000-0001-5208-3432 reduced behavioral response induced by a foreign compound, such as low consumption preference, low induced hyperactivity or stereotypic behavior csmith 2013-11-25T10:55:11Z MPheno.ontology MP:0012341 low preference for an addictive substance MP:0012341 reduced behavioral response induced by a foreign compound, such as low consumption preference, low induced hyperactivity or stereotypic behavior https://orcid.org/0000-0001-5208-3432 enhanced behavioral response induced by a foreign compound, such as high consumption preference, high induced hyperactivity or stereotypic behavior csmith 2013-11-25T10:55:11Z MPheno.ontology MP:0012342 high preference for an addictive substance MP:0012342 enhanced behavioral response induced by a foreign compound, such as high consumption preference, high induced hyperactivity or stereotypic behavior https://orcid.org/0000-0001-5208-3432 increased biting or chewing on something csmith 2013-11-25T11:16:03Z MPheno.ontology MP:0012343 increased gnawing activity MP:0012343 increased biting or chewing on something https://orcid.org/0000-0001-5208-3432 decreased biting or chewing on something csmith 2013-11-25T11:16:03Z MPheno.ontology MP:0012344 decreased gnawing activity MP:0012344 decreased biting or chewing on something https://orcid.org/0000-0001-5208-3432 increased movement of the tail in rapid succession csmith 2013-11-25T11:16:03Z MPheno.ontology MP:0012345 increased tail rattling MP:0012345 increased movement of the tail in rapid succession https://orcid.org/0000-0001-5208-3432 decreased movement of the tail in rapid succession csmith 2013-11-25T11:16:03Z MPheno.ontology MP:0012346 decreased tail rattling MP:0012346 decreased movement of the tail in rapid succession https://orcid.org/0000-0001-5208-3432 subjects demonstrate a low predilection for sweet tasting substances over other offered substances csmith 2013-11-25T12:55:41Z MPheno.ontology MP:0012347 low sweet preference MP:0012347 subjects demonstrate a low predilection for sweet tasting substances over other offered substances https://orcid.org/0000-0001-5208-3432 higher threshold to induction of seizure activity response by an agent that normally can induce uncontrolled electrical activity in the brain, producing a physical convulsion and/or minor change in physical behavior csmith 2013-11-25T13:04:07Z MPheno.ontology resistant to induction of seizure by inducing agent MP:0012348 decreased susceptibility to induction of seizure by inducing agent MP:0012348 higher threshold to induction of seizure activity response by an agent that normally can induce uncontrolled electrical activity in the brain, producing a physical convulsion and/or minor change in physical behavior https://orcid.org/0000-0001-5208-3432 lower threshold to induction of seizure activity response by an agent that normally can induce uncontrolled electrical activity in the brain, producing a physical convulsion and/or minor change in physical behavior csmith 2013-11-25T13:04:07Z MPheno.ontology susceptible to induction of seizure by inducing agent MP:0012349 increased susceptibility to induction of seizure by inducing agent MP:0012349 lower threshold to induction of seizure activity response by an agent that normally can induce uncontrolled electrical activity in the brain, producing a physical convulsion and/or minor change in physical behavior https://orcid.org/0000-0001-5208-3432 when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward males when in competition for females csmith 2013-11-25T13:25:07Z MPheno.ontology MP:0012350 increased aggression towards males in competition for females MP:0012350 when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward males when in competition for females https://orcid.org/0000-0001-5208-3432 a retrogressive impairment of function or destruction of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure csmith 2013-11-25T16:17:24Z corneal degeneration MPheno.ontology MP:0012351 cornea degeneration MP:0012351 a retrogressive impairment of function or destruction of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure https://orcid.org/0000-0003-3691-0324 the state or process of the cornea deteriorating progressively over time csmith 2013-11-25T16:17:24Z progressive corneal degeneration MPheno.ontology MP:0012352 progressive cornea degeneration MP:0012352 the state or process of the cornea deteriorating progressively over time https://orcid.org/0000-0001-5208-3432 the state or process of the cornea deteriorating in both eyes csmith 2013-11-25T16:17:24Z bilateral corneal degeneration MPheno.ontology MP:0012353 bilateral cornea degeneration MP:0012353 the state or process of the cornea deteriorating in both eyes https://orcid.org/0000-0001-5208-3432 abnormal amount of time it takes plasma to clot after the addition of tissue factor e.g., platelet tissue factor, factor III, thromboplastin, CD142; measure of the quality of the extrinsic pathway of coagulation csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012354 abnormal prothrombin time MP:0012354 abnormal amount of time it takes plasma to clot after the addition of tissue factor e.g., platelet tissue factor, factor III, thromboplastin, CD142; measure of the quality of the extrinsic pathway of coagulation MPD:Molly decreased amount of time it takes plasma to clot after the addition of tissue factor e.g., platelet tissue factor, factor III, thromboplastin, CD142; measure of the quality of the extrinsic pathway of coagulation csmith 2013-11-26T09:38:45Z shortened prothrombin time MPheno.ontology MP:0012355 decreased prothrombin time MP:0012355 decreased amount of time it takes plasma to clot after the addition of tissue factor e.g., platelet tissue factor, factor III, thromboplastin, CD142; measure of the quality of the extrinsic pathway of coagulation MPD:Molly increased amount of time it takes plasma to clot after the addition of tissue factor e.g., platelet tissue factor, factor III, thromboplastin, CD142; measure of the quality of the extrinsic pathway of coagulation csmith 2013-11-26T09:38:45Z prolonged prothrombin time MPheno.ontology MP:0012356 increased prothrombin time MP:0012356 increased amount of time it takes plasma to clot after the addition of tissue factor e.g., platelet tissue factor, factor III, thromboplastin, CD142; measure of the quality of the extrinsic pathway of coagulation MPD:Molly abnormal amount of time it takes blood to clot after the addition of phospholipid, calcium, and an activator, e.g., silica, kaolin; measure of the quality of the intrinsic and common coagulation pathways csmith 2013-11-26T09:38:45Z abnormal aPTT abnormal activated partial thromboplastin time abnormal activated thromboplastin time MPheno.ontology MP:0012357 abnormal partial thromboplastin time MP:0012357 abnormal amount of time it takes blood to clot after the addition of phospholipid, calcium, and an activator, e.g., silica, kaolin; measure of the quality of the intrinsic and common coagulation pathways MPD:Molly decreased amount of time it takes blood to clot after the addition of phospholipid, calcium, and an activator, e.g., silica, kaolin; measure of the quality of the intrinsic and common coagulation pathways csmith 2013-11-26T09:38:45Z decreased aPTT decreased activated thromboplastin time reduced aPPT reduced partial thromboplastin time shortened partial thromboplastin time MPheno.ontology MP:0012358 decreased partial thromboplastin time MP:0012358 decreased amount of time it takes blood to clot after the addition of phospholipid, calcium, and an activator, e.g., silica, kaolin; measure of the quality of the intrinsic and common coagulation pathways MPD:Molly increased amount of time it takes blood to clot after the addition of phospholipid, calcium, and an activator, e.g., silica, kaolin; measure of the quality of the intrinsic and common coagulation pathways csmith 2013-11-26T09:38:45Z increased aPTT increased activated thromboplastin time prolonged activated partial thromboplastin time MPheno.ontology MP:0012359 increased partial thromboplastin time MP:0012359 increased amount of time it takes blood to clot after the addition of phospholipid, calcium, and an activator, e.g., silica, kaolin; measure of the quality of the intrinsic and common coagulation pathways MPD:Molly aberrant number of larger than normal cells which are unstained using routine blood count methodologies; large unstained cells (LUC) are larger than normal lymphocytes, and may be atypical lymphocytes, myeloperoxidase deficient cells or peroxidase negative blasts csmith 2013-11-26T09:38:45Z abnormal LUC number MPheno.ontology MP:0012360 Aberrations in the count of large unstained cells may be indicative of viral disease or leukemia. abnormal large unstained cell number MP:0012360 aberrant number of larger than normal cells which are unstained using routine blood count methodologies; large unstained cells (LUC) are larger than normal lymphocytes, and may be atypical lymphocytes, myeloperoxidase deficient cells or peroxidase negative blasts MPD:Molly PMID:10388493 decreased number of larger than normal cells which are unstained using routine blood count methodologies; large unstained cells (LUC) are larger than normal lymphocytes, and may be atypical lymphocytes, myeloperoxidase deficient cells or peroxidase negative blasts csmith 2013-11-26T09:38:45Z decreased LUC number MPheno.ontology MP:0012361 Aberrations in the count of large unstained cells may be indicative of viral disease or leukemia. decreased large unstained cell number MP:0012361 decreased number of larger than normal cells which are unstained using routine blood count methodologies; large unstained cells (LUC) are larger than normal lymphocytes, and may be atypical lymphocytes, myeloperoxidase deficient cells or peroxidase negative blasts MPD:Molly PMID:10388493 increased number of larger than normal cells which are unstained using routine blood count methodologies; large unstained cells (LUC) are larger than normal lymphocytes, and may be atypical lymphocytes, myeloperoxidase deficient cells or peroxidase negative blasts csmith 2013-11-26T09:38:45Z increased LUC number MPheno.ontology MP:0012362 Aberrations in the count of large unstained cells may be indicative of viral disease or leukemia. increased large unstained cell number MP:0012362 increased number of larger than normal cells which are unstained using routine blood count methodologies; large unstained cells (LUC) are larger than normal lymphocytes, and may be atypical lymphocytes, myeloperoxidase deficient cells or peroxidase negative blasts MPD:Molly PMID:10388493 anomaly in the amount in red blood cells of sodium csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012363 abnormal erythrocyte sodium level MP:0012363 anomaly in the amount in red blood cells of sodium MPD:Molly decrease in the amount in red blood cells of sodium csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012364 decreased erythrocyte sodium level MP:0012364 decrease in the amount in red blood cells of sodium MPD:Molly increase in the amount in red blood cells of sodium csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012365 increased erythrocyte sodium level MP:0012365 increase in the amount in red blood cells of sodium MPD:Molly anomaly in the amount in red blood cells of magnesium csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012366 abnormal erythrocyte magnesium level MP:0012366 anomaly in the amount in red blood cells of magnesium MPD:Molly decrease in the amount in red blood cells of magnesium csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012367 decreased erythrocyte magnesium level MP:0012367 decrease in the amount in red blood cells of magnesium MPD:Molly increase in the amount in red blood cells of magnesium csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012368 increased erythrocyte magnesium level MP:0012368 increase in the amount in red blood cells of magnesium MPD:Molly anomaly in the amount in red blood cells of potassium csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012369 abnormal erythrocyte potassium level MP:0012369 anomaly in the amount in red blood cells of potassium MPD:Molly decrease in the amount in red blood cells of potassium csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012370 decreased erythrocyte potassium level MP:0012370 decrease in the amount in red blood cells of potassium MPD:Molly increase in the amount in red blood cells of potassium csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012371 increased erythrocyte potassium level MP:0012371 increase in the amount in red blood cells of potassium MPD:Molly abnormal quantity in red blood cells of atoms carrying an electric charge csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012372 abnormal erythrocyte ion content MP:0012372 abnormal quantity in red blood cells of atoms carrying an electric charge MPD:Molly abnormal quantity in red blood cells of magnesium atoms carrying an electric charge csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012373 abnormal erythrocyte magnesium ion content MP:0012373 abnormal quantity in red blood cells of magnesium atoms carrying an electric charge MPD:Molly decreased quantity in red blood cells of magnesium atoms carrying an electric charge csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012374 decreased erythrocyte magnesium ion content MP:0012374 decreased quantity in red blood cells of magnesium atoms carrying an electric charge MPD:Molly increased quantity in red blood cells of magnesium atoms carrying an electric charge csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012375 increased erythrocyte magnesium ion content MP:0012375 increased quantity in red blood cells of magnesium atoms carrying an electric charge MPD:Molly abnormal quantity in red blood cells of potassium atoms carrying an electric charge csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012376 abnormal erythrocyte potassium ion content MP:0012376 abnormal quantity in red blood cells of potassium atoms carrying an electric charge MPD:Molly decreased quantity in red blood cells of potassium atoms carrying an electric charge csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012377 decreased erythrocyte potassium ion content MP:0012377 decreased quantity in red blood cells of potassium atoms carrying an electric charge MPD:Molly increased quantity in red blood cells of potassium atoms carrying an electric charge csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012378 increased erythrocyte potassium ion content MP:0012378 increased quantity in red blood cells of potassium atoms carrying an electric charge MPD:Molly abnormal quantity in red blood cells of sodium atoms carrying an electric charge csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012379 abnormal erythrocyte sodium ion content MP:0012379 abnormal quantity in red blood cells of sodium atoms carrying an electric charge MPD:Molly decreased quantity in red blood cells of sodium atoms carrying an electric charge csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012380 decreased erythrocyte sodium ion content MP:0012380 decreased quantity in red blood cells of sodium atoms carrying an electric charge MPD:Molly increased quantity in red blood cells of sodium atoms carrying an electric charge csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012381 increased erythrocyte sodium ion content MP:0012381 increased quantity in red blood cells of sodium atoms carrying an electric charge MPD:Molly aberrant measurable or observable characteristic related to the function of or processes in any of the cells found in the blood csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012382 abnormal blood cell physiology MP:0012382 aberrant measurable or observable characteristic related to the function of or processes in any of the cells found in the blood MPD:Molly true MP:0012383 aberrant measurable or observable characteristic related to the movement in red blood cells of atoms carrying an electric charge csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012384 abnormal erythrocyte ion transport MP:0012384 aberrant measurable or observable characteristic related to the movement in red blood cells of atoms carrying an electric charge MPD:Molly aberrant catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: K+(out) + Cl-(out) = K+(in) + Cl-(in) csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012385 abnormal erythrocyte potassium:chloride symporter activity MP:0012385 aberrant catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: K+(out) + Cl-(out) = K+(in) + Cl-(in) GO:0015379 MPD:Molly decreased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: K+(out) + Cl-(out) = K+(in) + Cl-(in) csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012386 decreased erythrocyte potassium:chloride symporter activity MP:0012386 decreased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: K+(out) + Cl-(out) = K+(in) + Cl-(in) MPD:Molly increased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: K+(out) + Cl-(out) = K+(in) + Cl-(in) csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012387 increased erythrocyte potassium:chloride symporter activity MP:0012387 increased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: K+(out) + Cl-(out) = K+(in) + Cl-(in) MPD:Molly aberrant catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + H+(in) = Na+(in) + H+(out) csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012388 abnormal erythrocyte sodium:hydrogen antiporter activity MP:0012388 aberrant catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + H+(in) = Na+(in) + H+(out) GO:0015385 MPD:Molly decreased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + H+(in) = Na+(in) + H+(out) csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012389 decreased erythrocyte sodium:hydrogen antiporter activity MP:0012389 decreased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + H+(in) = Na+(in) + H+(out) MPD:Molly increased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + H+(in) = Na+(in) + H+(out) csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012390 increased erythrocyte sodium:hydrogen antiporter activity MP:0012390 increased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + H+(in) = Na+(in) + H+(out) MPD:Molly aberrant catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Na+(in) + K+(out) = ADP + phosphate + Na+(out) + K+(in) csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012391 abnormal erythrocyte sodium:potassium-exchanging ATPase activity MP:0012391 aberrant catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Na+(in) + K+(out) = ADP + phosphate + Na+(out) + K+(in) GO:0005391 MPD:Molly decreased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Na+(in) + K+(out) = ADP + phosphate + Na+(out) + K+(in) csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012392 decreased erythrocyte sodium:potassium-exchanging ATPase activity MP:0012392 decreased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Na+(in) + K+(out) = ADP + phosphate + Na+(out) + K+(in) MPD:Molly increased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Na+(in) + K+(out) = ADP + phosphate + Na+(out) + K+(in) csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012393 increased erythrocyte sodium:potassium-exchanging ATPase activity MP:0012393 increased catalysis in red blood cells of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Na+(in) + K+(out) = ADP + phosphate + Na+(out) + K+(in) MPD:Molly aberrant catalysis in red blood cells of the calcium concentration-regulatable energy-independent passage of potassium ions across a lipid bilayer down a concentration gradient csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012394 abnormal erythrocyte calcium-activated potassium channel activity MP:0012394 aberrant catalysis in red blood cells of the calcium concentration-regulatable energy-independent passage of potassium ions across a lipid bilayer down a concentration gradient GO:0015269 MPD:Molly decreased catalysis in red blood cells of the calcium concentration-regulatable energy-independent passage of potassium ions across a lipid bilayer down a concentration gradient csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012395 decreased erythrocyte calcium-activated potassium channel activity MP:0012395 decreased catalysis in red blood cells of the calcium concentration-regulatable energy-independent passage of potassium ions across a lipid bilayer down a concentration gradient MPD:Molly increased catalysis in red blood cells of the calcium concentration-regulatable energy-independent passage of potassium ions across a lipid bilayer down a concentration gradient csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012396 increased erythrocyte calcium-activated potassium channel activity MP:0012396 increased catalysis in red blood cells of the calcium concentration-regulatable energy-independent passage of potassium ions across a lipid bilayer down a concentration gradient MPD:Molly abnormal numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012397 abnormal nucleated erythrocyte cell number MP:0012397 abnormal numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells MPD:Molly decreased numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells csmith 2013-11-26T09:38:45Z MPheno.ontology MP:0012398 decreased nucleated erythrocyte cell number MP:0012398 decreased numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells MPD:Molly decrease in the length of the nails csmith 2013-12-02T19:14:27Z brachyonychia decreased nail length MPheno.ontology MP:0012399 short nails MP:0012399 decrease in the length of the nails https://orcid.org/0000-0003-4606-0597 the presence of misshapen or partially destroyed nail plates, fequently with keratin often accumulating between the dystrophic nail plate and nail bed; often due to trauma or infection csmith 2013-12-02T19:25:26Z MPheno.ontology MP:0012400 nail dystrophy MP:0012400 the presence of misshapen or partially destroyed nail plates, fequently with keratin often accumulating between the dystrophic nail plate and nail bed; often due to trauma or infection https://orcid.org/0000-0003-4606-0597 increased length of the nails csmith 2013-12-02T19:25:50Z increased nail length MPheno.ontology MP:0012401 long nails MP:0012401 increased length of the nails https://orcid.org/0000-0003-4606-0597 any structural anomaly of the dermis and epidermis directly below the nail plate csmith 2013-12-02T19:27:27Z MPheno.ontology MP:0012402 abnormal nail bed morphology MP:0012402 any structural anomaly of the dermis and epidermis directly below the nail plate https://orcid.org/0000-0003-4606-0597 any structural anomally of the hard and translucent portion of the nail, composed of keratin, which serves to protect the tips of digits csmith 2013-12-02T19:28:07Z MPheno.ontology MP:0012403 abnormal nail plate morphology MP:0012403 any structural anomally of the hard and translucent portion of the nail, composed of keratin, which serves to protect the tips of digits GO:0035880 https://orcid.org/0000-0003-4606-0597 a variation in an expected nail color, that may be due to infection, inflammation or other causes csmith 2013-12-02T20:26:13Z abnormal nail colour MPheno.ontology MP:0012404 abnormal nail color MP:0012404 a variation in an expected nail color, that may be due to infection, inflammation or other causes https://orcid.org/0000-0003-4606-0597 any structural anomaly of the nail-forming area of the nail bed comprised of a germinal matrix, responsible for most of the nail production, and the sterile matrix, a secondary site of nail production which is tightly adherent to the nail plate csmith 2013-12-02T20:32:05Z MPheno.ontology MP:0012405 abnormal nail matrix morphology MP:0012405 any structural anomaly of the nail-forming area of the nail bed comprised of a germinal matrix, responsible for most of the nail production, and the sterile matrix, a secondary site of nail production which is tightly adherent to the nail plate https://orcid.org/0000-0003-4606-0597 greater than the expected number of tumors originating in the stomach glandular epithelium in a given population in a given time period csmith 2013-12-03T11:27:19Z increased stomach glandular epithelium tumour incidence MPheno.ontology MP:0012406 increased stomach glandular epithelium tumor incidence MP:0012406 greater than the expected number of tumors originating in the stomach glandular epithelium in a given population in a given time period https://orcid.org/0000-0003-3691-0324 higher than normal incidence of an epithelial tumor in the stomach that secretes an excess of gastrin, occurring in a specific population in a given time period csmith 2013-12-03T11:27:20Z MPheno.ontology MP:0012407 increased gastric gastrinoma incidence MP:0012407 higher than normal incidence of an epithelial tumor in the stomach that secretes an excess of gastrin, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of tumors originating in the duodenal glandular epithelium in a given population in a given time period csmith 2013-12-03T11:27:20Z increased duodenum glandular epithelium tumour incidence MPheno.ontology MP:0012408 increased duodenum glandular epithelium tumor incidence MP:0012408 greater than the expected number of tumors originating in the duodenal glandular epithelium in a given population in a given time period https://orcid.org/0000-0003-3691-0324 higher than normal incidence of an epithelial tumor in the duodenum that secretes an excess of gastrin, occurring in a specific population in a given time period csmith 2013-12-03T11:27:21Z increased duodenum gastrinoma incidence MPheno.ontology MP:0012409 increased duodenal gastrinoma incidence MP:0012409 higher than normal incidence of an epithelial tumor in the duodenum that secretes an excess of gastrin, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 higher than normal incidence of a tumor in the pancreas that secretes an excess of gastrin, occurring in a specific population in a given time period csmith 2013-12-03T11:27:21Z MPheno.ontology MP:0012410 increased pancreatic gastrinoma incidence MP:0012410 higher than normal incidence of a tumor in the pancreas that secretes an excess of gastrin, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplasms derived from somatic cells of the sex cord in the ovary a given population in a given time period csmith 2013-12-03T12:50:41Z increased granulosa cell tumour incidence MPheno.ontology MP:0012411 increased granulosa cell tumor incidence MP:0012411 greater than the expected number of neoplasms derived from somatic cells of the sex cord in the ovary a given population in a given time period https://orcid.org/0000-0001-5208-3432 greater than the expected number of neoplasms derived from reticulum cells in a given population in a given time period; type B neoplasms are tumors of mixed cellularity of reticulum cells, lymphocytes, plasma cells, eosinophils, and neutrophils csmith 2013-12-03T14:33:28Z increased Type B reticulum cell tumour incidence MPheno.ontology MP:0012412 increased Type B reticulum cell tumor incidence MP:0012412 greater than the expected number of neoplasms derived from reticulum cells in a given population in a given time period; type B neoplasms are tumors of mixed cellularity of reticulum cells, lymphocytes, plasma cells, eosinophils, and neutrophils PMID:13233863 PMID:4869134 less than the expected number of tumors originating in muscle tissue in a given population in a given time period csmith 2013-12-04T10:59:28Z decreased muscle tumour incidence MPheno.ontology MP:0012413 decreased muscle tumor incidence MP:0012413 less than the expected number of tumors originating in muscle tissue in a given population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of a malignant tumor derived from skeletal (striated) muscle, occurring in a specific population in a given time period csmith 2013-12-04T11:00:05Z MPheno.ontology MP:0012414 decreased rhabdomyosarcoma incidence MP:0012414 less than the expected number of a malignant tumor derived from skeletal (striated) muscle, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of a connective tissue neoplasm associated with the proliferation of embryonically-derived mesodermal cells, occurring in a specific population in a given time period csmith 2013-12-04T11:00:49Z MPheno.ontology MP:0012415 decreased sarcoma incidence MP:0012415 less than the expected number of a connective tissue neoplasm associated with the proliferation of embryonically-derived mesodermal cells, occurring in a specific population in a given time period DOID:1115 less than the expected number of tumors originating in a gland in a given population in a given time period csmith 2013-12-04T11:44:46Z decreased gland tumour incidence MPheno.ontology MP:0012416 decreased gland tumor incidence MP:0012416 less than the expected number of tumors originating in a gland in a given population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of tumors originating in the reproductive system in a given population in a given time period csmith 2013-12-04T11:44:46Z decreased reproductive system tumour incidence MPheno.ontology MP:0012417 decreased reproductive system tumor incidence MP:0012417 less than the expected number of tumors originating in the reproductive system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of tumors originating in the eye in a given population in a given time period csmith 2013-12-04T11:44:46Z decreased eye tumour incidence MPheno.ontology MP:0012418 decreased eye tumor incidence MP:0012418 less than the expected number of tumors originating in the eye in a given population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of tumors originating in the cardiovascular system in a given population in a given time period csmith 2013-12-04T11:44:46Z decreased cardiovascular system tumour incidence MPheno.ontology MP:0012419 decreased cardiovascular system tumor incidence MP:0012419 less than the expected number of tumors originating in the cardiovascular system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of tumors originating in the hemolymphoid system in a given population in a given time period csmith 2013-12-04T11:44:46Z decreased haemolymphoid system tumour incidence MPheno.ontology MP:0012420 decreased hemolymphoid system tumor incidence MP:0012420 less than the expected number of tumors originating in the hemolymphoid system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of tumors originating in the hepatobiliary system in a given population in a given time period csmith 2013-12-04T11:44:46Z decreased hepatobiliary system tumour incidence MPheno.ontology MP:0012421 decreased hepatobiliary system tumor incidence MP:0012421 less than the expected number of tumors originating in the hepatobiliary system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of tumors originating in the integument system in a given population in a given time period csmith 2013-12-04T11:44:46Z decreased integument system tumour incidence MPheno.ontology MP:0012422 decreased integument system tumor incidence MP:0012422 less than the expected number of tumors originating in the integument system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of tumors originating in the nervous system in a given population in a given time period csmith 2013-12-04T11:44:46Z decreased nervous system tumour incidence MPheno.ontology MP:0012423 decreased nervous system tumor incidence MP:0012423 less than the expected number of tumors originating in the nervous system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of tumors originating in the alimentary system in a given population in a given time period csmith 2013-12-04T11:44:46Z decreased alimentary system tumour incidence MPheno.ontology MP:0012424 decreased alimentary system tumor incidence MP:0012424 less than the expected number of tumors originating in the alimentary system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of tumors originating in the respiratory system in a given population in a given time period csmith 2013-12-04T11:44:46Z decreased respiratory system tumour incidence MPheno.ontology MP:0012425 decreased respiratory system tumor incidence MP:0012425 less than the expected number of tumors originating in the respiratory system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of neoplasms in the skeletal tissue, usually in the form of a distinct mass, in a specific population in a given time period csmith 2013-12-04T11:44:46Z decreased skeletal tumour incidence MPheno.ontology MP:0012426 decreased skeletal tumor incidence MP:0012426 less than the expected number of neoplasms in the skeletal tissue, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of tumors originating in the urinary system in a given population in a given time period csmith 2013-12-04T11:44:46Z decreased urinary system tumour incidence MPheno.ontology MP:0012427 decreased urinary system tumor incidence MP:0012427 less than the expected number of tumors originating in the urinary system in a given population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of neoplasms derived from somatic cells of the sex cord in the ovary a given population in a given time period csmith 2013-12-04T14:55:46Z decreased granulosa cell tumour incidence MPheno.ontology MP:0012428 decreased granulosa cell tumor incidence MP:0012428 less than the expected number of neoplasms derived from somatic cells of the sex cord in the ovary a given population in a given time period https://orcid.org/0000-0001-5208-3432 less than the expected number of neoplasms of the cells usually found in glandular epithelium as a thin layer above the basement membrane but generally beneath the luminal cells, in a given population in a given time period csmith 2013-12-04T15:22:14Z MPheno.ontology MP:0012429 decreased myoepithelioma incidence MP:0012429 less than the expected number of neoplasms of the cells usually found in glandular epithelium as a thin layer above the basement membrane but generally beneath the luminal cells, in a given population in a given time period https://orcid.org/0000-0001-5208-3432 less than the expected number of neoplasms derived from reticulum cells in a given population in a given time period; type B neoplasms are tumors of mixed cellularity of reticulum cells, lymphocytes, plasma cells, eosinophils, and neutrophils csmith 2013-12-04T15:23:18Z decreased Type B reticulum cell tumour incidence MPheno.ontology MP:0012430 decreased Type B reticulum cell tumor incidence MP:0012430 less than the expected number of neoplasms derived from reticulum cells in a given population in a given time period; type B neoplasms are tumors of mixed cellularity of reticulum cells, lymphocytes, plasma cells, eosinophils, and neutrophils PMID:13233863 PMID:4869134 greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period csmith 2013-12-04T15:36:28Z MP:0002022 increased lymphsarcoma incidence MPheno.ontology lymphoid tumor lymphoid tumour MP:0012431 increased lymphoma incidence MP:0012431 greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0003-3691-0324 less than the expected number of neoplams in the prostate gland occurring in a specific population in a given time period csmith 2013-12-04T21:38:44Z decreased prostate gland tumour incidence decreased prostatic tumor incidence decreased prostatic tumour incidence MPheno.ontology MP:0012432 decreased prostate gland tumor incidence MP:0012432 less than the expected number of neoplams in the prostate gland occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of neoplams in the ovary occurring in a specific population in a given time period csmith 2013-12-04T21:40:16Z decreased ovarian tumour incidence MPheno.ontology MP:0012433 decreased ovarian tumor incidence MP:0012433 less than the expected number of neoplams in the ovary occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of a benign epithelial neoplasm with a glandular organization arising in the small and/or large intestine, occurring in a specific population in a given time period csmith 2013-12-04T21:43:49Z MPheno.ontology MP:0012434 decreased intestinal adenoma incidence MP:0012434 less than the expected number of a benign epithelial neoplasm with a glandular organization arising in the small and/or large intestine, occurring in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 less than the expected number of neoplasms in the colon, usually in the form of a distinct mass, in a specific population in a given time period csmith 2013-12-04T21:45:41Z decreased colon tumour incidence MPheno.ontology MP:0012435 decreased colon tumor incidence MP:0012435 less than the expected number of neoplasms in the colon, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplasms in the colon, usually in the form of a distinct mass, in a specific population in a given time period csmith 2013-12-04T21:46:31Z increased colon tumour incidence MPheno.ontology MP:0012436 increased colon tumor incidence MP:0012436 greater than the expected number of neoplasms in the colon, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0003-3691-0324 greater than the expected number of neoplams in the Harderian gland, usually in the form of a distinct mass, in a specific population in a given time period csmith 2013-12-04T21:51:17Z increased Harderian gland tumour incidence MPheno.ontology MP:0012437 increased Harderian gland tumor incidence MP:0012437 greater than the expected number of neoplams in the Harderian gland, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0001-5208-3432 less than the expected number of neoplams in the Harderian gland, usually in the form of a distinct mass, in a specific population in a given time period csmith 2013-12-04T21:51:44Z decreased Harderian gland tumour incidence MPheno.ontology MP:0012438 decreased Harderian gland tumor incidence MP:0012438 less than the expected number of neoplams in the Harderian gland, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0001-5208-3432 less than the expected number of neoplams in the pituitary gland, usually in the form of a distinct mass, in a specific population in a given time period csmith 2013-12-04T22:01:14Z decreased pituitary gland tumour incidence MPheno.ontology MP:0012439 decreased pituitary gland tumor incidence MP:0012439 less than the expected number of neoplams in the pituitary gland, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0001-5208-3432 deviation in the count of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes csmith 2013-12-04T22:06:01Z MPheno.ontology MP:0012440 abnormal neutrophil cell number MP:0012440 deviation in the count of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes CL:0000775 https://orcid.org/0000-0003-3691-0324 any deviation in the count of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood csmith 2013-12-04T22:08:23Z MPheno.ontology MP:0012441 abnormal monocyte cell number MP:0012441 any deviation in the count of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood CL:0000576 https://orcid.org/0000-0003-3691-0324 deviation of the count of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size csmith 2013-12-04T22:12:35Z MPheno.ontology MP:0012442 abnormal basophil cell number MP:0012442 deviation of the count of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size CL:0000767 https://orcid.org/0000-0003-3691-0324 larger thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres csmith 2013-12-04T22:39:39Z MPheno.ontology MP:0012443 increased corpus callosum size MP:0012443 larger thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 decrease in the width of the cytoarchitectural region of the hippocampus consisting of a composite of the two outermost layers of the hippocampus, the Stratum lacunosum-moleculare and the Stratum radiatum csmith 2013-12-04T22:39:39Z thin stratum moleculare MPheno.ontology MP:0012444 thin hippocampus molecular cell layer MP:0012444 decrease in the width of the cytoarchitectural region of the hippocampus consisting of a composite of the two outermost layers of the hippocampus, the Stratum lacunosum-moleculare and the Stratum radiatum UBERON_0005368 decrease in the width of the layer located immediately above the pyramidal cell layer in CA2 and CA1 and superficial to the stratum lucidum in CA3 csmith 2013-12-04T22:39:39Z MPheno.ontology MP:0012445 thin hippocampus stratum radiatum MP:0012445 decrease in the width of the layer located immediately above the pyramidal cell layer in CA2 and CA1 and superficial to the stratum lucidum in CA3 NIFSTD:birnlex_1298 UBERON_0005372 decrease in the width of the layer that is part of the CA fields of the hippocampus consisting of a narrow relatively cell free layer located deep to the pyramidal cell layer extending through areas CA1, CA2 and CA3 csmith 2013-12-04T22:39:39Z MPheno.ontology MP:0012446 thin hippocampus stratum oriens MP:0012446 decrease in the width of the layer that is part of the CA fields of the hippocampus consisting of a narrow relatively cell free layer located deep to the pyramidal cell layer extending through areas CA1, CA2 and CA3 NIFSTD:birnlex_4113 UBERON_0005371 increased thickness of the innermost cortical layer of the cerebellum that contains granule cells csmith 2013-12-04T22:39:39Z increased cerebellar granule layer width thick IGL thick internal granule layer MPheno.ontology MP:0012447 thick cerebellar granule layer MP:0012447 increased thickness of the innermost cortical layer of the cerebellum that contains granule cells ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord; the primary motor cortex, or M1, is located on the precentral gyrus and on the anterior paracentral lobule on the medial surface of the brain csmith 2013-12-04T22:39:39Z motor cortex MPheno.ontology MP:0012448 abnormal primary motor cortex morphology MP:0012448 any structural anomaly of the part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord; the primary motor cortex, or M1, is located on the precentral gyrus and on the anterior paracentral lobule on the medial surface of the brain UBERON:0001384 greater size of the part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord csmith 2013-12-04T22:39:39Z enlarged motor cortex MPheno.ontology MP:0012449 increased primary motor cortex size MP:0012449 greater size of the part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord UBERON:0001384 https://orcid.org/0000-0003-3691-0324 reduced size of the part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord csmith 2013-12-04T22:39:39Z reduced primary motor cortex size MPheno.ontology reduced motor cortex MP:0012450 decreased primary motor cortex size MP:0012450 reduced size of the part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord UBERON:0001384 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the subregion consisting of two divisions of the retrosplenial cotex, retrosplenial granular cortex A(Rga) and retrosplenial granular cortex B (Rgb), which receive dense projections from the hippocampal formation csmith 2013-12-04T22:39:39Z MPheno.ontology MP:0012451 abnormal retrosplenial granular cortex morphology MP:0012451 any structural anomaly of the subregion consisting of two divisions of the retrosplenial cotex, retrosplenial granular cortex A(Rga) and retrosplenial granular cortex B (Rgb), which receive dense projections from the hippocampal formation PMID:1308170 greater size of the subregion consisting of two divisions of the retrosplenial cotex, retrosplenial granular cortex A(Rga) and retrosplenial granular cortex B (Rgb), which receive dense projections from the hippocampal formation csmith 2013-12-04T22:39:39Z enlarged retrosplenial granular cortex MPheno.ontology MP:0012452 increased retrosplenial granular cortex size MP:0012452 greater size of the subregion consisting of two divisions of the retrosplenial cotex, retrosplenial granular cortex A(Rga) and retrosplenial granular cortex B (Rgb), which receive dense projections from the hippocampal formation PMID:1308170 https://orcid.org/0000-0003-3691-0324 reduced size of the subregion consisting of two divisions of the retrosplenial cotex, retrosplenial granular cortex A(Rga) and retrosplenial granular cortex B (Rgb), which receive dense projections from the hippocampal formation csmith 2013-12-04T22:39:39Z reduced retrosplenial granular cortex size MPheno.ontology reduced retrosplenial granular cortex MP:0012453 decreased retrosplenial granular cortex size MP:0012453 reduced size of the subregion consisting of two divisions of the retrosplenial cotex, retrosplenial granular cortex A(Rga) and retrosplenial granular cortex B (Rgb), which receive dense projections from the hippocampal formation PMID:1308170 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the bundle of nerve fibers that projects from the mammillary body in the posterior hypothalamic region to the anterior nucleus of the thalamus csmith 2013-12-04T22:39:39Z abnormal Vicq d'Azyr bundle morphology abnormal mammillo-thalamic tract morphology abnormal mammillothalamic axonal tract morphology abnormal mammillothalamic fasciculus morphology MPheno.ontology MP:0012454 abnormal mammillothalamic tract morphology MP:0012454 any structural anomaly of the bundle of nerve fibers that projects from the mammillary body in the posterior hypothalamic region to the anterior nucleus of the thalamus https://orcid.org/0000-0003-3691-0324 greater size of the bundle of nerve fibers that projects from the mammillary body in the posterior hypothalamic region to the anterior nucleus of the thalamus csmith 2013-12-04T22:39:39Z enlarged mammillothalamic axonal tract increased Vicq d'Azyr bundle size increased mammillothalamic fasciculus size MPheno.ontology enlarged mammillothalamic tract MP:0012455 increased mammillothalamic tract size MP:0012455 greater size of the bundle of nerve fibers that projects from the mammillary body in the posterior hypothalamic region to the anterior nucleus of the thalamus https://orcid.org/0000-0003-3691-0324 reduced size of the bundle of nerve fibers that projects from the mammillary body in the posterior hypothalamic region to the anterior nucleus of the thalamus csmith 2013-12-04T22:39:39Z decreased Vicq d'Azyr bundle size decreased mammillothalamic fasciculus size reduced mammillothalamic axonal tract size reduced mammillothalamic tract reduced mammillothalamic tract size MPheno.ontology MP:0012456 decreased mammillothalamic tract size MP:0012456 reduced size of the bundle of nerve fibers that projects from the mammillary body in the posterior hypothalamic region to the anterior nucleus of the thalamus https://orcid.org/0000-0003-3691-0324 increased length of a multipolar projection neuron in the hippocampus pyramidal cell layer csmith 2013-12-04T22:39:39Z MPheno.ontology MP:0012457 increased hippocampus pyramidal cell length MP:0012457 increased length of a multipolar projection neuron in the hippocampus pyramidal cell layer https://orcid.org/0000-0003-3691-0324 reduced length of a multipolar projection neuron in the hippocampus pyramidal cell layer csmith 2013-12-04T22:39:39Z reduced hippocampus pyramidal cell length MPheno.ontology MP:0012458 decreased hippocampus pyramidal cell length MP:0012458 reduced length of a multipolar projection neuron in the hippocampus pyramidal cell layer https://orcid.org/0000-0003-3691-0324 greater size of one of two interlocking gyri of the hippocampus formation that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus csmith 2013-12-04T22:39:39Z enlarged dentate gyrus MPheno.ontology MP:0012459 increased dentate gyrus size MP:0012459 greater size of one of two interlocking gyri of the hippocampus formation that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus https://orcid.org/0000-0003-3691-0324 reduced size of one of two interlocking gyri of the hippocampus formation that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus csmith 2013-12-04T22:39:39Z reduced dentate gyrus reduced dentate gyrus size MPheno.ontology MP:0012460 decreased dentate gyrus size MP:0012460 reduced size of one of two interlocking gyri of the hippocampus formation that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus https://orcid.org/0000-0003-3691-0324 greater size of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord csmith 2013-12-04T22:39:39Z enlarged brain internal capsule enlarged internal capsule of telencephalon MPheno.ontology MP:0012461 increased brain internal capsule size MP:0012461 greater size of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 reduced size of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord csmith 2013-12-04T22:39:39Z reduced brain internal capsule reduced internal capsule of telencephalon MPheno.ontology reduced brain internal capsule size MP:0012462 decreased brain internal capsule size MP:0012462 reduced size of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 greater size of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region csmith 2013-12-04T22:39:39Z enlarged optic tract MPheno.ontology MP:0012463 increased optic tract size MP:0012463 greater size of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region ISBN:0-683-40008-8 reduced size of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region csmith 2013-12-04T22:39:39Z reduced optic tract reduced optic tract size MPheno.ontology MP:0012464 decreased optic tract size MP:0012464 reduced size of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region ISBN:0-683-40008-8 greater size of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which then thickens to form the fornix and fibers of the hippocampal commissure csmith 2013-12-04T22:39:39Z enlarged hippocampal fimbria MPheno.ontology MP:0012465 increased hippocampal fimbria size MP:0012465 greater size of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which then thickens to form the fornix and fibers of the hippocampal commissure https://orcid.org/0000-0003-3691-0324 reduced size of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which then thickens to form the fornix and fibers of the hippocampal commissure csmith 2013-12-04T22:39:39Z reduced hippocampal fimbria reduced hippocampal fimbria size MPheno.ontology MP:0012466 decreased hippocampal fimbria size MP:0012466 reduced size of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which then thickens to form the fornix and fibers of the hippocampal commissure https://orcid.org/0000-0003-3691-0324 greater size of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking csmith 2013-12-04T22:39:39Z increased striate body size MPheno.ontology MP:0012467 increased striatum size MP:0012467 greater size of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 reduced size of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking csmith 2013-12-04T22:39:39Z reduced striate body size MPheno.ontology MP:0012468 decreased striatum size MP:0012468 reduced size of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking ISBN:0838580343 https://orcid.org/0000-0003-3691-0324 greater size of the bend in the facial nerve at the lateral end of the internal acoustic meatus csmith 2013-12-04T22:39:39Z enlarged genu of the facial nerve size MPheno.ontology MP:0012469 increased genu of the facial nerve size MP:0012469 greater size of the bend in the facial nerve at the lateral end of the internal acoustic meatus UBERON:0014915 https://orcid.org/0000-0003-3691-0324 reduced size of the bend in the facial nerve at the lateral end of the internal acoustic meatus csmith 2013-12-04T22:39:39Z reduced genu of the facial nerve size MPheno.ontology MP:0012470 decreased genu of the facial nerve size MP:0012470 reduced size of the bend in the facial nerve at the lateral end of the internal acoustic meatus UBERON:0014915 https://orcid.org/0000-0003-3691-0324 greater size of the nucelus composed of the globose and emoliform nuclei of the cerebellum; in some mammalian species the globose nucleus is not distinguishable csmith 2013-12-04T22:39:39Z enlarged cerebellum interpositus nucleus enlarged cerebellum interpositus nucleus size MPheno.ontology MP:0012471 increased cerebellum interpositus nucleus size MP:0012471 greater size of the nucelus composed of the globose and emoliform nuclei of the cerebellum; in some mammalian species the globose nucleus is not distinguishable ISBN:0-683-40008-8 reduced size of the nucelus composed of the globose and emoliform nuclei of the cerebellum; in some mammalian species the globose nucleus is not distinguishable csmith 2013-12-04T22:39:39Z reduced cerebellum interpositus nucleus reduced cerebellum interpositus nucleus size small cerebellum interpositus nucleus MPheno.ontology MP:0012472 decreased cerebellum interpositus nucleus size MP:0012472 reduced size of the nucelus composed of the globose and emoliform nuclei of the cerebellum; in some mammalian species the globose nucleus is not distinguishable ISBN:0-683-40008-8 greater size of the thick belt of cortex encircling the corpus callosum that responsible for producing emotional responses to physical sensations of pain and for cognitive control csmith 2013-12-04T22:39:39Z MPheno.ontology enlarged cingulate cortex MP:0012473 increased cingulate cortex size MP:0012473 greater size of the thick belt of cortex encircling the corpus callosum that responsible for producing emotional responses to physical sensations of pain and for cognitive control PMID:21331082 https://orcid.org/0000-0003-3691-0324 reduced size of the thick belt of cortex encircling the corpus callosum that responsible for producing emotional responses to physical sensations of pain and for cognitive control csmith 2013-12-04T22:39:39Z reduced cingulate cortex size MPheno.ontology reduced cingulate cortex MP:0012474 decreased cingulate cortex size MP:0012474 reduced size of the thick belt of cortex encircling the corpus callosum that responsible for producing emotional responses to physical sensations of pain and for cognitive control PMID:21331082 https://orcid.org/0000-0003-3691-0324 increased size of the subdivision of the laminated olfactory cortex with only three main layers that receive monosynaptic input from the olfactory bulb via the lateral olfactory tract csmith 2013-12-04T22:39:39Z enlarged piriform cortex MPheno.ontology MP:0012475 increased piriform cortex size MP:0012475 increased size of the subdivision of the laminated olfactory cortex with only three main layers that receive monosynaptic input from the olfactory bulb via the lateral olfactory tract PMID:17714095 reduced size of the subdivision of the laminated olfactory cortex with only three main layers that receive monosynaptic input from the olfactory bulb via the lateral olfactory tract csmith 2013-12-04T22:39:39Z reduced piriform cortex reduced piriform cortex size MPheno.ontology MP:0012476 decreased piriform cortex size MP:0012476 reduced size of the subdivision of the laminated olfactory cortex with only three main layers that receive monosynaptic input from the olfactory bulb via the lateral olfactory tract PMID:17714095 greater size of the area of the upper bank of the lateral sulcus that is involved in somatic sensation csmith 2013-12-04T22:39:39Z enlarged secondary somatosensory cortex enlarged secondary somatosensory cortex size MPheno.ontology MP:0012477 increased secondary somatosensory cortex size MP:0012477 greater size of the area of the upper bank of the lateral sulcus that is involved in somatic sensation ISBN:0838580343 reduced size of the area of the upper bank of the lateral sulcus that is involved in somatic sensation csmith 2013-12-04T22:39:39Z reduced secondary somatosensory cortex reduced secondary somatosensory cortex size MPheno.ontology MP:0012478 decreased secondary somatosensory cortex size MP:0012478 reduced size of the area of the upper bank of the lateral sulcus that is involved in somatic sensation ISBN:0838580343 greater size of the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe; this area is involved in aggression and fear responses csmith 2013-12-04T22:39:39Z increased amygdaloid area size increased amygdaloid body size increased amygdaloid complex size increased amygdaloid nucleus size MPheno.ontology increased amygdaloid nucleus MP:0012479 increased amygdala size MP:0012479 greater size of the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe; this area is involved in aggression and fear responses ISBN:0-683-40008-8 reduced size of the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe; this area is involved in aggression and fear responses csmith 2013-12-04T22:39:39Z decreased amygdaloid area size decreased amygdaloid body size decreased amygdaloid complex size decreased amygdaloid nucleus size reduced amygdaloid area size reduced amygdaloid body size reduced amygdaloid complex size reduced amygdaloid nucleus size MPheno.ontology decreased amygdaloid nucleus MP:0012480 decreased amygdala size MP:0012480 reduced size of the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe; this area is involved in aggression and fear responses ISBN:0-683-40008-8 greater size of the group of nuclei that makes up the small eminence on the dorsomedial surface of the thalamus, just in front of the dorsal commissure on the lateral edge of the habenular trigone csmith 2013-12-04T22:39:39Z enlarged habenular nucleus MPheno.ontology MP:0012481 increased habenula size MP:0012481 greater size of the group of nuclei that makes up the small eminence on the dorsomedial surface of the thalamus, just in front of the dorsal commissure on the lateral edge of the habenular trigone https://orcid.org/0000-0003-3691-0324 reduced size of the group of nuclei that makes up the small eminence on the dorsomedial surface of the thalamus, just in front of the dorsal commissure on the lateral edge of the habenular trigone csmith 2013-12-04T22:39:39Z decreased habenular nucleus size reduced habenular nucleus reduced habenular nucleus size MPheno.ontology MP:0012482 decreased habenula size MP:0012482 reduced size of the group of nuclei that makes up the small eminence on the dorsomedial surface of the thalamus, just in front of the dorsal commissure on the lateral edge of the habenular trigone https://orcid.org/0000-0003-3691-0324 greater size of the corticospinal fibers that arise from the pyramidal cells within the cerebral cortex layer V of the precentral motor area, the premotor area and the postcentral gyrus, then descend into and through the medulla to form the lateral corticospinal tract and the anterior corticospinal tract csmith 2013-12-04T22:39:39Z enlarged corticospinal tract MPheno.ontology MP:0012483 increased corticospinal tract size MP:0012483 greater size of the corticospinal fibers that arise from the pyramidal cells within the cerebral cortex layer V of the precentral motor area, the premotor area and the postcentral gyrus, then descend into and through the medulla to form the lateral corticospinal tract and the anterior corticospinal tract ISBN:0-683-40008-8 reduced size of the corticospinal fibers that arise from the pyramidal cells within the cerebral cortex layer V of the precentral motor area, the premotor area and the postcentral gyrus, then descend into and through the medulla to form the lateral corticospinal tract and the anterior corticospinal tract csmith 2013-12-04T22:39:39Z reduced corticospinal tract reduced corticospinal tract size MPheno.ontology MP:0012484 decreased corticospinal tract size MP:0012484 reduced size of the corticospinal fibers that arise from the pyramidal cells within the cerebral cortex layer V of the precentral motor area, the premotor area and the postcentral gyrus, then descend into and through the medulla to form the lateral corticospinal tract and the anterior corticospinal tract ISBN:0-683-40008-8 greater size of two paired brainstem nuclei, the dorsal cochlear nucleus and the ventral cochlear nucleus, that lie dorsal and ventral, respectively, to the inferior cerebellar peduncle at the rostral pole of the medulla; the cochlear nuclei receive input from the cochlear nerve and send projections to the inferior colliculus, the medial geniculate, and other forebrain structures csmith 2013-12-04T22:39:39Z enlarged cochlear nucleus size increased cochlear nucleus size MPheno.ontology MP:0012485 increased cochlear VIII nucleus size MP:0012485 greater size of two paired brainstem nuclei, the dorsal cochlear nucleus and the ventral cochlear nucleus, that lie dorsal and ventral, respectively, to the inferior cerebellar peduncle at the rostral pole of the medulla; the cochlear nuclei receive input from the cochlear nerve and send projections to the inferior colliculus, the medial geniculate, and other forebrain structures https://orcid.org/0000-0003-3691-0324 reduced size of two paired brainstem nuclei, the dorsal cochlear nucleus and the ventral cochlear nucleus, that lie dorsal and ventral, respectively, to the inferior cerebellar peduncle at the rostral pole of the medulla; the cochlear nuclei receive input from the cochlear nerve and send projections to the inferior colliculus, the medial geniculate, and other forebrain structures csmith 2013-12-04T22:39:39Z decreased cochlear nucleus size reduced cochlear VIII nucleus size reduced cochlear nucleus size small cochlear VIII nucleus MPheno.ontology MP:0012486 decreased cochlear VIII nucleus size MP:0012486 reduced size of two paired brainstem nuclei, the dorsal cochlear nucleus and the ventral cochlear nucleus, that lie dorsal and ventral, respectively, to the inferior cerebellar peduncle at the rostral pole of the medulla; the cochlear nuclei receive input from the cochlear nerve and send projections to the inferior colliculus, the medial geniculate, and other forebrain structures https://orcid.org/0000-0003-3691-0324 greater size of the largest and most lateral of the deep cerebellum nuclei; it receives axons of Purkinje cells in the lateral cerebellar hemisphere (neocerebellum) and receives its afferents from the premotor cortex and the supplementary motor cortex through the pontocerebellar system, and its efferents project through the superior cerebellar peduncle and is a major source of its fibers csmith 2013-12-04T22:39:39Z enlarged cerebellum dentate nucleus increased cerebellum lateral nucleus size increased corpus dentatum size increased dentate cerebellar nucleus size increased lateral cerebellar nucleus size MPheno.ontology MP:0012487 increased cerebellum dentate nucleus size MP:0012487 greater size of the largest and most lateral of the deep cerebellum nuclei; it receives axons of Purkinje cells in the lateral cerebellar hemisphere (neocerebellum) and receives its afferents from the premotor cortex and the supplementary motor cortex through the pontocerebellar system, and its efferents project through the superior cerebellar peduncle and is a major source of its fibers ISBN:0-683-40008-8 reduced size of the largest and most lateral of the deep cerebellum nuclei; it receives axons of Purkinje cells in the lateral cerebellar hemisphere (neocerebellum) and receives its afferents from the premotor cortex and the supplementary motor cortex through the pontocerebellar system, and its efferents project through the superior cerebellar peduncle and is a major source of its fibers csmith 2013-12-04T22:39:39Z decreased cerebellum lateral nucleus size decreased corpus dentatum size decreased dentate cerebellar nucleus size decreased lateral cerebellar nucleus size reduced cerebellum dentate nucleus reduced cerebellum dentate nucleus size small cerebellum dentate nucleus MPheno.ontology MP:0012488 decreased cerebellum dentate nucleus size MP:0012488 reduced size of the largest and most lateral of the deep cerebellum nuclei; it receives axons of Purkinje cells in the lateral cerebellar hemisphere (neocerebellum) and receives its afferents from the premotor cortex and the supplementary motor cortex through the pontocerebellar system, and its efferents project through the superior cerebellar peduncle and is a major source of its fibers ISBN:0-683-40008-8 any structural anomaly of one of the key brain regions required for cognitive functions, including episodic memory, navigation, imagination and planning for the future; the retrosplenial region can be divided into three parts, the retrosplenial granular cortex A, the retrosplenial granular cortex B and the retrosplenial dysgranular cortex; each subdivision of the retrosplenial cortex projects to a discrete terminal field in the hippocampal formation csmith 2013-12-08T16:26:18Z MPheno.ontology abnormal RSC morphology abnormal retrosplenial cortex morphology MP:0012489 abnormal retrosplenial region morphology MP:0012489 any structural anomaly of one of the key brain regions required for cognitive functions, including episodic memory, navigation, imagination and planning for the future; the retrosplenial region can be divided into three parts, the retrosplenial granular cortex A, the retrosplenial granular cortex B and the retrosplenial dysgranular cortex; each subdivision of the retrosplenial cortex projects to a discrete terminal field in the hippocampal formation PMID:1308170 PMID:19812579 any structural anomaly of two paired brainstem nuclei, the dorsal cochlear nucleus and the ventral cochlear nucleus, that lie dorsal and ventral, respectively, to the inferior cerebellar peduncle at the rostral pole of the medulla; the cochlear nuclei receive input from the cochlear nerve and send projections to the inferior colliculus, the medial geniculate, and other forebrain structures csmith 2013-12-09T13:34:35Z MP:0006333 abnormal cochlear nucleus morphology MPheno.ontology abnormal cochlear nuclei morphology MP:0012490 abnormal cochlear VIII nucleus morphology MP:0012490 any structural anomaly of two paired brainstem nuclei, the dorsal cochlear nucleus and the ventral cochlear nucleus, that lie dorsal and ventral, respectively, to the inferior cerebellar peduncle at the rostral pole of the medulla; the cochlear nuclei receive input from the cochlear nerve and send projections to the inferior colliculus, the medial geniculate, and other forebrain structures https://orcid.org/0000-0003-3691-0324 abnormal narrowing or constriction of the organ of voice production located between the pharynx and the trachea csmith 2013-12-09T15:50:52Z laryngeal stenosis narrow larynx MPheno.ontology MP:0012491 larynx stenosis MP:0012491 abnormal narrowing or constriction of the organ of voice production located between the pharynx and the trachea https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the pharyngeal arch artery, typically resulting in decreased size csmith 2013-12-09T15:55:23Z PAA hypoplasia aortic arches hypoplasia branchial arch artery hypoplasia MPheno.ontology embryonic aortic arch artery hypoplasia MP:0012492 pharyngeal arch artery hypoplasia MP:0012492 decrease in the number of normal cells in normal arrangement in the pharyngeal arch artery, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 absence of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels csmith 2013-12-09T15:55:23Z absent PAA absent aortic arches absent branchial arch arteries absent branchial arch artery absent pharyngeal arch artery MPheno.ontology absent embryonic aortic arch artery MP:0012493 absent pharyngeal arch arteries MP:0012493 absence of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels https://orcid.org/0000-0002-6490-7723 stretched or widened aperture of the luminal space of one or more of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels csmith 2013-12-09T15:55:23Z PAA dilation aortic arch dilation branchial arch artery dilation dilated PAA dilated PAAs dilated aortic arch dilated aortic arches dilated branchial arch arteries dilated branchial arch artery dilated pharyngeal arch arteries pharyngeal arch artery dilation MPheno.ontology dilated embryonic aortic arch arteries dilated embryonic aortic arch artery MP:0012494 dilated pharyngeal arch artery MP:0012494 stretched or widened aperture of the luminal space of one or more of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels https://orcid.org/0000-0002-6490-7723 diffuse constriction or narrowing of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels csmith 2013-12-09T15:55:23Z PAA stenosis aortic arches stenosis branchial arch artery stenosis MPheno.ontology embryonic aortic arch artery stenosis MP:0012495 pharyngeal arch artery stenosis MP:0012495 diffuse constriction or narrowing of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels https://orcid.org/0000-0002-6490-7723 any structural anomaly of the membrane formed by the paired folds that grow out from the lateral part of the body wall; the folds fuse and meet with the dorsal and ventral mesentery of the foregut, separating the pleural cavities from the pericardial cavity csmith 2013-12-10T11:47:00Z abnormal pleuropericardial folds morphology MPheno.ontology MP:0012496 abnormal pleuropericardial membrane morphology MP:0012496 any structural anomaly of the membrane formed by the paired folds that grow out from the lateral part of the body wall; the folds fuse and meet with the dorsal and ventral mesentery of the foregut, separating the pleural cavities from the pericardial cavity UBERON:0006278 https://orcid.org/0000-0003-3691-0324 absence of the membrane formed by the paired folds that grow out from the lateral part of the body wall; the folds fuse and meet with the dorsal and ventral mesentery of the foregut, separating the pleural cavities from the pericardial cavity csmith 2013-12-10T11:47:16Z absent pleuropericardial folds MPheno.ontology MP:0012497 absent pleuropericardial membrane MP:0012497 absence of the membrane formed by the paired folds that grow out from the lateral part of the body wall; the folds fuse and meet with the dorsal and ventral mesentery of the foregut, separating the pleural cavities from the pericardial cavity UBERON:0006278 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube csmith 2013-12-10T13:33:24Z MPheno.ontology MP:0012498 abnormal cardiogenic plate morphology MP:0012498 any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube https://orcid.org/0000-0002-6490-7723 absence of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; normally, angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube csmith 2013-12-10T13:33:24Z MPheno.ontology MP:0012499 absent cardiogenic plate MP:0012499 absence of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; normally, angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube https://orcid.org/0000-0002-6490-7723 any structural anomaly of the cordlike masses of splanchnic mesenchymal cells ventral to the primordial pericardial coelom that arrange themselves side by side to form the primordia of the endocardial heart tubes csmith 2013-12-10T13:33:24Z abnormal angiogenic cell cluster morphology MPheno.ontology MP:0012500 abnormal angioblastic cord morphology MP:0012500 any structural anomaly of the cordlike masses of splanchnic mesenchymal cells ventral to the primordial pericardial coelom that arrange themselves side by side to form the primordia of the endocardial heart tubes https://orcid.org/0000-0002-6490-7723 any structural anomaly of the anatomical body cavity in which the heart lies; the pericardial cavity forms in the lateral plate mesoderm above the buccopharyngeal membrane, as part of the early intraembryonic coelom, and is initially continuous with the two early pleural cavities csmith 2013-12-10T13:33:24Z abnormal cavitas pericardiaca morphology abnormal cavity of pericardial sac abnormal pericardial celom morphology abnormal pericardial coelom morphology abnormal pericardial space morphology MPheno.ontology MP:0012501 abnormal pericardial cavity morphology MP:0012501 any structural anomaly of the anatomical body cavity in which the heart lies; the pericardial cavity forms in the lateral plate mesoderm above the buccopharyngeal membrane, as part of the early intraembryonic coelom, and is initially continuous with the two early pleural cavities https://orcid.org/0000-0002-6490-7723 decrease in the number of cells of the hindbrain undergoing programmed cell death csmith 2014-01-01T11:30:46Z decreased rhombencephalon apoptosis reduced hindbrain apoptosis reduced rhombencephalon apoptosis MPheno.ontology MP:0012502 decreased hindbrain apoptosis MP:0012502 decrease in the number of cells of the hindbrain undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increase in the number of cells of the midbrain undergoing programmed cell death csmith 2014-01-01T11:30:46Z increased mesencephalon apoptosis MPheno.ontology MP:0012503 increased midbrain apoptosis MP:0012503 increase in the number of cells of the midbrain undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increase in the number of cells of the forebrain undergoing programmed cell death csmith 2014-01-01T11:30:46Z increased prosencephalon apoptosis MPheno.ontology MP:0012504 increased forebrain apoptosis MP:0012504 increase in the number of cells of the forebrain undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increase in the number of cells of the neural tube undergoing programmed cell death csmith 2014-01-01T11:30:46Z MPheno.ontology MP:0012505 increased neural tube apoptosis MP:0012505 increase in the number of cells of the neural tube undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of the brain associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes csmith 2014-01-01T11:30:46Z atrophic brain MPheno.ontology MP:0012506 brain atrophy MP:0012506 acquired diminution of the size of the brain associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of the midbrain associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes csmith 2014-01-01T11:30:46Z atrophic mesencephalon atrophic midbrain mesencephalon atrophy MPheno.ontology MP:0012507 midbrain atrophy MP:0012507 acquired diminution of the size of the midbrain associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of the forebrain associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes csmith 2014-01-01T11:30:46Z atrophic forebrain atrophic prosencephalon prosencephalon atrophy MPheno.ontology MP:0012508 forebrain atrophy MP:0012508 acquired diminution of the size of the forebrain associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 a retrogressive impairment of function or destruction of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord) csmith 2014-01-01T13:17:46Z MPheno.ontology MP:0012509 neural tube degeneration MP:0012509 a retrogressive impairment of function or destruction of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord) https://orcid.org/0000-0002-6490-7723 any structural abnormality of the dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates csmith 2014-01-01T13:21:06Z MPheno.ontology MP:0012510 abnormal aortic sac morphology MP:0012510 any structural abnormality of the dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates https://orcid.org/0000-0002-6490-7723 abnormally stretched or widened aperture of the luminal space of the endothelial lined dilation that is located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates csmith 2014-01-01T13:22:33Z aortic sac dilation dilated aortic sacs MPheno.ontology MP:0012511 dilated aortic sac MP:0012511 abnormally stretched or widened aperture of the luminal space of the endothelial lined dilation that is located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates https://orcid.org/0000-0002-6490-7723 any structural anomaly of the middle and longest portion of the sternum, lying between the manubrium superiorly and the xiphoid process inferiorly; the body of the sternum (gladiolus), is considerably lengthier, narrower, and thinner than the manubrium, attaining its greatest breadth close to the lower end csmith 2014-01-01T13:38:31Z abnormal body of sternum abnormal corpus sterni morphology abnormal gladiolus morphology abnormal mesosternum morphology abnormal midsternum morphology abnormal sternal body morphology MPheno.ontology MP:0012512 abnormal sternum body morphology MP:0012512 any structural anomaly of the middle and longest portion of the sternum, lying between the manubrium superiorly and the xiphoid process inferiorly; the body of the sternum (gladiolus), is considerably lengthier, narrower, and thinner than the manubrium, attaining its greatest breadth close to the lower end https://orcid.org/0000-0002-6490-7723 absence of the middle and longest portion of the sternum, lying between the manubrium superiorly and the xiphoid process inferiorly; the body of the sternum (gladiolus) is considerably lengthier, narrower, and thinner than the manubrium, attaining its greatest breadth close to the lower end csmith 2014-01-01T13:40:06Z absent corpus sterni absent gladiolus absent mesosternum absent midsternum absent sternal body MPheno.ontology MP:0012513 absent sternum body MP:0012513 absence of the middle and longest portion of the sternum, lying between the manubrium superiorly and the xiphoid process inferiorly; the body of the sternum (gladiolus) is considerably lengthier, narrower, and thinner than the manubrium, attaining its greatest breadth close to the lower end https://orcid.org/0000-0002-6490-7723 a caved-in or sunken appearance of the anterior chest wall; the congenital deformity can either be present at birth or may not be visible until puberty csmith 2014-01-01T15:01:24Z cobbler's chest funnel chest pectus excavatus sunken chest MPheno.ontology MP:0012514 pectus excavatum MP:0012514 a caved-in or sunken appearance of the anterior chest wall; the congenital deformity can either be present at birth or may not be visible until puberty https://orcid.org/0000-0002-6490-7723 any structural anomaly of the lowest superficial part of the heart, normally directed downward, forward, and to the left, and overlapped by the left lung and pleura; the heart apex is formed by the inferolateral part of the left ventricle and responsible for regulating ventricle contraction csmith 2014-01-01T15:33:11Z abnormal apex cordis morphology abnormal cardiac apex morphology MPheno.ontology MP:0012515 abnormal heart apex morphology MP:0012515 any structural anomaly of the lowest superficial part of the heart, normally directed downward, forward, and to the left, and overlapped by the left lung and pleura; the heart apex is formed by the inferolateral part of the left ventricle and responsible for regulating ventricle contraction https://orcid.org/0000-0002-6490-7723 absence of the anterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain normally composed of the cerebellum and the pons Varolii csmith 2014-01-01T15:53:01Z absent anterior hindbrain absent anterior rhombencephalon absent epencephalon absent rostral hindbrain absent rostral rhombencephalon MPheno.ontology MP:0012516 absent metencephalon MP:0012516 absence of the anterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain normally composed of the cerebellum and the pons Varolii https://orcid.org/0000-0002-6490-7723 absence or loss of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex csmith 2014-01-01T15:56:20Z absent betweenbrain absent interbrain absent thalamencephalon MPheno.ontology MP:0012517 absent diencephalon MP:0012517 absence or loss of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex https://orcid.org/0000-0002-6490-7723 any structural anomaly of the branched acinotubular glands found in the submucosa of the duodenum located above the Sphincter of Oddi; their main function is to produce a mucus-rich alkaline secretion (containing bicarbonate) to protect the duodenum from the acidic content of chyme, provide an alkaline condition for the intestinal enzymes to be active (thus enabling absorption to take place), and lubricate the intestinal walls; they also secrete urogastrone, which inhibits parietal and chief cells of the stomach from secreting acid and their digestive enzymes csmith 2014-01-01T16:43:17Z abnormal duodenal gland morphology abnormal gland of Brunner morphology abnormal glandula duodenales Brunneri morphology abnormal glandula duodenales morphology MPheno.ontology MP:0012518 abnormal Brunner's gland morphology MP:0012518 any structural anomaly of the branched acinotubular glands found in the submucosa of the duodenum located above the Sphincter of Oddi; their main function is to produce a mucus-rich alkaline secretion (containing bicarbonate) to protect the duodenum from the acidic content of chyme, provide an alkaline condition for the intestinal enzymes to be active (thus enabling absorption to take place), and lubricate the intestinal walls; they also secrete urogastrone, which inhibits parietal and chief cells of the stomach from secreting acid and their digestive enzymes https://orcid.org/0000-0002-6490-7723 stretched or widened aperture of the luminal space of one or more of the branched acinotubular glands found in the submucosa of the duodenum located above the Sphincter of Oddi; their main function is to produce a mucus-rich alkaline secretion (containing bicarbonate) to protect the duodenum from the acidic content of chyme, provide an alkaline condition for the intestinal enzymes to be active (thus enabling absorption to take place), and lubricate the intestinal walls; they also secrete urogastrone, which inhibits parietal and chief cells of the stomach from secreting acid and their digestive enzymes csmith 2014-01-01T16:58:33Z Brunner's gland dilation dilated Brunner's glands dilated duodenal gland dilated duodenal glands dilated gland of Brunner dilated glands of Brunner dilated glandula duodenales dilated glandula duodenales Brunneri duodenal gland dilation MPheno.ontology MP:0012519 dilated Brunner's gland MP:0012519 stretched or widened aperture of the luminal space of one or more of the branched acinotubular glands found in the submucosa of the duodenum located above the Sphincter of Oddi; their main function is to produce a mucus-rich alkaline secretion (containing bicarbonate) to protect the duodenum from the acidic content of chyme, provide an alkaline condition for the intestinal enzymes to be active (thus enabling absorption to take place), and lubricate the intestinal walls; they also secrete urogastrone, which inhibits parietal and chief cells of the stomach from secreting acid and their digestive enzymes https://orcid.org/0000-0002-6490-7723 absence of the branched acinotubular glands found in the submucosa of the duodenum located above the Sphincter of Oddi; their main function is to produce a mucus-rich alkaline secretion (containing bicarbonate) to protect the duodenum from the acidic content of chyme, provide an alkaline condition for the intestinal enzymes to be active (thus enabling absorption to take place), and lubricate the intestinal walls; they also secrete urogastrone, which inhibits parietal and chief cells of the stomach from secreting acid and their digestive enzymes csmith 2014-01-01T16:58:33Z absent duodenal glands absent glands of Brunner absent glandula duodenales absent glandula duodenales Brunneri MPheno.ontology MP:0012520 absent Brunner's glands MP:0012520 absence of the branched acinotubular glands found in the submucosa of the duodenum located above the Sphincter of Oddi; their main function is to produce a mucus-rich alkaline secretion (containing bicarbonate) to protect the duodenum from the acidic content of chyme, provide an alkaline condition for the intestinal enzymes to be active (thus enabling absorption to take place), and lubricate the intestinal walls; they also secrete urogastrone, which inhibits parietal and chief cells of the stomach from secreting acid and their digestive enzymes https://orcid.org/0000-0002-6490-7723 any structural anomaly of the thin bilaminar membrane derived from the prechordal plate that is devoid of mesoderm and formed by the apposition of the stomodeal ectoderm with the foregut endoderm; after the embryonic head fold has evolved it lies at the caudal limit of the stomodeum, forming a septum between the primitive mouth and pharynx; the membrane eventually disappears, and thus a communication is established between the mouth and the future pharynx csmith 2014-01-01T17:21:59Z abnormal pharyngeal membrane morphology abnormal oral membrane morphology abnormal oral plate morphology abnormal oropharyngeal membrane morphology abnormal pharyngeal septum morphology MPheno.ontology MP:0012521 abnormal buccopharyngeal membrane morphology MP:0012521 any structural anomaly of the thin bilaminar membrane derived from the prechordal plate that is devoid of mesoderm and formed by the apposition of the stomodeal ectoderm with the foregut endoderm; after the embryonic head fold has evolved it lies at the caudal limit of the stomodeum, forming a septum between the primitive mouth and pharynx; the membrane eventually disappears, and thus a communication is established between the mouth and the future pharynx https://orcid.org/0000-0002-6490-7723 any structural anomaly of the primordial mouth region of the developing head, initially a midline ectodermal depression between the forebrain bulge (cranially) and the heart bulge (caudally) and between the maxillary and mandibular components of the first pharyngeal arch; the stomodeum is separated from the anterior end of the foregut by the buccopharyngeal membrane; the mouth is developed partly from the stomodeum, and partly from the floor of the anterior portion of the foregut; the lips, teeth, and gums are formed from the walls of the stomodeum, but the tongue is developed in the floor of the pharynx csmith 2014-01-01T17:40:29Z abnormal mouth primordium abnormal primitive mouth morphology abnormal primitive oral cavity morphology abnormal stomatodaeum morphology abnormal stomatodeum morphology abnormal stomodaeum morphology MPheno.ontology MP:0012522 abnormal stomodeum morphology MP:0012522 any structural anomaly of the primordial mouth region of the developing head, initially a midline ectodermal depression between the forebrain bulge (cranially) and the heart bulge (caudally) and between the maxillary and mandibular components of the first pharyngeal arch; the stomodeum is separated from the anterior end of the foregut by the buccopharyngeal membrane; the mouth is developed partly from the stomodeum, and partly from the floor of the anterior portion of the foregut; the lips, teeth, and gums are formed from the walls of the stomodeum, but the tongue is developed in the floor of the pharynx UBERON:0000930 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the muscular fold forming the superior border of the mouth csmith 2014-01-01T18:16:00Z abnormal labium superius oris morphology abnormal upper jaw lip morphology MPheno.ontology MP:0012523 abnormal upper lip morphology MP:0012523 any structural anomaly of the muscular fold forming the superior border of the mouth https://orcid.org/0000-0002-6490-7723 any structural anomaly of the muscular fold bounding the opening of the mouth inferiorly csmith 2014-01-01T18:16:00Z abnormal labium inferius oris morphology abnormal lower jaw lip morphology MPheno.ontology MP:0012524 abnormal lower lip morphology MP:0012524 any structural anomaly of the muscular fold bounding the opening of the mouth inferiorly https://orcid.org/0000-0002-6490-7723 any structural anomaly of the posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system csmith 2014-01-01T18:30:26Z MPheno.ontology MP:0012525 abnormal rhombic lip morphology MP:0012525 any structural anomaly of the posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system https://orcid.org/0000-0002-6490-7723 any structural anomaly of the anterior-most region of dorsal hindbrain within rhombomere 1, adjacent the midbrain-hindbrain boundary csmith 2014-01-01T18:31:19Z abnormal cerebellar anlage morphology abnormal presumptive cerebellum morphology abnormal rostral rhombic lip morphology MPheno.ontology MP:0012526 abnormal upper rhombic lip morphology MP:0012526 any structural anomaly of the anterior-most region of dorsal hindbrain within rhombomere 1, adjacent the midbrain-hindbrain boundary https://orcid.org/0000-0002-6490-7723 any structural anomaly of the posterior portion of the rhombic lip contained within rhombomeres 2-8 which gives rise to several brainstem nuclei and the choroid plexus csmith 2014-01-01T18:31:19Z abnormal caudal rhombic lip morphology MPheno.ontology MP:0012527 abnormal lower rhombic lip morphology MP:0012527 any structural anomaly of the posterior portion of the rhombic lip contained within rhombomeres 2-8 which gives rise to several brainstem nuclei and the choroid plexus https://orcid.org/0000-0002-6490-7723 any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the anterio-posterior (A-P) axis csmith 2014-01-01T18:40:59Z abnormal ZPA morphology MPheno.ontology MP:0012528 abnormal zone of polarizing activity morphology MP:0012528 any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the anterio-posterior (A-P) axis https://orcid.org/0000-0002-6490-7723 any structural anomaly of the area of uterine endometrium found between the implanted chorionic vesicle and the myometrium; with continued growth of the embryo, the decidua basalis becomes incorporated into the maternal component of the definitive placenta csmith 2014-01-01T18:51:21Z abnormal basal decidua morphology abnormal decidua placentalis morphology abnormal decidua serotina morphology MPheno.ontology MP:0012529 abnormal decidua basalis morphology MP:0012529 any structural anomaly of the area of uterine endometrium found between the implanted chorionic vesicle and the myometrium; with continued growth of the embryo, the decidua basalis becomes incorporated into the maternal component of the definitive placenta https://orcid.org/0000-0002-6490-7723 any structural anomaly of the layer of uterine endometrium overlying the implanted chorionic vesicle and facing the uterine cavity csmith 2014-01-01T18:57:37Z abnormal capsular decidua morphology abnormal decidua reflexa morphology abnormal membrana adventitia morphology MPheno.ontology MP:0012530 abnormal decidua capsularis morphology MP:0012530 any structural anomaly of the layer of uterine endometrium overlying the implanted chorionic vesicle and facing the uterine cavity https://orcid.org/0000-0002-6490-7723 late onset of the induction and/or differentiation of the limbs csmith 2014-01-01T21:38:31Z retarded limb development MPheno.ontology MP:0012531 delayed limb development MP:0012531 late onset of the induction and/or differentiation of the limbs https://orcid.org/0000-0002-6490-7723 any structural anomaly of the surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm; cells from the surface ectoderm differentiate to form the epidermis; epithelia lining the mouth and nasal cavities; hair follicles and nails; the lacrimal, tarsal, salivary, sebaceous, sweat, and mammary glands, and anterior pituitary gland (adenohypophysis); inner and outer ear structures; the lens, and conjunctival and corneal epithelia; dental enamel; and the apical ectodermal ridge inducing development of the limb buds csmith 2014-01-01T21:44:00Z abnormal external ectoderm morphology MPheno.ontology MP:0012532 abnormal surface ectoderm morphology MP:0012532 any structural anomaly of the surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm; cells from the surface ectoderm differentiate to form the epidermis; epithelia lining the mouth and nasal cavities; hair follicles and nails; the lacrimal, tarsal, salivary, sebaceous, sweat, and mammary glands, and anterior pituitary gland (adenohypophysis); inner and outer ear structures; the lens, and conjunctival and corneal epithelia; dental enamel; and the apical ectodermal ridge inducing development of the limb buds UBERON:0000076 https://orcid.org/0000-0002-6490-7723 congenital defect of the uvea in which some part of the structure is absent csmith 2014-01-01T21:50:18Z coloboma of the uvea uvea coloboma MPheno.ontology MP:0012533 uveal coloboma MP:0012533 congenital defect of the uvea in which some part of the structure is absent https://orcid.org/0000-0002-6490-7723 any structural anomaly of the ventral groove formed by invagination of the optic cup and its stalk by vascular mesenchyme from which the hyaloid vessels develop; a transient gap in the ventral margin of the developing optic cup that eventually closes to complete the eye wall inferiorly and enclose the hyaloid vessels in a canal in the optic stalk csmith 2014-01-01T22:09:42Z abnormal choroid fissure morphology abnormal choroidal fissure morphology abnormal embryonic fissure morphology abnormal fetal fissure morphology abnormal foetal fissure morphology abnormal retinal fissure morphology MPheno.ontology MP:0012534 abnormal optic fissure morphology MP:0012534 any structural anomaly of the ventral groove formed by invagination of the optic cup and its stalk by vascular mesenchyme from which the hyaloid vessels develop; a transient gap in the ventral margin of the developing optic cup that eventually closes to complete the eye wall inferiorly and enclose the hyaloid vessels in a canal in the optic stalk https://orcid.org/0000-0002-6490-7723 failure to initiate and/or complete closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its rim and posteriorly along the optic stalk; failure or late closure of the optic fissure prevents the establishment of normal fetal intraocular pressure and can result in microphthalmia associataed with colobomas csmith 2014-01-01T22:13:04Z abnormal choroid fissure closure abnormal choroidal fissure closure abnormal embryonic fissure closure abnormal fetal fissure closure abnormal foetal fissure closure abnormal retinal fissure closure optic fissure closure defects persistent optic fissure MPheno.ontology MP:0012535 abnormal optic fissure closure MP:0012535 failure to initiate and/or complete closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its rim and posteriorly along the optic stalk; failure or late closure of the optic fissure prevents the establishment of normal fetal intraocular pressure and can result in microphthalmia associataed with colobomas https://orcid.org/0000-0002-6490-7723 late onset of the initiation and/or completion of closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its rim and posteriorly along the optic stalk csmith 2014-01-01T22:14:46Z delayed choroid fissure closure delayed choroidal fissure closure delayed embryonic fissure closure delayed fetal fissure closure delayed foetal fissure closure delayed retinal fissure closure MPheno.ontology MP:0012536 delayed optic fissure closure MP:0012536 late onset of the initiation and/or completion of closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its rim and posteriorly along the optic stalk https://orcid.org/0000-0002-6490-7723 any structural anomaly of the artery which arises from the dorsal ophthalmic artery and enters the eye cup through the optic (choroid) fissure; the hyaloid artery is contained within the optic stalk of the eye, extends from the optic disc through the vitreous humor to the lens, and serves to supply nutrients to the developing lens in the growing fetus; it usually regresses (around 2 weeks after birth in mice and before birth in humans), with its proximal portion remaining as the central artery of the retina; regression of the hyaloid artery leaves a clear central zone through the vitreous humor, called the hyaloid canal or Cloquet's canal csmith 2014-01-02T11:32:58Z abnormal arteria hyaloidea morphology MPheno.ontology MP:0012537 abnormal hyaloid artery morphology MP:0012537 any structural anomaly of the artery which arises from the dorsal ophthalmic artery and enters the eye cup through the optic (choroid) fissure; the hyaloid artery is contained within the optic stalk of the eye, extends from the optic disc through the vitreous humor to the lens, and serves to supply nutrients to the developing lens in the growing fetus; it usually regresses (around 2 weeks after birth in mice and before birth in humans), with its proximal portion remaining as the central artery of the retina; regression of the hyaloid artery leaves a clear central zone through the vitreous humor, called the hyaloid canal or Cloquet's canal https://orcid.org/0000-0002-6490-7723 incomplete regression of the hyaloid artery, usually accompanied by persistence of the hyperplastic primary vitreous; small remnants of the artery may remain with free remnants sometimes seen as floating material (aka muscae volitantes); an anterior remnant of the hyaloid artery can be seen as Mittendorf's dot, a small pinpoint-like scar on the posterior surface of the lens; a posterior remnant may be seen where the artery left the optic disc, and is known as Bergmeister's papilla csmith 2014-01-02T11:32:58Z hyaloid artery remnant persistence of hyaloid artery persistent arteria hyaloidea MPheno.ontology MP:0012538 persistent hyaloid artery MP:0012538 incomplete regression of the hyaloid artery, usually accompanied by persistence of the hyperplastic primary vitreous; small remnants of the artery may remain with free remnants sometimes seen as floating material (aka muscae volitantes); an anterior remnant of the hyaloid artery can be seen as Mittendorf's dot, a small pinpoint-like scar on the posterior surface of the lens; a posterior remnant may be seen where the artery left the optic disc, and is known as Bergmeister's papilla https://orcid.org/0000-0002-6490-7723 a posterior remnant of the fetal hyaloid artery that arises from the center of the optic disc and consists of a small tuft of fibrous tissue csmith 2014-01-02T11:32:58Z epipapillary veil MPheno.ontology MP:0012539 Bergmeister's papilla MP:0012539 a posterior remnant of the fetal hyaloid artery that arises from the center of the optic disc and consists of a small tuft of fibrous tissue https://orcid.org/0000-0002-6490-7723 any structural anomaly of the anterior-most (rostral) portion of the wall of the neural tube, formed by closure of the anterior neuropore; the median strip of the anterior wall of the prosencephalon, which persists in a relatively unchanged state as the cerebral hemispheres grow out forward beyond the original anterior end of the prosencephalon; in the developed brain, the lamina terminalis remains as the thin rostral wall of the third ventricle, stretching from the bases of the major cerebral commissures (the anterior commissure, the commissure of the fornix, and the rostrum of the corpus callosum) to the dorsal surface of the optic chiasm csmith 2014-01-02T12:40:51Z abnormal lamina cinerea morphology abnormal lamina terminalis of cerebrum morphology abnormal terminal plate morphology abnormal velum terminale morphology MPheno.ontology MP:0012540 abnormal lamina terminalis morphology MP:0012540 any structural anomaly of the anterior-most (rostral) portion of the wall of the neural tube, formed by closure of the anterior neuropore; the median strip of the anterior wall of the prosencephalon, which persists in a relatively unchanged state as the cerebral hemispheres grow out forward beyond the original anterior end of the prosencephalon; in the developed brain, the lamina terminalis remains as the thin rostral wall of the third ventricle, stretching from the bases of the major cerebral commissures (the anterior commissure, the commissure of the fornix, and the rostrum of the corpus callosum) to the dorsal surface of the optic chiasm https://orcid.org/0000-0002-6490-7723 absence of the anterior-most (rostral) portion of the wall of the neural tube, formed by closure of the anterior neuropore; agenesis of the lamina terminalis results in anencephaly csmith 2014-01-02T12:43:46Z absent lamina cinerea absent lamina terminalis of cerebrum absent terminal plate absent velum terminale agenesis of lamina terminalis MPheno.ontology MP:0012541 absent lamina terminalis MP:0012541 absence of the anterior-most (rostral) portion of the wall of the neural tube, formed by closure of the anterior neuropore; agenesis of the lamina terminalis results in anencephaly https://orcid.org/0000-0002-6490-7723 any structural anomaly of either the anterior or posterior temporary opening leading from the central canal of the embryonic neural tube to the exterior; the anterior and posterior neuropores connect the lumen of the neural tube with the amniotic cavity csmith 2014-01-02T13:20:22Z MPheno.ontology MP:0012542 abnormal neuropore morphology MP:0012542 any structural anomaly of either the anterior or posterior temporary opening leading from the central canal of the embryonic neural tube to the exterior; the anterior and posterior neuropores connect the lumen of the neural tube with the amniotic cavity https://orcid.org/0000-0002-6490-7723 any structural anomaly of the temporary opening at the extreme rostral (cephalic) end of the early embryonic prosencephalon (forebrain); the anterior neuropore appears before the process of neural tube closure is complete csmith 2014-01-02T13:21:16Z abnormal anterior neuropore morphology abnormal cephalic neuropore morphology abnormal cranial neuropore morphology MPheno.ontology MP:0012543 abnormal rostral neuropore morphology MP:0012543 any structural anomaly of the temporary opening at the extreme rostral (cephalic) end of the early embryonic prosencephalon (forebrain); the anterior neuropore appears before the process of neural tube closure is complete https://orcid.org/0000-0002-6490-7723 any structural anomaly of the temporary opening at the extreme caudal end of the neural tube in early embryos; the posterior neuropore appears before the process of neural tube closure is complete csmith 2014-01-02T13:21:16Z abnormal posterior neuropore morphology MPheno.ontology MP:0012544 abnormal caudal neuropore morphology MP:0012544 any structural anomaly of the temporary opening at the extreme caudal end of the neural tube in early embryos; the posterior neuropore appears before the process of neural tube closure is complete https://orcid.org/0000-0002-6490-7723 a condition whereby a fluid-filled cyst or cavity (syrinx) develops within the spinal cord csmith 2014-01-02T13:28:25Z myelosyringosis spinal cord cyst spinal cord cysts spinal cord syrinx MPheno.ontology MP:0012545 syringomyelia MP:0012545 a condition whereby a fluid-filled cyst or cavity (syrinx) develops within the spinal cord https://orcid.org/0000-0002-6490-7723 a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia csmith 2014-01-02T13:32:03Z MPheno.ontology MP:0012546 triangular face MP:0012546 a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia https://orcid.org/0000-0002-6490-7723 spinal bifida in which a hernial cyst containing meninges (meningocele), spinal cord (myelocele), or both (myelomeningocele) protrudes through a congenital cleft in the vertebral column; the protruding sac is encased in a layer of skin or a fine membrane that readily ruptures, causing leakage of cerebrospinal fluid and an increased risk of meningeal infection csmith 2014-01-02T13:40:20Z spina bifida aperta spina bifida manifesta MPheno.ontology MP:0012547 spina bifida cystica MP:0012547 spinal bifida in which a hernial cyst containing meninges (meningocele), spinal cord (myelocele), or both (myelomeningocele) protrudes through a congenital cleft in the vertebral column; the protruding sac is encased in a layer of skin or a fine membrane that readily ruptures, causing leakage of cerebrospinal fluid and an increased risk of meningeal infection https://orcid.org/0000-0002-6490-7723 hernial protrusion of the spinal cord through an opening or defect in the vertebral column csmith 2014-01-02T13:45:01Z myelocoele MPheno.ontology MP:0012548 myelocele MP:0012548 hernial protrusion of the spinal cord through an opening or defect in the vertebral column https://orcid.org/0000-0002-6490-7723 subnormal arterial oxygen tension; deficient oxygenation of arterial blood csmith 2014-01-02T14:30:49Z decreased blood partial O2 level hypoxaemia MPheno.ontology MP:0012549 hypoxemia MP:0012549 subnormal arterial oxygen tension; deficient oxygenation of arterial blood ISBN:978-0-387-75246-4 acidosis caused by retention of and increased blood concentration of carbon dioxide, often caused by decreased ventilation (hypoventilation); results in decreased blood pH unless kidneys compensate by retaining bicarbonate csmith 2014-01-02T15:27:49Z carbon dioxide acidosis hypercapnic acidosis MPheno.ontology MP:0012550 respiratory acidosis MP:0012550 acidosis caused by retention of and increased blood concentration of carbon dioxide, often caused by decreased ventilation (hypoventilation); results in decreased blood pH unless kidneys compensate by retaining bicarbonate ISBN:0-683-40008-8 decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease csmith 2014-01-02T15:28:08Z MPheno.ontology MP:0012551 metabolic acidosis MP:0012551 decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease ISBN:0-683-40008-8 a form of acidosis in which an accumulation of lactic acid in tissues occurs; causes include tissue hypoxia and drug effects csmith 2014-01-02T15:31:32Z MPheno.ontology MP:0012552 lactic acidosis MP:0012552 a form of acidosis in which an accumulation of lactic acid in tissues occurs; causes include tissue hypoxia and drug effects ISBN:0-683-40008-8 decreased ability of the complement proteins to act sequentially to directly kill microbes, dispose of immune complexes, and regulate other immune processes csmith 2014-01-03T15:57:18Z reduced serum complement activity MPheno.ontology MP:0012553 decreased serum complement activity MP:0012553 decreased ability of the complement proteins to act sequentially to directly kill microbes, dispose of immune complexes, and regulate other immune processes https://orcid.org/0000-0001-5208-3432 increased ability of the complement proteins to act sequentially to directly kill microbes, dispose of immune complexes, and regulate other immune processes csmith 2014-01-03T15:58:26Z MPheno.ontology MP:0012554 increased serum complement activity MP:0012554 increased ability of the complement proteins to act sequentially to directly kill microbes, dispose of immune complexes, and regulate other immune processes https://orcid.org/0000-0001-5208-3432 decreased occurrence of the cessation of function at the cellular level csmith 2014-01-03T16:01:30Z increased cell viability reduced cell death MPheno.ontology MP:0012555 decreased cell death MP:0012555 decreased occurrence of the cessation of function at the cellular level https://orcid.org/0000-0001-5208-3432 increased occurrence of the cessation of function at the cellular level csmith 2014-01-03T16:01:30Z decreased cell viability MPheno.ontology MP:0012556 increased cell death MP:0012556 increased occurrence of the cessation of function at the cellular level https://orcid.org/0000-0001-5208-3432 decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease csmith 2014-01-03T16:18:21Z MPheno.ontology MP:0012557 decreased calcium uptake by cardiac muscle MP:0012557 decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease PMID:22902320 https://orcid.org/0000-0001-5208-3432 increased directed movement of calcium ions into the cardiac muscle; increased mitochondrial calcium ion uptake can trigger programmed necrosis in cardiac muscle csmith 2014-01-03T16:18:54Z MPheno.ontology MP:0012558 increased calcium uptake by cardiac muscle MP:0012558 increased directed movement of calcium ions into the cardiac muscle; increased mitochondrial calcium ion uptake can trigger programmed necrosis in cardiac muscle PMID:22902320 https://orcid.org/0000-0001-5208-3432 decrease from the average range of forebrain volume compared to normal csmith 2014-01-03T16:38:19Z reduced forebrain volume MPheno.ontology MP:0012559 decreased forebrain volume MP:0012559 decrease from the average range of forebrain volume compared to normal https://orcid.org/0000-0001-5208-3432 increase from the average range of forebrain volume compared to normal csmith 2014-01-03T16:39:11Z MPheno.ontology MP:0012560 increased forebrain volume MP:0012560 increase from the average range of forebrain volume compared to normal https://orcid.org/0000-0001-5208-3432 decreased degree of heat natural to the foot pad-environment interface of a living being csmith 2014-01-03T17:14:40Z reduced foot pad temperature MPheno.ontology MP:0012561 decreased foot pad temperature MP:0012561 decreased degree of heat natural to the foot pad-environment interface of a living being https://orcid.org/0000-0001-5208-3432 a retrogressive impairment of function or destruction of the network of tubes that carries blood through the body csmith 2014-01-03T17:18:50Z MPheno.ontology blood vasculature degeneration vascular degeneration MP:0012562 blood vessel degeneration MP:0012562 a retrogressive impairment of function or destruction of the network of tubes that carries blood through the body https://orcid.org/0000-0001-5208-3432 greater than the expected number of neoplasms in a specific population after infection with a pathogen in a given time period, usually of a specific type csmith 2014-01-03T17:25:23Z MPheno.ontology MP:0012563 increased tumor incidence following infection MP:0012563 greater than the expected number of neoplasms in a specific population after infection with a pathogen in a given time period, usually of a specific type https://orcid.org/0000-0001-5208-3432 less than the expected number of neoplasms in a specific population after infection with a pathogen in a given time period, usually of a specific type csmith 2014-01-03T17:26:13Z decreased tumour incidence following infection reduced tumor incidence following infection reduced tumour incidence following infection MPheno.ontology MP:0012564 decreased tumor incidence following infection MP:0012564 less than the expected number of neoplasms in a specific population after infection with a pathogen in a given time period, usually of a specific type https://orcid.org/0000-0001-5208-3432 inflammation of a perivascular sheath surrounding a blood or lymph vessel, and the surrounding tissue csmith 2014-01-03T17:39:02Z MPheno.ontology MP:0012565 perivasculitis MP:0012565 inflammation of a perivascular sheath surrounding a blood or lymph vessel, and the surrounding tissue https://orcid.org/0000-0001-5208-3432 greater likelihood that an organism will develop disease characterized by lymphocytes surrounding the tubuli recti, spermatogenic disturbance and irreversible damage to the seminiferous epithelium csmith 2014-01-03T18:02:03Z reduced susceptibility to experimental autoimmune orchitis MPheno.ontology MP:0012566 decreased susceptibility to experimental autoimmune orchitis MP:0012566 greater likelihood that an organism will develop disease characterized by lymphocytes surrounding the tubuli recti, spermatogenic disturbance and irreversible damage to the seminiferous epithelium PMID:23224596 reduced likelihood that an organism will develop disease characterized by lymphocytes surrounding the tubuli recti, spermatogenic disturbance and irreversible damage to the seminiferous epithelium csmith 2014-01-03T18:03:58Z MPheno.ontology MP:0012567 increased susceptibility to experimental autoimmune orchitis MP:0012567 reduced likelihood that an organism will develop disease characterized by lymphocytes surrounding the tubuli recti, spermatogenic disturbance and irreversible damage to the seminiferous epithelium PMID:23224596 less than the expected number of neoplams in the mammary gland in female organisms that are actively mating and producing offspring csmith 2014-01-03T18:44:03Z decreased mammary gland tumour incidence in breeding females reduced mammary gland tumor incidence in breeding females reduced mammary gland tumour incidence in breeding females MPheno.ontology MP:0012568 decreased mammary gland tumor incidence in breeding females MP:0012568 less than the expected number of neoplams in the mammary gland in female organisms that are actively mating and producing offspring https://orcid.org/0000-0001-5208-3432 less than the expected number of neoplams in the mammary gland in female organisms that have never had sexual intercourse csmith 2014-01-03T18:44:03Z decreased mammary gland tumour incidence in virgin females reduced mammary gland tumor incidence in virgin females reduced mammary gland tumour incidence in virgin females MPheno.ontology MP:0012569 decreased mammary gland tumor incidence in virgin females MP:0012569 less than the expected number of neoplams in the mammary gland in female organisms that have never had sexual intercourse https://orcid.org/0000-0001-5208-3432 greater than the expected number of neoplams in the mammary gland in female organisms that are actively mating and producing offspring csmith 2014-01-03T18:57:36Z increased mammary gland tumour incidence in breeding females MPheno.ontology MP:0012570 increased mammary gland tumor incidence in breeding females MP:0012570 greater than the expected number of neoplams in the mammary gland in female organisms that are actively mating and producing offspring https://orcid.org/0000-0001-5208-3432 greater than the expected number of neoplams in the mammary gland in female organisms that have never had sexual intercourse csmith 2014-01-03T18:57:36Z increased mammary gland tumour incidence in virgin females MPheno.ontology MP:0012571 increased mammary gland tumor incidence in virgin females MP:0012571 greater than the expected number of neoplams in the mammary gland in female organisms that have never had sexual intercourse https://orcid.org/0000-0002-6490-7723 decreased dosage threshold or greater inflammatory response of the skin after topical application of chemical irritants csmith 2014-01-03T19:38:37Z MPheno.ontology MP:0012572 increased susceptibility to chemically induced skin inflammation MP:0012572 decreased dosage threshold or greater inflammatory response of the skin after topical application of chemical irritants https://orcid.org/0000-0001-5208-3432 increased dosage threshold, or reduced or no inflammation of the skin after topical application of chemical irritants csmith 2014-01-03T19:38:37Z reduced susceptility to chemically induced skin inflammation resistance to chemically induced skin inflammation MPheno.ontology MP:0012573 decreased susceptibility to chemically induced skin inflammation MP:0012573 increased dosage threshold, or reduced or no inflammation of the skin after topical application of chemical irritants https://orcid.org/0000-0001-5208-3432 reduced amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine csmith 2014-01-03T20:10:51Z decreased norepinephrine level reduced noradrenaline level reduced norepinephrine level MPheno.ontology MP:0012574 decreased noradrenaline level MP:0012574 reduced amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine ISBN:0198506732 https://orcid.org/0000-0001-5208-3432 greater than normal amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine csmith 2014-01-03T20:10:51Z increased norepinephrine level MPheno.ontology MP:0012575 increased noradrenaline level MP:0012575 greater than normal amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine ISBN:0198506732 https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O in kidney tissue csmith 2014-01-03T20:48:11Z abnormal kidney GSH peroxidase activity MPheno.ontology MP:0012576 abnormal kidney glutathione peroxidase activity MP:0012576 anomaly in the ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O in kidney tissue GO:0004602 https://orcid.org/0000-0001-5208-3432 reduced ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O in kidney tissue csmith 2014-01-03T20:49:45Z decreased kidney GSH peroxidase activity reduced kidney GSH peroxidase activity reduced kidney glutathione peroxidase activity MPheno.ontology MP:0012577 decreased kidney glutathione peroxidase activity MP:0012577 reduced ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O in kidney tissue GO:0004602 https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O in kidney tissue csmith 2014-01-03T20:49:45Z increased kidney GSH peroxidase activity MPheno.ontology MP:0012578 increased kidney glutathione peroxidase activity MP:0012578 increased ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O in kidney tissue GO:0004602 https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O csmith 2014-01-03T21:00:17Z MPheno.ontology MP:0012579 abnormal peroxidase activity MP:0012579 anomaly in the ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O GO:0004601 https://orcid.org/0000-0001-5208-3432 reduced ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O csmith 2014-01-03T21:00:17Z reduced peroxidase activity MPheno.ontology MP:0012580 decreased peroxidase activity MP:0012580 reduced ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O GO:0004601 https://orcid.org/0000-0001-5208-3432 reduced ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O in eosinophils csmith 2014-01-03T21:00:17Z reduced eosinophil peroxidase activity MPheno.ontology MP:0012581 decreased eosinophil peroxidase activity MP:0012581 reduced ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O in eosinophils GO:0004601 https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O csmith 2014-01-03T21:00:17Z MPheno.ontology MP:0012582 increased peroxidase activity MP:0012582 increased ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O GO:0004601 https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O in eosinophils csmith 2014-01-03T21:00:17Z MPheno.ontology MP:0012583 increased eosinophil peroxidase activity MP:0012583 increased ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O in eosinophils GO:0004601 https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol csmith 2014-01-04T06:21:59Z abnormal COMT I activity abnormal COMT II activity abnormal catechol methyltransferase activity abnormal catecholamine O-methyltransferase activity MPheno.ontology MP:0012584 abnormal catechol O-methyltransferase activity MP:0012584 anomaly in the ability to catalyze the reaction: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol GO:0016206 https://orcid.org/0000-0001-5208-3432 reduction in the ability to catalyze the reaction: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol csmith 2014-01-04T06:21:59Z decreased COMT I activity decreased COMT II activity decreased catechol methyltransferase activity decreased catecholamine O-methyltransferase activity reduced COMT I activity reduced COMT II activity reduced catechol methyltransferase activity reduced catecholamine O-methyltransferase activity MPheno.ontology MP:0012585 decreased catechol O-methyltransferase activity MP:0012585 reduction in the ability to catalyze the reaction: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol GO:0016206 https://orcid.org/0000-0001-5208-3432 greater ability to catalyze the reaction: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol csmith 2014-01-04T06:21:59Z increased COMT I activity increased COMT II activity increased catechol methyltransferase activity increased catecholamine O-methyltransferase activity MPheno.ontology MP:0012586 increased catechol O-methyltransferase activity MP:0012586 greater ability to catalyze the reaction: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol GO:0016206 https://orcid.org/0000-0001-5208-3432 reduced ability of brain tissue to catalyze the reaction: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol csmith 2014-01-04T06:21:59Z decreased brain COMT I activity decreased brain COMT II activity decreased brain catechol methyltransferase activity decreased brain catecholamine O-methyltransferase activity reduced brain COMT I activity reduced brain COMT II activity reduced brain catechol methyltransferase activity reduced brain catecholamine O-methyltransferase activity MPheno.ontology MP:0012587 decreased brain catechol O-methyltransferase activity MP:0012587 reduced ability of brain tissue to catalyze the reaction: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol GO:0016206 https://orcid.org/0000-0001-5208-3432 greater ability of brain tissue to catalyze the reaction: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol csmith 2014-01-04T06:21:59Z increased brain COMT I activity increased brain COMT II activity increased brain catechol methyltransferase activity increased brain catecholamine O-methyltransferase activity MPheno.ontology MP:0012588 increased brain catechol O-methyltransferase activity MP:0012588 greater ability of brain tissue to catalyze the reaction: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol GO:0016206 https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA csmith 2014-01-04T06:24:54Z abnormal CHOACTase activity abnormal acetyl-CoA:choline O-acetyltransferase activity abnormal choline acetylase activity abnormal choline acetyltransferase activity MPheno.ontology MP:0012589 abnormal choline O-acetyltransferase activity MP:0012589 anomaly in the ability to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA GO:0004102 https://orcid.org/0000-0001-5208-3432 reduction in the ability to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA csmith 2014-01-04T06:24:54Z decreased CHOACTase activity decreased acetyl-CoA:choline O-acetyltransferase activity decreased choline acetylase activity decreased choline acetyltransferase activity reduced CHOACTase activity reduced acetyl-CoA:choline O-acetyltransferase activity reduced choline acetylase activity MPheno.ontology MP:0012590 decreased choline O-acetyltransferase activity MP:0012590 reduction in the ability to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA GO:0004102 https://orcid.org/0000-0001-5208-3432 greater ability to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA csmith 2014-01-04T06:24:54Z increased CHOACTase activity increased acetyl-CoA:choline O-acetyltransferase activity increased choline acetylase activity increased choline acetyltransferase activity MPheno.ontology MP:0012591 increased choline O-acetyltransferase activity MP:0012591 greater ability to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA GO:0004102 https://orcid.org/0000-0001-5208-3432 reduced ability of the brain to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA csmith 2014-01-04T06:24:54Z decreased brain CHOACTase activity decreased brain acetyl-CoA:choline O-acetyltransferase activity decreased brain choline acetylase activity reduced brain CHOACTase activity reduced brain acetyl-CoA:choline O-acetyltransferase activity reduced brain choline acetylase activity MPheno.ontology MP:0012592 decreased brain choline acetyltransferase activity MP:0012592 reduced ability of the brain to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA GO:0004102 https://orcid.org/0000-0001-5208-3432 greater ability of the brain to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA csmith 2014-01-04T06:24:54Z increased brain CHOACTase activity increased brain acetyl-CoA:choline O-acetyltransferase activity increased brain choline acetylase activity MPheno.ontology MP:0012593 increased brain choline acetyltransferase activity MP:0012593 greater ability of the brain to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA GO:0004102 https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: L-glutamate = 4-aminobutanoate + CO2 csmith 2014-01-04T06:33:49Z abnormal L-aspartate-alpha-decarboxylase activity abnormal L-glutamate 1-carboxy-lyase (4-aminobutanoate-forming) activity abnormal L-glutamate 1-carboxy-lyase activity abnormal L-glutamate alpha-decarboxylase activity abnormal L-glutamic acid decarboxylase activity abnormal L-glutamic decarboxylase activity abnormal aspartic alpha-decarboxylase activity abnormal cysteic acid decarboxylase activity abnormal gamma-glutamate decarboxylase activity MPheno.ontology MP:0012594 abnormal glutamate decarboxylase activity MP:0012594 anomaly in the ability to catalyze the reaction: L-glutamate = 4-aminobutanoate + CO2 GO:0004351 https://orcid.org/0000-0001-5208-3432 reduction in the ability to catalyze the reaction: L-glutamate = 4-aminobutanoate + CO2 csmith 2014-01-04T06:33:49Z decreased L-aspartate-alpha-decarboxylase activity decreased L-glutamate 1-carboxy-lyase (4-aminobutanoate-forming) activity decreased L-glutamate 1-carboxy-lyase activity decreased L-glutamate alpha-decarboxylase activity decreased L-glutamic acid decarboxylase activity decreased L-glutamic decarboxylase activity decreased aspartic alpha-decarboxylase activity decreased cysteic acid decarboxylase activity decreased gamma-glutamate decarboxylase activity reduced L-aspartate-alpha-decarboxylase activity reduced L-glutamate 1-carboxy-lyase (4-aminobutanoate-forming) activity reduced L-glutamate 1-carboxy-lyase activity reduced L-glutamate alpha-decarboxylase activity reduced L-glutamic acid decarboxylase activity reduced L-glutamic decarboxylase activity reduced aspartic alpha-decarboxylase activity reduced cysteic acid decarboxylase activity reduced gamma-glutamate decarboxylase activity MPheno.ontology MP:0012595 decreased glutamate decarboxylase activity MP:0012595 reduction in the ability to catalyze the reaction: L-glutamate = 4-aminobutanoate + CO2 GO:0004351 https://orcid.org/0000-0001-5208-3432 greater ability to catalyze the reaction: L-glutamate = 4-aminobutanoate + CO2 csmith 2014-01-04T06:33:49Z increased L-aspartate-alpha-decarboxylase activity increased L-glutamate 1-carboxy-lyase (4-aminobutanoate-forming) activity increased L-glutamate 1-carboxy-lyase activity increased L-glutamate alpha-decarboxylase activity increased L-glutamic acid decarboxylase activity increased L-glutamic decarboxylase activity increased aspartic alpha-decarboxylase activity increased cysteic acid decarboxylase activity increased gamma-glutamate decarboxylase activity MPheno.ontology MP:0012596 increased glutamate decarboxylase activity MP:0012596 greater ability to catalyze the reaction: L-glutamate = 4-aminobutanoate + CO2 GO:0004351 https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: S-adenosyl-L-methionine(1+) + nicotinamide = 1-methylnicotinamide + S-adenosyl-L-homocysteine csmith 2014-01-04T06:33:49Z abnormal S-adenosyl-L-methionine:nicotinamide N-methyltransferase activity abnormal nicotinamide methyltransferase activity MPheno.ontology MP:0012597 abnormal nicotinamide N-methyltransferase activity MP:0012597 anomaly in the ability to catalyze the reaction: S-adenosyl-L-methionine(1+) + nicotinamide = 1-methylnicotinamide + S-adenosyl-L-homocysteine GO:0008112 https://orcid.org/0000-0001-5208-3432 reduction in the ability to catalyze the reaction: S-adenosyl-L-methionine(1+) + nicotinamide = 1-methylnicotinamide + S-adenosyl-L-homocysteine csmith 2014-01-04T06:33:49Z decreased S-adenosyl-L-methionine:nicotinamide N-methyltransferase activity decreased nicotinamide methyltransferase activity reduced S-adenosyl-L-methionine:nicotinamide N-methyltransferase activity reduced nicotinamide methyltransferase activity MPheno.ontology MP:0012598 decreased nicotinamide N-methyltransferase activity MP:0012598 reduction in the ability to catalyze the reaction: S-adenosyl-L-methionine(1+) + nicotinamide = 1-methylnicotinamide + S-adenosyl-L-homocysteine GO:0008112 https://orcid.org/0000-0001-5208-3432 greater ability to catalyze the reaction: S-adenosyl-L-methionine(1+) + nicotinamide = 1-methylnicotinamide + S-adenosyl-L-homocysteine csmith 2014-01-04T06:33:49Z increased S-adenosyl-L-methionine:nicotinamide N-methyltransferase activity increased nicotinamide methyltransferase activity MPheno.ontology MP:0012599 increased nicotinamide N-methyltransferase activity MP:0012599 greater ability to catalyze the reaction: S-adenosyl-L-methionine(1+) + nicotinamide = 1-methylnicotinamide + S-adenosyl-L-homocysteine GO:0008112 https://orcid.org/0000-0001-5208-3432 any anomaly in the amount of alpha fetoprotein protein csmith 2014-01-04T08:10:22Z abnormal alpha-foetoprotein level MPheno.ontology MP:0012600 abnormal alpha-fetoprotein level MP:0012600 any anomaly in the amount of alpha fetoprotein protein PMID:7545495 less than the expected amount of alpha fetoprotein protein csmith 2014-01-04T08:10:22Z decreased alpha-foetoprotein level reduced alpha-fetoprotein level MPheno.ontology MP:0012601 decreased alpha-fetoprotein level MP:0012601 less than the expected amount of alpha fetoprotein protein PMID:7545495 more than the expected amount of alpha fetoprotein protein csmith 2014-01-04T08:10:22Z elevated alpha-fetoprotein level increased alpha-foetoprotein level MPheno.ontology MP:0012602 increased alpha-fetoprotein level MP:0012602 more than the expected amount of alpha fetoprotein protein PMID:7545495 anomaly in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine csmith 2014-01-04T08:10:51Z abnormal GSH level MPheno.ontology MP:0012603 abnormal glutathione level MP:0012603 anomaly in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine CHEBI:16856 reduction in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine csmith 2014-01-04T08:10:51Z decreased GSH level reduced GSH level reduced glutathione level MPheno.ontology MP:0012604 decreased glutathione level MP:0012604 reduction in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine CHEBI:16856 reduction in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine in the kidney csmith 2014-01-04T08:10:51Z decreased kidney GSH level reduced kidney GSH level reduced kidney glutathione level MPheno.ontology MP:0012605 decreased kidney glutathione level MP:0012605 reduction in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine in the kidney CHEBI:16856 increase in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine csmith 2014-01-04T08:10:51Z increased GSH level MPheno.ontology MP:0012606 increased glutathione level MP:0012606 increase in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine CHEBI:16856 increase in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine in the kidney csmith 2014-01-04T08:10:51Z increased kidney GSH level MPheno.ontology MP:0012607 increased kidney glutathione level MP:0012607 increase in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine in the kidney CHEBI:16856 any anomaly in the amount of complement C5 which is cleaved into 2 fragments, mediates inflammatory processes and forms part of the membrane attack complex csmith 2014-01-04T08:11:47Z abnormal HC level MPheno.ontology MP:0012608 abnormal complement C5 level MP:0012608 any anomaly in the amount of complement C5 which is cleaved into 2 fragments, mediates inflammatory processes and forms part of the membrane attack complex MESH:D12.776.124.486.274.450 decrease in the amount of complement C5 csmith 2014-01-04T08:11:47Z reduced HC level MPheno.ontology MP:0012609 decreased complement C5 level MP:0012609 decrease in the amount of complement C5 https://orcid.org/0000-0003-4606-0597 increase in the amount of complement C5 csmith 2014-01-04T08:11:47Z elevated HC level MPheno.ontology MP:0012610 increased complement C5 level MP:0012610 increase in the amount of complement C5 https://orcid.org/0000-0003-4606-0597 any anomaly in the amount of ceruloplasmin, a ferroxidase enzyme that contains copper atoms in its structure csmith 2014-01-04T11:19:55Z MPheno.ontology MP:0012611 abnormal ceruloplasmin level MP:0012611 any anomaly in the amount of ceruloplasmin, a ferroxidase enzyme that contains copper atoms in its structure https://en.wikipedia.org/wiki/Ceruloplasmin decrease in the amount of ceruloplasmin csmith 2014-01-04T11:19:55Z MPheno.ontology MP:0012612 decreased ceruloplasmin level MP:0012612 decrease in the amount of ceruloplasmin https://orcid.org/0000-0003-4606-0597 increase in the amount of ceruloplasmin csmith 2014-01-04T11:19:55Z MPheno.ontology MP:0012613 increased ceruloplasmin level MP:0012613 increase in the amount of ceruloplasmin https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration in the blood of coagulation factor IX, a member of the peptidase family S1 csmith 2014-01-04T11:21:28Z MPheno.ontology MP:0012614 abnormal circulating factor IX level MP:0012614 any anomaly in the concentration in the blood of coagulation factor IX, a member of the peptidase family S1 https://en.wikipedia.org/wiki/Factor_IX decrease in the concentration in the blood of coagulation factor IX, a member of the peptidase family S1 csmith 2014-01-04T11:21:28Z MPheno.ontology MP:0012615 decreased circulating factor IX level MP:0012615 decrease in the concentration in the blood of coagulation factor IX, a member of the peptidase family S1 https://orcid.org/0000-0003-4606-0597 increase in the concentration in the blood of coagulation factor IX, a member of the peptidase family S1 csmith 2014-01-04T11:21:28Z MPheno.ontology MP:0012616 increased circulating factor IX level MP:0012616 increase in the concentration in the blood of coagulation factor IX, a member of the peptidase family S1 https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration in the blood of coagulation factor X, a serine endopeptidase that is part of the common pathway in the coagulation cascade csmith 2014-01-04T11:21:28Z MPheno.ontology MP:0012617 abnormal circulating factor X level MP:0012617 any anomaly in the concentration in the blood of coagulation factor X, a serine endopeptidase that is part of the common pathway in the coagulation cascade https://en.wikipedia.org/wiki/Factor_X decrease in the concentration in the blood of coagulation factor X csmith 2014-01-04T11:21:28Z MPheno.ontology MP:0012618 decreased circulating factor X level MP:0012618 decrease in the concentration in the blood of coagulation factor X https://orcid.org/0000-0003-4606-0597 increase in the concentration in the blood of coagulation factor X csmith 2014-01-04T11:21:28Z MPheno.ontology MP:0012619 increased circulating factor X level MP:0012619 increase in the concentration in the blood of coagulation factor X https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration in the blood of coagulation factor 13, also known as fibrin stabilizing factor, that when activated cross-links fibrin polymers and solidifies the clot csmith 2014-01-04T11:21:28Z MPheno.ontology MP:0012620 abnormal circulating factor XIII level MP:0012620 any anomaly in the concentration in the blood of coagulation factor 13, also known as fibrin stabilizing factor, that when activated cross-links fibrin polymers and solidifies the clot https://en.wikipedia.org/wiki/Factor_XIII decrease in the concentration in the blood of coagulation factor 13 csmith 2014-01-04T11:21:28Z reduced circulating factor XIII level MPheno.ontology MP:0012621 decreased circulating factor XIII level MP:0012621 decrease in the concentration in the blood of coagulation factor 13 https://orcid.org/0000-0003-4606-0597 increase in the concentration in the blood of coagulation factor 13 csmith 2014-01-04T11:21:28Z elevated circulating factor XIII level MPheno.ontology MP:0012622 increased circulating factor XIII level MP:0012622 increase in the concentration in the blood of coagulation factor 13 https://orcid.org/0000-0003-4606-0597 anomaly in the catalysis of the reaction: acetylcholine + H2O = choline + acetate csmith 2014-01-04T11:40:02Z abnormal acetyl.beta-methylcholinesterase activity abnormal acetylcholine acetylhydrolase activity abnormal acetylcholine hydrolase activity abnormal acetylthiocholinesterase activity abnormal choline esterase I activity abnormal true cholinesterase activity MPheno.ontology MP:0012623 abnormal acetylcholinesterase activity MP:0012623 anomaly in the catalysis of the reaction: acetylcholine + H2O = choline + acetate GO:0003990 decreased rate of the catalysis of the reaction: acetylcholine + H2O = choline + acetate csmith 2014-01-04T11:40:02Z decreased acetyl.beta-methylcholinesterase activity decreased acetylcholine acetylhydrolase activity decreased acetylcholine hydrolase activity decreased acetylthiocholinesterase activity decreased choline esterase I activity decreased true cholinesterase activity MPheno.ontology MP:0012624 decreased acetylcholinesterase activity MP:0012624 decreased rate of the catalysis of the reaction: acetylcholine + H2O = choline + acetate GO:0003990 increased rate of the catalysis of the reaction: acetylcholine + H2O = choline + acetate csmith 2014-01-04T11:40:02Z increased acetyl.beta-methylcholinesterase activity increased acetylcholine acetylhydrolase activity increased acetylcholine hydrolase activity increased acetylthiocholinesterase activity increased choline esterase I activity increased true cholinesterase activity MPheno.ontology MP:0012625 increased acetylcholinesterase activity MP:0012625 increased rate of the catalysis of the reaction: acetylcholine + H2O = choline + acetate GO:0003990 decreased rate of the catalysis of the reaction: acetylcholine + H2O = choline + acetate in the brain csmith 2014-01-04T11:40:02Z MPheno.ontology MP:0012626 decreased brain acetylcholinesterase activity MP:0012626 decreased rate of the catalysis of the reaction: acetylcholine + H2O = choline + acetate in the brain GO:0003990 increased rate of the catalysis of the reaction: acetylcholine + H2O = choline + acetate in the brain csmith 2014-01-04T11:40:02Z MPheno.ontology MP:0012627 increased brain acetylcholinesterase activity MP:0012627 increased rate of the catalysis of the reaction: acetylcholine + H2O = choline + acetate in the brain GO:0003990 any anomaly in the amount of the enzyme that catalyzes the oxidation of glutathione to glutathione disulfide in the presence of NADP+ csmith 2014-01-05T21:49:47Z MPheno.ontology MP:0012628 abnormal glutathione reductase level MP:0012628 any anomaly in the amount of the enzyme that catalyzes the oxidation of glutathione to glutathione disulfide in the presence of NADP+ MESH:D08.811.682.667.092 decrease in the amount of the enzyme that catalyzes the oxidation of glutathione to glutathione disulfide in the presence of NADP+ csmith 2014-01-05T21:49:47Z MPheno.ontology MP:0012629 decreased glutathione reductase level MP:0012629 decrease in the amount of the enzyme that catalyzes the oxidation of glutathione to glutathione disulfide in the presence of NADP+ MESH:D08.811.682.667.092 increase in the amount of the enzyme that catalyzes the oxidation of glutathione to glutathione disulfide in the presence of NADP+ csmith 2014-01-05T21:49:47Z MPheno.ontology MP:0012630 increased glutathione reductase level MP:0012630 increase in the amount of the enzyme that catalyzes the oxidation of glutathione to glutathione disulfide in the presence of NADP+ MESH:D08.811.682.667.092 decrease in the amount of the enzyme that catalyzes the oxidation of glutathione to glutathione disulfide in the presence of NADP+ in the kidney csmith 2014-01-05T21:49:47Z MPheno.ontology MP:0012631 decreased kidney glutathione reductase level MP:0012631 decrease in the amount of the enzyme that catalyzes the oxidation of glutathione to glutathione disulfide in the presence of NADP+ in the kidney MESH:D08.811.682.667.092 increase in the amount of the enzyme that catalyzes the oxidation of glutathione to glutathione disulfide in the presence of NADP+ in the kidney csmith 2014-01-05T21:49:47Z MPheno.ontology MP:0012632 increased kidney glutathione reductase level MP:0012632 increase in the amount of the enzyme that catalyzes the oxidation of glutathione to glutathione disulfide in the presence of NADP+ in the kidney MESH:D08.811.682.667.092 increase in the amount of any of the enzymes that hydrolize the acyl group attached to the two-position of phosphoglycerides csmith 2014-01-05T21:51:05Z MPheno.ontology MP:0012633 increased phospholipase A2 level MP:0012633 increase in the amount of any of the enzymes that hydrolize the acyl group attached to the two-position of phosphoglycerides MESH:D08.811.277.352.100.680.750.937 decrease in the amount of any of the enzymes that hydrolize the acyl group attached to the two-position of phosphoglycerides csmith 2014-01-05T21:51:05Z MPheno.ontology MP:0012634 decreased phospholipase A2 level MP:0012634 decrease in the amount of any of the enzymes that hydrolize the acyl group attached to the two-position of phosphoglycerides MESH:D08.811.277.352.100.680.750.937 anomaly in the ability to catalyze the reaction: RCH2NHR' + H2O + O2 = RCHO + R'NH2 + H2O2; oxygen is used to remove an amine group from a monoamine, requiring FAD as an enzymatic cofactor, and produces aldehyde and ammonia csmith 2014-01-05T21:52:26Z abnormal amine:oxygen oxidoreductase (deaminating) activity MPheno.ontology MP:0012635 abnormal monoamine oxidase activity MP:0012635 anomaly in the ability to catalyze the reaction: RCH2NHR' + H2O + O2 = RCHO + R'NH2 + H2O2; oxygen is used to remove an amine group from a monoamine, requiring FAD as an enzymatic cofactor, and produces aldehyde and ammonia GO:0097621 reduction in the ability to catalyze the reaction: RCH2NHR' + H2O + O2 = RCHO + R'NH2 + H2O2; oxygen is used to remove an amine group from a monoamine, requiring FAD as an enzymatic cofactor, and produces aldehyde and ammonia csmith 2014-01-05T21:52:26Z MPheno.ontology MP:0012636 decreased monoamine oxidase activity MP:0012636 reduction in the ability to catalyze the reaction: RCH2NHR' + H2O + O2 = RCHO + R'NH2 + H2O2; oxygen is used to remove an amine group from a monoamine, requiring FAD as an enzymatic cofactor, and produces aldehyde and ammonia GO:0097621 increase in the ability to catalyze the reaction: RCH2NHR' + H2O + O2 = RCHO + R'NH2 + H2O2; oxygen is used to remove an amine group from a monoamine, requiring FAD as an enzymatic cofactor, and produces aldehyde and ammonia csmith 2014-01-05T21:52:26Z MPheno.ontology MP:0012637 increased monoamine oxidase activity MP:0012637 increase in the ability to catalyze the reaction: RCH2NHR' + H2O + O2 = RCHO + R'NH2 + H2O2; oxygen is used to remove an amine group from a monoamine, requiring FAD as an enzymatic cofactor, and produces aldehyde and ammonia GO:0097621 reduction in the ability to catalyze the reaction: RCH2NHR' + H2O + O2 = RCHO + R'NH2 + H2O2 in the brain; oxygen is used to remove an amine group from a monoamine, requiring FAD as an enzymatic cofactor, and produces aldehyde and ammonia csmith 2014-01-05T21:52:26Z MPheno.ontology MP:0012638 decreased brain monoamine oxidase activity MP:0012638 reduction in the ability to catalyze the reaction: RCH2NHR' + H2O + O2 = RCHO + R'NH2 + H2O2 in the brain; oxygen is used to remove an amine group from a monoamine, requiring FAD as an enzymatic cofactor, and produces aldehyde and ammonia GO:0097621 increase in the ability to catalyze the reaction: RCH2NHR' + H2O + O2 = RCHO + R'NH2 + H2O2 in brain tissue; oxygen is used to remove an amine group from a monoamine, requiring FAD as an enzymatic cofactor, and produces aldehyde and ammonia csmith 2014-01-05T21:52:26Z MPheno.ontology MP:0012639 increased brain monoamine oxidase activity MP:0012639 increase in the ability to catalyze the reaction: RCH2NHR' + H2O + O2 = RCHO + R'NH2 + H2O2 in brain tissue; oxygen is used to remove an amine group from a monoamine, requiring FAD as an enzymatic cofactor, and produces aldehyde and ammonia GO:0097621 anomaly in the ability to catalyze the reaction that adds -OH to a poly aromatic hydrocarbon substrate csmith 2014-01-05T21:52:26Z abnormal BPH activity abnormal benz (alpha) pyrene hydroxylase activity MPheno.ontology MP:0012640 abnormal benzo (alpha) pyrene hydroxylase activity MP:0012640 anomaly in the ability to catalyze the reaction that adds -OH to a poly aromatic hydrocarbon substrate https://doi.org/10.1093/toxsci/55.2.320 reduced ability to catalyze the reaction that adds -OH to a poly aromatic hydrocarbon substrate csmith 2014-01-05T21:52:26Z decreased benz (alpha) pyrene hydroxylase activity reduced BPH activity MPheno.ontology MP:0012641 decreased benzo (alpha) pyrene hydroxylase activity MP:0012641 reduced ability to catalyze the reaction that adds -OH to a poly aromatic hydrocarbon substrate https://doi.org/10.1093/toxsci/55.2.320 greater ability to catalyze the reaction that adds -OH to a poly aromatic hydrocarbon substrate csmith 2014-01-05T21:52:26Z increased BPH activity increased benz (alpha) pyrene hydroxylase activity MPheno.ontology MP:0012642 increased benzo (alpha) pyrene hydroxylase activity MP:0012642 greater ability to catalyze the reaction that adds -OH to a poly aromatic hydrocarbon substrate https://doi.org/10.1093/toxsci/55.2.320 any anomaly in the ability to catalyze the reaction: glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO(2) + CoA csmith 2014-01-05T21:52:26Z abnormal 5-aminolevulinate synthetase activity abnormal 5-aminolevulinic acid synthase activity abnormal 5-aminolevulinic acid synthetase activity abnormal ALA synthase activity abnormal ALA synthetase activity abnormal ALAS activity abnormal alpha-aminolevulinic acid synthase activity abnormal aminolevulinate synthase activity abnormal aminolevulinate synthetase activity abnormal aminolevulinic acid synthase activity abnormal aminolevulinic acid synthetase activity abnormal aminolevulinic synthetase activity abnormal delta-ALA synthetase activity abnormal delta-aminolevulinate synthase activity abnormal delta-aminolevulinate synthetase activity abnormal delta-aminolevulinic acid synthase activity abnormal delta-aminolevulinic acid synthetase activity abnormal delta-aminolevulinic synthetase activity abnormal succinyl-CoA:glycine C-succinyltransferase (decarboxylating) MPheno.ontology MP:0012643 abnormal 5-aminolevulinate synthase activity MP:0012643 any anomaly in the ability to catalyze the reaction: glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO(2) + CoA GO:0003870 reduced ability to catalyze the reaction: glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO(2) + CoA csmith 2014-01-05T21:52:26Z decreased 5-aminolevulinate synthetase activity decreased 5-aminolevulinic acid synthase activity decreased 5-aminolevulinic acid synthetase activity decreased ALA synthase activity decreased ALA synthetase activity decreased ALAS activity decreased alpha-aminolevulinic acid synthase activity decreased aminolevulinate synthase activity decreased aminolevulinate synthetase activity decreased aminolevulinic acid synthase activity decreased aminolevulinic acid synthetase activity decreased aminolevulinic synthetase activity decreased delta-ALA synthetase activity decreased delta-aminolevulinate synthase activity decreased delta-aminolevulinate synthetase activity decreased delta-aminolevulinic acid synthase activity decreased delta-aminolevulinic acid synthetase activity decreased delta-aminolevulinic synthetase activity decreased succinyl-CoA:glycine C-succinyltransferase (decarboxylating) MPheno.ontology MP:0012644 decreased 5-aminolevulinate synthase activity MP:0012644 reduced ability to catalyze the reaction: glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO(2) + CoA GO:0003870 increased ability to catalyze the reaction: glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO(2) + CoA csmith 2014-01-05T21:52:26Z increased 5-aminolevulinate synthetase activity increased 5-aminolevulinic acid synthase activity increased 5-aminolevulinic acid synthetase activity increased ALA synthase activity increased ALA synthetase activity increased ALAS activity increased alpha-aminolevulinic acid synthase activity increased aminolevulinate synthase activity increased aminolevulinate synthetase activity increased aminolevulinic acid synthase activity increased aminolevulinic acid synthetase activity increased aminolevulinic synthetase activity increased delta-ALA synthetase activity increased delta-aminolevulinate synthase activity increased delta-aminolevulinate synthetase activity increased delta-aminolevulinic acid synthase activity increased delta-aminolevulinic acid synthetase activity increased delta-aminolevulinic synthetase activity increased succinyl-CoA:glycine C-succinyltransferase (decarboxylating) MPheno.ontology MP:0012645 increased 5-aminolevulinate synthase activity MP:0012645 increased ability to catalyze the reaction: glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO(2) + CoA GO:0003870 any anomaly in the ability of the serine protease to catalyze the conversion of plasminogen to active plasmin csmith 2014-01-05T21:52:26Z MPheno.ontology MP:0012646 abnormal urokinase activity MP:0012646 any anomaly in the ability of the serine protease to catalyze the conversion of plasminogen to active plasmin https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/urokinase https://www.sigmaaldrich.com/US/en/product/sigma/mak185 reduction in the ability of the serine protease to catalyze the conversion of plasminogen to active plasmin csmith 2014-01-05T21:52:26Z MPheno.ontology MP:0012647 decreased urokinase activity MP:0012647 reduction in the ability of the serine protease to catalyze the conversion of plasminogen to active plasmin https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/urokinase increase in the ability of the serine protease to catalyze the conversion of plasminogen to active plasmin csmith 2014-01-05T21:52:26Z MPheno.ontology MP:0012648 increased urokinase activity MP:0012648 increase in the ability of the serine protease to catalyze the conversion of plasminogen to active plasmin https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/urokinase any anomaly in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen csmith 2014-01-05T21:56:26Z MPheno.ontology MP:0012649 abnormal catalase level MP:0012649 any anomaly in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen MESH:D002374 any anomaly in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in red blood cells csmith 2014-01-05T21:56:26Z abnormal RBC catalase level abnormal red blood cell catalase level MPheno.ontology MP:0012650 abnormal erythrocyte catalase level MP:0012650 any anomaly in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in red blood cells MESH:D002374 any anomaly in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in the kidney csmith 2014-01-05T21:56:26Z MPheno.ontology MP:0012651 abnormal kidney catalase level MP:0012651 any anomaly in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in the kidney MESH:D002374 reduction in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen csmith 2014-01-05T21:56:26Z MPheno.ontology MP:0012652 decreased catalase level MP:0012652 reduction in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen MESH:D002374 reduction in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in red blood cells csmith 2014-01-05T21:56:26Z decreased RBC catalase level decreased red blood cell catalase level reduced RBC catalase level reduced red blood cell catalase level MPheno.ontology MP:0012653 decreased erythrocyte catalase level MP:0012653 reduction in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in red blood cells MESH:D002374 reduction in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in the kidneys csmith 2014-01-05T21:56:26Z MPheno.ontology MP:0012654 decreased kidney catalase level MP:0012654 reduction in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in the kidneys MESH:D002374 increase in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen csmith 2014-01-05T21:56:26Z MPheno.ontology MP:0012655 increased catalase level MP:0012655 increase in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen MESH:D002374 increase in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in red blood cells csmith 2014-01-05T21:56:26Z increased RBC catalase level increased red blood cell catalase level MPheno.ontology MP:0012656 increased erythrocyte catalase level MP:0012656 increase in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in red blood cells MESH:D002374 increase in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in the kidneys csmith 2014-01-05T21:56:26Z MPheno.ontology MP:0012657 increased kidney catalase level MP:0012657 increase in the amount of the oxidoreductase that catalyzes the conversion of hydrogen peroxide to water and oxygen in the kidneys MESH:D002374 any anomaly in the amount of the oxidoreductase that catalyzes the reaction between superoxides and hydrogen to yield molecular oxygen and hydrogen peroxide csmith 2014-01-05T22:01:07Z MPheno.ontology MP:0012658 abnormal superoxide dismutase level MP:0012658 any anomaly in the amount of the oxidoreductase that catalyzes the reaction between superoxides and hydrogen to yield molecular oxygen and hydrogen peroxide MESH:D013482 reduction in the amount of the oxidoreductase that catalyzes the reaction between superoxides and hydrogen to yield molecular oxygen and hydrogen peroxide csmith 2014-01-05T22:01:07Z MPheno.ontology MP:0012659 decreased superoxide dismutase level MP:0012659 reduction in the amount of the oxidoreductase that catalyzes the reaction between superoxides and hydrogen to yield molecular oxygen and hydrogen peroxide MESH:D013482 increase in the amount of the oxidoreductase that catalyzes the reaction between superoxides and hydrogen to yield molecular oxygen and hydrogen peroxide csmith 2014-01-05T22:01:07Z MPheno.ontology MP:0012660 increased superoxide dismutase level MP:0012660 increase in the amount of the oxidoreductase that catalyzes the reaction between superoxides and hydrogen to yield molecular oxygen and hydrogen peroxide MESH:D013482 decreased amount in the blood of any of ceruloplasmin, a ferroxidase enzyme csmith 2014-01-05T22:03:22Z MPheno.ontology MP:0012661 decreased circulating ceruloplasmin level MP:0012661 decreased amount in the blood of any of ceruloplasmin, a ferroxidase enzyme http://en.wikipedia.org/wiki/Ceruloplasmin https://orcid.org/0000-0001-5208-3432 increased amount in the blood of any of ceruloplasmin, a ferroxidase enzyme csmith 2014-01-05T22:03:22Z MPheno.ontology MP:0012662 increased circulating ceruloplasmin level MP:0012662 increased amount in the blood of any of ceruloplasmin, a ferroxidase enzyme http://en.wikipedia.org/wiki/Ceruloplasmin https://orcid.org/0000-0001-5208-3432 decreased amount of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity csmith 2014-01-05T22:03:22Z MPheno.ontology MP:0012663 decreased haptoglobin level MP:0012663 decreased amount of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity http://en.wikipedia.org/wiki/Haptoglobin https://orcid.org/0000-0001-5208-3432 decreased amount in the blood of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity csmith 2014-01-05T22:03:22Z MPheno.ontology MP:0012664 decreased circulating haptoglobin level MP:0012664 decreased amount in the blood of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity http://en.wikipedia.org/wiki/Haptoglobin https://orcid.org/0000-0001-5208-3432 increased amount of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity csmith 2014-01-05T22:03:22Z MPheno.ontology MP:0012665 increased haptoglobin level MP:0012665 increased amount of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity http://en.wikipedia.org/wiki/Haptoglobin https://orcid.org/0000-0001-5208-3432 increased amount in the blood of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity csmith 2014-01-05T22:03:22Z MPheno.ontology MP:0012666 increased circulating haptoglobin level MP:0012666 increased amount in the blood of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity http://en.wikipedia.org/wiki/Haptoglobin https://orcid.org/0000-0001-5208-3432 the appearance of an abnormal division of the cranial most segment of the sternum csmith 2014-01-05T23:27:12Z bifid sternal manubrium bifurcated sternal manubrium fissure of the sternal manubrium MPheno.ontology MP:0012667 split sternal manubrium MP:0012667 the appearance of an abnormal division of the cranial most segment of the sternum https://orcid.org/0000-0002-6490-7723 absence of the cranial most segment of the sternum csmith 2014-01-05T23:27:12Z MPheno.ontology MP:0012668 absent sternal manubrium MP:0012668 absence of the cranial most segment of the sternum https://orcid.org/0000-0002-6490-7723 anomaly or loss of the oscillatory mechanism governed by periodic shifts in gene expression and operating in the presomitic mesoderm that drives the regular periodicity with which somites are formed in the course of vertebrate segmentation. The total number of somites formed and the periodicity with which they are produced are species-specific parameters (e.g. humans have 33 somites with a somitogenesis period of approximately 6 hours while mice have 65 somites with a period of approximately 2 hours) csmith 2014-01-05T23:31:11Z MPheno.ontology MP:0012669 abnormal somite segmentation clock MP:0012669 anomaly or loss of the oscillatory mechanism governed by periodic shifts in gene expression and operating in the presomitic mesoderm that drives the regular periodicity with which somites are formed in the course of vertebrate segmentation. The total number of somites formed and the periodicity with which they are produced are species-specific parameters (e.g. humans have 33 somites with a somitogenesis period of approximately 6 hours while mice have 65 somites with a period of approximately 2 hours) PMID:22274695 http://en.wikipedia.org/wiki/Somitogenesis https://orcid.org/0000-0002-6490-7723 extension of the somite segmentation clock period; may lead to decreased numbers of somites and their resultant vertebrae csmith 2014-01-05T23:33:48Z extended somite segmentation clock period prolonged period of somite formation prolonged somitogenesis period MPheno.ontology MP:0012670 prolonged somite segmentation clock period MP:0012670 extension of the somite segmentation clock period; may lead to decreased numbers of somites and their resultant vertebrae https://orcid.org/0000-0002-6490-7723 the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits csmith 2014-01-09T15:34:36Z white dot syndrome white retinal patches retinal spots MPheno.ontology MP:0012671 retina spots MP:0012671 the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits https://orcid.org/0000-0003-3691-0324 increased size of the tube descending from the larynx and branching into the right and left main bronchi csmith 2014-03-14T10:28:46Z increased trachea size MPheno.ontology MP:0012672 enlarged trachea MP:0012672 increased size of the tube descending from the larynx and branching into the right and left main bronchi https://orcid.org/0000-0003-3691-0324 a neoplastic lesion in which large, thick clusters of abnormal tube-like glands are found in the lining of the colon and rectum; aberrant crypt foci are precursors of colorectal polyps, adenoma and colon cancer csmith 2014-03-14T13:11:00Z ACF MPheno.ontology MP:0012673 aberrant crypt foci MP:0012673 a neoplastic lesion in which large, thick clusters of abnormal tube-like glands are found in the lining of the colon and rectum; aberrant crypt foci are precursors of colorectal polyps, adenoma and colon cancer MGI:acv focal myelin swellings due to redundant folding of myelin sheaths; often sausage-shaped and excessively folded 2014-03-14T13:53:09Z excessive myelin folding myelin outfoldings MPheno.ontology MP:0012674 tomacula MP:0012674 focal myelin swellings due to redundant folding of myelin sheaths; often sausage-shaped and excessively folded https://orcid.org/0000-0003-4606-0597 increased size of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube csmith 2014-03-19T09:26:32Z expanded floor plate increased floor plate size widened floor plate MPheno.ontology MP:0012675 enlarged floor plate MP:0012675 increased size of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube https://orcid.org/0000-0002-6490-7723 the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid csmith 2014-03-19T14:17:54Z brain ventricle dilation brain ventricular dilation cerebral ventricle dilation cerebral ventricular dilation dilated brain ventricles dilated cerebral ventricle dilated cerebral ventricles MPheno.ontology MP:0012676 dilated brain ventricle MP:0012676 the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid https://orcid.org/0000-0002-6490-7723 absence of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord csmith 2014-03-19T14:23:16Z absent cerebral ventricles cerebral ventricular agenesis MPheno.ontology MP:0012677 absent brain ventricles MP:0012677 absence of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord https://orcid.org/0000-0002-6490-7723 absence of the irregularly shaped cavity in the rhombencephalon, normally located between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; the fourth ventricle is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space csmith 2014-03-19T14:24:13Z absent 4th ventricle absent IVth ventricle absent rhombencephalic ventricle absent ventricle of rhombencephalon absent ventriculus quartus MPheno.ontology MP:0012678 absent fourth ventricle MP:0012678 absence of the irregularly shaped cavity in the rhombencephalon, normally located between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; the fourth ventricle is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space https://orcid.org/0000-0002-6490-7723 absence of the narrow cleft located inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina csmith 2014-03-19T14:27:59Z absent 3rd ventricle MPheno.ontology MP:0012679 absent third ventricle MP:0012679 absence of the narrow cleft located inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina https://orcid.org/0000-0002-6490-7723 absence of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; lateral ventricles are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle csmith 2014-03-19T14:29:20Z absent ventricle of cerebral hemisphere absent ventriculus lateralis MPheno.ontology MP:0012680 absent lateral ventricles MP:0012680 absence of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; lateral ventricles are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle https://orcid.org/0000-0002-6490-7723 the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord are severely reduced in volume or area, possibly due to reduced or absent cerebrospinal fluid production; collapsed ventricles can be a sign of increased intracranial pressure and accumulation of water in the brain parenchyma csmith 2014-03-19T14:38:36Z collapsed cerebral ventricles MPheno.ontology MP:0012681 collapsed brain ventricles MP:0012681 the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord are severely reduced in volume or area, possibly due to reduced or absent cerebrospinal fluid production; collapsed ventricles can be a sign of increased intracranial pressure and accumulation of water in the brain parenchyma https://orcid.org/0000-0002-6490-7723 any structural anomaly of the groups of neural nuclei situated in the septal region which have afferent and cholinergic efferent connections with a variety of forebrain and brainstem areas including the hippocampus, the lateral hypothalamus, the tegmentum, and the amygdala csmith 2014-03-19T15:46:27Z abnormal septal nuclear complex morphology abnormal septal nuclei MPheno.ontology MP:0012682 abnormal septal nucleus morphology MP:0012682 any structural anomaly of the groups of neural nuclei situated in the septal region which have afferent and cholinergic efferent connections with a variety of forebrain and brainstem areas including the hippocampus, the lateral hypothalamus, the tegmentum, and the amygdala https://orcid.org/0000-0002-6490-7723 absence of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures csmith 2014-03-19T16:06:53Z atelencephaly MPheno.ontology MP:0012683 absent telencephalon MP:0012683 absence of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures https://orcid.org/0000-0002-6490-7723 atelencephaly PMID:25546391 any structural anomaly of the potential space between the two pleurae (visceral and parietal) of the lungs; the pleural cavity, with its associated pleurae, aids optimal functioning of the lungs during breathing; it normally contains a thin film of serous fluid which lubricates the opposed pleural membranes so that they can glide smoothly against one another during ventilation csmith 2014-03-19T21:58:09Z abnormal intrapleural space morphology abnormal pleural space morphology MPheno.ontology MP:0012684 abnormal pleural cavity morphology MP:0012684 any structural anomaly of the potential space between the two pleurae (visceral and parietal) of the lungs; the pleural cavity, with its associated pleurae, aids optimal functioning of the lungs during breathing; it normally contains a thin film of serous fluid which lubricates the opposed pleural membranes so that they can glide smoothly against one another during ventilation https://orcid.org/0000-0002-6490-7723 any anomaly in the process by which the primitive streak extends anteriorly and elongates towards the distal (cranial) end of the embryo to reach its full length csmith 2014-03-19T22:27:09Z MPheno.ontology MP:0012685 In mouse this is completed by E7.5. abnormal primitive streak elongation MP:0012685 any anomaly in the process by which the primitive streak extends anteriorly and elongates towards the distal (cranial) end of the embryo to reach its full length https://orcid.org/0000-0002-6490-7723 an inside-out appearance of the embryonic neuroepithelium characteristic of defective primary neurulation resulting from failure of neural fold elevation; everted neural folds assume a convex instead of a concave morphology and fail to bend toward each other and fuse at the dorsal midline leading to exencephaly csmith 2014-03-19T22:37:14Z embryonic neuroepithelium eversion everted embryonic neural ectoderm everted embryonic neuroectoderm everted neural folds neural fold eversion MPheno.ontology MP:0012686 everted embryonic neuroepithelium MP:0012686 an inside-out appearance of the embryonic neuroepithelium characteristic of defective primary neurulation resulting from failure of neural fold elevation; everted neural folds assume a convex instead of a concave morphology and fail to bend toward each other and fuse at the dorsal midline leading to exencephaly https://orcid.org/0000-0002-6490-7723 abnormal average weight of both the left and right atria csmith 2014-03-19T22:53:02Z MPheno.ontology MP:0012687 abnormal heart atria weight MP:0012687 abnormal average weight of both the left and right atria MPD:Molly abnormal average weight of both the left and right ventricles together csmith 2014-03-19T22:55:47Z MPheno.ontology MP:0012688 abnormal heart ventricles weight MP:0012688 abnormal average weight of both the left and right ventricles together MPD:Molly abnormal weight of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla csmith 2014-03-19T22:56:56Z MPheno.ontology MP:0012689 abnormal adrenal gland weight MP:0012689 abnormal weight of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla MPD:Molly abnormal average distance between steps csmith 2014-03-19T22:59:05Z MPheno.ontology MP:0012690 abnormal stride length MP:0012690 abnormal average distance between steps MPD:Molly altered ability to metabolize acetaminophen, used as a non-narcotic analgesic, a non-steroidal anti-inflammatory and an anti-pyretic agent csmith 2014-03-20T10:22:37Z abnormal APAP metabolism abnormal Tylenol metabolism abnormal paracetamol metabolism MPheno.ontology MP:0012691 abnormal acetaminophen metabolism MP:0012691 altered ability to metabolize acetaminophen, used as a non-narcotic analgesic, a non-steroidal anti-inflammatory and an anti-pyretic agent GO:1901554 MPD:Molly altered ability to metabolize fluoxetine, an antidepressant of the selective serotonin reuptake inhibitor (SSRI) class which is commonly used to treat various psychiatric disorders csmith 2014-03-20T10:22:37Z abnormal Prozac metabolism MPheno.ontology MP:0012692 abnormal fluoxetine metabolism MP:0012692 altered ability to metabolize fluoxetine, an antidepressant of the selective serotonin reuptake inhibitor (SSRI) class which is commonly used to treat various psychiatric disorders MPD:Molly altered ability to metabolize haloperidol, a butyrophenone-type antipsychotic medication used in the treatment of schizophrenia, acute psychosis, and delirium csmith 2014-03-20T10:22:37Z MPheno.ontology MP:0012693 abnormal haloperidol metabolism MP:0012693 altered ability to metabolize haloperidol, a butyrophenone-type antipsychotic medication used in the treatment of schizophrenia, acute psychosis, and delirium MPD:Molly altered ability to metabolize lithium, commonly used as a mood-stabilizing drug, primarily in the treatment of bipolar disorder in the treatment of both depressive and particularly of mania episodes csmith 2014-03-20T10:22:37Z MPheno.ontology MP:0012694 abnormal lithium metabolism MP:0012694 altered ability to metabolize lithium, commonly used as a mood-stabilizing drug, primarily in the treatment of bipolar disorder in the treatment of both depressive and particularly of mania episodes MPD:Molly altered ability to metabolize nicotine, a potent parasympathomimetic alkaloid that acts as a stimulant in mammals; nicotine activates the mesolimbic pathway in the central nervous system, which regulates feelings of reward and pleasure, and this response is thought to contribute to the addictive nature of nicotine csmith 2014-03-20T10:22:37Z MPheno.ontology MP:0012695 abnormal nicotine metabolism MP:0012695 altered ability to metabolize nicotine, a potent parasympathomimetic alkaloid that acts as a stimulant in mammals; nicotine activates the mesolimbic pathway in the central nervous system, which regulates feelings of reward and pleasure, and this response is thought to contribute to the addictive nature of nicotine MPD:Molly altered ability to metabolize trichloroethylene, a toxic, colorless, photoreactive, chlorinated hydrocarbon liquid, used as an industrial solvent, and was used a anesthetic and as an inhaled obstetrical analgesic csmith 2014-03-20T10:22:37Z abnormal trichloroethylene metabolism MPheno.ontology MP:0012696 abnormal trichloroethene metabolism MP:0012696 altered ability to metabolize trichloroethylene, a toxic, colorless, photoreactive, chlorinated hydrocarbon liquid, used as an industrial solvent, and was used a anesthetic and as an inhaled obstetrical analgesic MPD:Molly anomaly in the expected amount of female body weight gain during pregnancy csmith 2014-03-20T11:21:56Z MPheno.ontology MP:0012697 abnormal maternal body weight gain MP:0012697 anomaly in the expected amount of female body weight gain during pregnancy MPD:Molly greater than the expected amount of female body weight gain during pregnancy csmith 2014-03-20T11:23:17Z MPheno.ontology MP:0012698 increased maternal body weight gain MP:0012698 greater than the expected amount of female body weight gain during pregnancy MPD:Molly reduction in the expected amount of female body weight gain during pregnancy csmith 2014-03-20T11:23:31Z reduced maternal body weight gain MPheno.ontology MP:0012699 decreased maternal body weight gain MP:0012699 reduction in the expected amount of female body weight gain during pregnancy MPD:Molly any structural anomaly of the paired, longitudinal, endothelial-lined channels formed from the cardiogenic mesoderm in embryonic development; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube csmith 2014-03-20T11:36:07Z abnormal embryonic heart tube morphology abnormal endocardial tube morphology abnormal endocardial tubes MPheno.ontology MP:0012700 abnormal endocardial heart tube morphology MP:0012700 any structural anomaly of the paired, longitudinal, endothelial-lined channels formed from the cardiogenic mesoderm in embryonic development; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube https://orcid.org/0000-0002-6490-7723 increase in the number of cells of the embryonic neuroepithelium undergoing programmed cell death csmith 2014-03-20T11:59:04Z increased embryonic neural ectoderm apoptosis increased embryonic neuroectoderm apoptosis increased neural tube neuroepithelium apoptosis MPheno.ontology MP:0012701 increased embryonic neuroepithelium apoptosis MP:0012701 increase in the number of cells of the embryonic neuroepithelium undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increased width of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells csmith 2014-03-20T12:25:34Z increased embryonic neural ectoderm width increased embryonic neuroectoderm width increased embryonic neuroepithelium width increased neural tube neuroepithelium width thickened embryonic neural ectoderm thickened embryonic neuroectoderm thickened embryonic neuroepithelium thickened neural tube neuroepithelium MPheno.ontology MP:0012702 increased embryonic neuroepithelium thickness MP:0012702 increased width of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells https://orcid.org/0000-0002-6490-7723 reduced width of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells csmith 2014-03-20T12:25:45Z decreased embryonic neural ectoderm width decreased embryonic neuroectoderm width decreased embryonic neuroepithelium width decreased neural tube neuroepithelium width reduced embryonic neural ectoderm width reduced embryonic neuroectoderm width reduced embryonic neuroepithelium thickness reduced embryonic neuroepithelium width reduced neural tube neuroepithelium width thinned embryonic neural ectoderm thinned embryonic neuroectoderm thinned embryonic neuroepithelium thinned neural tube neuroepithelium MPheno.ontology MP:0012703 decreased embryonic neuroepithelium thickness MP:0012703 reduced width of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells https://orcid.org/0000-0002-6490-7723 any anomaly in the ability of the cells of the embryonic neuroepithelium to undergo expansion by cell division csmith 2014-03-20T12:49:46Z abnormal embryonic neural ectoderm proliferation abnormal embryonic neuroectoderm proliferation abnormal embryonic neuroepithelium proliferation abnormal neural tube neuroepithelium proliferation abnormal neurecto-epithelial cell proliferation MPheno.ontology MP:0012704 abnormal embryonic neuroepithelial cell proliferation MP:0012704 any anomaly in the ability of the cells of the embryonic neuroepithelium to undergo expansion by cell division CL:0000710 https://orcid.org/0000-0002-6490-7723 increase in the expansion rate of the cells of the embryonic neuroepithelium by cell division csmith 2014-03-20T12:51:28Z increased embryonic neural ectoderm proliferation increased embryonic neuroectoderm proliferation increased embryonic neuroepithelium proliferation increased neural tube neuroepithelium proliferation increased neurecto-epithelial cell proliferation MPheno.ontology MP:0012705 increased embryonic neuroepithelial cell proliferation MP:0012705 increase in the expansion rate of the cells of the embryonic neuroepithelium by cell division CL:0000710 https://orcid.org/0000-0002-6490-7723 decrease in the expansion rate of the cells of the embryonic neuroepithelium by cell division csmith 2014-03-20T12:51:49Z decreased embryonic neural ectoderm proliferation decreased embryonic neuroectoderm proliferation decreased embryonic neuroepithelium proliferation decreased neural tube neuroepithelium proliferation decreased neurecto-epithelial cell proliferation reduced embryonic neural ectoderm proliferation reduced embryonic neuroectoderm proliferation reduced embryonic neuroepithelium proliferation reduced neural tube neuroepithelium proliferation reduced neurecto-epithelial cell proliferation MPheno.ontology MP:0012706 decreased embryonic neuroepithelial cell proliferation MP:0012706 decrease in the expansion rate of the cells of the embryonic neuroepithelium by cell division CL:0000710 https://orcid.org/0000-0002-6490-7723 incomplete joining together of the neural folds of the caudal opening of the neural tube; failure of caudal neuropore closure results in spina bifida, the severity of which depends on how much of the spinal cord remains exposed csmith 2014-03-20T13:40:36Z incomplete caudal neural tube closure incomplete posterior neural tube closure incomplete posterior neuropore closure open caudal neuropore open posterior neuropore MPheno.ontology incomplete spinal neural tube closure MP:0012707 incomplete caudal neuropore closure MP:0012707 incomplete joining together of the neural folds of the caudal opening of the neural tube; failure of caudal neuropore closure results in spina bifida, the severity of which depends on how much of the spinal cord remains exposed https://orcid.org/0000-0002-6490-7723 a delay in the fusion of the cephalic neural folds csmith 2014-03-20T13:45:55Z delayed anterior cephalic closure delayed anterior neural tube closure delayed cephalic closure delayed cranial neural fold fusion delayed head fold fusion delayed headfold fusion delayed rostral neural tube closure MPheno.ontology MP:0012708 delayed rostral neuropore closure MP:0012708 a delay in the fusion of the cephalic neural folds https://orcid.org/0000-0002-6490-7723 a delay in the joining together of the neural folds of the caudal opening of the neural tube csmith 2014-03-20T13:48:29Z delayed posterior neuropore closure MPheno.ontology MP:0012709 delayed caudal neuropore closure MP:0012709 a delay in the joining together of the neural folds of the caudal opening of the neural tube https://orcid.org/0000-0002-6490-7723 a rare congenital anomaly that results in the splitting of the spinal cord in a longitudinal direction, usually at the level of the upper lumbar vertebra; this condition occurs in the presence of an osseous (bone), cartilaginous or fibrous septum in the central portion of the spinal canal which then produces a complete or incomplete sagittal division of the spinal cord into two hemicords, each half being surrounded by a dural sac; when the split does not reunite distally to the spur, the condition is referred to as a diplomyelia csmith 2014-03-20T14:10:17Z diastomyelia MPheno.ontology MP:0012710 diastematomyelia MP:0012710 a rare congenital anomaly that results in the splitting of the spinal cord in a longitudinal direction, usually at the level of the upper lumbar vertebra; this condition occurs in the presence of an osseous (bone), cartilaginous or fibrous septum in the central portion of the spinal canal which then produces a complete or incomplete sagittal division of the spinal cord into two hemicords, each half being surrounded by a dural sac; when the split does not reunite distally to the spur, the condition is referred to as a diplomyelia https://orcid.org/0000-0002-6490-7723 true duplication of the spinal cord; each cord has two dorsal and two ventral horns and paired nerve roots, but the two cords are contained within a single dural sac csmith 2014-03-20T14:15:23Z MPheno.ontology MP:0012711 diplomyelia MP:0012711 true duplication of the spinal cord; each cord has two dorsal and two ventral horns and paired nerve roots, but the two cords are contained within a single dural sac https://orcid.org/0000-0002-6490-7723 a retrogressive impairment of function or destruction of the spinal cord csmith 2014-03-20T14:18:42Z MPheno.ontology MP:0012712 spinal cord degeneration MP:0012712 a retrogressive impairment of function or destruction of the spinal cord https://orcid.org/0000-0002-6490-7723 any structural anomaly of the morphologically distinct group of ectodermal cells that serves as an important signaling center in the mouse tail-bud following completion of gastrulation, and contains progenitor cells that contribute to the ventral midline ectoderm of the tail; ablation of the VER leads to defects in somitogenesis and tail elongation csmith 2014-03-20T14:34:50Z abnormal VER morphology MPheno.ontology MP:0012713 abnormal ventral ectodermal ridge morphology MP:0012713 any structural anomaly of the morphologically distinct group of ectodermal cells that serves as an important signaling center in the mouse tail-bud following completion of gastrulation, and contains progenitor cells that contribute to the ventral midline ectoderm of the tail; ablation of the VER leads to defects in somitogenesis and tail elongation https://orcid.org/0000-0002-6490-7723 reduced size of the morphologically distinct group of ectodermal cells that serves as an important signaling center in the mouse tail-bud following completion of gastrulation, and contains progenitor cells that contribute to the ventral midline ectoderm of the tail csmith 2014-03-20T14:35:19Z decreased VER size reduced VER size reduced ventral ectodermal ridge size MPheno.ontology MP:0012714 decreased ventral ectodermal ridge size MP:0012714 reduced size of the morphologically distinct group of ectodermal cells that serves as an important signaling center in the mouse tail-bud following completion of gastrulation, and contains progenitor cells that contribute to the ventral midline ectoderm of the tail https://orcid.org/0000-0002-6490-7723 any structural anomaly of the pluripotent precursor cell in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands csmith 2014-03-20T14:42:10Z abnormal haemangioblast morphology MPheno.ontology MP:0012715 abnormal hemangioblast morphology MP:0012715 any structural anomaly of the pluripotent precursor cell in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands CL:0002418 https://orcid.org/0000-0002-6490-7723 deviation from the normal numbers of pluripotent precursor cells in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands csmith 2014-03-20T14:44:33Z abnormal haemangioblast number MPheno.ontology MP:0012716 abnormal hemangioblast number MP:0012716 deviation from the normal numbers of pluripotent precursor cells in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands CL:0002418 https://orcid.org/0000-0002-6490-7723 increased number of the pluripotent precursor cells in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands csmith 2014-03-20T14:44:33Z increased haemangioblast number MPheno.ontology MP:0012717 increased hemangioblast number MP:0012717 increased number of the pluripotent precursor cells in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands CL:0002418 https://orcid.org/0000-0002-6490-7723 reduced number of the pluripotent precursor cells in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands csmith 2014-03-20T14:44:33Z decreased haemangioblast number reduced haemangioblast number reduced hemangioblast number MPheno.ontology MP:0012718 decreased hemangioblast number MP:0012718 reduced number of the pluripotent precursor cells in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands CL:0002418 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the part of body by which the head is connected to the trunk extending from the base of the cranium to the top of the shoulders csmith 2014-03-20T14:53:00Z MPheno.ontology MP:0012719 abnormal neck morphology MP:0012719 any structural anomaly of the part of body by which the head is connected to the trunk extending from the base of the cranium to the top of the shoulders https://orcid.org/0000-0002-6490-7723 increased length of the neck csmith 2014-03-20T15:02:28Z extended neck region increased neck length MPheno.ontology MP:0012720 elongated neck MP:0012720 increased length of the neck https://orcid.org/0000-0002-6490-7723 decreased length of the neck csmith 2014-03-20T15:02:28Z decreased neck length MPheno.ontology MP:0012721 short neck MP:0012721 decreased length of the neck https://orcid.org/0000-0002-6490-7723 absence of the part of body by which the head is connected to the trunk extending from the base of the cranium to the top of the shoulders csmith 2014-03-20T15:02:28Z MPheno.ontology MP:0012722 absent neck MP:0012722 absence of the part of body by which the head is connected to the trunk extending from the base of the cranium to the top of the shoulders https://orcid.org/0000-0002-6490-7723 any structural anomaly of the posterior region of the neck, including the suboccipital region csmith 2014-03-20T15:02:28Z abnormal posterior cervical region morphology abnormal posterior neck region abnormal regio cervicalis posterior morphology abnormal regio nuchalis morphology abnromal regio colli posterior morphology MPheno.ontology MP:0012723 abnormal nuchal region morphology MP:0012723 any structural anomaly of the posterior region of the neck, including the suboccipital region https://orcid.org/0000-0002-6490-7723 inability to form the crescent-shaped, ventrally located fold of the embryonic disc at the future cephalic end of the developing embryo; the head fold constitutes the first body fold, and initiates brain, foregut and heart development csmith 2014-03-20T15:02:28Z absent headfold failure of head fold formation failure of headfold formation MPheno.ontology MP:0012724 absent head fold MP:0012724 inability to form the crescent-shaped, ventrally located fold of the embryonic disc at the future cephalic end of the developing embryo; the head fold constitutes the first body fold, and initiates brain, foregut and heart development https://orcid.org/0000-0002-6490-7723 decreased size of the sebum secreting glands of the hair shaft csmith 2014-03-21T11:41:22Z decreased sebaceous gland size reduced sebaceous gland size MPheno.ontology MP:0012725 small sebaceous gland MP:0012725 decreased size of the sebum secreting glands of the hair shaft https://orcid.org/0000-0003-0431-8641 any structural anomaly of the corkscrew-like arteries in premenstrual or progestational endometrium; uterine spiral arteries play a vital role in supplying nutrients to the placenta and fetus, and are thus remodeled into highly dilated inelastic vessels by the action of invading trophoblast (physiological change) csmith 2014-03-21T11:51:18Z abnormal coiled artery of the uterus abnormal decidual spiral artery morphology abnormal endometrial spiral artery morphology abnormal maternal spiral artery morphology MPheno.ontology MP:0012726 abnormal uterine spiral artery morphology MP:0012726 any structural anomaly of the corkscrew-like arteries in premenstrual or progestational endometrium; uterine spiral arteries play a vital role in supplying nutrients to the placenta and fetus, and are thus remodeled into highly dilated inelastic vessels by the action of invading trophoblast (physiological change) https://orcid.org/0000-0002-6490-7723 any anomaly of the physiological conversion of the uterine spiral arteries into highly dilated vessels by the action of invading trophoblast; in pregnancy, trophoblast invasion and uterine spiral artery remodeling are important for lowering maternal vascular resistance and increasing uteroplacental blood flow; this process involves loss of smooth muscle and elastic lamina from the vessel wall, and significant dilation at the mouth of the vessel; impaired spiral artery remodeling has been implicated in preeclampsia, fetal growth restriction, and preterm labor csmith 2014-03-21T11:53:50Z abnormal decidual spiral artery remodeling abnormal endometrial spiral artery remodeling abnormal maternal spiral artery remodeling abnormal uterine spiral artery modification MPheno.ontology MP:0012727 abnormal uterine spiral artery remodeling MP:0012727 any anomaly of the physiological conversion of the uterine spiral arteries into highly dilated vessels by the action of invading trophoblast; in pregnancy, trophoblast invasion and uterine spiral artery remodeling are important for lowering maternal vascular resistance and increasing uteroplacental blood flow; this process involves loss of smooth muscle and elastic lamina from the vessel wall, and significant dilation at the mouth of the vessel; impaired spiral artery remodeling has been implicated in preeclampsia, fetal growth restriction, and preterm labor https://orcid.org/0000-0002-6490-7723 any structural anomaly of the anatomical surface separating somites; somite formation requires the physical separation of somitic tissue from the initially continuous presomitic mesoderm (PSM), coalescence of cells in the forming somite, and the establishment of a stable border between the somite and the PSM; when a somite forms in the anterior end of the PSM, an intersomitic boundary (also called a fissure, gap, or cleft) emerges, and it is rapidly followed by a mesenchymal-to-epithelial transition of cells that face a forming gap csmith 2014-03-21T13:33:17Z abnormal inter-somite border morphology abnormal intersomitic boundary morphology abnormal intersomitic fissure morphology abnormal segmental border morphology abnormal somite border cell morphology abnormal somite boundary morphology MPheno.ontology MP:0012728 abnormal somite border morphology MP:0012728 any structural anomaly of the anatomical surface separating somites; somite formation requires the physical separation of somitic tissue from the initially continuous presomitic mesoderm (PSM), coalescence of cells in the forming somite, and the establishment of a stable border between the somite and the PSM; when a somite forms in the anterior end of the PSM, an intersomitic boundary (also called a fissure, gap, or cleft) emerges, and it is rapidly followed by a mesenchymal-to-epithelial transition of cells that face a forming gap https://orcid.org/0000-0002-6490-7723 any structural anomaly of the left or right common carotid arteries which extend headward on each side of the anterior neck and deliver oxygenated nutrient filled blood from the heart to the head, neck and brain; the left originates in the arch of the aorta over the heart; the right originates in the brachiocephalic trunk, the largest branch from the arch of the aorta; each common carotid artery divides into an external and an internal carotid artery csmith 2014-03-21T15:56:12Z MPheno.ontology MP:0012729 abnormal common carotid artery morphology MP:0012729 any structural anomaly of the left or right common carotid arteries which extend headward on each side of the anterior neck and deliver oxygenated nutrient filled blood from the heart to the head, neck and brain; the left originates in the arch of the aorta over the heart; the right originates in the brachiocephalic trunk, the largest branch from the arch of the aorta; each common carotid artery divides into an external and an internal carotid artery https://orcid.org/0000-0002-6490-7723 any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes csmith 2014-03-21T15:56:12Z abnormal internal carotid morphology MPheno.ontology MP:0012730 abnormal internal carotid artery morphology MP:0012730 any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes https://orcid.org/0000-0002-6490-7723 any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the throat, neck glands, tongue, face, mouth, ear, scalp and dura mater of the meninges csmith 2014-03-21T15:56:12Z abnormal external carotid morphology MPheno.ontology MP:0012731 abnormal external carotid artery morphology MP:0012731 any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the throat, neck glands, tongue, face, mouth, ear, scalp and dura mater of the meninges https://orcid.org/0000-0002-6490-7723 any structural anomaly of the capillary bed that initially surrounds the relative avascular brain and spinal cord; the perineural vascular plexus (PNVP) is the precursor to the blood brain barrier formed by angioblasts which migrate away from somites and is recruited to surround the neural tube in response to VEGF; vascularization of the brain and spinal cord occurs via angiogenesis as sprouting vessels from the PNVP invade the neuroepithelium and grow inward toward the ventricular lumen csmith 2014-03-21T16:09:47Z abnormal PNVP morphology MPheno.ontology MP:0012732 abnormal perineural vascular plexus morphology MP:0012732 any structural anomaly of the capillary bed that initially surrounds the relative avascular brain and spinal cord; the perineural vascular plexus (PNVP) is the precursor to the blood brain barrier formed by angioblasts which migrate away from somites and is recruited to surround the neural tube in response to VEGF; vascularization of the brain and spinal cord occurs via angiogenesis as sprouting vessels from the PNVP invade the neuroepithelium and grow inward toward the ventricular lumen https://orcid.org/0000-0002-6490-7723 anomaly in the behavioral response induced by methamphetamine such as induced hyperactivity or stereotypic behavior csmith 2014-03-27T13:43:02Z abnormal behavioural response to methamphetamine MPheno.ontology MP:0012733 abnormal behavioral response to methamphetamine MP:0012733 anomaly in the behavioral response induced by methamphetamine such as induced hyperactivity or stereotypic behavior MPD:Molly any anomaly in the physiological changes induced by ionizing radiation such as UV light, X-rays, or gamma rays csmith 2014-03-27T13:45:54Z MPheno.ontology MP:0012734 abnormal response to radiation MP:0012734 any anomaly in the physiological changes induced by ionizing radiation such as UV light, X-rays, or gamma rays MPD:Molly any anomaly in the physiological changes induced by controlled exercise csmith 2014-03-27T13:45:54Z MPheno.ontology MP:0012735 abnormal response to exercise MP:0012735 any anomaly in the physiological changes induced by controlled exercise MPD:Molly any structural anomaly of one of the small cells that are produced during the development of an oocyte and ultimately degenerate; a polar body contains one of the nuclei derived from the first or second meiotic division but little or no cytoplasm csmith 2014-03-27T14:11:03Z MPheno.ontology MP:0012736 abnormal polar body morphology MP:0012736 any structural anomaly of one of the small cells that are produced during the development of an oocyte and ultimately degenerate; a polar body contains one of the nuclei derived from the first or second meiotic division but little or no cytoplasm https://orcid.org/0000-0002-6490-7723 any structural anomaly of the small cell formed by the first meiotic division of oocytes csmith 2014-03-27T14:11:03Z abnormal first polar body morphology abnormal polocytus primarius morphology MPheno.ontology MP:0012737 abnormal primary polar body morphology MP:0012737 any structural anomaly of the small cell formed by the first meiotic division of oocytes https://orcid.org/0000-0002-6490-7723 any structural anomaly of the small cell formed by the second meiotic division of oocytes; in mammals, the second polar body may fail to form unless the ovum has been penetrated by a sperm cell csmith 2014-03-27T14:11:03Z abnormal polocytus secundarius morphology abnormal second polar body morphology MPheno.ontology MP:0012738 abnormal secondary polar body morphology MP:0012738 any structural anomaly of the small cell formed by the second meiotic division of oocytes; in mammals, the second polar body may fail to form unless the ovum has been penetrated by a sperm cell https://orcid.org/0000-0002-6490-7723 any structural anomaly of the anterior region of the vertebrate primitive streak which gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node csmith 2014-03-27T14:17:32Z MPheno.ontology MP:0012739 abnormal anterior primitive streak morphology MP:0012739 any structural anomaly of the anterior region of the vertebrate primitive streak which gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node https://orcid.org/0000-0002-6490-7723 any structural anomaly of the posterior region of the vertebrate primitive streak which gives rise to the extraembryonic mesoderm csmith 2014-03-27T14:17:32Z MPheno.ontology MP:0012740 abnormal posterior primitive streak morphology MP:0012740 any structural anomaly of the posterior region of the vertebrate primitive streak which gives rise to the extraembryonic mesoderm https://orcid.org/0000-0002-6490-7723 reduced ability of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult to undergo rapid expansion by cell division csmith 2014-03-27T14:22:23Z decreased NCC proliferation reduced NCC proliferation reduced neural crest cell proliferation MPheno.ontology MP:0012741 decreased neural crest cell proliferation MP:0012741 reduced ability of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult to undergo rapid expansion by cell division https://orcid.org/0000-0002-6490-7723 enhanced ability of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult to undergo rapid expansion by cell division csmith 2014-03-27T14:22:23Z enhanced NCC proliferation enhanced neural crest cell proliferation increased NCC proliferation MPheno.ontology MP:0012742 increased neural crest cell proliferation MP:0012742 enhanced ability of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult to undergo rapid expansion by cell division https://orcid.org/0000-0002-6490-7723 increased number of cells of the blastocyst that develop into the body of the embryo undergoing programmed cell death csmith 2014-03-27T14:26:05Z enhanced ICM apoptosis enhanced inner cell mass apoptosis increased ICM apoptosis MPheno.ontology MP:0012743 increased inner cell mass apoptosis MP:0012743 increased number of cells of the blastocyst that develop into the body of the embryo undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increased number of any population of neural crest cells undergoing programmed cell death csmith 2014-03-27T14:29:32Z enhanced NCC apoptosis enhanced neural crest cell apoptosis increased NCC apoptosis MPheno.ontology MP:0012744 increased neural crest cell apoptosis MP:0012744 increased number of any population of neural crest cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 any functional anomaly in the complex process by which multipotent neural crest progenitors acquire migratory and invasive properties, emigrate from the dorsal aspect of the neural tube, migrate along distinct pathways, and differentiate into diverse cell types csmith 2014-03-27T14:31:00Z abnormal NCC physiology MPheno.ontology MP:0012745 abnormal neural crest cell physiology MP:0012745 any functional anomaly in the complex process by which multipotent neural crest progenitors acquire migratory and invasive properties, emigrate from the dorsal aspect of the neural tube, migrate along distinct pathways, and differentiate into diverse cell types https://orcid.org/0000-0002-6490-7723 any anomaly in the process by which a neural crest cell (NCC) physically dissociates from the neuroepithelium in the dorsal aspect of the neural tube; premigratory NCCs exist within a fully polarized epithelial layer, adjoined by adherens junctions and tight junctions; NCC delamination involves an epithelial-mesenchymal transition (EMT) during which epithelial cells are converted into migratory mesenchymal cells; EMT requires loss of apical-basal cell polarity and dissolution of tight junctions and is accompanied by changes in cytoskeletal organization and a switch in adhesive properties so that cells can separate from the neuroepithelium and emigrate csmith 2014-03-27T15:25:44Z abnormal NCC delamination abnormal NCC emigration abnormal NCC individualization abnormal NCC segregation abnormal neural crest cell emigration abnormal neural crest cell individualization abnormal neural crest cell segregation MPheno.ontology MP:0012746 abnormal neural crest cell delamination MP:0012746 any anomaly in the process by which a neural crest cell (NCC) physically dissociates from the neuroepithelium in the dorsal aspect of the neural tube; premigratory NCCs exist within a fully polarized epithelial layer, adjoined by adherens junctions and tight junctions; NCC delamination involves an epithelial-mesenchymal transition (EMT) during which epithelial cells are converted into migratory mesenchymal cells; EMT requires loss of apical-basal cell polarity and dissolution of tight junctions and is accompanied by changes in cytoskeletal organization and a switch in adhesive properties so that cells can separate from the neuroepithelium and emigrate https://orcid.org/0000-0002-6490-7723 any structural anomaly of the cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs migrate to the circumpharyngeal ridge (an arc-shape ridge located dorsal to the forming caudal pharyngeal arches) and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT); cardiac NCCs contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia csmith 2014-03-27T16:24:58Z abnormal cardiac NCC morphology MPheno.ontology MP:0012747 abnormal cardiac neural crest cell morphology MP:0012747 any structural anomaly of the cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs migrate to the circumpharyngeal ridge (an arc-shape ridge located dorsal to the forming caudal pharyngeal arches) and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT); cardiac NCCs contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia https://orcid.org/0000-0002-6490-7723 greater than expected number of cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia csmith 2014-03-27T16:25:55Z increased cardiac NCC number MPheno.ontology MP:0012748 increased cardiac neural crest cell number MP:0012748 greater than expected number of cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia https://orcid.org/0000-0002-6490-7723 reduction in the number of cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs migrate to the circumpharyngeal ridge and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT), and contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia csmith 2014-03-27T16:25:55Z decreased cardiac NCC number reduced cardiac NCC number reduced cardiac neural crest cell number MPheno.ontology MP:0012749 decreased cardiac neural crest cell number MP:0012749 reduction in the number of cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs migrate to the circumpharyngeal ridge and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT), and contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia https://orcid.org/0000-0002-6490-7723 absence or loss of the cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia; ablation of cardiac NCCs results in cardiac outflow defects csmith 2014-03-27T16:25:55Z MPheno.ontology MP:0012750 absent cardiac neural crest cells MP:0012750 absence or loss of the cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia; ablation of cardiac NCCs results in cardiac outflow defects https://orcid.org/0000-0002-6490-7723 abnormal or arrest of differentiation or patterning of the cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs have the potential to differentiate into smooth muscle cells of the cardiac outflow tract and its septum, walls of aortic and arch-derived arteries, all of the parasympathetic innervation of the heart, and the connective tissue of the glands in the head and neck region, including the thymus, thyroid and parathyroid glands csmith 2014-03-27T16:26:22Z MPheno.ontology impaired cardiac NCC differentiation MP:0012751 impaired cardiac neural crest cell differentiation MP:0012751 abnormal or arrest of differentiation or patterning of the cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs have the potential to differentiate into smooth muscle cells of the cardiac outflow tract and its septum, walls of aortic and arch-derived arteries, all of the parasympathetic innervation of the heart, and the connective tissue of the glands in the head and neck region, including the thymus, thyroid and parathyroid glands https://orcid.org/0000-0002-6490-7723 any anomaly in the migratory path of cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs which originate from the lower hindbrain between the otic placode and third somite and migrate to the circumpharyngeal ridge (an arc-shape ridge located dorsal to the forming caudal pharyngeal arches) and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT); cardiac NCCs undergo migration away from the neural tube by following a dorsolateral path under the ectoderm, leading them to the pharyngeal arches; after pausing, they resume migration under the pharyngeal endoderm and, along the aortic arch arteries, populate the cardiac OFT where they contribute the aorticopulmonary septum, and ultimately colonize the heart to form the ventricular septum and cardiac ganglia csmith 2014-03-27T16:28:36Z MPheno.ontology MP:0012752 abnormal cardiac neural crest cell migration MP:0012752 any anomaly in the migratory path of cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs which originate from the lower hindbrain between the otic placode and third somite and migrate to the circumpharyngeal ridge (an arc-shape ridge located dorsal to the forming caudal pharyngeal arches) and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT); cardiac NCCs undergo migration away from the neural tube by following a dorsolateral path under the ectoderm, leading them to the pharyngeal arches; after pausing, they resume migration under the pharyngeal endoderm and, along the aortic arch arteries, populate the cardiac OFT where they contribute the aorticopulmonary septum, and ultimately colonize the heart to form the ventricular septum and cardiac ganglia https://orcid.org/0000-0002-6490-7723 increased number of cardiac neural crest cells (NCCs) undergoing programmed cell death csmith 2014-03-27T16:28:53Z increased cardiac NCC apoptosis MPheno.ontology MP:0012753 increased cardiac neural crest cell apoptosis MP:0012753 increased number of cardiac neural crest cells (NCCs) undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 any structural anomaly of the neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage csmith 2014-04-09T16:02:30Z abnormal cephalic NCC morphology abnormal cephalic neural crest cell morphology abnormal cranial NCC morphology abnormal head NCC morphology abnormal head neural crest cell morphology MPheno.ontology MP:0012754 abnormal cranial neural crest cell morphology MP:0012754 any structural anomaly of the neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage http://discovery.lifemapsc.com/in-vivo-development/neural-crest/cranial-neural-crest http://embryology.med.unsw.edu.au/embryology/index.php?title=Neural_Crest_Development#Cranial_neural_crest http://en.wikipedia.org/wiki/Cranial_neural_crest https://orcid.org/0000-0002-6490-7723 reduction in the number of neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordial; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage csmith 2014-04-09T16:06:05Z decreased cranial NCC number reduced cranial NCC number reduced cranial neural crest cell number MPheno.ontology MP:0012755 decreased cranial neural crest cell number MP:0012755 reduction in the number of neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordial; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage https://orcid.org/0000-0002-6490-7723 abnormal or arrest of differentiation or patterning of the cranial neural crest cells csmith 2014-04-09T16:06:05Z impaired cephalic NCC differentiation impaired cephalic neural crest cell differentiation impaired cranial NCC differentiation impaired head NCC differentiation impaired head neural crest cell differentiation MPheno.ontology MP:0012756 impaired cranial neural crest cell differentiation MP:0012756 abnormal or arrest of differentiation or patterning of the cranial neural crest cells https://orcid.org/0000-0002-6490-7723 any anomaly in the migratory path of the cranial neural crest cells (NCCs), which originate in the anterior part of the developing embryo and reside between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordial; like their counterparts in the trunk, cranial NCCs contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage csmith 2014-04-09T16:15:56Z abnormal cephalic NCC migration abnormal cephalic neural crest cell migration abnormal cranial NCC migration abnormal head NCC migration abnormal head neural crest cell migration MPheno.ontology MP:0012757 abnormal cranial neural crest cell migration MP:0012757 any anomaly in the migratory path of the cranial neural crest cells (NCCs), which originate in the anterior part of the developing embryo and reside between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordial; like their counterparts in the trunk, cranial NCCs contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage https://orcid.org/0000-0002-6490-7723 any anomaly in the ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division csmith 2014-04-09T16:17:46Z abnormal cranial NCC proliferation MPheno.ontology MP:0012758 abnormal cranial neural crest cell proliferation MP:0012758 any anomaly in the ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division https://orcid.org/0000-0002-6490-7723 enhanced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division csmith 2014-04-09T16:18:35Z increased cranial NCC proliferation MPheno.ontology MP:0012759 increased cranial neural crest cell proliferation MP:0012759 enhanced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division https://orcid.org/0000-0002-6490-7723 reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division csmith 2014-04-09T16:18:35Z decreased cranial NCC proliferation reduced cranial NCC proliferation reduced cranial neural crest cell proliferation MPheno.ontology MP:0012760 decreased cranial neural crest cell proliferation MP:0012760 reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division https://orcid.org/0000-0002-6490-7723 increased number of cranial neural crest cells (NCCs) undergoing programmed cell death csmith 2014-04-09T16:20:16Z increased cephalic NCC apoptosis increased cephalic neural crest cell apoptosis increased cranial NCC apoptosis increased head NCC apoptosis increased head neural crest cell apoptosis MPheno.ontology MP:0012761 increased cranial neural crest cell apoptosis MP:0012761 increased number of cranial neural crest cells (NCCs) undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 any structural anomaly of a T cell that expresses an alpha-beta T cell receptor complex csmith 2014-04-09T21:48:51Z abnormal alpha-beta T lymphocyte morphology abnormal alpha-beta T-cell morphology abnormal alpha-beta T-lymphocyte morphology MPheno.ontology MP:0012762 abnormal alpha-beta T cell morphology MP:0012762 any structural anomaly of a T cell that expresses an alpha-beta T cell receptor complex CL:0000789 aberrant number of T cells that expresses an alpha-beta T cell receptor complex csmith 2014-04-09T21:58:23Z MPheno.ontology MP:0012763 abnormal alpha-beta T cell number MP:0012763 aberrant number of T cells that expresses an alpha-beta T cell receptor complex CL:0000789 greater number of T cells that expresses an alpha-beta T cell receptor complex csmith 2014-04-09T21:58:23Z MPheno.ontology MP:0012764 increased alpha-beta T cell number MP:0012764 greater number of T cells that expresses an alpha-beta T cell receptor complex CL:0000789 reduced number of T cells that expresses an alpha-beta T cell receptor complex csmith 2014-04-09T21:58:23Z MPheno.ontology MP:0012765 decreased alpha-beta T cell number MP:0012765 reduced number of T cells that expresses an alpha-beta T cell receptor complex CL:0000789 deviation in the number of KLRG1 positive NK cells that represent a maturation subset of NK cells and is linked to NK cell proliferation csmith 2014-04-09T22:17:58Z MPheno.ontology MP:0012766 abnormal KLRG1-positive NK cell number MP:0012766 deviation in the number of KLRG1 positive NK cells that represent a maturation subset of NK cells and is linked to NK cell proliferation PMID:19479342 https://orcid.org/0000-0003-4890-4685 increase in the number of KLRG1 positive NK cells that represent a maturation subset of NK cells and is linked to NK cell proliferation csmith 2014-04-09T22:19:45Z MPheno.ontology MP:0012767 increased KLRG1-positive NK cell number MP:0012767 increase in the number of KLRG1 positive NK cells that represent a maturation subset of NK cells and is linked to NK cell proliferation PMID:19479342 https://orcid.org/0000-0003-4890-4685 decrease in the number of KLRG1 positive NK cells that represent a maturation subset of NK cells and is linked to NK cell proliferation csmith 2014-04-09T22:19:45Z reduced KLRG1-positive NK cell number MPheno.ontology MP:0012768 decreased KLRG1-positive NK cell number MP:0012768 decrease in the number of KLRG1 positive NK cells that represent a maturation subset of NK cells and is linked to NK cell proliferation PMID:19479342 https://orcid.org/0000-0003-4890-4685 anomaly in the number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high csmith 2014-04-09T22:34:14Z MPheno.ontology MP:0012769 abnormal CD4-positive, alpha-beta memory T cell number MP:0012769 anomaly in the number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high CL:0000897 anomaly in the number of a CD4-positive, alpha-beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative csmith 2014-04-09T22:37:45Z MPheno.ontology MP:0012770 abnormal effector memory CD4-positive, alpha-beta T cell number MP:0012770 anomaly in the number of a CD4-positive, alpha-beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative CL:0000905 anomaly in the number of a CD4-positive, alpha-beta memory T cell with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative csmith 2014-04-09T22:37:57Z MPheno.ontology MP:0012771 abnormal central memory CD4-positive, alpha-beta T cell number MP:0012771 anomaly in the number of a CD4-positive, alpha-beta memory T cell with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative CL:0000904 an anomaly in the number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative csmith 2014-04-09T23:01:51Z MPheno.ontology MP:0012772 abnormal central memory CD8-positive, alpha-beta T cell number MP:0012772 an anomaly in the number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-positive, CD127-positive, CD45RO-positive, and CD25-negative MP:0000907 any anomaly in the number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release csmith 2014-04-09T23:11:23Z MPheno.ontology MP:0012773 abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell number MP:0012773 any anomaly in the number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release ISBN:0781735149 an anomaly in the number of CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive; this cell type is also described as being CD25-negative, CD44-high, and CD122-high csmith 2014-04-10T11:18:25Z MPheno.ontology MP:0012774 abnormal CD8-positive, alpha-beta memory T cell number MP:0012774 an anomaly in the number of CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive; this cell type is also described as being CD25-negative, CD44-high, and CD122-high CL:0000909 anomaly in the average weight of the brain csmith 2014-04-10T14:10:56Z MPheno.ontology MP:0012775 abnormal brain weight MP:0012775 anomaly in the average weight of the brain https://orcid.org/0000-0003-3691-0324 aberrant amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues csmith 2014-04-10T21:12:52Z abnormal hepatic cholesterol level MPheno.ontology MP:0012776 abnormal liver cholesterol level MP:0012776 aberrant amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues https://orcid.org/0000-0003-3691-0324 abnormal concentration of a readily converted carbohydrate reserve in liver csmith 2014-04-10T21:12:52Z abnormal hepatic glycogen level MPheno.ontology MP:0012777 abnormal liver glycogen level MP:0012777 abnormal concentration of a readily converted carbohydrate reserve in liver https://orcid.org/0000-0003-3691-0324 aberrant concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liverower than normal concentration of triacylglycerols in the liver csmith 2014-04-10T21:12:52Z abnormal hepatic triglyceride level MPheno.ontology MP:0012778 abnormal liver triglyceride level MP:0012778 aberrant concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liverower than normal concentration of triacylglycerols in the liver https://orcid.org/0000-0003-3691-0324 aberrant amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues csmith 2014-04-10T21:42:38Z MPheno.ontology MP:0012779 abnormal brain cholesterol level MP:0012779 aberrant amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues https://orcid.org/0000-0003-3691-0324 altered ability of phospholipid transfer proteins to transfer phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL) csmith 2014-04-10T22:01:02Z MPheno.ontology MP:0012780 abnormal phospholipid transfer protein activity MP:0012780 altered ability of phospholipid transfer proteins to transfer phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL) http://en.wikipedia.org/wiki/Phospholipid_transfer_protein https://orcid.org/0000-0001-5208-3432 greater ability of phospholipd transfer proteins to transfer phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL) csmith 2014-04-10T22:02:41Z MPheno.ontology MP:0012781 increased phospholipid transfer protein activity MP:0012781 greater ability of phospholipd transfer proteins to transfer phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL) http://en.wikipedia.org/wiki/Phospholipid_transfer_protein https://orcid.org/0000-0001-5208-3432 reduction in the ability of phospholipd transfer proteins to transfer phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL) csmith 2014-04-10T22:02:41Z reduced phospholipid transfer protein activity MPheno.ontology MP:0012782 decreased phospholipid transfer protein activity MP:0012782 reduction in the ability of phospholipd transfer proteins to transfer phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL) http://en.wikipedia.org/wiki/Phospholipid_transfer_protein https://orcid.org/0000-0001-5208-3432 anomaly in the weight of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle csmith 2014-04-10T22:07:20Z MPheno.ontology MP:0012783 abnormal extensor digitorum longus weight MP:0012783 anomaly in the weight of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle https://orcid.org/0000-0003-4606-0597 any structural anomaly of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus csmith 2014-04-14T15:29:54Z MPheno.ontology MP:0012784 abnormal rhombomere 1 morphology MP:0012784 any structural anomaly of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus UBERON:0005499 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 reduced size of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus csmith 2014-04-14T15:29:54Z reduced rhombomere 1 size MPheno.ontology MP:0012785 decreased rhombomere 1 size MP:0012785 reduced size of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus https://orcid.org/0000-0002-6490-7723 increased size of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus csmith 2014-04-14T15:29:54Z enlarged rhombomere 1 MPheno.ontology MP:0012786 increased rhombomere 1 size MP:0012786 increased size of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus https://orcid.org/0000-0002-6490-7723 absence of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus csmith 2014-04-14T15:29:54Z MPheno.ontology MP:0012787 absent rhombomere 1 MP:0012787 absence of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus https://orcid.org/0000-0002-6490-7723 any structural anomaly of the second transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:30:45Z MPheno.ontology MP:0012788 abnormal rhombomere 2 morphology MP:0012788 any structural anomaly of the second transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order UBERON:0005569 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 reduced size of the second transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:30:45Z reduced rhombomere 2 size MPheno.ontology MP:0012789 decreased rhombomere 2 size MP:0012789 reduced size of the second transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 increased size of the second transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:30:45Z enlarged rhombomere 2 MPheno.ontology MP:0012790 increased rhombomere 2 size MP:0012790 increased size of the second transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 absence of the second transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:30:45Z MPheno.ontology MP:0012791 absent rhombomere 2 MP:0012791 absence of the second transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 any structural anomaly of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:31:50Z MPheno.ontology MP:0012792 abnormal rhombomere 3 morphology MP:0012792 any structural anomaly of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order UBERON:0005507 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 reduced size of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:31:50Z reduced rhombomere 3 size MPheno.ontology MP:0012793 decreased rhombomere 3 size MP:0012793 reduced size of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 increased size of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:31:50Z enlarged rhombomere 3 MPheno.ontology MP:0012794 increased rhombomere 3 size MP:0012794 increased size of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 absence of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:31:50Z MPheno.ontology MP:0012795 absent rhombomere 3 MP:0012795 absence of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 any structural anomaly of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:32:30Z MPheno.ontology MP:0012796 abnormal rhombomere 4 morphology MP:0012796 any structural anomaly of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order UBERON:0005511 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 reduced size of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:32:30Z reduced rhombomere 4 size MPheno.ontology MP:0012797 decreased rhombomere 4 size MP:0012797 reduced size of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 increased size of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:32:30Z enlarged rhombomere 4 MPheno.ontology MP:0012798 increased rhombomere 4 size MP:0012798 increased size of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 absence of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:32:30Z MPheno.ontology MP:0012799 absent rhombomere 4 MP:0012799 absence of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 any structural anomaly of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:33:05Z MPheno.ontology MP:0012800 abnormal rhombomere 5 morphology MP:0012800 any structural anomaly of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order UBERON:0005515 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 reduced size of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:33:05Z reduced rhombomere 5 size MPheno.ontology MP:0012801 decreased rhombomere 5 size MP:0012801 reduced size of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 increased size of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:33:05Z enlarged rhombomere 5 MPheno.ontology MP:0012802 increased rhombomere 5 size MP:0012802 increased size of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 absence of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:33:05Z MPheno.ontology MP:0012803 absent rhombomere 5 MP:0012803 absence of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 any structural anomaly of the sixth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:33:40Z MPheno.ontology MP:0012804 abnormal rhombomere 6 morphology MP:0012804 any structural anomaly of the sixth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order UBERON:0005519 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 reduced size of the sixth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:33:40Z reduced rhombomere 6 size MPheno.ontology MP:0012805 decreased rhombomere 6 size MP:0012805 reduced size of the sixth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 increased size of the sixth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:33:40Z enlarged rhombomere 6 MPheno.ontology MP:0012806 increased rhombomere 6 size MP:0012806 increased size of the sixth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 absence of the sixth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:33:40Z MPheno.ontology MP:0012807 absent rhombomere 6 MP:0012807 absence of the sixth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 any structural anomaly of the seventh transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:34:33Z MPheno.ontology MP:0012808 abnormal rhombomere 7 morphology MP:0012808 any structural anomaly of the seventh transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order UBERON:0005523 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 reduced size of the seventh transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:34:33Z reduced rhombomere 7 size MPheno.ontology MP:0012809 decreased rhombomere 7 size MP:0012809 reduced size of the seventh transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 increased size of the seventh transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:34:33Z enlarged rhombomere 7 MPheno.ontology MP:0012810 increased rhombomere 7 size MP:0012810 increased size of the seventh transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 absence of the seventh transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:34:33Z MPheno.ontology MP:0012811 absent rhombomere 7 MP:0012811 absence of the seventh transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 any structural anomaly of the eighth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:35:10Z MPheno.ontology MP:0012812 abnormal rhombomere 8 morphology MP:0012812 any structural anomaly of the eighth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order UBERON:0005527 https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-3691-0324 reduced size of the eighth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:35:10Z reduced rhombomere 8 size MPheno.ontology MP:0012813 decreased rhombomere 8 size MP:0012813 reduced size of the eighth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 increased size of the eighth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:35:10Z enlarged rhombomere 8 MPheno.ontology MP:0012814 increased rhombomere 8 size MP:0012814 increased size of the eighth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 absence of the eighth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order csmith 2014-04-14T15:35:10Z MPheno.ontology MP:0012815 absent rhombomere 8 MP:0012815 absence of the eighth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order https://orcid.org/0000-0002-6490-7723 any structural anomaly of the anatomical surface separating the rhombomere segments csmith 2014-04-14T15:36:17Z MPheno.ontology MP:0012816 abnormal rhombomere boundary morphology MP:0012816 any structural anomaly of the anatomical surface separating the rhombomere segments https://orcid.org/0000-0003-3691-0324 the union of one or more rhombomeres into a single structure csmith 2014-04-14T15:36:17Z fused rhombomeres MPheno.ontology MP:0012817 rhombomere fusion MP:0012817 the union of one or more rhombomeres into a single structure https://orcid.org/0000-0003-3691-0324 homeotic transformation of a specific rhombomere to adopt the fate of another csmith 2014-04-14T15:36:17Z transformed rhombomeres MPheno.ontology MP:0012818 rhombomere transformation MP:0012818 homeotic transformation of a specific rhombomere to adopt the fate of another https://orcid.org/0000-0003-3691-0324 absence of the channel in the mesencephalon that connects the third and fourth ventricles csmith 2014-04-28T00:00:00Z absent aqueduct of Sylvius absent aqueduct of midbrain absent cerebral aqueduct of Sylvius absent mesencephalic duct absent mesencephalic vesicle cerebral aqueduct agenesis missing cerebral aqueduct MPheno.ontology MP:0013000 absent cerebral aqueduct MP:0013000 absence of the channel in the mesencephalon that connects the third and fourth ventricles https://orcid.org/0000-0002-6490-7723 any structural anomaly of the neural crest cells that arise predominantly from the vagal region of the neural tube (vagal neural crest), adjacent to somites 1-7 and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut; neural crest cells are termed enteric neural crest-derived cells upon entering the foregut at E9-9.5 in mice (after 4 weeks gestation in humans) csmith 2014-05-06T00:00:00Z abnormal ENCC morphology abnormal ENCDC morphology abnormal enteric neural crest-derived cell morphology MPheno.ontology MP:0013001 abnormal enteric neural crest cell morphology MP:0013001 any structural anomaly of the neural crest cells that arise predominantly from the vagal region of the neural tube (vagal neural crest), adjacent to somites 1-7 and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut; neural crest cells are termed enteric neural crest-derived cells upon entering the foregut at E9-9.5 in mice (after 4 weeks gestation in humans) PMID:17514199 https://orcid.org/0000-0002-6490-7723 a reduction in the number of neural crest cells that arise predominantly from the vagal region of the neural tube (vagal neural crest), adjacent to somites 1-7 and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut csmith decreased ENCC number decreased ENCDC number decreased enteric neural crest-derived cell number reduced ENCC number reduced ENCDC number reduced enteric neural crest cell number reduced enteric neural crest-derived cell number MPheno.ontology MP:0013002 decreased enteric neural crest cell number MP:0013002 a reduction in the number of neural crest cells that arise predominantly from the vagal region of the neural tube (vagal neural crest), adjacent to somites 1-7 and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut PMID:17514199 https://orcid.org/0000-0002-6490-7723 absence or loss of the neural crest cells that arise predominantly from the vagal region of the neural tube (vagal neural crest), adjacent to somites 1-7 and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut csmith 2014-05-06T00:00:00Z absent ENCCs absent ENCDCs absent enteric neural crest cells absent enteric neural crest-derived cells MPheno.ontology MP:0013003 absent enteric neural crest cell MP:0013003 absence or loss of the neural crest cells that arise predominantly from the vagal region of the neural tube (vagal neural crest), adjacent to somites 1-7 and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut PMID:17514199 https://orcid.org/0000-0002-6490-7723 any anomaly in the ability of the enteric neural crest cells to undergo rapid expansion by cell division csmith 2014-05-06T00:00:00Z abnormal ENCC proliferation abnormal ENCDC proliferation abnormal enteric neural crest-derived cell proliferation MPheno.ontology MP:0013004 abnormal enteric neural crest cell proliferation MP:0013004 any anomaly in the ability of the enteric neural crest cells to undergo rapid expansion by cell division PMID:17514199 https://orcid.org/0000-0002-6490-7723 reduced ability of the enteric neural crest cells to undergo rapid expansion by cell division csmith 2014-05-06T00:00:00Z decreased ENCC proliferation decreased ENCDC proliferation decreased enteric neural crest-derived cell proliferation reduced ENCC proliferation reduced ENCDC proliferation reduced enteric neural crest cell proliferation reduced enteric neural crest-derived cell proliferation MPheno.ontology MP:0013005 decreased enteric neural crest cell proliferation MP:0013005 reduced ability of the enteric neural crest cells to undergo rapid expansion by cell division https://orcid.org/0000-0002-6490-7723 any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut; NCCs are termed enteric neural crest-derived cells upon entering the foregut at E9-9.5 in mice (after 4 weeks gestation in humans) and the colonization process is complete by E15.5 (after 7 weeks gestation in humans) csmith 2014-05-06T00:00:00Z abnormal ENCC migration abnormal ENCDC migration abnormal enteric neural crest-derived cell migration MPheno.ontology MP:0013006 abnormal enteric neural crest cell migration MP:0013006 any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut; NCCs are termed enteric neural crest-derived cells upon entering the foregut at E9-9.5 in mice (after 4 weeks gestation in humans) and the colonization process is complete by E15.5 (after 7 weeks gestation in humans) PMID:17514199 https://orcid.org/0000-0002-6490-7723 any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7; at approximately E8.5-9 in the mouse, vagal NCCs invade the anterior foregut and migrate in a rostral to caudal direction to colonize the entire foregut, midgut, cecum, and hindgut and give rise to the majority of the enteric nervous system (ENS); colonization is complete by E15.5 (or after 7 weeks gestation in humans); the most caudal vagal NCCs, emanating from a region overlapping with the most anterior trunk NCCs, make a small contribution to the ENS of the esophagus and the anterior stomach csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013007 abnormal vagal neural crest cell migration MP:0013007 any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7; at approximately E8.5-9 in the mouse, vagal NCCs invade the anterior foregut and migrate in a rostral to caudal direction to colonize the entire foregut, midgut, cecum, and hindgut and give rise to the majority of the enteric nervous system (ENS); colonization is complete by E15.5 (or after 7 weeks gestation in humans); the most caudal vagal NCCs, emanating from a region overlapping with the most anterior trunk NCCs, make a small contribution to the ENS of the esophagus and the anterior stomach PMID:17514199 https://orcid.org/0000-0002-6490-7723 any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise from the sacral region of the neural tube (sacral neural crest), caudal to somite 28, and migrate caudo-rostrally to contribute to a small fraction of enteric neurons and glia in the distal midgut and hindgut; in the mouse, sacral NCCs emigrate from the neural tube at E9.5, accumulate bilateral to the hindgut to form prospective pelvic ganglia at E11.5, and from there enter the distal hindgut through its ventrolateral side at E13.5; they then migrate along nerve fibers extending from the pelvic ganglia toward the proximal hindgut, intermingling with rostrocaudally migrating vagal NCCs to differentiate into neurons and glia csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013008 abnormal sacral neural crest cell migration MP:0013008 any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise from the sacral region of the neural tube (sacral neural crest), caudal to somite 28, and migrate caudo-rostrally to contribute to a small fraction of enteric neurons and glia in the distal midgut and hindgut; in the mouse, sacral NCCs emigrate from the neural tube at E9.5, accumulate bilateral to the hindgut to form prospective pelvic ganglia at E11.5, and from there enter the distal hindgut through its ventrolateral side at E13.5; they then migrate along nerve fibers extending from the pelvic ganglia toward the proximal hindgut, intermingling with rostrocaudally migrating vagal NCCs to differentiate into neurons and glia PMID:17514199 http://www.ncbi.nlm.nih.gov/books/NBK10065/ https://orcid.org/0000-0002-6490-7723 increased number of vagal neural crest cells (NCCs) undergoing programmed cell death csmith 2014-05-06T00:00:00Z increased post-otic NCC apoptosis increased post-otic neural crest cell apoptosis increased vagal NCC apoptosis MPheno.ontology MP:0013009 increased vagal neural crest cell apoptosis MP:0013009 increased number of vagal neural crest cells (NCCs) undergoing programmed cell death PMID:22016183 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the neural crest cells (NCCs) that arise from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7 (the cranial part of the vagal level overlaps the caudal part of the cranial level, as the first few somites form adjacent to the rhombencephalon, not the spinal cord); the vagal neural crest produces the neurons and glial cells of the enteric nervous system (ENS); like NCCs from other axial levels, the vagal neural crest contributes to the neurons and glial cells of the peripheral nervous system and the melanocytes that populate the skin csmith 2014-05-06T00:00:00Z abnormal post-otic NCC morphology abnormal post-otic neural crest cell morphology abnormal vagal NCC morphology MPheno.ontology MP:0013010 abnormal vagal neural crest cell morphology MP:0013010 any structural anomaly of the neural crest cells (NCCs) that arise from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7 (the cranial part of the vagal level overlaps the caudal part of the cranial level, as the first few somites form adjacent to the rhombencephalon, not the spinal cord); the vagal neural crest produces the neurons and glial cells of the enteric nervous system (ENS); like NCCs from other axial levels, the vagal neural crest contributes to the neurons and glial cells of the peripheral nervous system and the melanocytes that populate the skin PMMID:22016183 https://orcid.org/0000-0002-6490-7723 absence of the neural crest cells (NCCs) that arise from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7 csmith 2014-05-06T00:00:00Z absent post-otic neural crest cells MPheno.ontology MP:0013011 absent vagal neural crest cells MP:0013011 absence of the neural crest cells (NCCs) that arise from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7 PMID:22016183 https://orcid.org/0000-0002-6490-7723 any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise from the trunk neural crest which lies between the vagal and sacral neural crest; there are two major pathways taken by the migrating trunk NCCs: (1) one group of cells fated to become melanocytes (the melanin-forming pigment cells) migrates dorsolaterally into the ectoderm towards the ventral midline and colonizes the skin and hair follicles; (2) a second group of cells migrates ventrolaterally through the anterior portion of each sclerotome; the cells that remain in the sclerotome form the dorsal root ganglia containing the sensory neurons, whereas those that continue more ventrally form the sympathetic ganglia, chromaffin cells of the adrenal medulla, Schwann (precursor) cells, and the nerve clusters surrounding the aorta csmith 2014-05-06T00:00:00Z abnormal body NCC migration abnormal body neural crest cell migration abnormal truncal NCC migration abnormal truncal neural crest cell migration abnormal trunk NCC migration MPheno.ontology MP:0013012 abnormal trunk neural crest cell migration MP:0013012 any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise from the trunk neural crest which lies between the vagal and sacral neural crest; there are two major pathways taken by the migrating trunk NCCs: (1) one group of cells fated to become melanocytes (the melanin-forming pigment cells) migrates dorsolaterally into the ectoderm towards the ventral midline and colonizes the skin and hair follicles; (2) a second group of cells migrates ventrolaterally through the anterior portion of each sclerotome; the cells that remain in the sclerotome form the dorsal root ganglia containing the sensory neurons, whereas those that continue more ventrally form the sympathetic ganglia, chromaffin cells of the adrenal medulla, Schwann (precursor) cells, and the nerve clusters surrounding the aorta http://www.ncbi.nlm.nih.gov/books/NBK10065/ https://orcid.org/0000-0002-6490-7723 any structural anomaly of the neural crest cells (NCCs) that arise from the trunk neural crest (located between the vagal and sacral neural crest) and differentiate into a variety of cell types, including melanocytes, the neurons and glia of the dorsal root and sympathetic ganglia, Schwann (precursor) cells, chromaffin cells of the adrenal medulla, and the nerve clusters surrounding the aorta csmith 2014-05-06T00:00:00Z abnormal body NCC morphology abnormal body neural crest cell morphology abnormal truncal NCC morphology abnormal truncal neural crest cell morphology abnormal trunk NCC morphology MPheno.ontology MP:0013013 abnormal trunk neural crest cell morphology MP:0013013 any structural anomaly of the neural crest cells (NCCs) that arise from the trunk neural crest (located between the vagal and sacral neural crest) and differentiate into a variety of cell types, including melanocytes, the neurons and glia of the dorsal root and sympathetic ganglia, Schwann (precursor) cells, chromaffin cells of the adrenal medulla, and the nerve clusters surrounding the aorta http://www.ncbi.nlm.nih.gov/books/NBK10065/ https://orcid.org/0000-0002-6490-7723 increased number of trunk neural crest cells (NCCs) undergoing programmed cell death csmith 2014-05-06T00:00:00Z increased body NCC apoptosis increased body neural crest cell apoptosis increased truncal NCC apoptosis increased truncal neural crest cell apoptosis increased trunk NCC apoptosis MPheno.ontology MP:0013014 increased trunk neural crest cell apoptosis MP:0013014 increased number of trunk neural crest cells (NCCs) undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 aberrant number of T cells that expresses an alpha-beta T cell receptor complex and the CD4 coreceptor but not NK cell markers MP:0008073 csmith 2014-05-06T00:00:00Z abnormal CD4-positive, alpha-beta T lymphocyte number MPheno.ontology MP:0013015 Generally, when immunologists write CD8 positive T cell, what they mean is CD8-positive, alpha-beta T cell (CL:0000625). Similarly, when immunologists write CD4 positive T cell, what they mean is CD4-positive, alpha-beta T cell (CL:0000624). T cells bearing the alpha-beta T cell receptor are the most common in the body, and are the most commonly studied, so much so, that in many published papers, the authors do not even bother to specify (or assume) they are studying alpha-beta T cells and thus omit saying so. This term was determed to be identical to previously entered term MP:0008073. The term label of MP:0008073 has been changed to reflect this. obsolete abnormal CD4-positive, alpha beta T cell number true MP:0013015 aberrant number of T cells that expresses an alpha-beta T cell receptor complex and the CD4 coreceptor but not NK cell markers CL:0000624 reduced number of T cells that expresses an alpha-beta T cell receptor complex and the CD4 coreceptor but not NK cell markers MP:0008074 csmith 2014-05-06T00:00:00Z increased CD4-positive, alpha-beta T lymphocyte number MPheno.ontology MP:0013016 Generally, when immunologists write CD8 positive T cell, what they mean is CD8-positive, alpha-beta T cell (CL:0000625). Similarly, when immunologists write CD4 positive T cell, what they mean is CD4-positive, alpha-beta T cell (CL:0000624). T cells bearing the alpha-beta T cell receptor are the most common in the body, and are the most commonly studied, so much so, that in many published papers, the authors do not even bother to specify (or assume) they are studying alpha-beta T cells and thus omit saying so. This term was determined to be identical to previously entered term MP:0008074. The term label of MP:0008074 has been changed to reflect this. obsolete increased CD4-positive, alpha beta T cell number true MP:0013016 reduced number of T cells that expresses an alpha-beta T cell receptor complex and the CD4 coreceptor but not NK cell markers CL:0000624 increased number of T cells that expresses an alpha-beta T cell receptor complex and the CD4 coreceptor but not NK cell markers MP:0008075 csmith 2014-05-06T00:00:00Z decreased CD4-positive, alpha-beta T lymphocyte number reduced CD4-positive, alpha-beta T cell number reduced CD4-positive, alpha-beta T lymphocyte number MPheno.ontology MP:0013017 Generally, when immunologists write CD8 positive T cell, what they mean is CD8-positive, alpha-beta T cell (CL:0000625). Similarly, when immunologists write CD4 positive T cell, what they mean is CD4-positive, alpha-beta T cell (CL:0000624). T cells bearing the alpha-beta T cell receptor are the most common in the body, and are the most commonly studied, so much so, that in many published papers, the authors do not even bother to specify (or assume) they are studying alpha-beta T cells and thus omit saying so. This term was determed to be identical to previously entered term MP:0008075. The term label of MP:0008075 has been changed to reflect this. obsolete decreased CD4-positive, alpha beta T cell number true MP:0013017 increased number of T cells that expresses an alpha-beta T cell receptor complex and the CD4 coreceptor but not NK cell markers CL:0000624 aberrant number of T cells that expresses an alpha-beta T cell receptor complex and the CD8 coreceptor but not NK cell markers MP:0008077 csmith 2014-05-06T00:00:00Z abnormal CD8-positive, alpha-beta T lymphocyte number MPheno.ontology MP:0013018 Generally, when immunologists write CD8 positive T cell, what they mean is CD8-positive, alpha-beta T cell (CL:0000625). Similarly, when immunologists write CD4 positive T cell, what they mean is CD4-positive, alpha-beta T cell (CL:0000624). T cells bearing the alpha-beta T cell receptor are the most common in the body, and are the most commonly studied, so much so, that in many published papers, the authors do not even bother to specify (or assume) they are studying alpha-beta T cells and thus omit saying so. This term was determed to be identical to previously entered term MP:0008077. The term label of MP:0008077 has been changed to reflect this. obsolete abnormal CD8-positive alpha beta T cell number true MP:0013018 greater number of T cells that expresses an alpha-beta T cell receptor complex and the CD8 coreceptor but not NK cell markers MP:0008078 csmith 2014-05-06T00:00:00Z increased CD8-positive, alpha-beta T lymphocyte number MPheno.ontology MP:0013019 Generally, when immunologists write CD8 positive T cell, what they mean is CD8-positive, alpha-beta T cell (CL:0000625). Similarly, when immunologists write CD4 positive T cell, what they mean is CD4-positive, alpha-beta T cell (CL:0000624). T cells bearing the alpha-beta T cell receptor are the most common in the body, and are the most commonly studied, so much so, that in many published papers, the authors do not even bother to specify (or assume) they are studying alpha-beta T cells and thus omit saying so. This term was determed to be identical to previously entered term MP:0008078. The term label of MP:0008078 has been changed to reflect this. obsolete increased CD8-positive, alpha beta T cell number true MP:0013019 reduced number of T cells that expresses an alpha-beta T cell receptor complex and the CD8 coreceptor but not NK cell markers MP:0008079 csmith 2014-05-06T00:00:00Z decreased CD8-positive, alpha beta T lymphocyte number decreased CD8-positive, alpha-beta T lymphocyte number reduced CD8-positive, alpha-beta T lymphocyte number MPheno.ontology MP:0013020 Generally, when immunologists write CD8 positive T cell, what they mean is CD8-positive, alpha-beta T cell (CL:0000625). Similarly, when immunologists write CD4 positive T cell, what they mean is CD4-positive, alpha-beta T cell (CL:0000624). T cells bearing the alpha-beta T cell receptor are the most common in the body, and are the most commonly studied, so much so, that in many published papers, the authors do not even bother to specify (or assume) they are studying alpha-beta T cells and thus omit saying so. This term was determed to be identical to previously entered term MP:0008079. The term label of MP:0008079 has been changed to reflect this. obsolete decreased CD8-positive, alpha beta T cell number true MP:0013020 deviation in the number of monocytes that express high levels of Ly6C and low MHC class II that represent a subset of circulating inflammatory monocytes that are recruited to infected or inflamed tissues csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013021 abnormal Ly6C high monocyte number MP:0013021 deviation in the number of monocytes that express high levels of Ly6C and low MHC class II that represent a subset of circulating inflammatory monocytes that are recruited to infected or inflamed tissues https://orcid.org/0000-0003-4890-4685 increase in the number of monocytes that express high levels of Ly6C and low MHC class II that represent a subset of circulating inflammatory monocytes that are recruited to infected or inflamed tissues csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013022 increased Ly6C high monocyte number MP:0013022 increase in the number of monocytes that express high levels of Ly6C and low MHC class II that represent a subset of circulating inflammatory monocytes that are recruited to infected or inflamed tissues https://orcid.org/0000-0003-4890-4685 decrease in the number of monocytes that express high levels of Ly6C and low MHC class II that represent a subset of circulating inflammatory monocytes that are recruited to infected or inflamed tissues csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013023 decreased Ly6C high monocyte number MP:0013023 decrease in the number of monocytes that express high levels of Ly6C and low MHC class II that represent a subset of circulating inflammatory monocytes that are recruited to infected or inflamed tissues https://orcid.org/0000-0003-4890-4685 deviation in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013024 abnormal Ly6C low monocyte number MP:0013024 deviation in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes https://orcid.org/0000-0003-4890-4685 increase in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013025 increased Ly6C low monocyte number MP:0013025 increase in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes https://orcid.org/0000-0003-4890-4685 decrease in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013026 decreased Ly6C low monocyte number MP:0013026 decrease in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes https://orcid.org/0000-0003-4890-4685 an injury resulting in damage that tears, cuts or breaks tissue MPheno.ontology MP:0013027 wounding MP:0013027 an injury resulting in damage that tears, cuts or breaks tissue https://orcid.org/0000-0002-4467-7270 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013028 open abrasion MP:0013028 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin https://orcid.org/0000-0002-4467-7270 a wound where the tissue has been torn from its attachment.; avulsion of skin on the extremities is sometimes called degloving csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013029 open avulsion MP:0013029 a wound where the tissue has been torn from its attachment.; avulsion of skin on the extremities is sometimes called degloving https://orcid.org/0000-0002-4467-7270 a wound created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013030 open incision MP:0013030 a wound created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal https://orcid.org/0000-0002-4467-7270 an irregular wound created by tearing of tissue; damage to both superficial and underlying tissue is variable csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013031 open laceration MP:0013031 an irregular wound created by tearing of tissue; damage to both superficial and underlying tissue is variable https://orcid.org/0000-0002-4467-7270 a penetrating wound cause by pointed object (e.g. bites) csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013032 open puncture MP:0013032 a penetrating wound cause by pointed object (e.g. bites) https://orcid.org/0000-0002-4467-7270 damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush) csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013033 closed contusion MP:0013033 damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush) https://orcid.org/0000-0002-4467-7270 injuries resulting in damage that tears or breaks tissue occurring across the whole body csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013034 entire body wounds MP:0013034 injuries resulting in damage that tears or breaks tissue occurring across the whole body https://orcid.org/0000-0002-4467-7270 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring across the whole body csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013035 entire body open abrasion MP:0013035 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring across the whole body https://orcid.org/0000-0002-4467-7270 a wound or wounds where the tissue has been torn from its attachment, occurring across the whole body; avulsion of skin on the extremities is sometimes called degloving csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013036 entire body open avulsion MP:0013036 a wound or wounds where the tissue has been torn from its attachment, occurring across the whole body; avulsion of skin on the extremities is sometimes called degloving https://orcid.org/0000-0002-4467-7270 a wound or wounds created by a sharp object, occurring across the whole body; edges are smooth and trauma to surrounding tissue is minimal csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013037 entire body open incision MP:0013037 a wound or wounds created by a sharp object, occurring across the whole body; edges are smooth and trauma to surrounding tissue is minimal https://orcid.org/0000-0002-4467-7270 an irregular wound or wounds created by tearing of tissue, occurring across the whole body; damage to both superficial and underlying tissue is variable csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013038 entire body open laceration MP:0013038 an irregular wound or wounds created by tearing of tissue, occurring across the whole body; damage to both superficial and underlying tissue is variable https://orcid.org/0000-0002-4467-7270 a penetrating wound or wounds occurring across the whole body caused by pointed object (e.g. bite) csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013039 entire body open puncture MP:0013039 a penetrating wound or wounds occurring across the whole body caused by pointed object (e.g. bite) https://orcid.org/0000-0002-4467-7270 damage of the skin and/or underlying strutures occurring across the whole body without breaking the skin (e.g. bruising, crush) csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013040 entire body closed contusion MP:0013040 damage of the skin and/or underlying strutures occurring across the whole body without breaking the skin (e.g. bruising, crush) https://orcid.org/0000-0002-4467-7270 injuries resulting in damage that tears or breaks tissue occurring on the thorax csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013041 thorax wound MP:0013041 injuries resulting in damage that tears or breaks tissue occurring on the thorax https://orcid.org/0000-0002-4467-7270 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the thorax csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013042 thorax open abrasion MP:0013042 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the thorax https://orcid.org/0000-0002-4467-7270 a wound on the thorax where the tissue has been torn from its attachment; avulsion of skin on the extremities is sometimes called degloving csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013043 thorax open avulsion MP:0013043 a wound on the thorax where the tissue has been torn from its attachment; avulsion of skin on the extremities is sometimes called degloving https://orcid.org/0000-0002-4467-7270 a wound on the thorax created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013044 thorax open incision MP:0013044 a wound on the thorax created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal https://orcid.org/0000-0002-4467-7270 an irregular wound on the thorax created by tearing of tissue; damage to both superficial and underlying tissue is variable csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013045 thorax open laceration MP:0013045 an irregular wound on the thorax created by tearing of tissue; damage to both superficial and underlying tissue is variable https://orcid.org/0000-0002-4467-7270 a penetrating wound on the thorax cause by pointed object (e.g. bite) csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013046 thorax open puncture MP:0013046 a penetrating wound on the thorax cause by pointed object (e.g. bite) https://orcid.org/0000-0002-4467-7270 damage of the skin and/or underlying strutures of the thorax without breaking the skin (e.g. bruising, crush) csmith 2014-05-06T00:00:00Z MPheno.ontology MP:0013047 thorax closed contusion MP:0013047 damage of the skin and/or underlying strutures of the thorax without breaking the skin (e.g. bruising, crush) https://orcid.org/0000-0002-4467-7270 injuries resulting in damage that tears or breaks tissue occurring on the abdomen MPheno.ontology MP:0013048 abdomen wound MP:0013048 injuries resulting in damage that tears or breaks tissue occurring on the abdomen https://orcid.org/0000-0002-4467-7270 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the abdomen MPheno.ontology MP:0013049 abdomen open abrasion MP:0013049 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the abdomen https://orcid.org/0000-0002-4467-7270 a wound occurring on the abdomen where the tissue has been torn from its attachment MPheno.ontology MP:0013050 abdomen open avulsion MP:0013050 a wound occurring on the abdomen where the tissue has been torn from its attachment https://orcid.org/0000-0002-4467-7270 a wound occurring on the abdomen created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal MPheno.ontology MP:0013051 abdomen open incision MP:0013051 a wound occurring on the abdomen created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal https://orcid.org/0000-0002-4467-7270 an irregular wound occurring on the abdomen created by tearing of tissue; damage to both superficial and underlying tissue is variable MPheno.ontology MP:0013052 abdomen open laceration MP:0013052 an irregular wound occurring on the abdomen created by tearing of tissue; damage to both superficial and underlying tissue is variable https://orcid.org/0000-0002-4467-7270 a penetrating wound occurring on the abdomen cause by pointed object (e.g. bite) MPheno.ontology MP:0013053 abdomen open puncture MP:0013053 a penetrating wound occurring on the abdomen cause by pointed object (e.g. bite) https://orcid.org/0000-0002-4467-7270 damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush), occurring on the abdomen MPheno.ontology MP:0013054 abdomen closed contusion MP:0013054 damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush), occurring on the abdomen https://orcid.org/0000-0002-4467-7270 injuries resulting in damage that tears or breaks tissue occurring on genital tissue csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013055 genital wound MP:0013055 injuries resulting in damage that tears or breaks tissue occurring on genital tissue https://orcid.org/0000-0002-4467-7270 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin occurring on genital tissue csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013056 genital open abrasion MP:0013056 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin occurring on genital tissue https://orcid.org/0000-0002-4467-7270 a wound occurring on genital tissue where the tissue has been torn from its attachment csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013057 genital open avulsion MP:0013057 a wound occurring on genital tissue where the tissue has been torn from its attachment https://orcid.org/0000-0002-4467-7270 a wound occurring on genital tissue created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013058 genital open incision MP:0013058 a wound occurring on genital tissue created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal https://orcid.org/0000-0002-4467-7270 an irregular wound occurring on genital tissue created by tearing of tissue; damage to both superficial and underlying tissue is variable csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013059 genital open laceration MP:0013059 an irregular wound occurring on genital tissue created by tearing of tissue; damage to both superficial and underlying tissue is variable https://orcid.org/0000-0002-4467-7270 a penetrating wound occurring on genital tissue cause by pointed object (e.g. bite) csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013060 genital open puncture MP:0013060 a penetrating wound occurring on genital tissue cause by pointed object (e.g. bite) https://orcid.org/0000-0002-4467-7270 damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush) occurring on genital tissue csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013061 genital closed contusion MP:0013061 damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush) occurring on genital tissue https://orcid.org/0000-0002-4467-7270 injuries resulting in damage that tears or breaks tissue occurring on teat tissue csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013062 teat wound MP:0013062 injuries resulting in damage that tears or breaks tissue occurring on teat tissue https://orcid.org/0000-0002-4467-7270 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin occurring on teat tissue csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013063 teat open abrasion MP:0013063 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin occurring on teat tissue https://orcid.org/0000-0002-4467-7270 a wound occurring on teat tissue where the tissue has been torn from its attachment csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013064 teat open avulsion MP:0013064 a wound occurring on teat tissue where the tissue has been torn from its attachment https://orcid.org/0000-0002-4467-7270 a wound occurring on teat tissue created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013065 teat open incision MP:0013065 a wound occurring on teat tissue created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal https://orcid.org/0000-0002-4467-7270 an irregular wound occurring on teat tissue created by tearing of tissue; damage to both superficial and underlying tissue is variable csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013066 teat open laceration MP:0013066 an irregular wound occurring on teat tissue created by tearing of tissue; damage to both superficial and underlying tissue is variable https://orcid.org/0000-0002-4467-7270 a penetrating wound occurring on teat tissue cause by pointed object (e.g. bite) csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013067 teat open puncture MP:0013067 a penetrating wound occurring on teat tissue cause by pointed object (e.g. bite) https://orcid.org/0000-0002-4467-7270 damage of the skin and/or underlying strutures occurring on teat tissue without breaking the skin (e.g. bruising, crush) csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013068 teat closed contusion MP:0013068 damage of the skin and/or underlying strutures occurring on teat tissue without breaking the skin (e.g. bruising, crush) https://orcid.org/0000-0002-4467-7270 injuries resulting in damage that tears or breaks tissue occurring on limbs csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013069 limb wound MP:0013069 injuries resulting in damage that tears or breaks tissue occurring on limbs https://orcid.org/0000-0002-4467-7270 damage to the skin occurring on limbs consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013070 limb open abrasion MP:0013070 damage to the skin occurring on limbs consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin https://orcid.org/0000-0002-4467-7270 a wound occurring on limbs where the tissue has been torn from its attachment; avulsion of skin on the extremities is sometimes called degloving csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013071 limb open avulsion MP:0013071 a wound occurring on limbs where the tissue has been torn from its attachment; avulsion of skin on the extremities is sometimes called degloving https://orcid.org/0000-0002-4467-7270 a wound occurring on limbs created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013072 limb open incision MP:0013072 a wound occurring on limbs created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal https://orcid.org/0000-0002-4467-7270 an irregular wound occurring on limbs created by tearing of tissue; damage to both superficial and underlying tissue is variable csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013073 limb open laceration MP:0013073 an irregular wound occurring on limbs created by tearing of tissue; damage to both superficial and underlying tissue is variable https://orcid.org/0000-0002-4467-7270 a penetrating wound occurring on limbs cause by pointed object (e.g. bite) csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013074 limb open puncture MP:0013074 a penetrating wound occurring on limbs cause by pointed object (e.g. bite) https://orcid.org/0000-0002-4467-7270 damage of the skin and/or underlying strutures occurring on limbs, without breaking the skin (e.g. bruising, crush) csmith 2014-05-07T00:00:00Z MPheno.ontology MP:0013075 limb closed contusion MP:0013075 damage of the skin and/or underlying strutures occurring on limbs, without breaking the skin (e.g. bruising, crush) https://orcid.org/0000-0002-4467-7270 injuries resulting in damage that tears or breaks tissue occurring on autopods csmith 2014-05-07T00:00:00Z paw wound MPheno.ontology MP:0013076 autopod wound MP:0013076 injuries resulting in damage that tears or breaks tissue occurring on autopods https://orcid.org/0000-0002-4467-7270 damage to the skin occurring on autopods consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin csmith 2014-05-07T00:00:00Z paw open abrasion MPheno.ontology MP:0013077 autopod open abrasion MP:0013077 damage to the skin occurring on autopods consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin https://orcid.org/0000-0002-4467-7270 a wound occurring on autopods where the tissue has been torn from its attachment; avulsion of skin on the extremities is sometimes called degloving csmith 2014-05-07T00:00:00Z paw open avulsion MPheno.ontology MP:0013078 autopod open avulsion MP:0013078 a wound occurring on autopods where the tissue has been torn from its attachment; avulsion of skin on the extremities is sometimes called degloving https://orcid.org/0000-0002-4467-7270 a wound occurring on autopods created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal csmith 2014-05-07T00:00:00Z paw open incision MPheno.ontology MP:0013079 autopod open incision MP:0013079 a wound occurring on autopods created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal https://orcid.org/0000-0002-4467-7270 an irregular wound occurring on autopods created by tearing of tissue; damage to both superficial and underlying tissue is variable csmith 2014-05-07T00:00:00Z paw open laceration MPheno.ontology MP:0013080 autopod open laceration MP:0013080 an irregular wound occurring on autopods created by tearing of tissue; damage to both superficial and underlying tissue is variable https://orcid.org/0000-0002-4467-7270 a penetrating wound occurring on autopods cause by pointed object (e.g. bite) csmith 2014-05-07T00:00:00Z paw open puncture MPheno.ontology MP:0013081 autopod open puncture MP:0013081 a penetrating wound occurring on autopods cause by pointed object (e.g. bite) https://orcid.org/0000-0002-4467-7270 damage of the skin and/or underlying strutures occurring on autopods, without breaking the skin (e.g. bruising, crush) csmith 2014-05-07T00:00:00Z paw closed contusion MPheno.ontology MP:0013082 autopod closed contusion MP:0013082 damage of the skin and/or underlying strutures occurring on autopods, without breaking the skin (e.g. bruising, crush) https://orcid.org/0000-0002-4467-7270 injuries resulting in damage that tears or breaks tissue occurring on the tail csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013083 tail wound MP:0013083 injuries resulting in damage that tears or breaks tissue occurring on the tail https://orcid.org/0000-0002-4467-7270 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the tail csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013084 tail open abrasion MP:0013084 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the tail https://orcid.org/0000-0002-4467-7270 a wound occurring on the tail where the tissue has been torn from its attachment; avulsion of skin on the extremities is sometimes called degloving csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013085 tail open avulsion MP:0013085 a wound occurring on the tail where the tissue has been torn from its attachment; avulsion of skin on the extremities is sometimes called degloving https://orcid.org/0000-0002-4467-7270 a wound occurring on the tail created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013086 tail open incision MP:0013086 a wound occurring on the tail created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal https://orcid.org/0000-0002-4467-7270 an irregular wound occurring on the tail created by tearing of tissue; damage to both superficial and underlying tissue is variable csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013087 tail open laceration MP:0013087 an irregular wound occurring on the tail created by tearing of tissue; damage to both superficial and underlying tissue is variable https://orcid.org/0000-0002-4467-7270 a penetrating wound occurring on the tail cause by pointed object (e.g. bite) csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013088 tail open puncture MP:0013088 a penetrating wound occurring on the tail cause by pointed object (e.g. bite) https://orcid.org/0000-0002-4467-7270 damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush), occurring on the tail csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013089 tail closed contusion MP:0013089 damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush), occurring on the tail https://orcid.org/0000-0002-4467-7270 injuries resulting in damage that tears or breaks tissue occurring on the head and/or neck csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013090 head or neck wound MP:0013090 injuries resulting in damage that tears or breaks tissue occurring on the head and/or neck https://orcid.org/0000-0002-4467-7270 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the head and/or neck csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013091 head or neck open abrasion MP:0013091 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the head and/or neck https://orcid.org/0000-0002-4467-7270 a wound where the tissue has been torn from its attachment occurring on the head and/or neck csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013092 head or neck open avulsion MP:0013092 a wound where the tissue has been torn from its attachment occurring on the head and/or neck https://orcid.org/0000-0002-4467-7270 a wound occurring on the head and/or neck created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013093 head or neck open incision MP:0013093 a wound occurring on the head and/or neck created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal https://orcid.org/0000-0002-4467-7270 an irregular wound occurring on the head and/or neck created by tearing of tissue; damage to both superficial and underlying tissue is variable csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013094 head or neck open laceration MP:0013094 an irregular wound occurring on the head and/or neck created by tearing of tissue; damage to both superficial and underlying tissue is variable https://orcid.org/0000-0002-4467-7270 a penetrating wound occurring on the head and/or neck cause by pointed object (e.g. bite) csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013095 head or neck open puncture MP:0013095 a penetrating wound occurring on the head and/or neck cause by pointed object (e.g. bite) https://orcid.org/0000-0002-4467-7270 damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush), occurring on the head and/or neck csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013096 head or neck closed contusion MP:0013096 damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush), occurring on the head and/or neck https://orcid.org/0000-0002-4467-7270 injuries resulting in damage that tears or breaks tissue occurring on the ears csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013097 ear wound MP:0013097 injuries resulting in damage that tears or breaks tissue occurring on the ears https://orcid.org/0000-0002-4467-7270 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the ears csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013098 ear open abrasion MP:0013098 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the ears https://orcid.org/0000-0002-4467-7270 a wound occurring on the ears where the tissue has been torn from its attachment csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013099 ear open avulsion MP:0013099 a wound occurring on the ears where the tissue has been torn from its attachment https://orcid.org/0000-0002-4467-7270 a wound occurring on the ears created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013100 ear open incision MP:0013100 a wound occurring on the ears created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal https://orcid.org/0000-0002-4467-7270 an irregular wound occurring on the ears created by tearing of tissue; damage to both superficial and underlying tissue is variable csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013101 ear open laceration MP:0013101 an irregular wound occurring on the ears created by tearing of tissue; damage to both superficial and underlying tissue is variable https://orcid.org/0000-0002-4467-7270 a penetrating wound occurring on the ears cause by pointed object (e.g. bite) csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013102 ear open puncture MP:0013102 a penetrating wound occurring on the ears cause by pointed object (e.g. bite) https://orcid.org/0000-0002-4467-7270 damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush), occurring on the ears csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013103 ear closed contusion MP:0013103 damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush), occurring on the ears https://orcid.org/0000-0002-4467-7270 injuries resulting in damage that tears or breaks tissue occurring on the nose csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013104 nose wound MP:0013104 injuries resulting in damage that tears or breaks tissue occurring on the nose https://orcid.org/0000-0002-4467-7270 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the nose csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013105 nose open abrasion MP:0013105 damage to the skin consisting of loss of the epidermis and portions of the dermis but not the complete thickness of the skin, occurring on the nose https://orcid.org/0000-0002-4467-7270 a wound occurring on the nose where the tissue has been torn from its attachment csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013106 nose open avulsion MP:0013106 a wound occurring on the nose where the tissue has been torn from its attachment https://orcid.org/0000-0002-4467-7270 a wound occurring on the nose created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013107 nose open incision MP:0013107 a wound occurring on the nose created by a sharp object; edges are smooth and trauma to surrounding tissue is minimal https://orcid.org/0000-0002-4467-7270 an irregular wound occurring on the nose created by tearing of tissue; damage to both superficial and underlying tissue is variable csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013108 nose open laceration MP:0013108 an irregular wound occurring on the nose created by tearing of tissue; damage to both superficial and underlying tissue is variable https://orcid.org/0000-0002-4467-7270 a penetrating wound occurring on the nose cause by pointed object (e.g. bite) csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013109 nose open puncture MP:0013109 a penetrating wound occurring on the nose cause by pointed object (e.g. bite) https://orcid.org/0000-0002-4467-7270 damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush), occurring on the nose csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013110 nose closed contusion MP:0013110 damage of the skin and/or underlying strutures without breaking the skin (e.g. bruising, crush), occurring on the nose https://orcid.org/0000-0002-4467-7270 fur on the abdomen is oily in appearance or texture MPheno.ontology MP:0013111 greasy abdomen coat MP:0013111 fur on the abdomen is oily in appearance or texture https://orcid.org/0000-0002-4467-7270 https://orcid.org/0000-0003-3691-0324 fur on the thorax is oily in appearance or texture csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013112 greasy thorax coat MP:0013112 fur on the thorax is oily in appearance or texture https://orcid.org/0000-0002-4467-7270 https://orcid.org/0000-0003-3691-0324 tail is oily in appearance or texture csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013113 greasy tail MP:0013113 tail is oily in appearance or texture https://orcid.org/0000-0002-4467-7270 https://orcid.org/0000-0003-3691-0324 head and/or neck is oily in appearance or texture csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013114 greasy head/neck MP:0013114 head and/or neck is oily in appearance or texture https://orcid.org/0000-0002-4467-7270 focal absence of hair on the abdomen, in those areas where hair is normally expected, resulting in visible patches of skin and uneven spots of hair growth on the body csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013115 focal hair loss in abdominal region MP:0013115 focal absence of hair on the abdomen, in those areas where hair is normally expected, resulting in visible patches of skin and uneven spots of hair growth on the body https://orcid.org/0000-0002-4467-7270 https://orcid.org/0000-0003-3691-0324 focal absence of hair in the head and/or neck region, in those areas where hair is normally expected, resulting in visible patches of skin and uneven spots of hair growth on the body csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013116 focal hair loss in head/neck region MP:0013116 focal absence of hair in the head and/or neck region, in those areas where hair is normally expected, resulting in visible patches of skin and uneven spots of hair growth on the body https://orcid.org/0000-0002-4467-7270 https://orcid.org/0000-0003-3691-0324 focal absence of hair on the thorax, in those areas where hair is normally expected, resulting in visible patches of skin and uneven spots of hair growth on the body csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013117 focal hair loss in thorax region MP:0013117 focal absence of hair on the thorax, in those areas where hair is normally expected, resulting in visible patches of skin and uneven spots of hair growth on the body https://orcid.org/0000-0002-4467-7270 https://orcid.org/0000-0003-3691-0324 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013118 swellings MP:0013118 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin https://orcid.org/0000-0002-4467-7270 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin in the abdominal region csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013119 abdomen swellings MP:0013119 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin in the abdominal region https://orcid.org/0000-0002-4467-7270 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin in the urogenital region csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013120 urogenital swellings MP:0013120 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin in the urogenital region https://orcid.org/0000-0002-4467-7270 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin of the testicles csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013121 testicular swellings MP:0013121 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin of the testicles https://orcid.org/0000-0002-4467-7270 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin of the tail csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013122 tail swellings MP:0013122 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin of the tail https://orcid.org/0000-0002-4467-7270 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin in the head/neck region csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013123 head/neck swellings MP:0013123 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin in the head/neck region https://orcid.org/0000-0002-4467-7270 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) in the mouth region csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013124 mouth swellings MP:0013124 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) in the mouth region https://orcid.org/0000-0002-4467-7270 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin in the thorax region csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013125 thorax swellings MP:0013125 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin in the thorax region https://orcid.org/0000-0002-4467-7270 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin in the teat region csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013126 teat swellings MP:0013126 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin in the teat region https://orcid.org/0000-0002-4467-7270 hemorrhage from the nose, usually apparent when the blood drains out through the nostrils csmith 2014-05-08T00:00:00Z nasal haemorrhage nasal hemorrhage nose bleeding nosebleed MPheno.ontology MP:0013127 epistaxis MP:0013127 hemorrhage from the nose, usually apparent when the blood drains out through the nostrils https://orcid.org/0000-0002-4467-7270 https://orcid.org/0000-0003-3691-0324 bleeding from the nipples csmith 2014-05-08T00:00:00Z nipple haemorrhage MPheno.ontology MP:0013128 nipple hemorrhage MP:0013128 bleeding from the nipples https://orcid.org/0000-0002-4467-7270 anomaly in the color and shading of the teeth, which normally present in shades of white csmith 2014-05-08T00:00:00Z abnormal tooth colour MPheno.ontology MP:0013129 abnormal tooth color MP:0013129 anomaly in the color and shading of the teeth, which normally present in shades of white https://orcid.org/0000-0002-4467-7270 anomaly in the color and shading of the gums, which normally present in shades of red csmith 2014-05-08T00:00:00Z abnormal gum colour MPheno.ontology MP:0013130 abnormal gum color MP:0013130 anomaly in the color and shading of the gums, which normally present in shades of red https://orcid.org/0000-0002-4467-7270 lips lack normal reddish coloration; often occurs with a bloodless or reduced vasculature condition csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013131 pale lips MP:0013131 lips lack normal reddish coloration; often occurs with a bloodless or reduced vasculature condition https://orcid.org/0000-0003-3691-0324 gums lack normal reddish coloration; often occurs with a bloodless or reduced vasculature condition MPheno.ontology MP:0013132 pale gums MP:0013132 gums lack normal reddish coloration; often occurs with a bloodless or reduced vasculature condition https://orcid.org/0000-0003-3691-0324 limbs lack normal ruddy coloration; often occurs with a bloodless or reduced vasculature condition csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013133 pale limbs MP:0013133 limbs lack normal ruddy coloration; often occurs with a bloodless or reduced vasculature condition https://orcid.org/0000-0003-3691-0324 insufficient movement of blood throughout the autopods, resulting in a pale appearance and cool to touch csmith 2014-05-08T00:00:00Z poor circulation in paws MPheno.ontology MP:0013134 poor circulation in autopods MP:0013134 insufficient movement of blood throughout the autopods, resulting in a pale appearance and cool to touch https://orcid.org/0000-0002-4467-7270 insufficient movement of blood throughout the tail, resulting in a pale appearance and cool to touch csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013135 poor circulation in tail MP:0013135 insufficient movement of blood throughout the tail, resulting in a pale appearance and cool to touch https://orcid.org/0000-0002-4467-7270 the emission or secretion of unusual fluid from the genitals csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013136 genital discharge MP:0013136 the emission or secretion of unusual fluid from the genitals https://orcid.org/0000-0002-4467-7270 the emission or secretion of unusual fluid from the nipples csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013137 nipple discharge MP:0013137 the emission or secretion of unusual fluid from the nipples https://orcid.org/0000-0002-4467-7270 lean or slender in form csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013138 thin body MP:0013138 lean or slender in form https://orcid.org/0000-0002-4467-7270 in terminal decline and approaching death; lacking vitality or vigor and becoming unresponsive csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013139 moribund MP:0013139 in terminal decline and approaching death; lacking vitality or vigor and becoming unresponsive https://orcid.org/0000-0002-4467-7270 producing sound from the vocal organs more frequently or more loudly than expected csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013140 excessive vocalization MP:0013140 producing sound from the vocal organs more frequently or more loudly than expected https://orcid.org/0000-0002-4467-7270 subjects exhibit greater than the normal level of domineering, assertive posturing and/or hostile physical action toward partners while mating csmith 2014-05-08T00:00:00Z sexually aggressive behaviour MPheno.ontology MP:0013141 sexually aggressive behavior MP:0013141 subjects exhibit greater than the normal level of domineering, assertive posturing and/or hostile physical action toward partners while mating https://orcid.org/0000-0002-4467-7270 tenderness or irritation of the anal area, usually evident by redness of the area csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013142 anal soreness MP:0013142 tenderness or irritation of the anal area, usually evident by redness of the area https://orcid.org/0000-0002-4467-7270 local accumulation of fluid, plasma proteins, and leukocytes in the penis csmith 2014-05-08T00:00:00Z inflamed penes inflamed penis inflamed penises penile inflammation penitis phallitis MPheno.ontology MP:0013143 penis inflammation MP:0013143 local accumulation of fluid, plasma proteins, and leukocytes in the penis https://orcid.org/0000-0002-4467-7270 https://orcid.org/0000-0002-6490-7723 OBSOLETE. skin is oily in appearance or texture MP:0001197 csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013144 obsolete greasy skin true MP:0013144 OBSOLETE. skin is oily in appearance or texture https://orcid.org/0000-0002-4467-7270 the emission or secretion of unusual fluid from the eyes csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013145 eye discharge MP:0013145 the emission or secretion of unusual fluid from the eyes https://orcid.org/0000-0002-4467-7270 lesions on or around the eyes csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013146 eye lesions MP:0013146 lesions on or around the eyes https://orcid.org/0000-0002-4467-7270 severe or complete loss of power of voluntary movement in muscles of the limbs through injury or disease of muscles or of the nerve supply csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013147 limb paralysis MP:0013147 severe or complete loss of power of voluntary movement in muscles of the limbs through injury or disease of muscles or of the nerve supply https://orcid.org/0000-0002-4467-7270 inflammation of the teats or mammary glands csmith 2014-05-08T00:00:00Z breast inflammation mammary gland inflammation MPheno.ontology MP:0013148 mastitis MP:0013148 inflammation of the teats or mammary glands https://orcid.org/0000-0002-4467-7270 significant increase in the length and girth dimensions of most or all of a digit compared to the expected size csmith 2014-05-08T00:00:00Z megadactyly MPheno.ontology MP:0013149 macrodactyly MP:0013149 significant increase in the length and girth dimensions of most or all of a digit compared to the expected size https://orcid.org/0000-0002-4467-7270 anomaly in the involuntary bristling of hairs on the head and/or neck that occurs when an organism is cold or experiences strong emotions such as fear or awe csmith 2014-05-08T00:00:00Z MPheno.ontology MP:0013150 head/neck piloerection MP:0013150 anomaly in the involuntary bristling of hairs on the head and/or neck that occurs when an organism is cold or experiences strong emotions such as fear or awe https://orcid.org/0000-0002-4467-7270 aberration from the normal frequency of tumor incidence induced by a carcinogen, mutagen or virus csmith abnormal incidence of induced tumours MPheno.ontology MP:0013151 abnormal incidence of induced tumors MP:0013151 aberration from the normal frequency of tumor incidence induced by a carcinogen, mutagen or virus https://orcid.org/0000-0003-3691-0324 anomaly in the expected number of tumors originating in a specific body region or organ in a given population in a given time period abnormal organ/body region tumour incidence MPheno.ontology MP:0013152 abnormal organ/body region tumor incidence MP:0013152 anomaly in the expected number of tumors originating in a specific body region or organ in a given population in a given time period https://orcid.org/0000-0003-3691-0324 anomaly in the number of CD8+ alpha beta T cells that express KLRG1, a marker of effector and memory T cells csmith 2014-05-19T00:00:00Z MPheno.ontology MP:0013153 abnormal KLRG1+ CD8 alpha-beta T cell number MP:0013153 anomaly in the number of CD8+ alpha beta T cells that express KLRG1, a marker of effector and memory T cells https://orcid.org/0000-0003-3691-0324 increase in the number of CD8+ alpha beta T cells that express KLRG1, a marker of effector and memory T cells csmith 2014-05-19T00:00:00Z MPheno.ontology MP:0013154 increased KLRG1+ CD8 alpha-beta T cell number MP:0013154 increase in the number of CD8+ alpha beta T cells that express KLRG1, a marker of effector and memory T cells https://orcid.org/0000-0003-3691-0324 decrease in the number of CD8+ alpha beta T cells that express KLRG1, a marker of effector and memory T cells csmith 2014-05-19T00:00:00Z reduced KLRG1+ CD8 alpha beta T cell number MPheno.ontology MP:0013155 decreased KLRG1+ CD8 alpha-beta T cell number MP:0013155 decrease in the number of CD8+ alpha beta T cells that express KLRG1, a marker of effector and memory T cells https://orcid.org/0000-0003-3691-0324 anomaly in the number of CD4+ alpha beta T cells that express KLRG1, a marker of effector/memory and regulatory T cells csmith 2014-05-19T00:00:00Z MPheno.ontology MP:0013156 abnormal KLRG1+ CD4 alpha-beta T cell number MP:0013156 anomaly in the number of CD4+ alpha beta T cells that express KLRG1, a marker of effector/memory and regulatory T cells https://orcid.org/0000-0003-3691-0324 increase in the number of CD4+ alpha beta T cells that express KLRG1, a marker of effector/memory and regulatory T cells csmith 2014-05-19T00:00:00Z MPheno.ontology MP:0013157 increased KLRG1+ CD4 alpha-beta T cell number MP:0013157 increase in the number of CD4+ alpha beta T cells that express KLRG1, a marker of effector/memory and regulatory T cells https://orcid.org/0000-0003-3691-0324 reduction in the number of CD4+ alpha beta T cells that express KLRG1, a marker of effector/memory and regulatory T cells csmith 2014-05-19T00:00:00Z reduced KLRG1+ CD4 alpha beta T cell number MPheno.ontology MP:0013158 decreased KLRG1+ CD4 alpha-beta T cell number MP:0013158 reduction in the number of CD4+ alpha beta T cells that express KLRG1, a marker of effector/memory and regulatory T cells https://orcid.org/0000-0003-3691-0324 Purkinje cell-autonomous progressive dystrophy leading to cell death, manifested by axonal swellings and degeneration of nerve terminals, while Purkinje cell dendrites remain largely unaffected MPheno.ontology MP:0013159 Purkinje cell axonal dystrophy MP:0013159 Purkinje cell-autonomous progressive dystrophy leading to cell death, manifested by axonal swellings and degeneration of nerve terminals, while Purkinje cell dendrites remain largely unaffected https://orcid.org/0000-0003-3691-0324 decrease in the renewal, repair, and/or regrowth of muscle tissue following injury or disease decreased muscle regeneration reduced muscle regeneration MPheno.ontology MP:0013160 impaired muscle regeneration MP:0013160 decrease in the renewal, repair, and/or regrowth of muscle tissue following injury or disease https://orcid.org/0000-0002-6490-7723 increase in the renewal, repair, and/or regrowth of muscle tissue following injury or disease improved muscle regeneration increased muscle regeneration MPheno.ontology MP:0013161 enhanced muscle regeneration MP:0013161 increase in the renewal, repair, and/or regrowth of muscle tissue following injury or disease https://orcid.org/0000-0003-3691-0324 any structural anomaly of the narrow median bridge that joins together the lower thirds of the two lateral (right and left) lobes of the thyroid gland and usually covers the second and the third tracheal rings; the thyroid isthmus is variable in presence and size, can change shape and size, and can encompass a cranially extending pyramid lobe (lobus pyramidalis or processus pyramidalis), remnant of the thyroglossal duct abnormal isthmus glandulae thyroideae morphology abnormal thyroid isthmus morphology MPheno.ontology MP:0013162 abnormal thyroid gland isthmus morphology MP:0013162 any structural anomaly of the narrow median bridge that joins together the lower thirds of the two lateral (right and left) lobes of the thyroid gland and usually covers the second and the third tracheal rings; the thyroid isthmus is variable in presence and size, can change shape and size, and can encompass a cranially extending pyramid lobe (lobus pyramidalis or processus pyramidalis), remnant of the thyroglossal duct https://orcid.org/0000-0002-6490-7723 absence of the narrow median bridge that joins together the lower thirds of the two lateral (right and left) lobes of the thyroid gland absent isthmus glandulae thyroideae absent thyroid isthmus agenesis of isthmus glandulae thyroideae thyroid gland isthmus agenesis thyroid isthmus agenesis MPheno.ontology MP:0013163 absent thyroid gland isthmus MP:0013163 absence of the narrow median bridge that joins together the lower thirds of the two lateral (right and left) lobes of the thyroid gland https://orcid.org/0000-0002-6490-7723 any structural anomaly of the limb bud that develops into a forelimb (usually the arm or front limb in mammalian species) abnormal anterior limb bud morphology MPheno.ontology MP:0013164 abnormal forelimb bud morphology MP:0013164 any structural anomaly of the limb bud that develops into a forelimb (usually the arm or front limb in mammalian species) https://orcid.org/0000-0002-6490-7723 absence or loss of the limb bud that normally develops into a forelimb (usually the arm or front limb in mammalian species) absent anterior limb buds MPheno.ontology MP:0013165 absent forelimb buds MP:0013165 absence or loss of the limb bud that normally develops into a forelimb (usually the arm or front limb in mammalian species) https://orcid.org/0000-0002-6490-7723 reduced size of the limb bud that normally develops into a forelimb (usually the arm or front limb in mammalian species) decreased anterior limb bud size decreased forelimb bud size reduced anterior limb bud size reduced forelimb bud size small anterior limb buds MPheno.ontology MP:0013166 small forelimb buds MP:0013166 reduced size of the limb bud that normally develops into a forelimb (usually the arm or front limb in mammalian species) https://orcid.org/0000-0002-6490-7723 any structural anomaly of the limb bud that develops into a hindlimb (usually the leg or back limb in mammalian species) abnormal hind limb bud morphology abnormal posterior limb bud morphology MPheno.ontology MP:0013167 abnormal hindlimb bud morphology MP:0013167 any structural anomaly of the limb bud that develops into a hindlimb (usually the leg or back limb in mammalian species) https://orcid.org/0000-0002-6490-7723 absence or loss of the limb bud that normally develops into a hindlimb (usually the leg or back limb in mammalian species) absence of hind limb buds absent posterior limb buds MPheno.ontology MP:0013168 absent hindlimb buds MP:0013168 absence or loss of the limb bud that normally develops into a hindlimb (usually the leg or back limb in mammalian species) https://orcid.org/0000-0002-6490-7723 reduced size of the limb bud that normally develops into a hindlimb (usually the leg or back limb in mammalian species) decreased hind limb bud size decreased hindlimb bud size decreased posterior limb bud size reduced hind limb bud size reduced hindlimb bud size reduced posterior limb bud size small hind limb buds small posterior limb buds MPheno.ontology MP:0013169 small hindlimb buds MP:0013169 reduced size of the limb bud that normally develops into a hindlimb (usually the leg or back limb in mammalian species) https://orcid.org/0000-0002-6490-7723 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) on or around the eyes MPheno.ontology MP:0013170 eye swellings MP:0013170 appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) on or around the eyes MGI:Ahmed_Retha bleeding through the ear canal ear haemorrhage MPheno.ontology MP:0013171 ear hemorrhage MP:0013171 bleeding through the ear canal MGI:Ahmed_Retha OBSOLETE. accidental or natural termination of a clear pregnancy at a stage where the fetus is incapable of surviving independently of the mother MP:0031434 spontaneous abortion MPheno.ontology MP:0013172 obsolete miscarriage true MP:0013172 OBSOLETE. accidental or natural termination of a clear pregnancy at a stage where the fetus is incapable of surviving independently of the mother https://orcid.org/0000-0002-4467-7270 retrogressive pathological change of the group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve) Gasserian ganglion degeneration cranial ganglion V degeneration semi-lunar ganglion degeneration semilunar ganglion degeneration trigeminal ganglia degeneration trigeminal ganglion of trigeminal (V) nerve degeneration MPheno.ontology MP:0013173 trigeminal ganglion degeneration MP:0013173 retrogressive pathological change of the group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve) https://orcid.org/0000-0002-6490-7723 abnormal narrowing or constriction of the passage between the mouth and the posterior nares and the larynx and esophagus narrow pharynx pharyngeal stenosis MPheno.ontology MP:0013174 pharynx stenosis MP:0013174 abnormal narrowing or constriction of the passage between the mouth and the posterior nares and the larynx and esophagus https://orcid.org/0000-0002-6490-7723 the appearance of an abnormal division in the flexible elongated appendage located at the caudal end of the torso in many species split tail MPheno.ontology MP:0013175 bifurcated tail MP:0013175 the appearance of an abnormal division in the flexible elongated appendage located at the caudal end of the torso in many species https://orcid.org/0000-0002-6490-7723 tail is displaced from the normal location and/or does not orient in a typical pattern MPheno.ontology MP:0013176 abnormal tail position or orientation MP:0013176 tail is displaced from the normal location and/or does not orient in a typical pattern https://orcid.org/0000-0002-6490-7723 any structural anomaly of the distal end of the tail MPheno.ontology MP:0013177 abnormal tail tip morphology MP:0013177 any structural anomaly of the distal end of the tail https://orcid.org/0000-0002-6490-7723 morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage necrotic tail MPheno.ontology MP:0013178 tail necrosis MP:0013178 morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage https://orcid.org/0000-0002-6490-7723 undulations or a sinusoidal shape of the tail s-shaped tail undulated tail MPheno.ontology MP:0013179 wavy tail MP:0013179 undulations or a sinusoidal shape of the tail https://orcid.org/0000-0002-6490-7723 shortened tail bud that terminates in a blunt end (instead of a tapered end) short tail bud MPheno.ontology MP:0013180 truncated tail bud MP:0013180 shortened tail bud that terminates in a blunt end (instead of a tapered end) https://orcid.org/0000-0002-6490-7723 absence of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin missing placenta placenta agenesis placental agenesis MPheno.ontology MP:0013181 absent placenta MP:0013181 absence of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin https://orcid.org/0000-0002-6490-7723 increase in the number of cells of the spinal cord undergoing programmed cell death MPheno.ontology MP:0013182 increased spinal cord apoptosis MP:0013182 increase in the number of cells of the spinal cord undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 absence of the group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve) absent Gasserian ganglion absent cranial ganglion V absent semi-lunar ganglion absent semilunar ganglion absent trigeminal ganglia absent trigeminal ganglion of trigeminal (V) nerve trigeminal ganglion agenesis MPheno.ontology MP:0013183 absent trigeminal ganglion MP:0013183 absence of the group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve) https://orcid.org/0000-0002-6490-7723 the presence of bloody or blood-stained serous fluid, frequently resulting from metastatic carcinoma, in the peritoneal cavity bloody ascites haemorrhagic ascites MPheno.ontology MP:0013184 hemorrhagic ascites MP:0013184 the presence of bloody or blood-stained serous fluid, frequently resulting from metastatic carcinoma, in the peritoneal cavity https://orcid.org/0000-0002-6490-7723 absence of the mesendoderm which first migrates from the node and which gives rise to the gut absent ADE MPheno.ontology MP:0013185 absent anterior definitive endoderm MP:0013185 absence of the mesendoderm which first migrates from the node and which gives rise to the gut https://orcid.org/0000-0002-6490-7723 any structural anomaly of the unpaired artery that is formed by the union of the two vertebral arteries, runs forward within the skull just under the pons, divides into the two posterior cerebral arteries, and supplies the pons, cerebellum, posterior part of the cerebrum, and the inner ear MPheno.ontology MP:0013186 abnormal basilar artery morphology MP:0013186 any structural anomaly of the unpaired artery that is formed by the union of the two vertebral arteries, runs forward within the skull just under the pons, divides into the two posterior cerebral arteries, and supplies the pons, cerebellum, posterior part of the cerebrum, and the inner ear https://orcid.org/0000-0002-6490-7723 stretched or widened aperture of the luminal space of the unpaired artery that is formed by the union of the two vertebral arteries, runs forward within the skull just under the pons, divides into the two posterior cerebral arteries, and supplies the pons, cerebellum, posterior part of the cerebrum, and the inner ear basilar artery dilation dilated basilar arteries MPheno.ontology MP:0013187 dilated basilar artery MP:0013187 stretched or widened aperture of the luminal space of the unpaired artery that is formed by the union of the two vertebral arteries, runs forward within the skull just under the pons, divides into the two posterior cerebral arteries, and supplies the pons, cerebellum, posterior part of the cerebrum, and the inner ear https://orcid.org/0000-0002-6490-7723 any anomaly of the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles MPheno.ontology MP:0013188 abnormal gastrocnemius weight MP:0013188 any anomaly of the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles MPD:Molly anomaly in the amount of time spent investigating new location MPheno.ontology MP:0013189 abnormal exploration in a new environment MP:0013189 anomaly in the amount of time spent investigating new location MPD:Molly any anomaly in the number of the holocrine glands that secrete sebum into the hair follicles, or in hairless areas into ducts MPheno.ontology MP:0013190 abnormal sebaceous gland number MP:0013190 any anomaly in the number of the holocrine glands that secrete sebum into the hair follicles, or in hairless areas into ducts https://orcid.org/0000-0002-6490-7723 greater than normal numbers of the holocrine glands that secrete sebum into the hair follicles, or in hairless areas into ducts MPheno.ontology MP:0013191 increased sebaceous gland number MP:0013191 greater than normal numbers of the holocrine glands that secrete sebum into the hair follicles, or in hairless areas into ducts https://orcid.org/0000-0002-6490-7723 fewer than normal numbers of the holocrine glands that secrete sebum into the hair follicles, or in hairless areas into ducts reduced sebaceous gland number MPheno.ontology MP:0013192 decreased sebaceous gland number MP:0013192 fewer than normal numbers of the holocrine glands that secrete sebum into the hair follicles, or in hairless areas into ducts https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the sebaceous gland, typically resulting in decreased size hypoplastic sebaceous gland MPheno.ontology MP:0013193 sebaceous gland hypoplasia MP:0013193 decrease in the number of normal cells in normal arrangement in the sebaceous gland, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 absence of the anterior region of the vertebrate primitive streak which normally gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node MPheno.ontology MP:0013194 absent anterior primitive streak MP:0013194 absence of the anterior region of the vertebrate primitive streak which normally gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node https://orcid.org/0000-0002-6490-7723 anomaly in the establishment of the anterior region of the vertebrate primitive streak which normally gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node MPheno.ontology MP:0013195 abnormal anterior primitive streak formation MP:0013195 anomaly in the establishment of the anterior region of the vertebrate primitive streak which normally gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node https://orcid.org/0000-0002-6490-7723 anomaly in the establishment of the posterior region of the vertebrate primitive streak which gives rise to the extraembryonic mesoderm MPheno.ontology MP:0013196 abnormal posterior primitive streak formation MP:0013196 anomaly in the establishment of the posterior region of the vertebrate primitive streak which gives rise to the extraembryonic mesoderm https://orcid.org/0000-0002-6490-7723 reduced number of the cilia of the mouse embryo found on the cells of the embryonic node decreased embryonic cilia number decreased motile primary cilia number decreased motile primary cilium number decreased nodal primary cilia number decreased nodal primary cilium number reduced embryonic cilia number reduced embryonic cilium number reduced motile primary cilia number reduced motile primary cilium number reduced nodal primary cilia number reduced nodal primary cilium number MPheno.ontology MP:0013197 decreased embryonic cilium number MP:0013197 reduced number of the cilia of the mouse embryo found on the cells of the embryonic node https://orcid.org/0000-0002-6490-7723 absence of the primordial embryonic connective tissue of the developing head, normally consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells absent cephalic mesenchyme absent cranial mesenchyme MPheno.ontology MP:0013198 absent head mesenchyme MP:0013198 absence of the primordial embryonic connective tissue of the developing head, normally consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells https://orcid.org/0000-0002-6490-7723 increase in the number of cells of the head mesenchyme undergoing programmed cell death increased cephalic mesenchyme apoptosis increased cranial mesenchyme apoptosis MPheno.ontology MP:0013199 increased head mesenchyme apoptosis MP:0013199 increase in the number of cells of the head mesenchyme undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the head mesenchyme, typically resulting in decreased size cephalic mesenchyme hypoplasia cranial mesenchyme hypoplasia decreased cephalic mesenchyme cellularity decreased cranial mesenchyme cellularity decreased head mesenchyme cellularity hypoplastic cephalic mesenchyme hypoplastic cranial mesenchyme hypoplastic head mesenchyme MPheno.ontology MP:0013200 head mesenchyme hypoplasia MP:0013200 decrease in the number of normal cells in normal arrangement in the head mesenchyme, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the head mesenchyme, typically resulting in increased size cephalic mesenchyme hyperplasia cranial mesenchyme hyperplasia hyperplastic cephalic mesenchyme hyperplastic cranial mesenchyme hyperplastic head mesenchyme increased cephalic mesenchyme cellularity increased cranial mesenchyme cellularity increased head mesenchyme cellularity MPheno.ontology MP:0013201 head mesenchyme hyperplasia MP:0013201 increase in the number of normal cells in normal arrangement in the head mesenchyme, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface; each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole abnormal eukaryotic flagellum morphology abnormal flagellum morphology MPheno.ontology MP:0013202 abnormal cilium morphology MP:0013202 any structural anomaly of the specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface; each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole GO:0005929 any structural anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors MPheno.ontology MP:0013203 abnormal primary cilium morphology MP:0013203 any structural anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors GO:0072372 any structural anomaly of a primary cilium which may contain a variable array of axonemal microtubules and also contains molecular motors; motile primary cilia display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization MP:0004131 abnormal motile primary cilia morphology abnormal nodal cilia morphology abnormal nodal cilium morphology MPheno.ontology MP:0013204 This term has been determined to be identical to MP:0004131 obsolete abnormal motile primary cilium morphology true MP:0013204 any structural anomaly of a primary cilium which may contain a variable array of axonemal microtubules and also contains molecular motors; motile primary cilia display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization GO:0031512 any structural anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate and organize sensory signaling molecules abnormal immotile primary cilium morphology abnormal nonmotile primary cilia morphology abnormal sensory cilium morphology MPheno.ontology MP:0013205 abnormal nonmotile primary cilium morphology MP:0013205 any structural anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate and organize sensory signaling molecules GO:0031513 any structural anomaly of a cilium which has a variable arrangement of axonemal microtubules, contains molecular motors, and beats with a characteristic whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface; motile cilia are typically found in multiple copies on epithelial cells that line the lumenal ducts of various tissues and may also function as sensory organelles abnormal microtubule-based flagellum morphology abnormal motile cilia morphology abnormal motile secondary cilium morphology MPheno.ontology MP:0013206 abnormal motile cilium morphology MP:0013206 any structural anomaly of a cilium which has a variable arrangement of axonemal microtubules, contains molecular motors, and beats with a characteristic whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface; motile cilia are typically found in multiple copies on epithelial cells that line the lumenal ducts of various tissues and may also function as sensory organelles GO:0031514 absence of the innermost of the three primary germ layers of the embryo (the others being mesoderm and ectoderm) that is formed during gastrulation absent definitive endoderm absent entoderm MPheno.ontology MP:0013207 absent endoderm MP:0013207 absence of the innermost of the three primary germ layers of the embryo (the others being mesoderm and ectoderm) that is formed during gastrulation https://orcid.org/0000-0002-6490-7723 any functional anomaly of the specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface; each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole abnormal eukaryotic flagellum physiology abnormal flagellum physiology MPheno.ontology MP:0013208 abnormal cilium physiology MP:0013208 any functional anomaly of the specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface; each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole GO:0005929 any functional anomaly of a cilium which has a variable arrangement of axonemal microtubules, contains molecular motors, and beats with a characteristic whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface; motile cilia are typically found in multiple copies on epithelial cells that line the lumenal ducts of various tissues and may also function as sensory organelles abnormal microtubule-based flagellum physiology abnormal motile cilia physiology abnormal motile secondary cilium physiology MPheno.ontology MP:0013209 abnormal motile cilium physiology MP:0013209 any functional anomaly of a cilium which has a variable arrangement of axonemal microtubules, contains molecular motors, and beats with a characteristic whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface; motile cilia are typically found in multiple copies on epithelial cells that line the lumenal ducts of various tissues and may also function as sensory organelles GO:0031514 any functional anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors MPheno.ontology MP:0013210 abnormal primary cilium physiology MP:0013210 any functional anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors GO:0072372 any functional anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate and organize sensory signaling molecules abnormal immotile primary cilium physiology abnormal nonmotile primary cilia physiology abnormal sensory cilium physiology MPheno.ontology MP:0013211 abnormal nonmotile primary cilium physiology MP:0013211 any functional anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate and organize sensory signaling molecules GO:0031513 any functional anomaly of a primary cilium which may contain a variable array of axonemal microtubules and also contains molecular motors; motile primary cilia display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization MP:0008933 abnormal motile primary cilia physiology abnormal nodal cilia physiology abnormal nodal cilium physiology MPheno.ontology MP:0013212 This term has been determined to be identical to MP:0008933. obsolete abnormal motile primary cilium physiology true MP:0013212 any functional anomaly of a primary cilium which may contain a variable array of axonemal microtubules and also contains molecular motors; motile primary cilia display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization GO:0031512 any structural anomaly of the primary non-motile microtubule-based structures of the embryonic neuroepithelium which are typically short and straight, project apically into the neural tube lumen, and play an essential role in Sonic hedgehog (Shh) signalling and neural tube patterning abnormal embryonic neural ectoderm cilium morphology abnormal embryonic neuroectoderm cilium morphology abnormal neural tube cilia abnormal neural tube cilium morphology MPheno.ontology MP:0013213 abnormal embryonic neuroepithelium primary cilium morphology MP:0013213 any structural anomaly of the primary non-motile microtubule-based structures of the embryonic neuroepithelium which are typically short and straight, project apically into the neural tube lumen, and play an essential role in Sonic hedgehog (Shh) signalling and neural tube patterning PMID:23351466 reduced number of the primary non-motile microtubule-based structures of the embryonic neuroepithelium which are typically short and straight, project apically into the neural tube lumen, and play an essential role in Sonic hedgehog (Shh) signalling and neural tube patterning decreased embryonic neural ectoderm cilium number decreased embryonic neuroectoderm cilium number decreased neural tube cilium number MPheno.ontology MP:0013214 decreased embryonic neuroepithelium primary cilium number MP:0013214 reduced number of the primary non-motile microtubule-based structures of the embryonic neuroepithelium which are typically short and straight, project apically into the neural tube lumen, and play an essential role in Sonic hedgehog (Shh) signalling and neural tube patterning PMID:23351466 anomaly in the amount of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity MPheno.ontology MP:0013215 abnormal haptoglobin level MP:0013215 anomaly in the amount of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity https://orcid.org/0000-0001-5208-3432 absence of the outer of the three primary germ layers of the embryo (the others being mesoderm and endoderm) that originates in the epiblast and is formed during gastrulation absence of ectoderm failure of ectoderm formation MPheno.ontology MP:0013216 absent ectoderm MP:0013216 absence of the outer of the three primary germ layers of the embryo (the others being mesoderm and endoderm) that originates in the epiblast and is formed during gastrulation https://orcid.org/0000-0002-6490-7723 any structural anomaly of the posterior region of the definitive endoderm which evolves into the midgut and hindgut, which will eventually differentiate into the large and small intestine MPheno.ontology MP:0013217 abnormal posterior definitive endoderm morphology MP:0013217 any structural anomaly of the posterior region of the definitive endoderm which evolves into the midgut and hindgut, which will eventually differentiate into the large and small intestine PMID:0080555950 any structural anomaly of the anterior (ventral) part of grey matter of the substantia nigra which contains smaller and loosely packed cells than the pars compacta, only some of which contain a small amount of pigment; the cells of pars reticulata bear a strong structural and functional resemblance to the inner segment of the globus pallidus; many cells in this region use GABA as a neurotransmitter abnormal SNPR morphology abnormal pars reticularis substantiae nigrae morphology abnormal reticular part of substantia nigra abnormal substantia nigra pars reticularis morphology MPheno.ontology MP:0013218 abnormal substantia nigra pars reticulata morphology MP:0013218 any structural anomaly of the anterior (ventral) part of grey matter of the substantia nigra which contains smaller and loosely packed cells than the pars compacta, only some of which contain a small amount of pigment; the cells of pars reticulata bear a strong structural and functional resemblance to the inner segment of the globus pallidus; many cells in this region use GABA as a neurotransmitter https://orcid.org/0000-0002-6490-7723 any structural anomaly of the posterior (dorsal) part of grey matter of the substantia nigra which contains large, polygonal, and densely packed dopamine-producing cells; pars compacta neurons are pigmented in many species abnormal SNPC morphology abnormal compact part of substantia nigra abnormal pars compacta substantiae nigrae morphology MPheno.ontology MP:0013219 abnormal substantia nigra pars compacta morphology MP:0013219 any structural anomaly of the posterior (dorsal) part of grey matter of the substantia nigra which contains large, polygonal, and densely packed dopamine-producing cells; pars compacta neurons are pigmented in many species https://orcid.org/0000-0002-6490-7723 increase in the number of cells of the pancreas undergoing programmed cell death increased pancreatic apoptosis MPheno.ontology MP:0013220 increased pancreas apoptosis MP:0013220 increase in the number of cells of the pancreas undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 a reprogramming event that induces transdifferentiation of pancreatic acinar cells to a duct-like phenotype in response to inflammatory injury; ADM is associated with an increased risk of exocrine pancreatic cancer and is considered a precursor of pancreatic ductal adenocarcinoma pancreatic ADM MPheno.ontology MP:0013221 pancreatic acinar-to-ductal metaplasia MP:0013221 a reprogramming event that induces transdifferentiation of pancreatic acinar cells to a duct-like phenotype in response to inflammatory injury; ADM is associated with an increased risk of exocrine pancreatic cancer and is considered a precursor of pancreatic ductal adenocarcinoma https://orcid.org/0000-0002-6490-7723 any structural anomaly of the first endodermal branchial pouch located between the first and second branchial arches; in mammals, the first pouch elongates to form a diverticulum known as the tubotympanic recess; the distal portion of this recess expands to reach the first branchial groove and form the middle ear cavity (aka tympanic cavity) and mastoid antrum; its proximal part remains tubular and forms the auditory tube (aka Eustachian or pharyngotympanic tube), which forms a communication between the nasopharynx and tympanic cavity abnormal 1st branchial pouch morphology abnormal 1st pharyngeal pouch morphology abnormal first branchial pouch morphology MPheno.ontology MP:0013222 abnormal first pharyngeal pouch morphology MP:0013222 any structural anomaly of the first endodermal branchial pouch located between the first and second branchial arches; in mammals, the first pouch elongates to form a diverticulum known as the tubotympanic recess; the distal portion of this recess expands to reach the first branchial groove and form the middle ear cavity (aka tympanic cavity) and mastoid antrum; its proximal part remains tubular and forms the auditory tube (aka Eustachian or pharyngotympanic tube), which forms a communication between the nasopharynx and tympanic cavity http://discovery.lifemapsc.com/library/review-of-medical-embryology/chapter-50-the-pharyngeal-clefts-and-pouches https://www.inkling.com/read/before-we-are-born-moore-persaud-torchia-8th/chapter-10/pharyngeal-pouches any structural anomaly of the second branchial pouch located between the second and third branchial arches; the dorsal elongation of the second pouch endoderm of all mammals, with the exception of rodents, gives rise to the epithelial lining of palatine tonsils; in rodents, the ventral portion of the second pouch appears to degenerate whereas the remaining part is incorporated into the lateral border of the pharynx; it appears that rodents no longer require tonsils as their function is carried out by the NALT (Nose/Nasal-Associated Lymphoid Tissue) system in the upper respiratory tract abnormal 2nd branchial pouch morphology abnormal 2nd pharyngeal pouch morphology abnormal second branchial pouch morphology MPheno.ontology MP:0013223 abnormal second pharyngeal pouch morphology MP:0013223 any structural anomaly of the second branchial pouch located between the second and third branchial arches; the dorsal elongation of the second pouch endoderm of all mammals, with the exception of rodents, gives rise to the epithelial lining of palatine tonsils; in rodents, the ventral portion of the second pouch appears to degenerate whereas the remaining part is incorporated into the lateral border of the pharynx; it appears that rodents no longer require tonsils as their function is carried out by the NALT (Nose/Nasal-Associated Lymphoid Tissue) system in the upper respiratory tract PMID:20144910 absence of the second branchial pouch, normally located between the second and third branchial arches; the dorsal elongation of the second pouch endoderm of all mammals, with the exception of rodents, gives rise to the epithelial lining of palatine tonsils absent 2nd branchial pouch absent 2nd pharyngeal pouch absent second branchial pouch MPheno.ontology MP:0013224 absent second pharyngeal pouch MP:0013224 absence of the second branchial pouch, normally located between the second and third branchial arches; the dorsal elongation of the second pouch endoderm of all mammals, with the exception of rodents, gives rise to the epithelial lining of palatine tonsils PMID:20144910 any structural anomaly of the third endodermal branchial pouch located between the third and fourth branchial arches; in mammals, the cranial dorsal aspect of the third pouch generates the inferior parathyroids (or parathyroid III), whereas the caudal ventral part of the pouch gives rise to the thymus epithelium abnormal 3rd branchial pouch morphology abnormal 3rd pharyngeal pouch morphology abnormal third branchial pouch morphology MPheno.ontology MP:0013225 abnormal third pharyngeal pouch morphology MP:0013225 any structural anomaly of the third endodermal branchial pouch located between the third and fourth branchial arches; in mammals, the cranial dorsal aspect of the third pouch generates the inferior parathyroids (or parathyroid III), whereas the caudal ventral part of the pouch gives rise to the thymus epithelium PMID:20144910 absence of the third endodermal branchial pouch, normally located between the third and fourth branchial arches; in mammals, the cranial dorsal aspect of the third pouch generates the inferior parathyroids (or parathyroid III), whereas the caudal ventral part of the pouch gives rise to the thymus epithelium absent 3rd branchial pouch absent 3rd pharyngeal pouch absent third branchial pouch MPheno.ontology MP:0013226 absent third pharyngeal pouch MP:0013226 absence of the third endodermal branchial pouch, normally located between the third and fourth branchial arches; in mammals, the cranial dorsal aspect of the third pouch generates the inferior parathyroids (or parathyroid III), whereas the caudal ventral part of the pouch gives rise to the thymus epithelium PMID:20144910 decreased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord decreased brain ventricle size decreased cerebral ventricle size reduced brain ventricle size reduced cerebral ventricle size small cerebral ventricles MPheno.ontology MP:0013227 small brain ventricles MP:0013227 decreased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord https://orcid.org/0000-0002-6490-7723 abnormal narrowing or constriction of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord cerebral ventricle stenosis MPheno.ontology ventricular stenosis MP:0013228 brain ventricle stenosis MP:0013228 abnormal narrowing or constriction of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord https://orcid.org/0000-0002-6490-7723 any anomaly in the size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord abnormal cerebral ventricle size MPheno.ontology MP:0013229 abnormal brain ventricle size MP:0013229 any anomaly in the size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord https://orcid.org/0000-0003-4606-0597 any structural anomaly of the temporary triangular depression found in the nuchal region caudal to the second (hyoid) branchial arch, and containing the succeeding branchial arches and grooves; the sinus is overgrown by the second branchial arch and is ultimately obliterated during extension of the cervical flexure abnormal cervical sinus of His morphology abnormal sinus cervicalis morphology MPheno.ontology MP:0013230 abnormal cervical sinus morphology MP:0013230 any structural anomaly of the temporary triangular depression found in the nuchal region caudal to the second (hyoid) branchial arch, and containing the succeeding branchial arches and grooves; the sinus is overgrown by the second branchial arch and is ultimately obliterated during extension of the cervical flexure https://orcid.org/0000-0002-6490-7723 any structural anomaly of the ectodermally lined depressions (grooves or clefts) that separate the branchial arches externally on each side; only the first of the four pairs of branchial grooves persists in the adult to form the epithelium of the external auditory meatus and part of the tympanic membrane; the second, third, and fourth grooves are overlapped by the development of branchial arch 2 and form a slit-like depression known as the cervical sinus which is ultimately obliterated by the fusion of its walls during extension of the cervical flexure abnormal branchial cleft morphology abnormal branchial groove morphology abnormal pharyngeal cleft morphology MPheno.ontology MP:0013231 abnormal pharyngeal groove morphology MP:0013231 any structural anomaly of the ectodermally lined depressions (grooves or clefts) that separate the branchial arches externally on each side; only the first of the four pairs of branchial grooves persists in the adult to form the epithelium of the external auditory meatus and part of the tympanic membrane; the second, third, and fourth grooves are overlapped by the development of branchial arch 2 and form a slit-like depression known as the cervical sinus which is ultimately obliterated by the fusion of its walls during extension of the cervical flexure PMID:20144910 http://discovery.lifemapsc.com/library/review-of-medical-embryology/chapter-50-the-pharyngeal-clefts-and-pouches any structural anomaly of any of the four membranes that separate the branchial pouches from the corresponding branchial grooves in a developing embryo; each membrane is initially composed of an inner layer formed by the endodermal lining of a branchial pouch and an outer layer formed by the ectodermal lining of the branchial groove; later, these two layers become separated by a thin layer of mesoderm; only the first branchial membrane contributes to the formation of an adult structure, i.e. the tympanic membrane (aka eardrum); the second, third, and fourth membranes are obliterated abnormal branchial arch membrane morphology abnormal branchial membrane morphology MPheno.ontology abnormal pharyngeal membrane morphology MP:0013232 abnormal pharyngeal membrane morphology MP:0013232 any structural anomaly of any of the four membranes that separate the branchial pouches from the corresponding branchial grooves in a developing embryo; each membrane is initially composed of an inner layer formed by the endodermal lining of a branchial pouch and an outer layer formed by the ectodermal lining of the branchial groove; later, these two layers become separated by a thin layer of mesoderm; only the first branchial membrane contributes to the formation of an adult structure, i.e. the tympanic membrane (aka eardrum); the second, third, and fourth membranes are obliterated http://www.slideshare.net/ElsevierIndia/vishram-singh-chapter10 https://orcid.org/0000-0002-6490-7723 a thyroid gland located outside of its normal position anterior to the laryngeal cartilages; usually due to abnormal migration of the thyroid diverticulum down from the foramen cecum at the posterior aspect of the tongue to its permanent pre-tracheal location; ectopic thyroid tissue is frequently found along the course of the thyroglossal duct or laterally in the neck, as well as in distant places such as the mediastinum and the subdiaphragmatic organs; the most common ectopic location is near its embryological origin at the foramen caecum, resulting in a lingual thyroid ectopic thyroid thyroid ectopy MPheno.ontology MP:0013233 ectopic thyroid gland MP:0013233 a thyroid gland located outside of its normal position anterior to the laryngeal cartilages; usually due to abnormal migration of the thyroid diverticulum down from the foramen cecum at the posterior aspect of the tongue to its permanent pre-tracheal location; ectopic thyroid tissue is frequently found along the course of the thyroglossal duct or laterally in the neck, as well as in distant places such as the mediastinum and the subdiaphragmatic organs; the most common ectopic location is near its embryological origin at the foramen caecum, resulting in a lingual thyroid https://orcid.org/0000-0002-6490-7723 any structural anomaly of the median pit on the dorsum of the posterior part of the tongue, from which the limbs of a V-shaped furrow run forward and outward; the foramen cecum is the point of attachment of the thyroglossal duct and is formed during the embryological descent of the thyroid gland abnormal Morgagni foramen1 morphology abnormal blind foramen of the tongue moprhology abnormal cecal foramen of the tongue morphology abnormal ductus lingualis morphology abnormal foramen cecum linguae morphology MPheno.ontology MP:0013234 abnormal tongue foramen cecum morphology MP:0013234 any structural anomaly of the median pit on the dorsum of the posterior part of the tongue, from which the limbs of a V-shaped furrow run forward and outward; the foramen cecum is the point of attachment of the thyroglossal duct and is formed during the embryological descent of the thyroid gland https://orcid.org/0000-0002-6490-7723 any structural anomaly of the embryological anatomical structure that forms an open connection between the initial area of development of the thyroid gland and its final position; it is located exactly midline, between the anterior 2/3rds and posterior 1/3rd of the tongue; this duct normally atrophies and closes off as the foramen cecum before birth abnormal ductus thyroglossus morphology abnormal thyrolingual duct morphology MPheno.ontology MP:0013235 abnormal thyroglossal duct morphology MP:0013235 any structural anomaly of the embryological anatomical structure that forms an open connection between the initial area of development of the thyroid gland and its final position; it is located exactly midline, between the anterior 2/3rds and posterior 1/3rd of the tongue; this duct normally atrophies and closes off as the foramen cecum before birth https://orcid.org/0000-0002-6490-7723 a retrogressive impairment of function or destruction of one or both ovaries ovarian degeneration MPheno.ontology MP:0013236 ovary degeneration MP:0013236 a retrogressive impairment of function or destruction of one or both ovaries https://orcid.org/0000-0002-6490-7723 anomaly in the renewal, repair, and/or regrowth of skeletal muscle tissue following injury or disease MPheno.ontology MP:0013237 abnormal skeletal muscle regeneration MP:0013237 anomaly in the renewal, repair, and/or regrowth of skeletal muscle tissue following injury or disease https://orcid.org/0000-0002-6490-7723 anomaly in the renewal, repair, and/or regrowth of cardiac muscle tissue following injury or disease abnormal heart muscle regeneration MPheno.ontology MP:0013238 abnormal cardiac muscle regeneration MP:0013238 anomaly in the renewal, repair, and/or regrowth of cardiac muscle tissue following injury or disease https://orcid.org/0000-0002-6490-7723 decrease in the renewal, repair, and/or regrowth of skeletal muscle tissue following injury or disease decreased skeletal muscle regeneration reduced skeletal muscle regeneration MPheno.ontology MP:0013239 impaired skeletal muscle regeneration MP:0013239 decrease in the renewal, repair, and/or regrowth of skeletal muscle tissue following injury or disease https://orcid.org/0000-0002-6490-7723 decrease in the renewal, repair, and/or regrowth of cardiac muscle tissue following injury or disease decreased cardiac muscle regeneration decreased heart muscle regeneration reduced cardiac muscle regeneration reduced heart muscle regeneration MPheno.ontology MP:0013240 impaired cardiac muscle regeneration MP:0013240 decrease in the renewal, repair, and/or regrowth of cardiac muscle tissue following injury or disease https://orcid.org/0000-0002-6490-7723 morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage embryonic tissue necrosis necrotic embryo necrotic embryo tissue necrotic embryonic tissue MPheno.ontology MP:0013241 embryo tissue necrosis MP:0013241 morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage https://orcid.org/0000-0003-3691-0324 any anomaly in the chemical reactions and pathways involving an amino acid, including metabolic, catabolic and biosynthetic processes MPheno.ontology MP:0013242 abnormal amino acid metabolism MP:0013242 any anomaly in the chemical reactions and pathways involving an amino acid, including metabolic, catabolic and biosynthetic processes MPD:Molly any anomaly in the chemical reactions and pathways involving a carbohydrate, including metabolic, catabolic and biosynthetic processes MPheno.ontology MP:0013243 abnormal carbohydrate metabolism MP:0013243 any anomaly in the chemical reactions and pathways involving a carbohydrate, including metabolic, catabolic and biosynthetic processes MPD:Molly any anomaly in the chemical reactions and pathways involving a vitamin, including metabolic, catabolic and biosynthetic processes MPheno.ontology MP:0013244 abnormal vitamin metabolism MP:0013244 any anomaly in the chemical reactions and pathways involving a vitamin, including metabolic, catabolic and biosynthetic processes MPD:Molly any anomaly in the chemical reactions and pathways involving a lipid, including metabolic, catabolic and biosynthetic processes MPheno.ontology MP:0013245 abnormal lipid metabolism MP:0013245 any anomaly in the chemical reactions and pathways involving a lipid, including metabolic, catabolic and biosynthetic processes MPD:Molly any anomaly in the chemical reactions and pathways involving a peptide, including metabolic, catabolic and biosynthetic processes MPheno.ontology MP:0013246 abnormal peptide metabolism MP:0013246 any anomaly in the chemical reactions and pathways involving a peptide, including metabolic, catabolic and biosynthetic processes MPD:Molly morphological changes resulting from pathological death of placenta tissue; usually due to irreversible damage necrotic placenta placental necrosis MPheno.ontology MP:0013247 placenta necrosis MP:0013247 morphological changes resulting from pathological death of placenta tissue; usually due to irreversible damage https://orcid.org/0000-0003-3691-0324 morphological changes resulting from pathological death of placenta junctional zone tissue; usually due to irreversible damage necrotic placenta junctional zone necrotic placental junctional zone placental junctional zone necrosis MPheno.ontology MP:0013248 placenta junctional zone necrosis MP:0013248 morphological changes resulting from pathological death of placenta junctional zone tissue; usually due to irreversible damage https://orcid.org/0000-0003-3691-0324 morphological changes resulting from pathological death of adipose tissue; usually due to irreversible damage necrotic adipose tissue MPheno.ontology MP:0013249 adipose tissue necrosis MP:0013249 morphological changes resulting from pathological death of adipose tissue; usually due to irreversible damage https://orcid.org/0000-0003-3691-0324 any structural anomaly of the soft tissue within the pulp cavity located in the center of a tooth, comprised of living connective tissue containing blood vessels, nerves and lymphatics, and a layer of odontoblasts at the periphery, which participate in dentin repair abnormal dentinal pulp morphology abnormal tooth pulp morphology MPheno.ontology MP:0013250 abnormal dental pulp morphology MP:0013250 any structural anomaly of the soft tissue within the pulp cavity located in the center of a tooth, comprised of living connective tissue containing blood vessels, nerves and lymphatics, and a layer of odontoblasts at the periphery, which participate in dentin repair ISBN:068340007X https://orcid.org/0000-0003-3691-0324 morphological changes resulting from pathological death of dental pulp tissue; usually due to irreversible damage dentinal pulp necrosis necrotic dental pulp necrotic tooth pulp tooth pulp necrosis MPheno.ontology MP:0013251 dental pulp necrosis MP:0013251 morphological changes resulting from pathological death of dental pulp tissue; usually due to irreversible damage https://orcid.org/0000-0003-3691-0324 morphological changes resulting from pathological death of head mesenchyme tissue; usually due to irreversible damage cephalic mesenchyme necrosis necrotic cephalic mesenchyme MPheno.ontology cranial mesenchyme necrosis necrotic cranial mesenchyme MP:0013252 head mesenchyme necrosis MP:0013252 morphological changes resulting from pathological death of head mesenchyme tissue; usually due to irreversible damage https://orcid.org/0000-0003-3691-0324 morphological changes resulting from pathological death of outer ear tissue; usually due to irreversible damage external ear necrosis necrotic external ear necrotic external ears necrotic outer ear necrotic outer ears necrotic pinna necrotic pinnae pinna necrosis pinnae necrosis MPheno.ontology MP:0013253 outer ear necrosis MP:0013253 morphological changes resulting from pathological death of outer ear tissue; usually due to irreversible damage https://orcid.org/0000-0003-3691-0324 altered activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin abnormal ACE activity MPheno.ontology MP:0013254 abnormal angiotensin I-converting enzyme activity MP:0013254 altered activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin RGD:cur anomaly in the blood level of the a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions; it is generated from regulated proteolytic cleavage of prothrobmin during the coagulation cascade MPheno.ontology MP:0013255 abnormal circulating thrombin level MP:0013255 anomaly in the blood level of the a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions; it is generated from regulated proteolytic cleavage of prothrobmin during the coagulation cascade https://orcid.org/0000-0003-3691-0324 increased blood level of the a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions; it is generated from regulated proteolytic cleavage of prothrobmin during the coagulation cascade MPheno.ontology MP:0013256 increased circulating thrombin level MP:0013256 increased blood level of the a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions; it is generated from regulated proteolytic cleavage of prothrobmin during the coagulation cascade https://orcid.org/0000-0003-3691-0324 reduction in the blood level of the a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions; it is generated from regulated proteolytic cleavage of prothrobmin during the coagulation cascade MPheno.ontology MP:0013257 decreased circulating thrombin level MP:0013257 reduction in the blood level of the a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions; it is generated from regulated proteolytic cleavage of prothrobmin during the coagulation cascade https://orcid.org/0000-0003-3691-0324 any structural anomaly of the structure lying external to one or more cells, which provides structural support for cells or tissues; in mammals, the extracellular matrix is completely external to the cell MPheno.ontology MP:0013258 abnormal extracellular matrix morphology MP:0013258 any structural anomaly of the structure lying external to one or more cells, which provides structural support for cells or tissues; in mammals, the extracellular matrix is completely external to the cell GO:0031012 change in the timing or the number of dendritic cells undergoing programmed cell death MPheno.ontology MP:0013259 abnormal dendritic cell apoptosis MP:0013259 change in the timing or the number of dendritic cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 reduction in the timing or the number of dendritic cells undergoing programmed cell death MPheno.ontology MP:0013260 decreased dendritic cell apoptosis MP:0013260 reduction in the timing or the number of dendritic cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 missing the most superior of the laryngeal cartilages, which normally is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink epiglottis aplasia MPheno.ontology MP:0013261 absent epiglottis MP:0013261 missing the most superior of the laryngeal cartilages, which normally is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink MIG:anna any structural morphology of the ventral area of the mouth; in organisms with a tongue, a small horseshoe-shaped region situated beneath the movable part of the tongue and above the muscular diaphragm formed by the mylohyoid muscles; a median fold of mucous membrane, the lingual frenulum, connects the inferior surface of the tongue to the floor of the mouth abnormal floor of the oral cavity MPheno.ontology MP:0013262 abnormal mouth floor morphology MP:0013262 any structural morphology of the ventral area of the mouth; in organisms with a tongue, a small horseshoe-shaped region situated beneath the movable part of the tongue and above the muscular diaphragm formed by the mylohyoid muscles; a median fold of mucous membrane, the lingual frenulum, connects the inferior surface of the tongue to the floor of the mouth https://orcid.org/0000-0002-6490-7723 any structural anomaly of the small fold of mucous membrane extending from the floor of the mouth to the midline of the underside of the tongue abnormal frenulum linguae morphology abnormal lingual frenulum morphology abnormal tongue frenum morphology MPheno.ontology MP:0013263 abnormal tongue frenulum morphology MP:0013263 any structural anomaly of the small fold of mucous membrane extending from the floor of the mouth to the midline of the underside of the tongue https://orcid.org/0000-0002-6490-7723 partial or complete fusion or adherence of the tongue to the floor of the mouth, resulting in varying degrees of restricted tongue mobility; partial ankyloglossia (aka tongue-tie) is caused by a lingual frenulum that is abnormally short or is attached too close to the tip of the tongue; in complete ankyloglossia the tongue is tethered to the floor of the mouth ankyloglossia ankylosis of the tongue lingual ankylosis tongue-tie MPheno.ontology MP:0013264 tongue ankylosis MP:0013264 partial or complete fusion or adherence of the tongue to the floor of the mouth, resulting in varying degrees of restricted tongue mobility; partial ankyloglossia (aka tongue-tie) is caused by a lingual frenulum that is abnormally short or is attached too close to the tip of the tongue; in complete ankyloglossia the tongue is tethered to the floor of the mouth https://orcid.org/0000-0002-6490-7723 any structural anomaly of the fourth endodermal branchial pouch located between the fourth and sixth branchial arches (a fifth arch never establishes itself in amniotes); in most mammals, excluding rodents, the dorsal part of each fourth pouch develops into a superior parathyroid gland (parathyroid IV), which lies on the dorsal surface of the thyroid gland (the parathyroid glands derived from the third pouches descend with the thymus and are carried to a more inferior position than the parathyroid glands that are derived from the fourth pouches); the elongated ventral part of each fourth pouch develops into the ultimopharyngeal body, which fuses with the thyroid gland, giving rise to the calcitonin-producing parafollicular or C-cells of the thyroid gland abnormal 4th branchial pouch morphology abnormal 4th pharyngeal pouch morphology abnormal fourth branchial pouch morphology MPheno.ontology MP:0013265 abnormal fourth pharyngeal pouch morphology MP:0013265 any structural anomaly of the fourth endodermal branchial pouch located between the fourth and sixth branchial arches (a fifth arch never establishes itself in amniotes); in most mammals, excluding rodents, the dorsal part of each fourth pouch develops into a superior parathyroid gland (parathyroid IV), which lies on the dorsal surface of the thyroid gland (the parathyroid glands derived from the third pouches descend with the thymus and are carried to a more inferior position than the parathyroid glands that are derived from the fourth pouches); the elongated ventral part of each fourth pouch develops into the ultimopharyngeal body, which fuses with the thyroid gland, giving rise to the calcitonin-producing parafollicular or C-cells of the thyroid gland PMID:20144910 https://orcid.org/0000-0002-6490-7723 absence of the fourth endodermal branchial pouch, normally located between the fourth and sixth branchial arches (a fifth arch never establishes itself in amniotes); in most mammals, excluding rodents, the dorsal part of each fourth pouch develops into a superior parathyroid gland (parathyroid IV), which lies on the dorsal surface of the thyroid gland; the elongated ventral part of each fourth pouch develops into the ultimopharyngeal body, which fuses with the thyroid gland, giving rise to the calcitonin-producing parafollicular or C-cells of the thyroid gland absent 4th branchial pouch absent 4th pharyngeal pouch absent fourth branchial pouch MPheno.ontology MP:0013266 absent fourth pharynegal pouch MP:0013266 absence of the fourth endodermal branchial pouch, normally located between the fourth and sixth branchial arches (a fifth arch never establishes itself in amniotes); in most mammals, excluding rodents, the dorsal part of each fourth pouch develops into a superior parathyroid gland (parathyroid IV), which lies on the dorsal surface of the thyroid gland; the elongated ventral part of each fourth pouch develops into the ultimopharyngeal body, which fuses with the thyroid gland, giving rise to the calcitonin-producing parafollicular or C-cells of the thyroid gland PMID:20144910 https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the first pharyngeal arch, typically resulting in decreased size first branchial arch hypoplasia hypoplastic first pharyngeal arch MPheno.ontology MP:0013267 first pharyngeal arch hypoplasia MP:0013267 decrease in the number of normal cells in normal arrangement in the first pharyngeal arch, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the second pharyngeal arch, typically resulting in decreased size hypoplastic second pharyngeal arch second branchial arch hypoplasia MPheno.ontology MP:0013268 second pharyngeal arch hypoplasia MP:0013268 decrease in the number of normal cells in normal arrangement in the second pharyngeal arch, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the third pharyngeal arch, typically resulting in decreased size hypoplastic third pharyngeal arch third branchial arch hypoplasia MPheno.ontology MP:0013269 third pharyngeal arch hypoplasia MP:0013269 decrease in the number of normal cells in normal arrangement in the third pharyngeal arch, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the fourth pharyngeal arch, typically resulting in decreased size fourth branchial arch hypoplasia hypoplastic fourth pharyngeal arch MPheno.ontology MP:0013270 fourth pharyngeal arch hypoplasia MP:0013270 decrease in the number of normal cells in normal arrangement in the fourth pharyngeal arch, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the sixth pharyngeal arch, typically resulting in decreased size hypoplastic sixth pharyngeal arch sixth branchial arch hypoplasia MPheno.ontology MP:0013271 sixth pharyngeal arch hypoplasia MP:0013271 decrease in the number of normal cells in normal arrangement in the sixth pharyngeal arch, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any anomaly in the cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA molecule to specify the sequence of amino acids in a polypeptide chain; translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA; translation ends with the release of a polypeptide chain from the ribosome abnormal protein anabolism abnormal protein biosynthesis abnormal protein biosynthetic process abnormal protein formation abnormal protein synthesis abnormal protein translation MPheno.ontology MP:0013272 abnormal translation MP:0013272 any anomaly in the cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA molecule to specify the sequence of amino acids in a polypeptide chain; translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA; translation ends with the release of a polypeptide chain from the ribosome GO:0006412 any anomaly in the process of successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis abnormal protein synthesis elongation abnormal translation elongation MPheno.ontology MP:0013273 abnormal translational elongation MP:0013273 any anomaly in the process of successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis GO:0006414 any anomaly in the chemical reactions and pathways involving a vitamin or cofactor, including metabolic, catabolic and biosynthetic processes MPheno.ontology MP:0013274 abnormal vitamin or vitamin cofactor metabolism MP:0013274 any anomaly in the chemical reactions and pathways involving a vitamin or cofactor, including metabolic, catabolic and biosynthetic processes MPD:Molly any anomaly in the chemical reactions and pathways involving a xenobiotic, including metabolic, catabolic and biosynthetic processes MPheno.ontology MP:0013275 abnormal xenobiotic metabolism MP:0013275 any anomaly in the chemical reactions and pathways involving a xenobiotic, including metabolic, catabolic and biosynthetic processes MPD:Molly absence of the lymphocytes that are responsible for cell-mediated immunity and immune system regulation and express an alpha-beta T cell receptor complex MPheno.ontology MP:0013276 absent alpha-beta T cells MP:0013276 absence of the lymphocytes that are responsible for cell-mediated immunity and immune system regulation and express an alpha-beta T cell receptor complex CL:0000789 any anomaly in the amount of glucose in the blood at some defined time point after eating compared to controls abnormal fasting glucose level abnormal fasted circulating glucose level MPheno.ontology MP:0013277 abnormal fasting circulating glucose level MP:0013277 any anomaly in the amount of glucose in the blood at some defined time point after eating compared to controls https://orcid.org/0000-0002-2871-1985 reduction in the amount of glucose in the blood at some defined time point after eating compared to controls decreased fasted circulating glucose level reduced fasted circulating glucose level reduced fasting circulating glucose level MPheno.ontology MP:0013278 decreased fasting circulating glucose level MP:0013278 reduction in the amount of glucose in the blood at some defined time point after eating compared to controls https://orcid.org/0000-0002-2871-1985 increase in the amount of glucose in the blood at some defined time point after eating compared to controls increased fasted circulating glucose level MPheno.ontology MP:0013279 increased fasting circulating glucose level MP:0013279 increase in the amount of glucose in the blood at some defined time point after eating compared to controls https://orcid.org/0000-0002-2871-1985 altered ability of cytotoxic T cells to induce pathological breakdown of target cells by the destruction of their outer membrane MPheno.ontology MP:0013280 abnormal cytotoxic T cell cytolysis MP:0013280 altered ability of cytotoxic T cells to induce pathological breakdown of target cells by the destruction of their outer membrane https://orcid.org/0000-0003-3691-0324 increased ability of cytotoxic T cells to induce pathological breakdown of target cells MPheno.ontology MP:0013281 increased cytotoxic T cell cytolysis MP:0013281 increased ability of cytotoxic T cells to induce pathological breakdown of target cells https://orcid.org/0000-0003-3691-0324 a herniation of the urinary bladder through an anterior abdominal wall defect; refers to congenital absence of a portion of the lower anterior abdominal wall and the anterior urinary bladder wall, with eversion of the posterior bladder wall through the defect, an open pubic arch, and widely separated ischia connected by a fibrous band ectopia vesicae everted urinary bladder exposed urinary bladder MPheno.ontology MP:0013282 urinary bladder exstrophy MP:0013282 a herniation of the urinary bladder through an anterior abdominal wall defect; refers to congenital absence of a portion of the lower anterior abdominal wall and the anterior urinary bladder wall, with eversion of the posterior bladder wall through the defect, an open pubic arch, and widely separated ischia connected by a fibrous band PMID:17079275 http://medical-dictionary.thefreedictionary.com/exstrophy+of+the+bladder https://orcid.org/0000-0002-6490-7723 failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the head and tail folds that cause the embryo to curve into the fetal position and is complete except in the region of the connecting stalk (future umbilical cord); if closure fails, ventral body wall defects occur in the thorax, abdomen, and pelvis and involve the heart (ectopia cordis), abdominal viscera (gastroschisis), and/or urogenital organs (bladder or cloacal exstrophy), depending upon the location and size of the abnormality open ventral body wall MPheno.ontology MP:0013283 failure of ventral body wall closure MP:0013283 failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the head and tail folds that cause the embryo to curve into the fetal position and is complete except in the region of the connecting stalk (future umbilical cord); if closure fails, ventral body wall defects occur in the thorax, abdomen, and pelvis and involve the heart (ectopia cordis), abdominal viscera (gastroschisis), and/or urogenital organs (bladder or cloacal exstrophy), depending upon the location and size of the abnormality http://www.nbdpn.org/current/2008pdf/AMPresentations/EmbryologySadler.pdf https://orcid.org/0000-0002-6490-7723 https://www.inkling.com/read/langmans-medical-embryology-thomas-sadler-12th/chapter-7/ch07-clinical-correlates-01 anomaly in the process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells MPheno.ontology MP:0013284 abnormal renal glomerular filtration MP:0013284 anomaly in the process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells GO:0003094 any anomaly in the renal system process in which fluid circulating through the body is filtered through a barrier system MPheno.ontology MP:0013285 abnormal renal filtration MP:0013285 any anomaly in the renal system process in which fluid circulating through the body is filtered through a barrier system GO:0097205 anomaly in the series of morphological and molecular maturational processes undergone by spermatozoa in the female genital tract that enable them to penetrate and fertilize an egg MPheno.ontology MP:0013286 abnormal sperm capacitation MP:0013286 anomaly in the series of morphological and molecular maturational processes undergone by spermatozoa in the female genital tract that enable them to penetrate and fertilize an egg GO:0048240 anomaly in the discharge, by sperm, of a single, anterior secretory granule following the sperm's attachment to the zona pellucida of the oocyte; the process begins with the fusion of the outer acrosomal membrane with the sperm plasma membrane and ends with the exocytosis of the acrosomal contents into the zona pellucida MPheno.ontology MP:0013287 abnormal acrosome reaction MP:0013287 anomaly in the discharge, by sperm, of a single, anterior secretory granule following the sperm's attachment to the zona pellucida of the oocyte; the process begins with the fusion of the outer acrosomal membrane with the sperm plasma membrane and ends with the exocytosis of the acrosomal contents into the zona pellucida GO:0007340 spontaneous initiation of the cellular exocytosis that allows sperm to penetrate the zona pellucida of ovulated eggs, occurring prior to encountering conditions that induce sperm capacitation MPheno.ontology MP:0013288 premature acrosome reaction MP:0013288 spontaneous initiation of the cellular exocytosis that allows sperm to penetrate the zona pellucida of ovulated eggs, occurring prior to encountering conditions that induce sperm capacitation https://orcid.org/0000-0003-4606-0597 any anomaly in the process that results in the division of the cytoplasm of a cell after mitosis, this process consists of two distinct processes furrowing and abscission abnormal cytokinesis after mitosis MPheno.ontology MP:0013289 abnormal mitotic cytokinesis MP:0013289 any anomaly in the process that results in the division of the cytoplasm of a cell after mitosis, this process consists of two distinct processes furrowing and abscission GO:0000281 https://orcid.org/0000-0003-4606-0597 partial or complete failure of the ultimobranchial bodies to fuse with the ventral thyroid primordium; as a result, ultimobranchial bodies remain as unilateral or bilateral vesicles composed exclusively of calcitonin-producing cells persistent corpus ultimopharyngeum persistent postbranchial bodies persistent telobranchial bodies persistent telopharyngeal bodies persistent ultimobranchial glands persistent ultimopharyngeal bodies persistent ultimopharyngeal glands MPheno.ontology MP:0013290 persistent ultimobranchial bodies MP:0013290 partial or complete failure of the ultimobranchial bodies to fuse with the ventral thyroid primordium; as a result, ultimobranchial bodies remain as unilateral or bilateral vesicles composed exclusively of calcitonin-producing cells ISBN:032322153X presence of well-developed and normally organized pancreatic tissue lying outside its normal location without any anatomical and vascular continuity with the pancreas proper; although an ectopic pancreas can occur throughout the entire gastrointestinal tract, it is most commonly located in the stomach, duodenum, jejunum or Meckel's diverticulum aberrant pancreas localization accessory pancreas heterotopic pancreas MPheno.ontology MP:0013291 ectopic pancreas MP:0013291 presence of well-developed and normally organized pancreatic tissue lying outside its normal location without any anatomical and vascular continuity with the pancreas proper; although an ectopic pancreas can occur throughout the entire gastrointestinal tract, it is most commonly located in the stomach, duodenum, jejunum or Meckel's diverticulum https://orcid.org/0000-0002-6490-7723 death prior to the completion of embryo turning (Mus: E9-9.5) MPheno.ontology MP:0013292 embryonic lethality prior to organogenesis MP:0013292 death prior to the completion of embryo turning (Mus: E9-9.5) https://orcid.org/0000-0003-4606-0597 death prior to the appearance of tooth buds (Mus: E12-E12.5) MPheno.ontology MP:0013293 embryonic lethality prior to tooth bud stage MP:0013293 death prior to the appearance of tooth buds (Mus: E12-E12.5) https://orcid.org/0000-0003-4606-0597 death prior to the completion of heart atrial septation (Mus: E14.5-15.5) MPheno.ontology MP:0013294 prenatal lethality prior to heart atrial septation MP:0013294 death prior to the completion of heart atrial septation (Mus: E14.5-15.5) https://orcid.org/0000-0003-4606-0597 acquired size diminution of any portion of the pancreas, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes atrophic pancreas pancreatic atrophy MPheno.ontology MP:0013295 pancreas atrophy MP:0013295 acquired size diminution of any portion of the pancreas, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 difference in the severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) MPheno.ontology MP:0013296 abnormal susceptibility to induced colitis MP:0013296 difference in the severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) https://orcid.org/0000-0003-4890-4685 differences from the expected moribund state caused by colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) abnormal sensitivity to colitis induced morbidity/mortality altered susceptibility to colitis induced morbidity/mortality MPheno.ontology MP:0013297 abnormal susceptibility to colitis induced morbidity/mortality MP:0013297 differences from the expected moribund state caused by colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) https://orcid.org/0000-0003-4890-4685 increased likelihood that an organism will display the expected moribund state caused by colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) decreased resistance to colitis induced morbidity/mortality increased sensitivity to colitis induced morbidity/mortality MPheno.ontology MP:0013298 increased susceptibility to colitis induced morbidity/mortality MP:0013298 increased likelihood that an organism will display the expected moribund state caused by colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) https://orcid.org/0000-0003-4890-4685 reduced likelihood that an organism will display the expected moribund state caused by colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) decreased sensitivity to colitis induced morbidity/mortality increased resistance to colitis induced morbidity/mortality MPheno.ontology MP:0013299 decreased susceptibility to colitis induced morbidity/mortality MP:0013299 reduced likelihood that an organism will display the expected moribund state caused by colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS) https://orcid.org/0000-0003-4890-4685 any functional anomaly of either of the large major salivary glands situated beneath the mandible MPheno.ontology MP:0013300 abnormal submandibular gland physiology MP:0013300 any functional anomaly of either of the large major salivary glands situated beneath the mandible https://orcid.org/0000-0002-6490-7723 anomaly in the amount of iron present in the pancreas tissue abnormal pancreatic iron level MPheno.ontology MP:0013301 abnormal pancreas iron level MP:0013301 anomaly in the amount of iron present in the pancreas tissue MGI:mlaw increase in the amount of iron present in the pancreas tissue increased pancreatic iron level MPheno.ontology MP:0013302 increased pancreas iron level MP:0013302 increase in the amount of iron present in the pancreas tissue MGI:mlaw reduction in the amount of iron present in the pancreas tissue decreased pancreatic iron level reduced pancreas iron level reduced pancreatic iron level MPheno.ontology MP:0013303 decreased pancreas iron level MP:0013303 reduction in the amount of iron present in the pancreas tissue MGI:mlaw bony projections that form along joint margins at bone edges, including the spine; these are frequently found in areas affected by arthritis such as the disc or joint spaces where cartilage has deteriorated bone spurs MPheno.ontology MP:0013304 osteophytes MP:0013304 bony projections that form along joint margins at bone edges, including the spine; these are frequently found in areas affected by arthritis such as the disc or joint spaces where cartilage has deteriorated MGI:mlaw inability of the kidneys to produce either a concentrated or a dilute urine; refers to a state in chronic renal disease in which the kidney cannot form urine with a higher or a lower specific gravity (concentration) than that of protein-free plasma; the specific gravity of the urine becomes fixed, irrespective of the fluid intake impaired urine-concentrating ability urine concentrating defect MPheno.ontology MP:0013305 isosthenuria MP:0013305 inability of the kidneys to produce either a concentrated or a dilute urine; refers to a state in chronic renal disease in which the kidney cannot form urine with a higher or a lower specific gravity (concentration) than that of protein-free plasma; the specific gravity of the urine becomes fixed, irrespective of the fluid intake https://orcid.org/0000-0002-6490-7723 any structural anomaly of that portion of the brain pia mater that covers the ependymal roof or, in the case of the lateral ventricle, medial wall of a cerebral ventricle; vascularized tela choroidea is choroid plexus MPheno.ontology MP:0013306 abnormal tela choroidea morphology MP:0013306 any structural anomaly of that portion of the brain pia mater that covers the ependymal roof or, in the case of the lateral ventricle, medial wall of a cerebral ventricle; vascularized tela choroidea is choroid plexus https://orcid.org/0000-0002-6490-7723 greater average weight of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla MPheno.ontology MP:0013307 increased adrenal gland weight MP:0013307 greater average weight of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla https://orcid.org/0000-0002-6490-7723 reduced average weight of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla reduced adrenal gland weight MPheno.ontology MP:0013308 decreased adrenal gland weight MP:0013308 reduced average weight of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla https://orcid.org/0000-0002-6490-7723 presence of one or more fluid-filled, usually benign growths, in the adrenal gland adrenal cyst adrenal cysts adrenal gland cysts cystic adrenal gland cystic adrenal glands MPheno.ontology MP:0013309 adrenal gland cyst MP:0013309 presence of one or more fluid-filled, usually benign growths, in the adrenal gland https://orcid.org/0000-0002-6490-7723 aberrant formation or incomplete differentiation of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla abnoormal suprarenal capsule development abnormal adrenal body development abnormal adrenal capsule development abnormal adrenal development abnormal suprarenal body development abnormal suprarenal gland development MPheno.ontology MP:0013310 abnormal adrenal gland development MP:0013310 aberrant formation or incomplete differentiation of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla https://orcid.org/0000-0002-6490-7723 any structural anomaly of the tough, fibrous capsule surrounding each ovary abnormal ovarian capsule morphology MPheno.ontology MP:0013311 abnormal ovary capsule morphology MP:0013311 any structural anomaly of the tough, fibrous capsule surrounding each ovary https://orcid.org/0000-0002-6490-7723 missing the tough, fibrous capsule surrounding each ovary absent ovarian capsule unencapsulated ovary MPheno.ontology MP:0013312 absent ovary capsule MP:0013312 missing the tough, fibrous capsule surrounding each ovary https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the female preputial gland, typically resulting in decreased size clitoral gland hypoplasia hypoplastic clitoral gland hypoplastic clitoral glands hypoplastic female preputial gland hypoplastic female preputial glands MPheno.ontology MP:0013313 female preputial gland hypoplasia MP:0013313 decrease in the number of normal cells in normal arrangement in the female preputial gland, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the elliptical-shaped pigment organelles that synthesize and store eumelanin (black/brown) pigment, which is deposited in smooth laminated fibrils of mature eumelanosomes MPheno.ontology MP:0013314 abnormal eumelanosome morphology MP:0013314 any structural anomaly of the elliptical-shaped pigment organelles that synthesize and store eumelanin (black/brown) pigment, which is deposited in smooth laminated fibrils of mature eumelanosomes ISBN:1444319663 any structural anomaly of the oval-shaped pigment organelles that synthesize and store pheomelanin (yellow) pigment, which is deposited in dense granular deposits within pheomelanosomes abnormal phaeomelanosome morphology MPheno.ontology MP:0013315 abnormal pheomelanosome morphology MP:0013315 any structural anomaly of the oval-shaped pigment organelles that synthesize and store pheomelanin (yellow) pigment, which is deposited in dense granular deposits within pheomelanosomes ISBN:1444319663 anomaly in the amount or distribution of yellow pigment in the pheomelanosomes of melanocytes abnormal phaeomelanosome phaeomelanin content MPheno.ontology MP:0013316 abnormal pheomelanosome pheomelanin content MP:0013316 anomaly in the amount or distribution of yellow pigment in the pheomelanosomes of melanocytes MGI:llw2 aberrant or incomplete differentiation of either of the paired sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system; seminal vesicles develop from the segments of the Wolffian ducts immediately adjacent to the urogenital sinus abnormal gonecyst development abnormal seminal gland development gonecyst dysgenesis seminal gland dysgenesis seminal vesicle dysgenesis MPheno.ontology MP:0013317 The seminal vesicles are present as branched organs in many mammals including mice and humans. However, the seminal vesicles are completely absent from some mammals including monotremes, marsupials, carnivores, and cetaceans. In addition, the seminal vesicles in some mammals such as the guinea-pig are present as unbranched tubular glands. abnormal seminal vesicle development MP:0013317 aberrant or incomplete differentiation of either of the paired sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system; seminal vesicles develop from the segments of the Wolffian ducts immediately adjacent to the urogenital sinus https://orcid.org/0000-0002-6490-7723 anomaly in the process in which the seminal vesicle is generated and organized in many mammals including mice and humans; in mice, the initial seminal vesicle buds form cane-shaped tubes off of the Wolffian ducts before birth; after birth, the initial tubes develop lateral branches that elongate and often undergo secondary branching morphogenesis; branching morphogenesis is largely complete by 2 weeks of age abnormal branching involved in gonecyst morphogenesis abnormal branching involved in seminal gland morphogenesis MPheno.ontology MP:0013318 The seminal vesicles are present as branched organs in many mammals including mice and humans. However, the seminal vesicles are completely absent from some mammals including monotremes, marsupials, carnivores, and cetaceans. In addition, the seminal vesicles in some mammals such as the guinea-pig are present as unbranched tubular glands. abnormal branching involved in seminal vesicle morphogenesis MP:0013318 anomaly in the process in which the seminal vesicle is generated and organized in many mammals including mice and humans; in mice, the initial seminal vesicle buds form cane-shaped tubes off of the Wolffian ducts before birth; after birth, the initial tubes develop lateral branches that elongate and often undergo secondary branching morphogenesis; branching morphogenesis is largely complete by 2 weeks of age PMID:16916376 https://orcid.org/0000-0002-6490-7723 acquired size diminution of the seminal vesicles, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes atrophic gonecysts atrophic seminal glands atrophic seminal vesicles gonecyst atrophy seminal gland atrophy MPheno.ontology MP:0013319 seminal vesicle atrophy MP:0013319 acquired size diminution of the seminal vesicles, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 an expansion in the lumen volume of one or both of the paired sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system, as by stretching or distention dilated gonecyst dilated gonecysts dilated seminal gland dilated seminal glands dilated seminal vesicles distended gonecyst distended gonecysts distended seminal gland distended seminal glands distended seminal vesicle distended seminal vesicles gonecyst dilation seminal gland dilation seminal vesicle dilation MPheno.ontology MP:0013320 dilated seminal vesicle MP:0013320 an expansion in the lumen volume of one or both of the paired sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system, as by stretching or distention https://orcid.org/0000-0002-6490-7723 a benign non-cancerous transformation of the pseudostratified columnar epithelium lining the seminal vesicle(s) into stratified squamous epithelium; may occur in response to irritation or inflammation and involve keratinization MPheno.ontology MP:0013321 squamous metaplasia of seminal vesicles MP:0013321 a benign non-cancerous transformation of the pseudostratified columnar epithelium lining the seminal vesicle(s) into stratified squamous epithelium; may occur in response to irritation or inflammation and involve keratinization https://orcid.org/0000-0002-6490-7723 a benign non-cancerous transformation of the prostatic glandular epithelium into stratified squamous epithelium MPheno.ontology MP:0013322 squamous metaplasia of prostate gland MP:0013322 a benign non-cancerous transformation of the prostatic glandular epithelium into stratified squamous epithelium https://orcid.org/0000-0002-6490-7723 any structural anomaly of the paired accessory, glandular, androgen-dependent outpouchings of the proximal ductus deferens, one on each side, that produce and secrete lipids and glycogen, components of the seminal fluid; they open into the ampullae at the level of the colliculus seminalis, are lined by simple columnar epithelium with large, oval nuclei, and may be distinguished from those of the prostate as they are surrounded by a characteristic, dense, fibromuscular stroma; the epithelium forms longitudinal folds and the glands contain homogeneous, dense, eosinophilic secretions with characteristic holes that impart a Swiss cheese-like appearance MPheno.ontology MP:0013323 There is no known human counterpart to the ampullary glands of the mouse. abnormal ampullary gland morphology MP:0013323 any structural anomaly of the paired accessory, glandular, androgen-dependent outpouchings of the proximal ductus deferens, one on each side, that produce and secrete lipids and glycogen, components of the seminal fluid; they open into the ampullae at the level of the colliculus seminalis, are lined by simple columnar epithelium with large, oval nuclei, and may be distinguished from those of the prostate as they are surrounded by a characteristic, dense, fibromuscular stroma; the epithelium forms longitudinal folds and the glands contain homogeneous, dense, eosinophilic secretions with characteristic holes that impart a Swiss cheese-like appearance https://orcid.org/0000-0002-6490-7723 https://www.inkling.com/read/treuting-comparative-anatomy-histology-1st/chapter-18/accessory-sex-glands any structural anomaly of any sex gland that is part of the female reproductive system MPheno.ontology MP:0013324 abnormal female reproductive gland morphology MP:0013324 any structural anomaly of any sex gland that is part of the female reproductive system https://orcid.org/0000-0002-6490-7723 any structural anomaly of any sex gland that is part of the male reproductive system MPheno.ontology MP:0013325 abnormal male reproductive gland morphology MP:0013325 any structural anomaly of any sex gland that is part of the male reproductive system https://orcid.org/0000-0002-6490-7723 any functional anomaly of any sex gland that is part of the female reproductive system MPheno.ontology MP:0013326 abnormal female reproductive gland physiology MP:0013326 any functional anomaly of any sex gland that is part of the female reproductive system https://orcid.org/0000-0002-6490-7723 any functional anomaly of any sex gland that is part of the male reproductive system MPheno.ontology MP:0013327 abnormal male reproductive gland physiology MP:0013327 any functional anomaly of any sex gland that is part of the male reproductive system https://orcid.org/0000-0002-6490-7723 abnormal enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas enlarged viscera splanchnomegaly MPheno.ontology MP:0013328 visceromegaly MP:0013328 abnormal enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas ISBN:9780803609945 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the paired, lobulated, modified sebaceous glands located in the inguinal region adjacent to the penis and vagina, with pheromonal functions in male rodents; in males, the preputial gland empties into the preputial cavity and in females, the preputial (aka clitoral) gland duct empties into the clitoral fossa MPheno.ontology MP:0013329 abnormal preputial gland morphology MP:0013329 any structural anomaly of the paired, lobulated, modified sebaceous glands located in the inguinal region adjacent to the penis and vagina, with pheromonal functions in male rodents; in males, the preputial gland empties into the preputial cavity and in females, the preputial (aka clitoral) gland duct empties into the clitoral fossa https://orcid.org/0000-0002-6490-7723 any structural anomaly of any gland, other than the gonad, associated with the genital tract, such as the ampulla of the ductus deferens and the bulbourethral, prostate and seminal vesicles of the male MPheno.ontology MP:0013330 abnormal male accessory sex gland morphology MP:0013330 any structural anomaly of any gland, other than the gonad, associated with the genital tract, such as the ampulla of the ductus deferens and the bulbourethral, prostate and seminal vesicles of the male https://orcid.org/0000-0002-6490-7723 aberrant formation or incomplete differentiation of the paired almond-shaped glands, one for each eye, that secrete the aqueous layer of the tear film; each lacrimal gland develops through branching morphogenesis regulated by FGF signaling; at E12.5, the conjunctival epithelium at the temporal side of the mouse eyes invades the Fgf10-expressing mesenchyme to form the initial lacrimal gland bud; the bud elongates posteriorly until E15.5 when secondary branching begins to establish the complex tubuloalveolar structure; this eventually gives rise to the mature lacrimal gland composed of numerous ducts, acini and connective tissue MPheno.ontology MP:0013331 abnormal lacrimal gland development MP:0013331 aberrant formation or incomplete differentiation of the paired almond-shaped glands, one for each eye, that secrete the aqueous layer of the tear film; each lacrimal gland develops through branching morphogenesis regulated by FGF signaling; at E12.5, the conjunctival epithelium at the temporal side of the mouse eyes invades the Fgf10-expressing mesenchyme to form the initial lacrimal gland bud; the bud elongates posteriorly until E15.5 when secondary branching begins to establish the complex tubuloalveolar structure; this eventually gives rise to the mature lacrimal gland composed of numerous ducts, acini and connective tissue PMID:22745308 https://orcid.org/0000-0002-6490-7723 presence of multiple cyst-like blood-filled lakes or cavities that lack endothelial linings within parenchymatous organs, typically found in the liver, spleen, bone marrow and lymph nodes; also described in other organs such as lungs, kidneys, parathyroids and pancreas MPheno.ontology MP:0013332 peliosis MP:0013332 presence of multiple cyst-like blood-filled lakes or cavities that lack endothelial linings within parenchymatous organs, typically found in the liver, spleen, bone marrow and lymph nodes; also described in other organs such as lungs, kidneys, parathyroids and pancreas PMID:15734106 https://orcid.org/0000-0002-6490-7723 presence of cyst-like blood-filled lakes or cavities (extravasated erythrocytes not contained in capillaries) within the pituitary gland; commonly found in hyperplastic and adenomatous pituitary glands pituitary peliosis pituitary peliotic cavities MPheno.ontology MP:0013333 pituitary gland peliosis MP:0013333 presence of cyst-like blood-filled lakes or cavities (extravasated erythrocytes not contained in capillaries) within the pituitary gland; commonly found in hyperplastic and adenomatous pituitary glands PMID:15734106 PMID:19089655 https://orcid.org/0000-0002-6490-7723 presence of cyst-like blood-filled lakes or cavities (extravasated erythrocytes not contained in capillaries) within the anterior lobe of the pituitary gland adenophysis peliosis anterior pituitary peliotic cavities peliosis of the anterior pituitary lobe MPheno.ontology MP:0013334 adenohypophysis peliosis MP:0013334 presence of cyst-like blood-filled lakes or cavities (extravasated erythrocytes not contained in capillaries) within the anterior lobe of the pituitary gland PMID:15734106 https://orcid.org/0000-0002-6490-7723 presence of cyst-like blood-filled lakes or cavities that lack endothelial linings in the liver parenchyma hepatic peliotic cavities liver peliosis MPheno.ontology MP:0013335 hepatic peliosis MP:0013335 presence of cyst-like blood-filled lakes or cavities that lack endothelial linings in the liver parenchyma PMID:15734106 https://orcid.org/0000-0002-6490-7723 increase in the bulk size of the pituitary gland due to cell enlargement hypertrophic hypophysis hypertrophic pituitary gland hypophysis hypertrophy MPheno.ontology MP:0013336 pituitary gland hypertrophy MP:0013336 increase in the bulk size of the pituitary gland due to cell enlargement https://orcid.org/0000-0002-6490-7723 aberrant formation or incomplete differentiation of the anterior lobe of the pituitary gland which arises as a pouch-like outgrowth of ectoderm known as the hypophyseal (Rathke's) pouch from the dorsal midline roof of the stomodeum (primitive oral cavity); the hypophyseal pouch grows toward the brain and the neurohypophyseal bud; as the hypophyseal pouch and the infundibulum make contact, the hypophyseal pouch loses its connection with the pharynx, creating a hollow ball of cells that lies inferior to the floor of the diencephalon posterior to the optic chiasm; these cells undergo division, the central chamber gradually disappears, and this endocrine mass becomes the anterior pituitary gland; the fully developed adenohypophysis consists of a glandular pars distalis, a thin proximal extension called the pars tuberalis, and a narrow pars intermedia abnormal adenophysis development abnormal anterior pituitary development abnormal anterior pituitary gland development abnormal anterior pituitary lobe development MPheno.ontology MP:0013337 abnormal adenohypophysis development MP:0013337 aberrant formation or incomplete differentiation of the anterior lobe of the pituitary gland which arises as a pouch-like outgrowth of ectoderm known as the hypophyseal (Rathke's) pouch from the dorsal midline roof of the stomodeum (primitive oral cavity); the hypophyseal pouch grows toward the brain and the neurohypophyseal bud; as the hypophyseal pouch and the infundibulum make contact, the hypophyseal pouch loses its connection with the pharynx, creating a hollow ball of cells that lies inferior to the floor of the diencephalon posterior to the optic chiasm; these cells undergo division, the central chamber gradually disappears, and this endocrine mass becomes the anterior pituitary gland; the fully developed adenohypophysis consists of a glandular pars distalis, a thin proximal extension called the pars tuberalis, and a narrow pars intermedia https://orcid.org/0000-0002-6490-7723 aberrant formation or incomplete differentiation of the posterior lobe of the pituitary gland which develops as a neurohypophyseal bud, a depression in the neuroectoderm of the floor of the hypothalamus; the infundibulum, another diverticulum from the inferior aspect of the diencephalon, develops as an outgrowth of the neurohypophyseal bud and connects the neurohypophysis to the hypothalamus; the neurohypophysis develops as the infundibulum grows inferiorly from the diencephalon to meet the developing adenohypophysis (anterior pituitary lobe); the fully developed neurohypophysis consists of the infundibulum and the pars nervosa; the neural connection between the hypothalamus and pars nervosa is through the hypothalamohypophyseal tract that develops within the infundibulum abnormal neurophysis development abnormal posterior pituitary development abnormal posterior pituitary gland development abnormal posterior pituitary lobe development MPheno.ontology MP:0013338 abnormal neurohypophysis development MP:0013338 aberrant formation or incomplete differentiation of the posterior lobe of the pituitary gland which develops as a neurohypophyseal bud, a depression in the neuroectoderm of the floor of the hypothalamus; the infundibulum, another diverticulum from the inferior aspect of the diencephalon, develops as an outgrowth of the neurohypophyseal bud and connects the neurohypophysis to the hypothalamus; the neurohypophysis develops as the infundibulum grows inferiorly from the diencephalon to meet the developing adenohypophysis (anterior pituitary lobe); the fully developed neurohypophysis consists of the infundibulum and the pars nervosa; the neural connection between the hypothalamus and pars nervosa is through the hypothalamohypophyseal tract that develops within the infundibulum https://orcid.org/0000-0002-6490-7723 any structural anomaly of the outgrowth of neuroectoderm located on the floor of the embryonic hypothalamus that gives rise to the neurohypophysis (posterior lobe) of the pituitary gland MPheno.ontology MP:0013339 abnormal neurohypophyseal bud morphology MP:0013339 any structural anomaly of the outgrowth of neuroectoderm located on the floor of the embryonic hypothalamus that gives rise to the neurohypophysis (posterior lobe) of the pituitary gland https://orcid.org/0000-0002-6490-7723 any structural anomaly of the distinctive fusiform cells present in the pars nervosa of the posterior pituitary gland which resemble astrocytes/glial cells of the CNS and assist in the storage and release of neurohypophysial hormones MPheno.ontology MP:0013340 abnormal pituicyte morphology MP:0013340 any structural anomaly of the distinctive fusiform cells present in the pars nervosa of the posterior pituitary gland which resemble astrocytes/glial cells of the CNS and assist in the storage and release of neurohypophysial hormones https://orcid.org/0000-0002-6490-7723 any structural anomaly of the star-shaped and follicle-forming cells in the anterior pituitary gland that stain positive for S-100 protein (a marker for FS-cells); ascribed functions include the formation of an extensive and complex tridimentional network, scavenger activity by engulfing degenerated cells, paracrine regulation of endocrine cells by producing various growth factors and cytokines, such as interleukin-6, leukemia inhibitory factor, basic fibroblastic growth factor, vascular endothelial cell growth factor and follistatin, and large-scale inter-cellular communication by means of their long cytoplasmic processes and gap junctions abnormal FS-cell morphology abnormal FS-cells abnormal folliculostellate cell morphology MPheno.ontology MP:0013341 abnormal folliculo-stellate cell morphology MP:0013341 any structural anomaly of the star-shaped and follicle-forming cells in the anterior pituitary gland that stain positive for S-100 protein (a marker for FS-cells); ascribed functions include the formation of an extensive and complex tridimentional network, scavenger activity by engulfing degenerated cells, paracrine regulation of endocrine cells by producing various growth factors and cytokines, such as interleukin-6, leukemia inhibitory factor, basic fibroblastic growth factor, vascular endothelial cell growth factor and follistatin, and large-scale inter-cellular communication by means of their long cytoplasmic processes and gap junctions PMID:18601690 https://orcid.org/0000-0002-6490-7723 the appearance of an abnormal division in the diverticulum arsing from the embryonic buccal cavity from which the anterior lobe of the pituitary gland is developed bifurcated Rathke's diverticulum bifurcated Rathke's pocket bifurcated craniobuccal pouch bifurcated craniopharyngeal pouch bifurcated hypophyseal pouch MPheno.ontology MP:0013342 bifurcated Rathke's pouch MP:0013342 the appearance of an abnormal division in the diverticulum arsing from the embryonic buccal cavity from which the anterior lobe of the pituitary gland is developed PMID:19074474 https://orcid.org/0000-0002-6490-7723 change in the timing or the number of any pituitary gland cells undergoing programmed cell death abnormal pituitary apoptosis MPheno.ontology MP:0013343 abnormal pituitary gland apoptosis MP:0013343 change in the timing or the number of any pituitary gland cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increase in the number of any cells of the pituitary gland undergoing programmed cell death increased pituitary apoptosis MPheno.ontology MP:0013344 increased pituitary gland apoptosis MP:0013344 increase in the number of any cells of the pituitary gland undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 decrease in the number of any cells of the pituitary gland undergoing programmed cell death decreased pituitary apoptosis reduced pituitary apoptosis reduced pituitary gland apoptosis MPheno.ontology MP:0013345 decreased pituitary gland apoptosis MP:0013345 decrease in the number of any cells of the pituitary gland undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increase in the number of cells of the intermediate pituitary that produce melanocyte stimulating hormone and other peptides from the post-translational processing of pro-opiomelanocortin (POMC) undergoing programmed cell death increased melanocyte stimulating hormone secreting cell apoptosis increased melanotrope apoptosis MPheno.ontology MP:0013346 increased melanotroph apoptosis MP:0013346 increase in the number of cells of the intermediate pituitary that produce melanocyte stimulating hormone and other peptides from the post-translational processing of pro-opiomelanocortin (POMC) undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increase in the number of anterior pituitary ACTH-producing basophilic cells undergoing programmed cell death increased adrenocorticotrophic hormone secreting cell apoptosis increased corticotrope apoptosis increased corticotrophin hormone secreting cell apoptosis increased corticotropin hormone secreting cell apoptosis increased pituitary ACTH-producing cell apoptosis increased pituitary adrenocorticotropin-secreting cell apoptosis MPheno.ontology MP:0013347 increased corticotroph apoptosis MP:0013347 increase in the number of anterior pituitary ACTH-producing basophilic cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the adenohypophysis, typically resulting in increased size adenophysis hyperplasia anterior pituitary gland hyperplasia anterior pituitary lobe hyperplasia hyperplastic adenohypophysis hyperplastic adenophysis hyperplastic anterior pituitary gland hyperplastic anterior pituitary lobe MPheno.ontology MP:0013348 adenohypophysis hyperplasia MP:0013348 increase in the number of normal cells in normal arrangement in the adenohypophysis, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 reduced size of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland decreased Rathke's pouch size reduced Rathke's pouch size MPheno.ontology MP:0013349 small Rathke's pouch MP:0013349 reduced size of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the Rathke's pouch, typically resulting in decreased size hypoplastic Rathke's pouch MPheno.ontology MP:0013350 Rathke's pouch hypoplasia MP:0013350 decrease in the number of normal cells in normal arrangement in the Rathke's pouch, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any anomaly in the formation of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland abnormal Rathke's pouch formation MPheno.ontology MP:0013351 abnormal Rathke's pouch development MP:0013351 any anomaly in the formation of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland https://orcid.org/0000-0002-6490-7723 any change in the timing or number of Rathke's pouch cells undergoing programmed cell death MPheno.ontology MP:0013352 abnormal Rathke's pouch apoptosis MP:0013352 any change in the timing or number of Rathke's pouch cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 presence of one or more intrasellar or suprasellar cysts lined by cuboidal epithelium derived from remnants of the Rathke pouch Rathke cleft cysts Rathke cyst Rathke cysts MPheno.ontology MP:0013353 Rathke cleft cyst MP:0013353 presence of one or more intrasellar or suprasellar cysts lined by cuboidal epithelium derived from remnants of the Rathke pouch https://orcid.org/0000-0002-6490-7723 a suprasellar neoplasm, usually cystic, that develops from the nests of epithelium derived from Rathke pouch increased Erdheim tumor incidence increased Erdheim tumour incidence increased Rathke pouch tumour incidence increased craniopharyngioma incidence increased hypophyseal duct tumor incidence increased hypophyseal duct tumour incidence increased pituitary adamantinoma incidence increased pituitary ameloblastoma incidence MPheno.ontology MP:0013354 increased Rathke pouch tumor incidence MP:0013354 a suprasellar neoplasm, usually cystic, that develops from the nests of epithelium derived from Rathke pouch http://medical-dictionary.thefreedictionary.com/craniopharyngioma https://orcid.org/0000-0002-6490-7723 increase in the bulk size of the anterior lobe of the pituitary gland due to cell enlargement adenophysis hypertrophy anterior pituitary gland hypertrophy anterior pituitary lobe hypertrophy hypertrophic adenohypophysis hypertrophic adenophysis hypertrophic anterior pituitary gland hypertrophic anterior pituitary lobe MPheno.ontology MP:0013355 adenohypophysis hypertrophy MP:0013355 increase in the bulk size of the anterior lobe of the pituitary gland due to cell enlargement https://orcid.org/0000-0002-6490-7723 a pituitary gland located outside of its normal position ectopic hypophysis ectopic pituitary tissue MPheno.ontology MP:0013356 ectopic pituitary gland MP:0013356 a pituitary gland located outside of its normal position https://orcid.org/0000-0002-6490-7723 an anterior pituitary gland located outside of its normal position due to arrest of migration from a pharyngeocranial location to the sellar region; a portion or all of the adenohypophysis may persist in the pathway of the pharyngeal pouch, either in the nasopharyngeal wall or within the sphenoid bone ectopic adenophysis ectopic anterior pituitary gland ectopic anterior pituitary lobe ectopic nasopharyngeal pituitary ectopic pituitary anterior lobe MPheno.ontology MP:0013357 ectopic adenohypophysis MP:0013357 an anterior pituitary gland located outside of its normal position due to arrest of migration from a pharyngeocranial location to the sellar region; a portion or all of the adenohypophysis may persist in the pathway of the pharyngeal pouch, either in the nasopharyngeal wall or within the sphenoid bone PMID:19093031 https://orcid.org/0000-0002-6490-7723 a posterior pituitary gland displaced distally in the infundibulum (pituitary stalk) due to defective neuronal migration during embryogenesis, tumors, trauma, or surgical transection of the pituitary stalk; may present with an empty pituitary fossa, hypoplasia or absence of the infundibular stalk and resultant short stature due to growth hormone deficiency; the location of the ectopic lobe can vary, but it is most commonly located along the median eminence in the floor of the third ventricle ectopic neurophysis ectopic pituitary posterior lobe ectopic posterior pituitary gland ectopic posterior pituitary lobe MPheno.ontology MP:0013358 ectopic neurohypophysis MP:0013358 a posterior pituitary gland displaced distally in the infundibulum (pituitary stalk) due to defective neuronal migration during embryogenesis, tumors, trauma, or surgical transection of the pituitary stalk; may present with an empty pituitary fossa, hypoplasia or absence of the infundibular stalk and resultant short stature due to growth hormone deficiency; the location of the ectopic lobe can vary, but it is most commonly located along the median eminence in the floor of the third ventricle PMID:24209704 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the principal cell of the pineal gland, characterized by two or more long cell processes ending in bulbous expansions that terminate in perivascular spaces surrounding capillaries; pinealocytes are secretory cells organized into cords and clusters resting on a basal lamina and surrounded by connective tissue, blood vessels lined by fenestrated endothelial cells, and nerves; their cytoplasm contains abundant mitochondria and multiple synaptic ribbons that are randomly distributed; the primary function of the pinealocytes is the secretion of melatonin; pinealocytes receive a direct innervation from sympathetic neurons that form recognizable synapses abnormal chief cell of corpus pineale abnormal parenchymatous cell of corpus pineale abnormal pineal parenchymal cell morphology abnormal pineocyte morphology abnormal pinocyte morphology MPheno.ontology MP:0013359 abnormal pinealocyte morphology MP:0013359 any structural anomaly of the principal cell of the pineal gland, characterized by two or more long cell processes ending in bulbous expansions that terminate in perivascular spaces surrounding capillaries; pinealocytes are secretory cells organized into cords and clusters resting on a basal lamina and surrounded by connective tissue, blood vessels lined by fenestrated endothelial cells, and nerves; their cytoplasm contains abundant mitochondria and multiple synaptic ribbons that are randomly distributed; the primary function of the pinealocytes is the secretion of melatonin; pinealocytes receive a direct innervation from sympathetic neurons that form recognizable synapses CL:0000652 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the diverticulum of the thin roof of the dorsocaudal third ventricle that projects into the stalk of the pineal gland abnormal pineal recess of third ventricle morphology abnormal recessus pinealis morphology MPheno.ontology MP:0013360 abnormal pineal recess morphology MP:0013360 any structural anomaly of the diverticulum of the thin roof of the dorsocaudal third ventricle that projects into the stalk of the pineal gland ISBN:068340007X https://orcid.org/0000-0002-6490-7723 absence of the diverticulum of the thin roof of the dorsocaudal third ventricle that projects into the stalk of the pineal gland absent recessus pinealis MPheno.ontology MP:0013361 absent pineal recess MP:0013361 absence of the diverticulum of the thin roof of the dorsocaudal third ventricle that projects into the stalk of the pineal gland ISBN:068340007X https://orcid.org/0000-0002-6490-7723 absence of the unpaired epithalamic structure that is shaped like a tiny pine cone and located above the posterior commissure near the level of the habenular complex and the sylvian aqueduct; the pineal is both a circumventricular organ and an endocrine organ that secretes melatonin, a serotonin-derived hormone involved in the regulation of circadian rhythms absent conarium absent epiphysis cerebri absent glandula pinealis absent pineal body apinealism MPheno.ontology MP:0013362 absent pineal gland MP:0013362 absence of the unpaired epithalamic structure that is shaped like a tiny pine cone and located above the posterior commissure near the level of the habenular complex and the sylvian aqueduct; the pineal is both a circumventricular organ and an endocrine organ that secretes melatonin, a serotonin-derived hormone involved in the regulation of circadian rhythms https://orcid.org/0000-0002-6490-7723 aberrant formation or incomplete differentiation of the pineal gland which normally develops from a saccular outpocketing of the posterior diencephalic roof in the midline of the third ventricle; continued diverticulation and infolding result in a solid parenchymal mass of cords and clusters of pinealocytes and glial-like interstitial cells supported by a meninges-derived connective tissue that carries blood vessels and nerves to the pineal gland abnormal pineal development abnormal conarium development abnormal corpus pineale development abnormal epiphysis cerebri development abnormal glandula pinealis development abnormal pineal body development MPheno.ontology MP:0013363 abnormal pineal gland development MP:0013363 aberrant formation or incomplete differentiation of the pineal gland which normally develops from a saccular outpocketing of the posterior diencephalic roof in the midline of the third ventricle; continued diverticulation and infolding result in a solid parenchymal mass of cords and clusters of pinealocytes and glial-like interstitial cells supported by a meninges-derived connective tissue that carries blood vessels and nerves to the pineal gland https://orcid.org/0000-0002-6490-7723 https://www.inkling.com/read/histology-cell-biology-kierszenbaum-tres-3rd/chapter-18/pineal-gland increased size of the unpaired epithalamic structure that is shaped like a tiny pine cone and located above the posterior commissure near the level of the habenular complex and the sylvian aqueduct; the pineal is both a circumventricular organ and an endocrine organ that secretes melatonin, a serotonin-derived hormone involved in the regulation of circadian rhythms enlarged conarium enlarged epiphysis cerebri enlarged glandula pinealis enlarged pineal body increased pineal body size increased pineal gland size MPheno.ontology MP:0013364 enlarged pineal gland MP:0013364 increased size of the unpaired epithalamic structure that is shaped like a tiny pine cone and located above the posterior commissure near the level of the habenular complex and the sylvian aqueduct; the pineal is both a circumventricular organ and an endocrine organ that secretes melatonin, a serotonin-derived hormone involved in the regulation of circadian rhythms https://orcid.org/0000-0002-6490-7723 greater than the expected number of neoplams in the pineal gland occurring in a specific population in a given time period increased pineal body tumor incidence increased pineal body tumour incidence increased pineal gland tumour incidence MPheno.ontology pineal tumor pineal tumour pinealoma MP:0013365 increased pineal gland tumor incidence MP:0013365 greater than the expected number of neoplams in the pineal gland occurring in a specific population in a given time period https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of the pair of endocrine glands located above the kidney and responsible for steroid hormone secretion from the cortex and neurotransmitter secretion from the medulla, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes atrophic adrenal glands MPheno.ontology MP:0013366 adrenal gland atrophy MP:0013366 acquired diminution of the size of the pair of endocrine glands located above the kidney and responsible for steroid hormone secretion from the cortex and neurotransmitter secretion from the medulla, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear parotitis MPheno.ontology MP:0013367 parotid gland inflammation MP:0013367 local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear https://orcid.org/0000-0002-6490-7723 any functional anomaly of the coiled tubular glands of the skin that secrete sweat abnormal sweat response sudomotor dysfunction sweating dysfunction MPheno.ontology MP:0013368 abnormal sweat gland physiology MP:0013368 any functional anomaly of the coiled tubular glands of the skin that secrete sweat https://orcid.org/0000-0002-6490-7723 altered ability of the coiled tubular glands of the skin to produce or secrete sweat in response to appropriate stimuli MPheno.ontology MP:0013369 abnormal sweat gland secretion MP:0013369 altered ability of the coiled tubular glands of the skin to produce or secrete sweat in response to appropriate stimuli https://orcid.org/0000-0002-6490-7723 complete absence of sweating in response to appropriate stimuli absent sweating MPheno.ontology MP:0013370 anhidrosis MP:0013370 complete absence of sweating in response to appropriate stimuli https://orcid.org/0000-0002-6490-7723 decreased sweating in response to appropriate stimuli reduced sweating MPheno.ontology MP:0013371 hypohidrosis MP:0013371 decreased sweating in response to appropriate stimuli https://orcid.org/0000-0002-6490-7723 abnormally increased sweating in response to appropriate stimuli excessive sweating MPheno.ontology MP:0013372 hyperhidrosis MP:0013372 abnormally increased sweating in response to appropriate stimuli https://orcid.org/0000-0002-6490-7723 increased production and/or release of the lipid-rich substance that is produced by the sebaceous glands, acts to lubricate and waterproof the skin and hair of mammals, and provides antibacterial activity; sebum is released by disintegrating sebocytes that are continuously replaced from progenitors in the periphery of the sebaceous gland; its composition varies across species excessive sebum production increased sebum production MPheno.ontology MP:0013373 increased sebum secretion MP:0013373 increased production and/or release of the lipid-rich substance that is produced by the sebaceous glands, acts to lubricate and waterproof the skin and hair of mammals, and provides antibacterial activity; sebum is released by disintegrating sebocytes that are continuously replaced from progenitors in the periphery of the sebaceous gland; its composition varies across species https://orcid.org/0000-0002-6490-7723 greater than the expected number of neoplams in the sebaceous gland occurring in a specific population in a given time period increased sebaceous gland tumour incidence MPheno.ontology MP:0013374 increased sebaceous gland tumor incidence MP:0013374 greater than the expected number of neoplams in the sebaceous gland occurring in a specific population in a given time period https://orcid.org/0000-0002-6490-7723 any structural anomaly of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation (holocrine secretion); these cells are most commonly found in the skin in association with hair follicles (forming the pilosebaceous unit), where they arise from hair follicle keratinocytes, but there are also sebaceous glands not associated with a hair follicle; the latter have special functions as secretion of pheromones or corneal protection abnormal acinar cell of sebaceous gland morphology abnormal sebaceous epithelial cell morphology MPheno.ontology MP:0013375 abnormal sebocyte morphology MP:0013375 any structural anomaly of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation (holocrine secretion); these cells are most commonly found in the skin in association with hair follicles (forming the pilosebaceous unit), where they arise from hair follicle keratinocytes, but there are also sebaceous glands not associated with a hair follicle; the latter have special functions as secretion of pheromones or corneal protection PMID:19944183 https://orcid.org/0000-0002-6490-7723 abnormal formation or arrest of differentiation of the sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation; these cells are most commonly found in the skin in association with hair follicles (forming the pilosebaceous unit), where they arise from hair follicle keratinocytes, but there are also sebaceous glands not associated with a hair follicle; the latter have special functions as secretion of pheromones or corneal protection; sebocyte differentiation is defined by increasing accumulation of lipid droplets, the major component of sebum abnormal acinar cell of sebaceous gland differentiation abnormal sebaceous epithelial cell differentiation MPheno.ontology MP:0013376 abnormal sebocyte differentiation MP:0013376 abnormal formation or arrest of differentiation of the sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation; these cells are most commonly found in the skin in association with hair follicles (forming the pilosebaceous unit), where they arise from hair follicle keratinocytes, but there are also sebaceous glands not associated with a hair follicle; the latter have special functions as secretion of pheromones or corneal protection; sebocyte differentiation is defined by increasing accumulation of lipid droplets, the major component of sebum PMID:19944183 https://orcid.org/0000-0002-6490-7723 any deviation from the normal numbers of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation abnormal acinar cell of sebaceous gland number abnormal sebaceous epithelial cell number MPheno.ontology MP:0013377 abnormal sebocyte number MP:0013377 any deviation from the normal numbers of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation PMID:19944183 https://orcid.org/0000-0002-6490-7723 greater than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation increased acinar cell of sebaceous gland number increased sebaceous epithelial cell number MPheno.ontology MP:0013378 increased sebocyte number MP:0013378 greater than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation PMID:19944183 https://orcid.org/0000-0002-6490-7723 fewer than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation decreased acinar cell of sebaceous gland number decreased sebaceous epithelial cell number reduced acinar cell of sebaceous gland number reduced sebaceous epithelial cell number reduced sebocyte cell number MPheno.ontology MP:0013379 decreased sebocyte cell number MP:0013379 fewer than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation PMID:19944183 https://orcid.org/0000-0002-6490-7723 failure of formation or loss of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation absent acinar cell of sebaceous gland absent sebaceous epithelial cells MPheno.ontology MP:0013380 absent sebocyte MP:0013380 failure of formation or loss of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation PMID:19944183 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the modified holocrine gland that is part of the pilosebaceous unit of a hair located in the area around the anus; each of the specialized large hair follicles that surround and form a network around the anus has a pair of large sebaceous glands that empty into the follicle; perianal glands may function as scent glands abnormal anal gland morphology MPheno.ontology abnormal circumanal gland morphology abnormal perianal gland morphology MP:0013381 abnormal perianal sebaceous gland morphology MP:0013381 any structural anomaly of the modified holocrine gland that is part of the pilosebaceous unit of a hair located in the area around the anus; each of the specialized large hair follicles that surround and form a network around the anus has a pair of large sebaceous glands that empty into the follicle; perianal glands may function as scent glands https://orcid.org/0000-0002-6490-7723 https://www.inkling.com/read/treuting-comparative-anatomy-histology-1st/chapter-23/mouse-perianal-hair-follicle decreased size of the modified holocrine gland that is part of the pilosebaceous unit of a hair located in the area around the anus; each of the specialized large hair follicles that surround and form a network around the anus has a pair of large sebaceous glands that empty into the follicle; perianal glands may function as scent glands decreased anal gland size decreased perianal sebaceous gland size reduced anal gland size reduced perianal sebaceous gland size small anal gland MPheno.ontology decreased circumanal gland size decreased perianal gland size reduced circumanal gland size reduced perianal gland size small circumanal gland small perianal gland MP:0013382 small perianal sebaceous gland MP:0013382 decreased size of the modified holocrine gland that is part of the pilosebaceous unit of a hair located in the area around the anus; each of the specialized large hair follicles that surround and form a network around the anus has a pair of large sebaceous glands that empty into the follicle; perianal glands may function as scent glands https://orcid.org/0000-0002-6490-7723 https://www.inkling.com/read/treuting-comparative-anatomy-histology-1st/chapter-23/mouse-perianal-hair-follicle greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any sebaceous gland, occurring in a specific population in a given time period MPheno.ontology sebaceous adenoma MP:0013383 increased sebaceous gland adenoma incidence MP:0013383 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any sebaceous gland, occurring in a specific population in a given time period https://orcid.org/0000-0002-6490-7723 any structural anomaly of either of the paired multilobulated modified auditory sebaceous glands located anterior and ventral to the exterior ear canal in rodents; each gland consists of acinar sebaceous cells and excretory ducts lined by stratified squamous epithelium; the ducts of Zymbal's gland empty into the external ear canal abnormal Zymbal gland morphology abnormal auditory sebaceous gland morphology abnormal gland of Zymbal morphology MPheno.ontology MP:0013384 abnormal Zymbal's gland morphology MP:0013384 any structural anomaly of either of the paired multilobulated modified auditory sebaceous glands located anterior and ventral to the exterior ear canal in rodents; each gland consists of acinar sebaceous cells and excretory ducts lined by stratified squamous epithelium; the ducts of Zymbal's gland empty into the external ear canal ISBN:012382009X ISBN:1439872104 https://orcid.org/0000-0002-6490-7723 aberrant formation or incomplete differentiation of the sebaceous glands located at the rim of the eyelids inside the tarsal plate and responsible for the supply of meibum, an oily substance that prevents evaporation of the eye's tear film; in mice, meibomian gland development is initiated around E18.5 with the formation of an epithelial placode and mesenchymal condensation, similar to that observed in hair follicle development; invagination of the epithelium into the developing mesenchyme then continues from birth to about P3 with initial branching of the epithelial cord detected at P5; by P8 the developing meibomian gland shows extensive ductal branching and the formation of distinct acini with mature meibomian glands present by P15 or eyelid opening abnormal tarsal gland development MPheno.ontology MP:0013385 abnormal Meibomian gland development MP:0013385 aberrant formation or incomplete differentiation of the sebaceous glands located at the rim of the eyelids inside the tarsal plate and responsible for the supply of meibum, an oily substance that prevents evaporation of the eye's tear film; in mice, meibomian gland development is initiated around E18.5 with the formation of an epithelial placode and mesenchymal condensation, similar to that observed in hair follicle development; invagination of the epithelium into the developing mesenchyme then continues from birth to about P3 with initial branching of the epithelial cord detected at P5; by P8 the developing meibomian gland shows extensive ductal branching and the formation of distinct acini with mature meibomian glands present by P15 or eyelid opening PMID:20664693 increased size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate enlarged tarsal gland increased meibomian gland size increased tarsal gland size MPheno.ontology MP:0013386 enlarged Meibomian gland MP:0013386 increased size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate https://orcid.org/0000-0002-6490-7723 increase in the bulk size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate due to cell enlargement hypertrophic meibomian gland hypertrophic tarsal gland tarsal gland hypertrophy MPheno.ontology MP:0013387 Meibomian gland hypertrophy MP:0013387 increase in the bulk size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate due to cell enlargement https://orcid.org/0000-0002-6490-7723 decreased size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate decreased meibomian gland size decreased tarsal gland size reduced meibomian gland size reduced tarsal gland size small tarsal gland MPheno.ontology MP:0013388 small Meibomian gland MP:0013388 decreased size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the Meibomian gland, typically resulting in decreased size hypoplastic meibomian gland hypoplastic tarsal gland tarsal gland hypoplasia MPheno.ontology MP:0013389 Meibomian gland hypoplasia MP:0013389 decrease in the number of normal cells in normal arrangement in the Meibomian gland, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 presence of one or more non-malignant fluid-filled cysts in the eyelid area due to non-infectious obstruction or malfunctioning of a Meibomian gland causing extravasation of lipid material in the eyelid soft tissues with focal secondary granulomatous inflammation Meibomian cyst Meibomian cysts Meibomian gland cysts Meibomian gland lipogranuloma Meibomian gland lipogranulomas chalazia chalazion cystic Meibomian gland cystic tarsal gland eyelid lump tarsal cyst tarsal cysts tarsal gland cyst tarsal gland cysts MPheno.ontology MP:0013390 Meibomian gland cyst MP:0013390 presence of one or more non-malignant fluid-filled cysts in the eyelid area due to non-infectious obstruction or malfunctioning of a Meibomian gland causing extravasation of lipid material in the eyelid soft tissues with focal secondary granulomatous inflammation https://orcid.org/0000-0002-6490-7723 any functional anomaly of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate; dysfunctional Meibomian glands may produce an excessive amount of oil, cause dry eyes, or contribute to blepharitis Meibomian gland dysfunction MPheno.ontology MP:0013391 abnormal Meibomian gland physiology MP:0013391 any functional anomaly of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate; dysfunctional Meibomian glands may produce an excessive amount of oil, cause dry eyes, or contribute to blepharitis https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate; chronic Meibomian gland inflammation can lead to a lump in the eyelid known as a Meibomian gland cyst (aka chalazion) meibomianitis meibomitis posterior blepharitis MPheno.ontology MP:0013392 Meibomian gland inflammation MP:0013392 local accumulation of fluid, plasma proteins, and leukocytes in the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate; chronic Meibomian gland inflammation can lead to a lump in the eyelid known as a Meibomian gland cyst (aka chalazion) https://orcid.org/0000-0002-6490-7723 partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball atretoblepharia palpebral-bulbar adhesion MPheno.ontology MP:0013393 Symblepharon is rarely a congenital defect and this condition usually results from trauma such as burns. symblepharon MP:0013393 partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball https://orcid.org/0000-0002-6490-7723 any structural anomaly of the thin transparent mucous membrane that covers the posterior surface of the eyelids and is continuous with the bulbar conjunctiva at the conjunctival fornicies abnormal conjunctival layer of eyelids morphology MPheno.ontology MP:0013394 abnormal palpebral conjunctiva morphology MP:0013394 any structural anomaly of the thin transparent mucous membrane that covers the posterior surface of the eyelids and is continuous with the bulbar conjunctiva at the conjunctival fornicies ISBN:068340007X decrease in the number of normal cells in normal arrangement in the eyelid, typically resulting in decreased size eye lid hypoplasia hypoplastic eye lid hypoplastic eyelid hypoplastic eyelids MPheno.ontology MP:0013395 eyelid hypoplasia MP:0013395 decrease in the number of normal cells in normal arrangement in the eyelid, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the eyeball, typically resulting in increased size eye lid hyperplasia hyperplastic eye lid hyperplastic eyelid hyperplastic eyelids MPheno.ontology MP:0013396 eyelid hyperplasia MP:0013396 increase in the number of normal cells in normal arrangement in the eyeball, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the unilobar sebaceous glands located on the margin of the eyelid that service the eyelash; these glands produce an oily substance that is issued through the excretory ducts of the sebaceous lobule into the middle portion of the hair follicle abnormal ciliary sebaceous gland of eyelid abnormal gland of Zeis morphology MPheno.ontology MP:0013397 abnormal Zeis gland morphology MP:0013397 any structural anomaly of the unilobar sebaceous glands located on the margin of the eyelid that service the eyelash; these glands produce an oily substance that is issued through the excretory ducts of the sebaceous lobule into the middle portion of the hair follicle http://en.wikipedia.org/wiki/Gland_of_Zeis https://orcid.org/0000-0002-6490-7723 invasion of fibrous connective tissue into the uterus, often resulting from inflammation or injury metra fibrosis metral fibrosis uterine fibrosis MPheno.ontology MP:0013398 uterus fibrosis MP:0013398 invasion of fibrous connective tissue into the uterus, often resulting from inflammation or injury https://orcid.org/0000-0002-6490-7723 invasion of fibrous connective tissue into the endometrium, often resulting from inflammation or injury endometrial fibrosis MPheno.ontology MP:0013399 endometrium fibrosis MP:0013399 invasion of fibrous connective tissue into the endometrium, often resulting from inflammation or injury https://orcid.org/0000-0002-6490-7723 aberrant formation or incomplete differentiation of the simple or branched tubular glands found in the mucus membrane of the uterus abnormal uterine gland development endometrial gland dysgenesis uterine gland dysgenesis MPheno.ontology MP:0013400 abnormal endometrial gland development MP:0013400 aberrant formation or incomplete differentiation of the simple or branched tubular glands found in the mucus membrane of the uterus PMID:23619340 https://orcid.org/0000-0002-6490-7723 greater than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus increased uterine gland number MPheno.ontology MP:0013401 increased endometrial gland number MP:0013401 greater than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus https://orcid.org/0000-0002-6490-7723 any structural anomaly of the conjunctiva covering the anterior surface of the sclera and the surface epithelium of the cornea abnormal conjunctival layer of bulb morphology abnormal ocular conjunctiva morphology MPheno.ontology MP:0013402 abnormal bulbar conjunctiva morphology MP:0013402 any structural anomaly of the conjunctiva covering the anterior surface of the sclera and the surface epithelium of the cornea ISBN:068340007X any anomaly of the amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase MPheno.ontology MP:0013403 Lactate levels in the blood are used as an index of anerobic carbohydrate metabolism. abnormal circulating lactate level MP:0013403 any anomaly of the amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase MPD:Molly reduced amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase MPheno.ontology MP:0013404 decreased circulating lactate level MP:0013404 reduced amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase MPD:Molly greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase MPheno.ontology MP:0013405 increased circulating lactate level MP:0013405 greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase MPD:Molly any anomaly in the constitution or organization of the immune cells residing in the skin epidermal layer MPheno.ontology MP:0013406 abnormal epidermal immune compartment MP:0013406 any anomaly in the constitution or organization of the immune cells residing in the skin epidermal layer IMPC:Saran any structural anomaly of T cells with dendritic appearance residing in the skin epidermis, usually expressing a canonical gamma-delta T cell receptor and is involved in the regulation of wound healing abnormal DETC morphology abnormal dendritic epidermal T lymphocyte morphology abnormal dendritic epidermal T-cell morphology abnormal dendritic epidermal T-lymphocyte morphology MPheno.ontology MP:0013407 abnormal dendritic epidermal T cell morphology MP:0013407 any structural anomaly of T cells with dendritic appearance residing in the skin epidermis, usually expressing a canonical gamma-delta T cell receptor and is involved in the regulation of wound healing IMPC:Saran CL:0000916 anomaly in the number of T cells with dendritic appearance residing in the skin epidermis, usually expressing a canonical gamma-delta T cell receptor and is involved in the regulation of wound healing MPheno.ontology MP:0013408 abnormal dendritic epidermal T cell number MP:0013408 anomaly in the number of T cells with dendritic appearance residing in the skin epidermis, usually expressing a canonical gamma-delta T cell receptor and is involved in the regulation of wound healing CL:0000916 https://orcid.org/0000-0002-6181-4695 increase in the number of T cells with dendritic appearance residing in the skin epidermis, usually expressing a canonical gamma-delta T cell receptor and is involved in the regulation of wound healing MPheno.ontology MP:0013409 increased dendritic epidermal T cell number MP:0013409 increase in the number of T cells with dendritic appearance residing in the skin epidermis, usually expressing a canonical gamma-delta T cell receptor and is involved in the regulation of wound healing CL:0000916 https://orcid.org/0000-0002-6181-4695 reduction in the number of T cells with dendritic appearance residing in the skin epidermis, usually expressing a canonical gamma-delta T cell receptor and is involved in the regulation of wound healing MPheno.ontology MP:0013410 decreased dendritic epidermal T cell number MP:0013410 reduction in the number of T cells with dendritic appearance residing in the skin epidermis, usually expressing a canonical gamma-delta T cell receptor and is involved in the regulation of wound healing CL:0000916 https://orcid.org/0000-0002-6181-4695 anomaly in the number of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus MPheno.ontology MP:0013411 abnormal Langerhans cell number MP:0013411 anomaly in the number of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus IMPC:Saran ISBN:0781735149 increase in the number of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus MPheno.ontology MP:0013412 increased Langerhans cell number MP:0013412 increase in the number of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus IMPC:Saran ISBN:0781735149 any anomaly in the number of CD45+ CD11b+ GR1- myeloid cells in the bone marrow MPheno.ontology MP:0013413 abnormal myeloid cell number in bone marrow MP:0013413 any anomaly in the number of CD45+ CD11b+ GR1- myeloid cells in the bone marrow IMPC:Saran reduction in the number of CD45+ CD11b+ GR1- myeloid cells in the bone marrow MPheno.ontology MP:0013414 decreased myeloid cell number in bone marrow MP:0013414 reduction in the number of CD45+ CD11b+ GR1- myeloid cells in the bone marrow IMPC:Saran increase in the number of CD45+ CD11b+ GR1- myeloid cells in the bone marrow MPheno.ontology MP:0013415 increased myeloid cell number in bone marrow MP:0013415 increase in the number of CD45+ CD11b+ GR1- myeloid cells in the bone marrow IMPC:Saran anomaly in the number of memory-marker gamma-delta T cells with a CD44+ CD62L- phenotype MPheno.ontology MP:0013416 abnormal memory-marker gamma-delta T cell number MP:0013416 anomaly in the number of memory-marker gamma-delta T cells with a CD44+ CD62L- phenotype IMPC:Saran PMID:23928962 reduction in the number of memory-marker gamma-delta T cells with a CD44+ CD62L- phenotype reduced memory-marker gamma-delta T cell number MPheno.ontology MP:0013417 decreased memory-marker gamma-delta T cell number MP:0013417 reduction in the number of memory-marker gamma-delta T cells with a CD44+ CD62L- phenotype IMPC:Saran PMID:23928962 increase in the number of memory-marker gamma-delta T cells with a CD44+ CD62L- phenotype MPheno.ontology MP:0013418 increased memory-marker gamma-delta T cell number MP:0013418 increase in the number of memory-marker gamma-delta T cells with a CD44+ CD62L- phenotype IMPC:Saran PMID:23928962 anomaly in the number of CD5+ gamma-delta T cells MPheno.ontology MP:0013419 abnormal CD5-positive gamma-delta T cell number MP:0013419 anomaly in the number of CD5+ gamma-delta T cells IMPC:Saran PMID:23928962 reduction in the number of CD5+ gamma-delta T cells reduced CD5-positive gamma-delta T cell number MPheno.ontology MP:0013420 decreased CD5-positive gamma-delta T cell number MP:0013420 reduction in the number of CD5+ gamma-delta T cells IMPC:Saran increase in the number of CD5+ gamma-delta T cells MPheno.ontology MP:0013421 increased CD5-positive gamma-delta T cell number MP:0013421 increase in the number of CD5+ gamma-delta T cells IMPC:Saran anomaly in the number of gamma-delta T cells positive for KLRG1, a marker associated with activation MPheno.ontology MP:0013422 abnormal KLRG1-positive gamma-delta T cell number MP:0013422 anomaly in the number of gamma-delta T cells positive for KLRG1, a marker associated with activation IMPC:Saran PMID:19479342 reduction in the number of gamma-delta T cells positive for KLRG1, a marker associated with activation reduced KLRG+ gamma-delta T cell number MPheno.ontology MP:0013423 decreased KLRG1-positive gamma-delta T cell number MP:0013423 reduction in the number of gamma-delta T cells positive for KLRG1, a marker associated with activation IMPC:Saran PMID:19479342 increase in the number of gamma-delta T cells positive for KLRG1, a marker associated with activation MPheno.ontology MP:0013424 increased KLRG1-positive gamma-delta T cell number MP:0013424 increase in the number of gamma-delta T cells positive for KLRG1, a marker associated with activation IMPC:Saran PMID:19479342 anomaly in the number of memory-marker NK cells with a CD44+ CD62L- phenotype MPheno.ontology MP:0013425 abnormal memory-marker NK cell number MP:0013425 anomaly in the number of memory-marker NK cells with a CD44+ CD62L- phenotype IMPC:Saran reduction in the number of memory-marker NK cells with a CD44+ CD62L- phenotype reduced memory-marker NK cell number MPheno.ontology MP:0013426 decreased memory-marker NK cell number MP:0013426 reduction in the number of memory-marker NK cells with a CD44+ CD62L- phenotype IMPC:Saran increase in the number of memory-marker NK cells with a CD44+ CD62L- phenotype MPheno.ontology MP:0013427 increased memory-marker NK cell number MP:0013427 increase in the number of memory-marker NK cells with a CD44+ CD62L- phenotype IMPC:Saran anomaly in the number of the CD4+, CD25+ alpha-beta regulatory T cells with a CD44+ CD62L- memory phenotype MPheno.ontology MP:0013428 abnormal memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number MP:0013428 anomaly in the number of the CD4+, CD25+ alpha-beta regulatory T cells with a CD44+ CD62L- memory phenotype IMPC:Saran reduction in the number of the CD4+, CD25+ alpha-beta regulatory T cells with a CD44+ CD62L- memory phenotype MPheno.ontology MP:0013429 decreased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number MP:0013429 reduction in the number of the CD4+, CD25+ alpha-beta regulatory T cells with a CD44+ CD62L- memory phenotype IMPC:Saran increase in the number of the CD4+, CD25+ alpha-beta regulatory T cells with a CD44+ CD62L- memory phenotype MPheno.ontology MP:0013430 increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number MP:0013430 increase in the number of the CD4+, CD25+ alpha-beta regulatory T cells with a CD44+ CD62L- memory phenotype IMPC:Saran anomaly in the number of KLRG1+ CD4+, CD25+, alpha-beta regulatory T cell number positive for KLRG1, a marker associated with activation MPheno.ontology MP:0013431 abnormal KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number MP:0013431 anomaly in the number of KLRG1+ CD4+, CD25+, alpha-beta regulatory T cell number positive for KLRG1, a marker associated with activation IMPC:Saran PMID:19479342 reduction in the number of KLRG1+ CD4+, CD25+, alpha-beta regulatory T cell number positive for KLRG1, a marker associated with activation MPheno.ontology MP:0013432 decreased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number MP:0013432 reduction in the number of KLRG1+ CD4+, CD25+, alpha-beta regulatory T cell number positive for KLRG1, a marker associated with activation IMPC:Saran PMID:19479342 increase in the number of KLRG1+ CD4+, CD25+, alpha-beta regulatory T cell number positive for KLRG1, a marker associated with activation MPheno.ontology MP:0013433 increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number MP:0013433 increase in the number of KLRG1+ CD4+, CD25+, alpha-beta regulatory T cell number positive for KLRG1, a marker associated with activation IMPC:Saran PMID:19479342 anomaly in the number of the naïve regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions with a CD44-low CD62L+ phenotype MPheno.ontology MP:0013434 abnormal CD8-positive, naive alpha-beta T cell number MP:0013434 anomaly in the number of the naïve regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions with a CD44-low CD62L+ phenotype IMPC:Saran reduction in the number of the naïve regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions with a CD44-low CD62L+ phenotype reduced CD8-positive, naive alpha-beta T cell number MPheno.ontology MP:0013435 decreased CD8-positive, naive alpha-beta T cell number MP:0013435 reduction in the number of the naïve regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions with a CD44-low CD62L+ phenotype IMPC:Saran increase in the number of the naïve regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions with a CD44-low CD62L+ phenotype MPheno.ontology MP:0013436 increased CD8-positive, naive alpha-beta T cell number MP:0013436 increase in the number of the naïve regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions with a CD44-low CD62L+ phenotype IMPC:Saran decreased amount of plant sterols often as a result of hyperabsorbtion of phytosterols and decreased biliary excretion of dietary sterols; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol decreased plant sterol level reduced phytosterol level reduced plant sterol level MPheno.ontology MP:0013437 decreased phytosterol level MP:0013437 decreased amount of plant sterols often as a result of hyperabsorbtion of phytosterols and decreased biliary excretion of dietary sterols; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol ISBN:0-683-40008-8 reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin hypomyelination reduced myelination MPheno.ontology MP:0013438 Dysmyelination refers to malformed and defective myelin sheath as opposed to the destruction of previously normal myelin that is seen in demyelination. Dysmyelination disorders often arise from hereditary mutations that affect the synthesis and formation of myelin. dysmyelination MP:0013438 reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin https://orcid.org/0000-0003-3691-0324 aberrant formation or incomplete differentiation of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane; in rodents, the Harderian gland originates from the nasal part of the conjunctival epithelium at E16 and forms a branched structure behind the eyeball; in contrast to the acinar morphology of the lacrimal gland, the Harderian gland has a tubulo-alveolar organization and is composed exclusively of one type of secretory cell; in primates, the HG is either absent or vestigial Harderian gland dysgenesis MPheno.ontology MP:0013439 Note that the Harderian gland is found in all terrestrial vertebrate groups, including amphibia, reptiles, birds, and mammals. However, it appears to be absent in certain mammals such as bats, cows, horses, and higher primates. Though largely absent in the adult human, it is present in the fetal and neonatal stages abnormal Harderian gland development MP:0013439 aberrant formation or incomplete differentiation of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane; in rodents, the Harderian gland originates from the nasal part of the conjunctival epithelium at E16 and forms a branched structure behind the eyeball; in contrast to the acinar morphology of the lacrimal gland, the Harderian gland has a tubulo-alveolar organization and is composed exclusively of one type of secretory cell; in primates, the HG is either absent or vestigial https://orcid.org/0000-0002-6490-7723 any structural anomaly of the large exorbital (extra-orbital) lacrimal glands that are located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland abnormal extra-orbital lacrimal gland morphology MPheno.ontology MP:0013440 The mouse has two pairs of lacrimal glands. The larger exorbital (extra-orbital) glands are located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland; the smaller intra-orbital glands are located superficially at the lateral canthus, where both the lacrimal gland and Harderian gland ducts open abnormal exorbital lacrimal gland morphology MP:0013440 any structural anomaly of the large exorbital (extra-orbital) lacrimal glands that are located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland ISBN:0123813611 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the small intra-orbital lacrimal glands that are located superficially at the lateral canthus, where both the lacrimal gland and Harderian gland ducts open MPheno.ontology MP:0013441 The mouse has two pairs of lacrimal glands. The larger exorbital (extra-orbital) glands are located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland; the smaller intra-orbital glands are located superficially at the lateral canthus, where both the lacrimal gland and Harderian gland ducts open abnormal intraorbital lacrimal gland morphology MP:0013441 any structural anomaly of the small intra-orbital lacrimal glands that are located superficially at the lateral canthus, where both the lacrimal gland and Harderian gland ducts open ISBN:0123813611 https://orcid.org/0000-0002-6490-7723 anomaly in the average size of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane MPheno.ontology MP:0013442 abnormal Harderian gland size MP:0013442 anomaly in the average size of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the Harderian gland, typically resulting in increased size hyperplastic Harderian gland MPheno.ontology MP:0013443 Harderian gland hyperplasia MP:0013443 increase in the number of normal cells in normal arrangement in the Harderian gland, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the Harderian gland, typically resulting in decreased size hypoplastic Harderian gland MPheno.ontology MP:0013444 Harderian gland hypoplasia MP:0013444 decrease in the number of normal cells in normal arrangement in the Harderian gland, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of the sebaceous gland that is located behind the eyeball and excretes fluid that facilitates movement of the nictitating membrane, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes atrophic Harderian gland MPheno.ontology MP:0013445 Harderian gland atrophy MP:0013445 acquired diminution of the size of the sebaceous gland that is located behind the eyeball and excretes fluid that facilitates movement of the nictitating membrane, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 increased size of the sebaceous gland that is located behind the eyeball and excretes fluid that facilitates movement of the nictitating membrane increased Harderian gland size MPheno.ontology MP:0013446 enlarged Harderian gland MP:0013446 increased size of the sebaceous gland that is located behind the eyeball and excretes fluid that facilitates movement of the nictitating membrane https://orcid.org/0000-0002-6490-7723 increase in the bulk size, due to cell enlargement, of the sebaceous gland that is located behind the eyeball and excretes fluid that facilitates movement of the nictitating membrane hypertrophic Harderian gland MPheno.ontology MP:0013447 Harderian gland hypertrophy MP:0013447 increase in the bulk size, due to cell enlargement, of the sebaceous gland that is located behind the eyeball and excretes fluid that facilitates movement of the nictitating membrane https://orcid.org/0000-0002-6490-7723 decreased size of the sebaceous gland that is located behind the eyeball and excretes fluid that facilitates movement of the nictitating membrane decreased Harderian gland size reduced Harderian gland size MPheno.ontology MP:0013448 small Harderian gland MP:0013448 decreased size of the sebaceous gland that is located behind the eyeball and excretes fluid that facilitates movement of the nictitating membrane https://orcid.org/0000-0002-6490-7723 any structural anomaly of the small cistern-like area of the conjunctiva at the medial angle of the eye, in which the tears collect after bathing the front surface of the eyeball and the conjunctival sac abnormal lacrymal lake morphology MPheno.ontology MP:0013449 abnormal lacrimal lake morphology MP:0013449 any structural anomaly of the small cistern-like area of the conjunctiva at the medial angle of the eye, in which the tears collect after bathing the front surface of the eyeball and the conjunctival sac https://orcid.org/0000-0002-6490-7723 any functional anomaly of the network of orbital structures of the eye that secrete and drain tears from the surface of the eyeball into the nasal cavity; these parts include the lacrimal glands, lacrimal lake, lacrimal ducts, lacrimal canals, lacrimal sacs, nasolacrimal ducts, and lacrimal puncta abnormal apparatus lacrimalis physiology abnormal lacrimal system physiology abnormal lacrymal system physiology lacrimal drainage dysfunction lacrymal drainage dysfunction MPheno.ontology MP:0013450 abnormal lacrimal apparatus physiology MP:0013450 any functional anomaly of the network of orbital structures of the eye that secrete and drain tears from the surface of the eyeball into the nasal cavity; these parts include the lacrimal glands, lacrimal lake, lacrimal ducts, lacrimal canals, lacrimal sacs, nasolacrimal ducts, and lacrimal puncta https://orcid.org/0000-0002-6490-7723 any impediment or blockage of the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity; may be either congenital or acquired; obstruction of the nasolacrimal duct leads to the excess overflow of tears called epiphora nasolacrimal duct occlusion nasolacrymal duct obstruction nasolacrymal duct occlusion tear-duct blockage MPheno.ontology MP:0013451 nasolacrimal duct obstruction MP:0013451 any impediment or blockage of the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity; may be either congenital or acquired; obstruction of the nasolacrimal duct leads to the excess overflow of tears called epiphora https://orcid.org/0000-0002-6490-7723 increase in the number of cells of the lacrimal gland undergoing programmed cell death increased lachrymal gland apoptosis MPheno.ontology MP:0013452 increased lacrimal gland apoptosis MP:0013452 increase in the number of cells of the lacrimal gland undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increased size of any of the paired glands that secrete the aqueous layer of the tear film increased lacrimal gland size increased lacrymal gland size MPheno.ontology MP:0013453 enlarged lacrimal gland MP:0013453 increased size of any of the paired glands that secrete the aqueous layer of the tear film https://orcid.org/0000-0002-6490-7723 increase in the bulk size of any of the paired glands that secrete the aqueous layer of the tear film due to cell enlargement hypertrophic lacrimal gland hypertrophic lacrymal gland lacrymal gland hypertrophy MPheno.ontology MP:0013454 lacrimal gland hypertrophy MP:0013454 increase in the bulk size of any of the paired glands that secrete the aqueous layer of the tear film due to cell enlargement https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of any of the paired glands that secrete the aqueous layer of the tear film, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes atrophic lacrimal gland atrophic lacrymal gland lacrymal gland atrophy MPheno.ontology MP:0013455 lacrimal gland atrophy MP:0013455 acquired diminution of the size of any of the paired glands that secrete the aqueous layer of the tear film, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 aberration in the number of the coiled tubular glands normally situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans; in mice these are the only sweat glands present MPheno.ontology MP:0013456 abnormal eccrine gland number MP:0013456 aberration in the number of the coiled tubular glands normally situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans; in mice these are the only sweat glands present https://orcid.org/0000-0002-6490-7723 greater than normal numbers of the coiled tubular glands situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans; in mice these are the only sweat glands present supernumerary eccrine glands MPheno.ontology MP:0013457 increased eccrine gland number MP:0013457 greater than normal numbers of the coiled tubular glands situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans; in mice these are the only sweat glands present https://orcid.org/0000-0002-6490-7723 fewer than normal numbers of the coiled tubular glands situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans; in mice these are the only sweat glands present reduced eccrine gland number MPheno.ontology MP:0013458 decreased eccrine gland number MP:0013458 fewer than normal numbers of the coiled tubular glands situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans; in mice these are the only sweat glands present https://orcid.org/0000-0002-6490-7723 an inflammatory skin condition characterized by multiple small papules, pustules and vesicles localized to the perioral skin (around the mouth), perinasal or nasolabial folds (around the nostrils), or periocular area (around the eyes) periorifical dermatitis MPheno.ontology MP:0013459 perioral dermatitis MP:0013459 an inflammatory skin condition characterized by multiple small papules, pustules and vesicles localized to the perioral skin (around the mouth), perinasal or nasolabial folds (around the nostrils), or periocular area (around the eyes) http://en.wikipedia.org/wiki/Perioral_dermatitis inflammation of the skin on the eyelids and around the eyes; a variant of perioral dermatitis periorbital dermatitis MPheno.ontology MP:0013460 periocular dermatitis MP:0013460 inflammation of the skin on the eyelids and around the eyes; a variant of perioral dermatitis https://orcid.org/0000-0002-6490-7723 any structural anomaly of the space formed by the junction of the bulbar and palpebral portions of the conjunctiva, that of the upper lid being the superior conjunctival fornix (fornix conjunctivae superior) and that of the lower lid, the inferior conjunctival fornix (fornix conjunctivae inferior); the fornix is loose and flexible, allowing the free movement of the lids and eyeball abnormal conjunctival cul-de-sac morphology abnormal conjunctival fornix morphology abnormal fornix conjunctiva morphology abnormal fornix conjunctivae morphology abnormal retrotarsal fold morphology MPheno.ontology MP:0013461 abnormal conjunctiva fornix morphology MP:0013461 any structural anomaly of the space formed by the junction of the bulbar and palpebral portions of the conjunctiva, that of the upper lid being the superior conjunctival fornix (fornix conjunctivae superior) and that of the lower lid, the inferior conjunctival fornix (fornix conjunctivae inferior); the fornix is loose and flexible, allowing the free movement of the lids and eyeball https://orcid.org/0000-0002-6490-7723 aberration in the number of the mucin-secreting cells found on the conjunctival epithelium; changes in goblet cell numbers are associated with alterations in tear mucin level abnormal conjunctival goblet cell count abnormal conjunctival goblet cell number MPheno.ontology MP:0013462 abnormal conjunctiva goblet cell number MP:0013462 aberration in the number of the mucin-secreting cells found on the conjunctival epithelium; changes in goblet cell numbers are associated with alterations in tear mucin level https://orcid.org/0000-0002-6490-7723 greater than normal numbers of the mucin-secreting cells found on the conjunctival epithelium increased conjunctival goblet cell count increased conjunctival goblet cell number MPheno.ontology MP:0013463 increased conjunctiva goblet cell number MP:0013463 greater than normal numbers of the mucin-secreting cells found on the conjunctival epithelium https://orcid.org/0000-0002-6490-7723 fewer than normal numbers of the mucin-secreting cells found on the conjunctival epithelium; goblet cell loss has been reported in several inflammatory diseases of the ocular surface, including Stevens-Johnson syndrome, ocular mucous membrane pemphigoid, alkali burn, neutrophilic keratitis, graft-versus-host-disease, and Sjogrens's syndrome conjunctiva goblet cell depletion conjunctiva goblet cell loss reduced conjunctival goblet cell count reduced conjunctival goblet cell number MPheno.ontology MP:0013464 decreased conjunctiva goblet cell number MP:0013464 fewer than normal numbers of the mucin-secreting cells found on the conjunctival epithelium; goblet cell loss has been reported in several inflammatory diseases of the ocular surface, including Stevens-Johnson syndrome, ocular mucous membrane pemphigoid, alkali burn, neutrophilic keratitis, graft-versus-host-disease, and Sjogrens's syndrome https://orcid.org/0000-0002-6490-7723 abnormal or arrested formation of the mucin-secreting cells of the conjunctival epithelium from conjunctival precursor/stem cells; in mice, mucin-rich goblet cells normally emerge from the conjunctival epithelium around P7-P9, increase in number and form goblet cell clusters between the second and third week of postnatal development impaired conjunctiva goblet cell formation MPheno.ontology MP:0013465 abnormal conjunctiva goblet cell differentiation MP:0013465 abnormal or arrested formation of the mucin-secreting cells of the conjunctival epithelium from conjunctival precursor/stem cells; in mice, mucin-rich goblet cells normally emerge from the conjunctival epithelium around P7-P9, increase in number and form goblet cell clusters between the second and third week of postnatal development https://orcid.org/0000-0002-6490-7723 inflammation of the cornea and conjuctiva caused by eye dryness which, in turn, is caused by either decreased tear production or increased tear film evaporation dry eye syndrome keratitis sicca MPheno.ontology MP:0013466 keratoconjunctivitis sicca MP:0013466 inflammation of the cornea and conjuctiva caused by eye dryness which, in turn, is caused by either decreased tear production or increased tear film evaporation https://orcid.org/0000-0002-6490-7723 inflammation of the diaphragm diaphragm inflammation phrenitis MPheno.ontology MP:0013467 diaphragmitis MP:0013467 inflammation of the diaphragm https://orcid.org/0000-0002-6490-7723 shedding of red or blood-stained tears due to continuous or excessive secretion of porphyrin from the Harderian gland; as these secretions overflow from the eye and drain through the nasal passages to exit the nares dark rust-colored staining, or crust, can be seen around the eyes and nostrils; these secretions may be transferred to the paws and muzzle during grooming; red tears may be associated with nutritional deficiencies, chronic physiological stress, chronic light exposure, or dacryoadenitis bloody tears red lacrimal secretion red tears MPheno.ontology MP:0013468 chromodacryorrhea MP:0013468 shedding of red or blood-stained tears due to continuous or excessive secretion of porphyrin from the Harderian gland; as these secretions overflow from the eye and drain through the nasal passages to exit the nares dark rust-colored staining, or crust, can be seen around the eyes and nostrils; these secretions may be transferred to the paws and muzzle during grooming; red tears may be associated with nutritional deficiencies, chronic physiological stress, chronic light exposure, or dacryoadenitis PMID:8995755 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the single bud-like invagination of the conjunctival fornix epithelium at the temporal aspect of the eye that signals lacrimal gland formation; in mouse, the primary bud arises around E13.5 and extends caudally into the surrounding neural-crest derived periocular mesenchyme; between E15.5 and E16.5 the bud undergoes branching morphogenesis, forming both a major extra-orbital lobe and a minor intraorbital lobe MPheno.ontology MP:0013469 abnormal lacrimal gland bud morphology MP:0013469 any structural anomaly of the single bud-like invagination of the conjunctival fornix epithelium at the temporal aspect of the eye that signals lacrimal gland formation; in mouse, the primary bud arises around E13.5 and extends caudally into the surrounding neural-crest derived periocular mesenchyme; between E15.5 and E16.5 the bud undergoes branching morphogenesis, forming both a major extra-orbital lobe and a minor intraorbital lobe https://orcid.org/0000-0002-6490-7723 absence of the single bud-like invagination of the conjunctival fornix epithelium at the temporal aspect of the eye that signals lacrimal gland formation; in mouse, the primary bud arises around E13.5 and extends caudally into the surrounding neural-crest derived periocular mesenchyme at E14.5 absent lacrimal bud MPheno.ontology MP:0013470 absent lacrimal gland bud MP:0013470 absence of the single bud-like invagination of the conjunctival fornix epithelium at the temporal aspect of the eye that signals lacrimal gland formation; in mouse, the primary bud arises around E13.5 and extends caudally into the surrounding neural-crest derived periocular mesenchyme at E14.5 https://orcid.org/0000-0002-6490-7723 reduced size of the single bud-like invagination of the conjunctival fornix epithelium at the temporal aspect of the eye that signals lacrimal gland formation; in mouse, the primary bud arises around E13.5 and extends caudally into the surrounding neural-crest derived periocular mesenchyme at E14.5; following elongation, the bud invades the mesenchymal sac at E16.5 and begins a period of rapid growth and branching to form prospective lobular structures: the intra- and ex-orbital lobes decreased lacrimal gland bud size reduced lacrimal gland bud size MPheno.ontology MP:0013471 small lacrimal gland bud MP:0013471 reduced size of the single bud-like invagination of the conjunctival fornix epithelium at the temporal aspect of the eye that signals lacrimal gland formation; in mouse, the primary bud arises around E13.5 and extends caudally into the surrounding neural-crest derived periocular mesenchyme at E14.5; following elongation, the bud invades the mesenchymal sac at E16.5 and begins a period of rapid growth and branching to form prospective lobular structures: the intra- and ex-orbital lobes https://orcid.org/0000-0002-6490-7723 anomaly in the process by which the primary lacrimal bud extends caudally into the surrounding neural-crest derived periocular mesenchyme; in mice, the primary bud formed at E13.5 elongates at E14.5; following elongation, the bud invades the mesenchymal sac at E16.5 and begins a period of rapid growth and branching to form prospective lobular structures: the intra- and ex-orbital lobes MPheno.ontology MP:0013472 abnormal lacrimal gland bud elongation MP:0013472 anomaly in the process by which the primary lacrimal bud extends caudally into the surrounding neural-crest derived periocular mesenchyme; in mice, the primary bud formed at E13.5 elongates at E14.5; following elongation, the bud invades the mesenchymal sac at E16.5 and begins a period of rapid growth and branching to form prospective lobular structures: the intra- and ex-orbital lobes https://orcid.org/0000-0002-6490-7723 lacrimal gland bud(s) are located other than in the normal or expected position ectopic lacrimal budding MPheno.ontology MP:0013473 ectopic lacrimal gland bud MP:0013473 lacrimal gland bud(s) are located other than in the normal or expected position https://orcid.org/0000-0002-6490-7723 anomaly of the lacrimal gland bud to repeatedly divide into lobules during development of the lacrimal gland; in mouse, the primary bud arises around E13.5 and extends caudally into the surrounding neural-crest derived periocular mesenchyme; branching is initiated between E15.5 and E16.5 from the tip of the lacrimal bud; by E18.5, the gland consists of an extensively branched exorbital lobe and a small intraocular lobe derived from a single branch of the proximal duct; branching and differentiation of lacrimal glands is complete by around eyelid opening MPheno.ontology MP:0013474 abnormal lacrimal gland branching morphogenesis MP:0013474 anomaly of the lacrimal gland bud to repeatedly divide into lobules during development of the lacrimal gland; in mouse, the primary bud arises around E13.5 and extends caudally into the surrounding neural-crest derived periocular mesenchyme; branching is initiated between E15.5 and E16.5 from the tip of the lacrimal bud; by E18.5, the gland consists of an extensively branched exorbital lobe and a small intraocular lobe derived from a single branch of the proximal duct; branching and differentiation of lacrimal glands is complete by around eyelid opening https://orcid.org/0000-0002-6490-7723 loss of reproductive capacity occurring at a later than expected age; often accompanied by inability to carry offspring to term MPheno.ontology MP:0013475 delayed reproductive senescence MP:0013475 loss of reproductive capacity occurring at a later than expected age; often accompanied by inability to carry offspring to term https://orcid.org/0000-0003-3691-0324 anomaly in the production and/or release of porphyrin(s), the pigment(s) responsible for the red discoloration of ocular and/or nasal discharges in rodents; in rats, protoporhyrin IX accounts for most of the porphyrin produced and stored in the Harderian gland; in some rodents the concentration of porphyrins in the Harderian glands varies according to sex and species, and tends to be higher in females than in males MPheno.ontology MP:0013476 abnormal Harderian gland porphyrin secretion MP:0013476 anomaly in the production and/or release of porphyrin(s), the pigment(s) responsible for the red discoloration of ocular and/or nasal discharges in rodents; in rats, protoporhyrin IX accounts for most of the porphyrin produced and stored in the Harderian gland; in some rodents the concentration of porphyrins in the Harderian glands varies according to sex and species, and tends to be higher in females than in males http://ratguide.com/health/eyes/porphyrin_secretions_red_tears.php https://orcid.org/0000-0002-6490-7723 any structural anomaly of the edge of the cornea where it joins the sclera; the limbus is a common site for the occurrence of corneal epithelial neoplasm abnormal corneal limbus morphology abnormal corneo-scleral junction morphology abnormal corneoscleral junction morphology MPheno.ontology MP:0013477 abnormal cornea limbus morphology MP:0013477 any structural anomaly of the edge of the cornea where it joins the sclera; the limbus is a common site for the occurrence of corneal epithelial neoplasm https://orcid.org/0000-0002-6490-7723 inflammation of the corneal limbus cornea limbus inflammation corneo-scleral junction inflammation corneoscleral junction inflammation MPheno.ontology MP:0013478 corneal limbitis MP:0013478 inflammation of the corneal limbus https://orcid.org/0000-0002-6490-7723 inflammation of the sclera, the tough white outer coat of the eyeball; may impair vision and occur in association with systemic collagen diseases such as rheumatoid arthritis, Wegener's granulomatosis and, less often, lupus MPheno.ontology MP:0013479 scleritis MP:0013479 inflammation of the sclera, the tough white outer coat of the eyeball; may impair vision and occur in association with systemic collagen diseases such as rheumatoid arthritis, Wegener's granulomatosis and, less often, lupus https://orcid.org/0000-0002-6490-7723 inflammation of the ciliary body of the eye ciliary body inflammation MPheno.ontology MP:0013480 cyclitis MP:0013480 inflammation of the ciliary body of the eye https://orcid.org/0000-0002-6490-7723 any structural anomaly of the intestinal crypts located in the mucosa of the ileum, the portion of the small intestine that extends from the jejunum to the colon abnormal ileal crypt morphology abnormal ileum crypt morphology MPheno.ontology MP:0013481 abnormal ileum crypts of Lieberkuhn morphology MP:0013481 any structural anomaly of the intestinal crypts located in the mucosa of the ileum, the portion of the small intestine that extends from the jejunum to the colon https://orcid.org/0000-0002-6490-7723 any structural anomaly of the intestinal crypts located in the mucosa of the duodenum, the first division of the small intestine that extends from the pyloris to the junction with the jejunum abnormal duodenal crypt morphology abnormal duodenum crypt morphology MPheno.ontology MP:0013482 abnormal duodenum crypts of Lieberkuhn morphology MP:0013482 any structural anomaly of the intestinal crypts located in the mucosa of the duodenum, the first division of the small intestine that extends from the pyloris to the junction with the jejunum https://orcid.org/0000-0002-6490-7723 any structural anomaly of the intestinal crypts located in the mucosa of the jejunum, the portion of the small intestine that extends from the duodenum to the ileum abnormal jejunum crypt morphology MPheno.ontology MP:0013483 abnormal jejunum crypts of Lieberkuhn morphology MP:0013483 any structural anomaly of the intestinal crypts located in the mucosa of the jejunum, the portion of the small intestine that extends from the duodenum to the ileum https://orcid.org/0000-0002-6490-7723 anomaly in the number of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine abnormal Davidoff cell number abnormal Paneth granule cell number MPheno.ontology MP:0013484 abnormal Paneth cell number MP:0013484 anomaly in the number of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine PMID:23398152 greater than normal numbers of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine increased Davidoff cell number increased Paneth granule cell number MPheno.ontology MP:0013485 increased Paneth cell number MP:0013485 greater than normal numbers of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine https://orcid.org/0000-0002-6490-7723 fewer than normal numbers of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine decreased Davidoff cell number decreased Paneth granule cell number reduced Davidoff cell number reduced Paneth cell number reduced Paneth granule cell number MPheno.ontology MP:0013486 decreased Paneth cell number MP:0013486 fewer than normal numbers of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine https://orcid.org/0000-0002-6490-7723 any functional anomaly of the large secretory cells found at the base of the crypts of Lieberkuhn in the small intestine; Paneth cells contribute to the mucosal defense mechanism through the secretion of granules filled with antimicrobial (poly)peptides such as lysozyme, phospholipase A2, and defensins (called cryptdins in mice); Paneth cells secrete factors that help sustain and modulate the epithelial stem and progenitor cells that cohabitate in the crypts of Lieberkuhn and rejuvenate the small intestinal epithelium; dysfunction of Paneth cell biology contributes to the pathogenesis of chronic inflammatory bowel disease abnormal Davidoff cell physiology abnormal Paneth granule cell physiology MPheno.ontology MP:0013487 abnormal Paneth cell physiology MP:0013487 any functional anomaly of the large secretory cells found at the base of the crypts of Lieberkuhn in the small intestine; Paneth cells contribute to the mucosal defense mechanism through the secretion of granules filled with antimicrobial (poly)peptides such as lysozyme, phospholipase A2, and defensins (called cryptdins in mice); Paneth cells secrete factors that help sustain and modulate the epithelial stem and progenitor cells that cohabitate in the crypts of Lieberkuhn and rejuvenate the small intestinal epithelium; dysfunction of Paneth cell biology contributes to the pathogenesis of chronic inflammatory bowel disease PMID:23398152 greater than the expected number of low-grade skin tumors that originate in the pilosebaceous glands and closely resemble squamous cell carcinoma, occurring in a specific population in a given time period; keratoacanthomas are spontaneously regressing growths that rarely develop into invasive or metastatic carcinoma; in rare instances, multiple keratoacanthomas are associated with a disease process called Muir-Torre syndrome MPheno.ontology MP:0013488 increased keratoacanthoma incidence MP:0013488 greater than the expected number of low-grade skin tumors that originate in the pilosebaceous glands and closely resemble squamous cell carcinoma, occurring in a specific population in a given time period; keratoacanthomas are spontaneously regressing growths that rarely develop into invasive or metastatic carcinoma; in rare instances, multiple keratoacanthomas are associated with a disease process called Muir-Torre syndrome https://orcid.org/0000-0002-6490-7723 any structural anomaly of the funnel-shaped diverticulum that extends downward from the anterior aspect of the floor of the third ventricle into the infundibulum of the hypophysis; the embryonic structure gives rise the neural component of the pituitary (pas nervosa) abnormal infundibular recess morphology abnormal infundibular recess of 3rd ventricle morphology abnormal recessus infundibularis morphology abnormal recessus infundibuli morphology MPheno.ontology MP:0013489 abnormal infundibular recess of third ventricle morphology MP:0013489 any structural anomaly of the funnel-shaped diverticulum that extends downward from the anterior aspect of the floor of the third ventricle into the infundibulum of the hypophysis; the embryonic structure gives rise the neural component of the pituitary (pas nervosa) PMID:21345181 https://orcid.org/0000-0002-6490-7723 absence of the funnel-shaped diverticulum that normally extends downward from the anterior aspect of the floor of the third ventricle into the infundibulum of the hypophysis; the embryonic structure gives rise the neural component of the pituitary (pas nervosa) absent infundibular recess absent infundibular recess of 3rd ventricle absent recessus infundibularis absent recessus infundibuli MPheno.ontology MP:0013490 absent infundibular recess of third ventricle MP:0013490 absence of the funnel-shaped diverticulum that normally extends downward from the anterior aspect of the floor of the third ventricle into the infundibulum of the hypophysis; the embryonic structure gives rise the neural component of the pituitary (pas nervosa) https://orcid.org/0000-0002-6490-7723 any structural anomaly of the dilated terminal portions of neurosecretory axons constituting the hypothalamohypophyseal tract, found in close proximity to sinusoidal capillaries in the posterior pituitary; Herring bodies consist of aggregates of membrane-bound neurosecretory vesicles where oxytocin or antidiuretic hormone (ADH) are stored prior to release; each Herring body also contains ATP and either neurophysin I or neurophysin II which bind to oxytocin and ADH, respectively abnormal Herring bodies abnormal neurosecretory body morphology MPheno.ontology MP:0013491 abnormal Herring body morphology MP:0013491 any structural anomaly of the dilated terminal portions of neurosecretory axons constituting the hypothalamohypophyseal tract, found in close proximity to sinusoidal capillaries in the posterior pituitary; Herring bodies consist of aggregates of membrane-bound neurosecretory vesicles where oxytocin or antidiuretic hormone (ADH) are stored prior to release; each Herring body also contains ATP and either neurophysin I or neurophysin II which bind to oxytocin and ADH, respectively ISBN:0199652473 http://en.wikipedia.org/wiki/Herring_bodies https://orcid.org/0000-0002-6490-7723 any lesion of the oral mucosa that presents as bright red plaques or macules with a soft and velvety texture and well-demarcated borders, commonly found in the floor of the mouth, buccal vestibule, the tongue, and the soft palate; an adjacent area of leukoplakia may be found along with the erythroplakia; although erythroplakia is much less common than leukoplakia, erythroplakia carries a significantly higher risk containing dysplasia or carcinoma in situ, and of eventually transforming into invasive squamous cell carcinoma (e.g. oral cancer) MPheno.ontology MP:0013492 oral erythroplakia MP:0013492 any lesion of the oral mucosa that presents as bright red plaques or macules with a soft and velvety texture and well-demarcated borders, commonly found in the floor of the mouth, buccal vestibule, the tongue, and the soft palate; an adjacent area of leukoplakia may be found along with the erythroplakia; although erythroplakia is much less common than leukoplakia, erythroplakia carries a significantly higher risk containing dysplasia or carcinoma in situ, and of eventually transforming into invasive squamous cell carcinoma (e.g. oral cancer) http://en.wikipedia.org/wiki/Erythroplakia https://orcid.org/0000-0002-6490-7723 any structural anomaly of the loose fibrous connective tissue located under the tracheal mucosa and composed of abundant blood and lymphatic vessels, diffuse lymphatic tissue and lymphatic nodules, and seromucous tracheal glands; the submucosa ends with the perichondrium of the tracheal cartilages abnormal tracheal submucosa morphology abnormal windpipe submucosa morphology MPheno.ontology MP:0013493 abnormal trachea submucosa morphology MP:0013493 any structural anomaly of the loose fibrous connective tissue located under the tracheal mucosa and composed of abundant blood and lymphatic vessels, diffuse lymphatic tissue and lymphatic nodules, and seromucous tracheal glands; the submucosa ends with the perichondrium of the tracheal cartilages http://www.lab.anhb.uwa.edu.au/mb140/CorePages/Respiratory/respir.htm http://wwwmgs.bionet.nsc.ru/mgs/gnw/trrd/thesaurus/Re/trachea.html https://orcid.org/0000-0002-6490-7723 any structural anomaly of the tubuloacinar seromucous glands located principally in the submucosa of the trachea whose excretory ducts pass through the lamina propria to the tracheal lumen; they secrete mucus, lysozyme, defensins, and other agents that help protect the lungs from particles and infectious agents; in the mouse, they are restricted to the upper trachea, more specifically to the regions between the first few cartilage rings, with the precise distribution depending on genetic background abnormal glandula trachealis morphology abnormal glandulae tracheales morphology abnormal trachea submucosal gland morphology abnormal tracheal gland morphology MPheno.ontology MP:0013494 abnormal trachea gland morphology MP:0013494 any structural anomaly of the tubuloacinar seromucous glands located principally in the submucosa of the trachea whose excretory ducts pass through the lamina propria to the tracheal lumen; they secrete mucus, lysozyme, defensins, and other agents that help protect the lungs from particles and infectious agents; in the mouse, they are restricted to the upper trachea, more specifically to the regions between the first few cartilage rings, with the precise distribution depending on genetic background ISBN:1451113412 PMID:15973734 http://medical-dictionary.thefreedictionary.com/tracheal+glands https://orcid.org/0000-0002-6490-7723 fewer than normal numbers of the tubuloacinar seromucous glands which are principally located in the submucosa of the trachea, open into the tracheal lumen through short ducts, and secrete mucus, lysozyme, defensins, and other agents that help protect the lungs from particles and infectious agents; in the mouse, they are restricted to the upper trachea, more specifically to the regions between the first few cartilage rings, with the precise distribution depending on genetic background decreased glandula trachealis number decreased glandulae tracheales number decreased trachea submucosal gland number decreased tracheal gland number reduced glandula trachealis number reduced glandulae tracheales number reduced trachea submucosal gland number reduced tracheal gland number MPheno.ontology MP:0013495 decreased trachea gland number MP:0013495 fewer than normal numbers of the tubuloacinar seromucous glands which are principally located in the submucosa of the trachea, open into the tracheal lumen through short ducts, and secrete mucus, lysozyme, defensins, and other agents that help protect the lungs from particles and infectious agents; in the mouse, they are restricted to the upper trachea, more specifically to the regions between the first few cartilage rings, with the precise distribution depending on genetic background ISBN:1451113412 PMID:15973734 http://medical-dictionary.thefreedictionary.com/tracheal+glands https://orcid.org/0000-0002-6490-7723 aberrant formation or incomplete differentiation of the tube descending from the larynx and branching into the right and left main bronchi abnormal tracheal development abnormal windpipe development MPheno.ontology MP:0013496 abnormal trachea development MP:0013496 aberrant formation or incomplete differentiation of the tube descending from the larynx and branching into the right and left main bronchi https://orcid.org/0000-0002-6490-7723 any impediment or blockage of the tube descending from the larynx and branching into the right and left main bronchi tracheal occlusion windpipe occlusion MPheno.ontology MP:0013497 trachea occlusion MP:0013497 any impediment or blockage of the tube descending from the larynx and branching into the right and left main bronchi https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in the trachea tracheal inflammation tracheitis MPheno.ontology MP:0013498 trachea inflammation MP:0013498 local accumulation of fluid, plasma proteins, and leukocytes in the trachea https://orcid.org/0000-0002-6490-7723 invasion of fibrous connective tissue into the trachea, often resulting from inflammation or injury tracheal fibrosis MPheno.ontology MP:0013499 trachea fibrosis MP:0013499 invasion of fibrous connective tissue into the trachea, often resulting from inflammation or injury https://orcid.org/0000-0002-6490-7723 change in the timing or the number of fibroblast cells undergoing programmed cell death MPheno.ontology MP:0013500 abnormal fibroblast apoptosis MP:0013500 change in the timing or the number of fibroblast cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 increase in the timing or the number of fibroblast cells undergoing programmed cell death MPheno.ontology MP:0013501 increased fibroblast apoptosis MP:0013501 increase in the timing or the number of fibroblast cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 reduction in the timing or the number of fibroblast cells undergoing programmed cell death reduced fibroblast apoptosis MPheno.ontology MP:0013502 decreased fibroblast apoptosis MP:0013502 reduction in the timing or the number of fibroblast cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 change in the timing or the number of cells in embryonic tissue undergoing programmed cell death abnormal embryo apoptosis abnormal embryo tissue cell apoptosis MPheno.ontology MP:0013503 abnormal embryonic tissue cell apoptosis MP:0013503 change in the timing or the number of cells in embryonic tissue undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death increased embryo apoptosis increased embryo tissue cell apoptosis MPheno.ontology MP:0013504 increased embryonic tissue cell apoptosis MP:0013504 increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 decrease in the timing or the number of cells in embryonic tissue undergoing programmed cell death decreased embryo apoptosis decreased embryo tissue cell apoptosis reduced embryo tissue cell apoptosis reduced embryonic tissue cell apoptosis reduced embyro apoptosis MPheno.ontology MP:0013505 decreased embryonic tissue cell apoptosis MP:0013505 decrease in the timing or the number of cells in embryonic tissue undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 change in the timing or the number of cells in ovary tissue undergoing programmed cell death abnormal ovarian apoptosis MPheno.ontology MP:0013506 abnormal ovary apoptosis MP:0013506 change in the timing or the number of cells in ovary tissue undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 increase in the number of ovary cells undergoing programmed cell death elevated ovarian apoptosis elevated ovary apoptosis increased ovarian apoptosis MPheno.ontology MP:0013507 increased ovary apoptosis MP:0013507 increase in the number of ovary cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 increase in the timing or the number of granulsa cells undergoing programmed cell death MPheno.ontology MP:0013508 increased granulosa cell apoptosis MP:0013508 increase in the timing or the number of granulsa cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 anomaly in the number of CD4-negative NK T cells MPheno.ontology MP:0013509 abnormal CD4-negative NK T cell number MP:0013509 anomaly in the number of CD4-negative NK T cells https://orcid.org/0000-0002-6181-4695 reduction in the number of CD4-negative NK T cells reduced CD4-negative NK T cell number MPheno.ontology MP:0013510 decreased CD4-negative NK T cell number MP:0013510 reduction in the number of CD4-negative NK T cells https://orcid.org/0000-0002-6181-4695 increase in the number of CD4-negative NK T cells MPheno.ontology MP:0013511 increased CD4-negative NK T cell number MP:0013511 increase in the number of CD4-negative NK T cells https://orcid.org/0000-0002-6181-4695 anomaly in the number of memory-marker CD4-negative NK T cells with a CD44+ CD62L- phenotype MPheno.ontology MP:0013512 abnormal memory-marker CD4-negative NK T cell number MP:0013512 anomaly in the number of memory-marker CD4-negative NK T cells with a CD44+ CD62L- phenotype https://orcid.org/0000-0002-6181-4695 reduction in the number of memory-marker CD4-negative NK T cells with a CD44+ CD62L- phenotype reduced memory-marker CD4-negative NK T cell number MPheno.ontology MP:0013513 decreased memory-marker CD4-negative NK T cell number MP:0013513 reduction in the number of memory-marker CD4-negative NK T cells with a CD44+ CD62L- phenotype https://orcid.org/0000-0002-6181-4695 increase in the number of memory-marker CD4-negative NK T cells with a CD44+ CD62L- phenotype MPheno.ontology MP:0013514 increased memory-marker CD4-negative NK T cell number MP:0013514 increase in the number of memory-marker CD4-negative NK T cells with a CD44+ CD62L- phenotype https://orcid.org/0000-0002-6181-4695 anomaly in the number of KLRG1-positive CD4-negative NK T cells, a marker associated with activation MPheno.ontology MP:0013515 abnormal KLRG1-positive CD4-negative NK T cell number MP:0013515 anomaly in the number of KLRG1-positive CD4-negative NK T cells, a marker associated with activation https://orcid.org/0000-0002-6181-4695 reduction in the number of KLRG1-positive CD4-negative NK T cells, a marker associated with activation reduced KLRG1-positive CD4-negative NK T cell number MPheno.ontology MP:0013516 decreased KLRG1-positive CD4-negative NK T cell number MP:0013516 reduction in the number of KLRG1-positive CD4-negative NK T cells, a marker associated with activation https://orcid.org/0000-0002-6181-4695 increase in the number of KLRG1-positive CD4-negative NK T cells, a marker associated with activation MPheno.ontology MP:0013517 increased KLRG1-positive CD4-negative NK T cell number MP:0013517 increase in the number of KLRG1-positive CD4-negative NK T cells, a marker associated with activation https://orcid.org/0000-0002-6181-4695 anomaly in the number of CD4-positive NK T cells MPheno.ontology MP:0013518 abnormal CD4-positive NK T cell number MP:0013518 anomaly in the number of CD4-positive NK T cells https://orcid.org/0000-0002-6181-4695 reduction in the number of CD4-positive NK T cells reduced CD4-positive NK T cell number MPheno.ontology MP:0013519 decreased CD4-positive NK T cell number MP:0013519 reduction in the number of CD4-positive NK T cells https://orcid.org/0000-0002-6181-4695 increase in the number of CD4-positive NK T cells MPheno.ontology MP:0013520 increased CD4-positive NK T cell number MP:0013520 increase in the number of CD4-positive NK T cells https://orcid.org/0000-0002-6181-4695 anomaly in the number of memory-marker CD4-positive NK T cells with a CD44+ CD62L- phenotype MPheno.ontology MP:0013521 abnormal memory-marker CD4-positive NK T cell number MP:0013521 anomaly in the number of memory-marker CD4-positive NK T cells with a CD44+ CD62L- phenotype https://orcid.org/0000-0002-6181-4695 reduction in the number of memory-marker CD4-positive NK T cells with a CD44+ CD62L- phenotype reduced memory-marker CD4-positive NK T cell number MPheno.ontology MP:0013522 decreased memory-marker CD4-positive NK T cell number MP:0013522 reduction in the number of memory-marker CD4-positive NK T cells with a CD44+ CD62L- phenotype https://orcid.org/0000-0002-6181-4695 increase in the number of memory-marker CD4-positive NK T cells with a CD44+ CD62L- phenotype MPheno.ontology MP:0013523 increased memory-marker CD4-positive NK T cell number MP:0013523 increase in the number of memory-marker CD4-positive NK T cells with a CD44+ CD62L- phenotype https://orcid.org/0000-0002-6181-4695 anomaly in the number of KLRG1-positive CD4-positive NK T cells, a marker associated with activation MPheno.ontology MP:0013524 abnormal KLRG1-positive CD4-positive NK T cell number MP:0013524 anomaly in the number of KLRG1-positive CD4-positive NK T cells, a marker associated with activation https://orcid.org/0000-0002-6181-4695 reduction in the number of KLRG1-positive CD4-positive NK T cells, a marker associated with activation reduced KLRG1-positive CD4-positive NK T cell number MPheno.ontology MP:0013525 decreased KLRG1-positive CD4-positive NK T cell number MP:0013525 reduction in the number of KLRG1-positive CD4-positive NK T cells, a marker associated with activation https://orcid.org/0000-0002-6181-4695 increase in the number of KLRG1-positive CD4-positive NK T cells, a marker associated with activation MPheno.ontology MP:0013526 increased KLRG1-positive CD4-positive NK T cell number MP:0013526 increase in the number of KLRG1-positive CD4-positive NK T cells, a marker associated with activation https://orcid.org/0000-0002-6181-4695 absence or failure to develop the mucin-secreting cells of the conjunctival epithelium from conjunctival precursor/stem cells; in mice, mucin-rich goblet cells normally emerge from the conjunctival epithelium around P7-P9, increase in number and form goblet cell clusters between the second and third week of postnatal development absent conjunctival goblet cells MPheno.ontology MP:0013527 absent conjunctiva goblet cells MP:0013527 absence or failure to develop the mucin-secreting cells of the conjunctival epithelium from conjunctival precursor/stem cells; in mice, mucin-rich goblet cells normally emerge from the conjunctival epithelium around P7-P9, increase in number and form goblet cell clusters between the second and third week of postnatal development https://orcid.org/0000-0002-6490-7723 presence of one or more fluid-filled cavities (cysts) in the thyroid commonly resulting from degenerating thyroid adenomas; thyroid cysts are usually benign, but they occasionally contain malignant solid components cystic thyroid gland thyroid cyst thyroid cysts thyroid gland cysts MPheno.ontology MP:0013528 thyroid gland cyst MP:0013528 presence of one or more fluid-filled cavities (cysts) in the thyroid commonly resulting from degenerating thyroid adenomas; thyroid cysts are usually benign, but they occasionally contain malignant solid components http://www.mayoclinic.org/diseases-conditions/thyroid-nodules/basics/causes/con-20021546 https://orcid.org/0000-0002-6490-7723 fewer than the expected number of structures located on the apex of the mammary gland on the integument surface into which the lactiferous ducts open; normal female mice have five pairs of mammary glands and nipples (males have no nipples); two pairs of nipples are situated in the abdomino-inguinal region (inguinal group) and three pairs in the ventral thoracic region (pectoral or thoracic group) decreased papilla mammae number decreased teat number decreased thele mammae number decreased thelium mammae number reduced nipple number reduced papilla mammae number reduced teat number reduced thele number reduced thelium number MPheno.ontology MP:0013529 Variation in number and arrangement of nipples is frequent on some mouse strains. For examples, fewer than five pairs are common in strain A females; more than five pairs in BALB/c females (Little, C.C., and H. MacDonald. 1945. Abnormalities of the mammae in the house mouse. J. Hered. 36: 285-288.) decreased nipple number MP:0013529 fewer than the expected number of structures located on the apex of the mammary gland on the integument surface into which the lactiferous ducts open; normal female mice have five pairs of mammary glands and nipples (males have no nipples); two pairs of nipples are situated in the abdomino-inguinal region (inguinal group) and three pairs in the ventral thoracic region (pectoral or thoracic group) http://www.informatics.jax.org/cookbook/figures/figure48.shtml http://www.informatics.jax.org/cookbook/figures/figure50.shtml https://orcid.org/0000-0002-6490-7723 any structural anomaly of the outermost layer of the bilaminar embryonic/fetal epidermis, the first non-basal layer formed at approximately E9.5; it is a temporary structure composed of simple squamous epithelium that serves as the first barrier to the embryo's physical environment, exists throughout the entire keratinocyte stratification process, and sheds off at approximately E17, when it is replaced by corneocytes; desquamated peridermal cells are a considerable component of the vernix caseosa, a white, cheesy, protective substance that covers the fetal skin abnormal epitrichium morphology MPheno.ontology MP:0013530 abnormal periderm morphology MP:0013530 any structural anomaly of the outermost layer of the bilaminar embryonic/fetal epidermis, the first non-basal layer formed at approximately E9.5; it is a temporary structure composed of simple squamous epithelium that serves as the first barrier to the embryo's physical environment, exists throughout the entire keratinocyte stratification process, and sheds off at approximately E17, when it is replaced by corneocytes; desquamated peridermal cells are a considerable component of the vernix caseosa, a white, cheesy, protective substance that covers the fetal skin http://discovery.lifemapsc.com/in-vivo-development/epidermis#section_literature http://medical-dictionary.thefreedictionary.com/periderm https://orcid.org/0000-0002-6490-7723 abnormal formation of the outermost layer of the bilaminar embryonic/fetal epidermis; periderm cells emerge at approximately E9.5 and form simple squamous epithelium, the most superficial embryonic layer; these cells form the first, but temporary, embryonic permeability barrier, and are replaced by the cornified envelope, that forms during keratinocyte stratification, by E16.5 abnormal epitrichium development MPheno.ontology MP:0013531 abnormal periderm development MP:0013531 abnormal formation of the outermost layer of the bilaminar embryonic/fetal epidermis; periderm cells emerge at approximately E9.5 and form simple squamous epithelium, the most superficial embryonic layer; these cells form the first, but temporary, embryonic permeability barrier, and are replaced by the cornified envelope, that forms during keratinocyte stratification, by E16.5 http://discovery.lifemapsc.com/in-vivo-development/epidermis/embryonic-epidermis/periderm-cells https://orcid.org/0000-0002-6490-7723 any functional anomaly of either of the largest of the major salivary glands situated below and in front of each ear abnormal external salivary gland physiology abnormal glandula parotidea physiology abnormal glandula parotis physiology abnormal parotid gland function abnormal parotid physiology MPheno.ontology MP:0013532 abnormal parotid gland physiology MP:0013532 any functional anomaly of either of the largest of the major salivary glands situated below and in front of each ear https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in either of the small mucin-producing salivary glands located in the floor of the mouth beneath the tongue, anterior to the submandibular gland Rivinus gland inflammation sublingual sialadenitis sublingual sialoadenitis MPheno.ontology MP:0013533 sublingual gland inflammation MP:0013533 local accumulation of fluid, plasma proteins, and leukocytes in either of the small mucin-producing salivary glands located in the floor of the mouth beneath the tongue, anterior to the submandibular gland https://orcid.org/0000-0002-6490-7723 any functional anomaly of the three largest glands of the oral cavity that secrete most of the saliva, including the parotid, submandibular, and sublingual glands MPheno.ontology MP:0013534 abnormal major salivary gland physiology MP:0013534 any functional anomaly of the three largest glands of the oral cavity that secrete most of the saliva, including the parotid, submandibular, and sublingual glands ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any functional anomaly of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands MPheno.ontology MP:0013535 abnormal minor salivary gland physiology MP:0013535 any functional anomaly of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands https://orcid.org/0000-0002-6490-7723 any functional anomaly of the small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland abnormal Rivinus gland physiology MPheno.ontology MP:0013536 abnormal sublingual gland physiology MP:0013536 any functional anomaly of the small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland https://orcid.org/0000-0002-6490-7723 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any salivary gland, occurring in a specific population in a given time period MPheno.ontology salivary adenoma MP:0013537 increased salivary gland adenoma incidence MP:0013537 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any salivary gland, occurring in a specific population in a given time period https://orcid.org/0000-0002-6490-7723 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the Harderian gland, occurring in a specific population in a given time period MPheno.ontology Harderian gland adenoma MP:0013538 increased Harderian gland adenoma incidence MP:0013538 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the Harderian gland, occurring in a specific population in a given time period https://orcid.org/0000-0002-6490-7723 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the ovary, occurring in a specific population in a given time period MPheno.ontology ovarian adenoma MP:0013539 increased ovary adenoma incidence MP:0013539 greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the ovary, occurring in a specific population in a given time period https://orcid.org/0000-0002-6490-7723 increase in the number of cells of the submandibular gland undergoing programmed cell death increased maxillary gland apoptosis increased submaxillary gland apoptosis MPheno.ontology MP:0013540 increased submandibular gland apoptosis MP:0013540 increase in the number of cells of the submandibular gland undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 aberrant formation or incomplete differentiation of either of the paired compound tubuloalveolar (aka tubuloacinar) major salivary glands composed of both serous and mucous secretory cells and situated beneath the mandible; in mice, submandibular gland development initiates as a thickening of the oral epithelium; around E12 an initial (single) epithelial bud on a stalk grows into a condensing neural crest-derived mesenchyme; clefts in the epithelium result in 3-5 epithelial buds at E13.5, and branching morphogenesis occurs with continued proliferation, successive rounds of cleft formation, duct elongation, and duct lumen formation, so that by E14 the gland is highly branched (multi-lobed); functional differentiation, with the appearance of proacinar cells and secretory products begins after E15 and continues to birth; acinar differentiation continues postnatally with final differentiation of the granular convoluted tubules at puberty abnormal maxillary gland development abnormal submaxillary gland development MPheno.ontology MP:0013541 abnormal submandibular gland development MP:0013541 aberrant formation or incomplete differentiation of either of the paired compound tubuloalveolar (aka tubuloacinar) major salivary glands composed of both serous and mucous secretory cells and situated beneath the mandible; in mice, submandibular gland development initiates as a thickening of the oral epithelium; around E12 an initial (single) epithelial bud on a stalk grows into a condensing neural crest-derived mesenchyme; clefts in the epithelium result in 3-5 epithelial buds at E13.5, and branching morphogenesis occurs with continued proliferation, successive rounds of cleft formation, duct elongation, and duct lumen formation, so that by E14 the gland is highly branched (multi-lobed); functional differentiation, with the appearance of proacinar cells and secretory products begins after E15 and continues to birth; acinar differentiation continues postnatally with final differentiation of the granular convoluted tubules at puberty PMID:17336109 https://orcid.org/0000-0002-6490-7723 anomaly in the process in which the branching structure of the submandibular gland is generated and organized abnormal branching involved in submandibular gland morphogenesis abnormal submandibular gland ductal branching MPheno.ontology MP:0013542 abnormal submandibular gland branching morphogenesis MP:0013542 anomaly in the process in which the branching structure of the submandibular gland is generated and organized GO:1990632 any structural anomaly of any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen MPheno.ontology MP:0013543 abnormal holocrine gland morphology MP:0013543 any structural anomaly of any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen http://en.wikipedia.org/wiki/Holocrine http://medical-dictionary.thefreedictionary.com/holocrine+gland https://orcid.org/0000-0002-6490-7723 any structural anomaly of any exocrine gland whose secretions are excreted via exocytosis from secretory cells into an epithelial-walled duct or ducts and thence onto a bodily surface or into the lumen; the gland releases its product and no part of the gland is lost or damaged abnormal eccrine gland morphology MPheno.ontology MP:0013544 abnormal merocrine gland morphology MP:0013544 any structural anomaly of any exocrine gland whose secretions are excreted via exocytosis from secretory cells into an epithelial-walled duct or ducts and thence onto a bodily surface or into the lumen; the gland releases its product and no part of the gland is lost or damaged http://en.wikipedia.org/wiki/Merocrine https://orcid.org/0000-0002-6490-7723 cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones MPheno.ontology MP:0013545 cleft hard palate MP:0013545 cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones UBERON:0003216 a cleft in the soft tissue constituting the back of the roof of the mouth; the soft palate is the posterior portion of the palate extending from the posterior edge of the hard palate to the back of the mouth MPheno.ontology MP:0013546 cleft soft palate MP:0013546 a cleft in the soft tissue constituting the back of the roof of the mouth; the soft palate is the posterior portion of the palate extending from the posterior edge of the hard palate to the back of the mouth UBERON:0001733 a cleft of the soft palate which is characterized by a midline deficiency or lack of muscular tissue and incorrect positioning of the muscles, but cleft is covered over by the mucous membrane of the roof of the mouth; frequently associated with a bifid or cleft uvula MPheno.ontology MP:0013547 submucous cleft soft palate MP:0013547 a cleft of the soft palate which is characterized by a midline deficiency or lack of muscular tissue and incorrect positioning of the muscles, but cleft is covered over by the mucous membrane of the roof of the mouth; frequently associated with a bifid or cleft uvula https://live-acpa.pantheonsite.io/wp-content/uploads/2023/01/ACPA_booklet_Submucous.pdf a cleft of the hard palate characterized by a bony defect in the midline or center of the bony part of the palate, but cleft is covered over by the mucous membrane of the roof of the mouth MPheno.ontology MP:0013548 submucous cleft hard palate MP:0013548 a cleft of the hard palate characterized by a bony defect in the midline or center of the bony part of the palate, but cleft is covered over by the mucous membrane of the roof of the mouth https://live-acpa.pantheonsite.io/wp-content/uploads/2023/01/ACPA_booklet_Submucous.pdf any structural anomaly of the tissues normally uniting to form the primary palate; the primary palate will form the premaxillary portion of the maxilla (anterior one-third of the final palate) abnormal primitive palate morphology MPheno.ontology MP:0013549 abnormal primary palate morphology MP:0013549 any structural anomaly of the tissues normally uniting to form the primary palate; the primary palate will form the premaxillary portion of the maxilla (anterior one-third of the final palate) PMID:16680722 any structural anomaly of the portion of the palate formed by the growth of the two palatine shelves medially and their mutual fusion in the midline abnormal definitive palate morphology MPheno.ontology MP:0013550 abnormal secondary palate morphology MP:0013550 any structural anomaly of the portion of the palate formed by the growth of the two palatine shelves medially and their mutual fusion in the midline https://en.wikipedia.org/wiki/Secondary_palate reduction in the ability of a cerebellar granule cell precursor population to undergo rapid expansion by cell division reduced cerebellar granule precursor cell proliferation MPheno.ontology MP:0013551 decreased cerebellar granule cell precursor proliferation MP:0013551 reduction in the ability of a cerebellar granule cell precursor population to undergo rapid expansion by cell division https://orcid.org/0000-0003-3691-0324 increase in the ability of a cerebellar granule precursor cell population to undergo rapid expansion by cell division MPheno.ontology MP:0013552 increased cerebellar granule cell precursor proliferation MP:0013552 increase in the ability of a cerebellar granule precursor cell population to undergo rapid expansion by cell division https://orcid.org/0000-0003-3691-0324 increased ability of macrophages to undergo expansion by cell division; macrophages are large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells MPheno.ontology MP:0013553 increased macrophage proliferation MP:0013553 increased ability of macrophages to undergo expansion by cell division; macrophages are large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells https://orcid.org/0000-0003-3691-0324 any structural anomaly of any exocrine gland whose cells bud their secretions off through the plasma membrane producing membrane-bound vesicles in the lumen; the apical portion of the secretory cell of the gland pinches off and enters the lumen; it loses part of its cytoplasm in their secretions; apocrine secretion is functional during hormonal stress or puberty; an example of true apocrine glands are mammary glands, responsible for secreting breast milk MPheno.ontology MP:0013554 abnormal apocrine gland morphology MP:0013554 any structural anomaly of any exocrine gland whose cells bud their secretions off through the plasma membrane producing membrane-bound vesicles in the lumen; the apical portion of the secretory cell of the gland pinches off and enters the lumen; it loses part of its cytoplasm in their secretions; apocrine secretion is functional during hormonal stress or puberty; an example of true apocrine glands are mammary glands, responsible for secreting breast milk ISBN:0123813611 http://en.wikipedia.org/wiki/Apocrine https://orcid.org/0000-0002-6490-7723 any functional anomaly of any exocrine gland whose cells bud their secretions off through the plasma membrane producing membrane-bound vesicles in the lumen; the apical portion of the secretory cell of the gland pinches off and enters the lumen; it loses part of its cytoplasm in their secretions; apocrine secretion is functional during hormonal stress or puberty; an example of true apocrine glands are mammary glands, responsible for secreting breast milk MPheno.ontology MP:0013555 abnormal apocrine gland physiology MP:0013555 any functional anomaly of any exocrine gland whose cells bud their secretions off through the plasma membrane producing membrane-bound vesicles in the lumen; the apical portion of the secretory cell of the gland pinches off and enters the lumen; it loses part of its cytoplasm in their secretions; apocrine secretion is functional during hormonal stress or puberty; an example of true apocrine glands are mammary glands, responsible for secreting breast milk ISBN:0123813611 http://en.wikipedia.org/wiki/Apocrine https://orcid.org/0000-0002-6490-7723 any functional anomaly of any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen MPheno.ontology MP:0013556 abnormal holocrine gland physiology MP:0013556 any functional anomaly of any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen http://en.wikipedia.org/wiki/Holocrine http://medical-dictionary.thefreedictionary.com/holocrine+gland https://orcid.org/0000-0002-6490-7723 any functional anomaly of any exocrine gland whose secretions are excreted via exocytosis from secretory cells into an epithelial-walled duct or ducts and thence onto a bodily surface or into the lumen; the gland releases its product and no part of the gland is lost or damaged abnormal eccrine gland physiology MPheno.ontology MP:0013557 abnormal merocrine gland physiology MP:0013557 any functional anomaly of any exocrine gland whose secretions are excreted via exocytosis from secretory cells into an epithelial-walled duct or ducts and thence onto a bodily surface or into the lumen; the gland releases its product and no part of the gland is lost or damaged http://en.wikipedia.org/wiki/Merocrine https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the glands of the exocrine system that secrete their essential product by way of a duct to some environment external to itself, either inside the body or on a surface of the body; the duct portion may be branched (compound) or unbranched (simple); the glandular portion may be tubular or acinar, or may be a mix of the two (tubuloacinar or tubuloalveolar); if the glandular portion branches, then the gland is called a branched gland Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas abnormal duct gland morphology abnormal ducted gland morphology abnormal glandula exocrine morphology MPheno.ontology MP:0013558 abnormal exocrine gland morphology MP:0013558 any structural anomaly of any of the glands of the exocrine system that secrete their essential product by way of a duct to some environment external to itself, either inside the body or on a surface of the body; the duct portion may be branched (compound) or unbranched (simple); the glandular portion may be tubular or acinar, or may be a mix of the two (tubuloacinar or tubuloalveolar); if the glandular portion branches, then the gland is called a branched gland Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas http://en.wikipedia.org/wiki/Exocrine_gland https://orcid.org/0000-0002-6490-7723 any functional anomaly of any of the glands of the exocrine system that secrete their essential product by way of a duct to some environment external to itself, either inside the body or on a surface of the body; the duct portion may be branched (compound) or unbranched (simple); the glandular portion may be tubular or acinar, or may be a mix of the two (tubuloacinar or tubuloalveolar); if the glandular portion branches, then the gland is called a branched gland Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas abnormal duct gland physiology abnormal ducted gland physiology abnormal glandula exocrine physiology MPheno.ontology MP:0013559 abnormal exocrine gland physiology MP:0013559 any functional anomaly of any of the glands of the exocrine system that secrete their essential product by way of a duct to some environment external to itself, either inside the body or on a surface of the body; the duct portion may be branched (compound) or unbranched (simple); the glandular portion may be tubular or acinar, or may be a mix of the two (tubuloacinar or tubuloalveolar); if the glandular portion branches, then the gland is called a branched gland Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas http://en.wikipedia.org/wiki/Exocrine_gland https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct abnormal ductless gland morphology abnormal glandula endocrina morphology MPheno.ontology MP:0013560 abnormal endocrine gland morphology MP:0013560 any structural anomaly of any of the glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct UBERON:0002368 any functional anomaly of any of the glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct abnormal ductless gland physiology abnormal glandula endocrina physiology MPheno.ontology MP:0013561 abnormal endocrine gland physiology MP:0013561 any functional anomaly of any of the glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct UBERON:0002368 https://orcid.org/0000-0002-6490-7723 any structural abnormality of any of the secretory or sensory organs located in the brain region around or in relation to the ventricular system that are characterized by extensive vasculature and a lack of a normal blood brain barrier (BBB) and allow for the linkage between the central nervous system and peripheral blood flow; CVOs contain neural tissue and are an integral part of neuroendocrine function; all of the CVOs, besides the subcommissural organ, contain extensive vasculature and fenestrated capillaries which leads to a leaky BBB at the site of the organs; the lack of a BBB allows CVOs to act as an alternative route for peptides and hormones in the neural tissue to the peripheral blood stream, while still protecting it from toxic substances abnormal CVO morphology abnormal circumventricular organ of neuraxis morphology MPheno.ontology MP:0013562 abnormal circumventricular organ morphology MP:0013562 any structural abnormality of any of the secretory or sensory organs located in the brain region around or in relation to the ventricular system that are characterized by extensive vasculature and a lack of a normal blood brain barrier (BBB) and allow for the linkage between the central nervous system and peripheral blood flow; CVOs contain neural tissue and are an integral part of neuroendocrine function; all of the CVOs, besides the subcommissural organ, contain extensive vasculature and fenestrated capillaries which leads to a leaky BBB at the site of the organs; the lack of a BBB allows CVOs to act as an alternative route for peptides and hormones in the neural tissue to the peripheral blood stream, while still protecting it from toxic substances UBERON:0005408 http://en.wikipedia.org/wiki/Circumventricular_organs any structural abnormality of any of the circumventricular organs that are responsible for secreting hormones and glycoproteins into the peripheral vascular system using feedback from both the brain environment and external stimuli abnormal secretory CVO morphology MPheno.ontology MP:0013563 abnormal secretory circumventricular organ morphology MP:0013563 any structural abnormality of any of the circumventricular organs that are responsible for secreting hormones and glycoproteins into the peripheral vascular system using feedback from both the brain environment and external stimuli http://en.wikipedia.org/wiki/Circumventricular_organs any structural anomaly of any of the circumventricular organs that have the ability to sense plasma molecules and then pass that information into other regions of the brain, thereby providing direct information to the autonomic nervous system from systemic circulation abnormal sensory CVO morphology MPheno.ontology MP:0013564 abnormal sensory circumventricular organ morphology MP:0013564 any structural anomaly of any of the circumventricular organs that have the ability to sense plasma molecules and then pass that information into other regions of the brain, thereby providing direct information to the autonomic nervous system from systemic circulation http://en.wikipedia.org/wiki/Circumventricular_organs any structural anomaly of the thick capsule of dense irregular connective tissue that surrounds each adrenal gland and contains scattered elastic fibers; the capsule contains a rich plexus of blood vessels (mainly small arteries) and numerous nerve fibers; some blood vessels and nerves enter the substance of the gland in the trabeculae that extend inward from the capsule and then leave the trabeculae to enter the cortex abnormal suprarenal capsule morphology MPheno.ontology MP:0013565 abnormal adrenal gland capsule morphology MP:0013565 any structural anomaly of the thick capsule of dense irregular connective tissue that surrounds each adrenal gland and contains scattered elastic fibers; the capsule contains a rich plexus of blood vessels (mainly small arteries) and numerous nerve fibers; some blood vessels and nerves enter the substance of the gland in the trabeculae that extend inward from the capsule and then leave the trabeculae to enter the cortex ISBN:1581124686 https://orcid.org/0000-0002-6490-7723 stretched or widened aperture of the luminal space of one or more of the branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin Wassmann gland dilation dilated Wassmann gland dilated Wassmann glands dilated fundic gland dilated fundic glands dilated fundus gland dilated fundus glands dilated gastric follicle dilated gastric follicles dilated gastric glands dilated oxyntic gland dilated oxyntic glands fundic gland dilation fundus gland dilation gastric follicle dilation oxyntic gland dilation MPheno.ontology MP:0013566 dilated gastric gland MP:0013566 stretched or widened aperture of the luminal space of one or more of the branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of any of the gastric glands, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal change Wassmann gland atrophy fundic gland atrophy fundus gland atrophy gastric follicle atrophy oxyntic gland atrophy MPheno.ontology MP:0013567 gastric gland atrophy MP:0013567 acquired diminution of the size of any of the gastric glands, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal change https://orcid.org/0000-0002-6490-7723 a retrogressive impairment of function or destruction of any of the branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin Wassmann gland degeneration fundic gland degeneration fundus gland degeneration gastric follicle degeneration oxyntic gland degeneration MPheno.ontology MP:0013568 gastric gland degeneration MP:0013568 a retrogressive impairment of function or destruction of any of the branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the gastric gland, typically resulting in increased size Wassmann gland hyperplasia fundic gland hyperplasia fundus gland hyperplasia gastric follicle hyperplasia oxyntic gland hyperplasia MPheno.ontology MP:0013569 gastric gland hyperplasia MP:0013569 increase in the number of normal cells in normal arrangement in the gastric gland, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 any functional anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli MPheno.ontology MP:0013570 abnormal neuroendocrine gland physiology MP:0013570 any functional anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli ISBN:0-683-40008-8 any structural anomaly of the dense and irregular connective tissue capsule surrounding each parathyroid gland MPheno.ontology MP:0013571 abnormal parathyroid gland capsule morphology MP:0013571 any structural anomaly of the dense and irregular connective tissue capsule surrounding each parathyroid gland http://www.pathwaymedicine.org/parathyroid-gland-histology https://orcid.org/0000-0002-6490-7723 any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) abnormal chief cell morphology abnormal PTH secreting cell morphology abnormal chief cell of parathyroid gland morphology abnormal parathyroid chief cell morphology abnormal parathyroid gland principal cell morphology abnormal parathyroid hormone secreting cell morphology abnormal parathyroid principal cell morphology abnormal principal cell of parathyroid gland morphology MPheno.ontology MP:0013572 abnormal parathyroid gland chief cell morphology MP:0013572 any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) CL:0000446 https://orcid.org/0000-0002-6490-7723 aberrant formation or incomplete differentiation of either of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland, which secrete parathyroid hormone (PTH), a hormone that regulates calcium and phosphorous metabolism; in mouse, the parathyroids develop with the thymus from two common parathyroid/thymus primordia originating from the third pharyngeal pouch endoderm; the third pharyngeal pouches are formed at E9.5-E10 and are patterned into dorsal/anterior parathyroid and ventral/posterior thymus domains; the third pouch endoderm proliferates to form bilateral parathyroid/thymus common primordia at E11-E11.5; each primordium separates into one parathyroid gland and one thymus lobe at E12.5-E13.5, which then migrate to their eventual adult locations by about E14.5; in the adult mouse, the parathyroids are located near or embedded within the thyroid gland, and the thymus is situated in the anterior chest cavity MPheno.ontology MP:0013573 abnormal parathyroid gland development MP:0013573 aberrant formation or incomplete differentiation of either of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland, which secrete parathyroid hormone (PTH), a hormone that regulates calcium and phosphorous metabolism; in mouse, the parathyroids develop with the thymus from two common parathyroid/thymus primordia originating from the third pharyngeal pouch endoderm; the third pharyngeal pouches are formed at E9.5-E10 and are patterned into dorsal/anterior parathyroid and ventral/posterior thymus domains; the third pouch endoderm proliferates to form bilateral parathyroid/thymus common primordia at E11-E11.5; each primordium separates into one parathyroid gland and one thymus lobe at E12.5-E13.5, which then migrate to their eventual adult locations by about E14.5; in the adult mouse, the parathyroids are located near or embedded within the thyroid gland, and the thymus is situated in the anterior chest cavity PMID:17382312 https://orcid.org/0000-0002-6490-7723 a parathyroid gland located outside of its normal position; in the normal adult mouse, the parathyroids are usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; because of their common pharyngeal pouch origin, ectopic thyroid and parathyroid tissue can occasionally be found in the thymus MPheno.ontology MP:0013574 ectopic parathyroid gland MP:0013574 a parathyroid gland located outside of its normal position; in the normal adult mouse, the parathyroids are usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; because of their common pharyngeal pouch origin, ectopic thyroid and parathyroid tissue can occasionally be found in the thymus https://orcid.org/0000-0002-6490-7723 any structural anomaly of the distinct low fold of tissue that separates the non-glandular area of the stomach (forestomach) from the glandular stomach; the limiting ridge extends circumferentially from the large curvature of the stomach to the small curvature, just below the esophagus; at the esophagus, the course of the limiting ridge bends into a U-shape and almost surrounds the esophageal opening abnormal forestomach - glandular stomach squamocolumnar junction morphology abnormal limiting ridge of stomach morphology abnormal margo plicatus morphology abnormal squamo-columnar junction between forestomach and glandular stomach morphology abnormal squamocolumnar junction with the glandular stomach morphology MPheno.ontology MP:0013575 abnormal forestomach-glandular stomach junction morphology MP:0013575 any structural anomaly of the distinct low fold of tissue that separates the non-glandular area of the stomach (forestomach) from the glandular stomach; the limiting ridge extends circumferentially from the large curvature of the stomach to the small curvature, just below the esophagus; at the esophagus, the course of the limiting ridge bends into a U-shape and almost surrounds the esophageal opening http://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=2&ved=0CCUQFjAB&url=http%3A%2F%2Fjournals.usamvcluj.ro%2Findex.php%2Fveterinary%2Farticle%2Fdownload%2F5889%2F5384&ei=nQ61VJvFEMuQyASZpYGgCw&usg=AFQjCNHtPvbkRJR7v3Jh2Ht2z-s9qVBLGA&bvm=bv.83339334,d.aWw&cad=rja https://orcid.org/0000-0002-6490-7723 reduced size of the distinct rodent non-glandular region of the stomach which is demarcated from the glandular stomach by the limiting ridge (margo plicatus) decreased non-glandular stomach size reduced forstomach size reduced non-glandular stomach size small anterior stomach small antrum cardiacum small non-glandular stomach small proximal stomach small stomach non-glandular region MPheno.ontology MP:0013576 small forestomach MP:0013576 reduced size of the distinct rodent non-glandular region of the stomach which is demarcated from the glandular stomach by the limiting ridge (margo plicatus) https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the forestomach, typically resulting in decreased size anterior stomach hypoplasia antrum cardiacum hypoplasia hypoplastic forestomach non-glandular stomach hypoplasia proximal stomach hypoplasia stomach non-glandular region hypoplasia MPheno.ontology MP:0013577 forestomach hypoplasia MP:0013577 decrease in the number of normal cells in normal arrangement in the forestomach, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the distinct glandular stomach area which in rodents is demarcated from the non-glandular forestomach by the limiting ridge (margo plicatus); the glandular stomach is connected to the small intestine (duodenum); the wall of the glandular stomach consists of, from inside to outside, simple columnar epithelium containing gastric glands, the lamina propria (epithelium and lamina propria form the glandular mucosa), the muscularis mucosae, the submucosa, the muscularis interna and externa (inner circular and outer longitudinal layers of smooth muscle), and the serosa; the gastric glands lined by simple columnar epithelium form deep gastric pits (foveolae) that are perpendicular to the wall of the stomach; three types of gastric glands exist; the cardiac glands, located near the limiting ridge, contain mucous cells; the pyloric glands also contain mucous cells; the fundic glands, which make up the majority of the gastric glands, contain a variety of cells: mucous neck cells, small, basophilic chief cells, and large, round parietal cells with a granular eosinophilic cytoplasm abnormal glandular stomach morphology MPheno.ontology MP:0013578 abnormal stomach glandular region morphology MP:0013578 any structural anomaly of the distinct glandular stomach area which in rodents is demarcated from the non-glandular forestomach by the limiting ridge (margo plicatus); the glandular stomach is connected to the small intestine (duodenum); the wall of the glandular stomach consists of, from inside to outside, simple columnar epithelium containing gastric glands, the lamina propria (epithelium and lamina propria form the glandular mucosa), the muscularis mucosae, the submucosa, the muscularis interna and externa (inner circular and outer longitudinal layers of smooth muscle), and the serosa; the gastric glands lined by simple columnar epithelium form deep gastric pits (foveolae) that are perpendicular to the wall of the stomach; three types of gastric glands exist; the cardiac glands, located near the limiting ridge, contain mucous cells; the pyloric glands also contain mucous cells; the fundic glands, which make up the majority of the gastric glands, contain a variety of cells: mucous neck cells, small, basophilic chief cells, and large, round parietal cells with a granular eosinophilic cytoplasm http://ctrgenpath.net/static/atlas/mousehistology/Windows/digestive/glandular.html https://orcid.org/0000-0002-6490-7723 increase in the number of any cells of the adrenal gland undergoing programmed cell death increased suprarenal gland apoptosis MPheno.ontology MP:0013579 increased adrenal gland apoptosis MP:0013579 increase in the number of any cells of the adrenal gland undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the seromucous glands found in the respiratory region of the nasal mucous membrane, including anterior serous glands, seromucous glands, and Bowman glands abnormal gland of nasal mucosa morphology abnormal glandula nasalis morphology abnormal glandulae nasales morphology MPheno.ontology MP:0013580 abnormal nasal gland morphology MP:0013580 any structural anomaly of any of the seromucous glands found in the respiratory region of the nasal mucous membrane, including anterior serous glands, seromucous glands, and Bowman glands UBERON:0012278 http://en.wikipedia.org/wiki/Nasal_glands https://orcid.org/0000-0002-6490-7723 a retrogressive impairment of function or destruction of any of the seromucous glands found in the respiratory region of the nasal mucous membrane MPheno.ontology MP:0013581 nasal gland degeneration MP:0013581 a retrogressive impairment of function or destruction of any of the seromucous glands found in the respiratory region of the nasal mucous membrane http://en.wikipedia.org/wiki/Nasal_glands https://orcid.org/0000-0002-6490-7723 any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those described for the major serous salivary glands; secretory contents of the LNG drain into the nasal vestibule; the LNG is a major site for the synthesis and secretion of odorant-binding proteins that serve as odorant carriers in nasal mucus; it also, synthesizes large amounts of immunoglobulin A, which is important for immune defense of the upper respiratory tract, and testosterone and salivary androgen-binding proteins, which are likely important in olfaction and reproductive behavior abnormal LNG morphology abnormal Steno gland morphology abnormal Steno's gland morphology abnormal glandula nasalis lateralis morphology MPheno.ontology MP:0013582 abnormal lateral nasal gland morphology MP:0013582 any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those described for the major serous salivary glands; secretory contents of the LNG drain into the nasal vestibule; the LNG is a major site for the synthesis and secretion of odorant-binding proteins that serve as odorant carriers in nasal mucus; it also, synthesizes large amounts of immunoglobulin A, which is important for immune defense of the upper respiratory tract, and testosterone and salivary androgen-binding proteins, which are likely important in olfaction and reproductive behavior ISBN:0080454321 ISBN:0123813611 https://orcid.org/0000-0002-6490-7723 a retrogressive impairment of function or destruction of any of the saliva-secreting glands of the oral cavity MPheno.ontology MP:0013583 salivary gland degeneration MP:0013583 a retrogressive impairment of function or destruction of any of the saliva-secreting glands of the oral cavity https://orcid.org/0000-0002-6490-7723 a retrogressive impairment of function or destruction of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MPheno.ontology MP:0013584 pancreas degeneration MP:0013584 a retrogressive impairment of function or destruction of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream https://orcid.org/0000-0002-6490-7723 acquired diminution of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes atrophic thymic cortex atrophic thymus cortex thymic cortex atrophy MPheno.ontology MP:0013585 thymus cortex atrophy MP:0013585 acquired diminution of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes, associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 acquired diminution of the inner area of thymus lobules associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes atrophic thymic medulla atrophic thymus medulla thymic medulla atrophy MPheno.ontology MP:0013586 thymus medulla atrophy MP:0013586 acquired diminution of the inner area of thymus lobules associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 lacking the inner area of thymus lobules absent thymic medulla MPheno.ontology MP:0013587 absent thymus medulla MP:0013587 lacking the inner area of thymus lobules https://orcid.org/0000-0002-6490-7723 decreased size of the inner area of thymus lobules decreased thymic medulla area decreased thymus medulla area reduced thymic medulla area reduced thymus medulla area MPheno.ontology MP:0013588 small thymus medulla MP:0013588 decreased size of the inner area of thymus lobules https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the thymus medulla, typically resulting in decreased size decreased cellularity of thymic medulla decreased thymic medulla cellularity hypoplasia of thymic medulla hypoplastic thymus medulla thymic medulla hypoplasia MPheno.ontology MP:0013589 thymus medulla hypoplasia MP:0013589 decrease in the number of normal cells in normal arrangement in the thymus medulla, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increased size of the inner area of thymus lobules increased thymic medulla area increased thymic medulla size increased thymus medulla area increased thymus medulla size MPheno.ontology MP:0013590 enlarged thymus medulla MP:0013590 increased size of the inner area of thymus lobules https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the thymus medulla, typically resulting in increased size hyperplasia of thymic medulla hyperplastic thymus medulla increased cellularity of thymic medulla increased thymic medulla cellularity thymic medulla hyperplasia MPheno.ontology MP:0013591 thymus medulla hyperplasia MP:0013591 increase in the number of normal cells in normal arrangement in the thymus medulla, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 decreased size of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes decreased thymic cortex area decreased thymic cortex size decreased thymus cortex area decreased thymus cortex size reduced thymic cortex area reduced thymic cortex size reduced thymus cortex area reduced thymus cortex size MPheno.ontology MP:0013592 small thymus cortex MP:0013592 decreased size of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 increased size of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes increased thymic cortex area increased thymic cortex size increased thymus cortex area increased thymus cortex size MPheno.ontology MP:0013593 enlarged thymus cortex MP:0013593 increased size of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the secretory units (acini) of either parotid gland which in human and rodent consist almost exclusively of serous secretory cells with their lumina continuous with intercalated ducts; in mouse, parotid gland acini are very small and consist of 3-4 tall pyramidal cells with strongly basophilic cytoplasm and basally located, large spherical nuclei; the serous secretory cells contain many secretory granules having an electron-lucent profile which are situated in the supranuclear cytoplasm; the serous secretory cells have a well-developed rough endoplasmic reticulum in the infranuclear region and are surrounded by myoepithelial cells MPheno.ontology MP:0013594 abnormal parotid gland acinus morphology MP:0013594 any structural anomaly of any of the secretory units (acini) of either parotid gland which in human and rodent consist almost exclusively of serous secretory cells with their lumina continuous with intercalated ducts; in mouse, parotid gland acini are very small and consist of 3-4 tall pyramidal cells with strongly basophilic cytoplasm and basally located, large spherical nuclei; the serous secretory cells contain many secretory granules having an electron-lucent profile which are situated in the supranuclear cytoplasm; the serous secretory cells have a well-developed rough endoplasmic reticulum in the infranuclear region and are surrounded by myoepithelial cells PMID:23209333 http://ctrgenpath.net/static/atlas/mousehistology/Windows/digestive/parotide.html https://orcid.org/0000-0002-6490-7723 lacking the tubular, crescent-sensory organ with a luminal epithelium that contains chemosensitive receptor cells with microvilli that are thought to detect pheromones and transmit signals to the remainder of the accessory olfactory system absent Jacobson organ absent Jacobson's organ absent VNO absent organon vomeronasale absent organum vomeronasale MPheno.ontology MP:0013595 Note that this structure is normally absent in adult higher primates as well as a number of other species. absent vomeronasal organ MP:0013595 lacking the tubular, crescent-sensory organ with a luminal epithelium that contains chemosensitive receptor cells with microvilli that are thought to detect pheromones and transmit signals to the remainder of the accessory olfactory system https://orcid.org/0000-0003-3691-0324 any functional anomaly of the tubular, crescent-sensory organ with a luminal epithelium that contains chemosensitive receptor cells with microvilli that are thought to detect pheromones and transmit signals to the remainder of the accessory olfactory system; the organ lies at the base the nasal cavity and is split into two, separated by the nasal septum abnormal Jacobson organ physiology abnormal Jacobson's organ physiology abnormal VNO physiology abnormal organon vomeronasale physiology abnormal organum vomeronasale physiology MPheno.ontology MP:0013596 abnormal vomeronasal organ physiology MP:0013596 any functional anomaly of the tubular, crescent-sensory organ with a luminal epithelium that contains chemosensitive receptor cells with microvilli that are thought to detect pheromones and transmit signals to the remainder of the accessory olfactory system; the organ lies at the base the nasal cavity and is split into two, separated by the nasal septum http://ctrgenpath.net/static/atlas/mousehistology/Windows/senses/jacobsonorgan.html http://en.wikipedia.org/wiki/Vomeronasal_organ#Structure https://orcid.org/0000-0003-3691-0324 reduced size of the tubular, crescent-sensory organ with a luminal epithelium that contains chemosensitive receptor cells with microvilli that are thought to detect pheromones and transmit signals to the remainder of the accessory olfactory system decreased Jacobson organ size decreased Jacobson's organ size decreased VNO size decreased organon vomeronasale size decreased organum vomeronasale size decreased vomeronasal organ size reduced Jacobson organ size reduced Jacobson's organ size reduced VNO size reduced organon vomeronasale size reduced organum vomeronasale size reduced vomeronasal organ size small Jacobson organ small Jacobson's organ small VNO small organon vomeronasale small organum vomeronasale MPheno.ontology MP:0013597 small vomeronasal organ MP:0013597 reduced size of the tubular, crescent-sensory organ with a luminal epithelium that contains chemosensitive receptor cells with microvilli that are thought to detect pheromones and transmit signals to the remainder of the accessory olfactory system http://ctrgenpath.net/static/atlas/mousehistology/Windows/senses/jacobsonorgan.html http://en.wikipedia.org/wiki/Vomeronasal_organ#Structure https://orcid.org/0000-0003-3691-0324 increased size of the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone (LH) increased Leydig cell size enlarged Leydig cells hypertrophic Leydig cells MPheno.ontology MP:0013598 Leydig cell hypertrophy MP:0013598 increased size of the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone (LH) https://orcid.org/0000-0002-6490-7723 acquired diminution of the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone (LH), associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes atrophic Leydig cells MPheno.ontology MP:0013599 Leydig cell atrophy MP:0013599 acquired diminution of the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone (LH), associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 a retrogressive impairment of function or destruction of either or both of the male reproductive glands testicular degeneration MPheno.ontology MP:0013600 testis degeneration MP:0013600 a retrogressive impairment of function or destruction of either or both of the male reproductive glands https://orcid.org/0000-0002-6490-7723 increase in the number of cells in testicular tissue undergoing programmed cell death increased testicular apoptosis MPheno.ontology MP:0013601 increased testis apoptosis MP:0013601 increase in the number of cells in testicular tissue undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 atypical formation of or inability to produce the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone; in most mammals, normal Leydig cell (LC) development comprises two sequential but overlapping cell lineages known as the fetal and adult type LC populations, which display distinct functional characteristics reflected by different morphology, hormonal regulation, and steroidogenic output abnormal LC differentiation MPheno.ontology MP:0013602 abnormal Leydig cell differentiation MP:0013602 atypical formation of or inability to produce the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone; in most mammals, normal Leydig cell (LC) development comprises two sequential but overlapping cell lineages known as the fetal and adult type LC populations, which display distinct functional characteristics reflected by different morphology, hormonal regulation, and steroidogenic output http://press.endocrine.org/doi/full/10.1210/en.2012-2273 https://orcid.org/0000-0002-6490-7723 atypical formation of or inability to produce the first or fetal population of Leydig cells (FLCs); in mice, FLCs arise in the testicular interstitium between E12.5 and E13.0, approximately 1 day after the appearance of Sertoli cells; Sertoli cells trigger differentiation of steroidogenic factor 1-positive (SF1-positive) progenitor cells into FLCs via paracrine regulation; the intercellular Notch signaling pathway is also involved in FLC establishment and maintenance; the FLC population increases dramatically during embryonic development despite the fact that differentiating FLCs are mitotically inactive, suggesting that expansion of FLC populations results from differentiation of progenitor cells, rather than cell division of existing FLCs; the SF1-positive cells in gonadal primordia are the primary source of FLCs but other sources such as neighboring mesonephros, migrating neural crest cells, and cells from the coelomic epithelium or interstitium are potential contributors also; at the end of fetal life and during the first 2 postnatal weeks in rodents, FLCs are gradually replaced by adult Leydig cells (ALCs) abnormal FLC differentiation abnormal foetal Leydig cell differentiation MPheno.ontology MP:0013603 abnormal fetal Leydig cell differentiation MP:0013603 atypical formation of or inability to produce the first or fetal population of Leydig cells (FLCs); in mice, FLCs arise in the testicular interstitium between E12.5 and E13.0, approximately 1 day after the appearance of Sertoli cells; Sertoli cells trigger differentiation of steroidogenic factor 1-positive (SF1-positive) progenitor cells into FLCs via paracrine regulation; the intercellular Notch signaling pathway is also involved in FLC establishment and maintenance; the FLC population increases dramatically during embryonic development despite the fact that differentiating FLCs are mitotically inactive, suggesting that expansion of FLC populations results from differentiation of progenitor cells, rather than cell division of existing FLCs; the SF1-positive cells in gonadal primordia are the primary source of FLCs but other sources such as neighboring mesonephros, migrating neural crest cells, and cells from the coelomic epithelium or interstitium are potential contributors also; at the end of fetal life and during the first 2 postnatal weeks in rodents, FLCs are gradually replaced by adult Leydig cells (ALCs) PMID:23568777 atypical formation of or inability to produce the second or adult population of Leydig cells (ALCs) between birth and puberty; ALCs arise in the interstitium of adult testes from unknown progenitor cells and become the major source of androgens that control differentiation of the male reproductive tract and spermatogenesis; ALCs are not derived from fetal Leydig cells (FLCs), and the origin and the molecular events that control ALC differentiation are poorly understood MPheno.ontology MP:0013604 abnormal adult Leydig cell differentiation MP:0013604 atypical formation of or inability to produce the second or adult population of Leydig cells (ALCs) between birth and puberty; ALCs arise in the interstitium of adult testes from unknown progenitor cells and become the major source of androgens that control differentiation of the male reproductive tract and spermatogenesis; ALCs are not derived from fetal Leydig cells (FLCs), and the origin and the molecular events that control ALC differentiation are poorly understood PMID:23568777 any structural anomaly of the peritoneal recess between the medial aspect of the ovary and the mesosalpinx abnormal bursa ovarica morphology MPheno.ontology MP:0013605 abnormal ovarian bursa morphology MP:0013605 any structural anomaly of the peritoneal recess between the medial aspect of the ovary and the mesosalpinx UBERON:0012333 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the shallow depression in the parietal peritoneum of the pelvis that lodges the ovary abnormal Claudius fossa morphology abnormal fossa ovarica morphology MPheno.ontology MP:0013606 abnormal ovarian fossa morphology MP:0013606 any structural anomaly of the shallow depression in the parietal peritoneum of the pelvis that lodges the ovary ISBN:068340007X https://orcid.org/0000-0003-3691-0324 invasion of fibrous connective tissue into the ovary, often resulting from inflammation or injury fibrotic ovaries fibrotic ovary ovarian fibrosis MPheno.ontology MP:0013607 ovary fibrosis MP:0013607 invasion of fibrous connective tissue into the ovary, often resulting from inflammation or injury https://orcid.org/0000-0002-6490-7723 any structural anomaly of the layer of the ovarian stroma lying immediately beneath the tunica albuginea, composed of connective tissue cells and fibers, among which are scattered primary and secondary (antral) follicles in various stages of development; the cortex varies in thickness according to the age of the individual, becoming thinner with advancing years; included in the follicles are the cumulus oophorus, membrana granulosa (and the granulosa cells inside it), corona radiata, zona pellucida, and primary oocyte; the zona pellucida, theca of follicle, antrum and liquor folliculi are also contained in the follicle; also in the cortex is the corpus luteum derived from the follicles abnormal cortex of ovary morphology abnormal cortex ovarii (zona parenchymatosa) morphology MPheno.ontology MP:0013608 abnormal ovarian cortex morphology MP:0013608 any structural anomaly of the layer of the ovarian stroma lying immediately beneath the tunica albuginea, composed of connective tissue cells and fibers, among which are scattered primary and secondary (antral) follicles in various stages of development; the cortex varies in thickness according to the age of the individual, becoming thinner with advancing years; included in the follicles are the cumulus oophorus, membrana granulosa (and the granulosa cells inside it), corona radiata, zona pellucida, and primary oocyte; the zona pellucida, theca of follicle, antrum and liquor folliculi are also contained in the follicle; also in the cortex is the corpus luteum derived from the follicles http://en.wikipedia.org/wiki/Ovary http://medical-dictionary.thefreedictionary.com/cortex+of+ovary any structural anomaly of the highly vascular stroma found in the center of the ovary that forms from embryonic mesenchyme and contains blood vessels, lymphatic vessels, and nerves; this stroma forms the tissue of the hilum by which the ovarian ligament is attached, and through which the blood vessels enter abnormal medulla of ovary morphology abnormal medulla ovarii (zona vasculosa) morphology abnormal zona vasculosa of Waldeyer morphology MPheno.ontology MP:0013609 abnormal ovarian medulla morphology MP:0013609 any structural anomaly of the highly vascular stroma found in the center of the ovary that forms from embryonic mesenchyme and contains blood vessels, lymphatic vessels, and nerves; this stroma forms the tissue of the hilum by which the ovarian ligament is attached, and through which the blood vessels enter http://en.wikipedia.org/wiki/Ovary https://orcid.org/0000-0002-6490-7723 any structural anomaly of the canal structure formed from the primary sex cords in females; a transient network of cells in the developing ovary that is homologous to the rete testis in males MPheno.ontology MP:0013610 abnormal rete ovarii morphology MP:0013610 any structural anomaly of the canal structure formed from the primary sex cords in females; a transient network of cells in the developing ovary that is homologous to the rete testis in males https://orcid.org/0000-0002-6490-7723 any structural anomaly of the epithelium lining the intrahepatic and extrahepatic bile ducts abnormal bile duct epithelial tissue morphology abnormal biliary duct epithelial tissue morphology abnormal biliary duct epithelium morphology abnormal biliary epithelium morphology abnormal epithelial tissue of bile duct morphology abnormal epithelial tissue of biliary duct morphology abnormal epithelium of bile duct morphology abnormal epithelium of biliary duct morphology MPheno.ontology MP:0013611 abnormal bile duct epithelium morphology MP:0013611 any structural anomaly of the epithelium lining the intrahepatic and extrahepatic bile ducts https://orcid.org/0000-0002-6490-7723 increased size of the bony segments of the coccyx or tail increased caudal vertebrae size large caudal vertebrae MPheno.ontology MP:0013612 There are usually 27-30 caudal vertebrae present in rodents and only 3-5 fused caudal vertebrae in human. enlarged caudal vertebrae MP:0013612 increased size of the bony segments of the coccyx or tail https://orcid.org/0000-0003-3691-0324 anomaly of the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usually in mgHA/cm^3), with results generated from Quantitative computed tomography (QCT) and other tests abnormal BV/TV abnormal bone volume fraction abnormal vBMD MPheno.ontology MP:0013613 abnormal volumetric bone mineral density MP:0013613 anomaly of the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usually in mgHA/cm^3), with results generated from Quantitative computed tomography (QCT) and other tests PMID:12730800 PMID:17481978 abnormal BV/TV PMID:36062328 abnormal bone volume fraction PMID:36062328 anomaly of the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/cm^2), with results generated from Dual-energy X-ray absorptiometry (DXA or DEXA) tests abnormal aBMD abnormal areal bone density MPheno.ontology MP:0013614 abnormal areal bone mineral density MP:0013614 anomaly of the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/cm^2), with results generated from Dual-energy X-ray absorptiometry (DXA or DEXA) tests PMID:12730800 PMID:17481978 increase in the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usually in mgHA/cm^3), with results generated from Quantitative computed tomography (QCT) and other tests elevated bone volume fraction increased BV/TV increased vBMD increased volumetric bone density MPheno.ontology MP:0013615 increased volumetric bone mineral density MP:0013615 increase in the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usually in mgHA/cm^3), with results generated from Quantitative computed tomography (QCT) and other tests PMID:12730800 PMID:17481978 reduction in the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usually in mgHA/cm^3), with results generated from Quantitative computed tomography (QCT) and other tests decreased vBMD decreased volumetric bone density reduced BV/TV reduced bone volume fraction MPheno.ontology MP:0013616 decreased volumetric bone mineral density MP:0013616 reduction in the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usually in mgHA/cm^3), with results generated from Quantitative computed tomography (QCT) and other tests PMID:12730800 PMID:17481978 increase in the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/cm^2), with results generated from Dual-energy X-ray absorptiometry (DXA or DEXA) tests increased aBMD increased areal bone density MPheno.ontology MP:0013617 increased areal bone mineral density MP:0013617 increase in the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/cm^2), with results generated from Dual-energy X-ray absorptiometry (DXA or DEXA) tests PMID:12730800 PMID:17481978 reduction of the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/cm^2), with results generated from Dual-energy X-ray absorptiometry (DXA or DEXA) tests decreased aBMD decreased areal bone density MPheno.ontology MP:0013618 decreased areal bone mineral density MP:0013618 reduction of the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/cm^2), with results generated from Dual-energy X-ray absorptiometry (DXA or DEXA) tests PMID:12730800 PMID:17481978 anomaly of the cross-sectional distance that extends from one lateral edge of a long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the bone abnormal long bone endosteal diameter abnormal long bone inner diameter abnormal long bone marrow cavity diameter abnormal long bone medullary cavity diameter MPheno.ontology MP:0013619 abnormal long bone internal diameter MP:0013619 anomaly of the cross-sectional distance that extends from one lateral edge of a long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the bone PMID:23197339 increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur increased endosteal diameter of femur increased femur bone marrow cavity diameter increased femur medullary cavity diameter increased inner diameter of femur MPheno.ontology MP:0013620 increased internal diameter of femur MP:0013620 increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur PMID:23197339 reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur decreased endosteal diameter of femur decreased femur bone marrow cavity diameter decreased femur medullary cavity diameter decreased inner diameter of femur reduced endosteal diameter of femur reduced inner diameter of femur MPheno.ontology MP:0013621 decreased internal diameter of femur MP:0013621 reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur PMID:23197339 reduced or increased width of the superficial layer of compact bone at the midpoint of the femur abnormal femur cortical bone morphology thickness abnormal femur dense bone thickness abnormal femur lamellar bone thickness MPheno.ontology MP:0013622 abnormal femur compact bone thickness MP:0013622 reduced or increased width of the superficial layer of compact bone at the midpoint of the femur https://orcid.org/0000-0003-3691-0324 increased width of the superficial layer of compact bone at the midpoint of the femur increased femur cortical bone morphology thickness increased femur dense bone thickness increased femur lamellar bone thickness MPheno.ontology MP:0013623 increased femur compact bone thickness MP:0013623 increased width of the superficial layer of compact bone at the midpoint of the femur https://orcid.org/0000-0003-3691-0324 reduced width of the superficial layer of compact bone at the midpoint of the femur decreased femur cortical bone morphology thickness decreased femur dense bone thickness decreased femur lamellar bone thickness reduced femur cortical bone morphology thickness reduced femur dense bone thickness reduced femur lamellar bone thickness MPheno.ontology MP:0013624 decreased femur compact bone thickness MP:0013624 reduced width of the superficial layer of compact bone at the midpoint of the femur https://orcid.org/0000-0003-3691-0324 increase in load (N) on the femur at which elastic deformation ends MPheno.ontology MP:0013625 increased femur yield load MP:0013625 increase in load (N) on the femur at which elastic deformation ends https://orcid.org/0000-0001-7698-1552 decrease in load (N) on the femur at which elastic deformation ends MPheno.ontology MP:0013626 decreased femur yield load MP:0013626 decrease in load (N) on the femur at which elastic deformation ends https://orcid.org/0000-0001-7698-1552 increase in load (N) on a vertebra at which elastic deformation ends MPheno.ontology MP:0013627 increased vertebra yield load MP:0013627 increase in load (N) on a vertebra at which elastic deformation ends https://orcid.org/0000-0001-7698-1552 decrease in load (N) on a vertebra at which elastic deformation ends MPheno.ontology MP:0013628 decreased vertebra yield load MP:0013628 decrease in load (N) on a vertebra at which elastic deformation ends https://orcid.org/0000-0001-7698-1552 any deviation in the amount of space between trabeculae in cancellous bone MPheno.ontology MP:0013629 abnormal bone trabecular spacing MP:0013629 any deviation in the amount of space between trabeculae in cancellous bone https://orcid.org/0000-0001-7698-1552 increase in the amount of space between trabeculae in cancellous bone MPheno.ontology MP:0013630 increased bone trabecular spacing MP:0013630 increase in the amount of space between trabeculae in cancellous bone https://orcid.org/0000-0001-7698-1552 decrease in the amount of space between trabeculae in cancellous bone MPheno.ontology MP:0013631 decreased bone trabecular spacing MP:0013631 decrease in the amount of space between trabeculae in cancellous bone https://orcid.org/0000-0001-7698-1552 increase in the maximal load (N) that can be sustained by the femur MPheno.ontology MP:0013632 increased femur maximal load MP:0013632 increase in the maximal load (N) that can be sustained by the femur https://orcid.org/0000-0001-7698-1552 decrease in the maximal load (N) that can be sustained by the femur MPheno.ontology MP:0013633 decreased femur maximal load MP:0013633 decrease in the maximal load (N) that can be sustained by the femur https://orcid.org/0000-0001-7698-1552 increase in the load at which material failure occurs after plastic deformation MPheno.ontology MP:0013634 increased femur fracture load MP:0013634 increase in the load at which material failure occurs after plastic deformation https://orcid.org/0000-0001-7698-1552 decrease in the load at which material failure occurs after plastic deformation MPheno.ontology MP:0013635 decreased femur fracture load MP:0013635 decrease in the load at which material failure occurs after plastic deformation https://orcid.org/0000-0001-7698-1552 deviation in material stiffness (N/mm) during elastic deformation MPheno.ontology MP:0013636 abnormal bone stiffness MP:0013636 deviation in material stiffness (N/mm) during elastic deformation https://orcid.org/0000-0001-7698-1552 increase in material stiffness (N/mm) during elastic deformation in the femur MPheno.ontology MP:0013637 increased femur stiffness MP:0013637 increase in material stiffness (N/mm) during elastic deformation in the femur https://orcid.org/0000-0001-7698-1552 decrease in material stiffness (N/mm) during elastic deformation in the femur MPheno.ontology MP:0013638 decreased femur stiffness MP:0013638 decrease in material stiffness (N/mm) during elastic deformation in the femur https://orcid.org/0000-0001-7698-1552 decrease in material stiffness (N/mm) during elastic deformation MPheno.ontology MP:0013639 decreased bone stiffness MP:0013639 decrease in material stiffness (N/mm) during elastic deformation https://orcid.org/0000-0001-7698-1552 increase in material stiffness (N/mm) during elastic deformation MPheno.ontology MP:0013640 increased bone stiffness MP:0013640 increase in material stiffness (N/mm) during elastic deformation https://orcid.org/0000-0001-7698-1552 increase in material stiffness (N/mm) during elastic deformation in a vertebra MPheno.ontology MP:0013641 increased vertebra stiffness MP:0013641 increase in material stiffness (N/mm) during elastic deformation in a vertebra https://orcid.org/0000-0001-7698-1552 decrease in material stiffness (N/mm) during elastic deformation in a vertebra MPheno.ontology MP:0013642 decreased vertebra stiffness MP:0013642 decrease in material stiffness (N/mm) during elastic deformation in a vertebra https://orcid.org/0000-0001-7698-1552 decrease in the maximal load (N) that can be sustained by a vertebra MPheno.ontology MP:0013643 decreased vertebra maximal load MP:0013643 decrease in the maximal load (N) that can be sustained by a vertebra https://orcid.org/0000-0001-7698-1552 increase in the maximal load (N) that can be sustained by a vertebra MPheno.ontology MP:0013644 increased vertebra maximal load MP:0013644 increase in the maximal load (N) that can be sustained by a vertebra https://orcid.org/0000-0001-7698-1552 increase in the fraction of total energy dissapated prior to ultimate material failure (low energy fracture) by the femur MPheno.ontology MP:0013645 increased energy dissipated prior to femur fracture MP:0013645 increase in the fraction of total energy dissapated prior to ultimate material failure (low energy fracture) by the femur https://orcid.org/0000-0001-7698-1552 decrease in the fraction of total energy dissapated prior to ultimate material failure (high energy fracture) by the femur MPheno.ontology MP:0013646 decreased energy dissipated prior to femur fracture MP:0013646 decrease in the fraction of total energy dissapated prior to ultimate material failure (high energy fracture) by the femur https://orcid.org/0000-0001-7698-1552 anomaly in the number of dendritic cells expressing high levels of CD11b which usually depend on Irf4 for their development MPheno.ontology MP:0013647 abnormal CD11b-high dendritic cell number MP:0013647 anomaly in the number of dendritic cells expressing high levels of CD11b which usually depend on Irf4 for their development PMID:23516985 https://orcid.org/0000-0002-6181-4695 increase in the number of dendritic cells expressing high levels of CD11b which usually depend on Irf4 for their development MPheno.ontology MP:0013648 increased CD11b-high dendritic cell number MP:0013648 increase in the number of dendritic cells expressing high levels of CD11b which usually depend on Irf4 for their development PMID:23516985 https://orcid.org/0000-0002-6181-4695 reduction in the number of dendritic cells expressing high levels of CD11b which usually depend on Irf4 for their development MPheno.ontology MP:0013649 decreased CD11b-high dendritic cell number MP:0013649 reduction in the number of dendritic cells expressing high levels of CD11b which usually depend on Irf4 for their development PMID:23516985 https://orcid.org/0000-0002-6181-4695 anomaly in the number of dendritic cells expressing low levels of CD11b which usually express CD8, depend on Irf8 and Batf3 for their development and are responsible for cross-presentation MPheno.ontology MP:0013650 abnormal CD11b-low dendritic cell number MP:0013650 anomaly in the number of dendritic cells expressing low levels of CD11b which usually express CD8, depend on Irf8 and Batf3 for their development and are responsible for cross-presentation PMID:23516985 https://orcid.org/0000-0002-6181-4695 increase in the number of dendritic cells expressing low levels of CD11b which usually express CD8, depend on Irf8 and Batf3 for their development and are responsible for cross-presentation MPheno.ontology MP:0013651 increased CD11b-low dendritic cell number MP:0013651 increase in the number of dendritic cells expressing low levels of CD11b which usually express CD8, depend on Irf8 and Batf3 for their development and are responsible for cross-presentation PMID:23516985 https://orcid.org/0000-0002-6181-4695 reduction in the number of dendritic cells expressing low levels of CD11b which usually express CD8, depend on Irf8 and Batf3 for their development and are responsible for cross-presentation MPheno.ontology MP:0013652 decreased CD11b-low dendritic cell number MP:0013652 reduction in the number of dendritic cells expressing low levels of CD11b which usually express CD8, depend on Irf8 and Batf3 for their development and are responsible for cross-presentation PMID:23516985 https://orcid.org/0000-0002-6181-4695 anomaly in the number of CD11b-low dendritic cells expressing CD103, a marker of tissue residency MPheno.ontology MP:0013653 abnormal CD103-positive CD11b-low dendritic cell number MP:0013653 anomaly in the number of CD11b-low dendritic cells expressing CD103, a marker of tissue residency PMID:23516985 https://orcid.org/0000-0002-6181-4695 increase in the number of CD11b-low dendritic cells expressing CD103, a marker of tissue residency MPheno.ontology MP:0013654 increased CD103-positive CD11b-low dendritic cell number MP:0013654 increase in the number of CD11b-low dendritic cells expressing CD103, a marker of tissue residency PMID:23516985 https://orcid.org/0000-0002-6181-4695 reduction in the number of CD11b-low dendritic cells expressing CD103, a marker of tissue residency MPheno.ontology MP:0013655 decreased CD103-positive CD11b-low dendritic cell number MP:0013655 reduction in the number of CD11b-low dendritic cells expressing CD103, a marker of tissue residency PMID:23516985 https://orcid.org/0000-0002-6181-4695 any structural anomaly of any of the cells of the hematopoietic lineage abnormal haematopoietic cell morphology abnormal haemopoietic cell morphology abnormal hemopoietic cell morphology MPheno.ontology MP:0013656 abnormal hematopoietic cell morphology MP:0013656 any structural anomaly of any of the cells of the hematopoietic lineage CL:0000988 any structural anomaly of cells found in the blood MPheno.ontology MP:0013657 abnormal blood cell morphology MP:0013657 any structural anomaly of cells found in the blood CL:0000081 any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage MPheno.ontology MP:0013658 abnormal myeloid cell morphology MP:0013658 any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage CL:0000763 any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes MPheno.ontology MP:0013659 abnormal erythroid lineage cell morphology MP:0013659 any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes CL:0000764 any structural anomaly of hematopoietic cells that are resident in the bone marrow, including hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes abnormal bone marrow haematopoietic cell morphology MPheno.ontology MP:0013660 abnormal bone marrow hematopoietic cell morphology MP:0013660 any structural anomaly of hematopoietic cells that are resident in the bone marrow, including hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes CL:1001610 any anomaly in the expected number of cells of the myeloid lineage MPheno.ontology MP:0013661 abnormal myeloid cell number MP:0013661 any anomaly in the expected number of cells of the myeloid lineage CL:0000763 reduction in the expected number of cells of the myeloid lineage MPheno.ontology MP:0013662 decreased myeloid cell number MP:0013662 reduction in the expected number of cells of the myeloid lineage CL:0000763 greater than the expected number of cells of the myeloid lineage MPheno.ontology MP:0013663 increased myeloid cell number MP:0013663 greater than the expected number of cells of the myeloid lineage CL:0000763 anomaly in the number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity abnormal number of immature B cells abnormal number of immature B lymphocytes abnormal number of immature B-cells abnormal number of immature B-lymphocytes MPheno.ontology MP:0013664 abnormal immature B cell number MP:0013664 anomaly in the number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity ISBN:0-8153-1691-7 anomaly in the number of NK cells lacking expression of the maturation marker CD11b abnormal immature natural killer cell number MPheno.ontology MP:0013665 abnormal immature NK cell number MP:0013665 anomaly in the number of NK cells lacking expression of the maturation marker CD11b https://orcid.org/0000-0002-6181-4695 reduction in the number of NK cells lacking expression of the maturation marker CD11b decreased immature natural killer cell number reduced immature natural killer cell number MPheno.ontology MP:0013666 decreased immature NK cell number MP:0013666 reduction in the number of NK cells lacking expression of the maturation marker CD11b https://orcid.org/0000-0002-6181-4695 increase in the number of NK cells lacking expression of the maturation marker CD11b increased immature natural killer cell number MPheno.ontology MP:0013667 increased immature NK cell number MP:0013667 increase in the number of NK cells lacking expression of the maturation marker CD11b https://orcid.org/0000-0002-6181-4695 anomaly in the number of immature NK cells expressing the memory marker Ly6C abnormal Ly6C-positive immature natural killer cell number MPheno.ontology MP:0013668 abnormal Ly6C-positive immature NK cell number MP:0013668 anomaly in the number of immature NK cells expressing the memory marker Ly6C https://orcid.org/0000-0002-6181-4695 reduction in the number of immature NK cells expressing the memory marker Ly6C decreased Ly6C-positive immature natural killer cell number reduced Ly6C-positive immature NK cell number MPheno.ontology MP:0013669 decreased Ly6C-positive immature NK cell number MP:0013669 reduction in the number of immature NK cells expressing the memory marker Ly6C https://orcid.org/0000-0002-6181-4695 increase in the number of immature NK cells expressing the memory marker Ly6C increased Ly6C-positive immature natural killer cell number MPheno.ontology MP:0013670 increased Ly6C-positive immature NK cell number MP:0013670 increase in the number of immature NK cells expressing the memory marker Ly6C https://orcid.org/0000-0002-6181-4695 anomaly in the number of NK cells expressing the maturation marker CD11b MPheno.ontology MP:0013671 abnormal mature NK cell number MP:0013671 anomaly in the number of NK cells expressing the maturation marker CD11b https://orcid.org/0000-0002-6181-4695 reduction in the number of NK cells expressing the maturation marker CD11b decreased mature natural killer cell number reduced mature NK cell number MPheno.ontology MP:0013672 decreased mature NK cell number MP:0013672 reduction in the number of NK cells expressing the maturation marker CD11b https://orcid.org/0000-0002-6181-4695 increase in the number of NK cells expressing the maturation marker CD11b increased mature natural killer cell number MPheno.ontology MP:0013673 increased mature NK cell number MP:0013673 increase in the number of NK cells expressing the maturation marker CD11b https://orcid.org/0000-0002-6181-4695 anomaly in the number of mature NK cells expressing the memory marker Ly6C abnormal Ly6C-positive mature natural killer cell number MPheno.ontology MP:0013674 abnormal Ly6C-positive mature NK cell number MP:0013674 anomaly in the number of mature NK cells expressing the memory marker Ly6C https://orcid.org/0000-0002-6181-4695 reduction in the number of mature NK cells expressing the memory marker Ly6C decreased Ly6C-positive mature natural killer cell number reduced Ly6C-positive mature NK cell number MPheno.ontology MP:0013675 decreased Ly6C-positive mature NK cell number MP:0013675 reduction in the number of mature NK cells expressing the memory marker Ly6C https://orcid.org/0000-0002-6181-4695 increase in the number of mature NK cells expressing the memory marker Ly6C MPheno.ontology MP:0013676 increased Ly6C-positive mature NK cell number MP:0013676 increase in the number of mature NK cells expressing the memory marker Ly6C https://orcid.org/0000-0002-6181-4695 anomaly in the number of NK T cells expressing the memory marker Ly6C abnormal Ly6C-positive natural killer T cell number MPheno.ontology MP:0013677 abnormal Ly6C-positive NK T cell number MP:0013677 anomaly in the number of NK T cells expressing the memory marker Ly6C https://orcid.org/0000-0002-6181-4695 reduction in the number of NK T cells expressing the memory marker Ly6C decreased Ly6C-positive natural killer T cell number reduced Ly6C-positive NK T cell number MPheno.ontology MP:0013678 decreased Ly6C-positive NK T cell number MP:0013678 reduction in the number of NK T cells expressing the memory marker Ly6C https://orcid.org/0000-0002-6181-4695 increase in the number of NK T cells expressing the memory marker Ly6C increased Ly6C-positive natural killer T cell number MPheno.ontology MP:0013679 increased Ly6C-positive NK T cell number MP:0013679 increase in the number of NK T cells expressing the memory marker Ly6C https://orcid.org/0000-0002-6181-4695 anomaly in the number of a rapidly cycling mature B cell which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen abnormal germinal centre B cell number MPheno.ontology MP:0013680 abnormal germinal center B cell number MP:0013680 anomaly in the number of a rapidly cycling mature B cell which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen CL:0000844 GO:0002314 any structural anomaly of germinal center B cells with residual expression of IgD abnormal early germinal centre B cell number MPheno.ontology MP:0013681 abnormal early germinal center B cell number MP:0013681 any structural anomaly of germinal center B cells with residual expression of IgD https://orcid.org/0000-0002-6181-4695 anomaly in the number of germinal center B cells expressing IgG1 and lacking expression of IgD abnormal late germinal centre B cell number MPheno.ontology MP:0013682 abnormal late germinal center B cell number MP:0013682 anomaly in the number of germinal center B cells expressing IgG1 and lacking expression of IgD https://orcid.org/0000-0002-6181-4695 reduction in the number of germinal center B cells with residual expression of IgD decreased early germinal centre B cell number reduced early germinal center B cell number reduced early germinal centre B cell number MPheno.ontology MP:0013683 decreased early germinal center B cell number MP:0013683 reduction in the number of germinal center B cells with residual expression of IgD https://orcid.org/0000-0002-6181-4695 increase in the number of germinal center B cells with residual expression of IgD increased early germinal centre B cell number MPheno.ontology MP:0013684 increased early germinal center B cell number MP:0013684 increase in the number of germinal center B cells with residual expression of IgD https://orcid.org/0000-0002-6181-4695 reduction in the number of germinal center B cells expressing IgG1 and lacking expression of IgD decreased late germinal centre B cell number reduced late germinal center B cell number reduced late germinal centre B cell number MPheno.ontology MP:0013685 decreased late germinal center B cell number MP:0013685 reduction in the number of germinal center B cells expressing IgG1 and lacking expression of IgD https://orcid.org/0000-0002-6181-4695 increase in the number of germinal center B cells expressing IgG1 and lacking expression of IgD increased late germinal centre B cell number MPheno.ontology MP:0013686 increased late germinal center B cell number MP:0013686 increase in the number of germinal center B cells expressing IgG1 and lacking expression of IgD https://orcid.org/0000-0002-6181-4695 anomaly in the number of T cells expressing CD5, a negative regulator of T cell signaling MPheno.ontology MP:0013687 abnormal CD5-positive T cell number MP:0013687 anomaly in the number of T cells expressing CD5, a negative regulator of T cell signaling https://orcid.org/0000-0002-6181-4695 reduction in the number of T cells expressing CD5, a negative regulator of T cell signaling reduced CD5-positive T cell number MPheno.ontology MP:0013688 decreased CD5-positive T cell number MP:0013688 reduction in the number of T cells expressing CD5, a negative regulator of T cell signaling https://orcid.org/0000-0002-6181-4695 increase in the number of T cells expressing CD5, a negative regulator of T cell signaling MPheno.ontology MP:0013689 increased CD5-positive T cell number MP:0013689 increase in the number of T cells expressing CD5, a negative regulator of T cell signaling https://orcid.org/0000-0002-6181-4695 anomaly in the number of CD5-positive T cells expressing the memory marker Ly6C MPheno.ontology MP:0013690 abnormal CD5-positive Ly6C-positive T cell number MP:0013690 anomaly in the number of CD5-positive T cells expressing the memory marker Ly6C https://orcid.org/0000-0002-6181-4695 reduction in the number of CD5-positive T cells expressing the memory marker Ly6C reduced CD5-positive Ly6C-positive T cell number MPheno.ontology MP:0013691 decreased CD5-positive Ly6C-positive T cell number MP:0013691 reduction in the number of CD5-positive T cells expressing the memory marker Ly6C https://orcid.org/0000-0002-6181-4695 increase in the number of CD5-positive T cells expressing the memory marker Ly6C MPheno.ontology MP:0013692 increased CD5-positive Ly6C-positive T cell number MP:0013692 increase in the number of CD5-positive T cells expressing the memory marker Ly6C https://orcid.org/0000-0002-6181-4695 any anomaly in the process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure; the site of hemopoiesis is variable during development, but occurs primarily in bone marrow in mammals abnormal blood cell biosynthesis abnormal blood cell formation abnormal haematopoiesis abnormal haemopoiesis abnormal hematopoiesis hematopoiesis abnormalities MPheno.ontology MP:0013693 abnormal hemopoiesis MP:0013693 any anomaly in the process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure; the site of hemopoiesis is variable during development, but occurs primarily in bone marrow in mammals GO:0030097 any structural anomaly of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 abnormal CFU-GM morphology abnormal GMP morphology abnormal colony forming unit granulocyte macrophage morphology abnormal granulocyte-macrophage progenitor morphology abnormal granulocyte/monocyte precursor morphology abnormal granulocyte/monocyte progenitor morphology MPheno.ontology MP:0013694 abnormal granulocyte monocyte progenitor cell morphology MP:0013694 any structural anomaly of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 CL:0000557 PMID:16551251 anomaly in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 abnormal CFU-GM cell number abnormal GMP cell number abnormal colony forming unit granulocyte macrophage cell number abnormal granulocyte-macrophage progenitor cell number abnormal granulocyte/monocyte precursor cell number abnormal granulocyte/monocyte progenitor cell number MPheno.ontology MP:0013695 abnormal granulocyte monocyte progenitor cell number MP:0013695 anomaly in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 CL:0000557 PMID:16551251 increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 increased CFU-GM cell number increased GMP cell number increased colony forming unit granulocyte macrophage cell number increased granulocyte-macrophage progenitor cell number increased granulocyte/monocyte precursor cell number increased granulocyte/monocyte progenitor cell number MPheno.ontology MP:0013696 increased granulocyte monocyte progenitor cell number MP:0013696 increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 CL:0000557 PMID:16551251 reduction in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 decreased CFU-GM cell number decreased GMP cell number decreased colony forming unit granulocyte macrophage cell number decreased granulocyte-macrophage progenitor cell number decreased granulocyte/monocyte precursor cell number decreased granulocyte/monocyte progenitor cell number reduced CFU-GM cell number reduced GMP cell number reduced colony forming unit granulocyte macrophage cell number reduced granulocyte monocyte progenitor cell number reduced granulocyte-macrophage progenitor cell number reduced granulocyte/monocyte precursor cell number reduced granulocyte/monocyte progenitor cell number MPheno.ontology MP:0013697 decreased granulocyte monocyte progenitor cell number MP:0013697 reduction in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 CL:0000557 PMID:16551251 absence of hematopoietic progenitor cells that are committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 absent CFU-GM cells absent GMP cells absent colony forming unit granulocyte macrophage cells absent granulocyte-macrophage progenitor cells absent granulocyte/monocyte precursor cells absent granulocyte/monocyte progenitor cells MPheno.ontology MP:0013698 absent granulocyte monocyte progenitor cells MP:0013698 absence of hematopoietic progenitor cells that are committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 CL:0000557 PMID:16551251 any structural anomaly in the number of NK cells lacking expression of the maturation marker CD11b abnormal immature natural killer cell morphology MPheno.ontology MP:0013699 abnormal immature NK cell morphology MP:0013699 any structural anomaly in the number of NK cells lacking expression of the maturation marker CD11b https://orcid.org/0000-0002-6181-4695 any structural anomaly of NK cells expressing the maturation marker CD11b abnormal lymphokine activated killer cell morphology abnormal mature natural killer cell morphology MPheno.ontology MP:0013700 abnormal mature NK cell morphology MP:0013700 any structural anomaly of NK cells expressing the maturation marker CD11b https://orcid.org/0000-0002-6181-4695 anomaly in the number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex MPheno.ontology MP:0013701 abnormal mature B cell number MP:0013701 anomaly in the number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex CL:0000785 any structural anomaly of a progenitor cell committed to the megakaryocyte and erythroid lineages abnormal CFU-EM morphology abnormal CFU-MegE morphology abnormal MEP morphology abnormal Meg/E progenitor morphology abnormal colony forming unit erythroid megakaryocyte morphology abnormal megakaryocyte/erythrocyte progenitor morphology abnormal megakaryocyte/erythroid progenitor cell morphology MPheno.ontology MP:0013702 abnormal megakaryocyte-erythroid progenitor cell morphology MP:0013702 any structural anomaly of a progenitor cell committed to the megakaryocyte and erythroid lineages CL:0000050 anomaly in the number of a progenitor cell committed to the megakaryocyte and erythroid lineages abnormal CFU-EM number abnormal CFU-MegE number abnormal MEP number abnormal Meg/E progenitor number abnormal colony forming unit erythroid megakaryocyte number abnormal megakaryocyte/erythrocyte progenitor number abnormal megakaryocyte/erythroid progenitor cell number MPheno.ontology MP:0013703 abnormal megakaryocyte-erythroid progenitor cell number MP:0013703 anomaly in the number of a progenitor cell committed to the megakaryocyte and erythroid lineages CL:0000050 increase in the number of a progenitor cell committed to the megakaryocyte and erythroid lineages increased CFU-EM number increased CFU-MegE number increased MEP number increased Meg/E progenitor number increased colony forming unit erythroid megakaryocyte number increased megakaryocyte/erythrocyte progenitor number increased megakaryocyte/erythroid progenitor cell number MPheno.ontology MP:0013704 increased megakaryocyte-erythroid progenitor cell number MP:0013704 increase in the number of a progenitor cell committed to the megakaryocyte and erythroid lineages CL:0000050 reduced number of a progenitor cell committed to the megakaryocyte and erythroid lineages decreased CFU-EM number decreased CFU-MegE number decreased MEP number decreased Meg/E progenitor number decreased colony forming unit erythroid megakaryocyte number decreased megakaryocyte/erythrocyte progenitor number decreased megakaryocyte/erythroid progenitor cell number reduced CFU-EM number reduced CFU-MegE number reduced MEP number reduced Meg/E progenitor number reduced colony forming unit erythroid megakaryocyte number reduced megakaryocyte-erythroid progenitor cell number reduced megakaryocyte/erythrocyte progenitor number reduced megakaryocyte/erythroid progenitor cell number MPheno.ontology MP:0013705 decreased megakaryocyte-erythroid progenitor cell number MP:0013705 reduced number of a progenitor cell committed to the megakaryocyte and erythroid lineages CL:0000050 absence of progenitor cells committed to the megakaryocyte and erythroid lineages absent CFU-EM cells absent CFU-MegE cells absent MEP cells absent Meg/E progenitor cells absent colony forming unit erythroid megakaryocyte cells absent megakaryocyte/erythrocyte progenitor cells absent megakaryocyte/erythroid progenitor cell cells MPheno.ontology MP:0013706 absent megakaryocyte-erythroid progenitor cells MP:0013706 absence of progenitor cells committed to the megakaryocyte and erythroid lineages CL:0000050 any structural anomaly of a hematopoietic cell that is a precursor of some other hematopoietic cell type abnormal HPC morphology abnormal HPCs morphology abnormal haematopoietic precursor cell morphology MPheno.ontology MP:0013707 abnormal hematopoietic precursor cell morphology MP:0013707 any structural anomaly of a hematopoietic cell that is a precursor of some other hematopoietic cell type CL:0008001 anomaly in the number of a hematopoietic cell that is a precursor of some other hematopoietic cell type abnormal HPC number abnormal HPCs number abnormal haematopoietic precursor cell number MPheno.ontology MP:0013708 abnormal hematopoietic precursor cell number MP:0013708 anomaly in the number of a hematopoietic cell that is a precursor of some other hematopoietic cell type CL:0008001 any structural anomaly of either of two mammary glands located in the cervical (i.e. neck) region, forward of the axial area of the forelimbs (mice have a single pair of cervical mammary glands) MPheno.ontology MP:0013709 The neonatal male and female rat and mouse have 6 and 5 pairs of glands, respectively, with a single, central lactiferous duct, several branching secondary ducts, and numerous tertiary ducts (Ceriani 1970; Cardiff and Wellings 1999). In the rat, the glands are distributed in pairs along the milk line, with 1 pair cervical, 2 thoracic, 1 abdominal, and 2 inguinal (Astwood, Geschickter, and Rausch 1937). Distribution in the mouse is in the neck, chest wall (2 pairs), abdominal wall, and inguinal region (Cardiff and Wellings 1999). abnormal cervical mammary gland morphology MP:0013709 any structural anomaly of either of two mammary glands located in the cervical (i.e. neck) region, forward of the axial area of the forelimbs (mice have a single pair of cervical mammary glands) ISBN:1483269485 PMID:22949413 any structural anomaly of either of the two mammary glands located in the abdominal wall (mice have a single pair of abdominal mammary glands) MPheno.ontology MP:0013710 The neonatal male and female rat and mouse have 6 and 5 pairs of glands, respectively, with a single, central lactiferous duct, several branching secondary ducts, and numerous tertiary ducts (Ceriani 1970; Cardiff and Wellings 1999). In the rat, the glands are distributed in pairs along the milk line, with 1 pair cervical, 2 thoracic, 1 abdominal, and 2 inguinal (Astwood, Geschickter, and Rausch 1937). Distribution in the mouse is in the neck, chest wall (2 pairs), abdominal wall, and inguinal region (Cardiff and Wellings 1999). abnormal abdominal mammary gland morphology MP:0013710 any structural anomaly of either of the two mammary glands located in the abdominal wall (mice have a single pair of abdominal mammary glands) ISBN:1483269485 PMID:22949413 any structural anomaly of either of the two mammary glands located in the inguinal region between the hind legs (mice have a single pair of inguinal mammary glands) MPheno.ontology MP:0013711 The neonatal male and female rat and mouse have 6 and 5 pairs of glands, respectively, with a single, central lactiferous duct, several branching secondary ducts, and numerous tertiary ducts (Ceriani 1970; Cardiff and Wellings 1999). In the rat, the glands are distributed in pairs along the milk line, with 1 pair cervical, 2 thoracic, 1 abdominal, and 2 inguinal (Astwood, Geschickter, and Rausch 1937). Distribution in the mouse is in the neck, chest wall (2 pairs), abdominal wall, and inguinal region (Cardiff and Wellings 1999). abnormal inguinal mammary gland morphology MP:0013711 any structural anomaly of either of the two mammary glands located in the inguinal region between the hind legs (mice have a single pair of inguinal mammary glands) ISBN:1483269485 PMID:22949413 any structural anomaly of any of the mammary glands located in the thoracic (i.e. pectoral or chest wall) region (mice have two pairs of thoracic mammary glands) MPheno.ontology MP:0013712 The neonatal male and female rat and mouse have 6 and 5 pairs of glands, respectively, with a single, central lactiferous duct, several branching secondary ducts, and numerous tertiary ducts (Ceriani 1970; Cardiff and Wellings 1999). In the rat, the glands are distributed in pairs along the milk line, with 1 pair cervical, 2 thoracic, 1 abdominal, and 2 inguinal (Astwood, Geschickter, and Rausch 1937). Distribution in the mouse is in the neck, chest wall (2 pairs), abdominal wall, and inguinal region (Cardiff and Wellings 1999). abnormal thoracic mammary gland morphology MP:0013712 any structural anomaly of any of the mammary glands located in the thoracic (i.e. pectoral or chest wall) region (mice have two pairs of thoracic mammary glands) ISBN:1483269485 PMID:22949413 reduced size of the erectile projection at the apex of the mammary gland where the lactiferous ducts open decreased papilla mammae size decreased teat size decreased thele mammae size decreased thelium mammae size reduced papilla mammae size reduced teat size reduced thele mammae size reduced thelium mammae size small nipple small papilla mammae small teat small thele small thele mammae small thelium small thelium mammae MPheno.ontology MP:0013713 decreased nipple size MP:0013713 reduced size of the erectile projection at the apex of the mammary gland where the lactiferous ducts open ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 anomaly in the expected number of the specialized accessory gland of the skin of mammals that secretes milk abnormal Brustdruese number abnormal Lactiferous gland number abnormal Lobe of breast number abnormal Lobe of mammary gland number abnormal breast number abnormal glandula mammaria number abnormal lactiferous gland number abnormal lobe of breast number abnormal lobe of mammary gland number abnormal mamma number abnormal mammae number MPheno.ontology MP:0013714 abnormal mammary gland number MP:0013714 anomaly in the expected number of the specialized accessory gland of the skin of mammals that secretes milk https://orcid.org/0000-0003-3691-0324 fewer than the expected number of the specialized accessory gland of the skin of mammals that secretes milk decreased Brustdruese number decreased Lactiferous gland number decreased Lobe of breast number decreased Lobe of mammary gland number decreased breast number decreased glandula mammaria number decreased lactiferous gland number decreased lobe of breast number decreased lobe of mammary gland number decreased mamma number decreased mammae number MPheno.ontology MP:0013715 decreased mammary gland number MP:0013715 fewer than the expected number of the specialized accessory gland of the skin of mammals that secretes milk https://orcid.org/0000-0002-6490-7723 partial failure, or reduced ability to produce or secrete milk from the mammary gland decreased lactation decreased milk production decreased milk secretion hypogalactia insufficient lactation low milk supply reduced lactation reduced milk production reduced milk secretion MPheno.ontology MP:0013716 hypolactation MP:0013716 partial failure, or reduced ability to produce or secrete milk from the mammary gland https://orcid.org/0000-0002-6490-7723 secretion of milk from the mammary gland in excessive amount, or for an abnormally prolonged period excessive lactation hypergalactia increased lactation increased milk production increased milk secretion superlactation MPheno.ontology MP:0013717 hyperlactation MP:0013717 secretion of milk from the mammary gland in excessive amount, or for an abnormally prolonged period https://orcid.org/0000-0002-6490-7723 abnormal accumulation of milk within the mammary gland alveoli and ducts due to failure of ejection (letdown) from the gland; may be associated with nipple anatomic abnormalities failure of milk ejection milk ejection failure milk stasis MPheno.ontology MP:0013718 galactostasis MP:0013718 abnormal accumulation of milk within the mammary gland alveoli and ducts due to failure of ejection (letdown) from the gland; may be associated with nipple anatomic abnormalities https://orcid.org/0000-0002-6490-7723 loss of the normal reddish-pink color of mammary gland tissue MPheno.ontology MP:0013719 pale mammary gland MP:0013719 loss of the normal reddish-pink color of mammary gland tissue https://orcid.org/0000-0002-6490-7723 any structural anomaly of either of the presumptive bilateral epidermal ridges (milk lines) formed at the onset of mammogenesis and running in an anteroposterior direction ventrally between fore- and hindlimbs, one line along each flank of the embryo; in mouse, mammary gland development begins shortly after mid-gestation (about E10.5); epidermal cells within the milk line become columnar and multilayered, defining a ridge that protrudes above and below the plane of the single-layered primitive epidermis or periderm; by E11.5, five pairs of lens-shaped placodes form along the mammary line at the site of each future nipple abnormal mammary fold morphology abnormal mammary gland ridge morphology abnormal mammary ridge morphology abnormal milk line morphology MPheno.ontology MP:0013720 abnormal mammary line morphology MP:0013720 any structural anomaly of either of the presumptive bilateral epidermal ridges (milk lines) formed at the onset of mammogenesis and running in an anteroposterior direction ventrally between fore- and hindlimbs, one line along each flank of the embryo; in mouse, mammary gland development begins shortly after mid-gestation (about E10.5); epidermal cells within the milk line become columnar and multilayered, defining a ridge that protrudes above and below the plane of the single-layered primitive epidermis or periderm; by E11.5, five pairs of lens-shaped placodes form along the mammary line at the site of each future nipple PMID:12558599 PMID:16524451 any structural anomaly of the transient lens-shaped thickening of surface ectoderm that will give rise to the mammary bud proper; in mouse, five pairs of symmetrically positioned mammary placodes (three thoracic and two inguinal) form at reproducible locations along the mammary line at E11.5; the individual pairs develop asynchronously and in a distinct order; pair 3 is first, followed by pair 4, then by pairs 1 and 5 (which develop together), and finally by pair 2; the orientation of placodal cells is not uniform, suggesting that placodes are formed by migration of cells from the mammary line; between E11.5 and E12.5, each mammary placode expands and invaginates into the underlying mesenchyme to form an early bulb-shaped mammary bud MPheno.ontology MP:0013721 abnormal mammary placode morphology MP:0013721 any structural anomaly of the transient lens-shaped thickening of surface ectoderm that will give rise to the mammary bud proper; in mouse, five pairs of symmetrically positioned mammary placodes (three thoracic and two inguinal) form at reproducible locations along the mammary line at E11.5; the individual pairs develop asynchronously and in a distinct order; pair 3 is first, followed by pair 4, then by pairs 1 and 5 (which develop together), and finally by pair 2; the orientation of placodal cells is not uniform, suggesting that placodes are formed by migration of cells from the mammary line; between E11.5 and E12.5, each mammary placode expands and invaginates into the underlying mesenchyme to form an early bulb-shaped mammary bud PMID:16168142 PMID:20484386 aberrant concentration in the blood of tyrosine or 4-hydroxyphenylalanine, a non-essential amino acid with a polar side group present in most proteins and synthesized metabolically from phenylalanine; tyrosine is a precursor of melanin, catecholamines, and thyroid hormones MPheno.ontology MP:0013722 abnormal circulating tyrosine level MP:0013722 aberrant concentration in the blood of tyrosine or 4-hydroxyphenylalanine, a non-essential amino acid with a polar side group present in most proteins and synthesized metabolically from phenylalanine; tyrosine is a precursor of melanin, catecholamines, and thyroid hormones https://medical-dictionary.thefreedictionary.com/tyrosine increase in the amount per unit of blood of tyrosine tyrosinaemia tyrosinemia MPheno.ontology MP:0013723 increased circulating tyrosine level MP:0013723 increase in the amount per unit of blood of tyrosine https://orcid.org/0000-0002-6490-7723 reduction in the amount per unit of blood of tyrosine reduced circulating tyrosine level MPheno.ontology MP:0013724 decreased circulating tyrosine level MP:0013724 reduction in the amount per unit of blood of tyrosine https://orcid.org/0000-0002-6490-7723 any structural anomaly of the solid cord of epithelial cells that emerges from the mammary bud and grows down from the primary mammary mesenchyme and into a second stromal compartment, the fat pad precursor, beneath the dermis; in female mouse embryos, the primary mammary cord (mammary sprout) is formed between E15.5 and E16.5; once the primary cord reaches the adipocytes of the fat pad (around E16), it begins to branch in a characteristic dichotomous fashion to form the initial ductal tree abnormal mammary cord morphology abnormal mammary sprout morphology MPheno.ontology MP:0013725 abnormal mammary gland cord morphology MP:0013725 any structural anomaly of the solid cord of epithelial cells that emerges from the mammary bud and grows down from the primary mammary mesenchyme and into a second stromal compartment, the fat pad precursor, beneath the dermis; in female mouse embryos, the primary mammary cord (mammary sprout) is formed between E15.5 and E16.5; once the primary cord reaches the adipocytes of the fat pad (around E16), it begins to branch in a characteristic dichotomous fashion to form the initial ductal tree PMID:15342465 PMID:18296651 http://www.informatics.jax.org/greenbook/frames/frame13.shtml any anomaly in the process by which the mammary gland cord forms by elongation of the mammary bud; in female mouse embryos, the cord is formed between E15.5 and E16.5, once the elongating bud breaks through the primary mammary mesenchyme and reaches the fat pad precursor, and remains connected to the epidermis; by E16.5 a lumen develops within the sprout resulting in a primary duct opening to the exterior, and the nipple forms by differentiation of the overlying epidermis in response to signals from specialized mammary mesenchyme; in male mouse embryos, the activation of androgen receptors causes the mammary buds to separate from the epithelium between E14.5 and E15.5 and subsequently degenerate abnormal mammary cord formation abnormal mammary sprout formation abnormal mammary sprouting MPheno.ontology MP:0013726 abnormal mammary gland cord formation MP:0013726 any anomaly in the process by which the mammary gland cord forms by elongation of the mammary bud; in female mouse embryos, the cord is formed between E15.5 and E16.5, once the elongating bud breaks through the primary mammary mesenchyme and reaches the fat pad precursor, and remains connected to the epidermis; by E16.5 a lumen develops within the sprout resulting in a primary duct opening to the exterior, and the nipple forms by differentiation of the overlying epidermis in response to signals from specialized mammary mesenchyme; in male mouse embryos, the activation of androgen receptors causes the mammary buds to separate from the epithelium between E14.5 and E15.5 and subsequently degenerate GO:0060616 PMID:15342465 PMID:18296651 http://www.informatics.jax.org/greenbook/frames/frame13.shtml any structural abnormality of the circular ingrowth of the epidermis around the origin of the mammary cord (mammary sprout); in female mouse embryos, the nipple sheath is the first histological evidence of nipple formation seen at E16.5; at E18, the epidermis at the bottom of this epidermal ingrowth is lifted, making a rounded elevated portion, which is the anlage of the nipple MPheno.ontology MP:0013727 abnormal nipple sheath morphology MP:0013727 any structural abnormality of the circular ingrowth of the epidermis around the origin of the mammary cord (mammary sprout); in female mouse embryos, the nipple sheath is the first histological evidence of nipple formation seen at E16.5; at E18, the epidermis at the bottom of this epidermal ingrowth is lifted, making a rounded elevated portion, which is the anlage of the nipple GO:0060659 PMID:12558599 any anomaly in the developmental process pertaining to the initial formation of the nipple sheath from the unspecified epidermis; in female mouse embryos, this process begins with a circular ingrowth of the epidermis around the origin of the mammary cord (mammary sprout) at E16.5 and ends before the underlying epidermis begins to elevate MPheno.ontology MP:0013728 abnormal nipple sheath formation MP:0013728 any anomaly in the developmental process pertaining to the initial formation of the nipple sheath from the unspecified epidermis; in female mouse embryos, this process begins with a circular ingrowth of the epidermis around the origin of the mammary cord (mammary sprout) at E16.5 and ends before the underlying epidermis begins to elevate GO:0060659 PMID:12558599 absence or failure of formation of the circular ingrowth of the epidermis around the origin of the mammary cord (mammary sprout); in female mouse embryos, the nipple sheath is the first histological evidence of nipple formation seen at E16.5 MPheno.ontology MP:0013729 absent nipple sheath MP:0013729 absence or failure of formation of the circular ingrowth of the epidermis around the origin of the mammary cord (mammary sprout); in female mouse embryos, the nipple sheath is the first histological evidence of nipple formation seen at E16.5 PMID:12558599 elevated concentrations of the reducing agent glutathione in urine increased urine GSH level increased urine glutathione level MPheno.ontology MP:0013730 glutathionuria MP:0013730 elevated concentrations of the reducing agent glutathione in urine MGI:llw2 an early stage cataract in which the lens is partially opaque, absorbs fluid and increases by swelling; the lens is only slightly opaque and the cortex is clear cataracta immatura immature cataracts MPheno.ontology MP:0013731 immature cataract MP:0013731 an early stage cataract in which the lens is partially opaque, absorbs fluid and increases by swelling; the lens is only slightly opaque and the cortex is clear ISBN:978-0-323-05290-0 ISBN:978-0-7020-2788-8 cataract in which the both the lens nucleus and cortex are opaque and lens fibers are swollen mature cataracts ripe cataract MPheno.ontology MP:0013732 mature cataract MP:0013732 cataract in which the both the lens nucleus and cortex are opaque and lens fibers are swollen ISBN:978-0-323-05290-0 a benign non-cancerous transformation of the bulbourethral glandular epithelium into stratified squamous epithelium; keratinization may be present squamous metaplasia of Cowper's gland squamous metaplasia of Mery gland squamous metaplasia of bulbo-urethral gland squamous metaplasia of glandula bulbourethralis MPheno.ontology MP:0013733 squamous metaplasia of bulbourethral gland MP:0013733 a benign non-cancerous transformation of the bulbourethral glandular epithelium into stratified squamous epithelium; keratinization may be present PMID:19117991 https://orcid.org/0000-0002-6490-7723 a benign non-cancerous transformation of the preputial glandular epithelium into stratified squamous epithelium; keratinization may be present MPheno.ontology MP:0013734 squamous metaplasia of preputial gland MP:0013734 a benign non-cancerous transformation of the preputial glandular epithelium into stratified squamous epithelium; keratinization may be present PMID:19117991 https://orcid.org/0000-0002-6490-7723 a benign non-cancerous transformation of the urethral glandular epithelium into stratified squamous epithelium; keratinization may be present MPheno.ontology MP:0013735 squamous metaplasia of urethral gland MP:0013735 a benign non-cancerous transformation of the urethral glandular epithelium into stratified squamous epithelium; keratinization may be present PMID:19117991 https://orcid.org/0000-0002-6490-7723 aberrant formation or incomplete differentiation of either of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; in mouse, bulbourethral glands are first identifiable at E17.5 and epithelial branching normally starts at postnatal day P1; during development, bulbourethral glands arise as epithelial outgrowths of the endodermal urogenital sinus invading the condensed mesenchyme flanking the primitive urethra; during subsequent development the epithelium branches extensively, filling the mesenchymal capsule and giving rise to the highly arborized ductal system of the mature organ abnormal Cowper's gland development abnormal Mery gland development abnormal bulbo-urethral gland development abnormal glandula bulbourethralis development MPheno.ontology MP:0013736 abnormal bulbourethral gland development MP:0013736 aberrant formation or incomplete differentiation of either of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; in mouse, bulbourethral glands are first identifiable at E17.5 and epithelial branching normally starts at postnatal day P1; during development, bulbourethral glands arise as epithelial outgrowths of the endodermal urogenital sinus invading the condensed mesenchyme flanking the primitive urethra; during subsequent development the epithelium branches extensively, filling the mesenchymal capsule and giving rise to the highly arborized ductal system of the mature organ PMID:12220125 https://orcid.org/0000-0002-6490-7723 reduced size of either of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle decreased bulbourethral gland size reduced bulbourethral gland size small Cowper's gland small Mery gland small bulbo-urethral gland small glandula bulbourethralis MPheno.ontology MP:0013737 small bulbourethral gland MP:0013737 reduced size of either of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle PMID:19117991 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the dense fibrous connective tissue layer that covers the testis MPheno.ontology MP:0013738 abnormal testis tunica albuginea morphology MP:0013738 any structural anomaly of the dense fibrous connective tissue layer that covers the testis PMID:16412416 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the outer coelomic epithelial covering of the testis; a sac of serous tissue covering the testis and the epididymis within which the testis can move about; it covers the tunica albuginea MPheno.ontology MP:0013739 abnormal testis tunica vaginalis morphology MP:0013739 any structural anomaly of the outer coelomic epithelial covering of the testis; a sac of serous tissue covering the testis and the epididymis within which the testis can move about; it covers the tunica albuginea PMID:17452023 https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the Meibomian gland, typically resulting in increased size hyperplastic Meibomian gland hyperplastic tarsal gland tarsal gland hyperplasia MPheno.ontology MP:0013740 Meibomian gland hyperplasia MP:0013740 increase in the number of normal cells in normal arrangement in the Meibomian gland, typically resulting in increased size PMID:23792463 https://orcid.org/0000-0002-6490-7723 complete absence or loss of the dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, dendritic cells, variable numbers of perivascular B-lymphocytes and plasma cells; normally, this is the site of entry of bone marrow stem cells and exit of mature, functional T cells absent thymic corticomedullary boundary absent thymus CMZ absent thymus cortico-medullary boundary absent thymus cortico-medullary junction absent thymus cortico-medullary zone absent thymus corticomedullary junction absent thymus corticomedullary zone MPheno.ontology MP:0013741 absent thymus corticomedullary boundary MP:0013741 complete absence or loss of the dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, dendritic cells, variable numbers of perivascular B-lymphocytes and plasma cells; normally, this is the site of entry of bone marrow stem cells and exit of mature, functional T cells PMID:17067941 https://orcid.org/0000-0002-6490-7723 absence of the thickened portion of the vascular tunic, which lies between the choroid and the iris MPheno.ontology MP:0013742 absent ciliary body MP:0013742 absence of the thickened portion of the vascular tunic, which lies between the choroid and the iris ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the ciliary body, typically resulting in decreased size hypoplastic ciliary body MPheno.ontology MP:0013743 ciliary body hypoplasia MP:0013743 decrease in the number of normal cells in normal arrangement in the ciliary body, typically resulting in decreased size ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the space bound by the conjunctival membrane between the palpebral and bulbar conjunctiva, into which the lacrimal fluid is secreted; it is a closed space when eye is closed; when eye is open, the sac is open anteriorly through the palpebral fissure (between the eyelids) abnormal saccus conjunctivalis morphology MPheno.ontology MP:0013744 abnormal conjunctival sac morphology MP:0013744 any structural anomaly of the space bound by the conjunctival membrane between the palpebral and bulbar conjunctiva, into which the lacrimal fluid is secreted; it is a closed space when eye is closed; when eye is open, the sac is open anteriorly through the palpebral fissure (between the eyelids) http://www.medilexicon.com/medicaldictionary.php?t=79277 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium abnormal eyelid border morphology abnormal limbi palpebrales morphology abnormal margo palpebrae morphology abnormal palpebral margin morphology MPheno.ontology MP:0013745 abnormal eyelid margin morphology MP:0013745 any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium http://one.aao.org/bcscsnippetdetail.aspx?id=2b7328d7-5eb2-4df3-812a-031ff1c1f904 http://www.medilexicon.com/medicaldictionary.php?s=palpebral+margins https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the tubular canals of the parotid gland located within the parenchymal (secretory) tissue i.e. within lobules; both intercalated and striated (secretory) ducts are intralobular ducts MPheno.ontology MP:0013746 abnormal parotid intralobular duct morphology MP:0013746 any structural anomaly of any of the tubular canals of the parotid gland located within the parenchymal (secretory) tissue i.e. within lobules; both intercalated and striated (secretory) ducts are intralobular ducts http://ctrgenpath.net/static/atlas/mousehistology/Windows/digestive/parotide.html https://orcid.org/0000-0002-6490-7723 any structural anomaly of the small intralobular tubular canal that leads directly from the serous acinus of the parotid gland to a striated (secretory) duct; in mouse, the intercalated ducts are short and narrow and are lined by low cuboidal epithelial cells with large central nuclei; they secrete bicarbonate ion into and absorb chloride ion from the acinar product abnormal parotid intercalary duct morphology MPheno.ontology MP:0013747 abnormal parotid intercalated duct morphology MP:0013747 any structural anomaly of the small intralobular tubular canal that leads directly from the serous acinus of the parotid gland to a striated (secretory) duct; in mouse, the intercalated ducts are short and narrow and are lined by low cuboidal epithelial cells with large central nuclei; they secrete bicarbonate ion into and absorb chloride ion from the acinar product http://courseweb.edteched.uottawa.ca/medicine-histology/English/Gastrointestinal/Salivary.htm http://ctrgenpath.net/static/atlas/mousehistology/Windows/digestive/parotide.html http://en.wikipedia.org/wiki/Intercalated_duct https://orcid.org/0000-0002-6490-7723 any structural anomaly of the intralobular secretory duct of the parotid gland which connects an intercalated duct to an interlobular excretory duct; striated ducts are lined by cuboidal to columnar acidophilic cells and are so-named because of characteristic striations in the basal portions of the cells which are due to the alignment of mitochondria between deep infoldings of the basal cell membrane; the nucleus is in the central part of the cell above the striations; as they approach the excretory ducts, their diameter may exceed that of the acini; striated ducts reabsorb sodium and secrete potassium abnormal parotid secretory duct morphology MPheno.ontology MP:0013748 abnormal parotid striated duct morphology MP:0013748 any structural anomaly of the intralobular secretory duct of the parotid gland which connects an intercalated duct to an interlobular excretory duct; striated ducts are lined by cuboidal to columnar acidophilic cells and are so-named because of characteristic striations in the basal portions of the cells which are due to the alignment of mitochondria between deep infoldings of the basal cell membrane; the nucleus is in the central part of the cell above the striations; as they approach the excretory ducts, their diameter may exceed that of the acini; striated ducts reabsorb sodium and secrete potassium http://courseweb.edteched.uottawa.ca/medicine-histology/English/Gastrointestinal/Salivary.htm http://ctrgenpath.net/static/atlas/mousehistology/Windows/digestive/parotide.html http://en.wikipedia.org/wiki/Striated_duct any structural anomaly of the excretory ducts of the parotid gland which are found in the connective tissue septa i.e. between lobules MPheno.ontology MP:0013749 abnormal parotid interlobular duct morphology MP:0013749 any structural anomaly of the excretory ducts of the parotid gland which are found in the connective tissue septa i.e. between lobules http://courseweb.edteched.uottawa.ca/medicine-histology/English/Gastrointestinal/Salivary.htm http://ctrgenpath.net/static/atlas/mousehistology/Windows/digestive/parotide.html any structural anomaly of the interlobular excretory ducts of the parotid gland which are found in the connective tissue septa and formed by the union of several intralobular striated (secretory) ducts; ultimately, the excretory ducts of the parotid gland coalesce and form a single main excretory duct (Stensen's duct) that opens into the oral cavity; excretory ducts do not change the secretory product MPheno.ontology MP:0013750 abnormal parotid excretory duct morphology MP:0013750 any structural anomaly of the interlobular excretory ducts of the parotid gland which are found in the connective tissue septa and formed by the union of several intralobular striated (secretory) ducts; ultimately, the excretory ducts of the parotid gland coalesce and form a single main excretory duct (Stensen's duct) that opens into the oral cavity; excretory ducts do not change the secretory product http://courseweb.edteched.uottawa.ca/medicine-histology/English/Gastrointestinal/Salivary.htm http://ctrgenpath.net/static/atlas/mousehistology/Windows/digestive/parotide.html greater than the expected number of a histologically benign neoplasm derived from glandular epithelium, in which cystic accumulations of retained secretions are formed, occurring in a specific population in a given time period; in some instances, considerable portions of the neoplasm, or even the entire mass, may be cystic increased cystoadenoma incidence MPheno.ontology MP:0013751 increased cystadenoma incidence MP:0013751 greater than the expected number of a histologically benign neoplasm derived from glandular epithelium, in which cystic accumulations of retained secretions are formed, occurring in a specific population in a given time period; in some instances, considerable portions of the neoplasm, or even the entire mass, may be cystic http://medical-dictionary.thefreedictionary.com/cystoadenoma https://orcid.org/0000-0002-6490-7723 a high-pitched breath sound resulting from turbulent air flow in the larynx or lower in the bronchial tree; it should not to be confused with stertor which is a noise originating in the pharynx; stridor is a physical sign which is caused by a narrowed or obstructed airway; it can be inspiratory, expiratory or biphasic, although it is usually heard during inspiration MPheno.ontology MP:0013752 stridor MP:0013752 a high-pitched breath sound resulting from turbulent air flow in the larynx or lower in the bronchial tree; it should not to be confused with stertor which is a noise originating in the pharynx; stridor is a physical sign which is caused by a narrowed or obstructed airway; it can be inspiratory, expiratory or biphasic, although it is usually heard during inspiration http://en.wikipedia.org/wiki/Stridor https://orcid.org/0000-0002-6490-7723 a condition characterized by flaccidity of the tracheal support cartilage which leads to tracheal collapse especially when increased airflow is demanded; the trachea normally dilates slightly during inspiration and narrows slightly during expiration; these processes are exaggerated in tracheomalacia, leading to airway collapse on expiration; the usual symptom of tracheomalacia is expiratory stridor or laryngeal crow MPheno.ontology MP:0013753 tracheomalacia MP:0013753 a condition characterized by flaccidity of the tracheal support cartilage which leads to tracheal collapse especially when increased airflow is demanded; the trachea normally dilates slightly during inspiration and narrows slightly during expiration; these processes are exaggerated in tracheomalacia, leading to airway collapse on expiration; the usual symptom of tracheomalacia is expiratory stridor or laryngeal crow ISBN:0-683-40008-8 http://en.wikipedia.org/wiki/Tracheomalacia https://orcid.org/0000-0002-6490-7723 any structural anomaly of the integrated unit (of the eye) that consists of the conjunctiva, the corneal surface, and the ocular mucosal adnexa including the lid margins and the meibomian gland openings, the lacrimal glands and the lacrimal drainage system, all which are critical to maintain ocular surface integrity and provide protection from external antigens and pathogenic microorganisms abnormal eye surface morphology abnormal eye surface region morphology abnormal ocular surface region morphology MPheno.ontology MP:0013754 abnormal ocular surface morphology MP:0013754 any structural anomaly of the integrated unit (of the eye) that consists of the conjunctiva, the corneal surface, and the ocular mucosal adnexa including the lid margins and the meibomian gland openings, the lacrimal glands and the lacrimal drainage system, all which are critical to maintain ocular surface integrity and provide protection from external antigens and pathogenic microorganisms ISBN:978-1-4665-6559-3 ISBN:978-3-318-01404-4 http://www.medscape.org/viewarticle/702141 any anomaly in the process in which phytosterols are taken up from the contents of the intestine; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol abnormal intestinal plant sterol absorption MPheno.ontology MP:0013755 abnormal intestinal phytosterol absorption MP:0013755 any anomaly in the process in which phytosterols are taken up from the contents of the intestine; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol GO:0060752 https://orcid.org/0000-0003-3691-0324 increased ability to take up phytosterols from the contents of the intestine; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol increased intestinal plant sterol absorption MPheno.ontology MP:0013756 increased intestinal phytosterol absorption MP:0013756 increased ability to take up phytosterols from the contents of the intestine; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol GO:0060752 https://orcid.org/0000-0003-3691-0324 reduced ability to take up phytosterols from the contents of the intestine; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol decreased intestinal plant sterol absorption reduced intestinal phytosterol absorption reduced intestinal plant sterol absorption MPheno.ontology MP:0013757 decreased intestinal phytosterol absorption MP:0013757 reduced ability to take up phytosterols from the contents of the intestine; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol GO:0060752 https://orcid.org/0000-0003-3691-0324 increased ability of the small intestine to absorb glucose into the bloodstream MPheno.ontology MP:0013758 increased intestinal glucose absorption MP:0013758 increased ability of the small intestine to absorb glucose into the bloodstream GO:0001951 https://orcid.org/0000-0003-3691-0324 reduced ability of the small intestine to absorb glucose into the bloodstream MPheno.ontology MP:0013759 decreased intestinal glucose absorption MP:0013759 reduced ability of the small intestine to absorb glucose into the bloodstream GO:0001951 https://orcid.org/0000-0003-3691-0324 any structural anomaly of an effector T cell that provides help in the form of secreted cytokines to other immune cells abnormal helper T cell morphology abnormal helper T lymphocyte morphology abnormal helper T-cell morphology abnormal helper T-lymphocyte morphology MPheno.ontology MP:0013760 abnormal T-helper cell morphology MP:0013760 any structural anomaly of an effector T cell that provides help in the form of secreted cytokines to other immune cells CL:0000912 anomaly in the number of an effector T cell that provides help in the form of secreted cytokines to other immune cells abnormal helper T cell number abnormal helper T lymphocyte number abnormal helper T-cell number abnormal helper T-lymphocyte number MPheno.ontology MP:0013761 abnormal T-helper cell number MP:0013761 anomaly in the number of an effector T cell that provides help in the form of secreted cytokines to other immune cells CL:0000912 anomaly in the number of differentiated T cells which have the ability to traffic to peripheral tissues and are capable of mounting a specific immune response MPheno.ontology MP:0013762 abnormal effector T cell number MP:0013762 anomaly in the number of differentiated T cells which have the ability to traffic to peripheral tissues and are capable of mounting a specific immune response CL:0000911 increase in the number of an effector T cell that provides help in the form of secreted cytokines to other immune cells increased helper T cell number increased helper T lymphocyte number increased helper T-cell number increased helper T-lymphocyte number MPheno.ontology MP:0013763 increased T-helper cell number MP:0013763 increase in the number of an effector T cell that provides help in the form of secreted cytokines to other immune cells CL:0000912 reduction in the number of an effector T cell that provides help in the form of secreted cytokines to other immune cells decreased helper T cell number decreased helper T lymphocyte number decreased helper T-cell number decreased helper T-lymphocyte number MPheno.ontology MP:0013764 decreased T-helper cell number MP:0013764 reduction in the number of an effector T cell that provides help in the form of secreted cytokines to other immune cells CL:0000912 increase in the number of normal cells in normal arrangement in the iris, typically resulting in increased size hyperplastic iris MPheno.ontology MP:0013765 iris hyperplasia MP:0013765 increase in the number of normal cells in normal arrangement in the iris, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 absence of the transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species absent impressiones rugales absent palatal ridge absent palatine fold absent palatine rugae absent plica palatina transversa absent plica palatinae transversae absent plicae palatinae transversae absent ruga of palate absent ruga palatina absent rugae of palate absent rugae palatinae absent transverse palatine fold absent transverse palatine folds set absent transverse palatine ridge MPheno.ontology MP:0013766 absent palatal rugae MP:0013766 absence of the transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species PMID:19087265 https://orcid.org/0000-0002-6490-7723 reduced number of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species decreased impressiones rugales number decreased palatal ridge number decreased palatine fold number decreased palatine rugae number decreased plica palatina transversa number decreased plica palatinae transversae number decreased plicae palatinae transversae number decreased ruga of palate number decreased ruga palatina number decreased rugae of palate number decreased rugae palatinae number decreased transverse palatine fold number decreased transverse palatine folds set decreased transverse palatine ridge number MPheno.ontology MP:0013767 decreased palatal rugae number MP:0013767 reduced number of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species PMID:19087265 https://orcid.org/0000-0002-6490-7723 reduction in the number of CD23-positive, CD21-positive B cells in the marginal zone of lymphoid tissues reduced marginal zone precursor B cell number MPheno.ontology MP:0013768 decreased marginal zone precursor B cell number MP:0013768 reduction in the number of CD23-positive, CD21-positive B cells in the marginal zone of lymphoid tissues https://orcid.org/0000-0002-6181-4695 increase in the number of CD23-positive, CD21-positive B cells in the marginal zone of lymphoid tissues MPheno.ontology MP:0013769 increased marginal zone precursor B cell number MP:0013769 increase in the number of CD23-positive, CD21-positive B cells in the marginal zone of lymphoid tissues https://orcid.org/0000-0002-6181-4695 anomaly in the number of CD4-positive alpha-beta T-helper cells with a CD44-positive, CD62L-negative memory phenotype MPheno.ontology MP:0013770 abnormal effector memory T-helper cell number MP:0013770 anomaly in the number of CD4-positive alpha-beta T-helper cells with a CD44-positive, CD62L-negative memory phenotype https://orcid.org/0000-0002-6181-4695 reduction in the number of CD4-positive alpha-beta T-helper cells with a CD44-positive, CD62L-negative memory phenotype reduced memory T-helper cell number MPheno.ontology MP:0013771 decreased effector memory T-helper cell number MP:0013771 reduction in the number of CD4-positive alpha-beta T-helper cells with a CD44-positive, CD62L-negative memory phenotype https://orcid.org/0000-0002-6181-4695 increase in the number of CD4-positive alpha-beta T-helper cells with a CD44-positive, CD62L-negative memory phenotype MPheno.ontology MP:0013772 increased effector memory T-helper cell number MP:0013772 increase in the number of CD4-positive alpha-beta T-helper cells with a CD44-positive, CD62L-negative memory phenotype https://orcid.org/0000-0002-6181-4695 anomaly in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation MPheno.ontology MP:0013773 abnormal KLRG1-positive T-helper cell number MP:0013773 anomaly in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation https://orcid.org/0000-0002-6181-4695 reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation reduced KLRG1-positive T-helper cell number MPheno.ontology MP:0013774 decreased KLRG1-positive T-helper cell number MP:0013774 reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation https://orcid.org/0000-0002-6181-4695 increase in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation MPheno.ontology MP:0013775 increased KLRG1-positive T-helper cell number MP:0013775 increase in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation https://orcid.org/0000-0002-6181-4695 inherited or acquired dysfunction of hematopoietic stem cells that can result in abnormalities in one or more of the stem cell lineages (erythroid, myeloid, megakaryocytic) MPheno.ontology MP:0013776 bone marrow failure MP:0013776 inherited or acquired dysfunction of hematopoietic stem cells that can result in abnormalities in one or more of the stem cell lineages (erythroid, myeloid, megakaryocytic) MGI:llw2 http://emedicine.medscape.com/article/199003-overview a lessening of symptoms or intensity of disease due to bone marrow failure that occurs without treatment and may be temporary or permanent MPheno.ontology MP:0013777 spontaneous remission from bone marrow failure MP:0013777 a lessening of symptoms or intensity of disease due to bone marrow failure that occurs without treatment and may be temporary or permanent MGI:llw2 any structural anomaly of the outer cell layer of the mammary gland epithelium bilayer which is located basal to the luminal (secretory) cells and adjacent to the basement membrane; basal cells (aka myoepithelial cells) are specialized epithelial cells that express smooth muscle-specific contractile and cytoskeletal properties; in lactating females, milk is produced by luminal cells, secreted into the alveolar lumen and collected in the ducts for expulsion out of the body through the nipple, due to the contractile activity of the basal myoepithelial cells abnormal mammary MEC morphology abnormal mammary epithelium basal cell layer morphology abnormal mammary epithelium basal cell morphology abnormal mammary myoepithelial cell morphology abnormal mammary myoepithelium morphology MPheno.ontology MP:0013778 abnormal mammary gland myoepithelium morphology MP:0013778 any structural anomaly of the outer cell layer of the mammary gland epithelium bilayer which is located basal to the luminal (secretory) cells and adjacent to the basement membrane; basal cells (aka myoepithelial cells) are specialized epithelial cells that express smooth muscle-specific contractile and cytoskeletal properties; in lactating females, milk is produced by luminal cells, secreted into the alveolar lumen and collected in the ducts for expulsion out of the body through the nipple, due to the contractile activity of the basal myoepithelial cells ISBN:8793237073 https://orcid.org/0000-0002-6490-7723 any functional anomaly of the outer cell layer of the mammary gland epithelium bilayer which is located basal to the luminal (secretory) cells and adjacent to the basement membrane; basal cells (aka myoepithelial cells or MECs) are specialized epithelial cells that express smooth muscle-specific contractile and cytoskeletal properties; during lactation, MECs contract in response to oxytocin to generate the contractile force required for milk ejection; MECs are involved in all developmental stages of mammary gland morphogenesis, modulating proliferation and differentiation of luminal cells; they take part in the formation of extracellular matrix, synthesizing its components and secreting proteinases and their inhibitors; in addition, MECs are regarded as natural cancer suppressors: they secrete suppressor proteins limiting cancer growth, invasiveness, and neoangiogenesis; MECs are markedly resistant to malignant transformation and they are able to suppress the transformation of neighboring luminal cells abnormal mammary MEC physiology abnormal mammary epithelium basal cell layer physiology abnormal mammary epithelium basal cell physiology abnormal mammary myoepithelial cell physiology abnormal mammary myoepithelium physiology MPheno.ontology MP:0013779 abnormal mammary gland myoepithelium physiology MP:0013779 any functional anomaly of the outer cell layer of the mammary gland epithelium bilayer which is located basal to the luminal (secretory) cells and adjacent to the basement membrane; basal cells (aka myoepithelial cells or MECs) are specialized epithelial cells that express smooth muscle-specific contractile and cytoskeletal properties; during lactation, MECs contract in response to oxytocin to generate the contractile force required for milk ejection; MECs are involved in all developmental stages of mammary gland morphogenesis, modulating proliferation and differentiation of luminal cells; they take part in the formation of extracellular matrix, synthesizing its components and secreting proteinases and their inhibitors; in addition, MECs are regarded as natural cancer suppressors: they secrete suppressor proteins limiting cancer growth, invasiveness, and neoangiogenesis; MECs are markedly resistant to malignant transformation and they are able to suppress the transformation of neighboring luminal cells ISBN:8793237073 PMID:20235044 reduced ability of the mammary myoepithelial cells to contract in response to oxytocin and generate the contractile force required for successful milk ejection and lactation decreased mammary epithelium basal cell contractility decreased mammary epithelium basal cell contraction decreased mammary myoepithelial cell contractility impaired mammary myoepithelial cell contraction reduced mammary epithelium basal cell contractility reduced mammary epithelium basal cell contraction reduced mammary myoepithelial cell contractility reduced mammary myoepithelial cell contraction MPheno.ontology MP:0013780 decreased mammary myoepithelial cell contraction MP:0013780 reduced ability of the mammary myoepithelial cells to contract in response to oxytocin and generate the contractile force required for successful milk ejection and lactation ISBN:8793237073 PMID:20235044 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective tissue; they are secretory epithelial cells characterized by the expression of the receptors for systemic hormones, i.e. estrogens, progesterone and prolactin MPheno.ontology MP:0013781 abnormal mammary gland luminal epithelium morphology MP:0013781 any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective tissue; they are secretory epithelial cells characterized by the expression of the receptors for systemic hormones, i.e. estrogens, progesterone and prolactin ISBN:8793237073 http://umr144.curie.fr/en/research-groups/molecular-mechanisms-mammary-gland-development-marina-glukhova/molecular-mechanisms- https://orcid.org/0000-0002-6490-7723 any structural anomaly of the unique club-shaped epithelial structure that develops at the tip of the mammary duct at the onset of puberty (approximately 3 weeks of age in mouse) under the action of circulating hormones; terminal end buds (TEBs) consist of an outer layer of undifferentiated myoepithelial progenitor cells (cap cells), and a multilayered inner core of luminal epithelial cells (body) fated to form the walls of the ductal lumen; both layers have high rates of mitosis, consistent with a motile organ dedicated to ductal morphogenesis; TEBs proliferate, ramify, and actively invade the fad pad to allow the formation of a complex branching structure; this process of branching morphogenesis concludes at about 10-12 weeks of age in mouse, when TEBs have traversed the length of the fat pad and a fully developed ductal tree has formed abnormal mammary duct TEB morphology MPheno.ontology MP:0013782 abnormal mammary duct terminal end bud morphology MP:0013782 any structural anomaly of the unique club-shaped epithelial structure that develops at the tip of the mammary duct at the onset of puberty (approximately 3 weeks of age in mouse) under the action of circulating hormones; terminal end buds (TEBs) consist of an outer layer of undifferentiated myoepithelial progenitor cells (cap cells), and a multilayered inner core of luminal epithelial cells (body) fated to form the walls of the ductal lumen; both layers have high rates of mitosis, consistent with a motile organ dedicated to ductal morphogenesis; TEBs proliferate, ramify, and actively invade the fad pad to allow the formation of a complex branching structure; this process of branching morphogenesis concludes at about 10-12 weeks of age in mouse, when TEBs have traversed the length of the fat pad and a fully developed ductal tree has formed PMID:16280048 PMID:16916375 PMID:18296651 https://orcid.org/0000-0002-6490-7723 failure to develop or maintain the unique club-shaped epithelial structure normally formed at the tip of the mammary duct at the onset of puberty (approximately 3 weeks of age in mouse) under the action of circulating hormones; normally, TEBs proliferate, ramify, and actively invade the fad pad to allow the formation of a complex branching structure; this process of branching morphogenesis concludes at about 10-12 weeks of age in mouse, when TEBs have traversed the length of the fat pad and a fully developed ductal tree has formed; absence of TEBs is often associated with reduced ductal outgrowth and impaired branching morphogenesis absent mammary duct TEB MPheno.ontology MP:0013783 absent mammary duct terminal end bud MP:0013783 failure to develop or maintain the unique club-shaped epithelial structure normally formed at the tip of the mammary duct at the onset of puberty (approximately 3 weeks of age in mouse) under the action of circulating hormones; normally, TEBs proliferate, ramify, and actively invade the fad pad to allow the formation of a complex branching structure; this process of branching morphogenesis concludes at about 10-12 weeks of age in mouse, when TEBs have traversed the length of the fat pad and a fully developed ductal tree has formed; absence of TEBs is often associated with reduced ductal outgrowth and impaired branching morphogenesis PMID:16280048 PMID:16916375 PMID:18296651 https://orcid.org/0000-0002-6490-7723 any anomaly in the process in which a mammary bud grows along its axis; in mouse embryos, the distal end of the mammary bud begins to elongate into the underlying dermal mesenchyme to form a mammary cord (sprout) by E15.5 MPheno.ontology MP:0013784 abnormal mammary gland bud elongation MP:0013784 any anomaly in the process in which a mammary bud grows along its axis; in mouse embryos, the distal end of the mammary bud begins to elongate into the underlying dermal mesenchyme to form a mammary cord (sprout) by E15.5 PMID:25467960 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is elevated above the surrounding ectoderm as a knob or dome; at E13.5, the buds sink into the underlying dermal mesenchyme, and by E14.5 they can no longer be detected externally; in female mouse embryos, five pairs of anlagen or buds are formed along the mammary line between E12.5 and E14.5 by proliferation of basal epidermal cells; while further mammary development is temporarily arrested in females, androgen receptor activation in male embryos causes degeneration of the buds between E13.5 and E15.5; in female mice, further development is resumed at around E15.5 when each bud elongates to form a mammary cord (sprout), invading the underlying fat pad precursor abnormal lactiferous gland bud morphology abnormal mammary bud morphology abnormal milk bud morphology MPheno.ontology MP:0013785 In male mouse embryos the bud separates from the epidermis by testosterone-dependent mechanisms between E14.5 and E15.5, and subsequently degenerates; male mice have no nipples and usually only four pairs of rudimentary glands consisting of branching ducts with no aveoli, primary ducts, or openings to the exterior. abnormal mammary gland bud morphology MP:0013785 any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is elevated above the surrounding ectoderm as a knob or dome; at E13.5, the buds sink into the underlying dermal mesenchyme, and by E14.5 they can no longer be detected externally; in female mouse embryos, five pairs of anlagen or buds are formed along the mammary line between E12.5 and E14.5 by proliferation of basal epidermal cells; while further mammary development is temporarily arrested in females, androgen receptor activation in male embryos causes degeneration of the buds between E13.5 and E15.5; in female mice, further development is resumed at around E15.5 when each bud elongates to form a mammary cord (sprout), invading the underlying fat pad precursor PMID:12558599 http://www.informatics.jax.org/greenbook/frames/frame13.shtml https://orcid.org/0000-0002-6490-7723 any anomaly in the morphogenetic process in which a distinct bulb of epithelial cells forms from a mammary placode abnormal lactiferous gland bud formation abnormal mammary bud formation abnormal milk bud formation MPheno.ontology MP:0013786 In mice, as the cells from the placode begin to invaginate into the underlying mesenchyme they pile up at the surface and begin to array themselves in a concentric orientation so that the early bud is elevated above the plane of the surrounding epidermis; as a result, at E12, the developing buds are visible as prominent knobs on the ventral surface of the embryo, which then submerge beneath the plane of the skin; the formation of the epithelial bud is accompanied by dramatic changes in the underlying mesenchyme; cells surrounding the epithelium elongate, condense, and orient their long axis in a radial fashion around the developing epithelial cells; at the end of this process, the mature bud consists of a sphere of concentrically arrayed epithelial cells connected to the skin surface by a stalk of epidermal-like cells; both ball and stalk are, in turn, surrounded by three to five layers of condensed mesenchyme, referred to as the primary mammary mesenchyme; in female mice the mammary buds remain relatively quiescent from E14 to E16, when ductal morphogenesis commences; in male mice, the mesenchyme around the stalk enlarges and condenses further, eventually severing the connection to the skin; this is followed by apoptosis of the mammary mesenchyme and many cells within the epithelial bud as well; consequently, male mice have either no mammary epithelial ducts or only very rudimentary ones. abnormal mammary gland bud formation MP:0013786 any anomaly in the morphogenetic process in which a distinct bulb of epithelial cells forms from a mammary placode PMID:20484386 https://orcid.org/0000-0002-6490-7723 abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the eyes due to light exposure or by presence of actual physical sensitivity of the eyes avoidance of light light-aversive behavior light-aversive behaviour MPheno.ontology MP:0013787 photophobia MP:0013787 abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the eyes due to light exposure or by presence of actual physical sensitivity of the eyes http://en.wikipedia.org/wiki/Photophobia https://orcid.org/0000-0002-6490-7723 congenital blockage, fusion, or absence of the normal anterior openings to the nasal cavity; the naris may be closed by membrane, cartilage or, rarely, bone anterior nares atresia nostril atresia MPheno.ontology MP:0013788 external nares atresia MP:0013788 congenital blockage, fusion, or absence of the normal anterior openings to the nasal cavity; the naris may be closed by membrane, cartilage or, rarely, bone https://orcid.org/0000-0002-6490-7723 decreased size of the anterior openings to the nasal cavity small anterior nares small nostrils MPheno.ontology MP:0013789 small external nares MP:0013789 decreased size of the anterior openings to the nasal cavity https://orcid.org/0000-0002-6490-7723 presence of only one anterior opening to the nasal cavity as opposed to the normal two; usually associated with midline facial defects arising from cleavage anomalies mono nostril single anterior naris single nostril MPheno.ontology MP:0013790 single external naris MP:0013790 presence of only one anterior opening to the nasal cavity as opposed to the normal two; usually associated with midline facial defects arising from cleavage anomalies https://orcid.org/0000-0002-6490-7723 absence or failure to form both of the anterior openings to the nasal cavity absent anterior nares absent nostrils MPheno.ontology MP:0013791 absent external nares MP:0013791 absence or failure to form both of the anterior openings to the nasal cavity https://orcid.org/0000-0002-6490-7723 any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus abnormal goblet cell of epithelium of small intestine morphology abnormal goblet cell of small intestine morphology abnormal small intestinal goblet cell morphology MPheno.ontology MP:0013792 abnormal small intestine goblet cell morphology MP:0013792 any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus PMID:25872481 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the large intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus abnormal goblet cell of epithelium of large intestine morphology abnormal large intestinal goblet cell morphology MPheno.ontology MP:0013793 abnormal large intestine goblet cell morphology MP:0013793 any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the large intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus PMID:25872481 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the villi of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus MPheno.ontology MP:0013794 abnormal intestinal villus goblet cell morphology MP:0013794 any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the villi of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus PMID:25872481 any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the colon, whose primary function is to secrete gel-forming mucins, the major components of mucus abnormal colonic goblet cell morphology MPheno.ontology MP:0013795 abnormal colon goblet cell morphology MP:0013795 any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the colon, whose primary function is to secrete gel-forming mucins, the major components of mucus PMID:25872481 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the duodenum of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus abnormal duodenum goblet cell morphology MPheno.ontology MP:0013796 abnormal duodenal goblet cell morphology MP:0013796 any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the duodenum of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus PMID:25872481 any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the ileum of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus abnormal ileum goblet cell morphology MPheno.ontology MP:0013797 abnormal ileal goblet cell morphology MP:0013797 any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the ileum of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus PMID:25872481 any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the jejunum of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus abnormal jejunum goblet cell morphology MPheno.ontology MP:0013798 abnormal jejunal goblet cell morphology MP:0013798 any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the jejunum of the small intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus PMID:25872481 any functional anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the small and large intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus; intestinal goblet cells produce a number of effector molecules including a range of mucins and antimicrobial proteins, such as trefoil factors and resistin-like molecules, which enable these to play a key part in innate defense mechanisms in the gut, against both bacterial and parasitic infections MPheno.ontology MP:0013799 abnormal intestinal goblet cell physiology MP:0013799 any functional anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the small and large intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus; intestinal goblet cells produce a number of effector molecules including a range of mucins and antimicrobial proteins, such as trefoil factors and resistin-like molecules, which enable these to play a key part in innate defense mechanisms in the gut, against both bacterial and parasitic infections PMID:25872481 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the encapsulated adipose tissue surrounding the cardiac tissue MPheno.ontology MP:0013800 abnormal pericardial fat pad morphology MP:0013800 any structural anomaly of the encapsulated adipose tissue surrounding the cardiac tissue https://orcid.org/0000-0001-6624-9261 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the encapsulated adipose tissue located beneath the scapulae MPheno.ontology MP:0013801 abnormal subscapular fat pad morphology MP:0013801 any structural anomaly of the encapsulated adipose tissue located beneath the scapulae MPD:Bogue https://orcid.org/0000-0003-3691-0324 deviation from the normal levels of the total immunoglobulin class G2 level MPheno.ontology MP:0013802 abnormal IgG2 level MP:0013802 deviation from the normal levels of the total immunoglobulin class G2 level https://orcid.org/0000-0003-4890-4685 greater than normal immunoglobulin class G2 level MPheno.ontology MP:0013803 increased IgG2 level MP:0013803 greater than normal immunoglobulin class G2 level https://orcid.org/0000-0003-4890-4685 less than normal immunoglobulin class G2 level MPheno.ontology MP:0013804 decreased IgG2 level MP:0013804 less than normal immunoglobulin class G2 level https://orcid.org/0000-0003-4890-4685 a progressive disease of the bone marrow where neoplastic bone marrow stem cells lodge and grow at sites outside the bone marrow, and the marrow is replaced by fibrous (scar) tissue; may lead to anemia, enlarged spleen, the presence of nucleated red blood cells and immature granulocytes in the blood, and the occurrence of extramedullary hematopoiesis in the spleen and liver MPheno.ontology MP:0013805 myeloid metaplasia MP:0013805 a progressive disease of the bone marrow where neoplastic bone marrow stem cells lodge and grow at sites outside the bone marrow, and the marrow is replaced by fibrous (scar) tissue; may lead to anemia, enlarged spleen, the presence of nucleated red blood cells and immature granulocytes in the blood, and the occurrence of extramedullary hematopoiesis in the spleen and liver ISBN:0781727286 any diffuse disorder of the brain that alters brain function or structure MPheno.ontology MP:0013806 encephalopathy MP:0013806 any diffuse disorder of the brain that alters brain function or structure HP:0001298 HPO:probinson generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body generalized oedema generalized tissue edema generalized tissue oedema MPheno.ontology MP:0013807 generalized edema MP:0013807 generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body HP:0007430 HPO:curators any structrual anomaly of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti MPheno.ontology MP:0013808 abnormal tunnel of Corti morphology MP:0013808 any structrual anomaly of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti https://orcid.org/0000-0002-6490-7723 absence of the prominent ridges of atrial myocardium located on the inner surface of most of the right atrium and both the right and left auricular regions absent pectinate fibers absent pectinate muscles MPheno.ontology MP:0013809 absent pectinate muscle MP:0013809 absence of the prominent ridges of atrial myocardium located on the inner surface of most of the right atrium and both the right and left auricular regions ISBN:0-683-40008-8 absence of the short first aortic arch branch which divides into the right subclavian artery and the right common carotid artery absent brachiocephalic artery absent innominate artery MPheno.ontology MP:0013810 absent brachiocephalic trunk MP:0013810 absence of the short first aortic arch branch which divides into the right subclavian artery and the right common carotid artery https://orcid.org/0000-0003-3691-0324 any structural anomaly of the highly complex and variable set of veins that drain blood from the eye and supporting tissue, including the superior and inferior ophthalmic veins, the middle and medial ophthalmic veins, four collateral veins), variable orbital venous networks, and variable venous tributaries abnormal orbital veins morphology MPheno.ontology MP:0013811 abnormal orbital vein morphology MP:0013811 any structural anomaly of the highly complex and variable set of veins that drain blood from the eye and supporting tissue, including the superior and inferior ophthalmic veins, the middle and medial ophthalmic veins, four collateral veins), variable orbital venous networks, and variable venous tributaries PMID:17019411 increased size of the highly complex and variable set of veins that drain blood from the eye and supporting tissue, including the superior and inferior ophthalmic veins, the middle and medial ophthalmic veins, four collateral veins), variable orbital venous networks, and variable venous tributaries enlarged orbit veins increased orbit veins size increased orbital veins size MPheno.ontology MP:0013812 enlarged orbital veins MP:0013812 increased size of the highly complex and variable set of veins that drain blood from the eye and supporting tissue, including the superior and inferior ophthalmic veins, the middle and medial ophthalmic veins, four collateral veins), variable orbital venous networks, and variable venous tributaries PMID:17019411 an expansion in the lumen volume of the wide short vein formed from the confluence of the superior mesenteric, inferior mesenteric and splenic veins, which then divides into the right and left branches which ramify with the liver HPV dilation dilated HPV dilated hepatic portal veins dilated portal vein dilated portal veins hepatic portal vein dilation portal vein dilation MPheno.ontology MP:0013813 dilated hepatic portal vein MP:0013813 an expansion in the lumen volume of the wide short vein formed from the confluence of the superior mesenteric, inferior mesenteric and splenic veins, which then divides into the right and left branches which ramify with the liver ISBN:0-683-40008-8 any anomaly of the connection site of the right or left branch of the hepatic portal vein to the liver abnormal portal vein attachment MPheno.ontology MP:0013814 abnormal hepatic portal vein connection MP:0013814 any anomaly of the connection site of the right or left branch of the hepatic portal vein to the liver ISBN:0-683-40008-8 any structural anomaly of the small suprahyoid muscle located below the body of the mandible, and extending, in a curved form, from the mastoid notch to the symphysis menti; it consists of two muscular bellies, an anterior and a posterior belly, united by an intermediate rounded tendon attaching to the hyoid bone through a fibrous loop; the two bellies have different embryological origins and are supplied by different cranial nerves abnormal digastricus morphology MPheno.ontology MP:0013815 abnormal digastric muscle morphology MP:0013815 any structural anomaly of the small suprahyoid muscle located below the body of the mandible, and extending, in a curved form, from the mastoid notch to the symphysis menti; it consists of two muscular bellies, an anterior and a posterior belly, united by an intermediate rounded tendon attaching to the hyoid bone through a fibrous loop; the two bellies have different embryological origins and are supplied by different cranial nerves https://en.wikipedia.org/wiki/Digastric_muscle https://orcid.org/0000-0002-6490-7723 absence of the small suprahyoid muscle located below the body of the mandible, and extending, in a curved form, from the mastoid notch to the symphysis menti; it consists of an anterior and a posterior belly, united by an intermediate rounded tendon attaching to the hyoid bone through a fibrous loop absent digastricus muscle MPheno.ontology MP:0013816 absent digastric muscle MP:0013816 absence of the small suprahyoid muscle located below the body of the mandible, and extending, in a curved form, from the mastoid notch to the symphysis menti; it consists of an anterior and a posterior belly, united by an intermediate rounded tendon attaching to the hyoid bone through a fibrous loop https://orcid.org/0000-0002-6490-7723 absence of the cavity of the respiratory tract that extends from the nares to the pharynx; the nasal cavity is lined with ciliated mucosa absent cavity of nose absent cavity of olfactory apparatus absent nasal canal absent nasal conduit space absent nasal fossa absent olfactory chamber cavity MPheno.ontology MP:0013817 absent nasal cavity MP:0013817 absence of the cavity of the respiratory tract that extends from the nares to the pharynx; the nasal cavity is lined with ciliated mucosa MESH:A04.531.449 any structural anomaly of the anatomical cavity at the start of the digestive tract that is enclosed by the mouth abnormal buccal cavity morphology abnormal cavity of mouth morphology MPheno.ontology MP:0013818 abnormal oral cavity morphology MP:0013818 any structural anomaly of the anatomical cavity at the start of the digestive tract that is enclosed by the mouth UBERON:0000167 any structural anomaly of any joint connecting the acromonion of the scapula and clavicle MPheno.ontology MP:0013819 abnormal acromioclavicular joint morphology MP:0013819 any structural anomaly of any joint connecting the acromonion of the scapula and clavicle UBERON:0003692 absence of the double walled structure formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and neuronal layers of the retina, with the mouth of the optic cup developing into the pupil of the eye absent eye cup absent eyecup absent ocular cup absent ophtalmic cup MPheno.ontology MP:0013820 absent optic cup MP:0013820 absence of the double walled structure formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and neuronal layers of the retina, with the mouth of the optic cup developing into the pupil of the eye https://orcid.org/0000-0003-4606-0597 any structural anomaly of any of three main pairs of arteries and their branches, which irrigate the cerebrum of the brain MPheno.ontology MP:0013821 abnormal cerebral artery morphology MP:0013821 any structural anomaly of any of three main pairs of arteries and their branches, which irrigate the cerebrum of the brain UBERON:0004449 any structural anomaly of a pair of arteries on the brain that supply oxygen to most medial portions of frontal lobes and superior medial parietal lobes; the anterior cerebral arteries arise from the internal carotid artery and are part of the Circle of Willis abnormal cerebral anterior artery morphology MPheno.ontology MP:0013822 abnormal anterior cerebral artery morphology MP:0013822 any structural anomaly of a pair of arteries on the brain that supply oxygen to most medial portions of frontal lobes and superior medial parietal lobes; the anterior cerebral arteries arise from the internal carotid artery and are part of the Circle of Willis UBERON:0001624 absence of a portion of a pair of arteries on the brain that supply oxygen to most medial portions of frontal lobes and superior medial parietal lobes MPheno.ontology MP:0013823 absent segment of anterior cerebral artery MP:0013823 absence of a portion of a pair of arteries on the brain that supply oxygen to most medial portions of frontal lobes and superior medial parietal lobes UBERON:0001624 https://orcid.org/0000-0003-3691-0324 any structural anomaly of the bony canal in the occipital bone through which the hypoglossal nerve emerges from the skull abnormal anterior condylar canal morphology abnormal anterior condyloid canal of occipital bone morphology abnormal anterior condyloid foramen morphology MPheno.ontology MP:0013824 abnormal hypoglossal canal morphology MP:0013824 any structural anomaly of the bony canal in the occipital bone through which the hypoglossal nerve emerges from the skull ISBN:0683400088 reduced size of the bony canal in the occipital bone through which the hypoglossal nerve emerges from the skull decreased hypoglossal canal size reduced hypoglossal canal size small anterior condylar canal small anterior condyloid foramen MPheno.ontology MP:0013825 small hypoglossal canal MP:0013825 reduced size of the bony canal in the occipital bone through which the hypoglossal nerve emerges from the skull ISBN:0683400088 absence of the bony canal in the occipital bone through which the hypoglossal nerve emerges from the skull absence of hypoglossal canal absent anterior condylar canal absent anterior condyloid foramen MPheno.ontology MP:0013826 absent hypoglossal canal MP:0013826 absence of the bony canal in the occipital bone through which the hypoglossal nerve emerges from the skull ISBN:0683400088 slender appearance of the third cranial nerve, which normally sends motor fibers to the levator muscles of the eyelid and to the superior rectus, inferior rectus, and inferior oblique muscles of the eye thin CN-III MPheno.ontology MP:0013827 thin oculomotor nerve MP:0013827 slender appearance of the third cranial nerve, which normally sends motor fibers to the levator muscles of the eyelid and to the superior rectus, inferior rectus, and inferior oblique muscles of the eye ISBN:0-683-40008-8 a slender apperance of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue thin CN-VII MPheno.ontology MP:0013828 thin facial nerve MP:0013828 a slender apperance of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue ISBN:0-683-40008-8 slender appearance of the major nerves supplying sympathetic innervation to the abdomen, including the greater, lesser, and lowest (or smallest) splanchnic nerves that are formed by preganglionic fibers from the spinal cord, which pass through the paravertebral ganglia and then to the celiac ganglia and plexuses, and the lumbar splanchnic nerves carry fibers which pass through the lumbar paravertebral ganglia to the mesenteric and hypogastric ganglia MPheno.ontology MP:0013829 thin splanchnic nerve MP:0013829 slender appearance of the major nerves supplying sympathetic innervation to the abdomen, including the greater, lesser, and lowest (or smallest) splanchnic nerves that are formed by preganglionic fibers from the spinal cord, which pass through the paravertebral ganglia and then to the celiac ganglia and plexuses, and the lumbar splanchnic nerves carry fibers which pass through the lumbar paravertebral ganglia to the mesenteric and hypogastric ganglia MESH:A08.800.050.050.800 abnormal position of the vagus nerve in the intrathoracic region abnormal intrathoracic position of vagus nerve MPheno.ontology MP:0013830 abnormal intrathoracic topology of vagus nerve MP:0013830 abnormal position of the vagus nerve in the intrathoracic region https://orcid.org/0000-0003-3691-0324 a flattened or pressed appearance of the vagus nerve as if by applied pressure CN-X compression compressed CN-X vagal nerve compression MPheno.ontology MP:0013831 vagus nerve compression MP:0013831 a flattened or pressed appearance of the vagus nerve as if by applied pressure https://orcid.org/0000-0003-3691-0324 slender appearance of the autonomic, sensory and motor axons of the tenth cranial nerve thin CN-X thin vagal nerve MPheno.ontology MP:0013832 thin vagus nerve MP:0013832 slender appearance of the autonomic, sensory and motor axons of the tenth cranial nerve ISBN:0838580343 absence of the first cranial nerve, which conveys the sense of smell absent CN-I MPheno.ontology MP:0013833 absent olfactory nerve MP:0013833 absence of the first cranial nerve, which conveys the sense of smell MESH:A08.800.800.120.640 slender appearance of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue thin CN-XII MPheno.ontology MP:0013834 thin hypoglossal nerve MP:0013834 slender appearance of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue ISBN:0-683-40008-8 absence of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue absent CN-XII MPheno.ontology MP:0013835 absent hypoglossal nerve MP:0013835 absence of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue ISBN:0-683-40008-8 abnormal position of the hypoglossal nerve abnormal CN-XII position abnormal hypoglossal nerve position MPheno.ontology MP:0013836 abnormal hypoglossal nerve topology MP:0013836 abnormal position of the hypoglossal nerve https://orcid.org/0000-0003-3691-0324 abnormal position of the vagus nerve abnormal CN-X topology abnormal vagal nerve position abnormal vagus nerve position MPheno.ontology MP:0013837 abnormal vagus nerve topology MP:0013837 abnormal position of the vagus nerve https://orcid.org/0000-0003-3691-0324 decreased size of one or both C-shaped structures that border the lateral ventricle and contain input neurons involved with control of voluntary movement in the brain decreased caudate nucelus size reduced caudate nucelus size MPheno.ontology MP:0013838 small caudate nucleus MP:0013838 decreased size of one or both C-shaped structures that border the lateral ventricle and contain input neurons involved with control of voluntary movement in the brain ISBN:0-683-40008-8 ISBN:0838580343 any structural anomaly of one of a pair of blood vessels that supplies oxygenated blood to the posterior aspect of the brain; it arises near the intersection of the posterior communicating artery and the basilar artery and connects with the ipsilateral middle cerebral artery (MCA) and internal carotid artery via the posterior communicating artery MPheno.ontology MP:0013839 abnormal posterior cerebral artery morphology MP:0013839 any structural anomaly of one of a pair of blood vessels that supplies oxygenated blood to the posterior aspect of the brain; it arises near the intersection of the posterior communicating artery and the basilar artery and connects with the ipsilateral middle cerebral artery (MCA) and internal carotid artery via the posterior communicating artery UBERON:0001636 absence of a portion of one of a pair of blood vessels that supplies oxygenated blood to the posterior aspect of the brain absent posterior cerebral artery segment MPheno.ontology MP:0013840 absent segment of posterior cerebral artery MP:0013840 absence of a portion of one of a pair of blood vessels that supplies oxygenated blood to the posterior aspect of the brain UBERON:0001636 abnormal position of any component of the network of vessels that carries lymph around the body abnormal lymph vessel position abnormal lymph vessel topology abnormal lymphatic vessel position abnormal topology of lymph vessels MPheno.ontology MP:0013841 abnormal lymphatic vessel topology MP:0013841 abnormal position of any component of the network of vessels that carries lymph around the body https://orcid.org/0000-0003-3691-0324 abnormal narrowing or constriction of the lumen of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein that allows oxygenated blood to bypass the developing liver during the time when this connection is normally open; this normally closes during develpment to adulthood narrowing of ductus venosus MPheno.ontology MP:0013842 ductus venosus stenosis MP:0013842 abnormal narrowing or constriction of the lumen of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein that allows oxygenated blood to bypass the developing liver during the time when this connection is normally open; this normally closes during develpment to adulthood https://orcid.org/0000-0003-3691-0324 abnormal narrowing or constriction of the lumen of the hepatic portal vein narrowing of portal vein portal vein stenosis MPheno.ontology MP:0013843 hepatic portal vein stenosis MP:0013843 abnormal narrowing or constriction of the lumen of the hepatic portal vein ISBN:0-683-40008-8 formation of bone in the perichondrium, which is normally cartilaginous abnormal perichondrium ossification MPheno.ontology MP:0013844 abnormal perichondrial ossification MP:0013844 formation of bone in the perichondrium, which is normally cartilaginous https://orcid.org/0000-0003-3691-0324 abnormal position of eye muscles abnormal eye muscle position MPheno.ontology MP:0013845 abnormal eye muscle topology MP:0013845 abnormal position of eye muscles https://orcid.org/0000-0003-3691-0324 accumulation of watery or serous fluid in the retropharyngeal space retropharyngeal oedema MPheno.ontology MP:0013846 retropharyngeal edema MP:0013846 accumulation of watery or serous fluid in the retropharyngeal space https://orcid.org/0000-0003-3691-0324 accumulation of watery or serous fluid in the retropleural space retropleural oedema MPheno.ontology MP:0013847 retropleural edema MP:0013847 accumulation of watery or serous fluid in the retropleural space https://orcid.org/0000-0003-3691-0324 accumulation of watery or serous fluid in the subcutaneous region below the skin subcutaneous oedema MPheno.ontology MP:0013848 subcutaneous edema MP:0013848 accumulation of watery or serous fluid in the subcutaneous region below the skin https://orcid.org/0000-0003-3691-0324 absence of the sixth cranial nerve, which originates in the abducens nucleus of the pons and sends motor fibers to the lateral rectus muscles of the eye absent CN-VI MPheno.ontology MP:0013849 absent abducens nerve MP:0013849 absence of the sixth cranial nerve, which originates in the abducens nucleus of the pons and sends motor fibers to the lateral rectus muscles of the eye MESH:A08.800.800.120.030 absence of the band of nerve fiber tracts that span the longitudinal fissure beneath the habenula of the pineal body and over the cerebral aqueduct, interconnecting the left and right pretectal regions and some midbrain nuclei absent epithalamic commissure MPheno.ontology MP:0013850 absent posterior commissure MP:0013850 absence of the band of nerve fiber tracts that span the longitudinal fissure beneath the habenula of the pineal body and over the cerebral aqueduct, interconnecting the left and right pretectal regions and some midbrain nuclei ISBN:0-683-40008-8 aberrant postition of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male abnormal Gartner's duct topology abnormal Leydig's duct topology abnormal Wollfian duct position abnormal mesonephric duct position MPheno.ontology MP:0013851 abnormal Wolffian duct topology MP:0013851 aberrant postition of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male ISBN:0-683-40008-8 aberrant position of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina abnormal paramesonephric duct topology MPheno.ontology MP:0013852 abnormal Mullerian duct topology MP:0013852 aberrant position of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina ISBN:0-683-40008-8 aberrant formation of the wide short vein formed from the confluence of the superior mesenteric, inferior mesenteric and splenic veins, and then divides into the right and left branches which ramify with the liver abnormal HPV formation abnormal PV formation abnormal portal vein formation MPheno.ontology MP:0013853 abnormal hepatic portal vein formation MP:0013853 aberrant formation of the wide short vein formed from the confluence of the superior mesenteric, inferior mesenteric and splenic veins, and then divides into the right and left branches which ramify with the liver ISBN:0-683-40008-8 any structural anomaly of the short, thick trunk which arises from the front of the abdominal aorta immediately below the aortic opening in the diaphragm; it lies below the liver and on the upper border of the pancreas and branches into the left gastric, hepatic, and splenic arteries abnormal Haller's tripus morphology abnormal celiac trunk morphology abnormal coeliac artery morphology abnormal coeliac trunk morphology abnormal coeliaco-mesenteric trunk morphology abnormal truncus coeliacus morphology MPheno.ontology MP:0013854 abnormal celiac artery morphology MP:0013854 any structural anomaly of the short, thick trunk which arises from the front of the abdominal aorta immediately below the aortic opening in the diaphragm; it lies below the liver and on the upper border of the pancreas and branches into the left gastric, hepatic, and splenic arteries ISBN:0-683-40008-8 absence of the short, thick trunk which arises from the front of the abdominal aorta immediately below the aortic opening in the diaphragm absent Haller's tripus absent celiac trunk absent coeliac artery absent coeliac trunk absent coeliaco-mesenteric trunk MPheno.ontology MP:0013855 absent celiac artery MP:0013855 absence of the short, thick trunk which arises from the front of the abdominal aorta immediately below the aortic opening in the diaphragm ISBN:0-683-40008-8 increased pressure exerted on the celiac artery by the median arcuate ligament of the diaphragm celiac trunk compression coeliac artery compression coeliac trunk compression coeliaco-mesenteric trunk compression truncus coeliacus compression MPheno.ontology MP:0013856 celiac artery compression MP:0013856 increased pressure exerted on the celiac artery by the median arcuate ligament of the diaphragm ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 any structural anomaly of a muscle that is part of the abdomen MPheno.ontology MP:0013857 abnormal abdominal muscle morphology MP:0013857 any structural anomaly of a muscle that is part of the abdomen https://orcid.org/0000-0003-3691-0324 abnormal position(s) of the unpaired vein which in humans arises from the right ascending lumbar vein or the vena cava, enters the thorax through the aortic orifice in the diaphragm, and terminates in the superior vena cava; unlike humans, mice have a single and left-sided azygos vein that develops from the paired embryonic cardinal venous system and drains most of the right and left thoracic walls into the left anterior vena cava abnormal vena azygos topology MPheno.ontology MP:0013858 abnormal azygos vein topology MP:0013858 abnormal position(s) of the unpaired vein which in humans arises from the right ascending lumbar vein or the vena cava, enters the thorax through the aortic orifice in the diaphragm, and terminates in the superior vena cava; unlike humans, mice have a single and left-sided azygos vein that develops from the paired embryonic cardinal venous system and drains most of the right and left thoracic walls into the left anterior vena cava https://orcid.org/0000-0002-6490-7723 aberrant or missing attachment of the paired veins that carry blood from the yolk sac back to the embryo abnormal connection of vitelline vein MPheno.ontology MP:0013859 abnormal vitelline vein connection MP:0013859 aberrant or missing attachment of the paired veins that carry blood from the yolk sac back to the embryo ISBN:0-683-40008-8 https://orcid.org/0000-0003-3691-0324 abnormal communication between the common carotid and the vertebral artery by means of collateral channels, often occurring when the common carotid or the vertebral artery are obstructed MPheno.ontology MP:0013860 anastomosis between common carotid and vertebral artery MP:0013860 abnormal communication between the common carotid and the vertebral artery by means of collateral channels, often occurring when the common carotid or the vertebral artery are obstructed ISBN:0-683-40008-8 abnormal postion of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream MPheno.ontology MP:0013861 abnormal pancreas topology MP:0013861 abnormal postion of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream ISBN:0-683-40008-8 abnormal placement of the large sac normally located at the ileum and large intestine junction abnormal caecum position abnormal position of caecum MPheno.ontology MP:0013862 abnormal cecum position MP:0013862 abnormal placement of the large sac normally located at the ileum and large intestine junction ISBN:0-683-40008-8 any structural anomaly of one or more of small superficial veins that run from the umbilicus along the round ligament of the liver and terminate as accessory portal veins in the liver; these are susceptible to varicosity during portal hypertension abnormal venae paraumbilicales morphology MPheno.ontology MP:0013863 abnormal paraumbilical vein morphology MP:0013863 any structural anomaly of one or more of small superficial veins that run from the umbilicus along the round ligament of the liver and terminate as accessory portal veins in the liver; these are susceptible to varicosity during portal hypertension ISBN:0-683-40008-8 PMID:7400038 increased size of one or more of small superficial veins that run from the umbilicus along the round ligament of the liver and terminate as accessory portal veins in the liver enlarged venae paraumbilicales increased paraumbilical vein size MPheno.ontology MP:0013864 enlarged paraumbilical vein MP:0013864 increased size of one or more of small superficial veins that run from the umbilicus along the round ligament of the liver and terminate as accessory portal veins in the liver ISBN:0-683-40008-8 PMID:7400038 aberrant location or orientation of the transient embryonic structure that fuses with the ventral pancreas during development to form a single organ abnormal dorsal pancreatic bud topology MPheno.ontology MP:0013865 abnormal dorsal pancreas topology MP:0013865 aberrant location or orientation of the transient embryonic structure that fuses with the ventral pancreas during development to form a single organ PMID:23909279 any structural anomaly of the transient embryonic structure that fuses with the ventral pancreas during development to form a single organ; the dorsal pancreatic bud gives rise to the body, tail, and isthmus of the pancreas abnormal dorsal pancreatic anlagen morphology abnormal dorsal pancreatic bud morphology MPheno.ontology MP:0013866 abnormal dorsal pancreas morphology MP:0013866 any structural anomaly of the transient embryonic structure that fuses with the ventral pancreas during development to form a single organ; the dorsal pancreatic bud gives rise to the body, tail, and isthmus of the pancreas PMID:23909279 any structural anomaly of the transient embryonic structure that fuses with the dorsal pancreas during development to form a single organ; the ventral pancreatic bud gives rise to the pancreatic head and uncinate process abnormal ventral pancreatic anlage morphology abnormal ventral pancreatic bud morphology MPheno.ontology MP:0013867 abnormal ventral pancreas morphology MP:0013867 any structural anomaly of the transient embryonic structure that fuses with the dorsal pancreas during development to form a single organ; the ventral pancreatic bud gives rise to the pancreatic head and uncinate process PMID:23909279 abnormal location or orientation of the transient embryonic structure that fuses with the dorsal pancreas during development to form a single organ abnormal ventral pancreatic bud topology MPheno.ontology MP:0013868 abnormal ventral pancreas topology MP:0013868 abnormal location or orientation of the transient embryonic structure that fuses with the dorsal pancreas during development to form a single organ PMID:23909279 a pouch or sac opening from the lumen of a vessel MPheno.ontology MP:0013869 vascular diverticulum MP:0013869 a pouch or sac opening from the lumen of a vessel https://orcid.org/0000-0003-3691-0324 MPheno.ontology MP:0013870 absent proximal internal carotid artery segment MP:0013870 abnormal location or orientation of the small artery that passes through the ring of the stapes; while the stapedial artery is a temporary artery thought to disappear at late embryonic stage in humans, the mouse stapedial artery is complete by E13 and persists into adulthood MPheno.ontology MP:0013871 abnormal stapedial artery topology MP:0013871 abnormal location or orientation of the small artery that passes through the ring of the stapes; while the stapedial artery is a temporary artery thought to disappear at late embryonic stage in humans, the mouse stapedial artery is complete by E13 and persists into adulthood https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the veins that bring deoxygenated blood from the head back to the heart via the superior vena cava MPheno.ontology MP:0013872 abnormal jugular vein morphology MP:0013872 any structural anomaly of any of the veins that bring deoxygenated blood from the head back to the heart via the superior vena cava ISBN:0-683-40008-8 UBERON:0004711 any structural anomaly of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein that allows oxygenated blood to bypass the developing liver during the time when this connection is normally open; this normally closes during develpment to adulthood MPheno.ontology MP:0013873 abnormal ductus venosus morphology MP:0013873 any structural anomaly of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein that allows oxygenated blood to bypass the developing liver during the time when this connection is normally open; this normally closes during develpment to adulthood https://orcid.org/0000-0003-3691-0324 aberrant position or orientation of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein that allows oxygenated blood to bypass the developing liver during the time when this connection is normally open; this normally closes during develpment to adulthood abnormal ductus venosus position MPheno.ontology MP:0013874 abnormal ductus venosus topology MP:0013874 aberrant position or orientation of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein that allows oxygenated blood to bypass the developing liver during the time when this connection is normally open; this normally closes during develpment to adulthood https://orcid.org/0000-0003-3691-0324 greater than the expected number of a tumor derived from cells of the trigeminal nerve occurring in a specific population in a given time period; trigeminal neuromas are rare tumors that may involve any part of the nerve complex, including peripheral divisions of the nerve increased trigeminal nerve neuroma incidence MPheno.ontology trigeminal neuroma MP:0013875 increased trigeminal neuroma incidence MP:0013875 greater than the expected number of a tumor derived from cells of the trigeminal nerve occurring in a specific population in a given time period; trigeminal neuromas are rare tumors that may involve any part of the nerve complex, including peripheral divisions of the nerve https://doi.org/10.1097/00006123-199802000-00015 absence of the valve present on the right side of the ductus venosus at the site of the junction with the inferior vena cava absent valve of ductus venosus MPheno.ontology MP:0013876 This transient prenatal structure does not exist in humans. It is present in many other species including mouse, rat, cattle and sheep. absent ductus venosus valve MP:0013876 absence of the valve present on the right side of the ductus venosus at the site of the junction with the inferior vena cava PMID:5438957 any structural anomaly of the valve present on the right side of the ductus venosus at the site of the junction with the inferior vena cava abnormal morphology of valve of ductus venosus MPheno.ontology MP:0013877 This transient prenatal structure does not exist in humans. It is present in many other species including mouse, rat, cattle and sheep. abnormal ductus venosus valve morphology MP:0013877 any structural anomaly of the valve present on the right side of the ductus venosus at the site of the junction with the inferior vena cava PMID:5438957 abnormal position of the valve present on the right side of the ductus venosus at the site of the junction with the inferior vena cava abnormal topology of valve of ductus venosus MPheno.ontology MP:0013878 This transient prenatal structure does not exist in humans. It is present in many other species including mouse, rat, cattle and sheep. abnormal ductus venosus valve topology MP:0013878 abnormal position of the valve present on the right side of the ductus venosus at the site of the junction with the inferior vena cava PMID:5438957 duplication of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein that allows oxygenated blood to bypass the developing liver during the time when this connection is normally open; this normally closes during develpment to adulthood double ductus venosus MPheno.ontology MP:0013879 duplication of ductus venosus MP:0013879 duplication of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein that allows oxygenated blood to bypass the developing liver during the time when this connection is normally open; this normally closes during develpment to adulthood https://orcid.org/0000-0003-3691-0324 absence of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein that allows oxygenated blood to bypass the developing liver during the time when this connection is normally open; this normally closes during development to adulthood absence of ductus venosus MPheno.ontology MP:0013880 absent ductus venosus MP:0013880 absence of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein that allows oxygenated blood to bypass the developing liver during the time when this connection is normally open; this normally closes during development to adulthood https://orcid.org/0000-0003-3691-0324 anomaly in the number of CD4-positive NK T cells expressing the activation marker CD25 MPheno.ontology MP:0013881 abnormal CD4-positive, CD25-positive NK T cell number MP:0013881 anomaly in the number of CD4-positive NK T cells expressing the activation marker CD25 https://orcid.org/0000-0003-3662-4192 reduction in the number of CD4-positive NK T cells expressing the activation marker CD25 reduced CD4-positive, CD25-positive NK T cell number MPheno.ontology MP:0013882 decreased CD4-positive, CD25-positive NK T cell number MP:0013882 reduction in the number of CD4-positive NK T cells expressing the activation marker CD25 https://orcid.org/0000-0003-3662-4192 increase in the number of CD4-positive NK T cells expressing the activation marker CD25 MPheno.ontology MP:0013883 increased CD4-positive, CD25-positive NK T cell number MP:0013883 increase in the number of CD4-positive NK T cells expressing the activation marker CD25 https://orcid.org/0000-0003-3662-4192 anomaly in the number of CD4-negative NK T cells expressing the activation marker CD25 MPheno.ontology MP:0013884 abnormal CD4-negative, CD25-positive NK T cell number MP:0013884 anomaly in the number of CD4-negative NK T cells expressing the activation marker CD25 https://orcid.org/0000-0003-3662-4192 reduction in the number of CD4-negative NK T cells expressing the activation marker CD25 reduced CD4-negative, CD25-positive NK T cell number MPheno.ontology MP:0013885 decreased CD4-negative, CD25-positive NK T cell number MP:0013885 reduction in the number of CD4-negative NK T cells expressing the activation marker CD25 https://orcid.org/0000-0003-3662-4192 increase in the number of CD4-negative NK T cells expressing the activation marker CD25 MPheno.ontology MP:0013886 increased CD4-negative, CD25-positive NK T cell number MP:0013886 increase in the number of CD4-negative NK T cells expressing the activation marker CD25 https://orcid.org/0000-0003-3662-4192 anomaly in the distribution of subsets or occurrence of new subsets within the T cell compartment MPheno.ontology MP:0013887 abnormal T cell compartment MP:0013887 anomaly in the distribution of subsets or occurrence of new subsets within the T cell compartment https://orcid.org/0000-0003-3662-4192 anomaly in the number of CD8-positive alpha-beta T cells expressing the activation marker CD25 MPheno.ontology MP:0013888 abnormal CD8-positive, CD25-positive alpha-beta T cell number MP:0013888 anomaly in the number of CD8-positive alpha-beta T cells expressing the activation marker CD25 https://orcid.org/0000-0003-3662-4192 reduction in the number of CD8-positive alpha-beta T cells expressing the activation marker CD25 reduced CD8-positive, CD25-positive alpha-beta T cell number MPheno.ontology MP:0013889 decreased CD8-positive, CD25-positive alpha-beta T cell number MP:0013889 reduction in the number of CD8-positive alpha-beta T cells expressing the activation marker CD25 https://orcid.org/0000-0003-3662-4192 increase in the number of CD8-positive alpha-beta T cells expressing the activation marker CD25 MPheno.ontology MP:0013890 increased CD8-positive, CD25-positive alpha-beta T cell number MP:0013890 increase in the number of CD8-positive alpha-beta T cells expressing the activation marker CD25 https://orcid.org/0000-0003-3662-4192 increased number of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages increased cfu-gemm number MPheno.ontology increased CFU-S increased CMP cell number increased CMPs increased multipotential myeloid stem cell number increased myeloid stem cell number increased pluripotent stem cell (bone marrow) number MP:0013891 increased common myeloid progenitor cell number MP:0013891 increased number of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages MGI:llw2 increased number of a progenitor cell committed to the lymphoid lineage increased CLP number increased common lymphoid progenitor cell number MPheno.ontology MP:0013892 increased common lymphocyte progenitor cell number MP:0013892 increased number of a progenitor cell committed to the lymphoid lineage CL:0000051 PMID:10407577 reduced number of a progenitor cell committed to the lymphoid lineage decreased CLP number decreased common lymphoid progenitor cell number reduced CLP number reduced common lymphoid progenitor cell number MPheno.ontology MP:0013893 decreased common lymphocyte progenitor cell number MP:0013893 reduced number of a progenitor cell committed to the lymphoid lineage CL:0000051 PMID:10407577 anomaly in the behavioral response induced by amphetamine such as induced hyperactivity or stereotypic behavior abnormal behavioural response to amphetamine MPheno.ontology MP:0013894 abnormal behavioral response to amphetamine MP:0013894 anomaly in the behavioral response induced by amphetamine such as induced hyperactivity or stereotypic behavior https://orcid.org/0000-0003-4606-0597 any structural anomaly of the hairs that grow at the edge of the upper or lower eyelid; eyelashes protect the eye from debris and are sensitive to touch, thus providing a warning that an object is near the eye (which is then closed reflexively) abnormal eyelash morphology abnormal eyelid cilia morphology abnormal lash morphology MPheno.ontology MP:0013895 abnormal eyelid cilium morphology MP:0013895 any structural anomaly of the hairs that grow at the edge of the upper or lower eyelid; eyelashes protect the eye from debris and are sensitive to touch, thus providing a warning that an object is near the eye (which is then closed reflexively) https://orcid.org/0000-0002-6490-7723 anomaly in the number of the hairs that grow at the edge of the upper or lower eyelid abnormal eyelash number abnormal eyelid cilia number abnormal lash number MPheno.ontology MP:0013896 abnormal eyelid cilium number MP:0013896 anomaly in the number of the hairs that grow at the edge of the upper or lower eyelid https://orcid.org/0000-0002-6490-7723 reduction in the number of the hairs that grow at the edge of the upper or lower eyelid decreased eyelash number decreased eyelid cilia number decreased lash number MPheno.ontology MP:0013897 decreased eyelid cilium number MP:0013897 reduction in the number of the hairs that grow at the edge of the upper or lower eyelid https://orcid.org/0000-0002-6490-7723 decreased length of any of the hairs that grow at the edge of the upper or lower eyelid decreased eyelash length decreased eyelid cilia length decreased eyelid cilium length decreased lash length MPheno.ontology MP:0013898 short eyelid cilia MP:0013898 decreased length of any of the hairs that grow at the edge of the upper or lower eyelid https://orcid.org/0000-0002-6490-7723 any structural anomaly of the pseudostratified columnar epithelium that lines the seminal vesicles and consists of tall, non-ciliated columnar cells and short, rounded basal cells that rest on the basal lamina; polarized columnar cells show features typical of secretory epithelium, including a well-developed Golgi complex, abundant rough endoplasmic reticulum, numerous mitochondria, and apical secretory vesicles; basal cells are the stem cells from which the columnar cells are derived abnormal gonecyst epithelium morphology abnormal seminal gland epithelium morphology MPheno.ontology MP:0013899 abnormal seminal vesicle epithelium morphology MP:0013899 any structural anomaly of the pseudostratified columnar epithelium that lines the seminal vesicles and consists of tall, non-ciliated columnar cells and short, rounded basal cells that rest on the basal lamina; polarized columnar cells show features typical of secretory epithelium, including a well-developed Golgi complex, abundant rough endoplasmic reticulum, numerous mitochondria, and apical secretory vesicles; basal cells are the stem cells from which the columnar cells are derived ISBN:0781767903 ISBN:1455703079 https://orcid.org/0000-0002-6490-7723 a retrogressive impairment of function or destruction of the pseudostratified columnar epithelium that lines the seminal vesicles seminal gland epithelium degeneration MPheno.ontology MP:0013900 seminal vesicle epithelium degeneration MP:0013900 a retrogressive impairment of function or destruction of the pseudostratified columnar epithelium that lines the seminal vesicles https://orcid.org/0000-0002-6490-7723 absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attractivity; unlike other sebaceous glands, they undergo progressive atrophy of the glandular portion with marked ductal ectasia as rodents age; there is no true anatomical equivalent in humans absent clitoral gland absent clitoral glands absent female preputial glands MPheno.ontology MP:0013901 absent female preputial gland MP:0013901 absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attractivity; unlike other sebaceous glands, they undergo progressive atrophy of the glandular portion with marked ductal ectasia as rodents age; there is no true anatomical equivalent in humans https://orcid.org/0000-0002-6490-7723 any functional anomaly of the sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system; seminal vesicles secrete a whitish yellow alkaline fluid that constitutes 60-70 percent of the ejaculate in humans; seminal vesicle fluid secretion is androgen-dependent, fructose-rich, and important for semen coagulation, sperm motility, and stability of sperm chromatin and suppression of the immune activity in the female reproductive tract abnormal gonecyst physiology abnormal seminal gland physiology MPheno.ontology MP:0013902 abnormal seminal vesicle physiology MP:0013902 any functional anomaly of the sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system; seminal vesicles secrete a whitish yellow alkaline fluid that constitutes 60-70 percent of the ejaculate in humans; seminal vesicle fluid secretion is androgen-dependent, fructose-rich, and important for semen coagulation, sperm motility, and stability of sperm chromatin and suppression of the immune activity in the female reproductive tract https://orcid.org/0000-0002-6490-7723 any alteration in the expected chemical makeup or appearance of the whitish yellow alkaline fluid secreted by the seminal vesicles that constitutes 60-70 percent of the ejaculate in humans; the secretory product of the columnar epithelial cell, which may be seen in the lumen of seminal vesicles, is strongly acidophilic; it contains large amounts of fructose (used by spermatozoa as an energy source for motility) in addition to water, K+ ions, phosphorylcholine, prostaglandins, flavins, citrate, ascorbic acid, and several amino acids and enzymes; seminal vesicle fluid is responsible for coagulation of the ejaculate, can alter sperm motility and capacitation, and acts as an immunosuppressant in the female reproductive tract MPheno.ontology MP:0013903 abnormal seminal vesicle fluid composition MP:0013903 any alteration in the expected chemical makeup or appearance of the whitish yellow alkaline fluid secreted by the seminal vesicles that constitutes 60-70 percent of the ejaculate in humans; the secretory product of the columnar epithelial cell, which may be seen in the lumen of seminal vesicles, is strongly acidophilic; it contains large amounts of fructose (used by spermatozoa as an energy source for motility) in addition to water, K+ ions, phosphorylcholine, prostaglandins, flavins, citrate, ascorbic acid, and several amino acids and enzymes; seminal vesicle fluid is responsible for coagulation of the ejaculate, can alter sperm motility and capacitation, and acts as an immunosuppressant in the female reproductive tract ISBN:0781767903 ISBN:1455703079 http://www.lab.anhb.uwa.edu.au/mb140/corepages/malerepro/malerepro.htm#LabSeminal https://en.wikipedia.org/wiki/Seminal_vesicle#Function https://orcid.org/0000-0002-6490-7723 any structural anomaly of the thick muscular layer of the seminal vesicle consisting of an inner circular and outer longitudinal layer of smooth muscle which contracts during the emission phase of ejaculation to expel seminal vesicle fluid into the prostatic urethra abnormal muscular coat of seminal gland morphology abnormal muscular layer of seminal gland morphology abnormal seminal vesicle muscular coat morphology MPheno.ontology MP:0013904 abnormal seminal vesicle muscle layer morphology MP:0013904 any structural anomaly of the thick muscular layer of the seminal vesicle consisting of an inner circular and outer longitudinal layer of smooth muscle which contracts during the emission phase of ejaculation to expel seminal vesicle fluid into the prostatic urethra https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in any of the paired, lobulated, modified sebaceous glands located in the inguinal region adjacent to the penis and vagina, with pheromonal functions in male rodents; in males, the preputial gland empties into the preputial cavity and in females, the preputial (aka clitoral) gland duct empties into the clitoral fossa preputial inflammation MPheno.ontology MP:0013905 preputial gland inflammation MP:0013905 local accumulation of fluid, plasma proteins, and leukocytes in any of the paired, lobulated, modified sebaceous glands located in the inguinal region adjacent to the penis and vagina, with pheromonal functions in male rodents; in males, the preputial gland empties into the preputial cavity and in females, the preputial (aka clitoral) gland duct empties into the clitoral fossa https://orcid.org/0000-0002-6490-7723 absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops absent telencephalic vesicles MPheno.ontology MP:0013906 absent embryonic telencephalon MP:0013906 absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops https://orcid.org/0000-0002-6490-7723 any anomaly in the dynamic process by which CSF circulates from the sites of secretion to the sites of absorption according to a unidirectional rostrocaudal flow in ventricular cavities and a multidirectional flow in subarachnoid spaces; CSF produced by the choroid plexuses in the lateral ventricles travels through interventricular foramina to the third ventricle, and then the fourth ventricle via the cerebral aqueduct and finally to the subarachnoid spaces via the median aperture (foramen of Magendie) of the fourth ventricle; in the cranial subarachnoid space, CSF circulates rostrally to the villous sites of absorption or caudally to the spinal subarachnoid space; CSF circulation through the ventricular system is driven by motile cilia on ependymal cells of the brain; CSF flow is pulsatile, corresponding to the systolic pulse wave in choroidal arteries; additional factors such as respiratory waves, the subject's posture, jugular venous pressure and physical effort also modulate CSF flow dynamics and pressure abnormal CSF circulation abnormal CSF flow abnormal cerebrospinal fluid circulation MPheno.ontology MP:0013907 abnormal cerebrospinal fluid flow MP:0013907 any anomaly in the dynamic process by which CSF circulates from the sites of secretion to the sites of absorption according to a unidirectional rostrocaudal flow in ventricular cavities and a multidirectional flow in subarachnoid spaces; CSF produced by the choroid plexuses in the lateral ventricles travels through interventricular foramina to the third ventricle, and then the fourth ventricle via the cerebral aqueduct and finally to the subarachnoid spaces via the median aperture (foramen of Magendie) of the fourth ventricle; in the cranial subarachnoid space, CSF circulates rostrally to the villous sites of absorption or caudally to the spinal subarachnoid space; CSF circulation through the ventricular system is driven by motile cilia on ependymal cells of the brain; CSF flow is pulsatile, corresponding to the systolic pulse wave in choroidal arteries; additional factors such as respiratory waves, the subject's posture, jugular venous pressure and physical effort also modulate CSF flow dynamics and pressure PMID:22100360 PMID:24229449 https://orcid.org/0000-0002-6490-7723 decreased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle decreased lateral ventricle size decreased ventricle of cerebral hemisphere size decreased ventriculus lateralis size reduced lateral ventricle size MPheno.ontology MP:0013908 small lateral ventricles MP:0013908 decreased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle MESH:A08.186.211.276.650 decreased size of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina decreased 3rd ventricle size decreased ventriculus tertius size reduced 3rd ventricle size reduced ventriculus tertius size small 3rd ventricle small ventriculus tertius MPheno.ontology MP:0013909 small third ventricle MP:0013909 decreased size of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina MESH:A08.186.211.276.840 decreased size of the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space decreased fourth ventricle size reduced fourth ventricle size small 4th ventricle small IVth ventricle small rhombencephalic ventricle small ventricle of rhombencephalon small ventriculus quartus MPheno.ontology MP:0013910 small fourth ventricle MP:0013910 decreased size of the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space MESH:A08.186.211.276.500 https://orcid.org/0000-0003-3691-0324 union of the saccule and utricle of the inner ear vestibule into one structure fusion of saccule and utricle utrico-saccular fusion MPheno.ontology MP:0013911 fused vestibular saccule and utricle MP:0013911 union of the saccule and utricle of the inner ear vestibule into one structure https://orcid.org/0000-0003-3691-0324 anomaly in the synchronization of a circadian rhythm to environmental time cues such as light MP:0020476 MPheno.ontology MP:0013912 obsolete abnormal circardian rhythm entrainment true MP:0013912 anomaly in the synchronization of a circadian rhythm to environmental time cues such as light GO:0009649 one or more ribs are not connected to vertebra, where this connection is normally made absent rib-vertebral column attachment rib not connected to vertebra MPheno.ontology MP:0013913 absent costovertebral joint MP:0013913 one or more ribs are not connected to vertebra, where this connection is normally made https://orcid.org/0000-0003-3691-0324 absence of a segment of a vertebral artery when the absent segment would normally be located inside the skull absent fourth segment of vertebral artery absent intracranial vertebral artery segment absent intradural vertebral artery segment MPheno.ontology MP:0013914 absent intracranial segment of vertebral artery MP:0013914 absence of a segment of a vertebral artery when the absent segment would normally be located inside the skull https://orcid.org/0000-0003-4606-0597 url:https://radiopaedia.org/articles/vertebral-artery abnormal formation of the arrangement of nerve fibers, running from the spine, formed by the ventral rami of the lower cervical and upper thoracic nerve root, specifically from below the fifth cervical vertebra to above the first thoracic vertebra abnormal brachial nerve plexus formation MPheno.ontology MP:0013915 abnormal brachial plexus formation MP:0013915 abnormal formation of the arrangement of nerve fibers, running from the spine, formed by the ventral rami of the lower cervical and upper thoracic nerve root, specifically from below the fifth cervical vertebra to above the first thoracic vertebra UBERON:0001814 reduced length of the digestive tube passing from the stomach to the anus, consisting of the small and large intestine divisions reduced length of intestine short intestine MPheno.ontology MP:0013916 decreased intestine length MP:0013916 reduced length of the digestive tube passing from the stomach to the anus, consisting of the small and large intestine divisions ISBN:0-683-40008-8 failure of right 6th pharyngeal arch artery regression persistent right 6th PAA persistent right sixth branchial arch artery MPheno.ontology MP:0013917 persistent right 6th pharyngeal arch artery MP:0013917 failure of right 6th pharyngeal arch artery regression https://orcid.org/0000-0003-4606-0597 abnormal position of the dilated blind extremity of the endolymphatic duct, which lies external to the dura on the posterior aspect of the petrous part of the temporal bone abnormal Bottcher space topology abnormal Cotunnius space topology abnormal sacculus endolymphaticus topology abnormal saccus endolymphaticu topology MPheno.ontology MP:0013918 abnormal endolymphatic sac topology MP:0013918 abnormal position of the dilated blind extremity of the endolymphatic duct, which lies external to the dura on the posterior aspect of the petrous part of the temporal bone PMID:1346922 ny deviation from the expected reflex action normally induced by an electrical stimulus MPheno.ontology MP:0013919 abnormal response to electrical stimuli MP:0013919 ny deviation from the expected reflex action normally induced by an electrical stimulus https://orcid.org/0000-0003-3691-0324 lower threshold to exhibit an expected reflex action normally induced by an electrical stimulus MPheno.ontology MP:0013920 hyperresponsive to electrical stimuli MP:0013920 lower threshold to exhibit an expected reflex action normally induced by an electrical stimulus https://orcid.org/0000-0003-3691-0324 higher threshold to exhibit an expected reflex action normally induced by an electrical stimulus MPheno.ontology MP:0013921 hyporesponsive to electrical stimuli MP:0013921 higher threshold to exhibit an expected reflex action normally induced by an electrical stimulus https://orcid.org/0000-0003-3691-0324 inability to exhibit an expected reflex action normally induced by an electrical stimulus MPheno.ontology MP:0013922 unresponsive to electrical stimuli MP:0013922 inability to exhibit an expected reflex action normally induced by an electrical stimulus https://orcid.org/0000-0003-3691-0324 decreased size of the sympathetic ganglia located in front of the vertebral column and are associated with the major branches of the abdominal aorta; these include the celiac, aorticorenal, superior and inferior mesenteric ganglia decreased prevertebral ganglion size reduced prevertebral ganglion size MPheno.ontology MP:0013923 small prevertebral sympathetic ganglia MP:0013923 decreased size of the sympathetic ganglia located in front of the vertebral column and are associated with the major branches of the abdominal aorta; these include the celiac, aorticorenal, superior and inferior mesenteric ganglia ISBN:0-683-40008-8 any structural anomaly of the endothelium-lined venous channels in the dura mater abnormal cerebral sinus morphology abnormal cranial dural venous sinus morphology abnormal dural sinus morphology abnormal dural vein morphology abnormal sinus of dura mater morphology abnormal venous dural sinus morphology MPheno.ontology MP:0013924 abnormal dural venous sinus morphology MP:0013924 any structural anomaly of the endothelium-lined venous channels in the dura mater ISBN:0-683-40008-8 any anomaly in the development of a vascular network formed by frequent anastomoses between the blood vessels MPheno.ontology MP:0013925 abnormal vascular plexus formation MP:0013925 any anomaly in the development of a vascular network formed by frequent anastomoses between the blood vessels http://purl.obolibrary.org/obo/UBERON_0005629 absence of the posterior lobe of the pituitary gland MPheno.ontology MP:0013926 absent neurohypophysis MP:0013926 absence of the posterior lobe of the pituitary gland https://orcid.org/0000-0003-3691-0324 abnormal position of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue MPheno.ontology MP:0013927 abnormal facial nerve topology MP:0013927 abnormal position of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue https://orcid.org/0000-0003-3691-0324 slender appearance of the portion of the trigeminal nerve containing motor fibers, motor fibers are only found in the mandibular branch of the trigeminal nerve and derive from the basal plate of the embryonic pons MPheno.ontology MP:0013928 thin motoric part of trigeminal nerve MP:0013928 slender appearance of the portion of the trigeminal nerve containing motor fibers, motor fibers are only found in the mandibular branch of the trigeminal nerve and derive from the basal plate of the embryonic pons http://teachmeanatomy.info/head/cranial-nerves/trigeminal-nerve/ https://en.wikipedia.org/wiki/Trigeminal_nerve absence of the muscles of the eye MPheno.ontology MP:0013929 absent eye muscles MP:0013929 absence of the muscles of the eye https://orcid.org/0000-0003-4606-0597 any anomaly in the attachment of the digastric muscles MPheno.ontology MP:0013930 abnormal digastric muscle connection MP:0013930 any anomaly in the attachment of the digastric muscles https://orcid.org/0000-0003-4606-0597 anomaly in the location or orientation of the olfactory bulb MPheno.ontology MP:0013931 abnormal olfactory bulb position MP:0013931 anomaly in the location or orientation of the olfactory bulb https://orcid.org/0000-0003-4606-0597 the Meckel's carilage is broken into separate pieces MPheno.ontology MP:0013932 fragmented Meckel's cartilage MP:0013932 the Meckel's carilage is broken into separate pieces https://orcid.org/0000-0003-4606-0597 length reduction or truncation of the cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible and gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments decreased Meckel cartilage length decreased Meckel's cartilage length decreased mandibular cartilage length reduced Meckel cartilage length reduced Meckel's cartilage length reduced mandibular cartilage length short Meckel cartilage short mandibular cartilage truncated Meckel cartilage truncated Meckel's cartilage truncated mandibular cartilage MPheno.ontology MP:0013933 short Meckel's cartilage MP:0013933 length reduction or truncation of the cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible and gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments https://orcid.org/0000-0002-6490-7723 increase in size of the ventricles located above the tentorium cerebelli in the cerebrum enlarged supratentorial ventricles increased supratentorial ventricles size MPheno.ontology MP:0013934 supratentorial ventricles enlargement MP:0013934 increase in size of the ventricles located above the tentorium cerebelli in the cerebrum https://en.wikipedia.org/wiki/Supratentorial_region protrusion of the tissue from the base of the brain through rigid dural folds or the skull herniated basal brain tissue MPheno.ontology MP:0013935 basal brain tissue herniation MP:0013935 protrusion of the tissue from the base of the brain through rigid dural folds or the skull https://doi.org/10.1016/B978-0-12-804075-1.00001-8 abnormal position of the primary lymphoid organ that is required for maturation of T cells and secretion of thymosins, hormones that stimulate the development of antibodies MPheno.ontology MP:0013936 abnormal thymus topology MP:0013936 abnormal position of the primary lymphoid organ that is required for maturation of T cells and secretion of thymosins, hormones that stimulate the development of antibodies https://orcid.org/0000-0003-3691-0324 absence of one or more of the conical shaped sections of the thyroid gland MPheno.ontology MP:0013937 absent lobe of thyroid gland MP:0013937 absence of one or more of the conical shaped sections of the thyroid gland http://purl.obolibrary.org/obo/UBERON_0001118 abnormal position of the part of the digestive canal through which food passes from the pharynx to the stomach abnormal oesophagus topology MPheno.ontology MP:0013938 abnormal esophagus topology MP:0013938 abnormal position of the part of the digestive canal through which food passes from the pharynx to the stomach https://orcid.org/0000-0003-3691-0324 any structural anomaly of an activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative MPheno.ontology MP:0013939 abnormal plasmablast morphology MP:0013939 any structural anomaly of an activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative CL:0000980 anomaly in the number of an activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative MPheno.ontology MP:0013940 abnormal plasmablast number MP:0013940 anomaly in the number of an activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative CL:0000980 any structural anomaly of the connective tissue between tendon and bone insertion sites; the area which acts to transmit tensile load from soft tissues to bone; they may be of the dense fibrous connective tissue or fibrocartilage type; fibrous entheses attach directly to bone or periosteum primarily via fibrous tissue, and fibrocartilaginous entheses attach to bone through a transitional layer of fibrocartilage from the fibrous tendon tissue MPheno.ontology MP:0013941 abnormal enthesis morphology MP:0013941 any structural anomaly of the connective tissue between tendon and bone insertion sites; the area which acts to transmit tensile load from soft tissues to bone; they may be of the dense fibrous connective tissue or fibrocartilage type; fibrous entheses attach directly to bone or periosteum primarily via fibrous tissue, and fibrocartilaginous entheses attach to bone through a transitional layer of fibrocartilage from the fibrous tendon tissue PMID:25489552 inflammation of the entheses, the sites where tendons or ligaments insert into the bone; the entheses are any point of attachment of skeletal muscles to the bone, where recurring stress or inflammatory autoimmune disease can cause inflammation or occasionally fibrosis and calcification pathologic condition involving the entheses enthesopathy MPheno.ontology MP:0013942 enthesitis MP:0013942 inflammation of the entheses, the sites where tendons or ligaments insert into the bone; the entheses are any point of attachment of skeletal muscles to the bone, where recurring stress or inflammatory autoimmune disease can cause inflammation or occasionally fibrosis and calcification https://en.wikipedia.org/wiki/Enthesitis abnormal position of the tube that conducts the urine from the renal pelvis to the bladder MPheno.ontology MP:0013943 abnormal ureter topology MP:0013943 abnormal position of the tube that conducts the urine from the renal pelvis to the bladder https://orcid.org/0000-0003-3691-0324 failure of the cloacal membrane proper to rupture and regress during development persisting cloacal membrane MPheno.ontology MP:0013944 persistent cloacal membrane MP:0013944 failure of the cloacal membrane proper to rupture and regress during development PMID:30294789 any structural anomaly of the joint that connects the forelimb zeugopod and stylopod skeletons abnormal articulatio cubiti morphology abnormal cubital region joint morphology MPheno.ontology MP:0013945 abnormal elbow joint morphology MP:0013945 any structural anomaly of the joint that connects the forelimb zeugopod and stylopod skeletons UBERON:0001490 any structural anomaly of the tissue(s) surrounding the rectum MPheno.ontology MP:0013946 abnormal perirectal tissue morphology MP:0013946 any structural anomaly of the tissue(s) surrounding the rectum https://medical-dictionary.thefreedictionary.com/perirectal https://www.merriam-webster.com/medical/perirectal any structural anomaly of the chromaffin paraganglion located at the bifurcation of the aorta or at the origin of the inferior mesenteric artery abnormal organ of Zuckerkandl morphology abnormal para-aortic body morphology abnormal paraganglion of Zuckerkandl morphology MPheno.ontology MP:0013947 abnormal paraaortic body morphology MP:0013947 any structural anomaly of the chromaffin paraganglion located at the bifurcation of the aorta or at the origin of the inferior mesenteric artery UBERON:0001237 MPheno.ontology MP:0013948 intraembryonal intestine elongation MP:0013948 union of elements of the second cervical vertebra (axis, C2) and the bone at the lower, posterior part of the skull into one structure axis and occipital bone fusion dens axis and occipital bone fused MPheno.ontology MP:0013949 fusion of axis and occipital bones MP:0013949 union of elements of the second cervical vertebra (axis, C2) and the bone at the lower, posterior part of the skull into one structure https://orcid.org/0000-0002-6490-7723 abnormal position of the dorsal root ganglion in relation to other structures abnormal topology of dorsal root ganglion MPheno.ontology MP:0013950 abnormal dorsal root ganglion topology MP:0013950 abnormal position of the dorsal root ganglion in relation to other structures https://orcid.org/0000-0003-3691-0324 abnormal position of the descending aorta in relation to other structures abnormal topology of descending aorta MPheno.ontology MP:0013951 abnormal descending aorta topology MP:0013951 abnormal position of the descending aorta in relation to other structures https://orcid.org/0000-0003-3691-0324 the left subclavian artery arises from the descending portion of the aortic arch, crossing over to the left upper extremity behind the esophagus retro-esophageal left subclavian artery retro-oesophageal left subclavian artery MPheno.ontology MP:0013952 retroesophageal left subclavian artery MP:0013952 the left subclavian artery arises from the descending portion of the aortic arch, crossing over to the left upper extremity behind the esophagus PMID:23869265 the brachiocephalic trunk arises on the left side of the body, often seen in conjunction with right aortic arch MPheno.ontology MP:0013953 left sided brachiocephalic trunk MP:0013953 the brachiocephalic trunk arises on the left side of the body, often seen in conjunction with right aortic arch https://orcid.org/0000-0003-3691-0324 increased length of the digestive tube passing from the stomach to the anus, consisting of the small and large intestine divisions long intestine MPheno.ontology MP:0013954 increased intestine length MP:0013954 increased length of the digestive tube passing from the stomach to the anus, consisting of the small and large intestine divisions ISBN:0683400088 increased length of the portion of the large intestine between the cecum and the rectum long colon MPheno.ontology MP:0013955 increased colon length MP:0013955 increased length of the portion of the large intestine between the cecum and the rectum ISBN:0683400088 reduced length of the portion of the large intestine between the cecum and the rectum reduced colon length short colon MPheno.ontology MP:0013956 decreased colon length MP:0013956 reduced length of the portion of the large intestine between the cecum and the rectum ISBN:0683400088 increased length of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum long small intestine MPheno.ontology MP:0013957 increased small intestine length MP:0013957 increased length of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum ISBN:0683400088 reduced length of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum reduced small intestine length short small intestine MPheno.ontology MP:0013958 decreased small intestine length MP:0013958 reduced length of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum ISBN:0683400088 increased length of the portion of the digestive tube extending from the ileocecal valve to the anus, consisting of the cecum, colon, rectum and anal canal long large intestine MPheno.ontology MP:0013959 increased large intestine length MP:0013959 increased length of the portion of the digestive tube extending from the ileocecal valve to the anus, consisting of the cecum, colon, rectum and anal canal ISBN:0683400088 reduced length of the portion of the digestive tube extending from the ileocecal valve to the anus, consisting of the cecum, colon, rectum and anal canal reduced large intestine length short large intestine MPheno.ontology MP:0013960 decreased large intestine length MP:0013960 reduced length of the portion of the digestive tube extending from the ileocecal valve to the anus, consisting of the cecum, colon, rectum and anal canal ISBN:0683400088 any structural anomaly of the dark, nonstriated, V-shaped band (ridge) found on the underside of the tectorial membrane (TM) in the basal region of the cochlea, from which fine gelatinous trabeculae extend to fix the TM to the border cells, i.e. cells directly adjacent to the inner phalangeal cells; Hensen's stripe is continuous with a more external homogeneous basal layer, from which a marginal band of an amorphous substance originates; the marginal net extends from the marginal band and attaches the lateral border of the TM to Hensen's cells of the organ of Corti. Hensen's stripe and the homogeneous basal layers display interruptions through which the fibrillar structure of the TM is visible abnormal Hensen's stripe morphology MPheno.ontology MP:0013961 abnormal Hensen stripe morphology MP:0013961 any structural anomaly of the dark, nonstriated, V-shaped band (ridge) found on the underside of the tectorial membrane (TM) in the basal region of the cochlea, from which fine gelatinous trabeculae extend to fix the TM to the border cells, i.e. cells directly adjacent to the inner phalangeal cells; Hensen's stripe is continuous with a more external homogeneous basal layer, from which a marginal band of an amorphous substance originates; the marginal net extends from the marginal band and attaches the lateral border of the TM to Hensen's cells of the organ of Corti. Hensen's stripe and the homogeneous basal layers display interruptions through which the fibrillar structure of the TM is visible ISBN:3662026767 PMID:25080593 absence of the dark, nonstriated, V-shaped band (ridge) that is normally found on the underside of the tectorial membrane (TM) in the basal region of the cochlea, from which fine gelatinous trabeculae extend to fix the TM to the border cells, i.e. cells directly adjacent to the inner phalangeal cells absent Hensen's stripe MPheno.ontology MP:0013962 absent Hensen stripe MP:0013962 absence of the dark, nonstriated, V-shaped band (ridge) that is normally found on the underside of the tectorial membrane (TM) in the basal region of the cochlea, from which fine gelatinous trabeculae extend to fix the TM to the border cells, i.e. cells directly adjacent to the inner phalangeal cells ISBN:3662026767 PMID:25080593 abnormal narrowing or constriction of any of the veins that bring deoxygenated blood from the head back to the heart via the superior vena cava jugular vein narrowing MPheno.ontology MP:0013963 jugular vein stenosis MP:0013963 abnormal narrowing or constriction of any of the veins that bring deoxygenated blood from the head back to the heart via the superior vena cava UBERON:0004711 https://orcid.org/0000-0002-6490-7723 absence of any or all of the extrinsinc or intrinsic muscles of the tongue absent lingual muscles MPheno.ontology MP:0013964 absent tongue muscles MP:0013964 absence of any or all of the extrinsinc or intrinsic muscles of the tongue https://orcid.org/0000-0002-6490-7723 increased depth of the median groove that extends from the tip of the tongue to the foramen cecum and divides the dorsum of the tongue into right and left halves abnormally deep median groove of tongue abnormally deep median longitudinal raphe of tongue MPheno.ontology MP:0013965 abnormally deep median sulcus of tongue MP:0013965 increased depth of the median groove that extends from the tip of the tongue to the foramen cecum and divides the dorsum of the tongue into right and left halves https://medical-dictionary.thefreedictionary.com/median+sulcus+of+tongue https://orcid.org/0000-0002-6490-7723 https://www.imaios.com/en/e-Anatomy/Anatomical-Parts/Median-sulcus-of-tongue any structural anomaly of any of the four paired muscles located in the anterior neck below the hyoid bone, within the muscular triangle; these muscles are long and flat in shape, similar to a belt or strap, and are responsible for depressing the hyoid during swallowing; they either originate from or insert on to the hyoid bone and include the sternohyoid, sternothyroid, thyrohyoid and omohyoid muscles abnormal strap muscle morphology infrahyoid muscle dysplasia MPheno.ontology MP:0013966 abnormal infrahyoid muscle morphology MP:0013966 any structural anomaly of any of the four paired muscles located in the anterior neck below the hyoid bone, within the muscular triangle; these muscles are long and flat in shape, similar to a belt or strap, and are responsible for depressing the hyoid during swallowing; they either originate from or insert on to the hyoid bone and include the sternohyoid, sternothyroid, thyrohyoid and omohyoid muscles https://en.wikipedia.org/wiki/Infrahyoid_muscles https://orcid.org/0000-0002-6490-7723 https://radiopaedia.org/articles/infrahyoid-muscles any anomaly in the attachment of the infrahyoid muscle MPheno.ontology MP:0013967 abnormal infrahyoid muscle connection MP:0013967 any anomaly in the attachment of the infrahyoid muscle https://orcid.org/0000-0003-4606-0597 presence of multiple openings in midline sphenoid body from the sellar floor to the nasopharynx multiple persistent craniopharyngeal canals MPheno.ontology MP:0013968 multiple persisting craniopharyngeal ducts MP:0013968 presence of multiple openings in midline sphenoid body from the sellar floor to the nasopharynx PMID:24184521 decreased size of one or more of the 3 paravertebral sympathetic ganglia, the superior, middle, and inferior cervical ganglia that provide sympathetic innervation to the smooth muscle, glands, and mucosa of the head decreased sympathetic carvical ganglion size diminished sympathetic cervical ganglion material small sympathetic cervical ganglion MPheno.ontology MP:0013969 reduced sympathetic cervical ganglion size MP:0013969 decreased size of one or more of the 3 paravertebral sympathetic ganglia, the superior, middle, and inferior cervical ganglia that provide sympathetic innervation to the smooth muscle, glands, and mucosa of the head http://purl.obolibrary.org/obo/UBERON_0001991 https://www.sciencedirect.com/topics/medicine-and-dentistry/cervical-ganglion absence of the attachment or communication between the subcutaneous lymph vessels and lymph sacs MPheno.ontology MP:0013970 absent connection between subcutaneous lymph vessels and lymph sac MP:0013970 absence of the attachment or communication between the subcutaneous lymph vessels and lymph sacs https://orcid.org/0000-0003-4606-0597 abnormal presence of constituents of blood not normally found in lymph vessels MPheno.ontology MP:0013971 blood in lymph vessels MP:0013971 abnormal presence of constituents of blood not normally found in lymph vessels https://orcid.org/0000-0003-4606-0597 rare anatomical variants resulting from incomplete or aberrant fusion of occipital bone ossification centers; most common occipital vertebrae variations include third condyle (condylus tertius), basilar process, paracondylar process and prebasioccipital arch MPheno.ontology MP:0013972 occipital vertebra MP:0013972 rare anatomical variants resulting from incomplete or aberrant fusion of occipital bone ossification centers; most common occipital vertebrae variations include third condyle (condylus tertius), basilar process, paracondylar process and prebasioccipital arch https://radiopaedia.org/articles/occipital-vertebra?lang=us any anomaly in the attachment of the hepatic vein to other vessels MPheno.ontology MP:0013973 abnormal hepatic vein connection MP:0013973 any anomaly in the attachment of the hepatic vein to other vessels https://orcid.org/0000-0003-4606-0597 any anomaly in the attachment of the coronary vein to other vessels MPheno.ontology MP:0013974 abnormal coronary vein connection MP:0013974 any anomaly in the attachment of the coronary vein to other vessels https://orcid.org/0000-0003-4606-0597 any anomaly in the attachment of the coronary sinus to the cardiac veins or heart abnormal sinus coronarius connection MPheno.ontology MP:0013975 abnormal coronary sinus connection MP:0013975 any anomaly in the attachment of the coronary sinus to the cardiac veins or heart https://orcid.org/0000-0003-4606-0597 any anomaly in the connection formed by the left common cardinal vein and the left superior cardinal vein; this connection usually regresses during development MPheno.ontology MP:0013976 abnormal left vena cava superior connection MP:0013976 any anomaly in the connection formed by the left common cardinal vein and the left superior cardinal vein; this connection usually regresses during development PMID:33057803 presence of a pair of similar caliber azygos veins on the left and right sides MPheno.ontology MP:0013977 symmetric azygos veins MP:0013977 presence of a pair of similar caliber azygos veins on the left and right sides PMID:1805438 any anomaly in the location from which the carotid artery arises MPheno.ontology MP:0013978 abnormal carotid artery origin MP:0013978 any anomaly in the location from which the carotid artery arises https://orcid.org/0000-0003-4606-0597 any anomaly in the location from which the subclavian artery arises MPheno.ontology MP:0013979 abnormal subclavian artery origin MP:0013979 any anomaly in the location from which the subclavian artery arises https://orcid.org/0000-0003-4606-0597 any anomaly in the location from which the pulmonary artery arises MPheno.ontology MP:0013980 abnormal pulmonary artery origin MP:0013980 any anomaly in the location from which the pulmonary artery arises https://orcid.org/0000-0003-4606-0597 interuption of the 4th aortic arch and persistence of the 5th arch resulting in the presence of two lumens MPheno.ontology MP:0013981 double lumen aortic arch MP:0013981 interuption of the 4th aortic arch and persistence of the 5th arch resulting in the presence of two lumens https://doi.org/10.1016/j.athoracsur.2015.10.014 anomaly in the asymmetry of the large arteries of the thoracic region (aorta, pulmonary arteries, common carotid arteries, subclavian arteries) such that these structures on both the left and right side have the morphology normally seen on the opposite side of the body MPheno.ontology MP:0013982 inverse situs of great intrathoracic arteries MP:0013982 anomaly in the asymmetry of the large arteries of the thoracic region (aorta, pulmonary arteries, common carotid arteries, subclavian arteries) such that these structures on both the left and right side have the morphology normally seen on the opposite side of the body PMID:28776665 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the blood vessel that drains blood from the small intestine, it combines with the splenic vein to form the hepatic portal vein MPheno.ontology MP:0013983 abnormal superior mesenteric vein morphology MP:0013983 any structural anomaly of the blood vessel that drains blood from the small intestine, it combines with the splenic vein to form the hepatic portal vein UBERON:0001138 MPheno.ontology MP:0013984 abnormal superior mesenterial vein connection MP:0013984 abnormal position of the umbilical vein in relationship to other umbilical cord structures MPheno.ontology MP:0013985 abnormal umbilical vein topology MP:0013985 abnormal position of the umbilical vein in relationship to other umbilical cord structures https://orcid.org/0000-0003-3691-0324 abnormal position of the paired veins that carry blood from the yolk sac back to the embryo MPheno.ontology MP:0013986 abnormal vitelline vein topology MP:0013986 abnormal position of the paired veins that carry blood from the yolk sac back to the embryo https://orcid.org/0000-0003-3691-0324 absence of the portion of the of inferior vena cava that connects to the hepatic veins MPheno.ontology MP:0013987 absent intrahepatic inferior vena cava segment MP:0013987 absence of the portion of the of inferior vena cava that connects to the hepatic veins http://pubs.rsna.org/doi/full/10.1148/rg.352140136 https://radiopaedia.org/articles/inferior-vena-cava-1 absence of part but not all of the portal vein MPheno.ontology MP:0013988 absent portal vein segment MP:0013988 absence of part but not all of the portal vein https://orcid.org/0000-0003-4606-0597 symmetric liver veins MPheno.ontology MP:0013989 symmetric hepatic veins MP:0013989 any structural anomaly of the two large arteries that originate from the aortic bifurcation of the abdomainal aorta; the right and left common iliac arteries run along each side of the body towards the edges of the pelvis, where they each split again into internal and external iliac arteries at the pelvic inlet MPheno.ontology MP:0013990 abnormal common iliac artery morphology MP:0013990 any structural anomaly of the two large arteries that originate from the aortic bifurcation of the abdomainal aorta; the right and left common iliac arteries run along each side of the body towards the edges of the pelvis, where they each split again into internal and external iliac arteries at the pelvic inlet http://www.healthline.com/human-body-maps/common-iliac-artery any anomaly in the location from which the common iliac arteries arise; normally, these two large arteries originate from the aortic bifurcation of the abdomainal aorta MPheno.ontology MP:0013991 abnormal common iliac artery origin MP:0013991 any anomaly in the location from which the common iliac arteries arise; normally, these two large arteries originate from the aortic bifurcation of the abdomainal aorta https://orcid.org/0000-0002-6490-7723 the artery originates from the cavernous segment of the internal carotid artery and enters the orbit via the superior orbital fissure MPheno.ontology MP:0013992 persistent dorsal ophthalmic artery MP:0013992 the artery originates from the cavernous segment of the internal carotid artery and enters the orbit via the superior orbital fissure PMID:23430064 https://radiopaedia.org/articles/persistent-dorsal-ophthalmic-artery?lang=us any anomalous cross-connection between the basilar artery and the common carotid artery MPheno.ontology MP:0013993 anastomosis between basilar artery and common carotid artery MP:0013993 any anomalous cross-connection between the basilar artery and the common carotid artery http://medical-dictionary.thefreedictionary.com/anastomosis any structural anomaly of the branches of the segment of the internal carotid artery located in region in the brain next to the hollow in the skull bone that contains the pituitary gland running from the superomedial petrous apex to the proximal dural ring MPheno.ontology MP:0013994 abnormal parasellar internal carotid artery branch morphology MP:0013994 any structural anomaly of the branches of the segment of the internal carotid artery located in region in the brain next to the hollow in the skull bone that contains the pituitary gland running from the superomedial petrous apex to the proximal dural ring https://neurosurgerypaedia.org/wiki/doku.php?id=internal_carotid_artery_segments https://orcid.org/0000-0003-4606-0597 any anomaly in the location from which the external carotid artery arises MPheno.ontology MP:0013995 abnormal external carotid artery origin MP:0013995 any anomaly in the location from which the external carotid artery arises https://orcid.org/0000-0003-4606-0597 any anomaly in the location from which the vertebral artery arises; each vertebral artery usually arises from the supraposterior aspect of the first part of the subclavian artery MPheno.ontology MP:0013996 abnormal vertebral artery origin MP:0013996 any anomaly in the location from which the vertebral artery arises; each vertebral artery usually arises from the supraposterior aspect of the first part of the subclavian artery https://doi.org/10.1093/qjmed/hcg003 https://orcid.org/0000-0002-6490-7723 abnormal position of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes MPheno.ontology MP:0013997 abnormal internal carotid artery topology MP:0013997 abnormal position of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes https://orcid.org/0000-0003-3691-0324 absence of the segment of the internal carotid artery that passes through the carotid canal MPheno.ontology MP:0013998 absent canalicular internal carotid artery segment MP:0013998 absence of the segment of the internal carotid artery that passes through the carotid canal https://orcid.org/0000-0003-4606-0597 https://radiopaedia.org/articles/internal-carotid-artery-1 absence of the segment of the internal carotid artery located in region in the brain next to the hollow in the skull bone that contains the pituitary gland running from the superomedial petrous apex to the proximal dural ring absent internal carotid artery cavernous segment MPheno.ontology MP:0013999 absent parasellar internal carotid artery MP:0013999 absence of the segment of the internal carotid artery located in region in the brain next to the hollow in the skull bone that contains the pituitary gland running from the superomedial petrous apex to the proximal dural ring https://neurosurgerypaedia.org/wiki/doku.php?id=internal_carotid_artery_segments https://orcid.org/0000-0003-4606-0597 any anomalous cross-connection between the basilar artery and the internal carotid artery MPheno.ontology MP:0014000 anastomosis between internal carotid artery and basilar artery MP:0014000 any anomalous cross-connection between the basilar artery and the internal carotid artery http://medical-dictionary.thefreedictionary.com/anastomosis abnormal position of the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck MPheno.ontology MP:0014001 abnormal vertebral artery topology MP:0014001 abnormal position of the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck https://orcid.org/0000-0003-3691-0324 absence of a segment of a vertebral artery when the absent segment would normally be located outside the skull absent extracranial segment of vertebral artery MPheno.ontology MP:0014002 absent extracranial vertebral artery segment MP:0014002 absence of a segment of a vertebral artery when the absent segment would normally be located outside the skull https://orcid.org/0000-0003-4606-0597 greater than the expected number of connections between the segments of the vertebral arteries located within the skull MPheno.ontology MP:0014003 additional anastomosis between intracranial vertebral arteries MP:0014003 greater than the expected number of connections between the segments of the vertebral arteries located within the skull https://orcid.org/0000-0003-4606-0597 absence of a portion of the basilar artery MPheno.ontology MP:0014004 absent basilar artery segment MP:0014004 absence of a portion of the basilar artery https://orcid.org/0000-0003-4606-0597 any structural anomaly of one or both of the pair of right-sided and left-sided blood vessels in the circle of Willis that connect the three cerebral arteries of the same side abnormal caudal communicating segment morphology abnormal posterior communicating segment of the basilar artery morphology MPheno.ontology MP:0014005 abnormal posterior communicating artery morphology MP:0014005 any structural anomaly of one or both of the pair of right-sided and left-sided blood vessels in the circle of Willis that connect the three cerebral arteries of the same side UBERON:0001628 missing the pair of right-sided and left-sided blood vessels in the circle of Willis that connect the three cerebral arteries of the same side absent caudal communicating segment absent communicans posterior artery absent posterior communicating segment of the basilar artery MPheno.ontology MP:0014006 absent posterior communicating artery MP:0014006 missing the pair of right-sided and left-sided blood vessels in the circle of Willis that connect the three cerebral arteries of the same side UBERON:0001628 any structural anomaly of the long slender branch of the anterior inferior cerebellar artery (85%-100% cases) or basilar artery (<15% cases) that arises from near the middle of the artery; it accompanies the vestibulocochlear nerve through the internal acoustic meatus, and is distributed to the internal ear abnormal arteria auditiva interna morphology abnormal arteria labyrinthi morphology anormal internal auditory artery morphology MPheno.ontology MP:0014007 abnormal labyrinthine artery morphology MP:0014007 any structural anomaly of the long slender branch of the anterior inferior cerebellar artery (85%-100% cases) or basilar artery (<15% cases) that arises from near the middle of the artery; it accompanies the vestibulocochlear nerve through the internal acoustic meatus, and is distributed to the internal ear UBERON:0018231 missing the long slender branch of the anterior inferior cerebellar artery (85%-100% cases) or basilar artery (<15% cases) that arises from near the middle of the artery absent arteria auditiva interna absent arteria labyrinthi absent internal auditory artery MPheno.ontology MP:0014008 absent labyrinthine artery MP:0014008 missing the long slender branch of the anterior inferior cerebellar artery (85%-100% cases) or basilar artery (<15% cases) that arises from near the middle of the artery UBERON:0018231 any anomalous cross-connection between the middle cerebral arteries MPheno.ontology MP:0014009 anastomosis between middle cerebral arteries MP:0014009 any anomalous cross-connection between the middle cerebral arteries http://medical-dictionary.thefreedictionary.com/anastomosis any structural anomaly of a small cytoplasmic organelle enclosed by a single membrane that contains peroxidases and other enzymes which are important for a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism abnormal peroxisomal morphology abnormal peroxisome vesicle morphology MPheno.ontology MP:0014010 abnormal peroxisome morphology MP:0014010 any structural anomaly of a small cytoplasmic organelle enclosed by a single membrane that contains peroxidases and other enzymes which are important for a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism GO:0005777 any anomaly in the texture of the ovarian tissue MPheno.ontology MP:0014011 abnormal ovary tissue architecture MP:0014011 any anomaly in the texture of the ovarian tissue https://orcid.org/0000-0003-4606-0597 any structural anomaly of blood vasculature that is part of a head abnormal cranial blood vessel morphology MPheno.ontology MP:0014012 abnormal cranial blood vasculature morphology MP:0014012 any structural anomaly of blood vasculature that is part of a head UBERON:0011362 any structural artery of an artery that supplies blood to the cerebellum MPheno.ontology MP:0014013 abnormal cerebellar artery morphology MP:0014013 any structural artery of an artery that supplies blood to the cerebellum UBERON:0003472 any structural anomaly of a basilar artery branch that supplies the anterior portion of the inferior surface of the cerebellum MPheno.ontology MP:0014014 abnormal anterior inferior cerebellar artery morphology MP:0014014 any structural anomaly of a basilar artery branch that supplies the anterior portion of the inferior surface of the cerebellum UBERON:0009689 any structural anomaly of the artery that arises near the termination of the basilar artery and passes lateralward immediately below the oculomotor nerve arriving at the upper surface of the cerebellum where it divides into branches which ramify in the pia mater and anastomose with those of the inferior cerebellar arteries MPheno.ontology MP:0014015 abnormal superior cerebellar artery morphology MP:0014015 any structural anomaly of the artery that arises near the termination of the basilar artery and passes lateralward immediately below the oculomotor nerve arriving at the upper surface of the cerebellum where it divides into branches which ramify in the pia mater and anastomose with those of the inferior cerebellar arteries UBERON:0001635 any structural anomaly of the circle of arteries that supply blood to the brain abnormal arterial circle of Willis morphology abnormal cerebral arterial circle morphology MPheno.ontology MP:0014016 abnormal circle of Willis morphology MP:0014016 any structural anomaly of the circle of arteries that supply blood to the brain UBERON:0003709 aberrant attachment or incomplete connection of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) to the cloaca MPheno.ontology MP:0014017 abnormal Wolffian duct connection MP:0014017 aberrant attachment or incomplete connection of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) to the cloaca ISBN:0-683-40008-8 presence of an unspecified tumor or aberrant growth in a prenatal organism embryo tumour MPheno.ontology MP:0014018 embryo tumor MP:0014018 presence of an unspecified tumor or aberrant growth in a prenatal organism https://orcid.org/0000-0003-3691-0324 presence of one or more abnormal membranous sacs in any portion of embryonic tissue cystic embryonic tissue embryo cysts MPheno.ontology MP:0014019 embryo cyst MP:0014019 presence of one or more abnormal membranous sacs in any portion of embryonic tissue https://orcid.org/0000-0002-6490-7723 leakage of blood through the innermost layer of the blood vessel and flowing between the inner and outer vessel walls MPheno.ontology MP:0014020 intramural bleeding in blood vessel wall MP:0014020 leakage of blood through the innermost layer of the blood vessel and flowing between the inner and outer vessel walls https://www.cedars-sinai.org/health-library/diseases-and-conditions/a/aortic-intramural-hematoma.html https://www.sciencedirect.com/science/article/pii/S0735109716369054 a developmental change in the timing or rate of events resulting in changes in size or shape to a tissue or anatomical part heterochrony of organs MPheno.ontology MP:0014021 heterochrony MP:0014021 a developmental change in the timing or rate of events resulting in changes in size or shape to a tissue or anatomical part http://www.dictionary.com/browse/heterochrony https://en.wikipedia.org/wiki/Heterochrony abnormal position of the first division of the small intestine that extends from the pyloris to the junction with the jejunum MPheno.ontology MP:0014022 abnormal duodenum topology MP:0014022 abnormal position of the first division of the small intestine that extends from the pyloris to the junction with the jejunum https://orcid.org/0000-0003-3691-0324 different location or arrangement of the digestive tube passing from the stomach to the anus abnormal intestinal location abnormal intestinal placement abnormal intestinal position abnormal intestine location abnormal intestine position MPheno.ontology MP:0014023 abnormal intestine placement MP:0014023 different location or arrangement of the digestive tube passing from the stomach to the anus https://orcid.org/0000-0002-6490-7723 increased amount (usually in grams/cm) of bone mineral divided by a bone-scanned area in the bone region of the epiphysis that provides underlying mechanical and physiological support for the cartilage of joint articular surfaces increased subchondral BMC MPheno.ontology MP:0014024 increased subchondral bone mineral content MP:0014024 increased amount (usually in grams/cm) of bone mineral divided by a bone-scanned area in the bone region of the epiphysis that provides underlying mechanical and physiological support for the cartilage of joint articular surfaces PMID:20392241 https://orcid.org/0000-0003-3691-0324 decreased amount (usually in grams/cm) of bone mineral divided by a bone-scanned area in the bone region of the epiphysis that provides underlying mechanical and physiological support for the cartilage of joint articular surfaces decreased subchondral BMC reduced subchondral bone mineral content MPheno.ontology MP:0014025 decreased subchondral bone mineral content MP:0014025 decreased amount (usually in grams/cm) of bone mineral divided by a bone-scanned area in the bone region of the epiphysis that provides underlying mechanical and physiological support for the cartilage of joint articular surfaces PMID:20392241 https://orcid.org/0000-0003-3691-0324 any anomaly in the directed movement of a substance from one side of the respiratory epithelial cell membrane to the other MPheno.ontology MP:0014026 abnormal respiratory epithelial transmembrane transport MP:0014026 any anomaly in the directed movement of a substance from one side of the respiratory epithelial cell membrane to the other https://orcid.org/0000-0003-3691-0324 any anomaly in the directed movement of a chloride from one side of the respiratory epithelial cell membrane to the other MPheno.ontology MP:0014027 abnormal respiratory epithelial chloride transmembrane transport MP:0014027 any anomaly in the directed movement of a chloride from one side of the respiratory epithelial cell membrane to the other https://orcid.org/0000-0003-3691-0324 decrease in the directed movement of a chloride from one side of the respiratory epithelial cell membrane to the other reduced respiratory epithelial chloride transmembrane transport MPheno.ontology MP:0014028 decreased respiratory epithelial chloride transmembrane transport MP:0014028 decrease in the directed movement of a chloride from one side of the respiratory epithelial cell membrane to the other https://orcid.org/0000-0003-3691-0324 increase in the directed movement of a chloride from one side of the respiratory epithelial cell membrane to the other MPheno.ontology MP:0014029 increased respiratory epithelial chloride transmembrane transport MP:0014029 increase in the directed movement of a chloride from one side of the respiratory epithelial cell membrane to the other https://orcid.org/0000-0003-3691-0324 any functional anomaly of any exocrine gland in which the principal secretory cells are mucus-secreting cells; mucus is a slippery secretion with lubricating or protective function produced by, and covering, mucous membranes; mucous fluid is typically produced from cells found in mucous glands, but may also originate from mixed glands, which contain both serous and mucous cells; mucous cells secrete products that are rich in glycoproteins and water; mucus is a viscous colloid containing antiseptic enzymes (such as lysozyme), immunoglobulins, inorganic salts, proteins such as lactoferrin, and glycoproteins known as mucins that are produced by goblet cells in the mucous membranes and submucosal glands abnormal glandula mucosa physiology abnormal muciparous gland physiology abnormal mucousal gland physiology abnormal mucus-secreting gland physiology MPheno.ontology MP:0014030 abnormal mucous gland physiology MP:0014030 any functional anomaly of any exocrine gland in which the principal secretory cells are mucus-secreting cells; mucus is a slippery secretion with lubricating or protective function produced by, and covering, mucous membranes; mucous fluid is typically produced from cells found in mucous glands, but may also originate from mixed glands, which contain both serous and mucous cells; mucous cells secrete products that are rich in glycoproteins and water; mucus is a viscous colloid containing antiseptic enzymes (such as lysozyme), immunoglobulins, inorganic salts, proteins such as lactoferrin, and glycoproteins known as mucins that are produced by goblet cells in the mucous membranes and submucosal glands UBERON:0000414 http://en.wikipedia.org/wiki/Mucous_gland https://orcid.org/0000-0003-3691-0324 any functional anomaly of the mucous-secreting glands located in the dense irregular connective tissue that lines organs and supports the mucosal membrane MPheno.ontology MP:0014031 abnormal submucosal gland physiology MP:0014031 any functional anomaly of the mucous-secreting glands located in the dense irregular connective tissue that lines organs and supports the mucosal membrane ISBN:0683400088 https://orcid.org/0000-0003-3691-0324 any structural anomaly of any exocrine gland in which the principal secretory cells are mucus-secreting cells; mucus is a slippery secretion with lubricating or protective function produced by, and covering, mucous membranes; mucous glands typically stain lighter than serous glands during standard histological preparation; most are multicellular, but goblet cells are single-celled glands abnormal glandula mucosa morphology abnormal muciparous gland morphology abnormal mucousal gland morphology abnormal mucus-secreting gland mophology MPheno.ontology MP:0014032 abnormal mucous gland morphology MP:0014032 any structural anomaly of any exocrine gland in which the principal secretory cells are mucus-secreting cells; mucus is a slippery secretion with lubricating or protective function produced by, and covering, mucous membranes; mucous glands typically stain lighter than serous glands during standard histological preparation; most are multicellular, but goblet cells are single-celled glands UBERON:0000414 http://en.wikipedia.org/wiki/Mucous_gland https://orcid.org/0000-0003-3691-0324 any structural anomaly of the mucous-secreting glands located in the dense irregular connective tissue that lines organs and supports the mucosal membrane MPheno.ontology MP:0014033 abnormal submucosal gland morphology MP:0014033 any structural anomaly of the mucous-secreting glands located in the dense irregular connective tissue that lines organs and supports the mucosal membrane ISBN:0683400088 https://orcid.org/0000-0003-3691-0324 any anomaly in the secretion of mucous and other substances from a submucosal gland MPheno.ontology MP:0014034 abnormal submucosal gland secretion MP:0014034 any anomaly in the secretion of mucous and other substances from a submucosal gland https://orcid.org/0000-0001-5208-3432 a reduction in the rate or amount of secretion of mucous and other substances from a submucosal gland MPheno.ontology MP:0014035 decreased submucosal gland secretion MP:0014035 a reduction in the rate or amount of secretion of mucous and other substances from a submucosal gland https://orcid.org/0000-0001-5208-3432 obstruction of the intestine due to abnormally thick meconium in the fetus and neonate MPheno.ontology MP:0014036 meconium ileus MP:0014036 obstruction of the intestine due to abnormally thick meconium in the fetus and neonate ISBN:0683400088 difficulty in micturition in which the urine is passed intermittently or drop by drop, and is associated with pain and tenesmus strangury MPheno.ontology MP:0014037 stranguria MP:0014037 difficulty in micturition in which the urine is passed intermittently or drop by drop, and is associated with pain and tenesmus ISBN:0683400088 https://orcid.org/0000-0001-5208-3432 greater than normal number of parenchymal liver cells MPheno.ontology MP:0014038 increased hepatocyte number MP:0014038 greater than normal number of parenchymal liver cells https://orcid.org/0009-0005-7755-8314 deviation from the usual behavior of visiting a shelter or nest used for resting/sleeping abnormal sheltering behaviour MPheno.ontology MP:0014039 abnormal sheltering behavior MP:0014039 deviation from the usual behavior of visiting a shelter or nest used for resting/sleeping MPD:Molly PMID:25264768 greater incidence of cell death following exposure to agents that cause DNA damage MPheno.ontology MP:0014040 increased cellular sensitivity to DNA damaging agents MP:0014040 greater incidence of cell death following exposure to agents that cause DNA damage https://orcid.org/0000-0003-3691-0324 greater incidence of cell death following exposure to cisplatin MPheno.ontology MP:0014041 increased cellular sensitivity to cisplatin MP:0014041 greater incidence of cell death following exposure to cisplatin https://orcid.org/0000-0003-3691-0324 reduced incidence of cell death following exposure to agents that cause DNA damage MPheno.ontology MP:0014042 decreased cellular sensitivity to DNA damaging agents MP:0014042 reduced incidence of cell death following exposure to agents that cause DNA damage https://orcid.org/0000-0003-3691-0324 reduced incidence of cell death following exposure to cisplatin MPheno.ontology MP:0014043 decreased cellular sensitivity to cisplatin MP:0014043 reduced incidence of cell death following exposure to cisplatin https://orcid.org/0000-0003-3691-0324 absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions absent fetal outflow tract absent foetal outflow tract absent heart outflow tract MPheno.ontology MP:0014044 absent cardiac outflow tract MP:0014044 absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions https://orcid.org/0000-0002-6490-7723 stereotypical manifestations of hepatocyte injury that present as cytoplasmic inclusion bodies consisting of intermediate filament components (e.g., modified cytokeratins, chaperones and protein degradation machinery) Mallory body Mallory's hyaline Mallory-Denk bodies Mallory-Denk body MPheno.ontology MP:0014045 Mallory bodies MP:0014045 stereotypical manifestations of hepatocyte injury that present as cytoplasmic inclusion bodies consisting of intermediate filament components (e.g., modified cytokeratins, chaperones and protein degradation machinery) PMID:17531973 PMID:7927209 any anomaly in the autophagic process in which mitochondria are delivered to the vacuole and degraded in response to changing cellular conditions abnormal mitochondrial autophagy abnormal mitochondrion autophagy MPheno.ontology MP:0014046 abnormal mitophagy MP:0014046 any anomaly in the autophagic process in which mitochondria are delivered to the vacuole and degraded in response to changing cellular conditions PMID:22743996 https://orcid.org/0000-0002-6490-7723 any functional anomaly of the regional immune system located in the gut abnormal GALT physiology MPheno.ontology MP:0014047 abnormal gut-associated lymphoid tissue physiology MP:0014047 any functional anomaly of the regional immune system located in the gut ISBN:0-8153-1691-7 any functional anomaly of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles MPheno.ontology MP:0014048 abnormal Peyer's patch physiology MP:0014048 any functional anomaly of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles MESH:A10.549.600 PMID:15841100 an aggressive (fast-growing) type of leukemia (blood cancer) in which too many T-cell lymphoblasts (immature white blood cells) are found in the bone marrow and blood increased T acute lymphoblastic leukaemia incidence increased T acute lymphoblastic leukemia incidence increased T cell acute lymphoblastic leukaemia incidence increased T-ALL incidence increased acute T-cell lymphocytic leukaemia incidence increased acute T-cell lymphocytic leukemia incidence MPheno.ontology MP:0014049 increased T cell acute lymphoblastic leukemia incidence MP:0014049 an aggressive (fast-growing) type of leukemia (blood cancer) in which too many T-cell lymphoblasts (immature white blood cells) are found in the bone marrow and blood NCIT:C3183 an aggressive (fast-growing) type of leukemia (blood cancer) in which too many B-cell lymphoblasts (immature white blood cells) are found in the bone marrow and blood; it is the most common type of acute lymphoblastic leukemia (ALL) increased B acute lymphoblastic leukaemia incidence increased B acute lymphoblastic leukemia incidence increased B cell acute lymphoblastic leukaemia incidence increased B-ALL incidence increased acute B-cell lymphocytic leukaemia incidence increased acute B-cell lymphocytic leukemia incidence MPheno.ontology MP:0014050 increased B cell acute lymphoblastic leukemia incidence MP:0014050 an aggressive (fast-growing) type of leukemia (blood cancer) in which too many B-cell lymphoblasts (immature white blood cells) are found in the bone marrow and blood; it is the most common type of acute lymphoblastic leukemia (ALL) NCIT:C8644 any structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla) abnormal incisive suture morphology abnormal premaxillary suture morphology MPheno.ontology MP:0014051 abnormal maxillary-premaxillary suture morphology MP:0014051 any structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla) ISBN:0683400088 increase in the number of male germ cells undergoing programmed cell death elevated male germ cell apoptosis MPheno.ontology MP:0014052 increased male germ cell apoptosis MP:0014052 increase in the number of male germ cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 hair characterized by the lack of natural or normal moisture MPheno.ontology MP:0014053 dry hair MP:0014053 hair characterized by the lack of natural or normal moisture https://orcid.org/0000-0002-6490-7723 any functional anomaly of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation (holocrine secretion); these cells are most commonly found in the skin in association with hair follicles (forming the pilosebaceous unit), where they arise from hair follicle keratinocytes, but there are also sebaceous glands not associated with a hair follicle; the latter have special functions as secretion of pheromones or corneal protection abnormal acinar cell of sebaceous gland physiology abnormal sebaceous epithelial cell physiology MPheno.ontology MP:0014054 abnormal sebocyte physiology MP:0014054 any functional anomaly of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation (holocrine secretion); these cells are most commonly found in the skin in association with hair follicles (forming the pilosebaceous unit), where they arise from hair follicle keratinocytes, but there are also sebaceous glands not associated with a hair follicle; the latter have special functions as secretion of pheromones or corneal protection PMID:19944183 https://orcid.org/0000-0002-6490-7723 any anomaly in the expansion rate of sebocytes by cell division abnormal sebaceous epithelial cell proliferation abnormal sebaceous gland acinar cell proliferation MPheno.ontology MP:0014055 abnormal sebocyte proliferation MP:0014055 any anomaly in the expansion rate of sebocytes by cell division https://orcid.org/0000-0002-6490-7723 increase in the expansion rate of sebocytes by cell division increased sebaceous epithelial cell proliferation increased sebaceous gland acinar cell proliferation MPheno.ontology MP:0014056 increased sebocyte proliferation MP:0014056 increase in the expansion rate of sebocytes by cell division https://orcid.org/0000-0002-6490-7723 any structural anomaly of the complex non-epithelial mammary gland tissue composed of fibrous connective tissue extracellular matrix (ECM) proteins, and a wide variety of cell types, including inter- and intralobular fibroblasts, adipocytes, endothelial cells, and innate immune cells (both macrophages and mast cells); the mammary gland stroma is the support network for the epithelium, providing both nutrients and blood supply, and immune defenses, as well as physical structure to the gland; each of the different stromal cell types secrete instructive signals that are crucial for various aspects of the development and function of the epithelium abnormal mammary stroma morphology MPheno.ontology MP:0014057 abnormal mammary gland stroma morphology MP:0014057 any structural anomaly of the complex non-epithelial mammary gland tissue composed of fibrous connective tissue extracellular matrix (ECM) proteins, and a wide variety of cell types, including inter- and intralobular fibroblasts, adipocytes, endothelial cells, and innate immune cells (both macrophages and mast cells); the mammary gland stroma is the support network for the epithelium, providing both nutrients and blood supply, and immune defenses, as well as physical structure to the gland; each of the different stromal cell types secrete instructive signals that are crucial for various aspects of the development and function of the epithelium PMID:20702598 any functional anomaly of the complex non-epithelial mammary gland tissue composed of fibrous connective tissue extracellular matrix (ECM) proteins, and a wide variety of cell types, including inter- and intralobular fibroblasts, adipocytes, endothelial cells, and innate immune cells (both macrophages and mast cells); the mammary gland stroma is the support network for the epithelium, providing both nutrients and blood supply, and immune defenses, as well as physical structure to the gland; each of the different stromal cell types secrete instructive signals that are crucial for various aspects of the development and function of the epithelium abnormal mammary stroma physiology MPheno.ontology MP:0014058 abnormal mammary gland stroma physiology MP:0014058 any functional anomaly of the complex non-epithelial mammary gland tissue composed of fibrous connective tissue extracellular matrix (ECM) proteins, and a wide variety of cell types, including inter- and intralobular fibroblasts, adipocytes, endothelial cells, and innate immune cells (both macrophages and mast cells); the mammary gland stroma is the support network for the epithelium, providing both nutrients and blood supply, and immune defenses, as well as physical structure to the gland; each of the different stromal cell types secrete instructive signals that are crucial for various aspects of the development and function of the epithelium PMID:20702598 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments MPheno.ontology MP:0014059 abnormal photoreceptor connecting cilium morphology MP:0014059 any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments GO:0032391 PMID:20212494 any structural anomaly of the most abundant secretory organelle found in blood platelets, and which store adhesive molecules such as von Willebrand factor and fibrinogen, growth factors and inflammatory and angiogenic mediators, which play crucial roles in inflammatory responses and tumor genesis abnormal platelet alpha granule morphology MPheno.ontology MP:0014060 abnormal platelet alpha-granule morphology MP:0014060 any structural anomaly of the most abundant secretory organelle found in blood platelets, and which store adhesive molecules such as von Willebrand factor and fibrinogen, growth factors and inflammatory and angiogenic mediators, which play crucial roles in inflammatory responses and tumor genesis PMID:26391322 the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain; ethmocephaly presents with a proboscis situated above hypoteloric orbits in the midline, microphthalmos, absent nasal structures (arrhinia) and lowset malformed ears MPheno.ontology MP:0014061 ethmocephaly MP:0014061 the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain; ethmocephaly presents with a proboscis situated above hypoteloric orbits in the midline, microphthalmos, absent nasal structures (arrhinia) and lowset malformed ears PMID:23248551 nuclear or cytoplasmic aggregates of stainable substances within cells of the nervous system MPheno.ontology MP:0014062 nervous system inclusion bodies MP:0014062 nuclear or cytoplasmic aggregates of stainable substances within cells of the nervous system https://orcid.org/0000-0003-3691-0324 abnormal presence of insoluble periodic acid-Schiff-positive deposits that contain polyglucosan, a poorly branched form of glycogen, seen in familial myoclonic epilepsy; Lafora bodies develop in many tissues, including muscle, liver, and neurons, but it is generally believed that Lafora body accumulation ultimately leads to neuronal cell death Lafora body accumulation MPheno.ontology MP:0014063 Lafora bodies MP:0014063 abnormal presence of insoluble periodic acid-Schiff-positive deposits that contain polyglucosan, a poorly branched form of glycogen, seen in familial myoclonic epilepsy; Lafora bodies develop in many tissues, including muscle, liver, and neurons, but it is generally believed that Lafora body accumulation ultimately leads to neuronal cell death PMID:20538597 presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue Pick inclusion bodies MPheno.ontology MP:0014064 argyrophilic inclusion bodies MP:0014064 presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue HP:0100317 Intracytoplasmic eosinophilic neuronal inclusions seen especially in pigmented brainstem neurons and in the cortex; brainstem Lewy bodies consist of a dense core surrounded by a halo of 10-nm-wide radiating fibrils, the primary structural component of which is alpha-synuclein; cortical Lewy bodies are also composed of alpha-synuclein fibrils, but are less defined and lack halos; Lewy bodies are seen in Parkinson disease, Lewy body dementia and other forms of dementia MPheno.ontology MP:0014065 Lewy bodies MP:0014065 Intracytoplasmic eosinophilic neuronal inclusions seen especially in pigmented brainstem neurons and in the cortex; brainstem Lewy bodies consist of a dense core surrounded by a halo of 10-nm-wide radiating fibrils, the primary structural component of which is alpha-synuclein; cortical Lewy bodies are also composed of alpha-synuclein fibrils, but are less defined and lack halos; Lewy bodies are seen in Parkinson disease, Lewy body dementia and other forms of dementia ISBN:0683400088 thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders MPheno.ontology MP:0014066 Rosenthal fibers MP:0014066 thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders HP:0100320 eosinophilic intracytoplasmic inclusions which have a highly characteristic crystalloid fine structure; these inclusions occur predominantly in the neuronal processes of the CA1 area in Ammon's horn but have been noted in other areas of the nervous system; these bodies contain epitopes of actin, actin-associated proteins, tau, middle molecular weight neurofilaments subunit and a C-terminal fragment of beta-amyloid precursor protein; these inclusions have been observed in amyotrophic lateral sclerosis and parkinsonism-dementia complex on Guam, Alzheimer's disease, Pick's disease and 'normal' elderly individuals and animal models MPheno.ontology MP:0014067 Hirano bodies MP:0014067 eosinophilic intracytoplasmic inclusions which have a highly characteristic crystalloid fine structure; these inclusions occur predominantly in the neuronal processes of the CA1 area in Ammon's horn but have been noted in other areas of the nervous system; these bodies contain epitopes of actin, actin-associated proteins, tau, middle molecular weight neurofilaments subunit and a C-terminal fragment of beta-amyloid precursor protein; these inclusions have been observed in amyotrophic lateral sclerosis and parkinsonism-dementia complex on Guam, Alzheimer's disease, Pick's disease and 'normal' elderly individuals and animal models PMID:8208338 any anomaly in the concentration of a readily converted carbohydrate reserve in any muscle tissue MPheno.ontology MP:0014068 abnormal muscle glycogen level MP:0014068 any anomaly in the concentration of a readily converted carbohydrate reserve in any muscle tissue https://orcid.org/0000-0002-6490-7723 any anomaly in the normal concentration of a readily converted carbohydrate reserve in skeletal muscle tissue MPheno.ontology MP:0014069 abnormal skeletal muscle glycogen level MP:0014069 any anomaly in the normal concentration of a readily converted carbohydrate reserve in skeletal muscle tissue https://orcid.org/0000-0003-3691-0324 any anomaly in the concentration of a readily converted carbohydrate reserve in heart muscle abnormal cardiomyocyte glycogen level abnormal heart muscle glycogen level abnormal myocardial glycogen level MPheno.ontology MP:0014070 abnormal cardiac muscle glycogen level MP:0014070 any anomaly in the concentration of a readily converted carbohydrate reserve in heart muscle https://orcid.org/0000-0003-3691-0324 greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle increased cardiomyocyte glycogen level increased heart muscle glycogen level increased myocardial glycogen level MPheno.ontology MP:0014071 increased cardiac muscle glycogen level MP:0014071 greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle https://orcid.org/0000-0002-6490-7723 less than the normal concentration of a readily converted carbohydrate reserve in heart muscle decreased cardiomyocyte glycogen level decreased heart muscle glycogen level decreased myocardial glycogen level MPheno.ontology MP:0014072 decreased cardiac muscle glycogen level MP:0014072 less than the normal concentration of a readily converted carbohydrate reserve in heart muscle https://orcid.org/0000-0002-6490-7723 any anomaly in the concentration of a readily converted carbohydrate reserve in brain MPheno.ontology MP:0014073 abnormal brain glycogen level MP:0014073 any anomaly in the concentration of a readily converted carbohydrate reserve in brain https://orcid.org/0000-0002-6490-7723 greater than the normal concentration of a readily converted carbohydrate reserve in brain MPheno.ontology MP:0014074 increased brain glycogen level MP:0014074 greater than the normal concentration of a readily converted carbohydrate reserve in brain https://orcid.org/0000-0002-6490-7723 less than the normal concentration of a readily converted carbohydrate reserve in brain MPheno.ontology MP:0014075 decreased brain glycogen level MP:0014075 less than the normal concentration of a readily converted carbohydrate reserve in brain https://orcid.org/0000-0003-3691-0324 absence or loss of the large secretory cells containing coarse granules normally confined to the base of the crypts of Lieberkuhn in the small intestine absent Davidoff cells absent Paneth granule cells MPheno.ontology MP:0014076 absent Paneth cells MP:0014076 absence or loss of the large secretory cells containing coarse granules normally confined to the base of the crypts of Lieberkuhn in the small intestine https://orcid.org/0000-0002-6490-7723 abnormal position of the large secretory cells containing coarse granules normally confined to the base of the crypts of Lieberkuhn in the small intestine Paneth cell ectopia ectopic Davidoff cells ectopic Paneth granule cells mislocalized Paneth cells MPheno.ontology MP:0014077 ectopic Paneth cells MP:0014077 abnormal position of the large secretory cells containing coarse granules normally confined to the base of the crypts of Lieberkuhn in the small intestine https://orcid.org/0000-0002-6490-7723 erosion or abnormal flattening of the surface secondary to the shortening and blunting of the small intestinal villi; villus atrophy is a non-specific reaction of the intestinal mucosa to a variety of injuries; the pathogenesis is either associated with a hyper-regenerative increase in crypt cell mitoses leading to crypt elongation or it results from hyporegeneration, that is, reduced mitotic rate with shortened crypts atrophic small intestinal villi small intestinal villous atrophy MPheno.ontology MP:0014078 small intestinal villus atrophy MP:0014078 erosion or abnormal flattening of the surface secondary to the shortening and blunting of the small intestinal villi; villus atrophy is a non-specific reaction of the intestinal mucosa to a variety of injuries; the pathogenesis is either associated with a hyper-regenerative increase in crypt cell mitoses leading to crypt elongation or it results from hyporegeneration, that is, reduced mitotic rate with shortened crypts PMID:16679353 https://orcid.org/0000-0002-6490-7723 fewer than normal numbers of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall decreased small intestinal villous number reduced small intestinal villous number reduced small intestinal villus number MPheno.ontology MP:0014079 decreased small intestinal villus number MP:0014079 fewer than normal numbers of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall PMID:16679353 https://orcid.org/0000-0002-6490-7723 partial or complete fusion of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall intestinal villous fusion intestinal villus fusion MPheno.ontology MP:0014080 fused small intestinal villi MP:0014080 partial or complete fusion of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall PMID:16679353 https://orcid.org/0000-0002-6490-7723 atypical formation of branched tree-like structures in the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; branching may occur in association with increased or ectopic epithelial proliferation intestinal villous branching intestinal villus branching MPheno.ontology MP:0014081 branched small intestinal villi MP:0014081 atypical formation of branched tree-like structures in the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; branching may occur in association with increased or ectopic epithelial proliferation PMID:16679353 https://orcid.org/0000-0002-6490-7723 decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hyperplasia decreased small intestinal villous height reduced small intestinal villous height reduced small intestinal villus height shortened small intestinal villi MPheno.ontology MP:0014082 decreased small intestinal villus height MP:0014082 decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hyperplasia PMID:16679353 https://orcid.org/0000-0002-6490-7723 abnormal flattening of the surface of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually due to intestinal damage or injury flattened small intestinal villi intestinal villous blunting intestinal villus blunting MPheno.ontology MP:0014083 blunted small intestinal villi MP:0014083 abnormal flattening of the surface of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually due to intestinal damage or injury PMID:16679353 https://orcid.org/0000-0002-6490-7723 club-shaped small intestinal villi with tips broader than the base; usually accompanied by cytoplasmic swelling and vacuolization club-shaped intestinal villi intestinal villous clubbing intestinal villus clubbing MPheno.ontology MP:0014084 clubbed small intestinal villi MP:0014084 club-shaped small intestinal villi with tips broader than the base; usually accompanied by cytoplasmic swelling and vacuolization PMID:16679353 https://orcid.org/0000-0002-6490-7723 abnormal thickening of the stratum corneum in the stratified squamous epithelium lining the distinct rodent non-glandular region of the stomach, i.e. the forestomach (aka anterior or proximal stomach); hyperkeratosis frequently accompanies epithelial hyperplasia anterior stomach epithelium hyperkeratosis antrum cardiacum epithelium hyperkeratosis forestomach epithelium hyperkeratosis non-glandular stomach epithelium hyperkeratosis proximal stomach epithelium hyperkeratosis stomach cardiac antrum epithelium hyperkeratosis stomach squamous epithelium hyperkeratosis MPheno.ontology MP:0014085 stomach non-glandular epithelium hyperkeratosis MP:0014085 abnormal thickening of the stratum corneum in the stratified squamous epithelium lining the distinct rodent non-glandular region of the stomach, i.e. the forestomach (aka anterior or proximal stomach); hyperkeratosis frequently accompanies epithelial hyperplasia http://ntp.niehs.nih.gov/nnl/alimentary/forestomach/hyperker/stomach-forestomach-hyperkeratosis-pdf_508.pdf https://orcid.org/0000-0002-6490-7723 OBSOLETE. a benign tumor characterized by blood-filled spaces lined by benign endothelial cells MP:0002947 MPheno.ontology MP:0014086 obsolete hemangioma true MP:0014086 OBSOLETE. a benign tumor characterized by blood-filled spaces lined by benign endothelial cells HP:0001028 presence of blood behind the lens retrolental haemorrhage retrolental hemorrhage MPheno.ontology MP:0014087 retrolental blood MP:0014087 presence of blood behind the lens https://orcid.org/0000-0003-3691-0324 any structural anomaly of the thickening of the lower surface of the tectorial membrane into which the hair bundles of the outer hair cells are imbedded MPheno.ontology MP:0014088 abnormal Kimura membrane morphology MP:0014088 any structural anomaly of the thickening of the lower surface of the tectorial membrane into which the hair bundles of the outer hair cells are imbedded PMID:18797289 PMID:24363064 any structural anomaly of the dense thickening of the lateral edge of the tectorial membrane MPheno.ontology MP:0014089 abnormal tectorial membrane marginal band morphology MP:0014089 any structural anomaly of the dense thickening of the lateral edge of the tectorial membrane PMID:18797289 PMID:24363064 any structural anomaly of the anastomosing network of large caliber fibrils that run predominantly longitudinally over the upper surface of the tectorial membrane; in mice, the covernet fibrils are continuous with the underlying striated-sheet matrix of the TM, and appear as electron-dense rods that can be a micron or more in diameter MPheno.ontology MP:0014090 abnormal tectorial membrane covernet morphology MP:0014090 any structural anomaly of the anastomosing network of large caliber fibrils that run predominantly longitudinally over the upper surface of the tectorial membrane; in mice, the covernet fibrils are continuous with the underlying striated-sheet matrix of the TM, and appear as electron-dense rods that can be a micron or more in diameter PMID:18797289 PMID:24363064 any structural anomaly of the laminated, striated-sheet matrix within which collagen fibrils of the TM are imbedded; the striated sheet matrix is formed by two types of fine-diameter collagen filaments, a light and a dark staining type that lie in parallel within the plane of each sheet and are extensively linked along their length by staggered cross bridges; it originates medially within the sulcal zone, extends to the marginal band and is particularly evident in apical regions of the cochlea, where it has a less compressed appearance MPheno.ontology MP:0014091 abnormal tectorial membrane striated-sheet matrix morphology MP:0014091 any structural anomaly of the laminated, striated-sheet matrix within which collagen fibrils of the TM are imbedded; the striated sheet matrix is formed by two types of fine-diameter collagen filaments, a light and a dark staining type that lie in parallel within the plane of each sheet and are extensively linked along their length by staggered cross bridges; it originates medially within the sulcal zone, extends to the marginal band and is particularly evident in apical regions of the cochlea, where it has a less compressed appearance PMID:18797289 PMID:24363064 any structural anomaly of the nonmotile primary cilia that assemble in the normal duct, islet, and centroacinar cells of the pancreas and function in sensing and signal transduction MPheno.ontology MP:0014092 abnormal pancreatic primary cilium morphology MP:0014092 any structural anomaly of the nonmotile primary cilia that assemble in the normal duct, islet, and centroacinar cells of the pancreas and function in sensing and signal transduction PMID:24861006 PMID:24864023 reduced length of the nonmotile primary cilia that are found in the normal duct, islet, and centroacinar cells of the pancreas and function in sensing and signal transduction shortened pancreatic primary cilia shortened pancreatic primary cilium MPheno.ontology MP:0014093 decreased pancreatic primary cilium length MP:0014093 reduced length of the nonmotile primary cilia that are found in the normal duct, islet, and centroacinar cells of the pancreas and function in sensing and signal transduction PMID:24861006 PMID:24864023 reduced number of the nonmotile primary cilia that are found in the normal duct, islet, and centroacinar cells of the pancreas and function in sensing and signal transduction reduced pancreatic primary cilium number MPheno.ontology MP:0014094 decreased pancreatic primary cilium number MP:0014094 reduced number of the nonmotile primary cilia that are found in the normal duct, islet, and centroacinar cells of the pancreas and function in sensing and signal transduction PMID:24861006 PMID:24864023 fewer than the expected number of membrane-bounded, cytoplasmic secretory granules found in pancreatic acinar cells that contain inactive digestive enzyme precursors reduced pancreatic acinar cell zymogen granule number MPheno.ontology MP:0014095 decreased pancreatic acinar cell zymogen granule number MP:0014095 fewer than the expected number of membrane-bounded, cytoplasmic secretory granules found in pancreatic acinar cells that contain inactive digestive enzyme precursors https://orcid.org/0000-0003-3691-0324 anomaly in the production and/or release of alpha-amylase, the main starch digesting enzyme component of pancreatic juice, from the acinar cells of the exocrine pancreas; pancreatic alpha-amylase is released into pancreatic ducts in its active form and acts at random locations along the starch chain to break down long-chain carbohydrates, ultimately yielding maltotriose and maltose from amylose, or maltose, glucose and limit dextrin from amylopectin abnormal pancreatic alpha-amylase secretion MPheno.ontology MP:0014096 Amylase is present in salivary gland secretions and in pancreatic acinar cell secretions in most mammals. abnormal pancreatic amylase secretion MP:0014096 anomaly in the production and/or release of alpha-amylase, the main starch digesting enzyme component of pancreatic juice, from the acinar cells of the exocrine pancreas; pancreatic alpha-amylase is released into pancreatic ducts in its active form and acts at random locations along the starch chain to break down long-chain carbohydrates, ultimately yielding maltotriose and maltose from amylose, or maltose, glucose and limit dextrin from amylopectin http://en.wikipedia.org/wiki/Amylase http://www.newworldencyclopedia.org/entry/Pancreas greater production and/or release of alpha-amylase, the main starch digesting enzyme component of pancreatic juice, from the acinar cells of the exocrine pancreas; pancreatic alpha-amylase is released into pancreatic ducts in its active form and acts at random locations along the starch chain to break down long-chain carbohydrates, ultimately yielding maltotriose and maltose from amylose, or maltose, glucose and limit dextrin from amylopectin increased pancreatic alpha-amylase secretion MPheno.ontology MP:0014097 Amylase is present in salivary gland secretions and in pancreatic acinar cell secretions in most mammals. increased pancreatic amylase secretion MP:0014097 greater production and/or release of alpha-amylase, the main starch digesting enzyme component of pancreatic juice, from the acinar cells of the exocrine pancreas; pancreatic alpha-amylase is released into pancreatic ducts in its active form and acts at random locations along the starch chain to break down long-chain carbohydrates, ultimately yielding maltotriose and maltose from amylose, or maltose, glucose and limit dextrin from amylopectin http://en.wikipedia.org/wiki/Amylase http://www.newworldencyclopedia.org/entry/Pancreas reduction in the production and/or release of alpha-amylase, the main starch digesting enzyme component of pancreatic juice, from the acinar cells of the exocrine pancreas; pancreatic alpha-amylase is released into pancreatic ducts in its active form and acts at random locations along the starch chain to break down long-chain carbohydrates, ultimately yielding maltotriose and maltose from amylose, or maltose, glucose and limit dextrin from amylopectin decreased pancreatic alpha-amylase secretion reduced pancreatic alpha-amylase secretion MPheno.ontology MP:0014098 Amylase is present in salivary gland secretions and in pancreatic acinar cell secretions in most mammals. decreased pancreatic amylase secretion MP:0014098 reduction in the production and/or release of alpha-amylase, the main starch digesting enzyme component of pancreatic juice, from the acinar cells of the exocrine pancreas; pancreatic alpha-amylase is released into pancreatic ducts in its active form and acts at random locations along the starch chain to break down long-chain carbohydrates, ultimately yielding maltotriose and maltose from amylose, or maltose, glucose and limit dextrin from amylopectin http://en.wikipedia.org/wiki/Amylase http://www.newworldencyclopedia.org/entry/Pancreas any anomaly in multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population abnormal cartilage cell proliferation abnormal chondrocyte cell proliferation MPheno.ontology MP:0014099 abnormal chondrocyte proliferation MP:0014099 any anomaly in multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population GO:0035988 increased amount of multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population increased cartilage cell proliferation increased chondrocyte cell proliferation MPheno.ontology MP:0014100 increased chondrocyte proliferation MP:0014100 increased amount of multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population GO:0035988 decreased amount of multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population decreased cartilage cell proliferation decreased chondrocyte cell proliferation MPheno.ontology MP:0014101 decreased chondrocyte proliferation MP:0014101 decreased amount of multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population GO:0035988 change in the timing or the number of chondrocytes undergoing programmed cell death abnormal cartilage cell apoptosis abnormal chondrocyte cell apoptosis MPheno.ontology MP:0014102 abnormal chondrocyte apoptosis MP:0014102 change in the timing or the number of chondrocytes undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 increased number of chondrocytes undergoing programmed cell death increased cartilage cell apoptosis increased chondrocyte cell apoptosis MPheno.ontology MP:0014103 increased chondrocyte apoptosis MP:0014103 increased number of chondrocytes undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 reduced number of chondrocytes undergoing programmed cell death decreased cartilage cell apoptosis decreased chondrocyte cell apoptosis MPheno.ontology MP:0014104 decreased chondrocyte apoptosis MP:0014104 reduced number of chondrocytes undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 any anomaly in the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte abnormal cartilage cell differentiation abnormal chondrocyte cell differentiation MPheno.ontology MP:0014105 abnormal chondrocyte differentiation MP:0014105 any anomaly in the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte GO:0002062 delay in the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte delayed cartilage cell differentiation delayed chondrocyte cell differentiation MPheno.ontology MP:0014106 delayed chondrocyte differentiation MP:0014106 delay in the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte GO:0002062 early occurance of the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte premature cartilage cell differentiation premature chondrocyte cell differentiation MPheno.ontology MP:0014107 premature chondrocyte differentiation MP:0014107 early occurance of the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte GO:0002062 pathologic deposition of calcium salts in the pancreas; commonly seen in chronic pancreatitis pancreas calcification pancreatic calcification MPheno.ontology MP:0014108 calcified pancreas MP:0014108 pathologic deposition of calcium salts in the pancreas; commonly seen in chronic pancreatitis https://orcid.org/0000-0002-6490-7723 increase in the ability of the glucagon-producing cells of the islets of Langerhans in the endocrine pancreas to undergo expansion by cell division increased glucagon-secreting cell proliferation increased pancreatic A cell proliferation MPheno.ontology MP:0014109 increased pancreatic alpha cell proliferation MP:0014109 increase in the ability of the glucagon-producing cells of the islets of Langerhans in the endocrine pancreas to undergo expansion by cell division https://orcid.org/0000-0002-6490-7723 absence of the transient embryonic structure that fuses with the dorsal pancreas during development to form a single organ; the ventral pancreatic bud gives rise to the pancreatic head and uncinate process absent ventral pancreatic anlagen absent ventral pancreatic bud ventral pancreatic bud agenesis MPheno.ontology MP:0014110 absent ventral pancreas MP:0014110 absence of the transient embryonic structure that fuses with the dorsal pancreas during development to form a single organ; the ventral pancreatic bud gives rise to the pancreatic head and uncinate process PMID:23909279 reduced size of the transient embryonic structure that fuses with the dorsal pancreas during development to form a single organ; the ventral pancreatic bud gives rise to the pancreatic head and uncinate process small ventral pancreatic bud MPheno.ontology MP:0014111 small ventral pancreas MP:0014111 reduced size of the transient embryonic structure that fuses with the dorsal pancreas during development to form a single organ; the ventral pancreatic bud gives rise to the pancreatic head and uncinate process PMID:23909279 absence of the transient embryonic structure that fuses with the ventral pancreas during development to form a single organ; the dorsal pancreatic bud gives rise to the body, tail, and isthmus of the pancreas absent dorsal pancreatic anlagen absent dorsal pancreatic bud dorsal pancreatic bud agenesis MPheno.ontology MP:0014112 absent dorsal pancreas MP:0014112 absence of the transient embryonic structure that fuses with the ventral pancreas during development to form a single organ; the dorsal pancreatic bud gives rise to the body, tail, and isthmus of the pancreas PMID:23909279 reduced size of the transient embryonic structure that fuses with the ventral pancreas during development to form a single organ; the dorsal pancreatic bud gives rise to the body, tail, and isthmus of the pancreas decreased dorsal pancreatic anlagen size decreased dorsal pancreatic bud size reduced dorsal pancreatic anlagen size reduced dorsal pancreatic bud size MPheno.ontology MP:0014113 small dorsal pancreas MP:0014113 reduced size of the transient embryonic structure that fuses with the ventral pancreas during development to form a single organ; the dorsal pancreatic bud gives rise to the body, tail, and isthmus of the pancreas PMID:23909279 any anomaly in the operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory MPheno.ontology MP:0014114 abnormal cognition MP:0014114 any anomaly in the operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory GO:0050890 inability to change attention or a cognitive behavior as an adaptation to the demands of external stimuli behavioral inflexibility behavioural inflexibility impaired attention switching impaired mental flexibility impaired task switching behavior impaired task switching behaviour MPheno.ontology MP:0014115 cognitive inflexibility MP:0014115 inability to change attention or a cognitive behavior as an adaptation to the demands of external stimuli PMID:26112128 change in the timing or the number of pancreatic beta cells undergoing programmed cell death MPheno.ontology MP:0014116 abnormal pancreatic beta cell apoptosis MP:0014116 change in the timing or the number of pancreatic beta cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increase in the number of pancreatic beta cells undergoing programmed cell death MPheno.ontology MP:0014117 increased pancreatic beta cell apoptosis MP:0014117 increase in the number of pancreatic beta cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 decrease in the number of pancreatic beta cells undergoing programmed cell death reduced pancreatic beta cell apoptosis MPheno.ontology MP:0014118 decreased pancreatic beta cell apoptosis MP:0014118 decrease in the number of pancreatic beta cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 any changes in the placement, morphology or number of mandibular nerve fibers providing motor and sensory nerve supply from the auricle, the external acoustic meatus, tympanic membrane, temporal region, the cheek, the skin overlying the mandible, the anterior portion of the tongue, the floor of the mouth, lower teeth and gingiva and transmits motor information from the muscles of mastication, the mylohyoid muscle and digastric muscle and the muscles tensor tympani and tensor veli palatini MPheno.ontology MP:0014119 abnormal mandibular nerve innervation pattern MP:0014119 any changes in the placement, morphology or number of mandibular nerve fibers providing motor and sensory nerve supply from the auricle, the external acoustic meatus, tympanic membrane, temporal region, the cheek, the skin overlying the mandible, the anterior portion of the tongue, the floor of the mouth, lower teeth and gingiva and transmits motor information from the muscles of mastication, the mylohyoid muscle and digastric muscle and the muscles tensor tympani and tensor veli palatini ISBN:0683400088 seizures characterized by localized cerebral ictal onset localized seizures partial seizure MPheno.ontology MP:0014120 focal seizures MP:0014120 seizures characterized by localized cerebral ictal onset ISBN:0683400088 increase in the number of pancreatic islet cells undergoing programmed cell death MPheno.ontology MP:0014121 increased pancreatic islet cell apoptosis MP:0014121 increase in the number of pancreatic islet cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 decrease in the number of pancreatic islet cells undergoing programmed cell death reduced pancreatic islet cell apoptosis MPheno.ontology MP:0014122 decreased pancreatic islet cell apoptosis MP:0014122 decrease in the number of pancreatic islet cells undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 any anomaly in the production or release of the polypeptide hormone that is co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety agent abnormal IAPP secretion abnormal islet amyloid polypeptide secretion MPheno.ontology MP:0014123 abnormal amylin secretion MP:0014123 any anomaly in the production or release of the polypeptide hormone that is co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety agent http://www.ajpcr.com/Vol6Issue1/1462.pdf greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety agent increased IAPP secretion increased islet amyloid polypeptide secretion MPheno.ontology MP:0014124 increased amylin secretion MP:0014124 greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety agent http://www.ajpcr.com/Vol6Issue1/1462.pdf reduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety agent decreased IAPP secretion decreased islet amyloid polypeptide secretion reduced IAPP secretion reduced islet amyloid polypeptide secretion MPheno.ontology MP:0014125 decreased amylin secretion MP:0014125 reduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety agent http://www.ajpcr.com/Vol6Issue1/1462.pdf increase in the number of any cells of a mammary gland undergoing programmed cell death MPheno.ontology MP:0014126 increased mammary gland apoptosis MP:0014126 increase in the number of any cells of a mammary gland undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseases MPheno.ontology thymoma MP:0014127 increased thymoma incidence MP:0014127 greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseases http://medical-dictionary.thefreedictionary.com/thymoma http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1#_139 greater than the expected number of a malignant neoplasm of acinar epithelial cells in the Harderian gland, occurring in a specific population in a given time period; these usually are larger than adenomas and may cause facial selling and/or exophthalmos; they are highly cellular and disorganized compared to adenomas, with piling up of pleomorphic cells; areas of medullary or solid growth patterns are common; there may necrosis or hemorrhage, invasion beyond the orbit, and distant metastasis to the lungs, local lymph nodes, thymus or liver MPheno.ontology Harderian adenocarcinoma Harderian gland adenocarcinoma MP:0014128 increased Harderian gland adenocarcinoma incidence MP:0014128 greater than the expected number of a malignant neoplasm of acinar epithelial cells in the Harderian gland, occurring in a specific population in a given time period; these usually are larger than adenomas and may cause facial selling and/or exophthalmos; they are highly cellular and disorganized compared to adenomas, with piling up of pleomorphic cells; areas of medullary or solid growth patterns are common; there may necrosis or hemorrhage, invasion beyond the orbit, and distant metastasis to the lungs, local lymph nodes, thymus or liver ISBN:0080467717 invasion of fibrous connective tissue into the thymus, often resulting from inflammation or injury thymic fibrosis MPheno.ontology MP:0014129 thymus fibrosis MP:0014129 invasion of fibrous connective tissue into the thymus, often resulting from inflammation or injury https://orcid.org/0000-0002-6490-7723 presence of one or more fluid-filled spaces lined by epithelium within the thymus cystic thymus thymic cyst thymic cysts thymus cysts MPheno.ontology MP:0014130 Thymic cysts are rare mediastinal lesions and are thought to result from the congenital persistence of thymopharyngeal tracts and acquired, progressive cystic degeneration of thymic (Hassall) corpuscles and epithelial reticulum of the thymus; congenital cysts are unilocular, whereas acquired cysts are usually multilocular and result as a consequence of inflammatory processes. thymus cyst MP:0014130 presence of one or more fluid-filled spaces lined by epithelium within the thymus PMID:23050117 http://www.pedsradiology.com/historyanswer.aspx?qid=408&fid=1 any alteration in the structure, biochemical composition, or stability of the thin acellular fluid layer that adheres to the most superficial layer of the corneal epithelium and lubricates and protects the ocular surface; the film is generally composed of three layers: (i) an inner mucous layer, secreted largely by the conjunctival goblet cells with contributions from the lacrimal glands, which coats the cornea, provides a hydrophobic layer, and allows for even distribution of the tear film; (ii) a middle aqueous layer, secreted by the lacrimal glands, which keeps the corneal surface moist, and provides a mechanism for oxygenation and nutrient exchange with the avascular anterior corneal tissue; and (iii) an outer lipid layer, secreted principally by the Meibomian (tarsal) glands although lipid tear elements also are contributed by the Harderian glands; tear film lipids form a monolayer on the tear surface, and function by enhancing the surface tension which supports the integrity of the tear film against collapse due to gravity and also slows down the loss of the tear film by evaporation; in addition , the lipid layer provides a glassy, smooth interface between the air and the transparent cornea abnormal precorneal film morphology MPheno.ontology MP:0014131 abnormal tear film morphology MP:0014131 any alteration in the structure, biochemical composition, or stability of the thin acellular fluid layer that adheres to the most superficial layer of the corneal epithelium and lubricates and protects the ocular surface; the film is generally composed of three layers: (i) an inner mucous layer, secreted largely by the conjunctival goblet cells with contributions from the lacrimal glands, which coats the cornea, provides a hydrophobic layer, and allows for even distribution of the tear film; (ii) a middle aqueous layer, secreted by the lacrimal glands, which keeps the corneal surface moist, and provides a mechanism for oxygenation and nutrient exchange with the avascular anterior corneal tissue; and (iii) an outer lipid layer, secreted principally by the Meibomian (tarsal) glands although lipid tear elements also are contributed by the Harderian glands; tear film lipids form a monolayer on the tear surface, and function by enhancing the surface tension which supports the integrity of the tear film against collapse due to gravity and also slows down the loss of the tear film by evaporation; in addition , the lipid layer provides a glassy, smooth interface between the air and the transparent cornea ISBN:0124157653 http://en.wikipedia.org/wiki/Tears any functional anomaly of the thin acelullar fluid layer that covers the anterior surface of the mammalian eye and has a variety of constituents that are essential for the maintenance of the avascular transparent corneal epithelium; this film keeps the cornea wet, thus allowing gas exchange between the air and the epithelium, it cleans debris from the transparent surface, providing a clear optical path to the retina, and protects the ocular surface from invasion by bacteria and viruses; the tear film also provides essential metabolites such as retinol, which serves to preserve the transparent nature of the epithelium abnormal precorneal film physiology MPheno.ontology MP:0014132 abnormal tear film physiology MP:0014132 any functional anomaly of the thin acelullar fluid layer that covers the anterior surface of the mammalian eye and has a variety of constituents that are essential for the maintenance of the avascular transparent corneal epithelium; this film keeps the cornea wet, thus allowing gas exchange between the air and the epithelium, it cleans debris from the transparent surface, providing a clear optical path to the retina, and protects the ocular surface from invasion by bacteria and viruses; the tear film also provides essential metabolites such as retinol, which serves to preserve the transparent nature of the epithelium PMID:11390770 any anomaly in propensity to attribute motivational properties to stimuli which predict reward; critical component of drug addition MPheno.ontology MP:0014133 Withdrawn one day after initial request at submitter request obsolete abnormal Pavlovian conditioned approach true MP:0014133 any anomaly in propensity to attribute motivational properties to stimuli which predict reward; critical component of drug addition MPD:Molly any structural anomaly of an embryo MPheno.ontology MP:0014134 abnormal embryo morphology MP:0014134 any structural anomaly of an embryo https://orcid.org/0000-0003-3691-0324 any structural anomaly of the mesoderm of the extraembryonic tissue that is involved in forming the amnion, chorion, yolk sac, and body stalk MPheno.ontology MP:0014135 abnormal extraembryonic mesoderm morphology MP:0014135 any structural anomaly of the mesoderm of the extraembryonic tissue that is involved in forming the amnion, chorion, yolk sac, and body stalk ISBN:0803606559 any structural anomaly of the derivative of the hypoblast cells that migrate into the blastocyst cavity, and line the cavity, giving rise to the primary and definitive yolk sacs; the extraembryonic endoderm fills the remaining cavity of the blastocyst MPheno.ontology MP:0014136 abnormal extraembryonic endoderm morphology MP:0014136 any structural anomaly of the derivative of the hypoblast cells that migrate into the blastocyst cavity, and line the cavity, giving rise to the primary and definitive yolk sacs; the extraembryonic endoderm fills the remaining cavity of the blastocyst http://discovery.lifemapsc.com/in-vivo-development/hypoblast/extraembryonic-endoderm any structural anomaly of an embryo between fertilization and implantation abnormal pre-implantation embryo morphology MPheno.ontology MP:0014137 abnormal preimplantation embryo morphology MP:0014137 any structural anomaly of an embryo between fertilization and implantation https://orcid.org/0000-0002-6490-7723 any structural anomaly of the layer of cells produced during the process of gastrulation during the early development of the animal embryo, which is distinct from other such layers of cells, as an early step of cell differentiation MPheno.ontology MP:0014138 abnormal germ layer morphology MP:0014138 any structural anomaly of the layer of cells produced during the process of gastrulation during the early development of the animal embryo, which is distinct from other such layers of cells, as an early step of cell differentiation ISBN:0-683-40008-8 primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue abnormal germinal layer morphology MPheno.ontology MP:0014139 abnormal ectoderm morphology MP:0014139 primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue UBERON:0000924 any structural anomaly of the primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut MPheno.ontology MP:0014140 abnormal endoderm morphology MP:0014140 any structural anomaly of the primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut UBERON:0000925 any structural anomaly of the middle germ layer of the embryo, between the endoderm and ectoderm MPheno.ontology MP:0014141 abnormal mesoderm morphology MP:0014141 any structural anomaly of the middle germ layer of the embryo, between the endoderm and ectoderm UBERON:0000926 increased physical bulk or volume of fat in the whole body MPheno.ontology MP:0014142 increased body fat mass MP:0014142 increased physical bulk or volume of fat in the whole body https://orcid.org/0000-0003-3691-0324 decreased physical bulk or volume of fat in the whole body MPheno.ontology MP:0014143 decreased body fat mass MP:0014143 decreased physical bulk or volume of fat in the whole body https://orcid.org/0000-0003-3691-0324 aberrant physical bulk or volume of white adipose tissue MPheno.ontology MP:0014144 abnormal white adipose tissue mass MP:0014144 aberrant physical bulk or volume of white adipose tissue https://orcid.org/0000-0003-3691-0324 increased physical bulk or volume of white adipose tissue MPheno.ontology MP:0014145 increased white adipose tissue mass MP:0014145 increased physical bulk or volume of white adipose tissue https://orcid.org/0000-0003-3691-0324 decreasd physical bulk or volume of white adipose tissue reduced white adipose tissue mass MPheno.ontology MP:0014146 decreased white adipose tissue mass MP:0014146 decreasd physical bulk or volume of white adipose tissue https://orcid.org/0000-0003-3691-0324 morphological changes resulting from pathological death of lacrimal gland tissue; usually due to irreversible damage lachrymal gland necrosis necrotic lachrymal gland necrotic lachrymal glands necrotic lacrimal gland necrotic lacrimal glands MPheno.ontology MP:0014147 lacrimal gland necrosis MP:0014147 morphological changes resulting from pathological death of lacrimal gland tissue; usually due to irreversible damage https://orcid.org/0000-0002-6490-7723 a retrogressive impairment of function or destruction of the tubuloacinar exocrine glands that secrete the aqueous layer of the tear film (tears); mice have two lacrimal glands (intra- and exorbital) lachrymal gland degeneration MPheno.ontology MP:0014148 lacrimal gland degeneration MP:0014148 a retrogressive impairment of function or destruction of the tubuloacinar exocrine glands that secrete the aqueous layer of the tear film (tears); mice have two lacrimal glands (intra- and exorbital) https://orcid.org/0000-0002-6490-7723 any structural or position anomaly of the supply of nerve fibers that connect to the tubuloacinar exocrine glands that secrete the aqueous layer of the tear film (tears) MPheno.ontology MP:0014149 abnormal lacrimal gland innervation pattern MP:0014149 any structural or position anomaly of the supply of nerve fibers that connect to the tubuloacinar exocrine glands that secrete the aqueous layer of the tear film (tears) https://en.wikipedia.org/wiki/Lacrimal_gland https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the lacrimal gland, typically resulting in increased size hyperplastic lachrymal glands hyperplastic lacrimal glands lachrymal gland hyperplasia MPheno.ontology MP:0014150 lacrimal gland hyperplasia MP:0014150 increase in the number of normal cells in normal arrangement in the lacrimal gland, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the lacrimal gland, typically resulting in decreased size hypoplastic lacrimal gland MPheno.ontology MP:0014151 lacrimal gland hypoplasia MP:0014151 decrease in the number of normal cells in normal arrangement in the lacrimal gland, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland absent exorbital lachrymal gland absent extra-orbital lachrymal gland absent extra-orbital lacrimal gland MPheno.ontology MP:0014152 absent exorbital lacrimal gland MP:0014152 absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland https://orcid.org/0000-0002-6490-7723 absence of the small intra-orbital lacrimal gland that, in mice, is normally located superficially at the lateral canthus, where both the lacrimal gland and Harderian gland ducts open absent intra-orbital lachrymal gland absent intra-orbital lacrimal gland absent intraorbital lachrymal gland MPheno.ontology MP:0014153 absent intraorbital lacrimal gland MP:0014153 absence of the small intra-orbital lacrimal gland that, in mice, is normally located superficially at the lateral canthus, where both the lacrimal gland and Harderian gland ducts open https://orcid.org/0000-0002-6490-7723 a retrogressive impairment of function or destruction of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate tarsal gland degeneration MPheno.ontology MP:0014154 Meibomian gland degeneration MP:0014154 a retrogressive impairment of function or destruction of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate ISBN:0-683-40008-8 absence of the epithelial cells that line the interior of the nose absent nasal epithelium MPheno.ontology MP:0014155 absent olfactory epithelium MP:0014155 absence of the epithelial cells that line the interior of the nose https://orcid.org/0000-0003-3691-0324 any structural anomaly of the stellate-shaped contractile cells with flattened nuclei and long slender processes that surround the secretory acini and intralobular ducts of the lacrimal gland, located between the epithelium and the basement membrane; myoepithelial cells not only exhibit characteristics of other epithelial cells, such as expression of cytokeratin, but also exhibit properties of smooth muscle cells, such as expression of alpha-smooth muscle actin; their contraction might aid in the expulsion of fluid out of the secretory tubules or help maintain the patency of acinar and ductal lumens abnormal lacrimal gland myoepithelial cell morphology abnormal lacrimal myoepithelium morphology abnormal lacrymal gland myoepithelial cell morphology abnormal lacrymal gland myoepithelium morphology abnormal lacrymal myoepithelium morphology MPheno.ontology MP:0014156 abnormal lacrimal gland myoepithelium morphology MP:0014156 any structural anomaly of the stellate-shaped contractile cells with flattened nuclei and long slender processes that surround the secretory acini and intralobular ducts of the lacrimal gland, located between the epithelium and the basement membrane; myoepithelial cells not only exhibit characteristics of other epithelial cells, such as expression of cytokeratin, but also exhibit properties of smooth muscle cells, such as expression of alpha-smooth muscle actin; their contraction might aid in the expulsion of fluid out of the secretory tubules or help maintain the patency of acinar and ductal lumens ISBN:0123820081 ISBN:0123820421 ISBN:0781742064 absence of tear production; may occur in association with other disorders or as an isolated congenital defect absence of lachrymal fluids absence of lacrimal fluids absence of tear secretion absence of tears MPheno.ontology MP:0014157 alacrima MP:0014157 absence of tear production; may occur in association with other disorders or as an isolated congenital defect https://orcid.org/0000-0002-6490-7723 invasion of fibrous connective tissue into the esophagus, often resulting from inflammation or injury esophageal fibrosis oesophageal fibrosis oesophagus fibrosis MPheno.ontology MP:0014158 esophagus fibrosis MP:0014158 invasion of fibrous connective tissue into the esophagus, often resulting from inflammation or injury https://orcid.org/0000-0002-6490-7723 invasion of fibrous connective tissue into the stomach, often resulting from inflammation or injury gastric fibrosis MPheno.ontology MP:0014159 stomach fibrosis MP:0014159 invasion of fibrous connective tissue into the stomach, often resulting from inflammation or injury https://orcid.org/0000-0003-3691-0324 any anomaly in the blood concentration of the principal glucocorticoid produced by the zona fasciculata of the adrenal cortex within the adrenal gland; cortisol is released in response to stress and a low level of blood glucose; it functions to increase blood sugar through gluconeogenesis, to suppress the immune system, and to aid the metabolism of fat, protein, and carbohydrate; it also decreases bone formation MPheno.ontology MP:0014160 abnormal circulating cortisol level MP:0014160 any anomaly in the blood concentration of the principal glucocorticoid produced by the zona fasciculata of the adrenal cortex within the adrenal gland; cortisol is released in response to stress and a low level of blood glucose; it functions to increase blood sugar through gluconeogenesis, to suppress the immune system, and to aid the metabolism of fat, protein, and carbohydrate; it also decreases bone formation https://en.wikipedia.org/wiki/Cortisol greater than the normal blood concentration of the principal glucocorticoid produced by the zona fasciculata of the adrenal cortex within the adrenal gland and released in response to stress and a low level of blood glucose increased plasma cortisol level increased serum cortisol level MPheno.ontology MP:0014161 increased circulating cortisol level MP:0014161 greater than the normal blood concentration of the principal glucocorticoid produced by the zona fasciculata of the adrenal cortex within the adrenal gland and released in response to stress and a low level of blood glucose https://en.wikipedia.org/wiki/Cortisol less than the normal blood concentration of the principal glucocorticoid produced by the zona fasciculata of the adrenal cortex within the adrenal gland and released in response to stress and a low level of blood glucose decreased plasma cortisol level decreased serum cortisol level MPheno.ontology MP:0014162 decreased circulating cortisol level MP:0014162 less than the normal blood concentration of the principal glucocorticoid produced by the zona fasciculata of the adrenal cortex within the adrenal gland and released in response to stress and a low level of blood glucose https://en.wikipedia.org/wiki/Cortisol any structural anomaly of the ring of smooth muscle in the eye's vascular layer that forms the main part of the ciliary body, controls accommodation for viewing objects at varying distances, and regulates the flow of aqueous humor into the canal of Schlemm MPheno.ontology MP:0014163 abnormal ciliary muscle morphology MP:0014163 any structural anomaly of the ring of smooth muscle in the eye's vascular layer that forms the main part of the ciliary body, controls accommodation for viewing objects at varying distances, and regulates the flow of aqueous humor into the canal of Schlemm http://medical-dictionary.thefreedictionary.com/ciliary+muscle https://en.wikipedia.org/wiki/Ciliary_muscle any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the external border of the iris, and together with the folds (plicae) in the furrows between them, constitute the corona ciliaris; ciliary processes produce aqueous humor abnormal processus ciliaris morphology MPheno.ontology MP:0014164 abnormal ciliary process morphology MP:0014164 any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the external border of the iris, and together with the folds (plicae) in the furrows between them, constitute the corona ciliaris; ciliary processes produce aqueous humor http://www.medilexicon.com/medicaldictionary.php?s=processus+ciliaris absence or loss of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; ciliary processes produce aqueous humor MPheno.ontology MP:0014165 absent ciliary process MP:0014165 absence or loss of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; ciliary processes produce aqueous humor https://orcid.org/0000-0002-6490-7723 the appearance of an extra bone structure at an atypical location in or near the cranium MPheno.ontology MP:0014166 ectopic cranial bone MP:0014166 the appearance of an extra bone structure at an atypical location in or near the cranium https://orcid.org/0000-0003-3691-0324 the appearance of an extra bone structure at an atypical location MPheno.ontology MP:0014167 ectopic bone MP:0014167 the appearance of an extra bone structure at an atypical location https://orcid.org/0000-0003-3691-0324 aberrant physical bulk or volume of brown adipose tissue MPheno.ontology MP:0014168 abnormal brown adipose tissue mass MP:0014168 aberrant physical bulk or volume of brown adipose tissue https://orcid.org/0000-0003-3691-0324 decreased physical bulk or volume of brown adipose tissue reduced brown adipose tissue mass MPheno.ontology MP:0014169 decreased brown adipose tissue mass MP:0014169 decreased physical bulk or volume of brown adipose tissue https://orcid.org/0000-0003-3691-0324 increased physical bulk or volume of brown adipose tissue MPheno.ontology MP:0014170 increased brown adipose tissue mass MP:0014170 increased physical bulk or volume of brown adipose tissue https://orcid.org/0000-0003-3691-0324 increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen MPheno.ontology MP:0014171 increased fatty acid oxidation MP:0014171 increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen GO:0019395 decreased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen MPheno.ontology MP:0014172 decreased fatty acid oxidation MP:0014172 decreased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen GO:0019395 increased rate or incidence of the process that results in the complete oxidation of a long-chain fatty acid, beginning with the addition of coenzyme A to a fatty acid, with successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively) MPheno.ontology MP:0014173 increased fatty acid beta-oxidation MP:0014173 increased rate or incidence of the process that results in the complete oxidation of a long-chain fatty acid, beginning with the addition of coenzyme A to a fatty acid, with successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively) GO:0006635 decreased rate or incidence of the process that results in the complete oxidation of a long-chain fatty acid, beginning with the addition of coenzyme A to a fatty acid, with successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively) MPheno.ontology MP:0014174 decreased fatty acid beta-oxidation MP:0014174 decreased rate or incidence of the process that results in the complete oxidation of a long-chain fatty acid, beginning with the addition of coenzyme A to a fatty acid, with successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively) GO:0006635 any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of low cuboidal cells and is adjacent to the stroma and continuous with the retinal pigmented epithelium; the inner layer is formed by non-pigmented epithelium, a columnar epithelium, adjacent to the aqueous humor in the posterior chamber and continuous with the retina; these two layers of the epithelium are appositioned in their apical surfaces abnormal ciliary body epithelium morphology abnormal epithelium of ciliary body morphology abnormal ocular ciliary epithelium morphology MPheno.ontology MP:0014175 abnormal ciliary epithelium morphology MP:0014175 any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of low cuboidal cells and is adjacent to the stroma and continuous with the retinal pigmented epithelium; the inner layer is formed by non-pigmented epithelium, a columnar epithelium, adjacent to the aqueous humor in the posterior chamber and continuous with the retina; these two layers of the epithelium are appositioned in their apical surfaces http://cdn.intechopen.com/pdfs-wm/41830.pdf any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigmented ciliary epithelium; this fibrous rigging ensures lens centration; in species that accommodate, the zonule transmits the forces that flatten the lens, allowing the eye to focus on distant objects abnormal Zinn zonule morphology abnormal Zinn's zonule morphology abnormal apparatus suspensorius lentis morphology abnormal suspensory ligament of lens morphology abnormal zonula ciliaris morphology MPheno.ontology MP:0014176 abnormal cilary zonule morphology MP:0014176 any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigmented ciliary epithelium; this fibrous rigging ensures lens centration; in species that accommodate, the zonule transmits the forces that flatten the lens, allowing the eye to focus on distant objects PMID:23493297 PMID:24908666 any structural anomaly of the lingual glands located on the lateral margins of the tongue, at the level of the foliate papillae and in the root of the tongue behind the circumvallate papillae; in humans, the ducts of posterior superficial lingual glands open into the crypts of lingual tonsils; mucous supplied by these glands may help to cleanse the crypts and aid in deglutition abnormal posterior superficial lingual gland morphology MPheno.ontology MP:0014177 abnormal Weber's gland morphology MP:0014177 any structural anomaly of the lingual glands located on the lateral margins of the tongue, at the level of the foliate papillae and in the root of the tongue behind the circumvallate papillae; in humans, the ducts of posterior superficial lingual glands open into the crypts of lingual tonsils; mucous supplied by these glands may help to cleanse the crypts and aid in deglutition PMID:19166479 increase in the number of cells of the brain undergoing programmed cell death MPheno.ontology MP:0014178 increased brain apoptosis MP:0014178 increase in the number of cells of the brain undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal circulation and tight-junctions between retinal epithelial cells preventing passage of large molecules from choriocapillaris into the retina; the BRB barrier becomes more leaky in patients with diabetic retinopathy abnormal BRB function abnormal blood-retinal barrier function MPheno.ontology MP:0014179 abnormal blood-retina barrier function MP:0014179 anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal circulation and tight-junctions between retinal epithelial cells preventing passage of large molecules from choriocapillaris into the retina; the BRB barrier becomes more leaky in patients with diabetic retinopathy https://en.wikipedia.org/wiki/Blood%E2%80%93retinal_barrier change in the timing or the number of cells located in the thymus that are undergoing programmed cell death MPheno.ontology MP:0014180 abnormal thymus apoptosis MP:0014180 change in the timing or the number of cells located in the thymus that are undergoing programmed cell death https://orcid.org/0000-0003-3691-0324 any anomaly in the directed movement of a sodium from one side of the respiratory epithelial cell membrane to the other MPheno.ontology MP:0014181 abnormal respiratory epithelial sodium ion transmembrane transport MP:0014181 any anomaly in the directed movement of a sodium from one side of the respiratory epithelial cell membrane to the other GO:0035725 decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other MPheno.ontology MP:0014182 decreased respiratory epithelial sodium ion transmembrane transport MP:0014182 decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other https://orcid.org/0000-0003-3691-0324 increase in the directed movement of sodium ion from one side of the respiratory epithelial cell membrane to the other MPheno.ontology MP:0014183 increased respiratory epithelial sodium ion transmembrane transport MP:0014183 increase in the directed movement of sodium ion from one side of the respiratory epithelial cell membrane to the other https://orcid.org/0000-0003-3691-0324 acquired diminution of the size of the hindbrain associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes atrophic hindbrain atrophic rhombencephalon rhombencephalon atrophy MPheno.ontology MP:0014184 hindbrain atrophy MP:0014184 acquired diminution of the size of the hindbrain associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes atrophic cerebellum cerebellar atrophy MPheno.ontology MP:0014185 cerebellum atrophy MP:0014185 acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 increase in the bulk size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens due to cell enlargement epididymal hypertrophy hypertrophic epididymis MPheno.ontology MP:0014186 epididymis hypertrophy MP:0014186 a retention cyst of a tubule of the rete testis or the head of the epididymis distended with barely watery fluid that contains spermatozoa spermatoceles MPheno.ontology MP:0014187 spermatocele MP:0014187 a retention cyst of a tubule of the rete testis or the head of the epididymis distended with barely watery fluid that contains spermatozoa http://medical-dictionary.thefreedictionary.com/spermatocyst https://en.wikipedia.org/wiki/Spermatocele invasion of fibrous connective tissue into the epididymis, often resulting from inflammation or injury epididymal fibrosis MPheno.ontology MP:0014188 epididymis fibrosis MP:0014188 invasion of fibrous connective tissue into the epididymis, often resulting from inflammation or injury https://orcid.org/0000-0002-6490-7723 invasion of fibrous connective tissue into the testis, often resulting from inflammation or injury testicular fibrosis MPheno.ontology MP:0014189 testis fibrosis MP:0014189 invasion of fibrous connective tissue into the testis, often resulting from inflammation or injury https://orcid.org/0000-0002-6490-7723 any functional anomaly of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens abnormal epididymal physiology MPheno.ontology MP:0014190 abnormal epididymis physiology MP:0014190 any functional anomaly of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens https://orcid.org/0000-0002-6490-7723 anomaly in the expansion rate of any epididymal cell population by cell division MPheno.ontology MP:0014191 abnormal epididymal cell proliferation MP:0014191 anomaly in the expansion rate of any epididymal cell population by cell division https://orcid.org/0000-0002-6490-7723 increase in the expansion rate of any epididymal cell population by cell division MPheno.ontology MP:0014192 increased epididymal cell proliferation MP:0014192 increase in the expansion rate of any epididymal cell population by cell division https://orcid.org/0000-0002-6490-7723 decrease in the expansion rate of any epididymal cell population by cell division reduced epididymal cell proliferation MPheno.ontology MP:0014193 decreased epididymal cell proliferation MP:0014193 decrease in the expansion rate of any epididymal cell population by cell division https://orcid.org/0000-0002-6490-7723 increase in the expansion rate of the cells of the epididymal epithelium by cell division MPheno.ontology MP:0014194 increased epididymal epithelium cell proliferation MP:0014194 increase in the expansion rate of the cells of the epididymal epithelium by cell division https://orcid.org/0000-0002-6490-7723 anomaly in the synthesis and/or release of any of the hormones produced by different types of cells in the islets of Langerhans of the endocrine pancreas and secreted directly into the blood stream to regulate blood glucose homeostasis; these hormones include glucagon secreted by alpha cells, insulin and amylin (also known as Islet Amyloid Polypeptide or IAPP) co-secreted by beta cells, somatostatin secreted by delta cells, gherlin secreted by epsilon cells, and pancreatic polypeptide secreted by PP cells (also known as F cells abnormal endocrine pancreatic secretion MPheno.ontology MP:0014195 abnormal endocrine pancreas secretion MP:0014195 anomaly in the synthesis and/or release of any of the hormones produced by different types of cells in the islets of Langerhans of the endocrine pancreas and secreted directly into the blood stream to regulate blood glucose homeostasis; these hormones include glucagon secreted by alpha cells, insulin and amylin (also known as Islet Amyloid Polypeptide or IAPP) co-secreted by beta cells, somatostatin secreted by delta cells, gherlin secreted by epsilon cells, and pancreatic polypeptide secreted by PP cells (also known as F cells https://orcid.org/0000-0002-6490-7723 absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland absent hypophyseal stalk absent infundibular stem absent pituitary infundibulum MPheno.ontology MP:0014198 absent pituitary infundibular stalk MP:0014198 absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland https://orcid.org/0000-0002-6490-7723 any structural anomaly of the stellate-shaped contractile cells with long dendritic processes that surround the secretory acini and intercalated ducts of the parotid gland, usually found in the glandular epithelium as a thin layer above the basement membrane but generally beneath the luminal cells; they display features of both smooth muscle and epithelium, such as numerous microfilaments with focal densities in the cytoplasmic processes, and desmosomes which attach them to the epithelial cells; their functions include contraction when the gland is stimulated to secrete, compressing or reinforcing the underlying parenchymal cells, thus aiding in the expulsion of saliva and preventing damage to the other cells abnormal parotid gland basket cell morphology abnormal parotid gland myoepithelial cell morphology abnormal parotid myoepithelial cell morphology abnormal parotid myoepithelium morphology MPheno.ontology MP:0014199 abnormal parotid gland myoepithelium morphology MP:0014199 any structural anomaly of the stellate-shaped contractile cells with long dendritic processes that surround the secretory acini and intercalated ducts of the parotid gland, usually found in the glandular epithelium as a thin layer above the basement membrane but generally beneath the luminal cells; they display features of both smooth muscle and epithelium, such as numerous microfilaments with focal densities in the cytoplasmic processes, and desmosomes which attach them to the epithelial cells; their functions include contraction when the gland is stimulated to secrete, compressing or reinforcing the underlying parenchymal cells, thus aiding in the expulsion of saliva and preventing damage to the other cells http://en.wikipedia.org/wiki/Myoepithelial_cell http://www.ccij-online.org/text.asp?2013/2/2/101/113624 any functional anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi MPheno.ontology MP:0014200 abnormal respiratory epithelium physiology MP:0014200 any functional anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any functional anomaly of the cellular avascular layer of the digestive tube passing from the stomach to the anus MPheno.ontology MP:0014201 abnormal intestinal epithelium physiology MP:0014201 any functional anomaly of the cellular avascular layer of the digestive tube passing from the stomach to the anus ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any anomaly in the process in which a solute is transported across the lipid bilayer of an intestinal cell, from one side of a membrane to the other MPheno.ontology MP:0014202 abnormal intestinal epithelial transmembrane transport MP:0014202 any anomaly in the process in which a solute is transported across the lipid bilayer of an intestinal cell, from one side of a membrane to the other GO:0055085 any anomaly in the process in which a calcium ion is transported from one side of a membrane of an intestinal epithelial cell to the other by means of some agent such as a transporter or pore MPheno.ontology MP:0014203 abnormal intestinal epithelial chloride transmembrane transport MP:0014203 any anomaly in the process in which a calcium ion is transported from one side of a membrane of an intestinal epithelial cell to the other by means of some agent such as a transporter or pore GO:0070588 any anomaly in the process in which a sodium ion is transported from one side of a membrane of an intestinal epithelial cell to the other by means of some agent such as a transporter or pore MPheno.ontology MP:0014204 abnormal intestinal epithelial sodium ion transmembrane transport MP:0014204 any anomaly in the process in which a sodium ion is transported from one side of a membrane of an intestinal epithelial cell to the other by means of some agent such as a transporter or pore GO:0035725 increase in the directed movement of a sodium ions from one side of the intestinal epithelial cell membrane to the other MPheno.ontology MP:0014205 increased intestinal epithelial sodium ion transmembrane transport MP:0014205 increase in the directed movement of a sodium ions from one side of the intestinal epithelial cell membrane to the other https://orcid.org/0000-0003-4606-0597 decrease in the directed movement of a sodium ions from one side of the intestinal epithelial cell membrane to the other MPheno.ontology MP:0014206 decreased intestinal epithelial sodium ion transmembrane transport MP:0014206 decrease in the directed movement of a sodium ions from one side of the intestinal epithelial cell membrane to the other https://orcid.org/0000-0003-4606-0597 increase in the directed movement of a chloride from one side of the intestinal epithelial cell membrane to the other MPheno.ontology MP:0014207 increased intestinal epithelial chloride transmembrane transport MP:0014207 increase in the directed movement of a chloride from one side of the intestinal epithelial cell membrane to the other https://orcid.org/0000-0003-4606-0597 decrease in the directed movement of a chloride from one side of the intestinal epithelial cell membrane to the other MPheno.ontology MP:0014208 decreased intestinal epithelial chloride transmembrane transport MP:0014208 decrease in the directed movement of a chloride from one side of the intestinal epithelial cell membrane to the other https://orcid.org/0000-0003-4606-0597 any functional anomaly of the epithelial layer of the pancreatic duct MPheno.ontology MP:0014209 abnormal pancreatic duct epithelium physiology MP:0014209 any functional anomaly of the epithelial layer of the pancreatic duct http://purl.obolibrary.org/obo/UBERON_0009970 any anomaly in the directed movement of a substance from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other MPheno.ontology MP:0014210 abnormal pancreatic duct epithelial transmembrane transport MP:0014210 any anomaly in the directed movement of a substance from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other http://purl.obolibrary.org/obo/GO_0055085 http://purl.obolibrary.org/obo/GO_0070633 any anomaly in the directed movement of chloride from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other MPheno.ontology MP:0014211 abnormal pancreatic duct epithelial chloride transmembrane transport MP:0014211 any anomaly in the directed movement of chloride from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other http://purl.obolibrary.org/obo/GO_0030321 http://purl.obolibrary.org/obo/GO_0055085 reduction in the directed movement of chloride from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other MPheno.ontology MP:0014212 decreased pancreatic duct epithelial chloride transmembrane transport MP:0014212 reduction in the directed movement of chloride from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other https://orcid.org/0000-0003-4606-0597 increase in the directed movement of chloride from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other MPheno.ontology MP:0014213 increased pancreatic duct epithelial chloride transmembrane transport MP:0014213 increase in the directed movement of chloride from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other https://orcid.org/0000-0003-4606-0597 any anomaly in the directed movement of sodium ions from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other MPheno.ontology MP:0014214 abnormal pancreatic duct epithelial sodium ion transmembrane transport MP:0014214 any anomaly in the directed movement of sodium ions from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other http://purl.obolibrary.org/obo/GO_0055085 increase in the directed movement of sodium ions from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other MPheno.ontology MP:0014215 increased pancreatic duct epithelial sodium ion transmembrane transport MP:0014215 increase in the directed movement of sodium ions from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other https://orcid.org/0000-0003-4606-0597 reduction in the directed movement of sodium ions from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other MPheno.ontology MP:0014216 decreased pancreatic duct epithelial sodium ion transmembrane transport MP:0014216 reduction in the directed movement of sodium ions from one side of the lipid bilayer of the epithelium of the pancreatic duct to the other https://orcid.org/0000-0003-4606-0597 anomaly in the width of the mucosal layer that lines the intestine abnormal bowel mucosa thickness abnormal intestine mucosa thickness MPheno.ontology MP:0014217 abnormal intestinal mucosa thickness MP:0014217 anomaly in the width of the mucosal layer that lines the intestine http://purl.obolibrary.org/obo/UBERON_0001242 increase in the width of the mucosal layer that lines the intestine increased bowel mucosa thickness increased mucosa of intestine thickness thick intestine mucosa MPheno.ontology MP:0014218 increased intestinal mucosa thickness MP:0014218 increase in the width of the mucosal layer that lines the intestine http://purl.obolibrary.org/obo/UBERON_0001242 decrease in the width of the mucosal layer that lines the intestine decreased bowel mucosa thickness reduced mucosa of intestine thickness thin intestine mucosa MPheno.ontology MP:0014219 decreased intestinal mucosa thickness MP:0014219 decrease in the width of the mucosal layer that lines the intestine http://purl.obolibrary.org/obo/UBERON_0001242 any anomaly in the number of goblet cells in the colon MPheno.ontology MP:0014220 abnormal colon goblet cell number MP:0014220 any anomaly in the number of goblet cells in the colon https://orcid.org/0000-0003-4606-0597 increase in the number of goblet cells in the colon colon goblet cell hyperplasia MPheno.ontology MP:0014221 increased colon goblet cell number MP:0014221 increase in the number of goblet cells in the colon https://orcid.org/0000-0002-6490-7723 reduction in the number of goblet cells in the colon colon goblet cell hypoplasia reduced colon goblet cell number MPheno.ontology MP:0014222 decreased colon goblet cell number MP:0014222 reduction in the number of goblet cells in the colon https://orcid.org/0000-0002-6490-7723 any anomaly in the number of goblet cells in the ileum abnormal ileum goblet cell number MPheno.ontology MP:0014223 abnormal ileal goblet cell number MP:0014223 any anomaly in the number of goblet cells in the ileum https://orcid.org/0000-0002-6490-7723 increase in the number of goblet cells in the ileum ileal goblet cell hyperplasia increased ileum goblet cell number MPheno.ontology MP:0014224 increased ileal goblet cell number MP:0014224 increase in the number of goblet cells in the ileum https://orcid.org/0000-0002-6490-7723 reduction in the number of goblet cells in the ileum ileal goblet cell hypoplasia reduced ileal goblet cell number MPheno.ontology MP:0014225 decreased ileal goblet cell number MP:0014225 reduction in the number of goblet cells in the ileum https://orcid.org/0000-0002-6490-7723 any functional anomaly of the round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells MPheno.ontology MP:0014226 abnormal alveolar macrophage physiology MP:0014226 any functional anomaly of the round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells CL:0000583 any anomaly in the number of round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells MPheno.ontology MP:0014227 abnormal alveolar macrophage number MP:0014227 any anomaly in the number of round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells CL:0000583 https://orcid.org/0000-0003-4606-0597 increase in the number of round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells alveolar macrophage hyperplasia elevated alveolar macrophage number MPheno.ontology MP:0014228 increased alveolar macrophage number MP:0014228 increase in the number of round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells https://orcid.org/0000-0003-4606-0597 reduction in the number of round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells alveolar macrophage hypoplasia reduced alveolar macrophage number MPheno.ontology MP:0014229 decreased alveolar macrophage number MP:0014229 reduction in the number of round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells https://orcid.org/0000-0003-4606-0597 an expansion in the volume or area of the lumen of one or more of the crypts of Lieberkuhn crypt of Lieberkuhn dilation dilated crypts of Lieberkuhn MPheno.ontology MP:0014230 dilated crypt of Lieberkuhn MP:0014230 an expansion in the volume or area of the lumen of one or more of the crypts of Lieberkuhn PMID:8605891 https://orcid.org/0000-0003-4606-0597 increase in the amount of mucus contained within the lumin of the intestine MPheno.ontology MP:0014231 intestinal mucus accumulation MP:0014231 increase in the amount of mucus contained within the lumin of the intestine PMID:18802965 https://orcid.org/0000-0003-4606-0597 the luminal space of one or more of the pancreatic acini are increased in volume or area, usually with an increase in contained fluid dilated pancreatic acini pancreatic acini dilation pancreatic acinus dilation MPheno.ontology MP:0014232 dilated pancreatic acinus MP:0014232 the luminal space of one or more of the pancreatic acini are increased in volume or area, usually with an increase in contained fluid https://orcid.org/0000-0003-4606-0597 increase in the number of normal cells in normal arrangement in the bile duct epithelium, typically resulting in increased size hyperplastic bile duct epithelium MPheno.ontology MP:0014233 bile duct epithelium hyperplasia MP:0014233 increase in the number of normal cells in normal arrangement in the bile duct epithelium, typically resulting in increased size https://orcid.org/0000-0003-4606-0597 reduction in the timing or the number of enterocytes undergoing programmed cell death 2023-03-02T14:20:13Z reduced intestinal cell apoptosis reduced intestinal epithelial cell apoptosis MPheno.ontology MP:0014234 decreased enterocyte apoptosis MP:0014234 reduction in the timing or the number of enterocytes undergoing programmed cell death https://orcid.org/0000-0003-4606-0597 any anomaly in the span of life of an organism or population of organisms spends free from the signs, symptoms, or occurrence of neoplasms 2023-05-19T20:27:21Z abnormal tumor free survival time MPheno.ontology MP:0014235 abnormal tumor-free survival time MP:0014235 any anomaly in the span of life of an organism or population of organisms spends free from the signs, symptoms, or occurrence of neoplasms https://www.cancer.gov/publications/dictionaries/cancer-terms/def/disease-free-survival increase in the length of time an organism or population of organisms spends free from the signs, symptoms, or occurrence of neoplasms 2023-05-19T20:30:52Z prolonged tumor free survival time MPheno.ontology MP:0014236 increased tumor-free survival time MP:0014236 increase in the length of time an organism or population of organisms spends free from the signs, symptoms, or occurrence of neoplasms https://orcid.org/0000-0003-4606-0597 decrease in the length of time an organism or population of organisms spends free from the signs, symptoms, or occurrence of neoplasms 2023-05-19T20:32:38Z reduced tumor free survival time MPheno.ontology MP:0014237 decreased tumor-free survival time MP:0014237 decrease in the length of time an organism or population of organisms spends free from the signs, symptoms, or occurrence of neoplasms https://orcid.org/0000-0003-4606-0597 any anomaly in the structure of the intracellular organelle consisting of RNA and protein that is the site of protein biosynthesis resulting from translation of messenger RNA 2023-05-26T18:03:35Z MPheno.ontology MP:0014238 abnormal ribosome morphology MP:0014238 any anomaly in the structure of the intracellular organelle consisting of RNA and protein that is the site of protein biosynthesis resulting from translation of messenger RNA http://purl.obolibrary.org/obo/GO_0005840 any anomaly in the structure of the organized components of distincive morphology and function that occur within a cell 2023-05-26T18:09:47Z MPheno.ontology MP:0014239 abnormal intracellular organelle morphology MP:0014239 any anomaly in the structure of the organized components of distincive morphology and function that occur within a cell http://purl.obolibrary.org/obo/GO_0043229 any functional anomaly in the intracellular organelle consisting of RNA and protein that is the site of protein biosynthesis resulting from translation of messenger RNA 2023-05-26T18:21:43Z abnormal ribosomal physiology MPheno.ontology MP:0014240 abnormal ribosome physiology MP:0014240 any functional anomaly in the intracellular organelle consisting of RNA and protein that is the site of protein biosynthesis resulting from translation of messenger RNA http://purl.obolibrary.org/obo/GO_0005840 any functional anomaly in the organized components of distincive morphology and function that occur within a cell 2023-05-26T18:25:10Z MPheno.ontology MP:0014241 abnormal intracellular organelle physiology MP:0014241 any functional anomaly in the organized components of distincive morphology and function that occur within a cell GO:0043229 any anomaly in the process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits; including transport to the sites of protein synthesis 2023-05-26T18:37:41Z abnormal ribosomal biogenesis and assembly MPheno.ontology MP:0014242 abnormal ribosome biogenesis MP:0014242 any anomaly in the process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits; including transport to the sites of protein synthesis http://purl.obolibrary.org/obo/GO_0042254 any anomaly in the process that results in the aggregation, arrangement and bonding together of the mature ribosome and of its subunits 2023-05-26T18:40:30Z abnormal ribosomal subunit assembly MPheno.ontology MP:0014243 abnormal ribosome assembly MP:0014243 any anomaly in the process that results in the aggregation, arrangement and bonding together of the mature ribosome and of its subunits http://purl.obolibrary.org/obo/GO_0042255 anomaly in the amount of the major energy source adenosine triphosphate inside cells 2023-05-26T19:49:44Z abnormal cellular adenosine triphosphate level MPheno.ontology MP:0014244 abnormal cellular ATP level MP:0014244 anomaly in the amount of the major energy source adenosine triphosphate inside cells https://orcid.org/0000-0003-4606-0597 elevated concentration of the major energy source adenosine triphosphate inside cells 2023-05-26T19:51:46Z elevated cellular ATP level MPheno.ontology MP:0014245 increased cellular ATP level MP:0014245 elevated concentration of the major energy source adenosine triphosphate inside cells https://orcid.org/0000-0003-4606-0597 reduced concentration of the major energy source adenosine triphosphate inside cells 2023-05-26T19:51:59Z reduced cellular ATP level MPheno.ontology MP:0014246 decreased cellular ATP level MP:0014246 reduced concentration of the major energy source adenosine triphosphate inside cells https://orcid.org/0000-0003-4606-0597 increased length of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region 2023-05-31T18:41:06Z increased photoreceptor inner segment length MPheno.ontology MP:0014247 long photoreceptor inner segment MP:0014247 increased length of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region https://orcid.org/0000-0003-4606-0597 decreased thickness of the retinal layer formed by expansion of the fibers of the optic nerve 2023-05-31T18:47:14Z decreased retinal nerve fibre layer thickness reduced retinal nerve fibre layer thickness thin stratum opticum MPheno.ontology MP:0014248 thin retina nerve fiber layer MP:0014248 decreased thickness of the retinal layer formed by expansion of the fibers of the optic nerve https://orcid.org/0000-0003-4606-0597 increased thickness of the retinal layer formed by expansion of the fibers of the optic nerve 2023-05-31T18:47:30Z increased retinal nerve fibre layer thickness thick stratum opticum MPheno.ontology MP:0014249 thick retina nerve fiber layer MP:0014249 increased thickness of the retinal layer formed by expansion of the fibers of the optic nerve https://orcid.org/0000-0003-4606-0597 derangement of the normal pattern of the retinal layer formed by expansion of the fibers of the optic nerve 2023-05-31T18:48:05Z disorganised stratum opticum disorganized retinal nerve fibre layer MPheno.ontology MP:0014250 disorganized retina nerve fiber layer MP:0014250 derangement of the normal pattern of the retinal layer formed by expansion of the fibers of the optic nerve https://orcid.org/0000-0003-4606-0597 absence of the retinal layer formed by expansion of the fibers of the optic nerve 2023-05-31T18:48:21Z absent retinal nerve fibre layer absent stratum opticum MPheno.ontology MP:0014251 absent retina nerve fiber layer MP:0014251 absence of the retinal layer formed by expansion of the fibers of the optic nerve https://orcid.org/0000-0003-4606-0597 any anomaly in the response of central synapses when activated twice in rapid succession as expressed by the ratio of the amplitude of the second response to the first response 2023-06-20T17:23:58Z abnormal PPR abnormal paired pulse ratio MPheno.ontology MP:0014252 abnormal paired-pulse ratio MP:0014252 any anomaly in the response of central synapses when activated twice in rapid succession as expressed by the ratio of the amplitude of the second response to the first response https://doi.org/10.1016/j.brainres.2007.03.089 decrease in the ratio of the amplitude of the second response to the first response in central synapses following activation twice in rapid succession 2023-06-20T17:27:59Z decreased paired pulse ratio reduced PPR MPheno.ontology MP:0014253 decreased paired-pulse ratio MP:0014253 decrease in the ratio of the amplitude of the second response to the first response in central synapses following activation twice in rapid succession https://doi.org/10.1016/j.brainres.2007.03.089 increase in the ratio of the amplitude of the second response to the first response in central synapses following activation twice in rapid succession 2023-06-20T17:28:10Z elevated PPR increased paired pulse ratio MPheno.ontology MP:0014254 increased paired-pulse ratio MP:0014254 increase in the ratio of the amplitude of the second response to the first response in central synapses following activation twice in rapid succession https://doi.org/10.1016/j.brainres.2007.03.089 elevation in the suppressive response of central synapses when activated twice in rapid succession 2023-06-20T17:41:45Z elevated PPD enhanced PPI increased paired pulse depression MPheno.ontology MP:0014255 increased paired-pulse inhibition MP:0014255 elevation in the suppressive response of central synapses when activated twice in rapid succession https://orcid.org/0000-0003-4606-0597 reduction in the suppressive response of central synapses when activated twice in rapid succession 2023-06-20T17:42:03Z decreased PPD decreased paired pulse depression reduced PPI MPheno.ontology MP:0014256 decreased paired-pulse inhibition MP:0014256 reduction in the suppressive response of central synapses when activated twice in rapid succession https://orcid.org/0000-0003-4606-0597 death of all organisms prior to the appearance of tooth buds (Mus: E12-E12.5) 2023-06-20T18:00:47Z complete embryonic lethality prior to tooth bud stage MPheno.ontology MP:0014257 embryonic lethality prior to tooth bud stage, complete penetrance MP:0014257 death of all organisms prior to the appearance of tooth buds (Mus: E12-E12.5) https://orcid.org/0000-0003-4606-0597 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms prior to the appearance of tooth buds (Mus: E12-E12.5) 2023-06-20T18:00:56Z incomplete embryonic lethality prior to tooth bud stage partial embryonic lethality prior to tooth bud stage MPheno.ontology MP:0014258 embryonic lethality prior to tooth bud stage, incomplete penetrance MP:0014258 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms prior to the appearance of tooth buds (Mus: E12-E12.5) https://orcid.org/0000-0003-4606-0597 death of all organisms prior to the completion of embryo turning (Mus: E9-9.5) 2023-06-20T18:10:00Z complete embryonic lethality prior to organogenesis MPheno.ontology MP:0014259 embryonic lethality prior to organogenesis, complete penetrance MP:0014259 death of all organisms prior to the completion of embryo turning (Mus: E9-9.5) https://orcid.org/0000-0003-4606-0597 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms prior to the completion of embryo turning (Mus: E9-9.5) 2023-06-20T18:10:16Z incomplete embryonic lethality prior to organogenesis partial embryonic lethality prior to organogenesis MPheno.ontology MP:0014260 embryonic lethality prior to organogenesis, incomplete penetrance MP:0014260 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms prior to the completion of embryo turning (Mus: E9-9.5) https://orcid.org/0000-0003-4606-0597 any anomaly in the number of areas of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur 2023-06-20T18:31:43Z abnormal spleen B lymphocyte follicle number abnormal splenic B cell follicle number MPheno.ontology MP:0014261 abnormal spleen B cell follicle number MP:0014261 any anomaly in the number of areas of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur https://orcid.org/0000-0003-4606-0597 increase in the number of areas of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur 2023-06-20T18:31:55Z elevated spleen B lymphocyte follicle number increased splenic B cell follicle number MPheno.ontology MP:0014262 increased spleen B cell follicle number MP:0014262 increase in the number of areas of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur https://orcid.org/0000-0003-4606-0597 reduction in the number of areas of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur 2023-06-20T18:32:08Z decreased splenic B cell follicle number reduced spleen B lymphocyte follicle number MPheno.ontology MP:0014263 decreased spleen B cell follicle number MP:0014263 reduction in the number of areas of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur https://orcid.org/0000-0003-4606-0597 any anomaly in the extent to which the cells residing around veins surround the vessel, these cells include vascular smooth muscle cells and pericytes 2023-06-20T19:00:44Z abnormal PVC coverage MPheno.ontology MP:0014264 abnormal perivascular vein cell coverage MP:0014264 any anomaly in the extent to which the cells residing around veins surround the vessel, these cells include vascular smooth muscle cells and pericytes https://doi.org/10.1161/JAHA.118.010690 increased thickness of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites 2023-06-20T20:00:16Z increased retina inner plexiform layer thickness increased retinal inner plexiform layer thickness thick retinal IPL MPheno.ontology MP:0014265 thick retina inner plexiform layer MP:0014265 increased thickness of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites https://orcid.org/0000-0003-4606-0597 increased thickness of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites) 2023-06-20T20:05:12Z increased retina OPL thickness thick retinal OPL MPheno.ontology MP:0014266 thick retina outer plexiform layer MP:0014266 increased thickness of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites) https://orcid.org/0000-0003-4606-0597 a reduction in the production and/or release of hormones from a cell or a gland of the reproductive system 2023-07-21T18:54:03Z hypogonadism reduced sex gland secretion MPheno.ontology MP:0014267 decreased sex gland secretion MP:0014267 a reduction in the production and/or release of hormones from a cell or a gland of the reproductive system https://www.mayoclinic.org/diseases-conditions/male-hypogonadism/symptoms-causes/syc-20354881 https://medlineplus.gov/ency/article/001195.htm an increase in the production and/or release of hormones from a cell or a gland of the reproductive system 2023-07-21T19:10:23Z enhanced sex gland secretion hypergonadism MPheno.ontology MP:0014268 increased sex gland secretion MP:0014268 an increase in the production and/or release of hormones from a cell or a gland of the reproductive system https://www.healthline.com/health/hypergonadism reduction in the production and/or release of hormones from testicular tissue 2023-07-21T19:37:17Z male hypogonadism reduced testis secretion MPheno.ontology MP:0014269 decreased testes secretion MP:0014269 reduction in the production and/or release of hormones from testicular tissue https://orcid.org/0000-0003-4606-0597 reduction in the production and/or release of hormones from ovarian tissue 2023-07-21T19:37:39Z female hypogonadism reduced ovarian secretion MPheno.ontology MP:0014270 decreased ovary secretion MP:0014270 reduction in the production and/or release of hormones from ovarian tissue https://orcid.org/0000-0003-4606-0597 elevation in the production and/or release of hormones from testicular tissue 2023-07-21T19:37:53Z elevated testis secretion male hypergonadism MPheno.ontology MP:0014271 increased testes secretion MP:0014271 elevation in the production and/or release of hormones from testicular tissue https://orcid.org/0000-0003-4606-0597 elevation in the production and/or release of hormones from ovarian tissue 2023-07-21T19:38:07Z elevated ovarian secretion enhanced ovarian secretion female hypergonadism MPheno.ontology MP:0014272 increased ovary secretion MP:0014272 elevation in the production and/or release of hormones from ovarian tissue https://orcid.org/0000-0003-4606-0597 any structural anomaly of the network of tubes that carries blood through the skin 2023-07-21T20:13:33Z abnormal skin blood vessel morphology vascular skin abnormality MPheno.ontology MP:0014273 abnormal skin vasculature morphology MP:0014273 any structural anomaly of the network of tubes that carries blood through the skin https://orcid.org/0000-0003-4606-0597 decrease in the movement of gases into and out of the lung 2023-07-21T20:43:20Z impaired respiration reduced respiration MPheno.ontology MP:0014274 decreased respiration MP:0014274 decrease in the movement of gases into and out of the lung https://orcid.org/0000-0003-4606-0597 increase in the movement of gases into and out of the lung 2023-07-21T20:43:31Z enhanced respiration MPheno.ontology MP:0014275 increased respiration MP:0014275 increase in the movement of gases into and out of the lung https://orcid.org/0000-0003-4606-0597 the least severe form of holosprosencephaly, most of the brain is separated into two hemispheres but the division is incomplete with the cerebral hemispheres fused in the frontal cortex 2023-07-25T15:37:12Z lobar HPE MPheno.ontology MP:0014276 lobar holoprosencephaly MP:0014276 the least severe form of holosprosencephaly, most of the brain is separated into two hemispheres but the division is incomplete with the cerebral hemispheres fused in the frontal cortex https://my.clevelandclinic.org/health/diseases/22919-holoprosencephaly-hpe the most severe forme of holoprosencaphaly with complete failure of the brain to separate into two hemispheres 2023-07-25T15:41:48Z alobar HPE MPheno.ontology MP:0014277 alobar holoprosencephaly MP:0014277 the most severe forme of holoprosencaphaly with complete failure of the brain to separate into two hemispheres https://my.clevelandclinic.org/health/diseases/22919-holoprosencephaly-hpe a type of holoprosencephaly with partial division of the brain into two hemispheres, fusion of the hemispheres is present in the frontal and parietal lobes with the interhemispheric fissure present only in the back of the brain 2023-07-25T16:04:50Z semilobar HPE MPheno.ontology MP:0014278 semilobar holoprosencephaly MP:0014278 a type of holoprosencephaly with partial division of the brain into two hemispheres, fusion of the hemispheres is present in the frontal and parietal lobes with the interhemispheric fissure present only in the back of the brain https://my.clevelandclinic.org/health/diseases/22919-holoprosencephaly-hpe any anomaly in the normal turning and fixation of the intestine during development potentially resulting in twisting of the intestine 2023-07-25T18:24:17Z intestinal malrotation MPheno.ontology MP:0014279 abnormal intestinal rotation MP:0014279 any anomaly in the normal turning and fixation of the intestine during development potentially resulting in twisting of the intestine https://kidshealth.org/en/parents/malrotation.html https://www.cincinnatichildrens.org/health/i/intestinal-malrotation congenital condition in which some digits or parts of digits are missing from the autopods of the forelimbs 2023-07-25T18:54:26Z MPheno.ontology MP:0014280 forelimb oligodactyly MP:0014280 congenital condition in which some digits or parts of digits are missing from the autopods of the forelimbs https://orcid.org/0000-0003-4606-0597 congenital condition in which some digits or parts of digits are missing from the autopods of the hindlimbs 2023-07-25T18:54:40Z MPheno.ontology MP:0014281 hindlimb oligodactyly MP:0014281 congenital condition in which some digits or parts of digits are missing from the autopods of the hindlimbs https://orcid.org/0000-0003-4606-0597 any degree of webbing or fusion of the digits of the forelimb autopod, may involve only soft tissues or also can include bone 2023-07-25T19:03:48Z MPheno.ontology MP:0014282 forelimb syndactyly MP:0014282 any degree of webbing or fusion of the digits of the forelimb autopod, may involve only soft tissues or also can include bone https://orcid.org/0000-0003-4606-0597 any degree of webbing or fusion of the digits of the hindlimb autopod, may involve only soft tissues or also can include bone 2023-07-25T19:04:01Z MPheno.ontology MP:0014283 hindlimb syndactyly MP:0014283 any degree of webbing or fusion of the digits of the hindlimb autopod, may involve only soft tissues or also can include bone https://orcid.org/0000-0003-4606-0597 anomaly in the size of the wide middle zone of the adrenal cortex that produces cortisol 2023-08-08T14:51:31Z MPheno.ontology MP:0014284 abnormal adrenal gland zona fasciculata size MP:0014284 anomaly in the size of the wide middle zone of the adrenal cortex that produces cortisol https://orcid.org/0000-0003-4606-0597 derangement of the pattern of the cells in the wide middle zone of the adrenal cortex 2023-08-08T14:52:20Z disorganised adrenal gland zona fasciculata MPheno.ontology MP:0014285 disorganized adrenal gland zona fasciculata MP:0014285 derangement of the pattern of the cells in the wide middle zone of the adrenal cortex https://orcid.org/0000-0003-4606-0597 increase in the size of the wide middle zone of the adrenal cortex that produces cortisol 2023-08-08T14:53:41Z enlarged adrenal gland zona fasciculata area expanded adrenal gland zona fasciculata MPheno.ontology MP:0014286 increased adrenal gland zona fasciculata size MP:0014286 increase in the size of the wide middle zone of the adrenal cortex that produces cortisol https://orcid.org/0000-0001-5356-4174 decrease in the size of the wide middle zone of the adrenal cortex that produces cortisol 2023-08-08T14:53:50Z reduced adrenal gland zona fasciculata size MPheno.ontology MP:0014287 decreased adrenal gland zona fasciculata size MP:0014287 decrease in the size of the wide middle zone of the adrenal cortex that produces cortisol https://orcid.org/0000-0001-5356-4174 the proximal portion of the limbs are dispropotionately shortened 2023-08-08T19:27:07Z decreased proximal limb length short proximal limb MPheno.ontology rhizomelia MP:0014288 rhizomelic limb MP:0014288 the proximal portion of the limbs are dispropotionately shortened http://purl.obolibrary.org/obo/HP_0008905 https://link.springer.com/chapter/10.1007/978-3-642-54610-5_13 the distal portion of the limbs are dispropotionately shortened 2023-08-08T19:35:40Z reduced distal imb length short distal limb MPheno.ontology MP:0014289 decreased distal limb length MP:0014289 the distal portion of the limbs are dispropotionately shortened http://purl.obolibrary.org/obo/HP_0006402 anomaly in the size of the distal elements of the limb 2023-08-08T20:08:44Z MPheno.ontology MP:0014290 abnormal autopod size MP:0014290 anomaly in the size of the distal elements of the limb https://orcid.org/0000-0003-4606-0597 reduced size of the distal elements of the limb of vertebrates 2023-08-08T20:20:16Z reduced autopod size small autopod truncated autopod MPheno.ontology MP:0014291 decreased autopod size MP:0014291 reduced size of the distal elements of the limb of vertebrates https://orcid.org/0000-0003-4606-0597 reduced cross-sectional distance that extends from one lateral edge of the tibia long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the tibia 2023-08-09T19:40:36Z decreased endosteal diameter of tibia decreased inner diameter of tibia decreased tibia medullary cavity diameter reduced tibia bone marrow cavity diameter MPheno.ontology MP:0014292 decreased internal diameter of tibia MP:0014292 reduced cross-sectional distance that extends from one lateral edge of the tibia long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the tibia PMID:35239186 https://orcid.org/0000-0001-5356-4174 increased cross-sectional distance that extends from one lateral edge of the tibia long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the tibia 2023-08-09T19:40:51Z increased endosteal diameter of tibia increased inner diameter of tibia increased tibia bone marrow cavity diameter increased tibia medullary cavity diameter MPheno.ontology MP:0014293 increased internal diameter of tibia MP:0014293 increased cross-sectional distance that extends from one lateral edge of the tibia long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the tibia PMID:35239186 https://orcid.org/0000-0001-5356-4174 any anomaly in the series of characteristic changes in size, shape, and calcification occuring in the skeleton from fetal life until puberty that result in the skeleton reaching its full maturity 2023-08-09T20:09:59Z MPheno.ontology MP:0014294 abnormal skeletal maturation MP:0014294 any anomaly in the series of characteristic changes in size, shape, and calcification occuring in the skeleton from fetal life until puberty that result in the skeleton reaching its full maturity HP:0000927 https://www.sciencedirect.com/topics/medicine-and-dentistry/bone-maturation earlier than expected age at which the skeleton reaches specific stages of maturation 2023-08-09T20:26:11Z early skeletal maturation MPheno.ontology MP:0014295 premature skeletal maturation MP:0014295 earlier than expected age at which the skeleton reaches specific stages of maturation https://orcid.org/0000-0003-4606-0597 later than expected age at which the skeleton reaches specific stages of maturation 2023-08-09T20:26:23Z late skeletal maturation MPheno.ontology MP:0014296 delayed skeletal maturation MP:0014296 later than expected age at which the skeleton reaches specific stages of maturation https://orcid.org/0000-0003-4606-0597 anomaly in the size of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound 2023-08-25T17:34:40Z abnormal cochlear size MPheno.ontology MP:0014297 abnormal cochlea size MP:0014297 anomaly in the size of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound https://orcid.org/0000-0003-4606-0597 any anomaly in the side to side dimension of the cochlea 2023-08-25T17:45:15Z MPheno.ontology MP:0014298 abnormal cochlear width MP:0014298 any anomaly in the side to side dimension of the cochlea https://orcid.org/0000-0003-4606-0597 increased size of the cochlea 2023-08-25T17:45:30Z large cochlea MPheno.ontology MP:0014299 increased cochlea size MP:0014299 increased size of the cochlea https://orcid.org/0000-0003-4606-0597 reduced size of the cochlea 2023-08-25T17:45:42Z small cochlea MPheno.ontology MP:0014300 decreased cochlea size MP:0014300 reduced size of the cochlea https://orcid.org/0000-0003-4606-0597 reduction in the side to side dimension of the cochlea 2023-08-25T17:46:23Z narrow cochlea MPheno.ontology MP:0014301 decreased cochlea width MP:0014301 reduction in the side to side dimension of the cochlea https://orcid.org/0000-0003-4606-0597 increase in the side to side dimension of the cochlea 2023-08-25T17:46:37Z wide cochlea MPheno.ontology MP:0014302 increased cochlea width MP:0014302 increase in the side to side dimension of the cochlea https://orcid.org/0000-0003-4606-0597 any anomaly in the end to end length of the cochlea 2023-08-25T17:47:06Z MPheno.ontology MP:0014303 abnormal cochlea length MP:0014303 any anomaly in the end to end length of the cochlea https://orcid.org/0000-0003-4606-0597 increase in the end to end length of the cochlea 2023-08-25T17:47:16Z long cochlea MPheno.ontology MP:0014304 increased cochlea length MP:0014304 increase in the end to end length of the cochlea https://orcid.org/0000-0003-4606-0597 decrease in the end to end length of the cochlea 2023-08-25T17:47:28Z short cochlea MPheno.ontology MP:0014305 decreased cochlea length MP:0014305 decrease in the end to end length of the cochlea https://orcid.org/0000-0003-4606-0597 an increase in cochlear coiling or number of turns; in wild-type mice, the cochlea most commonly exhibits one and three-fourth turns 2023-08-25T19:26:59Z increased cochlear coiling MPheno.ontology MP:0014306 increased cochlea coiling MP:0014306 an increase in cochlear coiling or number of turns; in wild-type mice, the cochlea most commonly exhibits one and three-fourth turns https://orcid.org/0000-0003-4606-0597 less than normal amount of space occupied by compact bone tissue in the femor 2023-08-25T19:46:22Z reduced femor compact bone volume MPheno.ontology MP:0014307 decreased femor compact bone volume MP:0014307 less than normal amount of space occupied by compact bone tissue in the femor PMID:35239186 https://orcid.org/0000-0003-4606-0597 less than normal amount of space occupied by compact bone tissue in the tibia 2023-08-25T19:46:39Z decreased tibia cortical bone volume reduced tibial compact bone volume MPheno.ontology MP:0014308 decreased tibia compact bone volume MP:0014308 less than normal amount of space occupied by compact bone tissue in the tibia PMID:35239186 https://orcid.org/0000-0003-4606-0597 greater than normal amount of space occupied by compact bone tissue in the femor 2023-08-25T19:47:05Z increased femoral compact bone volume increased femur cortical bone volume MPheno.ontology MP:0014309 increased femor compact bone volume MP:0014309 greater than normal amount of space occupied by compact bone tissue in the femor PMID:35239186 https://orcid.org/0000-0003-4606-0597 greater than normal amount of space occupied by compact bone tissue in the tibia 2023-08-25T19:47:41Z increased tibia cortical bone volume increased tibial compact bone volume MPheno.ontology MP:0014310 increased tibia compact bone volume MP:0014310 greater than normal amount of space occupied by compact bone tissue in the tibia PMID:35239186 https://orcid.org/0000-0003-4606-0597 increase in the ability of the primordial germ cell population to undergo rapid expansion by cell division 2023-08-29T19:35:01Z elevated PGC proliferation MPheno.ontology MP:0014311 increased primordial germ cell proliferation MP:0014311 increase in the ability of the primordial germ cell population to undergo rapid expansion by cell division https://orcid.org/0000-0003-4606-0597 lower lip has an abundance and often an excess of soft tissue 2023-10-17T20:02:56Z thick bottom lip thick lower lip vermilion MPheno.ontology MP:0014312 thick lower lip MP:0014312 lower lip has an abundance and often an excess of soft tissue https://orcid.org/0000-0003-4606-0597 lower lip has a reduced amount of soft tissue 2023-10-17T20:06:20Z thin bottom lip thin lower lip vermilion MPheno.ontology MP:0014313 thin lower lip MP:0014313 lower lip has a reduced amount of soft tissue https://orcid.org/0000-0003-4606-0597 derangement of the normal organized pattern of the folia into one lacking uniformity 2023-10-17T20:41:57Z MPheno.ontology MP:0014314 irregular cerebellar foliation pattern MP:0014314 derangement of the normal organized pattern of the folia into one lacking uniformity https://orcid.org/0000-0003-4606-0597 decrease in the depth of the cardiac wall on the anterior side of the heart left ventricle 2023-10-18T18:15:31Z reduced heart left ventricle anterior wall thickness thin left ventricular anterior wall MPheno.ontology MP:0014315 decreased heart left ventricle anterior wall thickness MP:0014315 decrease in the depth of the cardiac wall on the anterior side of the heart left ventricle https://orcid.org/0000-0003-4606-0597 decrease in the depth of the cardiac wall on the posterior side of the heart left ventricle 2023-10-18T18:15:55Z reduced heart left ventricle posterior wall thickness thin cardiac left ventricular posterior wall MPheno.ontology MP:0014316 decreased heart left ventricle posterior wall thickness MP:0014316 decrease in the depth of the cardiac wall on the posterior side of the heart left ventricle https://orcid.org/0000-0003-4606-0597 decrease in the depth of the cardiac septal wall of the heart left ventricle 2023-10-18T18:16:17Z reduced heart left ventricle septal wall thickness thin cardiac left ventricular septal wall MPheno.ontology MP:0014317 decreased heart left ventricle septal wall thickness MP:0014317 decrease in the depth of the cardiac septal wall of the heart left ventricle https://orcid.org/0000-0003-4606-0597 anomaly in the process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte 2023-10-18T18:45:58Z abnormal oligodendroglia differentiation abnormal oligodendroglial cell differentiation abnormal oligoglia differentiation abnormal oligoglial cell differentiation MPheno.ontology MP:0014318 abnormal oligodendrocyte differentiation MP:0014318 anomaly in the process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte http://purl.obolibrary.org/obo/GO_0048709 https://orcid.org/0000-0003-4606-0597 any anomaly in the spatial relationship of the atria to other compartments of the heart 2023-11-13T21:56:18Z abnormal atrial arrangement abnormal location of heart atrium MPheno.ontology MP:0014319 abnormal heart atrium arrangement MP:0014319 any anomaly in the spatial relationship of the atria to other compartments of the heart HP:0011535 any anomaly in the rotational alignment of the autopods relative to the limbs 2023-11-14T20:47:54Z abnormal autopod orientation autopod malrotation MPheno.ontology MP:0014320 abnormal autopod rotation MP:0014320 any anomaly in the rotational alignment of the autopods relative to the limbs PMID:2320577 https://en.wikipedia.org/wiki/Bone_malrotation https://orcid.org/0000-0003-4606-0597 reduced average length of the forelimbs 2023-11-14T21:07:19Z decreased forelimb length reduced forelimb length short forelimbs MPheno.ontology MP:0014321 short forelimb MP:0014321 reduced average length of the forelimbs https://orcid.org/0000-0003-4606-0597 reduced average length of the hindlimbs 2023-11-14T21:07:29Z decreased hindlimb length reduced hindlimb length short hindlimbs MPheno.ontology MP:0014322 short hindlimb MP:0014322 reduced average length of the hindlimbs https://orcid.org/0000-0003-4606-0597 increased average length of the hindlimbs 2023-11-14T21:12:07Z increased hindlimb length long hindlimbs MPheno.ontology MP:0014323 long hindlimb MP:0014323 increased average length of the hindlimbs https://orcid.org/0000-0003-4606-0597 increased average length of the forelimbs 2023-11-14T21:12:24Z increased forelimb length long forelimbs MPheno.ontology MP:0014324 long forelimb MP:0014324 increased average length of the forelimbs https://orcid.org/0000-0003-4606-0597 any structural anomaly in the cells that differentiate into oligodendrocytes or type-2 astrocytes in the central nervous system 2023-11-14T21:39:20Z abnormal oligodendrocyte precursor cell morphology MPheno.ontology MP:0014325 abnormal oligodendrocyte progenitor morphology MP:0014325 any structural anomaly in the cells that differentiate into oligodendrocytes or type-2 astrocytes in the central nervous system CL:0002453 any anomaly in the size of the inhibitory neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex 2023-12-07T16:08:40Z MPheno.ontology MP:0014326 abnormal Purkinje cell size MP:0014326 any anomaly in the size of the inhibitory neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex https://orcid.org/0000-0003-4606-0597 decrease in the size of Purkinje cells 2023-12-07T16:08:57Z reduced Purkinje cell size small Purkinje cells MPheno.ontology MP:0014327 decreased Purkinje cell size MP:0014327 decrease in the size of Purkinje cells https://orcid.org/0000-0003-4606-0597 increase in the size of Purkinje cells 2023-12-07T16:09:12Z Purkinje cell hypertrophy enlarged Purkinje cells MPheno.ontology MP:0014328 increased Purkinje cell size MP:0014328 increase in the size of Purkinje cells https://orcid.org/0000-0003-4606-0597 any structural anomaly of the single process of a Purkinje cell that normally conducts impulses away from the cell body 2023-12-08T18:11:33Z abnormal Purkinje cell axonal morphology abnormal Purkinje nerve fiber morphology MPheno.ontology MP:0014329 abnormal Purkinje cell axon morphology MP:0014329 any structural anomaly of the single process of a Purkinje cell that normally conducts impulses away from the cell body https://orcid.org/0000-0003-4606-0597 any anomaly in localized enlargements of the axon of a Purkinje cell 2023-12-08T18:14:44Z abnormal Purkinje cell axonal torpedoes MPheno.ontology MP:0014330 abnormal Purkinje cell focal axonal swelling MP:0014330 any anomaly in localized enlargements of the axon of a Purkinje cell PMID:27853421 PMID:3510690 any structural anomaly of the semiautonomous, self replicating organelles in the Purkinje cells 2023-12-08T19:17:48Z abnormal Purkinje neuron mitochondrial morphology abnormal Purkinje neuron mitochondrion morphology MPheno.ontology MP:0014331 abnormal Purkinje cell mitochondrial morphology MP:0014331 any structural anomaly of the semiautonomous, self replicating organelles in the Purkinje cells https://orcid.org/0000-0003-4606-0597 increased length of the retinal cone cell outer segment 2023-12-08T20:02:39Z increased retinal cone cell outer segment length long COS MPheno.ontology MP:0014332 long retina cone cell outer segment MP:0014332 increased length of the retinal cone cell outer segment https://orcid.org/0000-0003-4606-0597 decreased length of the retinal cone cell outer segment 2023-12-08T20:03:08Z decreased retinal cone cell photoreceptor outer segment length reduced retinal cone cell photoreceptor outer segment length short COS MPheno.ontology MP:0014333 short retina cone cell outer segment MP:0014333 decreased length of the retinal cone cell outer segment https://orcid.org/0000-0003-4606-0597 decreased length of the retinal cone cell inner segment 2023-12-08T20:10:09Z decreased retinal cone cell photoreceptor inner segment length reduced retinal cone cell photoreceptor inner segment length MPheno.ontology MP:0014334 short retina cone cell inner segment MP:0014334 decreased length of the retinal cone cell inner segment https://orcid.org/0000-0003-4606-0597 increased length of the retinal cone cell inner segment 2023-12-08T20:10:39Z increased retinal cone cell photoreceptor inner segment length MPheno.ontology MP:0014335 long retina cone cell inner segment MP:0014335 increased length of the retinal cone cell inner segment https://orcid.org/0000-0003-4606-0597 decreased length of the retinal rod cell outer segment 2023-12-08T20:20:32Z decreased retinal rod cell outer segment length reduced retinal rod cell outer segment length MPheno.ontology MP:0014336 short retina rod cell outer segment MP:0014336 decreased length of the retinal rod cell outer segment https://orcid.org/0000-0003-4606-0597 increased length of the retinal rod cell outer segment 2023-12-08T20:20:55Z increased retinal rod cell outer segment length MPheno.ontology MP:0014337 long retina rod cell outer segment MP:0014337 increased length of the retinal rod cell outer segment https://orcid.org/0000-0003-4606-0597 deviation from the normal size of the B cell follicles in the spleen 2023-12-15T19:18:03Z abnormal spleen B lymphocyte follicle size abnormal splenic B cell follicle size MPheno.ontology MP:0014338 abnormal spleen B cell follicle size MP:0014338 deviation from the normal size of the B cell follicles in the spleen https://orcid.org/0000-0003-4606-0597 increased length of the retinal rod cell inner segment 2023-12-08T20:31:51Z increased retinal rod cell inner segment length MPheno.ontology MP:0014339 long retina rod cell inner segment MP:0014339 increased length of the retinal rod cell inner segment https://orcid.org/0000-0003-4606-0597 decreased length of the retinal rod cell inner segment 2023-12-08T20:32:11Z decreased retinal rod cell inner segment length reduced retinal rod cell inner segment length MPheno.ontology MP:0014340 short retina rod cell inner segment MP:0014340 decreased length of the retinal rod cell inner segment https://orcid.org/0000-0003-4606-0597 any structural anomaly of the semiautonomous, self replicating organelles in the hepatocytes 2023-12-08T21:07:00Z abnormal hepatocyte mitochondria morphology abnormal hepatocyte mitochondrion morphology MPheno.ontology MP:0014341 abnormal hepatocyte mitochondrial morphology MP:0014341 any structural anomaly of the semiautonomous, self replicating organelles in the hepatocytes https://orcid.org/0000-0003-4606-0597 any structural anomaly of the semiautonomous, self replicating organelles in muscle fibers 2023-12-08T21:11:58Z abnormal muscle fiber mitochondrion morphology abnormal muscle fibre mitochondria morphology MPheno.ontology MP:0014342 abnormal muscle fiber mitochondrial morphology MP:0014342 any structural anomaly of the semiautonomous, self replicating organelles in muscle fibers https://orcid.org/0000-0003-4606-0597 any structural anomaly of the semiautonomous, self replicating organelles in myocardial fibers 2023-12-08T21:15:56Z abnormal adult cardiomyocyte mitochondria morphology abnormal adult cardiomyocyte mitochondrial morphology abnormal cardiac muscle cell mitochondrion morphology abnormal myocardial cell mitochondrial morphology abnormal myocardial fibre mitochondrial morphology MPheno.ontology MP:0014343 abnormal myocardial fiber mitochondrial morphology MP:0014343 any structural anomaly of the semiautonomous, self replicating organelles in myocardial fibers https://orcid.org/0000-0003-4606-0597 any structural anomaly of the semiautonomous, self replicating organelles in skeletal muscle fibers 2023-12-08T21:20:03Z abnormal skeletal muscle fiber mitochondrion morphology abnormal skeletal muscle fibre mitochondria morphology MPheno.ontology MP:0014344 abnormal skeletal muscle fiber mitochondrial morphology MP:0014344 any structural anomaly of the semiautonomous, self replicating organelles in skeletal muscle fibers https://orcid.org/0000-0003-4606-0597 any structural anomaly of the semiautonomous, self replicating organelles in neurons 2023-12-08T21:26:56Z abnormal neuron mitochondria morphology abnormal neuron mitochondrion morphology MPheno.ontology MP:0014345 abnormal neuron mitochondrial morphology MP:0014345 any structural anomaly of the semiautonomous, self replicating organelles in neurons https://orcid.org/0000-0003-4606-0597 any structural anomaly of the semiautonomous, self replicating organelles in motor neurons 2023-12-08T21:30:03Z abnormal motoneuron mitochondria morphology abnormal motor neuron mitochondrion morphology MPheno.ontology MP:0014346 abnormal motor neuron mitochondrial morphology MP:0014346 any structural anomaly of the semiautonomous, self replicating organelles in motor neurons https://orcid.org/0000-0003-4606-0597 larger than normal size of the B cell follicles in the spleen 2023-12-15T19:23:34Z enlarged spleen B lymphocyte follicles increased splenic B cell follicle size MPheno.ontology MP:0014347 increased spleen B cell follicle size MP:0014347 larger than normal size of the B cell follicles in the spleen https://orcid.org/0000-0003-4606-0597 smaller than normal size of the B cell follicles in the spleen 2023-12-15T19:24:57Z reduced splenic B cell follicle size small spleen B lymphocyte follicles MPheno.ontology MP:0014348 decreased spleen B cell follicle size MP:0014348 smaller than normal size of the B cell follicles in the spleen https://orcid.org/0000-0003-4606-0597 absence of all the B cell follicles in the spleen 2023-12-15T19:35:26Z absent spleen B lymphocyte follicles absent splenic B cell follicles MPheno.ontology MP:0014349 absent spleen B cell follicles MP:0014349 absence of all the B cell follicles in the spleen https://orcid.org/0000-0003-4606-0597 derangement of the normal pattern of B cells within the follicles of the spleen 2023-12-15T19:42:42Z disorganized spleen B lymphocyte follicles splenic B cell follicle disorganization MPheno.ontology MP:0014350 disorganized spleen B cell follicle MP:0014350 derangement of the normal pattern of B cells within the follicles of the spleen PMID:9697836 https://orcid.org/0000-0003-4606-0597 any anomaly in the characteristic surface outline or contour of the B cell follicles in the spleen 2023-12-15T19:53:02Z abnormal spleen B lymphocyte follicle shape abnormal splenic B cell follicle shape MPheno.ontology MP:0014351 abnormal spleen B cell follicle shape MP:0014351 any anomaly in the characteristic surface outline or contour of the B cell follicles in the spleen https://orcid.org/0000-0003-4606-0597 any structural anomaly in cells characterized by a tuft of blunt, squat microvilli found in the gastrointestinal and respiratory tracts 2023-12-15T20:49:04Z abnomral tuft cell morphology abnormal caveolated cell morphology abnormal fibrillovesicular cell morphology abnormal multivesicular cell morphology MPheno.ontology MP:0014352 abnormal brush cell morphology MP:0014352 any structural anomaly in cells characterized by a tuft of blunt, squat microvilli found in the gastrointestinal and respiratory tracts http://purl.obolibrary.org/obo/CL_0002204 any structural anomaly in cells characterized by a tuft of blunt, squat microvilli typically found in the gastrointestinal tract 2023-12-15T20:54:46Z abnormal digestive tract fibrillovesicular cell morphology abnormal digestive tract multivesicular cell morphology abnormal digestive tract tuft cell morphology abnormal gastrointestinal tract caveolated cell morphology MPheno.ontology MP:0014353 abnormal gastrointestinal brush cell morphology MP:0014353 any structural anomaly in cells characterized by a tuft of blunt, squat microvilli typically found in the gastrointestinal tract http://purl.obolibrary.org/obo/CL_0002204 https://orcid.org/0000-0003-4606-0597 any structural anomaly in cells characterized by a tuft of blunt, squat microvilli typically found in the respiratory tract 2023-12-15T20:55:09Z abnormal respiratory tract caveolated cell morphology abnormal respiratory tract fibrillovesicular cell morphology abnormal respiratory tract multivesicular cell morphology abnormal respiratory tract tuft cell morphology MPheno.ontology MP:0014354 abnormal respiratory tract brush cell morphology MP:0014354 any structural anomaly in cells characterized by a tuft of blunt, squat microvilli typically found in the respiratory tract http://purl.obolibrary.org/obo/CL_0002204 https://orcid.org/0000-0003-4606-0597 any anomaly in a process which begins when a cell receives an internal or external signal and activates a series of biochemical eventsthat ends with the death of the cell 2024-02-02T21:20:46Z abnormal PCD abnormal regulated cell death MPheno.ontology MP:0014355 abnormal programmed cell death MP:0014355 any anomaly in a process which begins when a cell receives an internal or external signal and activates a series of biochemical eventsthat ends with the death of the cell http://purl.obolibrary.org/obo/GO_0012501 any anomaly in the process which begins when a cell receives a signal and proceeds through a series of biochemical events, characterized by activation of receptor-interacting serine/threonine-protein kinase 1 and/or 3 (RIPK1/3, also called RIP1/3) and by critical dependence on mixed lineage kinase domain-like (MLKL), and which typically lead to common morphological features of necrotic cell death 2024-02-02T21:36:56Z abnormal necroptosis MPheno.ontology MP:0014356 abnormal necroptotic process MP:0014356 any anomaly in the process which begins when a cell receives a signal and proceeds through a series of biochemical events, characterized by activation of receptor-interacting serine/threonine-protein kinase 1 and/or 3 (RIPK1/3, also called RIP1/3) and by critical dependence on mixed lineage kinase domain-like (MLKL), and which typically lead to common morphological features of necrotic cell death GO:0070266 any anomaly in the caspase-1-dependent cell death subroutine that is associated with the generation of pyrogenic mediators such as IL-1beta and IL-18 2024-02-02T21:47:27Z MPheno.ontology MP:0014357 abnormal pyroptosis MP:0014357 any anomaly in the caspase-1-dependent cell death subroutine that is associated with the generation of pyrogenic mediators such as IL-1beta and IL-18 GO:0070269 any anomaly in the process characterized morphologically by the presence of smaller than normal mitochondria with condensed mitochondrial membrane densities, reduction or vanishing of mitochondria crista, and outer mitochondrial membrane rupture 2024-02-02T21:50:02Z abnormal iron-dependent programmed cell death MPheno.ontology MP:0014358 abnormal ferroptosis MP:0014358 any anomaly in the process characterized morphologically by the presence of smaller than normal mitochondria with condensed mitochondrial membrane densities, reduction or vanishing of mitochondria crista, and outer mitochondrial membrane rupture GO:0097707 more than the expected amount or rate of ferroptosis in the whole organism, tissue, or cell population 2024-02-05T20:18:42Z elevated iron-dependent programmed cell death MPheno.ontology MP:0014359 increased ferroptosis MP:0014359 more than the expected amount or rate of ferroptosis in the whole organism, tissue, or cell population https://orcid.org/0000-0003-4606-0597 less than the expected amount or rate of ferroptosis in the whole organism, tissue, or cell population 2024-02-05T20:18:57Z reduced iron-dependent programmed cell death MPheno.ontology MP:0014360 decreased ferroptosis MP:0014360 less than the expected amount or rate of ferroptosis in the whole organism, tissue, or cell population https://orcid.org/0000-0003-4606-0597 more than the expected amount or rate of necroptotic processes in the whole organism, tissue, or cell population 2024-02-05T20:24:36Z elevated necroptosis MPheno.ontology MP:0014361 increased necroptotic process MP:0014361 more than the expected amount or rate of necroptotic processes in the whole organism, tissue, or cell population https://orcid.org/0000-0003-4606-0597 less than the expected amount or rate of necroptotic processes in the whole organism, tissue, or cell population 2024-02-05T20:24:59Z reduced necroptosis MPheno.ontology MP:0014362 decreased necroptotic process MP:0014362 less than the expected amount or rate of necroptotic processes in the whole organism, tissue, or cell population https://orcid.org/0000-0003-4606-0597 more than the expected amount or rate of pyroptosis in the whole organism, tissue, or cell population 2024-02-05T20:29:07Z elevated pyroptosis MPheno.ontology MP:0014363 increased pyroptosis MP:0014363 more than the expected amount or rate of pyroptosis in the whole organism, tissue, or cell population https://orcid.org/0000-0003-4606-0597 less than the expected amount or rate of pyroptosis in the whole organism, tissue, or cell population 2024-02-05T20:29:24Z reduced pyroptosis MPheno.ontology MP:0014364 decreased pyroptosis MP:0014364 less than the expected amount or rate of pyroptosis in the whole organism, tissue, or cell population https://orcid.org/0000-0003-4606-0597 impaired ability of short-term memory to recognize objects during the first few minutes after training 2024-03-05T22:05:21Z decreased short-term recognition memory short-term recognition memory deficit MPheno.ontology MP:0014365 impaired short-term object recognition memory MP:0014365 impaired ability of short-term memory to recognize objects during the first few minutes after training PMID:38378836 enhanced ability of short-term memory to recognize objects during the first few minutes after training 2024-03-05T22:05:33Z increased short-term recognition memory MPheno.ontology MP:0014366 enhanced short-term object recognition memory MP:0014366 enhanced ability of short-term memory to recognize objects during the first few minutes after training PMID:38378836 impairment of the long-term memory for objects that is consolidated over hours and days after training 2024-03-05T22:05:51Z decreased long-term recognition memory long-term recognition memory deficit MPheno.ontology MP:0014367 impaired long-term object recognition memory MP:0014367 impairment of the long-term memory for objects that is consolidated over hours and days after training https://orcid.org/0000-0003-4606-0597 enhancement of the long-term memory for objects that is consolidated over hours and days after training 2024-03-05T22:06:07Z increased long-term recognition memory MPheno.ontology MP:0014368 enhanced long-term object recognition memory MP:0014368 enhancement of the long-term memory for objects that is consolidated over hours and days after training https://orcid.org/0000-0003-4606-0597 enhamced ability to spontaneously process spatial location information in order to navigate or perform other behavior using such location cues, without previous encounters or training at that location 2024-03-06T16:05:15Z increased spatial working memory MPheno.ontology MP:0014369 enhanced spatial working memory MP:0014369 enhamced ability to spontaneously process spatial location information in order to navigate or perform other behavior using such location cues, without previous encounters or training at that location https://orcid.org/0000-0003-4606-0597 impaired ability to spontaneously process spatial location information in order to navigate or perform other behavior using such location cues, without previous encounters or training at that location 2024-03-06T16:05:31Z decreased spatial working memory reduced spatial working memory spatial working memory deficit MPheno.ontology MP:0014370 impaired spatial working memory MP:0014370 impaired ability to spontaneously process spatial location information in order to navigate or perform other behavior using such location cues, without previous encounters or training at that location https://orcid.org/0000-0003-4606-0597 anomaly in the size (height or maximum displacement) or shape of the miniature excitatory postsynaptic current wave 2024-03-06T18:41:55Z abnormal mEPSC amplitude abnormal miniature excitatory post-synaptic current amplitude MPheno.ontology MP:0014371 abnormal miniature excitatory postsynaptic current amplitude MP:0014371 anomaly in the size (height or maximum displacement) or shape of the miniature excitatory postsynaptic current wave https://orcid.org/0000-0003-4606-0597 decrease in the size (height or maximum displacement) of the miniature excitatory postsynaptic current wave 2024-03-06T18:45:06Z reduced mEPSC amplitude reduced miniature excitatory post-synaptic current amplitude MPheno.ontology MP:0014372 decreased miniature excitatory postsynaptic current amplitude MP:0014372 decrease in the size (height or maximum displacement) of the miniature excitatory postsynaptic current wave https://orcid.org/0000-0003-4606-0597 increase in the size (height or maximum displacement) of the miniature excitatory postsynaptic current wave 2024-03-06T18:45:17Z elevated miniature excitatory post-synaptic current amplitude increased mEPSC amplitude MPheno.ontology MP:0014373 increased miniature excitatory postsynaptic current amplitude MP:0014373 increase in the size (height or maximum displacement) of the miniature excitatory postsynaptic current wave https://orcid.org/0000-0003-4606-0597 any anomaly in the number of occurrences of miniature excitatory postsynaptic currents per unit time 2024-03-06T18:50:56Z abnormal mEPSC frequency abnormal miniature excitatory post-synaptic current frequency MPheno.ontology MP:0014374 abnormal miniature excitatory postsynaptic current frequency MP:0014374 any anomaly in the number of occurrences of miniature excitatory postsynaptic currents per unit time https://orcid.org/0000-0003-4606-0597 increase in the number of occurrences of miniature excitatory postsynaptic currents per unit time 2024-03-06T18:51:05Z elevated miniature excitatory post-synaptic current frequency increased mEPSC frequency MPheno.ontology MP:0014375 increased miniature excitatory postsynaptic current frequency MP:0014375 increase in the number of occurrences of miniature excitatory postsynaptic currents per unit time https://orcid.org/0000-0003-4606-0597 decrease in the number of occurrences of miniature excitatory postsynaptic currents per unit time 2024-03-06T18:51:15Z reduced mEPSC frequency reduced miniature excitatory post-synaptic current frequency MPheno.ontology MP:0014376 decreased miniature excitatory postsynaptic current frequency MP:0014376 decrease in the number of occurrences of miniature excitatory postsynaptic currents per unit time https://orcid.org/0000-0003-4606-0597 any anomaly in the number of occurrences of excitatory postsynaptic currents per unit time 2024-03-06T19:00:35Z abnormal EPSC frequency abnormal excitatory post-synaptic current frequency MPheno.ontology MP:0014377 abnormal excitatory postsynaptic current frequency MP:0014377 any anomaly in the number of occurrences of excitatory postsynaptic currents per unit time https://orcid.org/0000-0003-4606-0597 increase in the number of occurrences of excitatory postsynaptic currents per unit time 2024-03-06T19:01:20Z elevated EPSC frequency increased excitatory post-synaptic current frequency MPheno.ontology MP:0014378 increased excitatory postsynaptic current frequency MP:0014378 increase in the number of occurrences of excitatory postsynaptic currents per unit time https://orcid.org/0000-0003-4606-0597 decrease in the number of occurrences of excitatory postsynaptic currents per unit time 2024-03-06T19:01:29Z decreased excitatory post-synaptic current frequency reduced EPSC frequency MPheno.ontology MP:0014379 decreased excitatory postsynaptic current frequency MP:0014379 decrease in the number of occurrences of excitatory postsynaptic currents per unit time https://orcid.org/0000-0003-4606-0597 anomaly in the size (height or maximum displacement) or shape of the miniature inhibitory postsynaptic current wave 2024-03-06T19:19:31Z abnormal mIPSC amplitude abnormal miniature inhibitory post-synaptic current amplitude abnormal sIPSC amplitude abnormal spontaneous inhibitory post-synaptic current amplitude MPheno.ontology MP:0014380 abnormal miniature inhibitory postsynaptic current amplitude MP:0014380 anomaly in the size (height or maximum displacement) or shape of the miniature inhibitory postsynaptic current wave https://orcid.org/0000-0003-4606-0597 any anomaly in the number of occurrences of miniature inhibitory postsynaptic currents per unit time 2024-03-06T19:19:41Z abnormal mIPSC frequency abnormal miniature inhibitory post-synaptic current frequency abnormal sIPSC frequency abnormal spontaneous inhibitory post-synaptic current frequency MPheno.ontology MP:0014381 abnormal miniature inhibitory postsynaptic current frequency MP:0014381 any anomaly in the number of occurrences of miniature inhibitory postsynaptic currents per unit time https://orcid.org/0000-0003-4606-0597 increase in the number of occurrences of miniature inhibitory postsynaptic currents per unit time 2024-03-06T19:20:02Z elevated mIPSC frequency increased miniature inhibitory post-synaptic current frequency increased sIPSC frequency increased spontaneous inhibitory post-synaptic current frequency MPheno.ontology MP:0014382 increased miniature inhibitory postsynaptic current frequency MP:0014382 increase in the number of occurrences of miniature inhibitory postsynaptic currents per unit time https://orcid.org/0000-0003-4606-0597 decrease in the number of occurrences of miniature inhibitory postsynaptic currents per unit time 2024-03-06T19:20:11Z decreased miniature inhibitory post-synaptic current frequency decreased sIPSC frequency decreased spontaneous inhibitory post-synaptic current frequency reduced mIPSC frequency MPheno.ontology MP:0014383 decreased miniature inhibitory postsynaptic current frequency MP:0014383 decrease in the number of occurrences of miniature inhibitory postsynaptic currents per unit time https://orcid.org/0000-0003-4606-0597 increase in the size (height or maximum displacement) of the miniature inhibitory postsynaptic current wave 2024-03-06T19:20:28Z elevated mIPSC amplitude increased miniature inhibitory post-synaptic current amplitude increased sIPSC amplitude increased spontaneous inhibitory post-synaptic current amplitude MPheno.ontology MP:0014384 increased miniature inhibitory postsynaptic current amplitude MP:0014384 increase in the size (height or maximum displacement) of the miniature inhibitory postsynaptic current wave https://orcid.org/0000-0003-4606-0597 decrease in the size (height or maximum displacement) of the miniature inhibitory postsynaptic current wave 2024-03-06T19:20:39Z decreased miniature inhibitory post-synaptic current amplitude decreased sIPSC amplitude decreased spontaneous inhibitory post-synaptic current amplitude reduced mIPSC amplitude MPheno.ontology MP:0014385 decreased miniature inhibitory postsynaptic current amplitude MP:0014385 decrease in the size (height or maximum displacement) of the miniature inhibitory postsynaptic current wave https://orcid.org/0000-0003-4606-0597 less than expected amount of DNA contained within the mitochondria of a muscle fiber 2024-03-06T20:05:22Z decreased muscle fiber mitochondrial genome size decreased muscle fiber mtDNA amount reduced muscle fiber mitochondrial DNA content MPheno.ontology MP:0014386 decreased muscle fiber mitochondrial DNA content MP:0014386 less than expected amount of DNA contained within the mitochondria of a muscle fiber https://orcid.org/0000-0003-4606-0597 less than expected amount of DNA contained within the mitochondria of a neuron 2024-03-06T20:05:45Z decreased neuron mitochondrial genome size decreased neuronal mtDNA amount reduced neuron mitochondrial DNA content MPheno.ontology MP:0014387 decreased neuron mitochondrial DNA content MP:0014387 less than expected amount of DNA contained within the mitochondria of a neuron https://orcid.org/0000-0003-4606-0597 less than expected amount of DNA contained within the mitochondria of a hepatocyte 2024-03-06T20:05:57Z decreased hepatocyte mitochondrial genome size decreased hepatocyte mtDNA amount reduced hepatocyte mitochondrial DNA content MPheno.ontology MP:0014388 decreased hepatocyte mitochondrial DNA content MP:0014388 less than expected amount of DNA contained within the mitochondria of a hepatocyte https://orcid.org/0000-0003-4606-0597 less than expected amount of DNA contained within the mitochondria of a skeletal muscle fiber 2024-03-06T20:07:32Z decreased skeletal muscle fiber mitochondrial genome size decreased skeletal muscle fiber mtDNA amount reduced skeletal muscle fiber mitochondrial DNA content MPheno.ontology MP:0014389 decreased skeletal muscle fiber mitochondrial DNA content MP:0014389 less than expected amount of DNA contained within the mitochondria of a skeletal muscle fiber https://orcid.org/0000-0003-4606-0597 less than expected amount of DNA contained within the mitochondria of a myocardial fiber 2024-03-06T20:07:52Z decreased adult cardiomyocyte mtDNA amount decreased myocardial fiber mitochondrial genome size reduced myocardial fiber mitochondrial DNA content MPheno.ontology MP:0014390 decreased myocardial fiber mitochondrial DNA content MP:0014390 less than expected amount of DNA contained within the mitochondria of a myocardial fiber https://orcid.org/0000-0003-4606-0597 greater than expected amount of DNA contained within the mitochondria of a hepatocyte 2024-03-06T20:08:23Z elevated hepatocyte mitochondrial DNA content increased hepatocyte mitochondrial genome size increased hepatocyte mtDNA amount MPheno.ontology MP:0014391 increased hepatocyte mitochondrial DNA content MP:0014391 greater than expected amount of DNA contained within the mitochondria of a hepatocyte https://orcid.org/0000-0003-4606-0597 greater than expected amount of DNA contained within the mitochondria of a neuron 2024-03-06T20:08:43Z elevated neuron mitochondrial DNA content increased neuron mitochondrial genome size increased neuron mtDNA amount MPheno.ontology MP:0014392 increased neuron mitochondrial DNA content MP:0014392 greater than expected amount of DNA contained within the mitochondria of a neuron https://orcid.org/0000-0003-4606-0597 greater than expected amount of DNA contained within the mitochondria of a muscle fiber 2024-03-06T20:08:56Z elevated muscle fiber mitochondrial DNA content increased muscle fiber mitochondrial genome size increased muscle fiber mtDNA amount MPheno.ontology MP:0014393 increased muscle fiber mitochondrial DNA content MP:0014393 greater than expected amount of DNA contained within the mitochondria of a muscle fiber https://orcid.org/0000-0003-4606-0597 greater than expected amount of DNA contained within the mitochondria of a skeletal muscle fiber 2024-03-06T20:09:13Z elevated skeletal muscle fiber mitochondrial DNA content increased skeletal muscle fiber mitochondrial genome size increased skeletal muscle fiber mtDNA amount MPheno.ontology MP:0014394 increased skeletal muscle fiber mitochondrial DNA content MP:0014394 greater than expected amount of DNA contained within the mitochondria of a skeletal muscle fiber https://orcid.org/0000-0003-4606-0597 greater than expected amount of DNA contained within the mitochondria of a myocardial fiber 2024-03-06T20:09:30Z elevated myocardial fiber mitochondrial DNA content increased adult cardiomyocyte mitochondrial genome size increased myocardial fiber mtDNA amount MPheno.ontology MP:0014395 increased myocardial fiber mitochondrial DNA content MP:0014395 greater than expected amount of DNA contained within the mitochondria of a myocardial fiber https://orcid.org/0000-0003-4606-0597 less than expected amount of DNA contained within the mitochondria of an adipocyte 2024-03-06T20:34:20Z decreased adipocyte mitochondrial genome size decreased lipocyte mtDNA amount reduced fat cell mitochondrial DNA content MPheno.ontology MP:0014396 decreased fat cell mitochondrial DNA content MP:0014396 less than expected amount of DNA contained within the mitochondria of an adipocyte https://orcid.org/0000-0003-4606-0597 greater than expected amount of DNA contained within the mitochondria of an adipocyte 2024-03-06T20:34:42Z elevated fat cell mitochondrial DNA content increased adipocyte mitochondrial genome size increased lipocyte mtDNA amount MPheno.ontology MP:0014397 increased fat cell mitochondrial DNA content MP:0014397 greater than expected amount of DNA contained within the mitochondria of an adipocyte https://orcid.org/0000-0003-4606-0597 any structural anomaly of the semiautonomous, self replicating organelles in fat cells 2024-03-06T20:42:08Z abnormal adipocyte mitochondria morphology abnormal lipocyte mitochondrion morphology MPheno.ontology MP:0014398 abnormal fat cell mitochondrial morphology MP:0014398 any structural anomaly of the semiautonomous, self replicating organelles in fat cells https://orcid.org/0000-0003-4606-0597 less than the expected number of a hematopoietic cell that is a precursor of some other hematopoietic cell type 2024-03-06T21:04:25Z decreased HPC number reduced haematopoietic precursor cell number MPheno.ontology MP:0014399 decreased hematopoietic precursor cell number MP:0014399 less than the expected number of a hematopoietic cell that is a precursor of some other hematopoietic cell type https://orcid.org/0000-0003-4606-0597 greater than the expected number of a hematopoietic cell that is a precursor of some other hematopoietic cell type 2024-03-06T21:04:37Z elevated haematopoietic precursor cell number increased HPC number MPheno.ontology MP:0014400 increased hematopoietic precursor cell number MP:0014400 greater than the expected number of a hematopoietic cell that is a precursor of some other hematopoietic cell type https://orcid.org/0000-0003-4606-0597 absence of all hematopoietic cells that are a precursor of some other hematopoietic cell type 2024-03-06T21:04:50Z absent HPCs absent haematopoietic precursor cell number MPheno.ontology MP:0014401 absent hematopoietic precursor cells MP:0014401 absence of all hematopoietic cells that are a precursor of some other hematopoietic cell type https://orcid.org/0000-0003-4606-0597 any structural anomaly in the acellular strand that runs from subcommissural organ caudally through the ventricular system and central canal to the ampulla caudalis 2024-03-06T21:25:21Z abnormal Reissner's fibre morphology MPheno.ontology MP:0014402 abnormal Reissner's fiber morphology MP:0014402 any structural anomaly in the acellular strand that runs from subcommissural organ caudally through the ventricular system and central canal to the ampulla caudalis PMID:38049798 http://purl.obolibrary.org/obo/UBERON_0011357 reduced number of cells in the B lymphocyte lineage that undergo D-J rearrangement of the immunoglobulin heavy chain 2024-03-21T20:44:23Z reduced number of early pro-B cells MPheno.ontology MP:0014403 decreased early pro-B cell number MP:0014403 reduced number of cells in the B lymphocyte lineage that undergo D-J rearrangement of the immunoglobulin heavy chain https://orcid.org/0000-0003-4606-0597 reduced number of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain 2024-03-21T20:44:55Z reduced number of late pro-B cells MPheno.ontology MP:0014404 decreased late pro-B cell number MP:0014404 reduced number of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain https://orcid.org/0000-0003-4606-0597 any anomaly in the sound pressure required to evoke distortion product emission signal reliably above the noise noise level 2024-03-22T19:16:00Z abnormal DPOAE threshold MPheno.ontology MP:0014405 abnormal distortion product otoacoustic emission threshold MP:0014405 any anomaly in the sound pressure required to evoke distortion product emission signal reliably above the noise noise level PMID:16901941 elevation in the sound pressure required to evoke distortion product emission signal reliably above the noise noise level or failure to evoke a response at the highest sound pressue tested 2024-03-22T19:26:28Z elvated or absent DPOAE threshold MPheno.ontology MP:0014406 increased or absent distortion product otoacoustic emission threshold MP:0014406 elevation in the sound pressure required to evoke distortion product emission signal reliably above the noise noise level or failure to evoke a response at the highest sound pressue tested PMID:16901941 decrease in the sound pressure required to evoke distortion product emission signal reliably above the noise noise level 2024-03-22T19:26:38Z reduced DPOAE threshold MPheno.ontology MP:0014407 decreased distortion product otoacoustic emission threshold MP:0014407 decrease in the sound pressure required to evoke distortion product emission signal reliably above the noise noise level PMID:16901941 anomaly in the size (height or maximum displacement) or shape of the sound wave produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies 2024-03-22T19:31:47Z abnormal DPOAE amplitude MPheno.ontology MP:0014408 abnormal distortion product otoacoustic emission amplitude MP:0014408 anomaly in the size (height or maximum displacement) or shape of the sound wave produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies PMID:10575115 PMID:16648588 reduction in the size (height or maximum displacement) of the sound wave produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies 2024-03-22T19:46:49Z reduced DPOAE amplitude MPheno.ontology MP:0014409 decreased distortion product otoacoustic emission amplitude MP:0014409 reduction in the size (height or maximum displacement) of the sound wave produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies PMID:16648588 increase in the size (height or maximum displacement) of the sound wave produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies 2024-03-22T19:46:58Z elevated DPOAE amplitude MPheno.ontology MP:0014410 increased distortion product otoacoustic emission amplitude MP:0014410 increase in the size (height or maximum displacement) of the sound wave produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies https://orcid.org/0000-0003-4606-0597 2024-03-22T20:08:51Z abnormal OHC stereocilia length any anomaly in the length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells MPheno.ontology MP:0014411 abnormal outer hair cell stereocilia length MP:0014411 any anomaly in the length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells https://orcid.org/0000-0003-4606-0597 increased length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cell 2024-03-22T20:15:14Z increased OHC stereocilia length MPheno.ontology MP:0014412 long outer hair cell stereocilia MP:0014412 increased length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cell https://orcid.org/0000-0003-4606-0597 reduced responses to a stressful situation or stimulus, or increased tendency to seek pleasurable stimuli 2024-03-22T20:35:52Z reduced depression-related behaviour MPheno.ontology MP:0014413 decreased depression-related behavior MP:0014413 reduced responses to a stressful situation or stimulus, or increased tendency to seek pleasurable stimuli https://orcid.org/0000-0003-4606-0597 elevated responses to a stressful situation or stimulus, or decreased tendency to seek pleasurable stimuli 2024-03-22T20:36:08Z elevated depression-related behaviour MPheno.ontology MP:0014414 increased depression-related behavior MP:0014414 elevated responses to a stressful situation or stimulus, or decreased tendency to seek pleasurable stimuli https://orcid.org/0000-0003-4606-0597 increase in the time spent with or preference for interactions with a novel individual of the same species versus with a familiar individual of the same species 2024-03-26T20:33:37Z elevated social novelty preference MPheno.ontology MP:0014415 increased social novelty preference MP:0014415 increase in the time spent with or preference for interactions with a novel individual of the same species versus with a familiar individual of the same species https://orcid.org/0000-0003-4606-0597 reduction in the time spent with or preference for interactions with a novel individual of the same species versus with a familiar individual of the same species 2024-03-26T20:33:57Z reduced social novelty preference MPheno.ontology MP:0014416 decreased social novelty preference MP:0014416 reduction in the time spent with or preference for interactions with a novel individual of the same species versus with a familiar individual of the same species https://orcid.org/0000-0003-4606-0597 any anomaly in the production or release of substances by cells of the liver 2024-03-27T14:13:19Z MPheno.ontology MP:0014417 abnormal liver secretion MP:0014417 any anomaly in the production or release of substances by cells of the liver http://purl.obolibrary.org/obo/GO_0046903 https://orcid.org/0000-0003-4606-0597 reduction in the production or release of substances by cells of the liver 2024-03-27T14:13:45Z reduced liver secretion MPheno.ontology MP:0014418 decreased liver secretion MP:0014418 reduction in the production or release of substances by cells of the liver https://orcid.org/0000-0003-4606-0597 increase in the production or release of substances by cells of the liver 2024-03-27T14:13:55Z elevated liver secretion MPheno.ontology MP:0014419 increased liver secretion MP:0014419 increase in the production or release of substances by cells of the liver https://orcid.org/0000-0003-4606-0597 any anomaly in the production or release of triglycerides by cells of the liver 2024-03-27T14:14:10Z MPheno.ontology MP:0014420 abnormal liver triglyceride secretion MP:0014420 any anomaly in the production or release of triglycerides by cells of the liver PMID:38194265 https://orcid.org/0000-0003-4606-0597 any anomaly in the production or release of apolipoprotein B by cells of the liver 2024-03-27T14:14:26Z MPheno.ontology MP:0014421 abnormal liver apolipoprotein B secretion MP:0014421 any anomaly in the production or release of apolipoprotein B by cells of the liver PMID:38194265 https://orcid.org/0000-0003-4606-0597 increase in the production or release of apolipoprotein B by cells of the liver 2024-03-27T14:15:23Z elevated liver apolipoprotein B secretion MPheno.ontology MP:0014422 increased liver apolipoprotein B secretion MP:0014422 increase in the production or release of apolipoprotein B by cells of the liver https://orcid.org/0000-0003-4606-0597 reduction in the production or release of apolipoprotein B by cells of the liver 2024-03-27T14:15:32Z reduced liver apolipoprotein B secretion MPheno.ontology MP:0014423 decreased liver apolipoprotein B secretion MP:0014423 reduction in the production or release of apolipoprotein B by cells of the liver https://orcid.org/0000-0003-4606-0597 increase in the production or release of triglycerides by cells of the liver 2024-03-27T14:15:50Z elevated liver triglyceride secretion MPheno.ontology MP:0014424 increased liver triglyceride secretion MP:0014424 increase in the production or release of triglycerides by cells of the liver https://orcid.org/0000-0003-4606-0597 reduction in the production or release of triglycerides by cells of the liver 2024-03-27T14:15:59Z reduced liver triglyceride secretion MPheno.ontology MP:0014425 decreased liver triglyceride secretion MP:0014425 reduction in the production or release of triglycerides by cells of the liver https://orcid.org/0000-0003-4606-0597 any anomaly in the amount of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine 2024-03-27T19:07:30Z abnormal hyaluronan level MPheno.ontology MP:0014426 abnormal hyaluronic acid level MP:0014426 any anomaly in the amount of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine https://orcid.org/0000-0003-4606-0597 more than the expected amount in the blood of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine 2024-03-27T19:12:20Z elevated circulating hyaluronan level MPheno.ontology MP:0014427 increased circulating hyaluronic acid level MP:0014427 more than the expected amount in the blood of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine https://orcid.org/0000-0003-4606-0597 less than the expected amount in the blood of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine 2024-03-27T19:12:30Z reduced circulating hyaluronan level MPheno.ontology MP:0014428 decreased circulating hyaluronic acid level MP:0014428 less than the expected amount in the blood of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine https://orcid.org/0000-0003-4606-0597 more than the expected amount of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine 2024-03-27T19:18:38Z elevated hyaluronan level MPheno.ontology MP:0014429 increased hyaluronic acid level MP:0014429 more than the expected amount of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine https://orcid.org/0000-0003-4606-0597 less than the expected amount of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine 2024-03-27T19:18:47Z reduced hyaluronan level MPheno.ontology MP:0014430 decreased hyaluronic acid level MP:0014430 less than the expected amount of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine https://orcid.org/0000-0003-4606-0597 more than the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes 2024-03-27T19:41:28Z elevated chemokine level MPheno.ontology MP:0014431 increased chemokine level MP:0014431 more than the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes https://orcid.org/0000-0003-4606-0597 less than the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes 2024-03-27T19:41:37Z reduced chemokine level MPheno.ontology MP:0014432 decreased chemokine level MP:0014432 less than the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes https://orcid.org/0000-0003-4606-0597 more than the normal levels of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells 2024-03-27T19:47:17Z elevated cytokine level MPheno.ontology MP:0014433 increased cytokine level MP:0014433 more than the normal levels of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells https://orcid.org/0000-0003-4606-0597 less than the normal levels of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells 2024-03-27T19:47:30Z reduced cytokine level MPheno.ontology MP:0014434 decreased cytokine level MP:0014434 less than the normal levels of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells https://orcid.org/0000-0003-4606-0597 more than the normal levels of of interferons 2024-03-27T19:53:00Z elevated interferon level MPheno.ontology MP:0014435 increased interferon level MP:0014435 more than the normal levels of of interferons https://orcid.org/0000-0003-4606-0597 less than the normal levels of of interferons 2024-03-27T19:53:10Z reduced interferon level MPheno.ontology MP:0014436 decreased interferon level MP:0014436 less than the normal levels of of interferons https://orcid.org/0000-0003-4606-0597 more than the normal levels of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types 2024-03-27T19:58:24Z elevated interleukin level MPheno.ontology MP:0014437 increased interleukin level MP:0014437 more than the normal levels of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types https://orcid.org/0000-0003-4606-0597 less than the normal levels of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types 2024-03-27T19:58:33Z reduced interleukin level MPheno.ontology MP:0014438 decreased interleukin level MP:0014438 less than the normal levels of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types https://orcid.org/0000-0003-4606-0597 any anomaly in the ability of leptin to modulate energy intake and energy expenditure 2024-04-17T20:48:53Z abnormal leptin resistance abnormal leptin sensitivity MPheno.ontology MP:0014439 abnormal response to leptin MP:0014439 any anomaly in the ability of leptin to modulate energy intake and energy expenditure PMID:34646989 greater than the expected ability of leptin to modulate energy intake and energy expenditure 2024-04-17T20:51:45Z decreased leptin resistance enhanced leptin sensitivity impaired leptin resistance increased leptin sensitivity MPheno.ontology MP:0014440 increased response to leptin MP:0014440 greater than the expected ability of leptin to modulate energy intake and energy expenditure PMID:34646989 less than the expected ability of leptin to modulate energy intake and energy expenditure 2024-04-17T20:51:59Z decreased leptin sensitivity enhanced leptin resistance impaired leptin sensitivity increased leptin resistance MPheno.ontology MP:0014441 decreased response to leptin MP:0014441 less than the expected ability of leptin to modulate energy intake and energy expenditure PMID:34646989 any anomaly in the cell cycle process in which two small cells are generated, as byproducts destined to degenerate, as a result of the first and second meiotic divisions of a primary oocyte during its development to a mature ovum 2024-04-18T14:21:49Z abnormal polar body extrusion after meiotic divisions MPheno.ontology MP:0014442 abnormal polar body extrusion MP:0014442 any anomaly in the cell cycle process in which two small cells are generated, as byproducts destined to degenerate, as a result of the first and second meiotic divisions of a primary oocyte during its development to a mature ovum GO:0040038 impaired or reduced function of the cell cycle process in which two small cells are generated, as byproducts destined to degenerate, as a result of the first and second meiotic divisions of a primary oocyte during its development to a mature ovum 2024-04-18T14:22:04Z reduced polar body extrusion after meiotic divisions MPheno.ontology MP:0014443 impaired polar body extrusion MP:0014443 impaired or reduced function of the cell cycle process in which two small cells are generated, as byproducts destined to degenerate, as a result of the first and second meiotic divisions of a primary oocyte during its development to a mature ovum GO:0040038 PMID:38546043 enhanced or increased function of the cell cycle process in which two small cells are generated, as byproducts destined to degenerate, as a result of the first and second meiotic divisions of a primary oocyte during its development to a mature ovum 2024-04-18T14:22:18Z increased polar body extrusion after meiotic divisions MPheno.ontology MP:0014444 enhanced polar body extrusion MP:0014444 enhanced or increased function of the cell cycle process in which two small cells are generated, as byproducts destined to degenerate, as a result of the first and second meiotic divisions of a primary oocyte during its development to a mature ovum GO:0040038 any anomaly in the aggregation, arrangement and bonding together of a set of components to form the spindle during a meiotic cell cycle in females 2024-04-18T14:31:08Z abnormal female meiotic spindle assembly abnormal spindle assembly involved in female meiosis MPheno.ontology MP:0014445 abnormal spindle assembly in female meiosis MP:0014445 any anomaly in the aggregation, arrangement and bonding together of a set of components to form the spindle during a meiotic cell cycle in females GO:0007056 enhancement of the aggregation, arrangement and bonding together of a set of components to form the spindle during a meiotic cell cycle in females 2024-04-18T14:31:24Z improved female meiotic spindle assembly increased spindle assembly involved in female meiosis MPheno.ontology MP:0014446 enhanced spindle assembly in female meiosis MP:0014446 enhancement of the aggregation, arrangement and bonding together of a set of components to form the spindle during a meiotic cell cycle in females GO:0007056 impairment of the aggregation, arrangement and bonding together of a set of components to form the spindle during a meiotic cell cycle in females 2024-04-18T14:31:43Z decreased female meiotic spindle assembly reduced spindle assembly involved in female meiosis MPheno.ontology MP:0014447 impaired spindle assembly in female meiosis MP:0014447 impairment of the aggregation, arrangement and bonding together of a set of components to form the spindle during a meiotic cell cycle in females GO:0007056 elevated level of any enzyme or their cofactors, that act as catalysts to induce chemical changes in other substances 2024-04-18T18:01:13Z elevated enzyme/coenzyme level MPheno.ontology MP:0014448 increased enzyme/coenzyme level MP:0014448 elevated level of any enzyme or their cofactors, that act as catalysts to induce chemical changes in other substances https://orcid.org/0000-0003-4606-0597 reduced level of any enzyme or their cofactors, that act as catalysts to induce chemical changes in other substances 2024-04-18T18:01:30Z reduced enzyme/coenzyme level MPheno.ontology MP:0014449 decreased enzyme/coenzyme level MP:0014449 reduced level of any enzyme or their cofactors, that act as catalysts to induce chemical changes in other substances https://orcid.org/0000-0003-4606-0597 elevated concentration in the blood of any of the proteins that act as catalysts for biological reactions 2024-04-18T18:08:47Z elevated circulating enzyme level MPheno.ontology MP:0014450 increased circulating enzyme level MP:0014450 elevated concentration in the blood of any of the proteins that act as catalysts for biological reactions https://orcid.org/0000-0003-4606-0597 reduced concentration in the blood of any of the proteins that act as catalysts for biological reactions 2024-04-18T18:08:56Z reduced circulating enzyme level MPheno.ontology MP:0014451 decreased circulating enzyme level MP:0014451 reduced concentration in the blood of any of the proteins that act as catalysts for biological reactions https://orcid.org/0000-0003-4606-0597 increase in the concentration of the enzyme(s) that catalyzes the synthesis of nitric oxide from L-arginine 2024-04-18T18:53:08Z elevated ntric oxide synthase concentration MPheno.ontology MP:0014452 increased nitric oxide synthase level MP:0014452 increase in the concentration of the enzyme(s) that catalyzes the synthesis of nitric oxide from L-arginine https://orcid.org/0000-0003-4606-0597 decrease in the concentration of the enzyme(s) that catalyzes the synthesis of nitric oxide from L-arginine 2024-04-18T18:53:17Z reduced ntric oxide synthase concentration MPheno.ontology MP:0014453 decreased nitric oxide synthase level MP:0014453 decrease in the concentration of the enzyme(s) that catalyzes the synthesis of nitric oxide from L-arginine https://orcid.org/0000-0003-4606-0597 elevation in the tissue or circulating concentration of any substance, usually a peptide or steroid, that has a specific metabolic regulatory effect on the activity or behavior of cells expressing a receptor for the hormone 2024-04-18T19:33:14Z elevated hormone level MPheno.ontology MP:0014454 increased hormone level MP:0014454 elevation in the tissue or circulating concentration of any substance, usually a peptide or steroid, that has a specific metabolic regulatory effect on the activity or behavior of cells expressing a receptor for the hormone https://orcid.org/0000-0003-4606-0597 reduction in the tissue or circulating concentration of any substance, usually a peptide or steroid, that has a specific metabolic regulatory effect on the activity or behavior of cells expressing a receptor for the hormone 2024-04-18T19:33:26Z reduced hormone level MPheno.ontology MP:0014455 decreased hormone level MP:0014455 reduction in the tissue or circulating concentration of any substance, usually a peptide or steroid, that has a specific metabolic regulatory effect on the activity or behavior of cells expressing a receptor for the hormone https://orcid.org/0000-0003-4606-0597 increase in the blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organ 2024-04-18T19:41:45Z elevated circulating hormone concentration MPheno.ontology MP:0014456 increased circulating hormone level MP:0014456 increase in the blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organ https://orcid.org/0000-0003-4606-0597 reduction in the blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organ 2024-04-18T19:41:57Z reduced circulating hormone concentration MPheno.ontology MP:0014457 decreased circulating hormone level MP:0014457 reduction in the blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organ https://orcid.org/0000-0003-4606-0597 elevation in the urine amount of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs 2024-04-18T20:19:41Z elevated urine hormone concentration MPheno.ontology MP:0014458 increased urine hormone level MP:0014458 elevation in the urine amount of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs https://orcid.org/0000-0003-4606-0597 reduction in the urine amount of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs 2024-04-18T20:19:55Z reduced urine hormone concentration MPheno.ontology MP:0014459 decreased urine hormone level MP:0014459 reduction in the urine amount of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs https://orcid.org/0000-0003-4606-0597 increase in the concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body 2024-04-23T19:59:12Z elevated lipid concentration increased lipid storage MPheno.ontology MP:0014460 increased lipid level MP:0014460 increase in the concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body https://orcid.org/0000-0003-4606-0597 reduction in the concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body 2024-04-23T19:59:23Z reduced lipid concentration decreased lipid storage MPheno.ontology MP:0014461 decreased lipid level MP:0014461 reduction in the concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body https://orcid.org/0000-0003-4606-0597 anomaly in the size of the sperm mitochondrial sheath 2024-05-28T17:39:02Z MPheno.ontology MP:0014462 abnormal sperm mitochondrial sheath size MP:0014462 anomaly in the size of the sperm mitochondrial sheath https://orcid.org/0000-0003-4606-0597 increased size of the sperm mitochondrial sheath 2024-05-28T17:43:02Z enlarged sperm mitochondrial sheath MPheno.ontology MP:0014463 increased sperm mitochondrial sheath size MP:0014463 increased size of the sperm mitochondrial sheath https://orcid.org/0000-0003-4606-0597 decreased size of the sperm mitochondrial sheath 2024-05-28T17:43:33Z reduced sperm mitochondrial sheath size small sperm mitochondrial sheath MPheno.ontology MP:0014464 decreased sperm mitochondrial sheath size MP:0014464 decreased size of the sperm mitochondrial sheath https://orcid.org/0000-0003-4606-0597 any structural anomaly of the semiautonomous, self replicating organelles in the sperm mitochondrial sheath 2024-05-28T17:50:09Z abnormal sperm mitochondria morphology MPheno.ontology MP:0014465 abnormal sperm mitochondrial morphology MP:0014465 any structural anomaly of the semiautonomous, self replicating organelles in the sperm mitochondrial sheath https://orcid.org/0000-0003-4606-0597 reduced size of the cellular organelles responsible for energy production in the sperm mitochondrial sheath 2024-05-28T17:51:09Z reduced sperm mitochondrion size small sperm mitochondria MPheno.ontology MP:0014466 decreased sperm mitochondrial size MP:0014466 reduced size of the cellular organelles responsible for energy production in the sperm mitochondrial sheath https://orcid.org/0000-0003-4606-0597 increased size of the cellular organelles responsible for energy production in the sperm mitochondrial sheath 2024-05-28T17:51:26Z enlarged sperm mitochondria MPheno.ontology MP:0014467 increased sperm mitochondrial size MP:0014467 increased size of the cellular organelles responsible for energy production in the sperm mitochondrial sheath https://orcid.org/0000-0003-4606-0597 derangement of the normal tightly packed helical pattern of the sperm mitochondrial sheath 2024-05-28T18:37:20Z disorganised sperm mitochondrial sheath MPheno.ontology MP:0014468 disorganized sperm mitochondrial sheath MP:0014468 derangement of the normal tightly packed helical pattern of the sperm mitochondrial sheath https://orcid.org/0000-0003-4606-0597 any anomaly in the processes involved in the maintenance of an internal equilibrium of calcium ions within the B cells 2024-05-28T19:07:29Z abnormal B cell calcium homeostasis abnormal B cell calcium flux MPheno.ontology MP:0014469 abnormal B cell calcium ion homeostasis MP:0014469 any anomaly in the processes involved in the maintenance of an internal equilibrium of calcium ions within the B cells https://orcid.org/0000-0003-4606-0597 any anomaly in the ability of B cells to move within or between different tissues and organs of the body 2024-05-28T19:15:52Z abnormal B lymphocyte trafficking MPheno.ontology MP:0014470 abnormal B cell migration MP:0014470 any anomaly in the ability of B cells to move within or between different tissues and organs of the body https://orcid.org/0000-0003-4606-0597 enhanced ability of B cells to move within or between different tissues and organs of the body 2024-05-28T19:24:26Z increased B lymphocyte trafficking MPheno.ontology MP:0014471 enhanced B cell migration MP:0014471 enhanced ability of B cells to move within or between different tissues and organs of the body https://orcid.org/0000-0003-4606-0597 impaired ability of B cells to move within or between different tissues and organs of the body 2024-05-28T19:24:41Z reduced B cell migration decreased B lymphocyte trafficking MPheno.ontology MP:0014472 impaired B cell migration MP:0014472 impaired ability of B cells to move within or between different tissues and organs of the body https://orcid.org/0000-0003-4606-0597 increase in the width of the tissue that encloses the alveolar space of the lung 2024-06-07T20:47:13Z thick pulmonary alveolar wall MPheno.ontology MP:0014473 increased pulmonary alveolus wall thickness MP:0014473 increase in the width of the tissue that encloses the alveolar space of the lung PMID:37890669 https://orcid.org/0000-0003-4606-0597 decrease in the width of the tissue that encloses the alveolar space of the lung 2024-06-07T20:47:42Z reduced pulmonary alveolus wall thickness thin pulmonary alveolar wall MPheno.ontology MP:0014474 decreased pulmonary alveolus wall thickness MP:0014474 decrease in the width of the tissue that encloses the alveolar space of the lung PMID:37890669 https://orcid.org/0000-0003-4606-0597 any anomaly in the amount of bile acids found in the feces 2024-06-18T15:35:57Z abnormal faeces bile amount abnormal fecal bile acid level abnormal feces bile salt content MPheno.ontology MP:0014475 abnormal feces bile salt level MP:0014475 any anomaly in the amount of bile acids found in the feces PMID:12819193 any anomaly in the concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the feces 2024-06-18T15:42:54Z abnormal faeces lipid amount abnormal feces lipid content MPheno.ontology MP:0014476 abnormal feces lipid level MP:0014476 any anomaly in the concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the feces PMID:18335062 anomaly in the amount in the feces of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones 2024-06-18T17:27:35Z abnormal faeces cholesterol amount abnormal feces cholesterol content MPheno.ontology MP:0014477 abnormal feces cholesterol level MP:0014477 anomaly in the amount in the feces of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones PMID:12915407 increase in the amount of bile acids found in the feces 2024-06-18T17:33:36Z elevated faeces bile salt amount increased feces bile salt content MPheno.ontology MP:0014478 increased feces bile salt level MP:0014478 increase in the amount of bile acids found in the feces PMID:12819193 reduced amount of bile acids found in the feces 2024-06-18T17:33:45Z decreased feces bile salt content reduced faeces bile salt amount MPheno.ontology MP:0014479 decreased feces bile salt level MP:0014479 reduced amount of bile acids found in the feces PMID:12819193 elevated amount in the feces of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones 2024-06-18T17:34:07Z increased faeces cholesterol amount increased feces cholesterol content MPheno.ontology MP:0014480 increased feces cholesterol level MP:0014480 elevated amount in the feces of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones PMID:12915407 reduced amount in the feces of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones 2024-06-18T17:34:21Z decreased feces cholesterol content reduced faeces cholesterol amount MPheno.ontology MP:0014481 decreased feces cholesterol level MP:0014481 reduced amount in the feces of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones PMID:12915407 any anomaly in the amount of water in the feces 2024-06-18T19:57:43Z abnormal faeces water level MPheno.ontology MP:0014482 abnormal feces water content MP:0014482 any anomaly in the amount of water in the feces PMID:19075008 increase in the amount of water in the feces 2024-06-18T19:58:05Z increased faeces water level MPheno.ontology MP:0014483 increased feces water content MP:0014483 increase in the amount of water in the feces PMID:19075008 decrease in the amount of water in the feces 2024-06-18T19:58:22Z reduced faeces water level MPheno.ontology MP:0014484 decreased feces water content MP:0014484 decrease in the amount of water in the feces PMID:19075008 any anomaly in the part of the miniature postsynaptic current wave that occurs after the peak amplitude during the return to baseline 2024-06-21T16:08:27Z MPheno.ontology MP:0014485 abnormal miniature inhibitory postsynaptic current decay phase MP:0014485 any anomaly in the part of the miniature postsynaptic current wave that occurs after the peak amplitude during the return to baseline PMID:26291161 increase in the duration of the part of the miniature postsynaptic current wave that occurs after the peak amplitude during the return to baseline 2024-06-21T16:08:53Z increased miniature inhibitory postsynaptic current decay time MPheno.ontology MP:0014486 prolonged miniature inhibitory postsynaptic current decay phase MP:0014486 increase in the duration of the part of the miniature postsynaptic current wave that occurs after the peak amplitude during the return to baseline PMID:26291161 decrease in the duration of the part of the miniature postsynaptic current wave that occurs after the peak amplitude during the return to baseline 2024-06-21T16:09:44Z decreased miniature inhibitory postsynaptic current decay time MPheno.ontology MP:0014487 reduced miniature inhibitory postsynaptic current decay phase MP:0014487 decrease in the duration of the part of the miniature postsynaptic current wave that occurs after the peak amplitude during the return to baseline PMID:26291161 any anomaly in the placement, morphology or number of sensory nerve fibers in the skin 2024-06-21T17:49:51Z abnormal skin sensory neuron projections MPheno.ontology MP:0014488 abnormal skin sensory neuron innervation pattern MP:0014488 any anomaly in the placement, morphology or number of sensory nerve fibers in the skin PMID:18830272 https://orcid.org/0000-0003-4606-0597 any anomaly in the placement, morphology or number of sensory nerve fibers in the cochlea 2024-06-21T17:54:36Z abnormal cochlea sensory neuron projections MPheno.ontology MP:0014489 abnormal cochlear sensory neuron innervation pattern MP:0014489 any anomaly in the placement, morphology or number of sensory nerve fibers in the cochlea PMID:7588071 any anomaly in the placement, morphology or number sensory nerve fibers in the vestibule of the inner ear 2024-06-21T18:01:09Z abnormal inner ear vestibular sensory neuron projections abnormal inner ear vestibule sensory neuron innervation pattern MPheno.ontology MP:0014490 abnormal inner ear vestibular sensory neuron innervation pattern MP:0014490 any anomaly in the placement, morphology or number sensory nerve fibers in the vestibule of the inner ear PMID:11877382 any anomaly in the placement, morphology or number of sensory nerve fibers in the mammary gland 2024-06-21T18:20:13Z abnormal mammary gland sensory neuron projections MPheno.ontology MP:0014491 abnormal mammary gland sensory innervation pattern MP:0014491 any anomaly in the placement, morphology or number of sensory nerve fibers in the mammary gland PMID:23224557 any anomaly in the placement, morphology or number of axons from retinal neurons to an effector tissue or to retinal targets in the brain 2024-06-21T18:37:04Z abnormal retina sensory neuron innervation pattern abnormal retinal sensory neuron projections MPheno.ontology MP:0014492 abnormal retinal sensory neuron innervation pattern MP:0014492 any anomaly in the placement, morphology or number of axons from retinal neurons to an effector tissue or to retinal targets in the brain PMID:15014130 increase in the blood levels of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells 2024-06-21T19:04:54Z MPheno.ontology MP:0014493 increased circulating cytokine level MP:0014493 increase in the blood levels of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells https://orcid.org/0000-0003-4606-0597 reduction in the blood levels of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells 2024-06-21T19:05:14Z reduced circulating cytokine level MPheno.ontology MP:0014494 decreased circulating cytokine level MP:0014494 reduction in the blood levels of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells https://orcid.org/0000-0003-4606-0597 elevated levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes in the circulation 2024-06-21T19:12:54Z elevated circulating chemokine level MPheno.ontology MP:0014495 increased circulating chemokine level MP:0014495 elevated levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes in the circulation https://orcid.org/0000-0003-4606-0597 reduction in the levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes in the circulation 2024-06-21T19:13:06Z reduced circulating chemokine level MPheno.ontology MP:0014496 decreased circulating chemokine level MP:0014496 reduction in the levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes in the circulation https://orcid.org/0000-0003-4606-0597 increase in the amount in the blood of soluble factors which stimulate growth-related activities of leukocytes as well as other cell type 2024-06-21T19:23:56Z elevated circulating IL level MPheno.ontology MP:0014497 increased circulating interleukin level MP:0014497 increase in the amount in the blood of soluble factors which stimulate growth-related activities of leukocytes as well as other cell type https://orcid.org/0000-0003-4606-0597 decrease in the amount in the blood of soluble factors which stimulate growth-related activities of leukocytes as well as other cell type 2024-06-21T19:24:16Z reduced circulating IL level MPheno.ontology MP:0014498 decreased circulating interleukin level MP:0014498 decrease in the amount in the blood of soluble factors which stimulate growth-related activities of leukocytes as well as other cell type https://orcid.org/0000-0003-4606-0597 increase in the normal levels of the series of proteins found in the blood shortly after infection and which participate in the early phases of host defense against infection 2024-06-21T20:11:25Z MPheno.ontology MP:0014499 increased acute phase protein level MP:0014499 increase in the normal levels of the series of proteins found in the blood shortly after infection and which participate in the early phases of host defense against infection https://orcid.org/0000-0003-4606-0597 reduction in the normal levels of the series of proteins found in the blood shortly after infection and which participate in the early phases of host defense against infection 2024-06-21T20:11:35Z MPheno.ontology MP:0014500 decreased acute phase protein level MP:0014500 reduction in the normal levels of the series of proteins found in the blood shortly after infection and which participate in the early phases of host defense against infection https://orcid.org/0000-0003-4606-0597 increase in the amount in the blood of any of the macromolecules consisting of long chains of amino acids in peptide linkage 2024-06-21T20:18:23Z MPheno.ontology MP:0014501 increased circulating protein level MP:0014501 increase in the amount in the blood of any of the macromolecules consisting of long chains of amino acids in peptide linkage https://orcid.org/0000-0003-4606-0597 reduction in the amount in the blood of any of the macromolecules consisting of long chains of amino acids in peptide linkage 2024-06-21T20:18:42Z MPheno.ontology MP:0014502 decreased circulating protein level MP:0014502 reduction in the amount in the blood of any of the macromolecules consisting of long chains of amino acids in peptide linkage https://orcid.org/0000-0003-4606-0597 decreased blood level of myoglobin, a low molecular weight oxygen binding heme protein that is normally found exclusively in heart and skeletal muscle cells; in blood, myoglobin is bound primarily to plasma globulins, a complex which is filtered by the kidneys; if the plasma concentration exceeds the plasma binding capacity, myoglobin begins to appear in the urine; myoglobin is rapidly released into the bloodstream after muscle damage, and thus can be a useful biomarker in the early phases of heart or skeletal muscle injury 2024-06-21T20:53:40Z reduced circulating myoglobin level MPheno.ontology MP:0014503 decreased circulating myoglobin level MP:0014503 decreased blood level of myoglobin, a low molecular weight oxygen binding heme protein that is normally found exclusively in heart and skeletal muscle cells; in blood, myoglobin is bound primarily to plasma globulins, a complex which is filtered by the kidneys; if the plasma concentration exceeds the plasma binding capacity, myoglobin begins to appear in the urine; myoglobin is rapidly released into the bloodstream after muscle damage, and thus can be a useful biomarker in the early phases of heart or skeletal muscle injury ISBN:9780124157590 reduced concentration in the blood of procalcitonin, a peptide precursor of the hormone calcitonin produced by parafollicular cells (C cells) of the thyroid and by the neuroendocrine cells of the lung and the intestine; the level of procalcitonin is virtually undetectable in the bloodstream of healthy individuals but can rise significantly in systemic bacterial infections and sepsis; it does not rise significantly with viral or non-infectious inflammations 2024-06-21T20:56:49Z reduced circulating procalcitonin level MPheno.ontology MP:0014504 decreased circulating procalcitonin level MP:0014504 reduced concentration in the blood of procalcitonin, a peptide precursor of the hormone calcitonin produced by parafollicular cells (C cells) of the thyroid and by the neuroendocrine cells of the lung and the intestine; the level of procalcitonin is virtually undetectable in the bloodstream of healthy individuals but can rise significantly in systemic bacterial infections and sepsis; it does not rise significantly with viral or non-infectious inflammations https://en.wikipedia.org/wiki/Procalcitonin any structural anomaly in the cells found in the zone occupying the bottom region of the crypt that provide the source of most of the cell types of the intestinal epithelium, proliferate by mitotic division, and differentiate into columnar or goblet cells 2024-07-02T19:54:25Z abnormal stem cell of intestinal crypt of Lieberkuhn morphology MPheno.ontology MP:0014505 abnormal intestinal crypt stem cell morphology MP:0014505 any structural anomaly in the cells found in the zone occupying the bottom region of the crypt that provide the source of most of the cell types of the intestinal epithelium, proliferate by mitotic division, and differentiate into columnar or goblet cells http://purl.obolibrary.org/obo/CL_0002250 any anomaly in the number of intestinal crypt stem cells 2024-07-02T19:58:35Z abnormal stem cell of intestinal crypt of Leberkuhn number MPheno.ontology MP:0014506 abnormal intestinal crypt stem cell number MP:0014506 any anomaly in the number of intestinal crypt stem cells PMID:22354172 increase in the number of intestinal crypt stem cells 2024-07-02T20:02:53Z elevated stem cell of intestinal crypt of Lieberkuhn number MPheno.ontology MP:0014507 increased intestinal crypt stem cell number MP:0014507 increase in the number of intestinal crypt stem cells PMID:22354172 reduction in the number of intestinal crypt stem cells 2024-07-02T20:03:02Z reduced stem cell of intestinal crypt of Lieberkuhn number MPheno.ontology MP:0014508 decreased intestinal crypt stem cell number MP:0014508 reduction in the number of intestinal crypt stem cells PMID:22354172 any functional anomaly in the cells found in the zone occupying the bottom region of the crypt that provide the source of most of the cell types of the intestinal epithelium, proliferate by mitotic division, and differentiate into columnar or goblet cells 2024-07-02T20:14:22Z abnormal stem cell of intestinal crypt of Lieberkuhn physiology MPheno.ontology MP:0014509 abnormal intestinal crypt stem cell physiology MP:0014509 any functional anomaly in the cells found in the zone occupying the bottom region of the crypt that provide the source of most of the cell types of the intestinal epithelium, proliferate by mitotic division, and differentiate into columnar or goblet cells http://purl.obolibrary.org/obo/CL_0002250 any anomaly in the ability of intestinal crypt stem cells to undergo expansion by cell division 2024-07-02T20:22:27Z abnormal stem cell of intestinal crypt of Lieberkuhn proliferation MPheno.ontology MP:0014510 abnormal intestinal crypt stem cell proliferation MP:0014510 any anomaly in the ability of intestinal crypt stem cells to undergo expansion by cell division PMID:38558797 increase in the ability of intestinal crypt stem cells to undergo expansion by cell division 2024-07-02T20:25:34Z elevated stem cell of intestinal crypt of Lieberkuhn proliferation MPheno.ontology MP:0014511 increased intestinal crypt stem cell proliferation MP:0014511 increase in the ability of intestinal crypt stem cells to undergo expansion by cell division PMID:38558797 reduction in the ability of intestinal crypt stem cells to undergo expansion by cell division 2024-07-02T20:25:49Z reduced stem cell of intestinal crypt of Lieberkuhn proliferation MPheno.ontology MP:0014512 decreased intestinal crypt stem cell proliferation MP:0014512 reduction in the ability of intestinal crypt stem cells to undergo expansion by cell division PMID:38558797 any anomaly in the concentration in the blood of the heterodimeric glycoprotein hormone that plays an essential role in sex determination in early embryonic development 2024-08-06T17:05:02Z aberrant circulating anti-Mullerian hormone concentration abnormal circulating AMH level MPheno.ontology MP:0014513 abnormal circulating anti-Mullerian hormone level MP:0014513 any anomaly in the concentration in the blood of the heterodimeric glycoprotein hormone that plays an essential role in sex determination in early embryonic development PMID:34924282 PMID:36498783 increase in the concentration in the blood of the heterodimeric glycoprotein hormone that plays an essential role in sex determination in early embryonic development 2024-08-06T17:05:17Z elevated circulating AMH concentration MPheno.ontology MP:0014514 increased circulating anti-Mullerian hormone level MP:0014514 increase in the concentration in the blood of the heterodimeric glycoprotein hormone that plays an essential role in sex determination in early embryonic development PMID:34256052 reduction in the concentration in the blood of the heterodimeric glycoprotein hormone that plays an essential role in sex determination in early embryonic development 2024-08-06T17:05:30Z reduced circulating AMH concentration MPheno.ontology MP:0014515 decreased circulating anti-Mullerian hormone level MP:0014515 reduction in the concentration in the blood of the heterodimeric glycoprotein hormone that plays an essential role in sex determination in early embryonic development PMID:34256052 any anomaly in the development of the structures of any components of the tympanic cavity or its ossicles 2024-08-06T17:38:13Z MPheno.ontology MP:0014516 abnormal middle ear development MP:0014516 any anomaly in the development of the structures of any components of the tympanic cavity or its ossicles https://orcid.org/0000-0003-4606-0597 any anomaly in the development of any of the components of the auricles or external acoustic meatus 2024-08-06T17:38:27Z MPheno.ontology MP:0014517 abnormal outer ear development MP:0014517 any anomaly in the development of any of the components of the auricles or external acoustic meatus https://orcid.org/0000-0003-4606-0597 presence of prominent trabeculations and deep intratrabecular recesses in the wall of the heart; the recesses communicate with the main chamber and in some cases with the coronary circulation 2024-08-07T19:01:26Z myocardial noncompaction MPheno.ontology MP:0014518 myocardial hypertrabeculation MP:0014518 presence of prominent trabeculations and deep intratrabecular recesses in the wall of the heart; the recesses communicate with the main chamber and in some cases with the coronary circulation PMID:28798025 PMID:34206037 https://doi.org/10.1161/01.CIR.0000132478.60674.D https://doi.org/10.1161/circ.105.9.e5 presence of prominent trabeculations and deep intratrabecular recesses in the wall of the ventricle; the recesses communicate with the main chamber and in some cases with the coronary circulation 2024-08-07T19:01:46Z myocardial ventricular noncompaction MPheno.ontology MP:0014519 myocardial ventricular hypertrabeculation MP:0014519 presence of prominent trabeculations and deep intratrabecular recesses in the wall of the ventricle; the recesses communicate with the main chamber and in some cases with the coronary circulation PMID:28798025 PMID:38951485 presence of prominent trabeculations and deep intratrabecular recesses in the wall of the atrium; the recesses communicate with the main chamber and in some cases with the coronary circulation 2024-08-07T19:01:59Z myocardial atrial noncompaction MPheno.ontology MP:0014520 myocardial atrial hypertrabeculation MP:0014520 presence of prominent trabeculations and deep intratrabecular recesses in the wall of the atrium; the recesses communicate with the main chamber and in some cases with the coronary circulation PMID:34206037 PMID:38951485 altered response to acquired brain injury, including trauma caused by physical means (e.g. shocks, concussions, or incisions), lack of adequate blood flow, exposure to toxins or cold-induced stress, pressure from a tumor, etc 2024-08-07T19:42:09Z abnormal susceptibility to brain injury MPheno.ontology MP:0014521 abnormal response to brain injury MP:0014521 altered response to acquired brain injury, including trauma caused by physical means (e.g. shocks, concussions, or incisions), lack of adequate blood flow, exposure to toxins or cold-induced stress, pressure from a tumor, etc https://orcid.org/0000-0002-6490-7723 less severe response, such as decreased incidence and/or size of necrotic tissue, to acquired brain injury, including trauma caused by physical means (e.g. shocks, concussions, or incisions), lack of adequate blood flow, exposure to toxins or cold-induced stress, pressure from a tumor, etc 2024-08-07T19:43:16Z reduced response to brain injury decreased susceptibility to brain injury elevated resistance to brain injury reduced susceptibility to brain injury MPheno.ontology MP:0014522 decreased response to brain injury MP:0014522 less severe response, such as decreased incidence and/or size of necrotic tissue, to acquired brain injury, including trauma caused by physical means (e.g. shocks, concussions, or incisions), lack of adequate blood flow, exposure to toxins or cold-induced stress, pressure from a tumor, etc https://orcid.org/0000-0002-6490-7723 more severe response, such as increased incidence and/or size of necrotic tissue, to acquired brain injury, including trauma caused by physical means (e.g. shocks, concussions, or incisions), lack of adequate blood flow, exposure to toxins or cold-induced stress, pressure from a tumor, etc. 2024-08-07T19:43:27Z enhanced response to brain injury decreased resistance to brain injury elevated susceptibility to brain injury reduced resistance to brain injury MPheno.ontology MP:0014523 increased response to brain injury MP:0014523 more severe response, such as increased incidence and/or size of necrotic tissue, to acquired brain injury, including trauma caused by physical means (e.g. shocks, concussions, or incisions), lack of adequate blood flow, exposure to toxins or cold-induced stress, pressure from a tumor, etc. https://orcid.org/0000-0002-6490-7723 any anomaly in the processes by which fluid is moved across the alveolar epithelium, this reabsorption is dependent on active ion transport 2024-08-07T20:24:33Z MPheno.ontology MP:0014524 abnormal pulmonary alveolar fluid clearance MP:0014524 any anomaly in the processes by which fluid is moved across the alveolar epithelium, this reabsorption is dependent on active ion transport PMID:27064541 PMID:36688689 reduction in the processes by which fluid is moved across the alveolar epithelium, this reabsorption is dependent on active ion transport 2024-08-07T20:24:50Z decreased alveolar fluid clearance reduced alveolar fluid clearance MPheno.ontology MP:0014525 impaired pulmonary alveolar fluid clearance MP:0014525 reduction in the processes by which fluid is moved across the alveolar epithelium, this reabsorption is dependent on active ion transport PMID:27064541 increase in the processes by which fluid is moved across the alveolar epithelium, this reabsorption is dependent on active ion transport 2024-08-07T20:25:04Z elevated alveolar fluid clearance increased alveolar fluid clearance MPheno.ontology MP:0014526 enhanced pulmonary alveolar fluid clearance MP:0014526 increase in the processes by which fluid is moved across the alveolar epithelium, this reabsorption is dependent on active ion transport PMID:27064541 increase in the amount of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group 2024-08-07T20:53:12Z elevated amino acid level MPheno.ontology MP:0014527 increased amino acid level MP:0014527 increase in the amount of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group http://purl.obolibrary.org/obo/CHEBI_33709 reduction in the amount of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group 2024-08-07T20:53:25Z reduced amino acid level MPheno.ontology MP:0014528 decreased amino acid level MP:0014528 reduction in the amount of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group http://purl.obolibrary.org/obo/CHEBI_33709 reduction in the amount of beta-alanine (3-aminopropanoic acid), an achiral amino acid and an isomer of alanine; it occurs free (e.g. in brain) and in combination (e.g. in pantothenate) but it is not a constituent of proteins 2024-08-07T20:58:20Z reduced beta-alanine level MPheno.ontology MP:0014529 decreased beta-alanine level MP:0014529 reduction in the amount of beta-alanine (3-aminopropanoic acid), an achiral amino acid and an isomer of alanine; it occurs free (e.g. in brain) and in combination (e.g. in pantothenate) but it is not a constituent of proteins GO:0019482 increase in the amount in the blood of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group 2024-08-08T14:40:52Z elevated circulating amino acid level MPheno.ontology MP:0014530 increased circulating amino acid level MP:0014530 increase in the amount in the blood of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group CHEBI:33709 reduction in the amount in the blood of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group 2024-08-08T14:41:10Z reduced circulating amino acid level MPheno.ontology MP:0014531 decreased circulating amino acid level MP:0014531 reduction in the amount in the blood of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group CHEBI:33709 reduction in the amount per unit of blood of glutathione, a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine 2024-08-08T14:50:42Z reduced circulating glutathione level MPheno.ontology MP:0014532 decreased circulating glutathione level MP:0014532 reduction in the amount per unit of blood of glutathione, a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine CHEBI:16856 reduction in the amount per unit of blood of homocitrulline, an amino acid and a metabolite of ornithine in mammalian metabolism 2024-08-08T14:54:47Z reduced circulating homocitrulline level MPheno.ontology MP:0014533 decreased circulating homocitrulline level MP:0014533 reduction in the amount per unit of blood of homocitrulline, an amino acid and a metabolite of ornithine in mammalian metabolism https://en.wikipedia.org/wiki/Homocitrulline reduction in the amount per unit of blood of hydroxyproline, a non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix 2024-08-08T15:03:54Z reduced circulating hydroxyproline level MPheno.ontology MP:0014534 decreased circulating hydroxyproline level MP:0014534 reduction in the amount per unit of blood of hydroxyproline, a non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix CHEBI:24741 increase in the concentration of any inorganic substance that has importance in body functions 2024-08-08T16:46:34Z elevated mineral level MPheno.ontology MP:0014535 increased mineral level MP:0014535 increase in the concentration of any inorganic substance that has importance in body functions ISBN:0-683-40008-8 reduction in the concentration of any inorganic substance that has importance in body functions 2024-08-08T16:46:45Z reduced mineral level MPheno.ontology MP:0014536 decreased mineral level MP:0014536 reduction in the concentration of any inorganic substance that has importance in body functions ISBN:0-683-40008-8 increase in the concentration of calcium in the body or bodily fluids 2024-08-08T18:54:05Z elevated calcium level MPheno.ontology MP:0014537 increased calcium level MP:0014537 increase in the concentration of calcium in the body or bodily fluids https://orcid.org/0000-0003-4606-0597 reduction in the concentration of calcium in the body or bodily fluids 2024-08-08T18:54:18Z reduced calcium level MPheno.ontology MP:0014538 decreased calcium level MP:0014538 reduction in the concentration of calcium in the body or bodily fluids https://orcid.org/0000-0003-4606-0597 increase in the concentration in the body of the metallic element atom that has formula Cu, and normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins 2024-08-08T19:02:07Z elevated copper level MPheno.ontology MP:0014539 increased copper level MP:0014539 increase in the concentration in the body of the metallic element atom that has formula Cu, and normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins CHEBI:28694 reduction in the concentration in the body of the metallic element atom that has formula Cu, and normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins 2024-08-08T19:02:20Z reduced copper level MPheno.ontology MP:0014540 decreased copper level MP:0014540 reduction in the concentration in the body of the metallic element atom that has formula Cu, and normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins CHEBI:28694 increase in the concentrations of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins and is an essential component of enzymes such as catalase, peroxidase, and various cytochromes 2024-08-08T19:22:13Z elevated iron level MPheno.ontology MP:0014541 increased iron level MP:0014541 increase in the concentrations of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins and is an essential component of enzymes such as catalase, peroxidase, and various cytochromes ISBN:0-683-40008-8 reduction in the concentrations of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins and is an essential component of enzymes such as catalase, peroxidase, and various cytochromes 2024-08-08T19:22:28Z reduced iron level MPheno.ontology MP:0014542 decreased iron level MP:0014542 reduction in the concentrations of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins and is an essential component of enzymes such as catalase, peroxidase, and various cytochromes ISBN:0-683-40008-8 increase in the concentration of manganese in the body 2024-08-08T19:35:55Z elevated manganese level MPheno.ontology MP:0014543 increased manganese level MP:0014543 increase in the concentration of manganese in the body CHEBI:25154 reduction in the concentration of manganese in the body 2024-08-08T19:36:08Z reduced manganese level MPheno.ontology MP:0014544 decreased manganese level MP:0014544 reduction in the concentration of manganese in the body CHEBI:25154 increase in the concentration of phosphate (salt or ester of phosphoric acid) in the body 2024-08-08T19:45:01Z elevated phosphate level MPheno.ontology MP:0014545 increased phosphate level MP:0014545 increase in the concentration of phosphate (salt or ester of phosphoric acid) in the body https://orcid.org/0000-0003-4606-0597 reduction in the concentration of phosphate (salt or ester of phosphoric acid) in the body 2024-08-08T19:45:17Z reduced phosphate level MPheno.ontology MP:0014546 decreased phosphate level MP:0014546 reduction in the concentration of phosphate (salt or ester of phosphoric acid) in the body https://orcid.org/0000-0003-4606-0597 increase in the concentration in the blood of any naturally occurring, homogeneous inorganic solid substance having a definite chemical composition and highly ordered atomic arrangement that is required for growth and survival 2024-08-08T20:25:14Z MPheno.ontology MP:0014547 increased circulating mineral level MP:0014547 increase in the concentration in the blood of any naturally occurring, homogeneous inorganic solid substance having a definite chemical composition and highly ordered atomic arrangement that is required for growth and survival https://orcid.org/0000-0003-4606-0597 reduction in the concentration in the blood of any naturally occurring, homogeneous inorganic solid substance having a definite chemical composition and highly ordered atomic arrangement that is required for growth and survival 2024-08-08T20:25:32Z reduced circulating mineral level MPheno.ontology MP:0014548 decreased circulating mineral level MP:0014548 reduction in the concentration in the blood of any naturally occurring, homogeneous inorganic solid substance having a definite chemical composition and highly ordered atomic arrangement that is required for growth and survival https://orcid.org/0000-0003-4606-0597 increase in the concentration of zinc in the body 2024-08-08T20:34:28Z elevated zinc level MPheno.ontology MP:0014549 increased zinc level MP:0014549 increase in the concentration of zinc in the body https://orcid.org/0000-0003-4606-0597 reduction in the concentration of zinc in the body 2024-08-08T20:34:38Z reduced zinc level MPheno.ontology MP:0014550 decreased zinc level MP:0014550 reduction in the concentration of zinc in the body https://orcid.org/0000-0003-4606-0597 reduced ability or inability of immature neurons to move from germinal zones to specific positions where they will reside as they mature 2024-09-18T13:43:59Z MPheno.ontology MP:0014551 impaired neuronal migration MP:0014551 reduced ability or inability of immature neurons to move from germinal zones to specific positions where they will reside as they mature http://purl.obolibrary.org/obo/GO_0001764 increased ability of immature neurons to move from germinal zones to specific positions where they will reside as they mature 2024-09-18T13:44:14Z MPheno.ontology MP:0014552 enhanced neuronal migration MP:0014552 increased ability of immature neurons to move from germinal zones to specific positions where they will reside as they mature http://purl.obolibrary.org/obo/GO_0001764 reduced rate of the movement of immature neurons from germinal zones to specific positions where they will reside as they mature 2024-09-18T14:03:04Z reduced neuronal migration MPheno.ontology MP:0014553 decreased neuronal migration MP:0014553 reduced rate of the movement of immature neurons from germinal zones to specific positions where they will reside as they mature http://purl.obolibrary.org/obo/GO_0001764 late onset of the initiation and/or completion of the movement of immature neurons from germinal zones to specific positions where they will reside as they mature 2024-09-18T14:03:18Z MPheno.ontology MP:0014554 delayed neuronal migration MP:0014554 late onset of the initiation and/or completion of the movement of immature neurons from germinal zones to specific positions where they will reside as they mature http://purl.obolibrary.org/obo/GO_0001764 immature neurons move from germinal zones to incorrect positions rather than the normal position 2024-09-18T14:13:40Z MPheno.ontology MP:0014555 impaired neuronal migration orientation MP:0014555 immature neurons move from germinal zones to incorrect positions rather than the normal position https://orcid.org/0000-0003-4606-0597 any anomaly in the depth or width of the cortical ventricular zone 2024-09-18T14:38:57Z abnormal VZ thickness MPheno.ontology MP:0014556 abnormal cortical ventricular zone thickness MP:0014556 any anomaly in the depth or width of the cortical ventricular zone https://orcid.org/0000-0003-4606-0597 increase in the depth or width of the cortical ventricular zone 2024-09-18T14:39:19Z increased VZ thickness thick cortical ventricular zone MPheno.ontology MP:0014557 increased cortical ventricular zone thickness MP:0014557 increase in the depth or width of the cortical ventricular zone https://orcid.org/0000-0003-4606-0597 decrease in the depth or width of the cortical ventricular zone 2024-09-18T14:39:28Z reduced VZ thickness thin cortical ventricular zone MPheno.ontology MP:0014558 decreased cortical ventricular zone thickness MP:0014558 decrease in the depth or width of the cortical ventricular zone https://orcid.org/0000-0003-4606-0597 any anomaly in the density of cells in the cortical ventricular zone 2024-09-18T14:43:44Z abnormal VZ cell density MPheno.ontology MP:0014559 abnormal cortical ventricular zone cell density MP:0014559 any anomaly in the density of cells in the cortical ventricular zone https://orcid.org/0000-0003-4606-0597 increase in the density of cells in the cortical ventricular zone 2024-09-18T14:44:14Z increased VZ cell density MPheno.ontology MP:0014560 increased cortical ventricular zone cell density MP:0014560 increase in the density of cells in the cortical ventricular zone https://orcid.org/0000-0003-4606-0597 reduction in the density of cells in the cortical ventricular zone 2024-09-18T14:44:23Z reduced VZ cell density reduced cortical venrticular zone cell density MPheno.ontology MP:0014561 decreased cortical ventricular zone cell density MP:0014561 reduction in the density of cells in the cortical ventricular zone https://orcid.org/0000-0003-4606-0597 larger than average tympanic ring 2024-09-18T15:27:30Z MPheno.ontology MP:0014562 increased tympanic ring size MP:0014562 larger than average tympanic ring https://orcid.org/0000-0003-4606-0597 presence of an additional tympanic ring in one or both ears 2024-09-18T15:29:41Z MPheno.ontology MP:0014563 duplicated tympanic ring MP:0014563 presence of an additional tympanic ring in one or both ears PMID:16221728 any anomaly in the blood concentration of this polypeptide hormone, originally detected in the proximal small intestine but also expressed in the central nervous system, that regulates gastric acid secretion, water homeostasis throughout the body, and has a role in synaptic function 2024-10-16T14:59:37Z abnormal blood secretin amount abnormal circulating SCT concentration MPheno.ontology MP:0014564 abnormal circulating secretin level MP:0014564 any anomaly in the blood concentration of this polypeptide hormone, originally detected in the proximal small intestine but also expressed in the central nervous system, that regulates gastric acid secretion, water homeostasis throughout the body, and has a role in synaptic function PMID:18534766 https://orcid.org/0000-0001-6624-9261 greater than the normal blood concentration of this polypeptide hormone, originally detected in the proximal small intestine but also expressed in the central nervous system, that regulates gastric acid secretion, water homeostasis throughout the body, and has a role in synaptic function 2024-10-16T15:38:33Z elevated secretin blood concentration increased blood SCT amount MPheno.ontology MP:0014565 increased circulating secretin level MP:0014565 greater than the normal blood concentration of this polypeptide hormone, originally detected in the proximal small intestine but also expressed in the central nervous system, that regulates gastric acid secretion, water homeostasis throughout the body, and has a role in synaptic function PMID:18534766 less than the normal blood concentration of this polypeptide hormone, originally detected in the proximal small intestine but also expressed in the central nervous system, that regulates gastric acid secretion, water homeostasis throughout the body, and has a role in synaptic function 2024-10-16T15:38:55Z reduced blood SCT amount reduced secretin blood concentration MPheno.ontology MP:0014566 decreased circulating secretin level MP:0014566 less than the normal blood concentration of this polypeptide hormone, originally detected in the proximal small intestine but also expressed in the central nervous system, that regulates gastric acid secretion, water homeostasis throughout the body, and has a role in synaptic function PMID:18534766 greater than the expected amount in the blood of the 36-amino acid pancreatic hormone that is secreted mainly by endocrine cells found at the periphery of the islets of Langerhans in response to ingestions, and regulates gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite 2024-10-16T18:00:43Z elevated circulating PPY amount MPheno.ontology MP:0014567 increased circulating pancreatic peptide level MP:0014567 greater than the expected amount in the blood of the 36-amino acid pancreatic hormone that is secreted mainly by endocrine cells found at the periphery of the islets of Langerhans in response to ingestions, and regulates gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite ISBN:0-683-40008-8 less than the expected amount in the blood of the 36-amino acid pancreatic hormone that is secreted mainly by endocrine cells found at the periphery of the islets of Langerhans in response to ingestions, and regulates gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite 2024-10-16T18:00:53Z reduced blood PPY amount MPheno.ontology MP:0014568 decreased circulating pancreatic peptide level MP:0014568 less than the expected amount in the blood of the 36-amino acid pancreatic hormone that is secreted mainly by endocrine cells found at the periphery of the islets of Langerhans in response to ingestions, and regulates gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite ISBN:0-683-40008-8 any anomaly in the blood concentration of this peptide hormone, produced in the gut and pancreas, that plays a role in the regulation of glucose and energy homeostasis 2024-10-16T18:08:53Z abnormal blood peptide YY (tyrosine tyrosine) amount abnormal circulating PYY concentration MPheno.ontology MP:0014569 abnormal circulating peptide YY level MP:0014569 any anomaly in the blood concentration of this peptide hormone, produced in the gut and pancreas, that plays a role in the regulation of glucose and energy homeostasis PMID:26125465 https://orcid.org/0000-0001-6624-9261 greater than the expected amount in the blood of this peptide hormone, produced in the gut and pancreas, that plays a role in the regulation of glucose and energy homeostasis 2024-10-16T18:36:12Z elevated blood PYY amount increased circulating PYY concentration MPheno.ontology MP:0014570 increased circulating peptide YY level MP:0014570 greater than the expected amount in the blood of this peptide hormone, produced in the gut and pancreas, that plays a role in the regulation of glucose and energy homeostasis PMID:26125465 less than the expected amount in the blood of this peptide hormone, produced in the gut and pancreas, that plays a role in the regulation of glucose and energy homeostasis 2024-10-16T18:36:24Z PMID:26125465 decreased circulating PYY concentration reduced blood PYY amount MPheno.ontology MP:0014571 decreased circulating peptide YY level MP:0014571 any anomaly in the blood concentration of this cysteine-rich peptide hormone, derived from adipose tissue, that is implicated in the modulation of insulin activity, energy, glucose, and lipid homeostasis 2024-10-16T19:00:47Z abnormal blood resistin amount abnormal circulating RETN concentration MPheno.ontology MP:0014572 abnormal circulating resistin level MP:0014572 any anomaly in the blood concentration of this cysteine-rich peptide hormone, derived from adipose tissue, that is implicated in the modulation of insulin activity, energy, glucose, and lipid homeostasis https://orcid.org/0000-0001-6624-9261 greater than the expected blood concentration of this cysteine-rich peptide hormone, derived from adipose tissue, that is implicated in the modulation of insulin activity, energy, glucose, and lipid homeostasis 2024-10-16T19:07:21Z elevated blood resistin amount increased circulating RETN concentration MPheno.ontology MP:0014573 increased circulating resistin level MP:0014573 greater than the expected blood concentration of this cysteine-rich peptide hormone, derived from adipose tissue, that is implicated in the modulation of insulin activity, energy, glucose, and lipid homeostasis https://orcid.org/0000-0001-6624-9261 less than the expected blood concentration of this cysteine-rich peptide hormone, derived from adipose tissue, that is implicated in the modulation of insulin activity, energy, glucose, and lipid homeostasis 2024-10-16T19:07:29Z decreased circulating RETN concentration reduced blood resistin amount MPheno.ontology MP:0014574 decreased circulating resistin level MP:0014574 less than the expected blood concentration of this cysteine-rich peptide hormone, derived from adipose tissue, that is implicated in the modulation of insulin activity, energy, glucose, and lipid homeostasis https://orcid.org/0000-0001-6624-9261 greater than the expected time for a bolus of material to pass through the intestine 2024-10-17T18:12:34Z MPheno.ontology MP:0014575 increased intestinal transit time MP:0014575 greater than the expected time for a bolus of material to pass through the intestine https://orcid.org/0000-0003-4606-0597 less than the expected time for a bolus of material to pass through the intestine 2024-10-17T18:12:50Z reduced intestinal transit time MPheno.ontology MP:0014576 decreased intestinal transit time MP:0014576 less than the expected time for a bolus of material to pass through the intestine https://orcid.org/0000-0003-4606-0597 greater than the expected time for a bolus of material to pass through the large intestine 2024-10-17T18:14:00Z MPheno.ontology MP:0014577 increased large intestinal transit time MP:0014577 greater than the expected time for a bolus of material to pass through the large intestine https://orcid.org/0000-0003-4606-0597 greater than the expected time for a bolus of material to pass through the small intestine 2024-10-17T18:14:13Z MPheno.ontology MP:0014578 increased small intestinal transit time MP:0014578 greater than the expected time for a bolus of material to pass through the small intestine https://orcid.org/0000-0003-4606-0597 less than the expected time for a bolus of material to pass through the large intestine 2024-10-17T18:14:35Z reduced large intestinal transit time MPheno.ontology MP:0014579 decreased large intestinal transit time MP:0014579 less than the expected time for a bolus of material to pass through the large intestine https://orcid.org/0000-0003-4606-0597 less than the expected time for a bolus of material to pass through the small intestine 2024-10-17T18:14:47Z reduced small intestinal transit time MPheno.ontology MP:0014580 decreased small intestinal transit time MP:0014580 less than the expected time for a bolus of material to pass through the small intestine https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration in the blood of this incretin secreted from enteroendocrine K cells in response to glucose and fat ingestion that enhances glucose-dependent insulin secretion 2024-11-05T16:16:28Z abnormal circulating GIP amount abnormal circulating GIP concentration abnormal circulating glucose-dependent insulinotropic polypeptide level MPheno.ontology MP:0014581 abnormal circulating gastric inhibitory polypeptide level MP:0014581 any anomaly in the concentration in the blood of this incretin secreted from enteroendocrine K cells in response to glucose and fat ingestion that enhances glucose-dependent insulin secretion PMID:31977316 https://orcid.org/0000-0001-6624-9261 increase in the concentration in the blood of this incretin secreted from enteroendocrine K cells in response to glucose and fat ingestion that enhances glucose-dependent insulin secretion 2024-11-05T16:17:20Z elevated circulating GIP concentration increased circulating GIP amount increased circulating glucose-dependent insulinotropic polypeptide level MPheno.ontology MP:0014582 increased circulating gastric inhibitory polypeptide level MP:0014582 increase in the concentration in the blood of this incretin secreted from enteroendocrine K cells in response to glucose and fat ingestion that enhances glucose-dependent insulin secretion PMID:31977316 reduction in the concentration in the blood of this incretin secreted from enteroendocrine K cells in response to glucose and fat ingestion that enhances glucose-dependent insulin secretion 2024-11-05T16:17:30Z decreased circulating GIP amount decreased circulating glucose-dependent insulinotropic polypeptide level reduced circulating GIP concentration MPheno.ontology MP:0014583 decreased circulating gastric inhibitory polypeptide level MP:0014583 reduction in the concentration in the blood of this incretin secreted from enteroendocrine K cells in response to glucose and fat ingestion that enhances glucose-dependent insulin secretion PMID:31977316 anomaly in the average size of the transient cup-like structure of the epiblast that consists of a single layer of embryonic cells 2024-11-05T19:07:23Z MPheno.ontology MP:0014584 abnormal egg cylinder size MP:0014584 anomaly in the average size of the transient cup-like structure of the epiblast that consists of a single layer of embryonic cells https://orcid.org/0000-0003-4606-0597 increase in the average size of the transient cup-like structure of the epiblast that consists of a single layer of embryonic cells 2024-11-05T19:18:49Z MPheno.ontology MP:0014585 increased egg cylinder size MP:0014585 increase in the average size of the transient cup-like structure of the epiblast that consists of a single layer of embryonic cells https://orcid.org/0000-0003-4606-0597 reduction in the average size of the transient cup-like structure of the epiblast that consists of a single layer of embryonic cells 2024-11-05T19:18:58Z reduced egg cylinder size small egg cylinder rudimentary egg cylinder MPheno.ontology MP:0014586 decreased egg cylinder size MP:0014586 reduction in the average size of the transient cup-like structure of the epiblast that consists of a single layer of embryonic cells https://orcid.org/0000-0003-4606-0597 small egg cylinder https://orcid.org/0000-0002-6490-7723 rudimentary egg cylinder https://orcid.org/0000-0002-6490-7723 reduced ability to coordinate movement of small muscle groups 2024-11-07T21:09:17Z MPheno.ontology MP:0014587 impaired fine motor coordination MP:0014587 reduced ability to coordinate movement of small muscle groups NBO:0000348 reduced ability to coordinate movement of large muscle groups or the whole body 2024-11-07T21:09:35Z MPheno.ontology MP:0014588 impaired gross motor coordination MP:0014588 reduced ability to coordinate movement of large muscle groups or the whole body http://purl.obolibrary.org/obo/NBO_0000347 any structural anomaly of the neuroendocrine cell that secretes gonadotropin-releasing hormone (GnRH) 2024-11-12T19:47:27Z abnormal GnRH neuron morphology abnormal GnRH-secreting neuron morphology MPheno.ontology MP:0014589 abnormal gonadotropin-releasing hormone neuron morphology MP:0014589 any structural anomaly of the neuroendocrine cell that secretes gonadotropin-releasing hormone (GnRH) CL:0011111 any anomaly in the number of the neuroendocrine cells that secrete gonadotropin-releasing hormone 2024-11-12T19:54:22Z abnormal GnRH neuron count abnormal GnRH-secreting neuron count MPheno.ontology MP:0014590 abnormal gonadotropin-releasing hormone neuron number MP:0014590 increase in the number of the neuroendocrine cells that secrete gonadotropin-releasing hormone 2024-11-12T19:57:00Z increased GnRH neuron count increased GnRH-secreting neuron count MPheno.ontology MP:0014591 increased gonadotropin-releasing hormone neuron number MP:0014591 reduction in the number of the neuroendocrine cells that secrete gonadotropin-releasing hormone 2024-11-12T19:57:10Z decreased GnRH neuron count decreased GnRH-secreting neuron count MPheno.ontology MP:0014592 decreased gonadotropin-releasing hormone neuron number MP:0014592 absence of the neuroendocrine cells that secrete gonadotropin-releasing hormone 2024-11-12T19:57:27Z absent GnRH neuron absent GnRH-secreting neurons MPheno.ontology MP:0014593 absent gonadotropin-releasing hormone neuron MP:0014593 any structural anomaly in the small amount of cytoplasm surrounded by a cell membrane that may be retained in the spermatozoa after spermiogenesis 2024-12-18T20:34:15Z abnormal sperm residual cytoplasm morphology MPheno.ontology MP:0014594 Initially, the droplet is located at the neck just behind the head of an elongated spermatid. During epididymal transit, the cytoplasmic droplet migrates caudally to the annulus at the end of the midpiece; the exact position and time varies by species. The cytoplasmic droplet consists of lipids, lipoproteins, RNAs, a variety of hydrolytic enzymes, receptors, ion channels, and Golgi-derived vesicles. The droplet may be involved in regulatory volume loss (RVD) at ejaculation, and in most species, though not in humans, the cytoplasmic droplet is lost at ejaculation. Note that the cytoplasmic droplet is distinct from 'excessive residual cytoplasm' that sometimes remains in epididymal spermatozoa, particularly when spermiogenesis has been disrupted. abnormal sperm cytoplasmic droplet morphology MP:0014594 any structural anomaly in the small amount of cytoplasm surrounded by a cell membrane that may be retained in the spermatozoa after spermiogenesis http://purl.obolibrary.org/obo/GO_0097598 Initially, the droplet is located at the neck just behind the head of an elongated spermatid. During epididymal transit, the cytoplasmic droplet migrates caudally to the annulus at the end of the midpiece; the exact position and time varies by species. The cytoplasmic droplet consists of lipids, lipoproteins, RNAs, a variety of hydrolytic enzymes, receptors, ion channels, and Golgi-derived vesicles. The droplet may be involved in regulatory volume loss (RVD) at ejaculation, and in most species, though not in humans, the cytoplasmic droplet is lost at ejaculation. Note that the cytoplasmic droplet is distinct from 'excessive residual cytoplasm' that sometimes remains in epididymal spermatozoa, particularly when spermiogenesis has been disrupted. GO:0097598 any anomaly in the number of sperm cytoplasmic droplets 2024-12-18T20:42:11Z abnormal sperm residual cytoplasm number MPheno.ontology MP:0014595 abnormal sperm cytoplasmic droplet number MP:0014595 any anomaly in the number of sperm cytoplasmic droplets https://orcid.org/0000-0003-4606-0597 increase in the number of sperm cytoplasmic droplets 2024-12-18T20:42:28Z increased sperm residual cytoplasm count MPheno.ontology MP:0014596 increased sperm cytoplasmic droplet number MP:0014596 increase in the number of sperm cytoplasmic droplets https://orcid.org/0000-0003-4606-0597 reduction in the number of sperm cytoplasmic droplets 2024-12-18T20:42:38Z reduced sperm residual cytoplasm count MPheno.ontology MP:0014597 decreased sperm cytoplasmic droplet number MP:0014597 reduction in the number of sperm cytoplasmic droplets https://orcid.org/0000-0003-4606-0597 any anomaly in the location of the cytoplasmic within the sperm; location of the droplet changes during maturation migrating from the neck behind the head of an elongated spermatid to the annulus at the end of the midpiece 2024-12-18T20:49:16Z abnormal sperm residual cytoplasm placement MPheno.ontology MP:0014598 abnormal sperm cytoplasmic droplet placement MP:0014598 any anomaly in the location of the cytoplasmic within the sperm; location of the droplet changes during maturation migrating from the neck behind the head of an elongated spermatid to the annulus at the end of the midpiece http://purl.obolibrary.org/obo/GO_0097598 a diminished likelihood or extent of damage to cells, tissues, or entire organsim following exposure to toxic levels of oxygen 2025-01-14T15:43:41Z reduced susceptibility to hyperoxia-induced injury MPheno.ontology MP:0014599 decreased susceptibility to hyperoxia-induced injury MP:0014599 a diminished likelihood or extent of damage to cells, tissues, or entire organsim following exposure to toxic levels of oxygen PMID:37553579 an increased likelihood or extent of damage to cells, tissues, or entire organsim following exposure to toxic levels of oxygen 2025-01-14T15:43:56Z MPheno.ontology MP:0014600 increased susceptibility to hyperoxia-induced injury MP:0014600 an increased likelihood or extent of damage to cells, tissues, or entire organsim following exposure to toxic levels of oxygen PMID:37553579 decreased number of attempts of sexual behavioral contact between an initiating organism and a receptive partner 2025-01-14T16:48:58Z reduced mating frequency MPheno.ontology MP:0014601 decreased mating frequency MP:0014601 decreased number of attempts of sexual behavioral contact between an initiating organism and a receptive partner MESH:F01.145.113.252.748.200 females do not as frequently engage in sexual behavior 2025-01-14T16:53:14Z reduced female mating frequency MPheno.ontology MP:0014602 decreased female mating frequency MP:0014602 females do not as frequently engage in sexual behavior PMID:34135859 retrogressive impairment of function or destruction of the membrane to membrane contact of a motor axon and a muscle myofiber that is responsible for the transmission of nerve impulses 2025-01-14T18:05:53Z NMJ degeneration neuromuscular junction degeneration MPheno.ontology MP:0014603 neuromuscular synapse degeneration MP:0014603 retrogressive impairment of function or destruction of the membrane to membrane contact of a motor axon and a muscle myofiber that is responsible for the transmission of nerve impulses PMID:32934225 presence of one or more fluid-filled membranous sacs containing blood within the ovary 2025-01-14T18:28:55Z hemorrhagic ovarian cysts MPheno.ontology MP:0014604 hemorrhagic ovary cyst MP:0014604 presence of one or more fluid-filled membranous sacs containing blood within the ovary HP:0012886 PMID:19684329 liver has a darker color than normal 2025-01-14T18:47:55Z MPheno.ontology MP:0014605 dark liver MP:0014605 liver has a darker color than normal PMID:632744 spleen has a darker color than normal 2025-01-14T18:53:28Z MPheno.ontology MP:0014606 dark spleen MP:0014606 spleen has a darker color than normal PMID:9028339 decrease in the production of free radical groups in a cell, tissue or whole body 2025-01-14T21:23:01Z reduced ROS production MPheno.ontology reduced oxidative stress MP:0014607 decreased reactive oxygen species production MP:0014607 decrease in the production of free radical groups in a cell, tissue or whole body GO:1903409 any anomaly in the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore 2025-01-14T22:02:43Z MPheno.ontology MP:0014608 abnormal lipid transport MP:0014608 any anomaly in the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore http://purl.obolibrary.org/obo/GO_0006869 any anomaly in the size of the bone marrow cavity 2025-01-15T19:47:07Z abnormal bone medullary cavity size MPheno.ontology MP:0014609 abnormal bone marrow cavity size MP:0014609 any anomaly in the size of the bone marrow cavity https://orcid.org/0000-0003-4606-0597 larger than the normal physical proportions of one or more bone marrow cavities 2025-01-15T19:48:00Z enlarged bone marrow cavity increased bone medullary cavity size MPheno.ontology MP:0014610 increased bone marrow cavity size MP:0014610 larger than the normal physical proportions of one or more bone marrow cavities https://orcid.org/0000-0003-4606-0597 smaller than the normal physical proportions of one or more bone marrow cavities 2025-01-15T19:48:09Z reduced bone marrow cavity size reduced bone medullary cavity size small bone marrow cavity MPheno.ontology MP:0014611 decreased bone marrow cavity size MP:0014611 smaller than the normal physical proportions of one or more bone marrow cavities https://orcid.org/0000-0003-4606-0597 absence of the medullary cavities of the bones 2025-01-15T20:05:48Z absent bone medullary cavity MPheno.ontology MP:0014612 absent bone marrow cavity MP:0014612 absence of the medullary cavities of the bones https://orcid.org/0000-0003-4606-0597 any anomaly in the formation of the medullary cavities of the bones 2025-01-15T20:31:37Z MPheno.ontology MP:0014613 abnormal bone marrow cavity formation MP:0014613 any anomaly in the formation of the medullary cavities of the bones https://orcid.org/0000-0003-4606-0597 later than expected time for the formation of the bone marrow cavities 2025-01-15T20:32:07Z MPheno.ontology MP:0014614 delayed bone marrow cavity formation MP:0014614 later than expected time for the formation of the bone marrow cavities PMID:17194222 earlier than expected time for the formation of the bone marrow cavities 2025-01-15T20:32:17Z MPheno.ontology MP:0014615 premature bone marrow cavity formation MP:0014615 earlier than expected time for the formation of the bone marrow cavities https://orcid.org/0000-0003-4606-0597 any anomaly in the numbers of the large unspecialized male germ cells that give rise to spermatocytes 2025-01-27T19:11:49Z MPheno.ontology MP:0014616 abnormal spermatogonia number MP:0014616 any anomaly in the numbers of the large unspecialized male germ cells that give rise to spermatocytes https://orcid.org/0000-0003-4606-0597 decrease in the numbers of the large unspecialized male germ cells that give rise to spermatocytes 2025-01-27T19:12:15Z reduced spermatogonium count MPheno.ontology spermatogonia hypoplasia MP:0014617 decreased spermatogonia number MP:0014617 decrease in the numbers of the large unspecialized male germ cells that give rise to spermatocytes PMID:37781892 https://orcid.org/0000-0003-4606-0597 increase in the numbers of the large unspecialized male germ cells that give rise to spermatocytes 2025-01-27T19:12:23Z increased spermatogonium count MPheno.ontology MP:0014618 increased spermatogonia number MP:0014618 increase in the numbers of the large unspecialized male germ cells that give rise to spermatocytes https://orcid.org/0000-0003-4606-0597 absence of the large unspecialized male germ cells that give rise to spermatocytes 2025-01-27T20:25:29Z absent spermatogonium MPheno.ontology MP:0014619 absent spermatogonia MP:0014619 absence of the large unspecialized male germ cells that give rise to spermatocytes https://orcid.org/0000-0003-4606-0597 any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG) in the time between epileptic seizures 2025-02-14T18:55:06Z abnormal interictal EEG pattern abnormal interictal electroencephalogram MPheno.ontology MP:0014620 abnormal interictal brain wave pattern MP:0014620 any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG) in the time between epileptic seizures HP:0025373 PMID:18215623 any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential in the 8-12 or 13 Hz range between parts of the brain, often visualized on an electroencephalogram (EEG) 2025-02-14T19:55:23Z abnormal alpha oscillations abnormal alpha waveform MPheno.ontology MP:0014621 the precise range covered by each band varies slightly depending on species abnormal brain alpha wave pattern MP:0014621 any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential in the 8-12 or 13 Hz range between parts of the brain, often visualized on an electroencephalogram (EEG) PMID:22119903 https://emedicine.medscape.com/article/1139332-overview?form=fpf any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential in the 12 or 13-30 Hz range between parts of the brain, often visualized on an electroencephalogram (EEG) 2025-02-14T19:55:35Z abnormal beta oscillations abnormal beta waveform MPheno.ontology MP:0014622 the precise range covered by each band varies slightly depending on species abnormal brain beta wave pattern MP:0014622 any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential in the 12 or 13-30 Hz range between parts of the brain, often visualized on an electroencephalogram (EEG) PMID:22119903 https://emedicine.medscape.com/article/1139332-overview?form=fpf any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential in the 4-7 or 8 Hz range between parts of the brain, often visualized on an electroencephalogram (EEG) 2025-02-14T19:55:51Z abnormal theta oscillations abnormal theta waveform MPheno.ontology MP:0014623 the precise range covered by each band varies slightly depending on species abnormal brain theta wave pattern MP:0014623 any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential in the 4-7 or 8 Hz range between parts of the brain, often visualized on an electroencephalogram (EEG) PMID:22119903 https://emedicine.medscape.com/article/1139332-overview?form=fpf any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential in the 0.5-4 Hz range between parts of the brain, often visualized on an electroencephalogram (EEG) 2025-02-14T19:56:05Z abnormal delta waveform abnormal delte oscillations MPheno.ontology MP:0014624 the precise range covered by each band varies slightly depending on species abnormal brain delta wave pattern MP:0014624 any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential in the 0.5-4 Hz range between parts of the brain, often visualized on an electroencephalogram (EEG) PMID:22119903 https://emedicine.medscape.com/article/1139332-overview?form=fpf any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG) in the time during epileptic seizure 2025-02-14T20:03:54Z abnormal ictal EEG pattern abnormal ictal electroencephalogram MPheno.ontology MP:0014625 abnormal ictal brain wave pattern MP:0014625 any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG) in the time during epileptic seizure PMID:23922229 any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG) in the time just after epileptic seizures 2025-02-14T20:04:07Z abnormal postictal EEG pattern abnormal postictal electroencephalogram MPheno.ontology MP:0014626 abnormal postictal brain wave pattern MP:0014626 any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG) in the time just after epileptic seizures PMID:23922229 any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG) in the time just before epileptic seizures 2025-02-14T20:04:19Z abnormal preictal EEG pattern abnormal preictal electroencephalogram MPheno.ontology MP:0014627 abnormal preictal brain wave pattern MP:0014627 any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG) in the time just before epileptic seizures PMID:23922229 the presence of interictal multifocal spike activity over a high voltage chaotic slow wave background 2025-02-14T20:10:38Z MPheno.ontology MP:0014628 hypsarrhythmia MP:0014628 the presence of interictal multifocal spike activity over a high voltage chaotic slow wave background HP:0002521 PMID:36883084 decrease in the number of normal cells in normal arrangement in the hypothalamus, typically resulting in increased size 2025-02-14T20:41:01Z hypoplasia of the hypothalamus hypoplastic hypothalamus MPheno.ontology MP:0014629 hypothalamus hypoplasia MP:0014629 decrease in the number of normal cells in normal arrangement in the hypothalamus, typically resulting in increased size PMID:8543155 any structural anomaly of spermatids in the early stage of maturation that have a round morphology and are transcriptionally active 2025-02-14T21:07:04Z abnormal early spermatid morphology MPheno.ontology MP:0014630 abnormal round spermatid morphology MP:0014630 any structural anomaly of spermatids in the early stage of maturation that have a round morphology and are transcriptionally active CL:4030036 any structural anomaly of spermatids with an elongated morphology that are transcriptionally inert when the acrosome is fully developed 2025-02-14T21:07:21Z abnormal late spermatid morphology MPheno.ontology MP:0014631 abnormal elongated spermatid morphology MP:0014631 any structural anomaly of spermatids with an elongated morphology that are transcriptionally inert when the acrosome is fully developed CL:4030037 greater number of spermatids 2025-02-14T21:14:47Z elevated spermatid numbers MPheno.ontology MP:0014632 increased spermatid number MP:0014632 greater number of spermatids https://orcid.org/0000-0003-4606-0597 reduced numbers of spermatids 2025-02-14T21:15:01Z reduced spermatid numbers MPheno.ontology MP:0014633 decreased spermatid number MP:0014633 reduced numbers of spermatids https://orcid.org/0000-0003-4606-0597 reduced numbers of round spermatids 2025-02-14T21:35:39Z reduced early spermatid numbers MPheno.ontology MP:0014634 decreased round spermatid number MP:0014634 reduced numbers of round spermatids https://orcid.org/0000-0003-4606-0597 elevated numbers of round spermatids 2025-02-14T21:35:53Z elevated early spermatid numbers MPheno.ontology MP:0014635 increased round spermatid number MP:0014635 elevated numbers of round spermatids https://orcid.org/0000-0003-4606-0597 reduced numbers of elongated spermatids 2025-02-14T21:36:11Z reduced late spermatid numbers MPheno.ontology MP:0014636 decreased elongated spermatid number MP:0014636 reduced numbers of elongated spermatids https://orcid.org/0000-0003-4606-0597 elevated numbers of elongated spermatids 2025-02-14T21:36:20Z elevated late spermatid numbers MPheno.ontology MP:0014637 increased elongated spermatid number MP:0014637 elevated numbers of elongated spermatids https://orcid.org/0000-0003-4606-0597 increase in the amount of time spent asleep in a defined period of time 2025-02-17T21:19:04Z MPheno.ontology MP:0014638 increased sleep duration MP:0014638 increase in the amount of time spent asleep in a defined period of time https://orcid.org/0000-0003-4606-0597 reduction the amount of time spent asleep in a defined period of time 2025-02-17T21:19:16Z reduced sleep duration MPheno.ontology MP:0014639 decreased sleep duration MP:0014639 reduction the amount of time spent asleep in a defined period of time https://orcid.org/0000-0003-4606-0597 any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement in the horizontal (left-right) plane 2025-02-18T18:39:00Z abnormal HOKR MPheno.ontology MP:0014640 abnormal horizontal optokinetic reflex MP:0014640 any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement in the horizontal (left-right) plane PMID:6969184 any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement in the vertical (up-down) plane 2025-02-18T18:39:13Z abnormal VOKR MPheno.ontology MP:0014641 abnormal vertical optokinetic reflex MP:0014641 any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement in the vertical (up-down) plane PMID:12939299 increase in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement 2025-02-18T19:26:36Z increased OKR MPheno.ontology MP:0014642 increased optokinetic reflex MP:0014642 increase in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement PMID:25995483 increase in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement in the vertical (up-down) plane 2025-02-18T19:26:48Z increased VOKR MPheno.ontology MP:0014643 increased vertical optokinetic reflex MP:0014643 increase in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement in the vertical (up-down) plane https://orcid.org/0000-0003-4606-0597 increase in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement in the horizontal (left-right) plane 2025-02-18T19:27:05Z increased HOKR MPheno.ontology MP:0014644 increased horizontal optokinetic reflex MP:0014644 increase in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement in the horizontal (left-right) plane https://orcid.org/0000-0003-4606-0597 decrease in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement 2025-02-18T19:27:27Z decreased OKR MPheno.ontology MP:0014645 decreased optokinetic reflex MP:0014645 decrease in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement PMID:23301081 decrease in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement in the vertical (up-down) plane 2025-02-18T19:27:37Z decreased VOKR MPheno.ontology MP:0014646 decreased vertical optokinetic reflex MP:0014646 decrease in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement in the vertical (up-down) plane https://orcid.org/0000-0003-4606-0597 decrease in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement in the horizontal (left-right) plane 2025-02-18T19:27:48Z decreased HOKR MPheno.ontology MP:0014647 decreased horizontal optokinetic reflex MP:0014647 decrease in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement in the horizontal (left-right) plane PMID:17344385 any anomaly in the response of a nerve or nerves to compression induced injury 2025-02-18T21:06:54Z MPheno.ontology MP:0014648 abnormal response to nerve crush injury MP:0014648 any anomaly in the response of a nerve or nerves to compression induced injury PMID:17409231 more severe response of a nerve or nerves to compression injury 2025-02-18T21:10:44Z MPheno.ontology MP:0014649 increased susceptibility to nerve crush injury MP:0014649 more severe response of a nerve or nerves to compression injury PMID:17409231 less severe response of a nerve or nerves to compression injury 2025-02-18T21:10:53Z MPheno.ontology MP:0014650 decreased susceptibility to nerve crush injury MP:0014650 less severe response of a nerve or nerves to compression injury PMID:17409231 any anomaly in the size of the cellular organelles responsible for energy production located in skeletal muscle fibers 2025-03-18T18:31:43Z abnormal skeletal muscle fiber mitochondrion size abnormal skeletal muscle fibre mitochondria size MPheno.ontology MP:0014651 abnormal skeletal muscle fiber mitochondrial size MP:0014651 any anomaly in the size of the cellular organelles responsible for energy production located in skeletal muscle fibers https://orcid.org/0000-0003-4606-0597 increased size of the cellular organelles responsible for energy production located in skeletal muscle fibers 2025-03-18T18:32:14Z increased skeletal muscle fiber mitochondrion size increased skeletal muscle fibre mitochondria size MPheno.ontology MP:0014652 increased skeletal muscle fiber mitochondrial size MP:0014652 increased size of the cellular organelles responsible for energy production located in skeletal muscle fibers https://orcid.org/0000-0003-4606-0597 reduced size of the cellular organelles responsible for energy production located in skeletal muscle fibers 2025-03-18T18:32:36Z reduced skeletal muscle fiber mitochondrion size reduced skeletal muscle fibre mitochondria size MPheno.ontology MP:0014653 decreased skeletal muscle fiber mitochondrial size MP:0014653 reduced size of the cellular organelles responsible for energy production located in skeletal muscle fibers https://orcid.org/0000-0003-4606-0597 any anomaly in the characteristic surface outline or contour of a mitochondria located in a skeletal muscle fiber 2025-03-18T18:40:15Z abnormal skeletal muscle fiber mitochondrion shape abnormal skeletal muscle fibre mitochondria shape MPheno.ontology MP:0014654 abnormal skeletal muscle fiber mitochondrial shape MP:0014654 any anomaly in the characteristic surface outline or contour of a mitochondria located in a skeletal muscle fiber https://orcid.org/0000-0003-4606-0597 any anomaly in the curvature (bending) of the cornea 2025-04-21T17:22:35Z abnormal corneal curvature abnormality of the curvature of the cornea MPheno.ontology MP:0014655 abnormal cornea curvature MP:0014655 any anomaly in the curvature (bending) of the cornea PMID:28250050 https://orcid.org/0000-0003-4606-0597 increased curvature of the cornea 2025-04-21T17:27:36Z increased corneal curvature steep corneal curvature MPheno.ontology MP:0014656 increased cornea curvature MP:0014656 increased curvature of the cornea https://orcid.org/0000-0003-4606-0597 reduced curvature of the cornea 2025-04-21T17:27:44Z reduced corneal curvature MPheno.ontology MP:0014657 decreased cornea curvature MP:0014657 reduced curvature of the cornea PMID:28250050 https://orcid.org/0000-0003-4606-0597 absence of the wave in the electroretinogram that reflects the health of the outer layers of the retina, which includes the rod and cone cell bodies 2025-03-18T20:58:00Z MPheno.ontology MP:0014658 absent a-wave MP:0014658 absence of the wave in the electroretinogram that reflects the health of the outer layers of the retina, which includes the rod and cone cell bodies PMID:21555557 increased hardness of the skin with reduced ability to be stretched 2025-04-21T19:41:33Z stiff skin MPheno.ontology MP:0014659 Curator note: stiffness refers to the ability of the skin to stretch, turgor refers to the ability of the skin to bounce back into shape after being pinched or stretched increased skin stiffness MP:0014659 increased hardness of the skin with reduced ability to be stretched PMID:24107997 increase in the incidence of the visible, circumscribed, long-lasting lesions of the skin, reflecting genetic mosaicism, that do not typically show malignant growth 2025-04-21T20:23:03Z increased skin nevus incidence MPheno.ontology MP:0014660 increased skin nevi incidence MP:0014660 increase in the incidence of the visible, circumscribed, long-lasting lesions of the skin, reflecting genetic mosaicism, that do not typically show malignant growth PMID:19345328 https://doi.org/10.1159/000246468 anomaly in the expected number of the tightly packed collection of partially digested or undigested material in the gastrointestinal tract, most commonly in the stomach 2025-05-21T15:28:46Z MPheno.ontology MP:0014661 abnormal gastrointestinal bezoar incidence MP:0014661 anomaly in the expected number of the tightly packed collection of partially digested or undigested material in the gastrointestinal tract, most commonly in the stomach PMID:24672418 https://www.merckmanuals.com/professional/gastrointestinal-disorders/bezoars-and-foreign-bodies/bezoars anomaly in the expected number of the tightly packed collection of partially digested or undigested hair and food particles in the gastrointestinal tract, most commonly in the stomach 2025-05-21T15:47:16Z MPheno.ontology MP:0014662 abnormal gastrointestinal trichobezoar incidence MP:0014662 anomaly in the expected number of the tightly packed collection of partially digested or undigested hair and food particles in the gastrointestinal tract, most commonly in the stomach PMID:24672418 anomaly in the expected number of the tightly packed collection of partially digested or undigested milk proteins in the gastrointestinal tract, most commonly in the stomach 2025-05-21T19:04:10Z MPheno.ontology MP:0014663 abnormal gastrointestinal lactobezoar incidence MP:0014663 anomaly in the expected number of the tightly packed collection of partially digested or undigested milk proteins in the gastrointestinal tract, most commonly in the stomach PMID:24672418 anomaly in the expected number of the tightly packed collection of partially digested or undigested medications in the gastrointestinal tract, most commonly in the stomach 2025-05-21T19:23:36Z MPheno.ontology MP:0014664 abnormal gastrointestinal pharmacobezoar incidence MP:0014664 anomaly in the expected number of the tightly packed collection of indigestible food particles that are found in vegetable or fruit fibers in the gastrointestinal tract, most commonly in the stomach 2025-05-21T19:26:00Z MPheno.ontology MP:0014665 abnormal gastrointestinal phytobezoar incidence MP:0014665 anomaly in the expected number of the tightly packed collection of indigestible food particles that are found in vegetable or fruit fibers in the gastrointestinal tract, most commonly in the stomach PMID:24672418 any functional anomaly in the elongated neuroglial cells that traverse all the layers of the retina and that act as supporting elements 2025-05-22T18:53:10Z abnormal Mueller cell physiology abnormal Muller fiber physiology abnormal Muller fibre physiology abnormal Muller radial cell physiology MPheno.ontology MP:0014666 abnormal Muller cell physiology MP:0014666 any functional anomaly in the elongated neuroglial cells that traverse all the layers of the retina and that act as supporting elements PMID:32801350 http://purl.obolibrary.org/obo/CL_0000636 any functional anomaly in the radial astrocytes in the cerebellar cortex that have their cell bodies in the Purkinje cell layer and processes that extend into the molecular layer, terminating with bulbous endfeet at the pial surface 2025-05-22T19:09:24Z abnormal Bergmann astrocyte physiology abnormal Bergmann glial cell of cerebellum physiology MPheno.ontology MP:0014667 abnormal Bergmann glial cell physiology MP:0014667 any functional anomaly in the radial astrocytes in the cerebellar cortex that have their cell bodies in the Purkinje cell layer and processes that extend into the molecular layer, terminating with bulbous endfeet at the pial surface http://purl.obolibrary.org/obo/CL_0000644 any anomaly in the distance across the lens on the anterior-posterior axis (outside of eye to interior of eye) 2025-05-22T19:32:19Z MPheno.ontology MP:0014668 abnormal lens thickness MP:0014668 any anomaly in the distance across the lens on the anterior-posterior axis (outside of eye to interior of eye) PMID:18761481 PMID:19661239 PMID:40154727 increase in the distance across the lens on the anterior-posterior axis (outside of eye to interior of eye) 2025-05-22T19:32:32Z thick lens MPheno.ontology MP:0014669 increased lens thickness MP:0014669 increase in the distance across the lens on the anterior-posterior axis (outside of eye to interior of eye) PMID:18761481 PMID:19661239 PMID:40154727 reduction in the distance across the lens on the anterior-posterior axis (outside of eye to interior of eye) 2025-05-22T19:32:44Z reduced lens thickness thin lens MPheno.ontology MP:0014670 decreased lens thickness MP:0014670 reduction in the distance across the lens on the anterior-posterior axis (outside of eye to interior of eye) PMID:18761481 PMID:19661239 PMID:40154727 true MP:001871 anomaly in the immune response after exposure to an antigen nvasilevsky 2014-04-22T00:00:00Z MPheno.ontology MP:0020000 abnormal response to antigen MP:0020000 anomaly in the immune response after exposure to an antigen https://orcid.org/0000-0001-5208-3432 decreased or weak immune response after exposure to an antigen nvasilevsky 2014-04-22T00:00:00Z MPheno.ontology MP:0020001 decreased response to antigen MP:0020001 decreased or weak immune response after exposure to an antigen https://orcid.org/0000-0001-5208-3432 increased immune response after exposure to an antigen nvasilevsky 2014-04-22T00:00:00Z MPheno.ontology MP:0020002 increased response to antigen MP:0020002 increased immune response after exposure to an antigen https://orcid.org/0000-0001-5208-3432 an anomaly in the concentration of lipids that possess a sulfur-containing functional group nvasilevsky 2014-04-22T00:00:00Z MPheno.ontology MP:0020003 abnormal sulfolipid level MP:0020003 an anomaly in the concentration of lipids that possess a sulfur-containing functional group http://en.wikipedia.org/wiki/Sulfolipid https://orcid.org/0000-0001-5208-3432 anomaly in the concentration of the sulfolipids that contribute to myelin function and stability MP:0012229 nvasilevsky 2014-04-22T00:00:00Z abnormal sulphatide level MPheno.ontology MP:0020004 obsoleting term because it is a duplicate obsolete abnormal sulfatide level true MP:0020004 anomaly in the concentration of the sulfolipids that contribute to myelin function and stability http://en.wikipedia.org/wiki/sulfatide https://orcid.org/0000-0001-5208-3432 decreased concentration or amount of the sulfolipids that contribute to myelin function and stability nvasilevsky 2014-04-22T00:00:00Z decreased sulfatide level decreased sulphatide level MPheno.ontology MP:0020005 decreased sulfoglycosphingolipid level MP:0020005 decreased concentration or amount of the sulfolipids that contribute to myelin function and stability http://en.wikipedia.org/wiki/sulfatide https://orcid.org/0000-0001-5208-3432 increased concentration or amount of the sulfolipids that contribute to myelin function and stability nvasilevsky 2014-04-22T00:00:00Z increased sulfatide level increased sulphatide level MPheno.ontology MP:0020006 increased sulfoglycosphingolipid level MP:0020006 increased concentration or amount of the sulfolipids that contribute to myelin function and stability http://en.wikipedia.org/wiki/sulfatide https://orcid.org/0000-0001-5208-3432 decreased brain concentration of the sulfolipids that contribute to myelin function and stability nvasilevsky 2014-04-22T00:00:00Z decreased brain sulfatide level decreased brain sulphatide level MPheno.ontology MP:0020007 decreased brain sulfoglycosphingolipid level MP:0020007 decreased brain concentration of the sulfolipids that contribute to myelin function and stability http://en.wikipedia.org/wiki/sulfatide https://orcid.org/0000-0001-5208-3432 increased brain concentration of the sulfolipids that contribute to myelin function and stability nvasilevsky 2014-04-22T00:00:00Z increased brain sulfatide level increased brain sulphatide level MPheno.ontology MP:0020008 increased brain sulfoglycosphingolipid level MP:0020008 increased brain concentration of the sulfolipids that contribute to myelin function and stability http://en.wikipedia.org/wiki/sulfatide https://orcid.org/0000-0001-5208-3432 anomaly in the quantitative measurment of mineral content of bone in the long bone of the thigh nvasilevsky 2014-04-22T00:00:00Z abnormal BMD of femur abnormal femur bone mineral density MPheno.ontology MP:0020009 abnormal bone mineral density of femur MP:0020009 anomaly in the quantitative measurment of mineral content of bone in the long bone of the thigh https://orcid.org/0000-0001-5208-3432 reduction in the quantitative measurment value of mineral content of bone in the long bone of the thigh nvasilevsky 2014-04-22T00:00:00Z decreased BMD of femur decreased femur bone mineral density MPheno.ontology MP:0020010 decreased bone mineral density of femur MP:0020010 reduction in the quantitative measurment value of mineral content of bone in the long bone of the thigh https://orcid.org/0000-0001-5208-3432 elevation in the quantitative measurement value of mineral content of bone in the long bone of the thigh nvasilevsky 2014-04-22T00:00:00Z increased BMD of femur increased femur bone mineral density MPheno.ontology MP:0020011 increased bone mineral density of femur MP:0020011 elevation in the quantitative measurement value of mineral content of bone in the long bone of the thigh https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: a phenol sulfate + H2O = a phenol + sulfate nvasilevsky 2014-04-22T00:00:00Z MPheno.ontology MP:0020012 abnormal arylsulphatase activity MP:0020012 anomaly in the ability to catalyze the reaction: a phenol sulfate + H2O = a phenol + sulfate http://enzyme.expasy.org/EC/3.1.6.1 https://orcid.org/0000-0001-5208-3432 decreased ability to catalyze the reaction: a phenol sulfate + H2O = a phenol + sulfate nvasilevsky 2014-04-22T00:00:00Z MPheno.ontology MP:0020013 decreased arylsulphatase activity MP:0020013 decreased ability to catalyze the reaction: a phenol sulfate + H2O = a phenol + sulfate http://enzyme.expasy.org/EC/3.1.6.1 https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the reaction: a phenol sulfate + H2O = a phenol + sulfate nvasilevsky 2014-04-22T00:00:00Z MPheno.ontology MP:0020014 increased arylsulphatase activity MP:0020014 increased ability to catalyze the reaction: a phenol sulfate + H2O = a phenol + sulfate http://enzyme.expasy.org/EC/3.1.6.1 https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the oxidation (dehydrogenation) of aldehydes. nvasilevsky 2014-04-22T00:00:00Z MPheno.ontology MP:0020015 abnormal aldehyde dehydrogenase activity MP:0020015 anomaly in the ability to catalyze the oxidation (dehydrogenation) of aldehydes. http://en.wikipedia.org/wiki/Aldehyde_dehydrogenase https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the oxidation (dehydrogenation) of aldehydes. nvasilevsky 2014-04-22T00:00:00Z MPheno.ontology MP:0020016 decreased aldehyde dehydrogenase activity MP:0020016 increased ability to catalyze the oxidation (dehydrogenation) of aldehydes. http://en.wikipedia.org/wiki/Aldehyde_dehydrogenase https://orcid.org/0000-0001-5208-3432 decreased ability to catalyze the oxidation (dehydrogenation) of aldehydes. nvasilevsky 2014-04-22T00:00:00Z MPheno.ontology MP:0020017 increased aldehyde dehydrogenase activity MP:0020017 decreased ability to catalyze the oxidation (dehydrogenation) of aldehydes. http://en.wikipedia.org/wiki/Aldehyde_dehydrogenase https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: L-phenylalanine = phenylethylamine + CO2 nvasilevsky 2014-04-22T00:00:00Z abnormal aromatic L-amino acid decarboxylase activity MPheno.ontology MP:0020018 abnormal phenylalanine decarboxylase activity MP:0020018 anomaly in the ability to catalyze the reaction: L-phenylalanine = phenylethylamine + CO2 http://enzyme.expasy.org/EC/4.1.1.53 https://orcid.org/0000-0001-5208-3432 decreased ability to catalyze the reaction: L-phenylalanine = phenylethylamine + CO2 nvasilevsky 2014-04-22T00:00:00Z decreased aromatic L-amino acid decarboxylase activity MPheno.ontology MP:0020019 decreased phenylalanine decarboxylase activity MP:0020019 decreased ability to catalyze the reaction: L-phenylalanine = phenylethylamine + CO2 http://enzyme.expasy.org/EC/4.1.1.53 https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the reaction: L-phenylalanine = phenylethylamine + CO2 nvasilevsky 2014-04-22T00:00:00Z increased aromatic L-amino acid decarboxylase activity MPheno.ontology MP:0020020 increased phenylalanine decarboxylase activity MP:0020020 increased ability to catalyze the reaction: L-phenylalanine = phenylethylamine + CO2 http://enzyme.expasy.org/EC/4.1.1.53 https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: 2 5-aminolevulinate = 2 H(2)O + H(+) + porphobilinogen nvasilevsky 2014-04-22T00:00:00Z abnormal porphobilinogen synthase activity MPheno.ontology MP:0020021 abnormal delta-aminolaevulinate dehydratase activity MP:0020021 anomaly in the ability to catalyze the reaction: 2 5-aminolevulinate = 2 H(2)O + H(+) + porphobilinogen http://enzyme.expasy.org/EC/4.2.1.24 https://orcid.org/0000-0001-5208-3432 decreased ability to catalyze the reaction: 2 5-aminolevulinate = 2 H(2)O + H(+) + porphobilinogen nvasilevsky 2014-04-22T00:00:00Z decreased porphobilinogen synthase activity MPheno.ontology MP:0020022 decreased delta-aminolaevulinate dehydratase activity MP:0020022 decreased ability to catalyze the reaction: 2 5-aminolevulinate = 2 H(2)O + H(+) + porphobilinogen http://enzyme.expasy.org/EC/4.2.1.24 https://orcid.org/0000-0001-5208-3432 decreased ability to catalyze the reaction in the liver: 2 5-aminolevulinate = 2 H(2)O + H(+) + porphobilinogen nvasilevsky 2014-04-22T00:00:00Z decreased hepatic porphobilinogen synthase activity MPheno.ontology MP:0020023 decreased hepatic delta-aminolaevulinate dehydratase activity MP:0020023 decreased ability to catalyze the reaction in the liver: 2 5-aminolevulinate = 2 H(2)O + H(+) + porphobilinogen http://enzyme.expasy.org/EC/4.2.1.24 https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the reaction: 2 5-aminolevulinate = 2 H(2)O + H(+) + porphobilinogen nvasilevsky 2014-04-22T00:00:00Z increased porphobilinogen synthase activity MPheno.ontology MP:0020024 increased delta-aminolaevulinate dehydratase activity MP:0020024 increased ability to catalyze the reaction: 2 5-aminolevulinate = 2 H(2)O + H(+) + porphobilinogen http://enzyme.expasy.org/EC/4.2.1.24 https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the reaction in the liver: 2 5-aminolevulinate = 2 H(2)O + H(+) + porphobilinogen nvasilevsky 2014-04-22T00:00:00Z increased hepatic porphobilinogen synthase activity MPheno.ontology MP:0020025 increased hepatic delta-aminolaevulinate dehydratase activity MP:0020025 increased ability to catalyze the reaction in the liver: 2 5-aminolevulinate = 2 H(2)O + H(+) + porphobilinogen http://enzyme.expasy.org/EC/4.2.1.24 https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: an aldehyde + H2O + O2 = a carboxylic acid + hydrogen peroxide nvasilevsky 2014-04-22T00:00:00Z MPheno.ontology MP:0020026 abnormal aldehyde oxidase activity MP:0020026 anomaly in the ability to catalyze the reaction: an aldehyde + H2O + O2 = a carboxylic acid + hydrogen peroxide http://enzyme.expasy.org/EC/1.2.3.1 https://orcid.org/0000-0001-5208-3432 decreased ability to catalyze the reaction:an aldehyde + H2O + O2 = a carboxylic acid + hydrogen peroxide nvasilevsky 2014-04-22T00:00:00Z MPheno.ontology MP:0020027 decreased aldehyde oxidase activity MP:0020027 decreased ability to catalyze the reaction:an aldehyde + H2O + O2 = a carboxylic acid + hydrogen peroxide http://enzyme.expasy.org/EC/1.2.3.1 https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the reaction: an aldehyde + H2O + O2 = a carboxylic acid + hydrogen peroxide nvasilevsky 2014-04-22T00:00:00Z MPheno.ontology MP:0020028 increased aldehyde oxidase activity MP:0020028 increased ability to catalyze the reaction: an aldehyde + H2O + O2 = a carboxylic acid + hydrogen peroxide http://enzyme.expasy.org/EC/1.2.3.1 https://orcid.org/0000-0001-5208-3432 aberrant activity of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid nvasilevsky 2014-04-29T00:00:00Z abnormal BtChoEase activity abnormal acylcholine acylhydrolase activity abnormal anticholineesterase activity abnormal benzoylcholinesterase activity abnormal butyrylcholine esterase activity abnormal butyrylcholinesterase activity abnormal choline esterase II (unspecific) activity abnormal choline esterase activity abnormal non-specific cholinesterase activity abnormal propionylcholinesterase activity abnormal pseudocholinesterase activity MPheno.ontology MP:0020029 abnormal cholinesterase activity MP:0020029 aberrant activity of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid http://en.wikipedia.org/wiki/Cholinesterase https://orcid.org/0000-0001-5208-3432 aberrant activity of the blood of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid nvasilevsky 2014-04-29T00:00:00Z abnormal circulating BtChoEase activity abnormal circulating acylcholine acylhydrolase activity abnormal circulating anticholineesterase activity abnormal circulating benzoylcholinesterase activity abnormal circulating butyrylcholine esterase activity abnormal circulating butyrylcholinesterase activity abnormal circulating choline esterase II (unspecific) activity abnormal circulating choline esterase activity abnormal circulating non-specific cholinesterase activity abnormal circulating propionylcholinesterase activity abnormal circulating pseudocholinesterase activity MPheno.ontology MP:0020030 abnormal circulating cholinesterase activity MP:0020030 aberrant activity of the blood of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid http://en.wikipedia.org/wiki/Cholinesterase https://orcid.org/0000-0001-5208-3432 decreased activity of the blood of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid nvasilevsky 2014-04-29T00:00:00Z decreased plasma cholinesterase activity MPheno.ontology MP:0020031 decreased circulating cholinesterase activity MP:0020031 decreased activity of the blood of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid http://en.wikipedia.org/wiki/Cholinesterase https://orcid.org/0000-0001-5208-3432 increased activity of the blood of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid nvasilevsky 2014-04-29T00:00:00Z increased plasma cholinesterase activity MPheno.ontology MP:0020032 increased circulating cholinesterase activity MP:0020032 increased activity of the blood of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid http://en.wikipedia.org/wiki/Cholinesterase https://orcid.org/0000-0001-5208-3432 increased activity of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid nvasilevsky 2014-04-29T00:00:00Z increased BtChoEase activity increased acylcholine acylhydrolase activity increased anticholineesterase activity increased benzoylcholinesterase activity increased butyrylcholine esterase activity increased butyrylcholinesterase activity increased choline esterase II (unspecific) activity increased choline esterase activity increased non-specific cholinesterase activity increased propionylcholinesterase activity increased pseudocholinesterase activity MPheno.ontology MP:0020033 increased cholinesterase activity MP:0020033 increased activity of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid http://en.wikipedia.org/wiki/Cholinesterase https://orcid.org/0000-0001-5208-3432 decreased activity of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid nvasilevsky 2014-04-29T00:00:00Z decreased BtChoEase activity decreased acylcholine acylhydrolase activity decreased anticholineesterase activity decreased benzoylcholinesterase activity decreased butyrylcholine esterase activity decreased butyrylcholinesterase activity decreased choline esterase II (unspecific) activity decreased choline esterase activity decreased non-specific cholinesterase activity decreased propionylcholinesterase activity decreased pseudocholinesterase activity MPheno.ontology MP:0020034 decreased cholinesterase activity MP:0020034 decreased activity of the enzymes that catalyze the hydrolysis of the neurotransmitter acetylcholine into choline and acetic acid http://en.wikipedia.org/wiki/Cholinesterase https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: coumarin + O2 + NADPH + H+ = hydroxycoumarin + H2O + NADP+ nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020035 abnormal coumarin hydroxylase activity MP:0020035 anomaly in the ability to catalyze the reaction: coumarin + O2 + NADPH + H+ = hydroxycoumarin + H2O + NADP+ GO:0008389 https://orcid.org/0000-0001-5208-3432 decreased ability to catalyze the reaction: coumarin + O2 + NADPH + H+ = hydroxycoumarin + H2O + NADP+ nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020036 decreased coumarin hydroxylase activity MP:0020036 decreased ability to catalyze the reaction: coumarin + O2 + NADPH + H+ = hydroxycoumarin + H2O + NADP+ GO:0008389 https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the reaction: coumarin + O2 + NADPH + H+ = hydroxycoumarin + H2O + NADP+ nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020037 increased coumarin hydroxylase activity MP:0020037 increased ability to catalyze the reaction: coumarin + O2 + NADPH + H+ = hydroxycoumarin + H2O + NADP+ GO:0008389 https://orcid.org/0000-0001-5208-3432 retrogressive pathological change of the macula lutea retinal macular degeneration MPheno.ontology MP:0020038 retina macular degeneration MP:0020038 retrogressive pathological change of the macula lutea https://orcid.org/0000-0003-4606-0597 increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance MPheno.ontology MP:0020039 increased bone ossification MP:0020039 increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance https://orcid.org/0000-0003-4606-0597 decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance MPheno.ontology MP:0020040 decreased bone ossification MP:0020040 decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance https://orcid.org/0000-0003-4606-0597 decreased likelihood of the presence of an eosinophilic hyaline (glass-like) material composed of fibrin, proteinaceous exudate and cellular debris, and lining or filling the alveoli, alveolar ducts and bronchioles nvasilevsky 2014-04-23T00:00:00Z increased resistance to pulmonary hyaline membrane formation reduced susceptibility to pulmonary hyaline membrane formation resistant to pulmonary hyaline membrane formation MPheno.ontology MP:0020041 decreased susceptibility to pulmonary hyaline membrane formation MP:0020041 decreased likelihood of the presence of an eosinophilic hyaline (glass-like) material composed of fibrin, proteinaceous exudate and cellular debris, and lining or filling the alveoli, alveolar ducts and bronchioles https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020042 abnormal glucose-6-phosphate dehydrogenase activity MP:0020042 anomaly in the ability to catalyze the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ http://enzyme.expasy.org/EC/1.1.1.49 https://orcid.org/0000-0001-5208-3432 decreased ability to catalyze the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020043 decreased glucose-6-phosphate dehydrogenase activity MP:0020043 decreased ability to catalyze the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ http://enzyme.expasy.org/EC/1.1.1.49 https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020044 increased glucose-6-phosphate dehydrogenase activity MP:0020044 increased ability to catalyze the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ http://enzyme.expasy.org/EC/1.1.1.49 https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the transfer of an amino group from L-tyrosine to an acceptor, usually a 2-oxo acid nvasilevsky 2014-04-23T00:00:00Z abnormal L-tyrosine aminotransferase activity MPheno.ontology MP:0020045 abnormal tyrosine aminotransferase activity MP:0020045 anomaly in the ability to catalyze the transfer of an amino group from L-tyrosine to an acceptor, usually a 2-oxo acid GO:0070547 https://orcid.org/0000-0001-5208-3432 decreased ability to catalyze the transfer of an amino group from L-tyrosine to an acceptor, usually a 2-oxo acid nvasilevsky 2014-04-23T00:00:00Z decreased L-tyrosine aminotransferase activity MPheno.ontology MP:0020046 decreased tyrosine aminotransferase activity MP:0020046 decreased ability to catalyze the transfer of an amino group from L-tyrosine to an acceptor, usually a 2-oxo acid GO:0070547 https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the transfer of an amino group from L-tyrosine to an acceptor, usually a 2-oxo acid nvasilevsky 2014-04-23T00:00:00Z increased L-tyrosine aminotransferase activity MPheno.ontology MP:0020047 increased tyrosine aminotransferase activity MP:0020047 increased ability to catalyze the transfer of an amino group from L-tyrosine to an acceptor, usually a 2-oxo acid GO:0070547 https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: alpha-maltose + H2O = 2 alpha-D-glucose nvasilevsky abnormal maltose alpha-glucosidase activity MPheno.ontology MP:0020048 abnormal maltase activity MP:0020048 anomaly in the ability to catalyze the reaction: alpha-maltose + H2O = 2 alpha-D-glucose http://biocyc.org/META/NEW-IMAGE?type=NIL&object=RXN-2141 https://orcid.org/0000-0001-5208-3432 decreased ability to catalyze the reaction:alpha-maltose + H2O = 2 alpha-D-glucose nvasilevsky 2014-04-23T00:00:00Z decreased maltose alpha-glucosidase activity MPheno.ontology MP:0020049 decreased maltase activity MP:0020049 decreased ability to catalyze the reaction:alpha-maltose + H2O = 2 alpha-D-glucose http://biocyc.org/META/NEW-IMAGE?type=NIL&object=RXN-2141 https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the reaction:alpha-maltose + H2O = 2 alpha-D-glucose nvasilevsky 2014-04-23T00:00:00Z increased maltose alpha-glucosidase activity MPheno.ontology MP:0020050 increased maltase activity MP:0020050 increased ability to catalyze the reaction:alpha-maltose + H2O = 2 alpha-D-glucose http://biocyc.org/META/NEW-IMAGE?type=NIL&object=RXN-2141 https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: procollagen L-proline + 2-oxoglutarate + O2 = procollagen trans-4-hydroxy-L-proline + succinate + CO2 nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020051 abnormal procollagen-proline 4-dioxygenase activity MP:0020051 anomaly in the ability to catalyze the reaction: procollagen L-proline + 2-oxoglutarate + O2 = procollagen trans-4-hydroxy-L-proline + succinate + CO2 http://enzyme.expasy.org/EC/1.14.11.2 https://orcid.org/0000-0001-5208-3432 decreased ability to catalyze the reaction: procollagen L-proline + 2-oxoglutarate + O2 = procollagen trans-4-hydroxy-L-proline + succinate + CO2 nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020052 decreased procollagen-proline 4-dioxygenase activity MP:0020052 decreased ability to catalyze the reaction: procollagen L-proline + 2-oxoglutarate + O2 = procollagen trans-4-hydroxy-L-proline + succinate + CO2 http://enzyme.expasy.org/EC/1.14.11.2 https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the reaction: procollagen L-proline + 2-oxoglutarate + O2 = procollagen trans-4-hydroxy-L-proline + succinate + CO2 nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020053 increased procollagen-proline 4-dioxygenase activity MP:0020053 increased ability to catalyze the reaction: procollagen L-proline + 2-oxoglutarate + O2 = procollagen trans-4-hydroxy-L-proline + succinate + CO2 http://enzyme.expasy.org/EC/1.14.11.2 https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020054 abnormal beta-glucuronidase activity MP:0020054 anomaly in the ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate http://enzyme.expasy.org/EC/3.2.1.31 https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate in the spermatozoa nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020055 abnormal spermatazoal beta-glucuronidase activity MP:0020055 anomaly in the ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate in the spermatozoa http://enzyme.expasy.org/EC/3.2.1.31 https://orcid.org/0000-0001-5208-3432 reduced ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020056 decreased beta-glucuronidase activity MP:0020056 reduced ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate http://enzyme.expasy.org/EC/3.2.1.31 https://orcid.org/0000-0001-5208-3432 reduced ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate in the spermatozoa nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020057 decreased spermatazoal beta-glucuronidase activity MP:0020057 reduced ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate in the spermatozoa http://enzyme.expasy.org/EC/3.2.1.31 https://orcid.org/0000-0001-5208-3432 greater ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020058 increased beta-glucuronidase activity MP:0020058 greater ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate http://enzyme.expasy.org/EC/3.2.1.31 https://orcid.org/0000-0001-5208-3432 greater ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate in the spermatozoa nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020059 increased spermatazoal beta-glucuronidase activity MP:0020059 greater ability to catalyze the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate in the spermatozoa http://enzyme.expasy.org/EC/3.2.1.31 https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020060 abnormal hypoxanthine phosphoribosyltransferase activity MP:0020060 anomaly in the ability to catalyze the reaction: IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate http://enzyme.expasy.org/EC/2.4.2.8 https://orcid.org/0000-0001-5208-3432 decreased ability to catalyze the reaction: IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020061 decreased hypoxanthine phosphoribosyltransferase activity MP:0020061 decreased ability to catalyze the reaction: IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate http://enzyme.expasy.org/EC/2.4.2.8 https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the reaction: IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020062 increased hypoxanthine phosphoribosyltransferase activity MP:0020062 increased ability to catalyze the reaction: IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate http://enzyme.expasy.org/EC/2.4.2.8 https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020063 abnormal thiopurine S-methyltransferase activity MP:0020063 anomaly in the ability to catalyze the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether http://enzyme.expasy.org/EC/2.1.1.67 https://orcid.org/0000-0001-5208-3432 decreased ability to catalyze the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020064 decreased thiopurine S-methyltransferase activity MP:0020064 decreased ability to catalyze the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether http://enzyme.expasy.org/EC/2.1.1.67 https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020065 increased thiopurine S-methyltransferase activity MP:0020065 increased ability to catalyze the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether http://enzyme.expasy.org/EC/2.1.1.67 https://orcid.org/0000-0001-5208-3432 deviation from the average range of neocortex size compared to normal nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020066 abnormal neocortex size MP:0020066 deviation from the average range of neocortex size compared to normal https://orcid.org/0000-0001-5208-3432 greater than average size of the neocortex nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020067 increased neocortex size MP:0020067 greater than average size of the neocortex https://orcid.org/0000-0001-5208-3432 increase from the average range of neocortex volume compared to normal nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020068 increased neocortex volume MP:0020068 increase from the average range of neocortex volume compared to normal https://orcid.org/0000-0001-5208-3432 size reduction or truncation of the neocortex nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020069 decreased neocortex size MP:0020069 size reduction or truncation of the neocortex https://orcid.org/0000-0001-5208-3432 decrease from the average range of neocortex volume compared to normal nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020070 decreased neocortex volume MP:0020070 decrease from the average range of neocortex volume compared to normal https://orcid.org/0000-0001-5208-3432 reduced ability of the catalase enzyme in the blood to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020071 decreased blood catalase activity MP:0020071 reduced ability of the catalase enzyme in the blood to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O https://orcid.org/0000-0001-5208-3432 increased ability of the catalase enzyme in the blood to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020072 increased blood catalase activity MP:0020072 increased ability of the catalase enzyme in the blood to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine nvasilevsky 2014-04-23T00:00:00Z abnormal L-tyrosine hydroxylase activity abnormal L-tyrosine,tetrahydrobiopterin:oxygen oxidoreductase (3-hydroxylating) activity abnormal tyrosine 3-hydroxylase activity abnormal tyrosine hydroxylase activity MPheno.ontology MP:0020073 abnormal tyrosine 3-monooxygenase activity MP:0020073 anomaly in the ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine http://en.wikipedia.org/wiki/Tyrosine_hydroxylase https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine in the brain nvasilevsky 2014-04-23T00:00:00Z abnormal brain tyrosine hydroxylase activity MPheno.ontology MP:0020074 abnormal brain tyrosine 3-monooxygenase activity MP:0020074 anomaly in the ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine in the brain http://en.wikipedia.org/wiki/Tyrosine_hydroxylase https://orcid.org/0000-0001-5208-3432 greater ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine nvasilevsky 2014-04-23T00:00:00Z increased tyrosine hydroxylase activity MPheno.ontology MP:0020075 increased tyrosine 3-monooxygenase activity MP:0020075 greater ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine http://en.wikipedia.org/wiki/Tyrosine_hydroxylase https://orcid.org/0000-0001-5208-3432 greater ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine in the brain nvasilevsky 2014-04-23T00:00:00Z increased brain tyrosine hydroxylase activity MPheno.ontology MP:0020076 increased brain tyrosine 3-monooxygenase activity MP:0020076 greater ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine in the brain http://en.wikipedia.org/wiki/Tyrosine_hydroxylase https://orcid.org/0000-0001-5208-3432 reduction in the ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine nvasilevsky 2014-04-23T00:00:00Z decreased tyrosine hydroxylase activity MPheno.ontology MP:0020077 decreased tyrosine 3-monooxygenase activity MP:0020077 reduction in the ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine http://en.wikipedia.org/wiki/Tyrosine_hydroxylase https://orcid.org/0000-0001-5208-3432 reduction in the ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine in the brain nvasilevsky 2014-04-23T00:00:00Z decreased brain tyrosine hydroxylase activity MPheno.ontology MP:0020078 decreased brain tyrosine 3-monooxygenase activity MP:0020078 reduction in the ability to catalyze the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine in the brain http://en.wikipedia.org/wiki/Tyrosine_hydroxylase https://orcid.org/0000-0001-5208-3432 increased incidence of mineral deposits in the epicardial tissue nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020079 increased incidence of epicardial mineralization MP:0020079 increased incidence of mineral deposits in the epicardial tissue https://orcid.org/0000-0001-5208-3432 increase in the rate at which minerals are deposited into bone MPheno.ontology MP:0020080 increased bone mineralization MP:0020080 increase in the rate at which minerals are deposited into bone https://orcid.org/0000-0003-4606-0597 deterioration or the inflammation of the myocardium often caused by oxygen deprivation. It generally occurs as a result of obstruction of the blood supply and can trigger a heart attack nvasilevsky 2014-04-23T00:00:00Z degenerative myocardium myocardial degeneration MPheno.ontology MP:0020081 myocardium degeneration MP:0020081 deterioration or the inflammation of the myocardium often caused by oxygen deprivation. It generally occurs as a result of obstruction of the blood supply and can trigger a heart attack http://www.ask.com/question/what-is-myocardial-degeneration https://orcid.org/0000-0001-5208-3432 deviation from the average range of the hippocampus volume compared to normal nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020082 increased hippocampus volume MP:0020082 deviation from the average range of the hippocampus volume compared to normal https://orcid.org/0000-0001-5208-3432 decrease from the average range of the hippocampus volume compared to normal nvasilevsky 2014-04-23T00:00:00Z MPheno.ontology MP:0020083 decreased hippocampus volume MP:0020083 decrease from the average range of the hippocampus volume compared to normal https://orcid.org/0000-0001-5208-3432 reduced length of the ears nvasilevsky 2014-04-23T00:00:00Z decreased outer ear length MPheno.ontology MP:0020084 short ears MP:0020084 reduced length of the ears https://orcid.org/0000-0001-5208-3432 increased length of the ears nvasilevsky 2014-04-23T00:00:00Z increased outer ear length MPheno.ontology MP:0020085 long ears MP:0020085 increased length of the ears https://orcid.org/0000-0001-5208-3432 an anomaly in the likelihood to develop non-insulin-dependent diabetes nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020086 abnormal susceptibility to non-insulin-dependent diabetes MP:0020086 an anomaly in the likelihood to develop non-insulin-dependent diabetes https://orcid.org/0000-0001-5208-3432 increased likelihood to develop non-insulin-dependent diabetes nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020087 increased susceptibility to non-insulin-dependent diabetes MP:0020087 increased likelihood to develop non-insulin-dependent diabetes https://orcid.org/0000-0001-5208-3432 decreased likelihood to develop non-insulin-dependent diabetes nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020088 decreased susceptibility to non-insulin-dependent diabetes MP:0020088 decreased likelihood to develop non-insulin-dependent diabetes https://orcid.org/0000-0001-5208-3432 increased likelihood to develop diet-induced non-insulin-dependent diabetes nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020089 increased susceptibility to diet-induced non-insulin dependent diabetes MP:0020089 increased likelihood to develop diet-induced non-insulin-dependent diabetes https://orcid.org/0000-0001-5208-3432 decreased likelihood to develop diet-induced non-insulin-dependent diabetes nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020090 decreased susceptibility to diet-induced non-insulin dependent diabetes MP:0020090 decreased likelihood to develop diet-induced non-insulin-dependent diabetes https://orcid.org/0000-0001-5208-3432 an anomaly in the likelihood to develop diet-induced non-insulin-dependent diabetes nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020091 abnormal susceptibility to diet-induced non-insulin dependent diabetes MP:0020091 an anomaly in the likelihood to develop diet-induced non-insulin-dependent diabetes https://orcid.org/0000-0001-5208-3432 an anomaly in the susceptibility to the transformation of cells comprising the aorta epithelium to arterial chondrocytes that express type II collagen, resulting in heterotopic formation of cartilage and may lead to calcification in the aorta nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020092 abnormal susceptibility to aortic cartilaginous metaplasia MP:0020092 an anomaly in the susceptibility to the transformation of cells comprising the aorta epithelium to arterial chondrocytes that express type II collagen, resulting in heterotopic formation of cartilage and may lead to calcification in the aorta https://orcid.org/0000-0001-5208-3432 decreased susceptibility to the transformation of cells comprising the aorta epithelium to arterial chondrocytes that express type II collagen, resulting in heterotopic formation of cartilage and may lead to calcification in the aorta nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020093 decreased susceptibility to aortic cartilaginous metaplasia MP:0020093 decreased susceptibility to the transformation of cells comprising the aorta epithelium to arterial chondrocytes that express type II collagen, resulting in heterotopic formation of cartilage and may lead to calcification in the aorta https://orcid.org/0000-0001-5208-3432 increased susceptibility to the transformation of cells comprising the aorta epithelium to arterial chondrocytes that express type II collagen, resulting in heterotopic formation of cartilage and may lead to calcification in the aorta nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020094 increased susceptibility to aortic cartilaginous metaplasia MP:0020094 increased susceptibility to the transformation of cells comprising the aorta epithelium to arterial chondrocytes that express type II collagen, resulting in heterotopic formation of cartilage and may lead to calcification in the aorta https://orcid.org/0000-0001-5208-3432 an anomaly in the mean of the physiological adaptations of the organisms heart rate in response to long term endurance training nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020095 abnormal mean heart rate adaptation MP:0020095 an anomaly in the mean of the physiological adaptations of the organisms heart rate in response to long term endurance training http://en.wikipedia.org/wiki/Endurance_training https://orcid.org/0000-0001-5208-3432 higher than normal mean of the physiological adaptations of the organisms heart rate in response to long term endurance training nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020096 high mean heart rate adaptation MP:0020096 higher than normal mean of the physiological adaptations of the organisms heart rate in response to long term endurance training http://en.wikipedia.org/wiki/Endurance_training https://orcid.org/0000-0001-5208-3432 lower than normal mean of the physiological adaptations of the organisms heart rate in response to long term endurance training nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020097 low mean heart rate adaptation MP:0020097 lower than normal mean of the physiological adaptations of the organisms heart rate in response to long term endurance training http://en.wikipedia.org/wiki/Endurance_training https://orcid.org/0000-0001-5208-3432 an anomaly in the susceptibility to development of diet-induced fatty streak lesions, the earliest lesions seen with athersclerosis in arteries nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020098 abnormal susceptibility to diet-induced aortic fatty streak lesions MP:0020098 an anomaly in the susceptibility to development of diet-induced fatty streak lesions, the earliest lesions seen with athersclerosis in arteries http://library.med.utah.edu/WebPath/CVHTML/CV114.html https://orcid.org/0000-0001-5208-3432 increased susceptibility to development of diet-induced fatty streak lesions, the earliest lesions seen with athersclerosis in arteries nvasilevsky 2014-04-28T00:00:00Z decreased resistance to diet-induced aortic fatty streak lesions MPheno.ontology MP:0020099 increased susceptibility to diet-induced aortic fatty streak lesions MP:0020099 increased susceptibility to development of diet-induced fatty streak lesions, the earliest lesions seen with athersclerosis in arteries http://library.med.utah.edu/WebPath/CVHTML/CV114.html https://orcid.org/0000-0001-5208-3432 decreased susceptibility to development of diet-induced fatty streak lesions, the earliest lesions seen with athersclerosis in arteries nvasilevsky 2014-04-28T00:00:00Z increased resistance to diet-induced aortic fatty streak lesions MPheno.ontology MP:0020100 decreased susceptibility to diet-induced aortic fatty streak lesions MP:0020100 decreased susceptibility to development of diet-induced fatty streak lesions, the earliest lesions seen with athersclerosis in arteries http://library.med.utah.edu/WebPath/CVHTML/CV114.html https://orcid.org/0000-0001-5208-3432 an anomaly in the production of glucose in the liver nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020101 abnormal hepatic glucose production MP:0020101 an anomaly in the production of glucose in the liver https://orcid.org/0000-0001-5208-3432 increased production of glucose in the liver nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020102 increased hepatic glucose production MP:0020102 increased production of glucose in the liver https://orcid.org/0000-0001-5208-3432 decreased production of glucose in the liver nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020103 decreased hepatic glucose production MP:0020103 decreased production of glucose in the liver https://orcid.org/0000-0001-5208-3432 altered level of nitrate ion in fluids and tissues nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020104 abnormal nitrate level MP:0020104 altered level of nitrate ion in fluids and tissues https://orcid.org/0000-0001-5208-3432 increased level of nitrate ion in fluids and tissues nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020105 increased nitrate level MP:0020105 increased level of nitrate ion in fluids and tissues https://orcid.org/0000-0001-5208-3432 decreased level of nitrate ion in fluids and tissues nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020106 decreased nitrate level MP:0020106 decreased level of nitrate ion in fluids and tissues https://orcid.org/0000-0001-5208-3432 altered level of nitrite ion in fluids and tissues nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020107 abnormal nitrite level MP:0020107 altered level of nitrite ion in fluids and tissues https://orcid.org/0000-0001-5208-3432 increased level of nitrite ion in fluids and tissues nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020108 increased nitrite level MP:0020108 increased level of nitrite ion in fluids and tissues https://orcid.org/0000-0001-5208-3432 decreased level of nitrite ion in fluids and tissues nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020109 decreased nitrite level MP:0020109 decreased level of nitrite ion in fluids and tissues https://orcid.org/0000-0001-5208-3432 increased concentrations of thromboxane, a lipid that has a role in clot formation (thrombosis) nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020110 increased thromboxane level MP:0020110 increased concentrations of thromboxane, a lipid that has a role in clot formation (thrombosis) http://en.wikipedia.org/wiki/Thromboxane https://orcid.org/0000-0001-5208-3432 decreased concentrations of thromboxane, a lipid that has a role in clot formation (thrombosis) nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020111 decreased thromboxane level MP:0020111 decreased concentrations of thromboxane, a lipid that has a role in clot formation (thrombosis) http://en.wikipedia.org/wiki/Thromboxane https://orcid.org/0000-0001-5208-3432 any anomaly in the total lipid content on the carcass of an organism nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020112 abnormal carcass lipid MP:0020112 any anomaly in the total lipid content on the carcass of an organism PMID:3959773 https://orcid.org/0000-0001-5208-3432 increased total lipid content on the carcass of an organism nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020113 high carcass lipid MP:0020113 increased total lipid content on the carcass of an organism PMID:3959773 https://orcid.org/0000-0001-5208-3432 decreased total lipid content on the carcass of an organism nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020114 low carcass lipid MP:0020114 decreased total lipid content on the carcass of an organism PMID:3959773 https://orcid.org/0000-0001-5208-3432 any anomaly in the concentrations of sphingosine, an 18-carbon amino alcohol with an unsaturated hydrocarbon chain, which forms a primary part of sphingolipids, a class of cell membrane lipids that include sphingomyelin, an important phospholipid nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020115 abnormal sphingosine level MP:0020115 any anomaly in the concentrations of sphingosine, an 18-carbon amino alcohol with an unsaturated hydrocarbon chain, which forms a primary part of sphingolipids, a class of cell membrane lipids that include sphingomyelin, an important phospholipid http://en.wikipedia.org/wiki/Sphingosine https://orcid.org/0000-0001-5208-3432 increased concentrations of sphingosine, an 18-carbon amino alcohol with an unsaturated hydrocarbon chain, which forms a primary part of sphingolipids, a class of cell membrane lipids that include sphingomyelin, an important phospholipid nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020116 increased sphingosine level MP:0020116 increased concentrations of sphingosine, an 18-carbon amino alcohol with an unsaturated hydrocarbon chain, which forms a primary part of sphingolipids, a class of cell membrane lipids that include sphingomyelin, an important phospholipid http://en.wikipedia.org/wiki/Sphingosine https://orcid.org/0000-0001-5208-3432 decreased concentrations of sphingosine, an 18-carbon amino alcohol with an unsaturated hydrocarbon chain, which forms a primary part of sphingolipids, a class of cell membrane lipids that include sphingomyelin, an important phospholipid nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020117 decreased sphingosine level MP:0020117 decreased concentrations of sphingosine, an 18-carbon amino alcohol with an unsaturated hydrocarbon chain, which forms a primary part of sphingolipids, a class of cell membrane lipids that include sphingomyelin, an important phospholipid http://en.wikipedia.org/wiki/Sphingosine https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: a primary alcohol + acceptor = an aldehyde + reduced acceptor nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020118 abnormal alcohol dehydrogenase activity MP:0020118 anomaly in the ability to catalyze the reaction: a primary alcohol + acceptor = an aldehyde + reduced acceptor GO:0018468 https://orcid.org/0000-0001-5208-3432 decreased ability to catalyze the reaction: a primary alcohol + acceptor = an aldehyde + reduced acceptor nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020119 decreased alcohol dehydrogenase activity MP:0020119 decreased ability to catalyze the reaction: a primary alcohol + acceptor = an aldehyde + reduced acceptor GO:0018468 https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the reaction: a primary alcohol + acceptor = an aldehyde + reduced acceptor nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020120 increased alcohol dehydrogenase activity MP:0020120 increased ability to catalyze the reaction: a primary alcohol + acceptor = an aldehyde + reduced acceptor GO:0018468 https://orcid.org/0000-0001-5208-3432 anomaly in the ability to catalyze the reaction: L-tyrosine + tetrahydrobiopterin + O2 = 3,4-dihydroxy-L-phenylalanine + 4-alpha-hydroxytetrahydrobiopterin + H2O MP:0020073 nvasilevsky 2014-04-28T00:00:00Z abnormal tyrosine hydroxylase activity MPheno.ontology MP:0020121 obsoleted because it is a duplicate term obsolete abnormal tyrosine 3-monooxygenase activity true MP:0020121 anomaly in the ability to catalyze the reaction: L-tyrosine + tetrahydrobiopterin + O2 = 3,4-dihydroxy-L-phenylalanine + 4-alpha-hydroxytetrahydrobiopterin + H2O http://enzyme.expasy.org/EC/4.1.1.53 https://orcid.org/0000-0001-5208-3432 decreased ability to catalyze the reaction: L-tyrosine + tetrahydrobiopterin + O2 = 3,4-dihydroxy-L-phenylalanine + 4-alpha-hydroxytetrahydrobiopterin + H2O MP:0020077 nvasilevsky 2014-04-28T00:00:00Z decreased tyrosine hydroxylase activity MPheno.ontology MP:0020122 obsoleted because it is a duplicate term obsolete decreased tyrosine 3-monooxygenase activity true MP:0020122 decreased ability to catalyze the reaction: L-tyrosine + tetrahydrobiopterin + O2 = 3,4-dihydroxy-L-phenylalanine + 4-alpha-hydroxytetrahydrobiopterin + H2O http://enzyme.expasy.org/EC/4.1.1.53 https://orcid.org/0000-0001-5208-3432 increased ability to catalyze the reaction: L-tyrosine + tetrahydrobiopterin + O2 = 3,4-dihydroxy-L-phenylalanine + 4-alpha-hydroxytetrahydrobiopterin + H2O MP:0020075 nvasilevsky 2014-04-28T00:00:00Z increased tyrosine hydroxylase activity MPheno.ontology MP:0020123 obsoleted because is is a duplicate term obsolete increased tyrosine 3-monooxygenase activity true MP:0020123 increased ability to catalyze the reaction: L-tyrosine + tetrahydrobiopterin + O2 = 3,4-dihydroxy-L-phenylalanine + 4-alpha-hydroxytetrahydrobiopterin + H2O http://enzyme.expasy.org/EC/4.1.1.53 https://orcid.org/0000-0001-5208-3432 any anomaly in the amount of the complex of high density lipoprotein and phospholipid in the blood, serum, or plasma nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020124 abnormal circulating HDL phospholipid level MP:0020124 any anomaly in the amount of the complex of high density lipoprotein and phospholipid in the blood, serum, or plasma https://orcid.org/0000-0001-5208-3432 increase in the concentration in the blood of HDL phospholipid nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020125 increased circulating HDL phospholipid level MP:0020125 increase in the concentration in the blood of HDL phospholipid https://orcid.org/0000-0001-5208-3432 decrease in the concentration in the blood of HDL phospholipid nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020126 decreased circulating HDL phospholipid level MP:0020126 decrease in the concentration in the blood of HDL phospholipid https://orcid.org/0000-0001-5208-3432 any anomaly of the amount of phospholipid not complexed to high density lipropoteins in the blood, serum, or plasma nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020127 abnormal circulating non-HDL phospholipid level MP:0020127 any anomaly of the amount of phospholipid not complexed to high density lipropoteins in the blood, serum, or plasma https://orcid.org/0000-0001-5208-3432 increase in the concentration in the blood of non-HDL phospholipid nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020128 increased circulating non-HDL phospholipid level MP:0020128 increase in the concentration in the blood of non-HDL phospholipid https://orcid.org/0000-0001-5208-3432 decrease in the concentration in the blood of non-HDL phospholipid nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020129 decreased circulating non-HDL phospholipid level MP:0020129 decrease in the concentration in the blood of non-HDL phospholipid https://orcid.org/0000-0001-5208-3432 anomaly in average total weight of the fat pad compared to controls nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020130 abnormal total fat pad weight MP:0020130 anomaly in average total weight of the fat pad compared to controls https://orcid.org/0000-0001-5208-3432 any anomaly in the amount of space occupied by gallbladder lumen in the body nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020131 abnormal gallbladder volume MP:0020131 any anomaly in the amount of space occupied by gallbladder lumen in the body https://orcid.org/0000-0001-5208-3432 greater than average amount of space occupied by gallbladder in the body nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020132 increased gallbladder volume MP:0020132 greater than average amount of space occupied by gallbladder in the body https://orcid.org/0000-0001-5208-3432 less than average amount of space occupied by gallbladder in the body nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020133 decreased gallbladder volume MP:0020133 less than average amount of space occupied by gallbladder in the body https://orcid.org/0000-0001-5208-3432 an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020134 abnormal gallbladder size MP:0020134 an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile https://orcid.org/0000-0001-5208-3432 anomaly in the depth of the cardiac wall of the heart ventricles nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020135 abnormal heart ventricle wall thickness MP:0020135 anomaly in the depth of the cardiac wall of the heart ventricles https://orcid.org/0000-0001-5208-3432 an anomaly in the thickness of the wall between the two lower chambers of the heart compared to the control nvasilevsky 2014-04-28T00:00:00Z MPheno.ontology MP:0020136 abnormal interventricular septum thickness MP:0020136 an anomaly in the thickness of the wall between the two lower chambers of the heart compared to the control https://orcid.org/0000-0001-5208-3432 decrease in the rate at which minerals are deposited into bone MPheno.ontology MP:0020137 decreased bone mineralization MP:0020137 late onset of the process by which minerals are deposited into bone MPheno.ontology MP:0020138 delayed bone mineralization MP:0020138 late onset of the process by which minerals are deposited into bone https://orcid.org/0000-0003-4606-0597 any structural anomaly of the series of white matter fiber tracts in the brain that run between the most lateral segment of the lentiform nucleus and the claustrum; the white matter of the external capsule contains fibers known as corticocortical association fibers which are responsible for connecting the cerebral cortex to another cortical area; the capsule appears as a thin white sheet of white matter and provides a route for cholinergic fibers from the basal forebrain to the cerebral cortex; it eventually joins the internal capsule around the lentiform nucleus abnormal external capsule of telencephalon MPheno.ontology MP:0020139 abnormal brain external capsule morphology MP:0020139 any structural anomaly of the series of white matter fiber tracts in the brain that run between the most lateral segment of the lentiform nucleus and the claustrum; the white matter of the external capsule contains fibers known as corticocortical association fibers which are responsible for connecting the cerebral cortex to another cortical area; the capsule appears as a thin white sheet of white matter and provides a route for cholinergic fibers from the basal forebrain to the cerebral cortex; it eventually joins the internal capsule around the lentiform nucleus FMA:61959 https://en.wikipedia.org/wiki/External_capsule abnormal external capsule of telencephalon UBERON:0004545 larger than the normal physical proportions of the series of white matter fiber tracts in the brain that run between the most lateral segment of the lentiform nucleus and the claustrum MPheno.ontology MP:0020140 increased brain external capsule size MP:0020140 larger than the normal physical proportions of the series of white matter fiber tracts in the brain that run between the most lateral segment of the lentiform nucleus and the claustrum PMID:24997765 https://orcid.org/0000-0003-4606-0597 smaller than the normal physical proportions of the series of white matter fiber tracts in the brain that run between the most lateral segment of the lentiform nucleus and the claustrum MPheno.ontology MP:0020141 decreased brain external capsule size MP:0020141 smaller than the normal physical proportions of the series of white matter fiber tracts in the brain that run between the most lateral segment of the lentiform nucleus and the claustrum https://orcid.org/0000-0003-4606-0597 elevated level of antibodies to sperm antigens, usually due to compromised Sertoli cell barrier (blood-testis barrier) function; ASAs may be found in the circulation, either free or as immune complexes, in seminal fluid and/or attached to various antigenic sites on the sperm surface (head, midpiece or tail) increased ASA level increased anti sperm antibody level MPheno.ontology MP:0020142 increased anti-sperm antibody level MP:0020142 elevated level of antibodies to sperm antigens, usually due to compromised Sertoli cell barrier (blood-testis barrier) function; ASAs may be found in the circulation, either free or as immune complexes, in seminal fluid and/or attached to various antigenic sites on the sperm surface (head, midpiece or tail) PMID:24803656 an anomaly in the size of the x-zone compared to the average on the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla nvasilevsky 2014-04-29T00:00:00Z abnormal adrenal gland x zone size MPheno.ontology MP:0020143 abnormal adrenal gland x-zone size MP:0020143 an anomaly in the size of the x-zone compared to the average on the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla https://orcid.org/0000-0001-5208-3432 reduced size of the x-zone compared to the average on the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla nvasilevsky 2014-04-29T00:00:00Z decreased adrenal gland x-zone size small adrenal gland x zone MPheno.ontology MP:0020144 small adrenal gland x-zone MP:0020144 reduced size of the x-zone compared to the average on the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla https://orcid.org/0000-0001-5208-3432 increased size of the x-zone compared to the average on the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla nvasilevsky 2014-04-29T00:00:00Z enlarged adrenal gland x zone increased adrenal gland x-zone size MPheno.ontology MP:0020145 enlarged adrenal gland x-zone MP:0020145 increased size of the x-zone compared to the average on the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla https://orcid.org/0000-0001-5208-3432 anomaly in the ability of the cells that line the vasculature to undergo expansion by cell division MPheno.ontology MP:0020146 abnormal vascular endothelial cell proliferation MP:0020146 anomaly in the ability of the cells that line the vasculature to undergo expansion by cell division https://orcid.org/0000-0003-4606-0597 anomaly in the amount of discharge of feces from the body compared to the control nvasilevsky 2014-04-29T00:00:00Z abnormal defaecation amount MPheno.ontology MP:0020147 abnormal defecation amount MP:0020147 anomaly in the amount of discharge of feces from the body compared to the control https://orcid.org/0000-0001-5208-3432 anomaly in the amount of an external agent required to cause death or diseased state nvasilevsky 2014-04-29T00:00:00Z abnormal resistance to induced morbidity/mortality abnormal sensitivity to induced morbidity/mortality abnormal survival following induced morbidity/mortality MPheno.ontology MP:0020148 abnormal susceptibility to induced morbidity/mortality MP:0020148 anomaly in the amount of an external agent required to cause death or diseased state https://orcid.org/0000-0001-5208-3432 anomaly in the sensitivity to doses of ionizing radiation that include ultraviolet light, X-rays, or gamma rays, resulting in death nvasilevsky 2014-04-29T00:00:00Z MPheno.ontology MP:0020149 abnormal mortality induced by ionizing radiation MP:0020149 anomaly in the sensitivity to doses of ionizing radiation that include ultraviolet light, X-rays, or gamma rays, resulting in death https://orcid.org/0000-0001-5208-3432 anomaly in the age of the opening of the genital canal in a female compared to the control nvasilevsky 2014-04-29T00:00:00Z MPheno.ontology MP:0020150 abnormal timing of vaginal opening MP:0020150 anomaly in the age of the opening of the genital canal in a female compared to the control https://orcid.org/0000-0001-5208-3432 any anomaly in the amount in the blood of non-HDL cholesterol nvasilevsky 2014-04-29T00:00:00Z MPheno.ontology MP:0020151 abnormal circulating non-HDL cholesterol level MP:0020151 any anomaly in the amount in the blood of non-HDL cholesterol https://orcid.org/0000-0001-5208-3432 anomaly in the number of germ cells in the female compared to the control nvasilevsky 2014-04-29T00:00:00Z MPheno.ontology MP:0020152 abnormal oocyte number MP:0020152 anomaly in the number of germ cells in the female compared to the control https://orcid.org/0000-0001-5208-3432 anomaly in the amount of albumin in the urine nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020153 abnormal urine albumin level MP:0020153 anomaly in the amount of albumin in the urine https://orcid.org/0000-0001-5208-3432 impaired response of the immune system that mediates secreted antibodies produced in B cells nvasilevsky 2014-04-30T00:00:00Z impaired humoural immune response low humoral immune response low humoural immune response MPheno.ontology MP:0020154 impaired humoral immune response MP:0020154 impaired response of the immune system that mediates secreted antibodies produced in B cells https://orcid.org/0000-0001-5208-3432 impaired humoural immune response https://orcid.org/0000-0002-6490-7723 low humoural immune response https://orcid.org/0000-0002-6490-7723 enhanced response of the immune system that mediates secreted antibodies produced in B cells nvasilevsky 2014-04-30T00:00:00Z enhanced humoural immune response high humoral immune response high humoural immune response MPheno.ontology MP:0020155 enhanced humoral immune response MP:0020155 enhanced response of the immune system that mediates secreted antibodies produced in B cells https://orcid.org/0000-0001-5208-3432 enhanced humoural immune response https://orcid.org/0000-0002-6490-7723 high humoural immune response https://orcid.org/0000-0002-6490-7723 pancreatic acinar cells contain multiple nuclei nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020156 multinucleated pancreatic acinar cells MP:0020156 pancreatic acinar cells contain multiple nuclei https://orcid.org/0000-0001-5208-3432 any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior nvasilevsky 2014-04-30T00:00:00Z abnormal behavioural response to alcohol MPheno.ontology MP:0020157 abnormal behavioral response to alcohol MP:0020157 any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior https://orcid.org/0000-0001-5208-3432 any anomaly in the behavioral response induced by cocaine, such as induced hyperactivity or stereotypic behavior nvasilevsky 2014-04-30T00:00:00Z abnormal behavioural response to cocaine MPheno.ontology MP:0020158 abnormal behavioral response to cocaine MP:0020158 any anomaly in the behavioral response induced by cocaine, such as induced hyperactivity or stereotypic behavior https://orcid.org/0000-0001-5208-3432 any anomaly in the behavioral response induced by morphine, such as induced hyperactivity or stereotypic behavior nvasilevsky 2014-04-30T00:00:00Z abnormal behavioural response to morphine MPheno.ontology MP:0020159 abnormal behavioral response to morphine MP:0020159 any anomaly in the behavioral response induced by morphine, such as induced hyperactivity or stereotypic behavior https://orcid.org/0000-0001-5208-3432 any anomaly in the behavioral response induced by nicotine, such as induced hyperactivity or stereotypic behavior nvasilevsky 2014-04-30T00:00:00Z abnormal behavioural response to nicotine MPheno.ontology MP:0020160 abnormal behavioral response to nicotine MP:0020160 any anomaly in the behavioral response induced by nicotine, such as induced hyperactivity or stereotypic behavior https://orcid.org/0000-0001-5208-3432 increase in the expansion rate of any vascular endothelial cell population by cell division MPheno.ontology MP:0020161 increased vascular endothelial cell proliferation MP:0020161 increase in the expansion rate of any vascular endothelial cell population by cell division https://orcid.org/0000-0003-4606-0597 reduced likelihood that an organism will develop diabetes from a viral infection or from components of or toxins produced by a virus nvasilevsky 2014-04-30T00:00:00Z increased resistance to virus induced diabetes reduced susceptibility to virus induced diabetes MPheno.ontology MP:0020162 decreased susceptibility to virus induced diabetes MP:0020162 reduced likelihood that an organism will develop diabetes from a viral infection or from components of or toxins produced by a virus https://orcid.org/0000-0001-5208-3432 increased likelihood that an organism will develop diabetes from a viral infection or from components of or toxins produced by a virus nvasilevsky 2014-04-30T00:00:00Z decreased resistance to virus induced diabetes MPheno.ontology MP:0020163 increased susceptibility to virus induced diabetes MP:0020163 increased likelihood that an organism will develop diabetes from a viral infection or from components of or toxins produced by a virus https://orcid.org/0000-0001-5208-3432 anomaly in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020164 abnormal quadriceps weight MP:0020164 anomaly in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint https://orcid.org/0000-0001-5208-3432 anomaly in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020165 abnormal soleus weight MP:0020165 anomaly in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot https://orcid.org/0000-0001-5208-3432 anomaly in the weight of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020166 abnormal tibialis anterior weight MP:0020166 anomaly in the weight of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot https://orcid.org/0000-0001-5208-3432 altered ability or desire to jump or rear nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020167 abnormal vertical activity MP:0020167 altered ability or desire to jump or rear https://orcid.org/0000-0001-5208-3432 lower than average weight of the thyroid gland nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020168 decreased thyroid gland weight MP:0020168 lower than average weight of the thyroid gland https://orcid.org/0000-0001-5208-3432 higher than average weight of the thyroid gland nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020169 increased thyroid gland weight MP:0020169 higher than average weight of the thyroid gland https://orcid.org/0000-0001-5208-3432 the presence of clear, sharply defined vacuoles in the thymus epithelium nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020170 vacuolated thymus epithelium MP:0020170 the presence of clear, sharply defined vacuoles in the thymus epithelium https://orcid.org/0000-0001-5208-3432 deviation from the normal levels of immunoglobulin class A level nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020171 abnormal IgA level MP:0020171 deviation from the normal levels of immunoglobulin class A level https://orcid.org/0000-0001-5208-3432 deviation from the normal levels of immunoglobulin class D level nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020172 abnormal IgD level MP:0020172 deviation from the normal levels of immunoglobulin class D level https://orcid.org/0000-0001-5208-3432 deviation from the normal levels of immunoglobulin class E level nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020173 abnormal IgE level MP:0020173 deviation from the normal levels of immunoglobulin class E level https://orcid.org/0000-0001-5208-3432 deviation from the normal levels of immunoglobulin class G level nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020174 abnormal IgG level MP:0020174 deviation from the normal levels of immunoglobulin class G level https://orcid.org/0000-0001-5208-3432 deviation from the normal levels of immunoglobulin class G1 level nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020175 abnormal IgG1 level MP:0020175 deviation from the normal levels of immunoglobulin class G1 level https://orcid.org/0000-0001-5208-3432 deviation from the normal levels of immunoglobulin class G2a level nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020176 abnormal IgG2a level MP:0020176 deviation from the normal levels of immunoglobulin class G2a level https://orcid.org/0000-0001-5208-3432 deviation from the normal levels of immunoglobulin class G2b level nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020177 abnormal IgG2b level MP:0020177 deviation from the normal levels of immunoglobulin class G2b level https://orcid.org/0000-0001-5208-3432 deviation from the normal levels of immunoglobulin class G2c level nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020178 abnormal IgG2c level MP:0020178 deviation from the normal levels of immunoglobulin class G2c level https://orcid.org/0000-0001-5208-3432 deviation from the normal levels of immunoglobulin class G3 level nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020179 abnormal IgG3 level MP:0020179 deviation from the normal levels of immunoglobulin class G3 level https://orcid.org/0000-0001-5208-3432 deviation from the normal levels of immunoglobulin class M level nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020180 abnormal IgM level MP:0020180 deviation from the normal levels of immunoglobulin class M level https://orcid.org/0000-0001-5208-3432 anomaly in the average weight compared to the control MP:0001259 nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020181 Obsoleting because it is a duplicate obsolete abnormal body weight true MP:0020181 anomaly in the average weight compared to the control https://orcid.org/0000-0001-5208-3432 anomaloy in the average of a measure of weight for height compared to the control nvasilevsky 2014-04-30T00:00:00Z MPheno.ontology MP:0020182 abnormal body mass index MP:0020182 anomaloy in the average of a measure of weight for height compared to the control https://orcid.org/0000-0001-5208-3432 a change in the likelihood that an organism will develop ill effects from a fungal infection or from components of or toxins produced by a fungi nvasilevsky 2014-04-30T00:00:00Z altered susceptibility to fungal infection MPheno.ontology MP:0020183 abnormal susceptibility to fungal infection MP:0020183 a change in the likelihood that an organism will develop ill effects from a fungal infection or from components of or toxins produced by a fungi https://orcid.org/0000-0001-5208-3432 a change in the likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by a parasite nvasilevsky 2014-04-30T00:00:00Z altered susceptibility to parasitic infection MPheno.ontology MP:0020184 abnormal susceptibility to parasitic infection MP:0020184 a change in the likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by a parasite https://orcid.org/0000-0001-5208-3432 a change in the likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus nvasilevsky 2014-04-30T00:00:00Z altered susceptibility to viral infection MPheno.ontology MP:0020185 abnormal susceptibility to viral infection MP:0020185 a change in the likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus https://orcid.org/0000-0001-5208-3432 a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria nvasilevsky 2014-04-30T00:00:00Z altered susceptibility to bacterial infection MPheno.ontology MP:0020186 abnormal susceptibility to bacterial infection MP:0020186 a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria https://orcid.org/0000-0001-5208-3432 altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is a major and necessary component nvasilevsky 2014-04-30T00:00:00Z altered susceptibility to prion infection MPheno.ontology MP:0020187 abnormal susceptibility to prion infection MP:0020187 altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is a major and necessary component https://orcid.org/0000-0001-5208-3432 an anomaly in the expected number of tumors with a specific classification type in a given population in a given time period nvasilevsky 2014-05-01T00:00:00Z abnormal classified tumour incidence MPheno.ontology MP:0020188 abnormal classified tumor incidence MP:0020188 an anomaly in the expected number of tumors with a specific classification type in a given population in a given time period https://orcid.org/0000-0001-5208-3432 abnormal classified tumour incidence https://orcid.org/0000-0002-6490-7723 an anomaly in the expected number of a benign epithelial neoplasm with a glandular organization, occurring in a specific population in a given time period; this tumor type usually does not invade or infiltrate surrounding tissue but may remain a benign tumor or progress to malignancy nvasilevsky 2014-05-01T00:00:00Z MPheno.ontology MP:0020189 abnormal adenoma incidence MP:0020189 an anomaly in the expected number of a benign epithelial neoplasm with a glandular organization, occurring in a specific population in a given time period; this tumor type usually does not invade or infiltrate surrounding tissue but may remain a benign tumor or progress to malignancy https://orcid.org/0000-0001-5208-3432 an anomaly in the expected number of a benign epithelial neoplasm with a glandular organization arising in the lung, occurring in a specific population in a given time period nvasilevsky 2014-05-01T00:00:00Z MPheno.ontology MP:0020190 abnormal lung adenoma incidence MP:0020190 an anomaly in the expected number of a benign epithelial neoplasm with a glandular organization arising in the lung, occurring in a specific population in a given time period https://orcid.org/0000-0001-5208-3432 an anomaly in the morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response nvasilevsky 2014-05-01T00:00:00Z MPheno.ontology MP:0020191 abnormal lymphocyte activation involved in immune response MP:0020191 an anomaly in the morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response GO:0002285 https://orcid.org/0000-0001-5208-3432 decreased change in the morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response nvasilevsky 2014-05-01T00:00:00Z MPheno.ontology MP:0020192 decreased lymphocyte activation involved in immune response MP:0020192 decreased change in the morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response GO:0002285 https://orcid.org/0000-0001-5208-3432 Increased change in the morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response nvasilevsky 2014-05-01T00:00:00Z MPheno.ontology MP:0020193 increased lymphocyte activation involved in immune response MP:0020193 Increased change in the morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response GO:0002285 https://orcid.org/0000-0001-5208-3432 any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body nvasilevsky 2014-05-01T00:00:00Z MPheno.ontology MP:0020194 abnormal glycosphingolipid level MP:0020194 any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body http://en.wikipedia.org/wiki/Glycosphingolipid https://orcid.org/0000-0001-5208-3432 increased concentrations of sulfatides, a class of sulfated galactosylceramides, in the body MP:0020006 nvasilevsky 2014-05-01T00:00:00Z MPheno.ontology MP:0020195 obsoleted term because it was a duplicate obsolete increased sulphatide level true MP:0020195 increased concentrations of sulfatides, a class of sulfated galactosylceramides, in the body http://en.wikipedia.org/wiki/Sulfatide https://orcid.org/0000-0001-5208-3432 decreased concentrations of sulfatides, a class of sulfated galactosylceramides, in the body MP:0020005 nvasilevsky 2014-05-01T00:00:00Z MPheno.ontology MP:0020196 obsoleted term because it was a duplicate obsolete decreased sulphatide level true MP:0020196 decreased concentrations of sulfatides, a class of sulfated galactosylceramides, in the body http://en.wikipedia.org/wiki/Sulfatide https://orcid.org/0000-0001-5208-3432 OBSOLETE less than the expected number of neoplams in the reticulum, usually in the form of a distinct mass, in a specific population in a given time period nvasilevsky 2014-05-01T00:00:00Z decreased reticular tumour incidence MPheno.ontology MP:0020197 obsolete decreased reticular tumor incidence true MP:0020197 OBSOLETE less than the expected number of neoplams in the reticulum, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0001-5208-3432 decreased reticular tumour incidence https://orcid.org/0000-0002-6490-7723 less than the expected number of neoplams in mononuclear phagocyte cells, in a specific population in a given time period nvasilevsky 2014-05-01T00:00:00Z decreased mononuclear phagocyte tumour incidence decreased reticuloendothelial tumour incidence MPheno.ontology MP:0020198 decreased mononuclear phagocyte tumor incidence MP:0020198 less than the expected number of neoplams in mononuclear phagocyte cells, in a specific population in a given time period https://orcid.org/0000-0001-5208-3432 OBSOLETE greater than the expected number of neoplams in the reticulum, usually in the form of a distinct mass, in a specific population in a given time period nvasilevsky 2014-05-01T00:00:00Z increased reticular tumour incidence MPheno.ontology MP:0020199 obsolete increased reticular tumor incidence true MP:0020199 OBSOLETE greater than the expected number of neoplams in the reticulum, usually in the form of a distinct mass, in a specific population in a given time period https://orcid.org/0000-0001-5208-3432 more than the expected number of neoplams in mononuclear phagocyte cells, in a specific population in a given time period nvasilevsky 2014-05-01T00:00:00Z increased mononuclear phagocyte tumour incidence increased reticuloendothelial tumour incidence MPheno.ontology MP:0020200 increased mononuclear phagocyte tumor incidence MP:0020200 more than the expected number of neoplams in mononuclear phagocyte cells, in a specific population in a given time period https://orcid.org/0000-0001-5208-3432 an anomaly in the number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils MPheno.ontology MP:0020201 abnormal granulocyte number MP:0020201 an anomaly in the number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils https://orcid.org/0000-0001-5208-3432 an anomaly in the number of macrophages nvasilevsky 2014-05-15T00:00:00Z MPheno.ontology MP:0020202 abnormal macrophage cell number MP:0020202 an anomaly in the number of macrophages https://orcid.org/0000-0001-5208-3432 an anomaly in the number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation nvasilevsky 2014-05-15T00:00:00Z MPheno.ontology MP:0020203 abnormal mast cell number MP:0020203 an anomaly in the number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation https://orcid.org/0000-0001-5208-3432 anomaly in the average weight of the left ventricle compared to the control MPheno.ontology MP:0020204 abnormal heart left ventricle weight MP:0020204 anomaly in the average weight of the left ventricle compared to the control https://orcid.org/0000-0001-5208-3432 anomaly in the average weight of the right ventricle compared to the control nvasilevsky 2014-05-15T00:00:00Z MPheno.ontology MP:0020205 abnormal heart right ventricle weight MP:0020205 anomaly in the average weight of the right ventricle compared to the control https://orcid.org/0000-0001-5208-3432 anomaly in the average weight of the heart left atrium compared to the control nvasilevsky 2014-05-15T00:00:00Z MPheno.ontology MP:0020206 abnormal heart left atrium weight MP:0020206 anomaly in the average weight of the heart left atrium compared to the control https://orcid.org/0000-0001-5208-3432 anomaly in the average weight of the heart right atrium compared to the control nvasilevsky 2014-05-15T00:00:00Z MPheno.ontology MP:0020207 abnormal heart right atrium weight MP:0020207 anomaly in the average weight of the heart right atrium compared to the control https://orcid.org/0000-0001-5208-3432 abnormal height of the ridge between the shoulder blades of a four-legged mammal nvasilevsky MPheno.ontology MP:0020208 abnormal withers MP:0020208 abnormal height of the ridge between the shoulder blades of a four-legged mammal http://en.wikipedia.org/wiki/Withers https://orcid.org/0000-0001-5208-3432 low height of the ridge between the shoulder blades of a four-legged mammal nvasilevsky MPheno.ontology MP:0020209 low withers MP:0020209 low height of the ridge between the shoulder blades of a four-legged mammal http://en.wikipedia.org/wiki/Withers https://orcid.org/0000-0001-5208-3432 high height of the ridge between the shoulder blades of a four-legged mammal nvasilevsky MPheno.ontology MP:0020210 high withers MP:0020210 high height of the ridge between the shoulder blades of a four-legged mammal http://en.wikipedia.org/wiki/Withers https://orcid.org/0000-0001-5208-3432 decreased rate or speed of the coordinated movements executed with a purpose nvasilevsky MPheno.ontology MP:0020211 slow movement MP:0020211 decreased rate or speed of the coordinated movements executed with a purpose https://orcid.org/0000-0001-5208-3432 impaired ability of blood leukocytes to move within or between different tissues and organs of the body by binding to high endothelial venules (HEV), then tethering and rolling along the luminal aspects of HEV nvasilevsky impaired leucocyte migration MPheno.ontology MP:0020212 impaired leukocyte migration MP:0020212 impaired ability of blood leukocytes to move within or between different tissues and organs of the body by binding to high endothelial venules (HEV), then tethering and rolling along the luminal aspects of HEV https://orcid.org/0000-0001-5208-3432 impaired leucocyte migration https://orcid.org/0000-0002-6490-7723 enhanced ability of blood leukocytes to move within or between different tissues and organs of the body by binding to high endothelial venules (HEV), then tethering and rolling along the luminal aspects of HEV nvasilevsky enhanced leucocyte migration MPheno.ontology MP:0020213 enhanced leukocyte migration MP:0020213 enhanced ability of blood leukocytes to move within or between different tissues and organs of the body by binding to high endothelial venules (HEV), then tethering and rolling along the luminal aspects of HEV https://orcid.org/0000-0001-5208-3432 enhanced leucocyte migration https://orcid.org/0000-0002-6490-7723 increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine nvasilevsky susceptible to malignant hyperpyrexia susceptible to malignant hyperthermia susceptibility susceptible to malignant hyperthermia syndrome MPheno.ontology MP:0020214 increased susceptibility to malignant hyperthermia MP:0020214 increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine http://en.wikipedia.org/wiki/Malignant_hyperthermia https://orcid.org/0000-0001-5208-3432 impaired ability of the blood to clot nvasilevsky MPheno.ontology MP:0020215 impaired blood coagulation MP:0020215 impaired ability of the blood to clot https://orcid.org/0000-0001-5208-3432 less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes nvasilevsky MPheno.ontology MP:0020216 decreased circulating complement protein level MP:0020216 less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes https://orcid.org/0000-0001-5208-3432 more than the normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes nvasilevsky MPheno.ontology MP:0020217 increased circulating complement protein level MP:0020217 more than the normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes https://orcid.org/0000-0001-5208-3432 an anomaly in the amount of fluid produced in the eye nvasilevsky abnormal lachrymation abnormal lacrimation abnormal tear secretion lachrymation abnormality lacrimation abnormality MPheno.ontology MP:0020218 abnormal tear production MP:0020218 an anomaly in the amount of fluid produced in the eye https://orcid.org/0000-0001-5208-3432 increased production of the amount of fluid produced in the eye hyperlachrymation hyperlacrimation increased lachrymation increased lacrimation increased tear secretion MPheno.ontology MP:0020219 increased tear production MP:0020219 increased production of the amount of fluid produced in the eye https://orcid.org/0000-0001-5208-3432 decreased production of the amount of fluid produced in the eye nvasilevsky decreased lachrymation decreased lacrimation decreased tear secretion hypolachrymation hypolacrimation reduced lachrymation reduced lacrimation reduced tear production reduced tear secretion MPheno.ontology MP:0020220 decreased tear production MP:0020220 decreased production of the amount of fluid produced in the eye https://orcid.org/0000-0001-5208-3432 lack of color in the body of fat on the foot nvasilevsky blanched foot pads blanched pads decreased pigmentation in foot pads MPheno.ontology MP:0020221 reduced foot pad pigmentation MP:0020221 lack of color in the body of fat on the foot https://orcid.org/0000-0001-5208-3432 anomaly in the level of awareness or attentiveness nvasilevsky MPheno.ontology MP:0020222 abnormal alertness MP:0020222 anomaly in the level of awareness or attentiveness https://orcid.org/0000-0001-5208-3432 increased or heightened awareness or attentiveness nvasilevsky MPheno.ontology MP:0020223 increased alertness MP:0020223 increased or heightened awareness or attentiveness https://orcid.org/0000-0001-5208-3432 decreased level of awareness or attentiveness nvasilevsky MPheno.ontology MP:0020224 decreased alertness MP:0020224 decreased level of awareness or attentiveness https://orcid.org/0000-0001-5208-3432 morphological changes resulting from pathological death of some or all bone tissue; usually due to irreversible damage necrotic bone necrotic bones MPheno.ontology MP:0020225 bone necrosis MP:0020225 morphological changes resulting from pathological death of some or all bone tissue; usually due to irreversible damage https://orcid.org/0000-0001-5208-3432 fewer than the expected number of benign tumors characterized by blood-filled spaces lined by benign endothelial cells, occurring in a specific population in a given time period; a cavernous hemangioma is characterized by large endothelial spaces (caverns), and a capillary hemangioma is characterized by small endothelial spaces decreased haemangioma incidence MPheno.ontology MP:0020226 decreased hemangioma incidence MP:0020226 fewer than the expected number of benign tumors characterized by blood-filled spaces lined by benign endothelial cells, occurring in a specific population in a given time period; a cavernous hemangioma is characterized by large endothelial spaces (caverns), and a capillary hemangioma is characterized by small endothelial spaces https://orcid.org/0000-0001-5208-3432 HP:0001028 altered ability of proline oxidase to catalyze the reaction: L-proline + O2 + H2O = L-delta1-pyrroline-5-carboxylate + H2O2 abnormal proline dehydrogenase activity MPheno.ontology MP:0020227 abnormal proline oxidase activity MP:0020227 altered ability of proline oxidase to catalyze the reaction: L-proline + O2 + H2O = L-delta1-pyrroline-5-carboxylate + H2O2 https://orcid.org/0000-0001-5208-3432 http://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=5625 decreased ability of proline oxidase to catalyze the reaction: L-proline + O2 + H2O = L-delta1-pyrroline-5-carboxylate + H2O2 decreased proline dehydrogenase activity MPheno.ontology MP:0020228 decreased proline oxidase activity MP:0020228 decreased ability of proline oxidase to catalyze the reaction: L-proline + O2 + H2O = L-delta1-pyrroline-5-carboxylate + H2O2 http://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=5625 https://orcid.org/0000-0001-5208-3432 increased ability of proline oxidase to catalyze the reaction: L-proline + O2 + H2O = L-delta1-pyrroline-5-carboxylate + H2O2 increased proline dehydrogenase activity MPheno.ontology MP:0020229 increased proline oxidase activity MP:0020229 increased ability of proline oxidase to catalyze the reaction: L-proline + O2 + H2O = L-delta1-pyrroline-5-carboxylate + H2O2 https://orcid.org/0000-0001-5208-3432 http://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=5625 a retrogressive impairment of function or destruction of the adipose tissue layer beneath the skin hypodermal fat layer degeneration panniculus adiposus degeneration subcutaneous fat layer degeneration MPheno.ontology MP:0020230 subcutaneous adipose tissue degeneration MP:0020230 a retrogressive impairment of function or destruction of the adipose tissue layer beneath the skin https://orcid.org/0000-0001-5208-3432 anomaly in the level of the enzyme present in the liver that catalyzes the conversion of tyrosine to 4-hydroxyphenylpyruvate MPheno.ontology MP:0020231 abnormal tyrosine aminotransferase level MP:0020231 anomaly in the level of the enzyme present in the liver that catalyzes the conversion of tyrosine to 4-hydroxyphenylpyruvate https://orcid.org/0000-0001-5208-3432 PMID:1349265 increased level of the enzyme present in the liver that catalyzes the conversion of tyrosine to 4-hydroxyphenylpyruvate MPheno.ontology MP:0020232 increased tyrosine aminotransferase level MP:0020232 increased level of the enzyme present in the liver that catalyzes the conversion of tyrosine to 4-hydroxyphenylpyruvate https://orcid.org/0000-0001-5208-3432 PMID:1349265 decreased level of the enzyme present in the liver that catalyzes the conversion of tyrosine to 4-hydroxyphenylpyruvate MPheno.ontology MP:0020233 decreased tyrosine aminotransferase level MP:0020233 decreased level of the enzyme present in the liver that catalyzes the conversion of tyrosine to 4-hydroxyphenylpyruvate https://orcid.org/0000-0001-5208-3432 PMID:1349265 decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state MPheno.ontology MP:0020234 decreased basal metabolism MP:0020234 decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state https://orcid.org/0000-0001-5208-3432 the appearance of a stripe of black fur around the circumference of the abdomen MPheno.ontology MP:0020235 black belted MP:0020235 the appearance of a stripe of black fur around the circumference of the abdomen https://orcid.org/0000-0001-5208-3432 abnormal concentration of proline and/or its metabolic derivatives, derived from the amino acid L-glutamate MPheno.ontology MP:0020236 abnormal proline level MP:0020236 abnormal concentration of proline and/or its metabolic derivatives, derived from the amino acid L-glutamate https://orcid.org/0000-0001-5208-3432 ISBN10:1572591536 higher than normal concentration of proline and its metabolic derivatives, derived from the amino acid L-glutamate MPheno.ontology MP:0020237 increased proline level MP:0020237 higher than normal concentration of proline and its metabolic derivatives, derived from the amino acid L-glutamate https://orcid.org/0000-0001-5208-3432 ISBN10:1572591536 lower than normal concentration of proline and its metabolic derivatives, derived from the amino acid L-glutamate reduced proline level MPheno.ontology MP:0020238 decreased proline level MP:0020238 lower than normal concentration of proline and its metabolic derivatives, derived from the amino acid L-glutamate https://orcid.org/0000-0001-5208-3432 ISBN10:1572591536 change in the timing or the number of skeletal muscle cells undergoing programmed cell death MPheno.ontology MP:0020239 abnormal skeletal muscle cell apoptosis MP:0020239 change in the timing or the number of skeletal muscle cells undergoing programmed cell death https://orcid.org/0000-0001-5208-3432 increase in the number of skeletal muscle cells undergoing programmed cell death MPheno.ontology MP:0020240 increased skeletal muscle cell apoptosis MP:0020240 increase in the number of skeletal muscle cells undergoing programmed cell death https://orcid.org/0000-0001-5208-3432 decrease in the number of skeletal muscle cells undergoing programmed cell death MPheno.ontology MP:0020241 decreased skeletal muscle cell apoptosis MP:0020241 decrease in the number of skeletal muscle cells undergoing programmed cell death https://orcid.org/0000-0001-5208-3432 larger than average size of the autopod enlarged paws increased paw size MPheno.ontology MP:0020242 increased autopod size MP:0020242 larger than average size of the autopod https://orcid.org/0000-0001-5208-3432 anomaly in the ability to transfer of a phosphate group from phosphoenolpyruvate to ADP, yielding one molecule of pyruvate and one molecule of ATP abnormal ATP:pyruvate 2-O-phosphotransferase activity abnormal phosphoenol transphosphorylase activity abnormal phosphoenolpyruvate kinase activity MPheno.ontology MP:0020243 abnormal pyruvate kinase activity MP:0020243 anomaly in the ability to transfer of a phosphate group from phosphoenolpyruvate to ADP, yielding one molecule of pyruvate and one molecule of ATP PMID:22182754 https://orcid.org/0000-0001-5208-3432 increased ability to transfer of a phosphate group from phosphoenolpyruvate to ADP, yielding one molecule of pyruvate and one molecule of ATP increased ATP:pyruvate 2-O-phosphotransferase activity increased phosphoenol transphosphorylase activity increased phosphoenolpyruvate kinase activity MPheno.ontology MP:0020244 increased pyruvate kinase activity MP:0020244 increased ability to transfer of a phosphate group from phosphoenolpyruvate to ADP, yielding one molecule of pyruvate and one molecule of ATP PMID:22182754 https://orcid.org/0000-0001-5208-3432 reduced ability to the transfer of a phosphate group from phosphoenolpyruvate to ADP, yielding one molecule of pyruvate and one molecule of ATP decreased ATP:pyruvate 2-O-phosphotransferase activity decreased phosphoenol transphosphorylase activity decreased phosphoenolpyruvate kinase activity MPheno.ontology MP:0020245 decreased pyruvate kinase activity MP:0020245 reduced ability to the transfer of a phosphate group from phosphoenolpyruvate to ADP, yielding one molecule of pyruvate and one molecule of ATP PMID:22182754 https://orcid.org/0000-0001-5208-3432 aberrant concentration in the blood of the enzyme that catalyzes the conversion of arginine + H2O to ornithine + urea abnormal L-arginase activity abnormal L-arginine amidinohydrolase activity abnormal arginine amidinase activity abnormal arginine transamidinase activity abnormal canavanase activity MPheno.ontology MP:0020246 abnormal circulating arginase level MP:0020246 aberrant concentration in the blood of the enzyme that catalyzes the conversion of arginine + H2O to ornithine + urea PMID:9806879 https://orcid.org/0000-0001-5208-3432 increased concentration in the blood of the enzyme that catalyzes the conversion of arginine + H2O to ornithine + urea increased L-arginase activity increased L-arginine amidinohydrolase activity increased arginine amidinase activity increased arginine transamidinase activity increased canavanase activity MPheno.ontology MP:0020247 increased circulating arginase level MP:0020247 increased concentration in the blood of the enzyme that catalyzes the conversion of arginine + H2O to ornithine + urea PMID:9806879 https://orcid.org/0000-0001-5208-3432 decreased concentration in the blood of the enzyme that catalyzes the conversion of arginine + H2O to ornithine + urea decreased L-arginase activity decreased L-arginine amidinohydrolase activity decreased arginine amidinase activity decreased arginine transamidinase activity decreased canavanase activity MPheno.ontology MP:0020248 decreased circulating arginase level MP:0020248 decreased concentration in the blood of the enzyme that catalyzes the conversion of arginine + H2O to ornithine + urea PMID:9806879 https://orcid.org/0000-0001-5208-3432 aberrant concentration of the enzyme that catalyzes the synthesis of argininosuccinate from citrulline and aspartate. abnormal L-citrulline:L-aspartate ligase (AMP-forming) abnormal arginine succinate synthetase activity abnormal argininosuccinate synthetase activity abnormal argininosuccinic acid synthetase activity abnormal arginosuccinate synthetase activity abnormal citrulline--aspartate ligase activity MPheno.ontology MP:0020249 abnormal argininosuccinate synthetase level MP:0020249 aberrant concentration of the enzyme that catalyzes the synthesis of argininosuccinate from citrulline and aspartate. PMID:18323623 https://orcid.org/0000-0001-5208-3432 increased concentration of the enzyme that catalyzes the synthesis of argininosuccinate from citrulline and aspartate. increased L-citrulline:L-aspartate ligase (AMP-forming) increased arginine succinate synthetase activity increased argininosuccinate synthetase activity increased argininosuccinic acid synthetase activity increased arginosuccinate synthetase activity increased citrulline--aspartate ligase activity MPheno.ontology MP:0020250 increased argininosuccinate synthetase level MP:0020250 increased concentration of the enzyme that catalyzes the synthesis of argininosuccinate from citrulline and aspartate. PMID:18323623 https://orcid.org/0000-0001-5208-3432 decreased concentration of the enzyme that catalyzes the synthesis of argininosuccinate from citrulline and aspartate. decreased L-citrulline:L-aspartate ligase (AMP-forming) decreased arginine succinate synthetase activity decreased argininosuccinate synthetase activity decreased argininosuccinic acid synthetase activity decreased arginosuccinate synthetase activity decreased citrulline--aspartate ligase activity MPheno.ontology MP:0020251 decreased argininosuccinate synthetase level MP:0020251 decreased concentration of the enzyme that catalyzes the synthesis of argininosuccinate from citrulline and aspartate. PMID:18323623 https://orcid.org/0000-0001-5208-3432 abnormal level of the main structural protein of the various connective tissues in animals MPheno.ontology MP:0020252 abnormal collagen level MP:0020252 abnormal level of the main structural protein of the various connective tissues in animals PMID:11704682 https://orcid.org/0000-0001-5208-3432 increased level of the main structural protein of the various connective tissues in animals MPheno.ontology MP:0020253 increased collagen level MP:0020253 increased level of the main structural protein of the various connective tissues in animals PMID:11704682 https://orcid.org/0000-0001-5208-3432 decreased level of the main structural protein of the various connective tissues in animals MPheno.ontology MP:0020254 decreased collagen level MP:0020254 decreased level of the main structural protein of the various connective tissues in animals PMID:11704682 https://orcid.org/0000-0001-5208-3432 undetectable levels in the blood of the enzyme that is part of the coagulation cascade and activates factor XI and prekallikrein in vitro MPheno.ontology MP:0020255 absent circulating factor XII protein MP:0020255 undetectable levels in the blood of the enzyme that is part of the coagulation cascade and activates factor XI and prekallikrein in vitro PMID:22993391 https://orcid.org/0000-0001-5208-3432 aberrant concentration in the blood of the enzyme that is part of the coagulation cascade and activates factor XI and prekallikrein in vitro MPheno.ontology MP:0020256 abnormal circulating factor XII level MP:0020256 aberrant concentration in the blood of the enzyme that is part of the coagulation cascade and activates factor XI and prekallikrein in vitro PMID:22993391 https://orcid.org/0000-0001-5208-3432 increased concentration in the blood of the enzyme that is part of the coagulation cascade and activates factor XI and prekallikrein in vitro elevated circulating factor XII level MPheno.ontology MP:0020257 increased circulating factor XII level MP:0020257 increased concentration in the blood of the enzyme that is part of the coagulation cascade and activates factor XI and prekallikrein in vitro PMID:22993391 https://orcid.org/0000-0001-5208-3432 decreased concentration in the blood of the enzyme that is part of the coagulation cascade and activates factor XI and prekallikrein in vitro reduced circulating factor XII level MPheno.ontology MP:0020258 decreased circulating factor XII level MP:0020258 decreased concentration in the blood of the enzyme that is part of the coagulation cascade and activates factor XI and prekallikrein in vitro PMID:22993391 https://orcid.org/0000-0001-5208-3432 abnormal level of the hydrolase enzyme that catalyzes the hydrolysis of beta-galactosides into monosaccharides abnormal S 2107 abnormal beta-D-galactanase level abnormal beta-D-galactoside galactohydrolase level abnormal beta-D-lactosidase level abnormal beta-gal level abnormal beta-lactosidase level abnormal exo-(1->4)-beta-D-galactanase level abnormal hydrolact level abnormal lactose hydrolysis level abnormal lactozym level abnormal maxilact level abnormal oryzatym level abnormal sumiklat level abnormal trilactase activity MPheno.ontology MP:0020259 abnormal beta-galactosidase level MP:0020259 abnormal level of the hydrolase enzyme that catalyzes the hydrolysis of beta-galactosides into monosaccharides PMID:7568133 https://orcid.org/0000-0001-5208-3432 undetectable levels of the hydrolase enzyme that catalyzes the hydrolysis of beta-galactosides into monosaccharides absent S 2107 protein absent beta-D-galactanase protein absent beta-D-galactoside galactohydrolase protein absent beta-D-lactosidase protein absent beta-gal protein absent beta-lactosidase protein absent exo-(1->4)-beta-D-galactanase protein absent hydrolact protein absent lactose hydrolysis protein absent lactozym protein absent maxilact protein absent oryzatym protein absent sumiklat protein absent trilactase protein MPheno.ontology MP:0020260 absent beta-galactosidase protein MP:0020260 undetectable levels of the hydrolase enzyme that catalyzes the hydrolysis of beta-galactosides into monosaccharides PMID:7568133 https://orcid.org/0000-0001-5208-3432 increased level of the hydrolase enzyme that catalyzes the hydrolysis of beta-galactosides into monosaccharides increased S 2107 level increased beta-D-galactanase level increased beta-D-galactoside galactohydrolase level increased beta-D-lactosidase level increased beta-gal level increased beta-lactosidase level increased exo-(1->4)-beta-D-galactanase level increased hydrolact level increased lactose hydrolysis level increased lactozym level increased maxilact level increased oryzatym level increased sumiklat level increased trilactase level MPheno.ontology MP:0020261 increased beta-galactosidase level MP:0020261 increased level of the hydrolase enzyme that catalyzes the hydrolysis of beta-galactosides into monosaccharides PMID:7568133 https://orcid.org/0000-0001-5208-3432 decreased level of the hydrolase enzyme that catalyzes the hydrolysis of beta-galactosides into monosaccharides decreased S 2107 level decreased beta-D-galactanase level decreased beta-D-galactoside galactohydrolase level decreased beta-D-lactosidase level decreased beta-gal level decreased beta-lactosidase level decreased exo-(1->4)-beta-D-galactanase level decreased hydrolact level decreased lactose hydrolysis level decreased lactozym level decreased maxilact level decreased oryzatym level decreased sumiklat level decreased trilactase level MPheno.ontology MP:0020262 decreased beta-galactosidase level MP:0020262 decreased level of the hydrolase enzyme that catalyzes the hydrolysis of beta-galactosides into monosaccharides PMID:7568133 https://orcid.org/0000-0001-5208-3432 abnormal level of the enzyme that removes galactose from ceramide derivatives (galactocerebrosides) abnormal D-galactosyl-N-acylsphingosine galactohydrolase level abnormal beta-galactocerebrosidase level abnormal beta-galactosylceramidase level abnormal ceramide galactosidase level abnormal cerebroside beta-galactosidase level abnormal cerebroside galactosidase level abnormal galactocerebrosidase level abnormal galactocerebroside beta-galactosidase level abnormal galactocerebroside galactosidase level abnormal galactocerebroside-beta-D-galactosidase level abnormal galactosylceramidase I level abnormal galactosylceramide beta-galactosidase level abnormal galactosylcerebrosidase level abnormal galcerase level abnormal lactosylceramidase I level abnormal lactosylceramidase level MPheno.ontology MP:0020263 abnormal galactosylceramidase level MP:0020263 abnormal level of the enzyme that removes galactose from ceramide derivatives (galactocerebrosides) PMID:20410102 https://orcid.org/0000-0001-5208-3432 increased level of the enzyme that removes galactose from ceramide derivatives (galactocerebrosides). increased D-galactosyl-N-acylsphingosine galactohydrolase level increased beta-galactocerebrosidase level increased beta-galactosylceramidase level increased ceramide galactosidase level increased cerebroside beta-galactosidase level increased cerebroside galactosidase level increased galactocerebrosidase level increased galactocerebroside beta-galactosidase level increased galactocerebroside galactosidase level increased galactocerebroside-beta-D-galactosidase level increased galactosylceramidase I level increased galactosylceramide beta-galactosidase level increased galactosylcerebrosidase level increased galcerase level increased lactosylceramidase I level increased lactosylceramidase level MPheno.ontology MP:0020264 increased galactosylceramidase level MP:0020264 increased level of the enzyme that removes galactose from ceramide derivatives (galactocerebrosides). PMID:20410102 https://orcid.org/0000-0001-5208-3432 decreased level of the enzyme that removes galactose from ceramide derivatives (galactocerebrosides). decreased D-galactosyl-N-acylsphingosine galactohydrolase level decreased beta-galactocerebrosidase level decreased beta-galactosylceramidase level decreased ceramide galactosidase level decreased cerebroside beta-galactosidase level decreased cerebroside galactosidase level decreased galactocerebrosidase level decreased galactocerebroside beta-galactosidase level decreased galactocerebroside galactosidase level decreased galactocerebroside-beta-D-galactosidase level decreased galactosylceramidase I level decreased galactosylceramide beta-galactosidase level decreased galactosylcerebrosidase level decreased galcerase level decreased lactosylceramidase I level decreased lactosylceramidase level MPheno.ontology MP:0020265 decreased galactosylceramidase level MP:0020265 decreased level of the enzyme that removes galactose from ceramide derivatives (galactocerebrosides). PMID:20410102 https://orcid.org/0000-0001-5208-3432 undetectable level of the enzyme that removes galactose from ceramide derivatives (galactocerebrosides). absent D-galactosyl-N-acylsphingosine galactohydrolase protein absent beta-galactocerebrosidase protein absent beta-galactosylceramidase protein absent ceramide galactosidase protein absent cerebroside beta-galactosidase protein absent cerebroside galactosidase protein absent galactocerebrosidase protein absent galactocerebroside beta-galactosidase protein absent galactocerebroside galactosidase protein absent galactocerebroside-beta-D-galactosidase protein absent galactosylceramidase I protein absent galactosylceramide beta-galactosidase protein absent galactosylcerebrosidase protein absent galcerase protein absent lactosylceramidase I protein absent lactosylceramidase protein MPheno.ontology MP:0020266 absent galactosylceramidase MP:0020266 undetectable level of the enzyme that removes galactose from ceramide derivatives (galactocerebrosides). PMID:20410102 https://orcid.org/0000-0001-5208-3432 abnormal level of the enzyme that catalyses the reaction: hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides abnormal beta-D-mannosidase level abnormal beta-D-mannoside mannohydrolase level abnormal beta-mannoside mannohydrolase level abnormal exo-beta-D-mannanase level abnormal mannanase level abnormal mannase level MPheno.ontology MP:0020267 abnormal beta-mannosidase level MP:0020267 abnormal level of the enzyme that catalyses the reaction: hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides PMID:7876128 https://orcid.org/0000-0001-5208-3432 increased level of the enzyme that catalyses the reaction: hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides increased beta-D-mannosidase level increased beta-D-mannoside mannohydrolase level increased beta-mannoside mannohydrolase level increased exo-beta-D-mannanase level increased mannanase level increased mannase level MPheno.ontology MP:0020268 increased beta-mannosidase level MP:0020268 increased level of the enzyme that catalyses the reaction: hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides PMID:7876128 https://orcid.org/0000-0001-5208-3432 decreased level of the enzyme that catalyses the reaction: hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides decreased beta-D-mannosidase level decreased beta-D-mannoside mannohydrolase level decreased beta-mannoside mannohydrolase level decreased exo-beta-D-mannanase level decreased mannanase level decreased mannase level MPheno.ontology MP:0020269 decreased beta-mannosidase level MP:0020269 decreased level of the enzyme that catalyses the reaction: hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides PMID:7876128 https://orcid.org/0000-0001-5208-3432 abnormal level of the enzyme that catalyzes the oxidative decarboxylation of branched, short-chain alpha-ketoacids abnormal 3-methyl-2-oxobutanoate dehydrogenase (lipoamide) complex level abnormal BCADH level abnormal BCKADH level abnormal branched-chain alpha-ketoacid dehydrogenase complex level MPheno.ontology MP:0020270 abnormal branched-chain alpha-keto acid dehydrogenase level MP:0020270 abnormal level of the enzyme that catalyzes the oxidative decarboxylation of branched, short-chain alpha-ketoacids PMID:3597778 https://orcid.org/0000-0001-5208-3432 increased level of the enzyme that catalyzes the oxidative decarboxylation of branched, short-chain alpha-ketoacids increased 3-methyl-2-oxobutanoate dehydrogenase (lipoamide) complex level increased BCADH level increased BCKADH level increased branched-chain alpha-ketoacid dehydrogenase complex level MPheno.ontology MP:0020271 increased branched-chain alpha-keto acid dehydrogenase level MP:0020271 increased level of the enzyme that catalyzes the oxidative decarboxylation of branched, short-chain alpha-ketoacids PMID:3597778 https://orcid.org/0000-0001-5208-3432 decreased level of the enzyme that catalyzes the oxidative decarboxylation of branched, short-chain alpha-ketoacids decreased 3-methyl-2-oxobutanoate dehydrogenase (lipoamide) complex level decreased BCADH level decreased BCKADH level decreased branched-chain alpha-ketoacid dehydrogenase complex level MPheno.ontology MP:0020272 decreased branched-chain alpha-keto acid dehydrogenase level MP:0020272 decreased level of the enzyme that catalyzes the oxidative decarboxylation of branched, short-chain alpha-ketoacids PMID:3597778 https://orcid.org/0000-0001-5208-3432 abnormal level of the enzyme that catalyzes the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate abnormal N-acetyl-D-galactosamine-4-sulfate 4-sulfohydrolase level abnormal N-acetylgalactosamine 4-sulfate sulfohydrolase level abnormal N-acetylgalactosamine-4-sulphatase level abnormal acetylgalactosamine 4-sulfatase level abnormal arylsulfatase B level abnormal chondroitinsulfatase level MPheno.ontology MP:0020273 abnormal N-acetylgalactosamine-4-sulfatase level MP:0020273 abnormal level of the enzyme that catalyzes the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate GO:0003943 https://orcid.org/0000-0001-5208-3432 increased level of the enzyme that catalyzes the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate increased N-acetyl-D-galactosamine-4-sulfate 4-sulfohydrolase level increased N-acetylgalactosamine 4-sulfate sulfohydrolase level increased N-acetylgalactosamine-4-sulphatase level increased acetylgalactosamine 4-sulfatase level increased arylsulfatase B level increased chondroitinsulfatase level MPheno.ontology MP:0020274 increased N-acetylgalactosamine-4-sulfatase protein level MP:0020274 increased level of the enzyme that catalyzes the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate GO:0003943 https://orcid.org/0000-0001-5208-3432 decreased level of the enzyme that catalyzes the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate decreased N-acetyl-D-galactosamine-4-sulfate 4-sulfohydrolase level decreased N-acetylgalactosamine 4-sulfate sulfohydrolase level decreased N-acetylgalactosamine-4-sulphatase level decreased acetylgalactosamine 4-sulfatase level decreased arylsulfatase B level decreased chondroitinsulfatase level MPheno.ontology MP:0020275 decreased N-acetylgalactosamine-4-sulfatase protein level MP:0020275 decreased level of the enzyme that catalyzes the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate GO:0003943 https://orcid.org/0000-0001-5208-3432 abnormal level of the enzyme that helps facilitate the breakdown of glycogen by mobilize glucose reserves from glycogen deposits in the muscles and liver MPheno.ontology MP:0020276 abnormal glycogen debranching enzyme level MP:0020276 abnormal level of the enzyme that helps facilitate the breakdown of glycogen by mobilize glucose reserves from glycogen deposits in the muscles and liver PMID:6078537 https://orcid.org/0000-0001-5208-3432 increased level of the enzyme that helps facilitate the breakdown of glycogen by mobilize glucose reserves from glycogen deposits in the muscles and liver MPheno.ontology MP:0020277 increased glycogen debranching enzyme level MP:0020277 increased level of the enzyme that helps facilitate the breakdown of glycogen by mobilize glucose reserves from glycogen deposits in the muscles and liver PMID:6078537 https://orcid.org/0000-0001-5208-3432 decreased level of the enzyme that helps facilitate the breakdown of glycogen by mobilize glucose reserves from glycogen deposits in the muscles and liver MPheno.ontology MP:0020278 decreased glycogen debranching enzyme level MP:0020278 decreased level of the enzyme that helps facilitate the breakdown of glycogen by mobilize glucose reserves from glycogen deposits in the muscles and liver PMID:6078537 https://orcid.org/0000-0001-5208-3432 abnormal level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine abnormal ATP:creatine N-phosphotransferase level abnormal ATP:creatine phosphotransferase level abnormal BB-CK level abnormal CK level abnormal CK-BB level abnormal CK-MB level abnormal CK-MM level abnormal CKMiMi level abnormal MB-CK level abnormal MM-CK level abnormal Mi-CK level abnormal MiMi-CK level abnormal adenosine triphosphate-creatine transphosphorylase level abnormal creatine phosphokinase level abnormal creatine phosphotransferase level abnormal phosphocreatine kinase level MPheno.ontology MP:0020279 abnormal creatine kinase level MP:0020279 abnormal level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine MP:0010089 https://orcid.org/0000-0001-5208-3432 increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine increased ATP:creatine N-phosphotransferase level increased ATP:creatine phosphotransferase level increased BB-CK increased CK increased CK-BB increased CK-MB increased CK-MM increased CKMiMi increased MB-CK increased MM-CK increased Mi-CK increased MiMi-CK increased adenosine triphosphate-creatine transphosphorylase level increased creatine phosphokinase level increased creatine phosphotransferase level increased phosphocreatine kinase level MPheno.ontology MP:0020280 increased creatine kinase level MP:0020280 increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine MP:0010089 https://orcid.org/0000-0001-5208-3432 decreased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine decreased ATP:creatine N-phosphotransferase level decreased ATP:creatine phosphotransferase level decreased BB-CK decreased CK decreased CK-BB decreased CK-MB decreased CK-MM decreased CKMiMi decreased MB-CK decreased MM-CK decreased Mi-CK decreased MiMi-CK decreased adenosine triphosphate-creatine transphosphorylase level decreased creatine phosphokinase level decreased creatine phosphotransferase level decreased phosphocreatine kinase level MPheno.ontology MP:0020281 decreased creatine kinase level MP:0020281 decreased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine MP:0010089 https://orcid.org/0000-0001-5208-3432 abnormal level of the enzyme that catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane while releasing four ammonia molecules abnormal (4-(2-carboxyethyl)-3-(carboxymethyl)pyrrol-2-yl)methyltransferase (hydrolyzing) level abnormal (4-[2-carboxyethyl]-3-[carboxymethyl]pyrrol-2-yl)methyltransferase (hydrolysing) level abnormal HMB synthase level abnormal HMB-synthase level abnormal porphobilinogen ammonia-lyase (polymerizing) level abnormal porphobilinogen deaminase level abnormal porphobilinogen:(4-[2-carboxyethyl]-3-[carboxymethyl]pyrrol-2-yl)methyltransferase (hydrolysing) level abnormal pre-uroporphyrinogen synthase level abnormal uroporphyrinogen I synthase level abnormal uroporphyrinogen I synthetase level abnormal uroporphyrinogen synthase level abnormal uroporphyrinogen synthetase level MPheno.ontology MP:0020282 abnormal hydroxymethylbilane synthase level MP:0020282 abnormal level of the enzyme that catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane while releasing four ammonia molecules PMID:2609111 https://orcid.org/0000-0001-5208-3432 increased level of the enzyme that catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane while releasing four ammonia molecules increased (4-(2-carboxyethyl)-3-(carboxymethyl)pyrrol-2-yl)methyltransferase (hydrolyzing) level increased (4-[2-carboxyethyl]-3-[carboxymethyl]pyrrol-2-yl)methyltransferase (hydrolysing) level increased HMB synthase level increased HMB-synthase level increased porphobilinogen ammonia-lyase (polymerizing) level increased porphobilinogen deaminase level increased porphobilinogen:(4-[2-carboxyethyl]-3-[carboxymethyl]pyrrol-2-yl)methyltransferase (hydrolysing) level increased pre-uroporphyrinogen synthase level increased uroporphyrinogen I synthase level increased uroporphyrinogen I synthetase level increased uroporphyrinogen synthase level increased uroporphyrinogen synthetase level MPheno.ontology MP:0020283 increased hydroxymethylbilane synthase level MP:0020283 increased level of the enzyme that catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane while releasing four ammonia molecules PMID:2609111 https://orcid.org/0000-0001-5208-3432 decreased level of the enzyme that catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane while releasing four ammonia molecules decreased (4-(2-carboxyethyl)-3-(carboxymethyl)pyrrol-2-yl)methyltransferase (hydrolyzing) level decreased (4-[2-carboxyethyl]-3-[carboxymethyl]pyrrol-2-yl)methyltransferase (hydrolysing) level decreased HMB synthase level decreased HMB-synthase level decreased porphobilinogen ammonia-lyase (polymerizing) level decreased porphobilinogen deaminase level decreased porphobilinogen:(4-[2-carboxyethyl]-3-[carboxymethyl]pyrrol-2-yl)methyltransferase (hydrolysing) level decreased pre-uroporphyrinogen synthase level decreased uroporphyrinogen I synthase level decreased uroporphyrinogen I synthetase level decreased uroporphyrinogen synthase level decreased uroporphyrinogen synthetase level MPheno.ontology MP:0020284 decreased hydroxymethylbilane synthase level MP:0020284 decreased level of the enzyme that catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane while releasing four ammonia molecules PMID:2609111 https://orcid.org/0000-0001-5208-3432 abnomal level of the enzyme that removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation abnormal PPT1 protein abnormal palmitoyl protein thioesterase protein abnormal palmitoyl-[protein] hydrolase level abnormal palmitoyl-protein hydrolase level abnormal palmitoyl-protein thioesterase level abnormal palmitoyl-protein thiolesterase level MPheno.ontology MP:0020285 abnormal palmitoyl-(protein) hydrolase level MP:0020285 abnomal level of the enzyme that removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation PMID:7637805 https://orcid.org/0000-0001-5208-3432 increased level fo the enzyme that removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation increased PPT1 protein increased palmitoyl protein thioesterase protein increased palmitoyl-[protein] hydrolase level increased palmitoyl-protein hydrolase level increased palmitoyl-protein thioesterase level increased palmitoyl-protein thiolesterase level MPheno.ontology MP:0020286 increased palmitoyl-(protein) hydrolase level MP:0020286 increased level fo the enzyme that removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation PMID:7637805 https://orcid.org/0000-0001-5208-3432 reduced level fo the enzyme that removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation decreased PPT1 protein decreased palmitoyl protein thioesterase protein decreased palmitoyl-[protein] hydrolase level decreased palmitoyl-protein hydrolase level decreased palmitoyl-protein thioesterase level decreased palmitoyl-protein thiolesterase level MPheno.ontology MP:0020287 decreased palmitoyl-(protein) hydrolase level MP:0020287 reduced level fo the enzyme that removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation PMID:7637805 https://orcid.org/0000-0001-5208-3432 more than the expected number of limbs differentiate during early embryogenesis polymelia supernumerary limbs MPheno.ontology MP:0020288 ectopic limbs MP:0020288 more than the expected number of limbs differentiate during early embryogenesis https://orcid.org/0000-0001-5208-3432 the inability to stand due to muscular incoordination impaired ability to rise impaired ability to stand up inability to rise MPheno.ontology MP:0020289 astasia MP:0020289 the inability to stand due to muscular incoordination http://medical-dictionary.thefreedictionary.com/astasia https://orcid.org/0000-0001-5208-3432 ears that are limp or hanging loosely MPheno.ontology MP:0020290 floppy ears MP:0020290 ears that are limp or hanging loosely http://www.thefreedictionary.com/floppy https://orcid.org/0000-0001-5208-3432 deviation from the normal level of the cytoplasmic protein that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane MPheno.ontology MP:0020291 abnormal dystrophin level MP:0020291 deviation from the normal level of the cytoplasmic protein that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane PMID:7719347 https://orcid.org/0000-0001-5208-3432 reduced level of the cytoplasmic protein that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane MPheno.ontology MP:0020292 decreased dystrophin level MP:0020292 reduced level of the cytoplasmic protein that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane PMID:7719347 https://orcid.org/0000-0001-5208-3432 greater level of the cytoplasmic protein that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane MPheno.ontology MP:0020293 increased dystrophin level MP:0020293 greater level of the cytoplasmic protein that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane PMID:7719347 https://orcid.org/0000-0001-5208-3432 abnormal level of the enzyme that accelerates the recovery of rods and cones from excitation by light in response to calcium proteins abnormal GCAP2 level MPheno.ontology MP:0020294 abnormal guanylate cyclase activating protein-2 level MP:0020294 abnormal level of the enzyme that accelerates the recovery of rods and cones from excitation by light in response to calcium proteins PMID:23082185 https://orcid.org/0000-0001-5208-3432 decreased level of the enzyme that accelerates the recovery of rods and cones from excitation by light in response to calcium proteins decreased GCAP2 level MPheno.ontology MP:0020295 decreased guanylate cyclase activating protein-2 level MP:0020295 decreased level of the enzyme that accelerates the recovery of rods and cones from excitation by light in response to calcium proteins PMID:23082185 https://orcid.org/0000-0001-5208-3432 increased level of the enzyme that accelerates the recovery of rods and cones from excitation by light in response to calcium proteins increased GCAP2 level MPheno.ontology MP:0020296 increased guanylate cyclase activating protein-2 level MP:0020296 increased level of the enzyme that accelerates the recovery of rods and cones from excitation by light in response to calcium proteins PMID:23082185 https://orcid.org/0000-0001-5208-3432 abnormal level of the enzyme that catalyzes the chemical reaction: UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose to UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose abnormal GlcNAc-phosphotransferase level MPheno.ontology MP:0020297 abnormal UDP-N-acetylglucosamine-1-phosphotransferase level MP:0020297 abnormal level of the enzyme that catalyzes the chemical reaction: UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose to UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose PMID:6452459 https://orcid.org/0000-0001-5208-3432 decreased level of the enzyme that catalyzes the chemical reaction: UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose to UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose decreased GlcNAc-phosphotransferase level MPheno.ontology MP:0020298 decreased UDP-N-acetylglucosamine-1-phosphotransferase level MP:0020298 decreased level of the enzyme that catalyzes the chemical reaction: UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose to UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose PMID:6452459 https://orcid.org/0000-0001-5208-3432 increased level of the enzyme that catalyzes the chemical reaction: UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose to UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose increased GlcNAc-phosphotransferase level MPheno.ontology MP:0020299 increased UDP-N-acetylglucosamine-1-phosphotransferase level MP:0020299 increased level of the enzyme that catalyzes the chemical reaction: UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose to UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose PMID:6452459 https://orcid.org/0000-0001-5208-3432 increased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor increased tongue length MPheno.ontology MP:0020300 long tongue MP:0020300 increased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor https://orcid.org/0000-0001-5208-3432 decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor decreased tongue length MPheno.ontology MP:0020301 short tongue MP:0020301 decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor https://orcid.org/0000-0001-5208-3432 increased size of the one or more of the hard pointed parts that grows on the head of some animals MPheno.ontology MP:0020302 large horns MP:0020302 increased size of the one or more of the hard pointed parts that grows on the head of some animals http://www.merriam-webster.com/dictionary/horn https://orcid.org/0000-0001-5208-3432 decreased size of the one or more of the hard pointed parts that grows on the head of some animals MPheno.ontology MP:0020303 small horns MP:0020303 decreased size of the one or more of the hard pointed parts that grows on the head of some animals http://www.merriam-webster.com/dictionary/horn https://orcid.org/0000-0001-5208-3432 any structural anomaly of the hard pointed parts that grows on the head of some animals MPheno.ontology MP:0020304 abnormal horn morphology MP:0020304 any structural anomaly of the hard pointed parts that grows on the head of some animals http://www.merriam-webster.com/dictionary/horn https://orcid.org/0000-0001-5208-3432 irregular or unusual pigmentation of the hard pointed parts that grows on the head of some animals MPheno.ontology MP:0020305 abnormal horn pigmentation MP:0020305 irregular or unusual pigmentation of the hard pointed parts that grows on the head of some animals http://www.merriam-webster.com/dictionary/horn https://orcid.org/0000-0001-5208-3432 lack of the hard pointed parts that grows on the head of some animals polledness MPheno.ontology MP:0020306 absent horns MP:0020306 lack of the hard pointed parts that grows on the head of some animals http://www.merriam-webster.com/dictionary/horn https://orcid.org/0000-0001-5208-3432 altered ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). abnormal ATP:creatine N-phosphotransferase activity abnormal ATP:creatine phosphotransferase activity abnormal BB-CK activity abnormal CK activity abnormal CK-BB activity abnormal CK-MB activity abnormal CK-MM activity abnormal CKMiMi activity abnormal MB-CK activity abnormal MM-CK activity abnormal Mi-CK activity abnormal MiMi-CK activity abnormal adenosine triphosphate-creatine transphosphorylase activity abnormal creatine phosphokinase activity abnormal creatine phosphotransferase activity abnormal phosphocreatine kinase activity MPheno.ontology MP:0020307 abnormal creatine kinase activity MP:0020307 altered ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). PMID:18977227 https://orcid.org/0000-0001-5208-3432 reduced ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). decreased ATP:creatine N-phosphotransferase activity decreased ATP:creatine phosphotransferase activity decreased BB-CK actvity decreased CK actvity decreased CK-BB actvity decreased CK-MB actvity decreased CK-MM actvity decreased CKMiMi actvity decreased MB-CK actvity decreased MM-CK actvity decreased Mi-CK actvity decreased MiMi-CK actvity decreased adenosine triphosphate-creatine transphosphorylase activity decreased creatine phosphokinase activity decreased creatine phosphotransferase activity decreased phosphocreatine kinase activity MPheno.ontology MP:0020308 decreased creatine kinase activity MP:0020308 reduced ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). PMID:18977227 https://orcid.org/0000-0001-5208-3432 increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). increased ATP:creatine N-phosphotransferase activity increased ATP:creatine phosphotransferase activity increased BB-CK activity increased CK activity increased CK-BB actvity increased CK-MB actvity increased CK-MM actvity increased CKMiMi actvity increased MB-CK actvity increased MM-CK actvity increased Mi-CK actvity increased MiMi-CK actvity increased adenosine triphosphate-creatine transphosphorylase activity increased creatine phosphokinase activity increased creatine phosphotransferase activity increased phosphocreatine kinase activity MPheno.ontology MP:0020309 increased creatine kinase activity MP:0020309 increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). PMID:18977227 https://orcid.org/0000-0001-5208-3432 altered ability of to catalyze the reaction: H(2)O + 4 porphobilinogen = hydroxymethylbilane + 4 NH(4)(+). abnormal (4-(2-carboxyethyl)-3-(carboxymethyl)pyrrol-2-yl)methyltransferase (hydrolyzing) activity abnormal (4-[2-carboxyethyl]-3-[carboxymethyl]pyrrol-2-yl)methyltransferase (hydrolysing) abnormal HMB synthase activity abnormal HMB-synthase activity abnormal porphobilinogen ammonia-lyase (polymerizing) abnormal porphobilinogen deaminase activity abnormal porphobilinogen:(4-[2-carboxyethyl]-3-[carboxymethyl]pyrrol-2-yl)methyltransferase (hydrolysing) abnormal pre-uroporphyrinogen synthase activity abnormal uroporphyrinogen I synthase activity abnormal uroporphyrinogen I synthetase activity abnormal uroporphyrinogen synthase activity abnormal uroporphyrinogen synthetase activity MPheno.ontology MP:0020310 abnormal hydroxymethylbilane synthase activity MP:0020310 altered ability of to catalyze the reaction: H(2)O + 4 porphobilinogen = hydroxymethylbilane + 4 NH(4)(+). PMID:6615434 https://orcid.org/0000-0001-5208-3432 reduced ability of to catalyze the reaction: H(2)O + 4 porphobilinogen = hydroxymethylbilane + 4 NH(4)(+). decreased (4-(2-carboxyethyl)-3-(carboxymethyl)pyrrol-2-yl)methyltransferase (hydrolyzing) activity decreased (4-[2-carboxyethyl]-3-[carboxymethyl]pyrrol-2-yl)methyltransferase (hydrolysing) decreased HMB synthase activity decreased HMB-synthase activity decreased porphobilinogen ammonia-lyase (polymerizing) decreased porphobilinogen deaminase activity decreased porphobilinogen:(4-[2-carboxyethyl]-3-[carboxymethyl]pyrrol-2-yl)methyltransferase (hydrolysing) decreased pre-uroporphyrinogen synthase activity decreased uroporphyrinogen I synthase activity decreased uroporphyrinogen I synthetase activity decreased uroporphyrinogen synthase activity decreased uroporphyrinogen synthetase activity MPheno.ontology MP:0020311 decreased hydroxymethylbilane synthase activity MP:0020311 reduced ability of to catalyze the reaction: H(2)O + 4 porphobilinogen = hydroxymethylbilane + 4 NH(4)(+). PMID:6615434 https://orcid.org/0000-0001-5208-3432 increased ability of to catalyze the reaction: H(2)O + 4 porphobilinogen = hydroxymethylbilane + 4 NH(4)(+). increased (4-(2-carboxyethyl)-3-(carboxymethyl)pyrrol-2-yl)methyltransferase (hydrolyzing) activity increased (4-[2-carboxyethyl]-3-[carboxymethyl]pyrrol-2-yl)methyltransferase (hydrolysing) increased HMB synthase activity increased HMB-synthase activity increased porphobilinogen ammonia-lyase (polymerizing) increased porphobilinogen deaminase activity increased porphobilinogen:(4-[2-carboxyethyl]-3-[carboxymethyl]pyrrol-2-yl)methyltransferase (hydrolysing) increased pre-uroporphyrinogen synthase activity increased uroporphyrinogen I synthase activity increased uroporphyrinogen I synthetase activity increased uroporphyrinogen synthase activity increased uroporphyrinogen synthetase activity MPheno.ontology MP:0020312 increased hydroxymethylbilane synthase activity MP:0020312 increased ability of to catalyze the reaction: H(2)O + 4 porphobilinogen = hydroxymethylbilane + 4 NH(4)(+). PMID:6615434 https://orcid.org/0000-0001-5208-3432 altered ability of to catalyze the reaction: palmitoyl-protein + H2O = palmitate + protein. MPheno.ontology MP:0020313 abnormal palmitoyl-(protein) hydrolase activity MP:0020313 altered ability of to catalyze the reaction: palmitoyl-protein + H2O = palmitate + protein. PMID:7651163 https://orcid.org/0000-0001-5208-3432 reduced ability of to catalyze the reaction: palmitoyl-protein + H2O = palmitate + protein. decreased palmitoyl-[protein] hydrolase activity decreased palmitoyl-protein hydrolase activity decreased palmitoyl-protein thioesterase activity decreased palmitoyl-protein thiolesterase activity MPheno.ontology MP:0020314 decreased palmitoyl-(protein) hydrolase activity MP:0020314 reduced ability of to catalyze the reaction: palmitoyl-protein + H2O = palmitate + protein. PMID:7651163 https://orcid.org/0000-0001-5208-3432 increased ability of to catalyze the reaction: palmitoyl-protein + H2O = palmitate + protein. increased palmitoyl-[protein] hydrolase increased palmitoyl-protein hydrolase activity increased palmitoyl-protein thioesterase activity increased palmitoyl-protein thiolesterase activity MPheno.ontology MP:0020315 increased palmitoyl-(protein) hydrolase activity MP:0020315 increased ability of to catalyze the reaction: palmitoyl-protein + H2O = palmitate + protein. PMID:7651163 https://orcid.org/0000-0001-5208-3432 decrease in the expansion rate of any vascular endothelial cell population by cell division MPheno.ontology MP:0020316 decreased vascular endothelial cell proliferation MP:0020316 decrease in the expansion rate of any vascular endothelial cell population by cell division https://orcid.org/0000-0003-4606-0597 altered ability of an endothelial cell in the vasculature to adhere to another cell or to a non-cellular component of the environment MPheno.ontology MP:0020317 abnormal vascular endothelial cell adhesion MP:0020317 altered ability of an endothelial cell in the vasculature to adhere to another cell or to a non-cellular component of the environment https://orcid.org/0000-0003-4606-0597 greater than expected ability of an endothelial cell in the vasculature to adhere to another cell or to a non-cellular component of the environment MPheno.ontology MP:0020318 increased vascular endothelial cell adhesion MP:0020318 greater than expected ability of an endothelial cell in the vasculature to adhere to another cell or to a non-cellular component of the environment https://orcid.org/0000-0003-4606-0597 less than expected ability of an endothelial cell in the vasculature to adhere to another cell or to a non-cellular component of the environment MPheno.ontology MP:0020319 decreased vascular endothelial cell adhesion MP:0020319 less than expected ability of an endothelial cell in the vasculature to adhere to another cell or to a non-cellular component of the environment https://orcid.org/0000-0003-4606-0597 change in the timing or the number of vascular endothelial cells undergoing programmed cell death MPheno.ontology MP:0020320 abnormal vascular endothelial cell apoptosis MP:0020320 change in the timing or the number of vascular endothelial cells undergoing programmed cell death https://orcid.org/0000-0003-4606-0597 increase in the timing or the number of vascular endothelial cells undergoing programmed cell death MPheno.ontology MP:0020321 increased vascular endothelial cell apoptosis MP:0020321 increase in the timing or the number of vascular endothelial cells undergoing programmed cell death https://orcid.org/0000-0003-4606-0597 decrease in the timing or the number of vascular endothelial cells undergoing programmed cell death MPheno.ontology MP:0020322 decreased vascular endothelial cell apoptosis MP:0020322 decrease in the timing or the number of vascular endothelial cells undergoing programmed cell death https://orcid.org/0000-0003-4606-0597 any anomaly in the proportions of the lowest superficial part of the heart, normally directed downward, forward, and to the left, and overlapped by the left lung and pleura; the heart apex is formed by the inferolateral part of the left ventricle and responsible for regulating ventricle contraction MPheno.ontology MP:0020323 abnormal heart apex size MP:0020323 any anomaly in the proportions of the lowest superficial part of the heart, normally directed downward, forward, and to the left, and overlapped by the left lung and pleura; the heart apex is formed by the inferolateral part of the left ventricle and responsible for regulating ventricle contraction https://orcid.org/0000-0003-4606-0597 development of numerous growths that are connected to and protrude from the mucous membrane of the jejunum jejunal polyposis jejunal polyps jejunum polyposis MPheno.ontology MP:0020324 jejunum polyps MP:0020324 development of numerous growths that are connected to and protrude from the mucous membrane of the jejunum PMID:25578479 https://orcid.org/0000-0003-4606-0597 any structural anomaly of fat cells that are beige in color, thermogenic, and which differentiates in white fat tissue from a Myf5-negative progenitor abnormal beige adipocyte morphology abnormal beige brown adipocyte morphology abnormal brite adipocyte morphology abnormal brite cell morphology abnormal brite fat cell morphology MPheno.ontology MP:0020325 abnormal beige fat cell morphology MP:0020325 any structural anomaly of fat cells that are beige in color, thermogenic, and which differentiates in white fat tissue from a Myf5-negative progenitor CL_0001070 PMID:22796012 PMID:23603813 PMID:24575370 https://orcid.org/0000-0003-4606-0597 stretched or widened aperture of the luminal space of one or more of the small branching blood vessels that form a network between the arterioles and venules capillary dilation dilated capillaries MPheno.ontology MP:0020326 dilated capillary MP:0020326 stretched or widened aperture of the luminal space of one or more of the small branching blood vessels that form a network between the arterioles and venules https://orcid.org/0000-0003-4606-0597 any changes in the placement, morphology or number of divisions of the capillaries MPheno.ontology MP:0020327 abnormal capillary branching pattern MP:0020327 any changes in the placement, morphology or number of divisions of the capillaries PMID:14713950 https://orcid.org/0000-0003-4606-0597 any anomaly in the number of capillaries in a given cross-sectional area of a tissue MPheno.ontology MP:0020328 abnormal capillary density MP:0020328 any anomaly in the number of capillaries in a given cross-sectional area of a tissue PMID:20944627 https://orcid.org/0000-0003-4606-0597 reduction in the number of capillaries in a given cross-sectional area of a tissue MPheno.ontology MP:0020329 decreased capillary density MP:0020329 reduction in the number of capillaries in a given cross-sectional area of a tissue PMID:20944627 https://orcid.org/0000-0003-4606-0597 increase in the number of capillaries in a given cross-sectional area of a tissue MPheno.ontology MP:0020330 increased capillary density MP:0020330 increase in the number of capillaries in a given cross-sectional area of a tissue PMID:20705734 https://orcid.org/0000-0003-4606-0597 increase in the degree of twisting of capillaries tortuous capillaries MPheno.ontology MP:0020331 increased capillary tortuosity MP:0020331 increase in the degree of twisting of capillaries PMCID:PMC3369246 https://orcid.org/0000-0003-4606-0597 reduced ability or inability in the transient adhesive interactions between leukocytes and endothelial cells lining blood vessels mediated primarily by selectins and which are typically the first step in cellular extravasation impaired leucocyte tethering or rolling MPheno.ontology MP:0020332 impaired leukocyte tethering or rolling MP:0020332 reduced ability or inability in the transient adhesive interactions between leukocytes and endothelial cells lining blood vessels mediated primarily by selectins and which are typically the first step in cellular extravasation GO:0050901 https://orcid.org/0000-0003-4606-0597 enhancement of the transient adhesive interactions between leukocytes and endothelial cells lining blood vessels mediated primarily by selectins and which are typically the first step in cellular extravasation enhanced leucocyte tethering or rolling MPheno.ontology MP:0020333 enhanced leukocyte tethering or rolling MP:0020333 enhancement of the transient adhesive interactions between leukocytes and endothelial cells lining blood vessels mediated primarily by selectins and which are typically the first step in cellular extravasation GO:0050901 https://orcid.org/0000-0003-4606-0597 any structural anomaly in the melanin-containing macrophages that obtain the pigment by phagocytosis of melanosomes MPheno.ontology MP:0020334 abnormal melanophage morphology MP:0020334 any structural anomaly in the melanin-containing macrophages that obtain the pigment by phagocytosis of melanosomes CL_0002060 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the highly branched tree-like process of a neuron in one of two interlocking gyri of the hippocampus formation MPheno.ontology MP:0020335 abnormal dentate gyrus neuron dendrite morphology MP:0020335 any structural anomaly of the highly branched tree-like process of a neuron in one of two interlocking gyri of the hippocampus formation https://orcid.org/0000-0003-4606-0597 any structural anomaly of the highly branched tree-like process of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses MPheno.ontology MP:0020336 abnormal motor neuron dendrite morphology MP:0020336 any structural anomaly of the highly branched tree-like process of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses https://orcid.org/0000-0003-4606-0597 structural anomaly of the highly branched tree-like process of the neurons that have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base MPheno.ontology MP:0020337 abnormal pyramidal neuron dendrite morphology MP:0020337 structural anomaly of the highly branched tree-like process of the neurons that have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base CL_0000598 https://orcid.org/0000-0003-4606-0597 structural anomaly of the highly branched tree-like process of the hippocampal neurons that have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base MPheno.ontology MP:0020338 abnormal hippocampal pyramidal neuron dendrite morphology MP:0020338 structural anomaly of the highly branched tree-like process of the hippocampal neurons that have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base CL_1001571 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the highly branched tree-like process of neurons in the retina that receive neural inputs via bipolar, horizontal and amacrine cells abnormal retinal ganglion cell dendrite morphology MPheno.ontology MP:0020339 abnormal retina ganglion cell dendrite morphology MP:0020339 any structural anomaly of the highly branched tree-like process of neurons in the retina that receive neural inputs via bipolar, horizontal and amacrine cells CL_0000740 https://orcid.org/0000-0003-4606-0597 anomaly in the process by which a subject learns to suppress a prior learned response abnormal latent inhibition of learned behavior MPheno.ontology MP:0020340 abnormal inhibitory learning MP:0020340 anomaly in the process by which a subject learns to suppress a prior learned response PMID:19321764 http://cognitivedefusion.tumblr.com/post/90402024947/what-is-inhibitory-learning https://orcid.org/0000-0003-4606-0597 any anomaly in the amount in the blood of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine abnormal circulating hyaluronan level MPheno.ontology MP:0020341 abnormal circulating hyaluronic acid level MP:0020341 any anomaly in the amount in the blood of hyaluronic acid, an anionic nonsulfated glycosaminoglycan containing the constituent sugars: glucuronic acid and glucosamine PMID:9260563 https://orcid.org/0000-0003-4606-0597 decreased size of the second cranial nerve which is responsible for conveying visual information from the retina to the brain; it extends from the retina to the optic chiasma where part of its fibers become the optic tract and cross to the opposite side and pass to the geniculate bodies decreased optic nerve size reduced optic nerve size MPheno.ontology MP:0020342 small optic nerve MP:0020342 decreased size of the second cranial nerve which is responsible for conveying visual information from the retina to the brain; it extends from the retina to the optic chiasma where part of its fibers become the optic tract and cross to the opposite side and pass to the geniculate bodies ORCID:orcid.org/0000-0003-3691-0324 anomaly in the number of the epithelial swelling on the metanephric duct that elongates to invade the adjacent metanephric mesenchyme abnormal mesonephric diverticulum number MPheno.ontology MP:0020343 abnormal ureteric bud number MP:0020343 anomaly in the number of the epithelial swelling on the metanephric duct that elongates to invade the adjacent metanephric mesenchyme https://orcid.org/0000-0003-4606-0597 differences from the expected moribund state caused by trauma, especially that by physical means abnormal resistance to injury induced morbidity/mortality abnormal sensitivity to injury induced morbidity/mortality MPheno.ontology MP:0020344 abnormal susceptibility to injury induced morbidity/mortality MP:0020344 differences from the expected moribund state caused by trauma, especially that by physical means https://orcid.org/0000-0003-4606-0597 any anomaly in the electrical currents produced by cardiac ion channels, typically measured using whole-cell patch-clamp techniques abnormal cardiomyocyte currents abnormal myocardial fibre currents MPheno.ontology MP:0020345 abnormal myocardial fiber currents MP:0020345 any anomaly in the electrical currents produced by cardiac ion channels, typically measured using whole-cell patch-clamp techniques PMID:21372286 PMID:25368181 http://www.ncbi.nlm.nih.gov/books/NBK7515/ any anomaly in the electrical currents produced by cardiac calcium ion channels, typically measured using whole-cell patch-clamp techniques abnormal cardiomyocyte calcium currents MPheno.ontology MP:0020346 abnormal myocardial fiber calcium currents MP:0020346 any anomaly in the electrical currents produced by cardiac calcium ion channels, typically measured using whole-cell patch-clamp techniques https://orcid.org/0000-0003-4606-0597 any anomaly in the electrical currents produced by cardiac sodium ion channels, typically measured using whole-cell patch-clamp techniques abnormal cardiomyocyte sodium currents MPheno.ontology MP:0020347 abnormal myocardial fiber sodium currents MP:0020347 any anomaly in the electrical currents produced by cardiac sodium ion channels, typically measured using whole-cell patch-clamp techniques https://orcid.org/0000-0003-4606-0597 decreased number of the neurons in the olfactory epithelium that are activated by specific odorants decreased olfactory receptor neuron number MPheno.ontology MP:0020348 decreased olfactory sensory neuron number MP:0020348 decreased number of the neurons in the olfactory epithelium that are activated by specific odorants MGI:mberry https://orcid.org/0000-0003-4606-0597 any anomaly in the movement of dendritic cells from one site to another MPheno.ontology MP:0020349 abnormal dendritic cell migration MP:0020349 any anomaly in the movement of dendritic cells from one site to another https://orcid.org/0000-0003-4606-0597 failure of two or more pharyngeal arches to fully separate fused branchial arches MPheno.ontology MP:0020350 fused pharyngeal arches MP:0020350 failure of two or more pharyngeal arches to fully separate PMID:22319578 https://orcid.org/0000-0003-4606-0597 decrease in the production of vocal sound reduced vocalization MPheno.ontology MP:0020351 decreased vocalization MP:0020351 decrease in the production of vocal sound PMID:26621702 https://orcid.org/0000-0003-4606-0597 any functional anomaly of the irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells abnormal ER physiology MPheno.ontology MP:0020352 abnormal endoplasmic reticulum physiology MP:0020352 any functional anomaly of the irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells GO:0005783 https://orcid.org/0000-0003-4606-0597 any anomaly in the accumulation of misfolded or unfolded proteins in the endoplasmic reticulum lumen; this accumulation maybe stimulated by genetic or enviromental factors abnormal ER stress MPheno.ontology MP:0020353 abnormal endoplasmic reticulum stress MP:0020353 any anomaly in the accumulation of misfolded or unfolded proteins in the endoplasmic reticulum lumen; this accumulation maybe stimulated by genetic or enviromental factors PMID:21266244 https://orcid.org/0000-0003-4606-0597 increase in the accumulation of misfolded or unfolded proteins in the endoplasmic reticulum lumen; this accumulation may be stimulated by genetic or environmental factors enhanced ER stress increased ER stress MPheno.ontology MP:0020354 increased endoplasmic reticulum stress MP:0020354 increase in the accumulation of misfolded or unfolded proteins in the endoplasmic reticulum lumen; this accumulation may be stimulated by genetic or environmental factors https://orcid.org/0000-0003-4606-0597 any structural anomaly of the physical barrier found between adjacent Sertoli cells within the seminiferous tubules; the sertoli cell barrier consists of several types of cellular junctions including tight junctions, gap junctions and adhesion junctions, and divides the seminiferous tubules into the basal and apical (adluminal) compartments abnormal BTB morphology abnormal SCB morphology abnormal blood-testis barrier morphology MPheno.ontology MP:0020355 abnormal Sertoli cell barrier morphology MP:0020355 any structural anomaly of the physical barrier found between adjacent Sertoli cells within the seminiferous tubules; the sertoli cell barrier consists of several types of cellular junctions including tight junctions, gap junctions and adhesion junctions, and divides the seminiferous tubules into the basal and apical (adluminal) compartments PMID:24713828 any functional anomaly of the physical barrier found between the blood vessels and the seminiferous tubules of the testes; this barrier between Sertoli cells is composed of tight junctions, basal ectoplasmic specializations, and desmosome-like junctions abnormal BTB function abnormal SCB function abnormal blood-testis barrier function MPheno.ontology MP:0020356 abnormal Sertoli cell barrier function MP:0020356 any functional anomaly of the physical barrier found between the blood vessels and the seminiferous tubules of the testes; this barrier between Sertoli cells is composed of tight junctions, basal ectoplasmic specializations, and desmosome-like junctions PMID:24713828 PMID:24803656 https://en.wikipedia.org/wiki/Blood%E2%80%93testis_barrier any structural anomaly of a synapse in which an action potential in the presynaptic cell increases the probability of an action potential occurring in the postsynaptic cell MPheno.ontology MP:0020357 abnormal excitatory synapse morphology MP:0020357 any structural anomaly of a synapse in which an action potential in the presynaptic cell increases the probability of an action potential occurring in the postsynaptic cell GO:0060076 any structural anomaly in a synapse in which an action potential in the presynaptic cell reduces the probability of an action potential occurring in the postsynaptic cell MPheno.ontology MP:0020358 abnormal inhibitory synapse morphology MP:0020358 any structural anomaly in a synapse in which an action potential in the presynaptic cell reduces the probability of an action potential occurring in the postsynaptic cell GO:0060077 any structural anomaly in a synapse characterized by an electron-dense ribbon, lamella (bar) or spherical body in the presynaptic process cytoplasm MPheno.ontology MP:0020359 abnormal ribbon synapse morphology MP:0020359 any structural anomaly in a synapse characterized by an electron-dense ribbon, lamella (bar) or spherical body in the presynaptic process cytoplasm GO:0097470 any structural anomaly in a type of synapse occurring between an axon and a dendritic spine or dendritic shaft; asymmetric synapses, the most abundant synapse type in the central nervous system, involve axons that contain predominantly spherical vesicles and contain a thickened postsynaptic density abnormal Gray's type I synapse morphology MPheno.ontology MP:0020360 abnormal asymmetric synapse morphology MP:0020360 any structural anomaly in a type of synapse occurring between an axon and a dendritic spine or dendritic shaft; asymmetric synapses, the most abundant synapse type in the central nervous system, involve axons that contain predominantly spherical vesicles and contain a thickened postsynaptic density GO:0032279 any structurla anomaly in synapse that lacks an electron dense postsynaptic specialization; in vertebtrates, these occur primarily on dendrite shafts and neuronal cell bodies and involve persynapses containing clusters of predominantly flattened or elongated vesicles and are typcially inhibitory abnormal Gray's type II synapse morphology MPheno.ontology MP:0020361 abnormal symmetric synapse morphology MP:0020361 any structurla anomaly in synapse that lacks an electron dense postsynaptic specialization; in vertebtrates, these occur primarily on dendrite shafts and neuronal cell bodies and involve persynapses containing clusters of predominantly flattened or elongated vesicles and are typcially inhibitory GO:0032280 any functional anomaly of male germ cells whether they are undifferentiated or fully differentiated MPheno.ontology MP:0020362 abnormal male germ cell physiology MP:0020362 any functional anomaly of male germ cells whether they are undifferentiated or fully differentiated https://orcid.org/0000-0003-4606-0597 any functional anomaly of the germ cell, that is, any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated MPheno.ontology MP:0020363 abnormal germ cell physiology MP:0020363 any functional anomaly of the germ cell, that is, any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated ISBN:0-683-40008-8 any functional anomaly female germ cells whether they are undifferentiated or fully differentiated MPheno.ontology MP:0020364 abnormal female germ cell physiology MP:0020364 any functional anomaly female germ cells whether they are undifferentiated or fully differentiated https://orcid.org/0000-0003-4606-0597 increase in the amount of iron present in the brain tissue https://orcid.org/0000-0003-4606-0597 elevated brain iron level MPheno.ontology MP:0020365 increased brain iron level MP:0020365 increase in the amount of iron present in the brain tissue https://orcid.org/0000-0002-6490-7723 reduction in the amount of iron present in the brain tissue https://orcid.org/0000-0003-4606-0597 reduced brain iron level MPheno.ontology MP:0020366 decreased brain iron level MP:0020366 reduction in the amount of iron present in the brain tissue https://orcid.org/0000-0002-6490-7723 increase in the amount of iron present in the heart tissue elevated cardiac iron level elevated heart iron level increased cardiac iron level MPheno.ontology MP:0020367 increased heart iron level MP:0020367 increase in the amount of iron present in the heart tissue https://orcid.org/0000-0002-6490-7723 reduction in the amount of iron present in the heart tissue decreased cardiac iron level reduced cardiac iron level reduced heart iron level MPheno.ontology MP:0020368 decreased heart iron level MP:0020368 reduction in the amount of iron present in the heart tissue https://orcid.org/0000-0002-6490-7723 increase in the amount of iron present in the large or small intestinal tissue elevated intestinal iron level increased intestinal iron level MPheno.ontology MP:0020369 increased intestine iron level MP:0020369 increase in the amount of iron present in the large or small intestinal tissue https://orcid.org/0000-0002-6490-7723 any structural anomaly in the macroscopic waste clearance system that utilizes a unique system of perivascular tunnels, formed by astroglial cells, to promote efficient elimination of soluble proteins and metabolites from the central nervous system MPheno.ontology MP:0020370 abnormal glymphatic system morphology MP:0020370 any structural anomaly in the macroscopic waste clearance system that utilizes a unique system of perivascular tunnels, formed by astroglial cells, to promote efficient elimination of soluble proteins and metabolites from the central nervous system UBERON:0036145 https://orcid.org/0000-0003-4606-0597 any functional anomaly in the macroscopic waste clearance system that utilizes a unique system of perivascular tunnels, formed by astroglial cells, to promote efficient elimination of soluble proteins and metabolites from the central nervous system MPheno.ontology MP:0020371 abnormal glymphatic system physiology MP:0020371 any functional anomaly in the macroscopic waste clearance system that utilizes a unique system of perivascular tunnels, formed by astroglial cells, to promote efficient elimination of soluble proteins and metabolites from the central nervous system UBERON:0036145 https://orcid.org/0000-0003-4606-0597 altered ability to metabolize tetrachloroethene, a chlorinated olefin solvent with a variety of industrial applications, a ubiquitous contaminant of ground water, soil, ambient and urban air, and is one of the most common pollutants present in many hazardous waste sites abnormal perchloroethylene metabolism abnormal tetrachloroethylene metabolism MPheno.ontology MP:0020372 abnormal tetrachloroethene metabolism MP:0020372 altered ability to metabolize tetrachloroethene, a chlorinated olefin solvent with a variety of industrial applications, a ubiquitous contaminant of ground water, soil, ambient and urban air, and is one of the most common pollutants present in many hazardous waste sites CHEBI:17300 MPD:Molly any anomaly in the process in which a developing blood vessel forms an endothelial lumen through which blood will flow; in vertebrates, the lumen of all blood vessels is lined and formed by endothelial cells; in both vasculogenesis and angiogenesis, lumen formation takes place in a cord of endothelial cells and involves a complex mechanism composed of endothelial cell repulsion at the cell-cell contacts within the endothelial cell cords, junctional rearrangement, and endothelial cell shape change abnormal blood vessel lumenization MPheno.ontology MP:0020373 abnormal blood vessel lumen formation MP:0020373 any anomaly in the process in which a developing blood vessel forms an endothelial lumen through which blood will flow; in vertebrates, the lumen of all blood vessels is lined and formed by endothelial cells; in both vasculogenesis and angiogenesis, lumen formation takes place in a cord of endothelial cells and involves a complex mechanism composed of endothelial cell repulsion at the cell-cell contacts within the endothelial cell cords, junctional rearrangement, and endothelial cell shape change GO:0072554 PMID:22474612 https://orcid.org/0000-0002-6490-7723 any anomaly in a behavioral response to a noxious signal typically mediated by nociception abnormal nocifensive behaviour MPheno.ontology MP:0020374 abnormal nocifensive behavior MP:0020374 any anomaly in a behavioral response to a noxious signal typically mediated by nociception ISBN:1588299333 https://orcid.org/0000-0003-4606-0597 any anomaly in the structure of the articulation between the facet of the tubercle of a rib and the transverse process of a thoracic vertebra MPheno.ontology MP:0020375 abnormal costotransverse joint morphology MP:0020375 any anomaly in the structure of the articulation between the facet of the tubercle of a rib and the transverse process of a thoracic vertebra UBERON:0011967 https://orcid.org/0000-0003-4606-0597 any structural anomaly of the retinal amacrine cells with a characteristic starburst shape of the dendritic arbor and that secrete both the the inhibitory neurotransmitter gamma-aminobutyric acid and the excitatory neurotransmitter acetylcholine abnormal SAC morphology MPheno.ontology MP:0020376 abnormal starburst amacrine cell morphology MP:0020376 any structural anomaly of the retinal amacrine cells with a characteristic starburst shape of the dendritic arbor and that secrete both the the inhibitory neurotransmitter gamma-aminobutyric acid and the excitatory neurotransmitter acetylcholine PMID:24179230 http://webvision.med.utah.edu/book/part-iii-retinal-circuits/roles-of-amacrine-cells/ http://wiki.eyewire.org:88/index.php?title=Starburst_Amacrine_Cell any structural anomaly of the retinal amacrine cells that express dopamine and are often identified by immunostaining for expression of tyrosine hydroxylase MPheno.ontology MP:0020377 abnormal dopaminergic amacrine cell morphology MP:0020377 any structural anomaly of the retinal amacrine cells that express dopamine and are often identified by immunostaining for expression of tyrosine hydroxylase http://webvision.med.utah.edu/book/part-iii-retinal-circuits/roles-of-amacrine-cells/ https://orcid.org/0000-0003-4606-0597 any anomaly in the structure of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm MPheno.ontology MP:0020378 abnormal cell cytoskeleton morphology MP:0020378 any anomaly in the structure of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm GO:0005856 MGI:mberry any anomaly in the desire to drink water containing sucrose compared to consuming straight water MPheno.ontology MP:0020379 abnormal sucrose solution preference MP:0020379 any anomaly in the desire to drink water containing sucrose compared to consuming straight water https://orcid.org/0000-0003-4606-0597 any anomaly in the concentrations of the glycolipids whose sugar group is galactose and that do not have nitrogen in their composition in the body MPheno.ontology MP:0020380 abnormal galactolipid level MP:0020380 any anomaly in the concentrations of the glycolipids whose sugar group is galactose and that do not have nitrogen in their composition in the body CHEBI:5254 https://en.wikipedia.org/wiki/Galactolipid an anomalous non-selective cation current that is unaffected by the normal pore blockers and therefore represents ion movement through a permeation pathway in voltage-sensor domain of the protein rather than through the central pore omega current MPheno.ontology MP:0020381 muscle gating pore current MP:0020381 an anomalous non-selective cation current that is unaffected by the normal pore blockers and therefore represents ion movement through a permeation pathway in voltage-sensor domain of the protein rather than through the central pore PMID:16039561 PMID:25382261 PMID:25624448 increased length of the cilia on cells of the renal tubule or collecting duct elongated kidney epithelial cell primary cilium length MPheno.ontology MP:0020382 increased kidney epithelial cell primary cilium length MP:0020382 increased length of the cilia on cells of the renal tubule or collecting duct PMID:19515853 https://orcid.org/0000-0001-5356-4174 decreased length of the cilia on cells of the renal tubule or collecting duct short kidney epithelial cell primary cilium MPheno.ontology MP:0020383 decreased kidney epithelial cell primary cilium length MP:0020383 decreased length of the cilia on cells of the renal tubule or collecting duct https://orcid.org/0000-0003-4606-0597 absence of non-motile cilia on cells of the renal tubule or collecting duct MPheno.ontology MP:0020384 absent kidney epithelial cell primary cilium MP:0020384 absence of non-motile cilia on cells of the renal tubule or collecting duct https://orcid.org/0000-0003-4606-0597 reduction in the amount of iron present in the large or small intestinal tissue decreased intestinal iron level reduced intestinal iron level reduced intestine iron level MPheno.ontology MP:0020385 decreased intestine iron level MP:0020385 reduction in the amount of iron present in the large or small intestinal tissue https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in adipose tissue https://orcid.org/0000-0003-4606-0597 adipose inflammation fat tissue inflammation MPheno.ontology MP:0020386 adipose tissue inflammation MP:0020386 local accumulation of fluid, plasma proteins, and leukocytes in adipose tissue PMID:24662293 PMID:24695736 PMID:26629401 https://orcid.org/0000-0002-6490-7723 anomaly in the number of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult https://orcid.org/0000-0003-4606-0597 MPheno.ontology MP:0020387 abnormal radial glial cell number MP:0020387 anomaly in the number of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult https://orcid.org/0000-0002-6490-7723 reduction in the number of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult https://orcid.org/0000-0003-4606-0597 reduced radial glial cell number MPheno.ontology MP:0020388 decreased radial glial cell number MP:0020388 reduction in the number of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult PMID:25698753 https://orcid.org/0000-0002-6490-7723 increase in the number of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult https://orcid.org/0000-0003-4606-0597 elevated radial glial cell number MPheno.ontology MP:0020389 increased radial glial cell number MP:0020389 increase in the number of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult PMID:25100583 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the tip of the elongated basal process that extends from the cell body of a radial glial cell through the entire cortical wall; the tip of the basal process, known as the basal endfoot, attaches to the pial basement membrane https://orcid.org/0000-0003-4606-0597 abnormal radial glial endfeet abnormal radial glial endfoot MPheno.ontology MP:0020390 abnormal radial glial cell endfoot morphology MP:0020390 any structural anomaly of the tip of the elongated basal process that extends from the cell body of a radial glial cell through the entire cortical wall; the tip of the basal process, known as the basal endfoot, attaches to the pial basement membrane PMID:26382033 detachment of the radial glia cell endfoot from the pial basement membrane https://orcid.org/0000-0003-4606-0597 detached radial glia endfeet MPheno.ontology MP:0020391 radial glial endfoot detachment MP:0020391 detachment of the radial glia cell endfoot from the pial basement membrane PMID:17715063 PMID:23217742 PMID:24256719 https://orcid.org/0000-0002-6490-7723 change in the timing or the number of radial glial cells undergoing programmed cell death https://orcid.org/0000-0003-4606-0597 abnormal radial glia apoptosis MPheno.ontology MP:0020392 abnormal radial glial cell apoptosis MP:0020392 change in the timing or the number of radial glial cells undergoing programmed cell death PMID:25948253 https://orcid.org/0000-0002-6490-7723 increase in the ability of a neuroblast population to undergo rapid expansion by cell division https://orcid.org/0000-0003-4606-0597 elevated neuroblast proliferation elevated neuronal precursor proliferation elevated neuronal progenitor proliferation increased neuroblast proliferation increased neuronal progenitor proliferation MPheno.ontology MP:0020393 increased neuronal precursor proliferation MP:0020393 increase in the ability of a neuroblast population to undergo rapid expansion by cell division https://orcid.org/0000-0002-6490-7723 reduction in the ability of a neuroblast population to undergo rapid expansion by cell division https://orcid.org/0000-0003-4606-0597 decreased neuroblast proliferation decreased neuronal progenitor proliferation reduced neuroblast proliferation reduced neuronal precursor proliferation reduced neuronal progenitor proliferation MPheno.ontology MP:0020394 decreased neuronal precursor proliferation MP:0020394 reduction in the ability of a neuroblast population to undergo rapid expansion by cell division https://orcid.org/0000-0002-6490-7723 any anomaly in the interaction of an individual with a familiar versus a novel individual of the same species; in mouse the typical behavior is for increased interaction with the novel individual https://orcid.org/0000-0003-4606-0597 abnormal response to novel conspecific abnormal social discrimination MPheno.ontology MP:0020395 abnormal response to social novelty MP:0020395 any anomaly in the interaction of an individual with a familiar versus a novel individual of the same species; in mouse the typical behavior is for increased interaction with the novel individual PMID:23280234 any anomaly in the ability of an individual to recognize another individual of the same species during repeated encounters https://orcid.org/0000-0003-4606-0597 abnormal social memory retention MPheno.ontology MP:0020396 abnormal social recognition MP:0020396 any anomaly in the ability of an individual to recognize another individual of the same species during repeated encounters PMID:11950245 any functional anomaly in the giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm https://orcid.org/0000-0003-4606-0597 abnormal megacaryocyte physiology abnormal megalocaryocyte physiology abnormal megalokaryocyte physiology MPheno.ontology MP:0020397 abnormal megakaryocyte physiology MP:0020397 any functional anomaly in the giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm CL:0000556 any anomaly in the process by which a a megakaryocyte is penetrated by another living cell; unlike in phagocytosis the engulfed cell remains viable and may exit the megakaryocyte without damage to either cell https://orcid.org/0000-0003-4606-0597 MPheno.ontology MP:0020398 abnormal megakaryocyte emperipolesis MP:0020398 any anomaly in the process by which a a megakaryocyte is penetrated by another living cell; unlike in phagocytosis the engulfed cell remains viable and may exit the megakaryocyte without damage to either cell PMID:25654060 an increase in the process by which a a megakaryocyte is penetrated by another living cell https://orcid.org/0000-0003-4606-0597 MPheno.ontology MP:0020399 enhanced megakaryocyte emperipolesis MP:0020399 an increase in the process by which a a megakaryocyte is penetrated by another living cell PMID:25654060 PMID:26950939 excretion of excessive amounts of cystine in the urine https://orcid.org/0000-0003-4606-0597 increased urine cystine level MPheno.ontology MP:0020400 cystinuria MP:0020400 excretion of excessive amounts of cystine in the urine HP:0003131 excretion of excessive amounts of arginine in the urine https://orcid.org/0000-0003-4606-0597 increased urine arginine level MPheno.ontology MP:0020401 argininuria MP:0020401 excretion of excessive amounts of arginine in the urine HP:0003268 excretion of excessive amounts of ornithine in the urine https://orcid.org/0000-0003-4606-0597 increased urine ornithine level MPheno.ontology MP:0020402 ornithinuria MP:0020402 excretion of excessive amounts of ornithine in the urine HP:0003532 excretion of excessive amounts of lysine in the urine https://orcid.org/0000-0003-4606-0597 increased urine lysine level MPheno.ontology MP:0020403 lysinuria MP:0020403 excretion of excessive amounts of lysine in the urine http://medical-dictionary.thefreedictionary.com/lysinuria excretion of excessive amounts of proline in the urine https://orcid.org/0000-0003-4606-0597 increased urine proline level MPheno.ontology MP:0020404 prolinuria MP:0020404 excretion of excessive amounts of proline in the urine HP:0003137 excretion of excessive amounts of taurine in the urine https://orcid.org/0000-0003-4606-0597 increased urinary taurine level increased urine taurine level MPheno.ontology MP:0020405 taurinuria MP:0020405 excretion of excessive amounts of taurine in the urine HP:0003166 excretion of excessive amounts of threonine in the urine https://orcid.org/0000-0003-4606-0597 increased urinary threonine increased urine threonine level MPheno.ontology MP:0020406 hyperthreoninuria MP:0020406 excretion of excessive amounts of threonine in the urine HP:0003296 any anomaly in the formation or presence of one or more thrombi within the blood vessel network of the placenta https://orcid.org/0000-0003-4606-0597 MPheno.ontology MP:0020407 abnormal placental thrombosis MP:0020407 any anomaly in the formation or presence of one or more thrombi within the blood vessel network of the placenta https://orcid.org/0000-0002-6490-7723 any anomaly in the formation of thrombi following stimulation of thrombosis by an external agent https://orcid.org/0000-0003-4606-0597 altered susceptibility to induced thrombosis MPheno.ontology MP:0020408 This term should be used in conjunction with any mechanical, chemical, physical or infectious agent that induces thrombus formation. abnormal susceptibility to induced thrombosis MP:0020408 any anomaly in the formation of thrombi following stimulation of thrombosis by an external agent PMID:16614756 PMID:9262402 any anomaly in the formation or presence of one or more thrombi in the heart https://orcid.org/0000-0003-4606-0597 abnormal heart thrombosis MPheno.ontology MP:0020409 abnormal cardiac thrombosis MP:0020409 any anomaly in the formation or presence of one or more thrombi in the heart PMID:15870284 greater than the expected number of malignant tumors derived from primitive or embryonal lipoblastic cells; these may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid, round-celled, or pleomorphic https://orcid.org/0000-0003-4606-0597 MPheno.ontology MP:0020410 increased liposarcoma incidence MP:0020410 greater than the expected number of malignant tumors derived from primitive or embryonal lipoblastic cells; these may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid, round-celled, or pleomorphic MESH:D008080 PMID:27573812 increase in amount of adipose tissue associated with internal organs https://orcid.org/0000-0003-4606-0597 MPheno.ontology MP:0020411 increased abdominal adipose tissue amount MP:0020411 increase in amount of adipose tissue associated with internal organs https://orcid.org/0000-0002-6490-7723 any functional anomaly of the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected ORCID:orcid.org/0000-0003-4606-0597 MPheno.ontology MP:0020412 abnormal amnion physiology MP:0020412 any functional anomaly of the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected https://orcid.org/0000-0002-6490-7723 increase in the number of cells of the amnion undergoing programmed cell death ORCID:orcid.org/0000-0003-4606-0597 MPheno.ontology MP:0020413 increased amnion apoptosis MP:0020413 increase in the number of cells of the amnion undergoing programmed cell death PMID:26494538 https://orcid.org/0000-0002-6490-7723 any functional anomaly in the cellular physiological processes carried out by a fibroblast cell population ORCID:orcid.org/0000-0003-4606-0597 MPheno.ontology MP:0020414 abnormal fibroblast physiology MP:0020414 any functional anomaly in the cellular physiological processes carried out by a fibroblast cell population https://orcid.org/0000-0002-6490-7723 any anomaly in the directed movement of a fibroblast cell population guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) ORCID:orcid.org/0000-0003-4606-0597 abnormal directed fibroblast migration MPheno.ontology MP:0020415 abnormal fibroblast chemotaxis MP:0020415 any anomaly in the directed movement of a fibroblast cell population guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) https://orcid.org/0000-0002-6490-7723 reduction in the directed movement response of a fibroblast cell population guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) ORCID:orcid.org/0000-0003-4606-0597 impaired directed fibroblast migration impaired fibroblast chemotaxis reduced directed fibroblast migration reduced fibroblast chemotaxis MPheno.ontology MP:0020416 decreased fibroblast chemotaxis MP:0020416 reduction in the directed movement response of a fibroblast cell population guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) PMID:20231695 https://orcid.org/0000-0002-6490-7723 increase in the directed movement response of a fibroblast cell population guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) ORCID:orcid.org/0000-0003-4606-0597 enhanced directed fibroblast migration enhanced fibroblast chemotaxis increased directed fibroblast migration MPheno.ontology MP:0020417 increased fibroblast chemotaxis MP:0020417 increase in the directed movement response of a fibroblast cell population guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) PMID:19217431 https://orcid.org/0000-0002-6490-7723 greater than the normal ability of the cardiac/heart muscle to lengthen following contractions, often measured by dP/dt min ORCID:orcid.org/0000-0003-4606-0597 enhanced cardiac muscle relaxation enhanced heart muscle relaxation increased heart muscle relaxation MPheno.ontology MP:0020418 increased cardiac muscle relaxation MP:0020418 greater than the normal ability of the cardiac/heart muscle to lengthen following contractions, often measured by dP/dt min PMID:11565821 RGD:cur inability or reduced ability of the cardiac/heart muscle to lengthen following contractions, often measured by dP/dt min ORCID:orcid.org/0000-0003-4606-0597 decreased heart muscle relaxation impaired cardiac muscle relaxation impaired heart muscle relaxation MPheno.ontology MP:0020419 decreased cardiac muscle relaxation MP:0020419 inability or reduced ability of the cardiac/heart muscle to lengthen following contractions, often measured by dP/dt min PMID:11565821 RGD:cur any anomaly in the behavior defined as total cessation of movement apart from respiration or eye movement with the animal remaining alert with strong muscle tone; typically a response to potential danger 2017-05-22T15:58:02Z abnormal freezing behaviour MPheno.ontology MP:0020420 In most prey animals this is part of a predator avoidance response, with the individual assuming a hunched posture abnormal freezing behavior MP:0020420 any anomaly in the behavior defined as total cessation of movement apart from respiration or eye movement with the animal remaining alert with strong muscle tone; typically a response to potential danger PMID:11466423 PMID:12837573 In most prey animals this is part of a predator avoidance response, with the individual assuming a hunched posture PMID:12837573 an elevated display, frequency, or duration of freezing behavior 2017-05-22T16:00:48Z increased freezing behaviour MPheno.ontology MP:0020421 increased freezing behavior MP:0020421 a decreased display, frequency, or duration of freezing behavior 2017-05-22T16:01:02Z decreased freezing behaviour MPheno.ontology MP:0020422 decreased freezing behavior MP:0020422 Any anomaly in the the growth and division of pre-existing mitochondria. 2017-05-22T17:58:29Z MPheno.ontology MP:0020423 abnormal mitochondrial biogenesis MP:0020423 Any anomaly in the the growth and division of pre-existing mitochondria. PMID:20533901 PMID:25775561 increased epileptogenic changes, normally induced by daily sub threshold electrical brain stimulation 2017-05-22T18:12:17Z enhanced kindling behavior enhanced kindling response increased kindling behavior MPheno.ontology MP:0020424 increased kindling response MP:0020424 increased epileptogenic changes, normally induced by daily sub threshold electrical brain stimulation PMID:27265781 any functional anomaly of the retinal biopolar cells as determined through electrophysiological recordings from single cells or summary recordings from multiple cells 2017-05-22T19:04:46Z MPheno.ontology MP:0020425 abnormal retinal bipolar cell electrophysiology MP:0020425 any functional anomaly of the retinal biopolar cells as determined through electrophysiological recordings from single cells or summary recordings from multiple cells PMID:12019334 PMID:15452577 any functional anomaly of fat cells that are beige in color, thermogenic, and which differentiates in white fat tissue from a Myf5-negative progenitor 2017-06-05T18:35:23Z abnormal beige adipocyte physiology abnormal beige brown adipocyte physiology abnormal brite adipocyte physiology abnormal brite cell physiology abnormal brite fat cell physiology MPheno.ontology MP:0020426 abnormal beige fat cell physiology MP:0020426 any functional anomaly of fat cells that are beige in color, thermogenic, and which differentiates in white fat tissue from a Myf5-negative progenitor CL_0001070 PMID:22796012 PMID:23603813 PMID:24575370 an increase in the number or proportion of liver cells with enlarged nuclei 2017-06-05T18:49:48Z MPheno.ontology MP:0020427 increased hepatocyte karyomegaly MP:0020427 an increase in the number or proportion of liver cells with enlarged nuclei PMID:22733568 PMID:26980189 PMID:7731963 PMID:8701981 url:http://medical-dictionary.thefreedictionary.com/karyomegaly anomaly in the ability of an animal to learn and remember an association between an unpleasant or punishing stimuli with a neutral, unchanging environment 2017-06-29T15:47:27Z abnormal conditioned place aversion behaviour MPheno.ontology MP:0020428 abnormal conditioned place aversion behavior MP:0020428 anomaly in the ability of an animal to learn and remember an association between an unpleasant or punishing stimuli with a neutral, unchanging environment PMID:17487149 http://btc.psych.ucla.edu/cpp.htm altered number of the most abundant secretory organelle found in blood platelets, and which store adhesive molecules such as von Willebrand factor and fibrinogen, growth factors and inflammatory and angiogenic mediators, which play crucial roles in inflammatory responses and tumor genesis 2017-06-29T17:13:09Z MPheno.ontology MP:0020429 abnormal platelet alpha-granule number MP:0020429 altered number of the most abundant secretory organelle found in blood platelets, and which store adhesive molecules such as von Willebrand factor and fibrinogen, growth factors and inflammatory and angiogenic mediators, which play crucial roles in inflammatory responses and tumor genesis PMID:26391322 increased number of platelet alpha-granules 2017-06-29T17:13:32Z MPheno.ontology MP:0020430 increased platelet alpha-granule number MP:0020430 decreased number of platelet alpha-granules 2017-06-29T17:13:51Z MPheno.ontology MP:0020431 decreased platelet alpha-granule number MP:0020431 decreased number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin 2017-06-29T17:25:18Z decreased platelet delta granule number decreased platelet delta-granule number reduced platelet delta granule number reduced platelet delta-granule number MPheno.ontology MP:0020432 decreased platelet dense granule number MP:0020432 decreased number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin orcid.org/0000-0003-4606-0597 increased number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin 2017-06-29T17:28:00Z increased platelet delta granule number increased platelet delta-granule number MPheno.ontology MP:0020433 increased platelet dense granule number MP:0020433 increased number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin orcid.org/0000-0003-4606-0597 increase in the size of the large neuroglial (macroglial) cells in the central nervous system 2017-07-26T19:04:10Z astrocyte hypertrophy enlarged astrocytes hypertrophic astrocytes MPheno.ontology MP:0020434 increased astrocyte size MP:0020434 increase in the size of the large neuroglial (macroglial) cells in the central nervous system CL:0000127 https://orcid.org/0000-0003-4606-0597 decrease in the size of the large neuroglial (macroglial) cells in the central nervous system 2017-07-26T19:10:54Z astrocyte hypotrophy hypotrophic astrocytes reduced astrocyte size small astrocytes MPheno.ontology MP:0020435 decreased astrocyte size MP:0020435 decrease in the size of the large neuroglial (macroglial) cells in the central nervous system CL:0000127 https://orcid.org/0000-0003-4606-0597 anomaly in the size of the large neuroglial (macroglial) cells in the central nervous system 2017-07-26T19:26:35Z MPheno.ontology MP:0020436 abnormal astrocyte size MP:0020436 anomaly in the size of the large neuroglial (macroglial) cells in the central nervous system CL:0000127 https://orcid.org/0000-0003-4606-0597 behavior performed in the absence of normal stimuli or behavior elicited by normal stimuli but not followed to the completion of the ritualized behavior pattern that is associated with the socialization of an individual into the group 2017-07-26T20:11:57Z abnormal social play behaviour MPheno.ontology abnormal juvenile play behavior abnormal juvenile play behaviour MP:0020437 abnormal social play behavior MP:0020437 behavior performed in the absence of normal stimuli or behavior elicited by normal stimuli but not followed to the completion of the ritualized behavior pattern that is associated with the socialization of an individual into the group NBO:0000049 NBO:0000075 RGD:gthayman https://orcid.org/0000-0003-4606-0597 fewer than the expected number of benign tumors consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic epithelial cells occurring in a specific population in a given time period 2017-08-16T15:53:35Z MPheno.ontology MP:0020438 decreased papilloma incidence MP:0020438 fewer than the expected number of benign tumors consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic epithelial cells occurring in a specific population in a given time period MPATH:445 absence of the wave in the electroretinogram that reflects the health of the inner layers of the retina, including the ON bipolar cells and the Muller cells 2017-08-16T18:40:10Z MPheno.ontology MP:0020439 absent b-wave MP:0020439 absence of the wave in the electroretinogram that reflects the health of the inner layers of the retina, including the ON bipolar cells and the Muller cells http://webvision.med.utah.edu/ an anomaly in the expected color gradient of hair covering the metacarpals and phalanges 2017-08-16T19:15:05Z abnormal hand hair pigmentation MPheno.ontology MP:0020440 abnormal front foot hair pigmentation MP:0020440 an anomaly in the expected color gradient of hair covering the metacarpals and phalanges PMID:28043919 a retinal detachment resulting from a break in the retina that allows vitreal fluid to pass into and accumulate in the subretinal space 2017-08-16T19:43:13Z rhegmatogenous retinal detachment MPheno.ontology retinal tear MP:0020441 rhegmatogenous retina detachment MP:0020441 a retinal detachment resulting from a break in the retina that allows vitreal fluid to pass into and accumulate in the subretinal space PMC:26978024 a retinal detachment resulting from accumulation of fluid between the retina and retinal pigment epithelium in the absence of a retinal tear 2017-08-16T19:46:42Z exudative retina detachment exudative retinal detachment serous retinal detachment MPheno.ontology MP:0020442 serous retina detachment MP:0020442 a retinal detachment resulting from accumulation of fluid between the retina and retinal pigment epithelium in the absence of a retinal tear PMC:26978024 a retinal detachment caused by fibrous or fibrovascular tissue pulling the neuroretina away from the retinal pigment epithelium 2017-08-16T19:50:05Z tractional retinal detachment MPheno.ontology MP:0020443 tractional retina detachment MP:0020443 a retinal detachment caused by fibrous or fibrovascular tissue pulling the neuroretina away from the retinal pigment epithelium PMC:26978024 change in the timing or the number of intestinal cells undergoing programmed cell death 2017-08-22T15:32:19Z abnormal intestinal cell apoptosis MPheno.ontology MP:0020444 abnormal intestine apoptosis MP:0020444 change in the timing or the number of intestinal cells undergoing programmed cell death https://orcid.org/0000-0003-4606-0597 any anomaly in the ability to catalyze the reaction: NAD(P)H + H+ + O2 = NAD(P)+ + hydrogen peroxide 2017-08-29T14:57:15Z abnormal NAD(P)H:oxygen oxidoreductase activity abnormal NADPH oxidase activity abnormal dual oxidase activity MPheno.ontology MP:0020445 abnormal NAD(P)H oxidase activity MP:0020445 any anomaly in the ability to catalyze the reaction: NAD(P)H + H+ + O2 = NAD(P)+ + hydrogen peroxide GO:0016174 RGD:sjwang greater ability to catalyze the reaction: NAD(P)H + H+ + O2 = NAD(P)+ + hydrogen peroxide 2017-08-29T17:12:36Z elevated NAD(P)H oxidase activity increased NAD(P)H:oxygen oxidoreductase activity increased dual oxidase activity MPheno.ontology MP:0020446 increased NAD(P)H oxidase activity MP:0020446 greater ability to catalyze the reaction: NAD(P)H + H+ + O2 = NAD(P)+ + hydrogen peroxide GO:0016174 reduced ability to catalyze the reaction: NAD(P)H + H+ + O2 = NAD(P)+ + hydrogen peroxide 2017-08-29T17:16:41Z decreased NAD(P)H:oxygen oxidoreductase activity decreased dual oxidase activity reduced NAD(P)H oxidase activity MPheno.ontology MP:0020447 decreased NAD(P)H oxidase activity MP:0020447 reduced ability to catalyze the reaction: NAD(P)H + H+ + O2 = NAD(P)+ + hydrogen peroxide GO:0016174 increase in the change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form 2017-08-29T17:53:54Z MPheno.ontology MP:0020448 increased microglial cell activation MP:0020448 increase in the change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form GO:0001774 decrease in the change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form 2017-08-29T17:54:12Z MPheno.ontology MP:0020449 decreased microglial cell activation MP:0020449 decrease in the change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form GO:0001774 any anomaly in the ability of sperm to move in a more or less straight line 2017-08-29T18:20:44Z MPheno.ontology MP:0020450 abnormal sperm progressive motility MP:0020450 any anomaly in the ability of sperm to move in a more or less straight line http://www.equine-reproduction.com/articles/Sperm-Motility.shtml https://orcid.org/0000-0003-4606-0597 https://www.verywell.com/sperm-motility-1960141 decrease in the ability of sperm to move in a more or less straight line 2017-08-29T18:28:14Z impaired sperm progressive motility reduced sperm progressive motility MPheno.ontology MP:0020451 decreased sperm progressive motility MP:0020451 decrease in the ability of sperm to move in a more or less straight line https://orcid.org/0000-0003-4606-0597 any anomaly in the process by which immature Schwann cells surround axons of mixed caliber and send cytoplasmic processes that resemble lamellipodia between axons, to progressively choose and segregate the larger axons at the periphery of the bundle 2017-08-29T19:09:49Z MPheno.ontology MP:0020452 abnormal axon radial sorting MP:0020452 any anomaly in the process by which immature Schwann cells surround axons of mixed caliber and send cytoplasmic processes that resemble lamellipodia between axons, to progressively choose and segregate the larger axons at the periphery of the bundle PMID:25686621 https://orcid.org/0000-0003-4606-0597 any anomaly in the ability of an erythrocyte to adhere to one or more other erythrocytes via adhesion molecules 2017-08-29T19:20:24Z abnormal RBC aggregation abnormal red blood cell aggregation abnormal erythrocyte agglutinability MPheno.ontology MP:0020453 abnormal erythrocyte aggregation MP:0020453 any anomaly in the ability of an erythrocyte to adhere to one or more other erythrocytes via adhesion molecules GO:0034117 https://orcid.org/0000-0003-4606-0597 decrease in the ability of an erythrocyte to adhere to one or more other erythrocytes via adhesion molecules 2017-08-29T19:31:41Z decreased RBC aggregation decreased red blood cell aggregation reduced RBC aggregation reduced erythrocyte aggregation reduced red blood cell aggregation low erythrocyte agglutinability MPheno.ontology MP:0020454 decreased erythrocyte aggregation MP:0020454 decrease in the ability of an erythrocyte to adhere to one or more other erythrocytes via adhesion molecules GO:0034117 https://orcid.org/0000-0003-4606-0597 increase in the ability of an erythrocyte to adhere to one or more other erythrocytes via adhesion molecules 2017-08-29T19:34:13Z elevated erythrocyte aggregation increased RBC aggregation increased red blood cell aggregation high erythrocyte agglutinability MPheno.ontology MP:0020455 increased erythrocyte aggregation MP:0020455 increase in the ability of an erythrocyte to adhere to one or more other erythrocytes via adhesion molecules GO:0034117 https://orcid.org/0000-0003-4606-0597 reduction in the amount of myelin surrounding nerve fibers or axons 2017-09-11T15:21:11Z hypomyelinated reduced myelin sheath amount MPheno.ontology MP:0020456 decreased myelin sheath amount MP:0020456 reduction in the amount of myelin surrounding nerve fibers or axons https://orcid.org/0000-0003-4606-0597 any anomaly in the amount of myelin surrounding nerve fibers or axons 2017-09-11T15:36:29Z MPheno.ontology MP:0020457 abnormal myelin sheath amount MP:0020457 any anomaly in the amount of myelin surrounding nerve fibers or axons https://orcid.org/0000-0003-4606-0597 increase in the amount of myelin surrounding nerve fibers or axons 2017-09-11T15:40:45Z MPheno.ontology MP:0020458 increased myelin sheath amount MP:0020458 increase in the amount of myelin surrounding nerve fibers or axons https://orcid.org/0000-0003-4606-0597 any structural anomaly of the fibrous investing tissue, covered by keratinized epithelium, that immediately surrounds a tooth and is contiguous with its periodontal ligament and with the mucosal tissues of the mouth 2017-09-11T18:13:52Z abnormal gingiva morphology MPheno.ontology MP:0020459 abnormal gum morphology MP:0020459 any structural anomaly of the fibrous investing tissue, covered by keratinized epithelium, that immediately surrounds a tooth and is contiguous with its periodontal ligament and with the mucosal tissues of the mouth UBERON:0001828 any structural anomaly in the stratified squamous epithelium of the gums 2017-09-11T18:18:39Z abnormal gingival epithelium morphology MPheno.ontology MP:0020460 abnormal gum epithelium morphology MP:0020460 any structural anomaly in the stratified squamous epithelium of the gums UBERON:0001949 absence of part of the temporal bone overlying the superior semicircular canal facing toward the dura of the middle cranial fossa creating a third mobile window 2017-09-11T20:18:45Z MPheno.ontology MP:0020461 superior semicircular canal dehiscence MP:0020461 absence of part of the temporal bone overlying the superior semicircular canal facing toward the dura of the middle cranial fossa creating a third mobile window ORCID:0000-0002-2244-7917 PMID:10680863 http://0000-0003-3311-7320 any anomaly in the number of the progenitor cells of the thrombocytic (platelet) line of cells 2017-09-25T15:10:50Z abnormal CFU-Mk number abnormal colony forming unit megakaryocyte number abnormal megacaryoblast number abnormal megacaryocyte progenitor cell number abnormal megakaryoblast number abnormal promegacaryocyte number abnormal promegakaryocyte number MPheno.ontology MP:0020462 abnormal megakaryocyte progenitor cell number MP:0020462 any anomaly in the number of the progenitor cells of the thrombocytic (platelet) line of cells https://orcid.org/0000-0003-4606-0597 increase in the number of the progenitor cells of the thrombocytic (platelet) line of cells 2017-09-25T15:11:04Z elevated colony forming unit megakaryocyte number elevated megacaryoblast number elevated megakaryocyte progenitor cell number elevated promegacaryocyte number increased CFU-Mk number increased megacaryocyte progenitor cell number increased megakaryoblast number increased promegakaryocyte number MPheno.ontology MP:0020463 increased megakaryocyte progenitor cell number MP:0020463 increase in the number of the progenitor cells of the thrombocytic (platelet) line of cells https://orcid.org/0000-0003-4606-0597 decrease in the number of the progenitor cells of the thrombocytic (platelet) line of cells 2017-09-25T15:11:13Z decreased CFU-Mk number decreased colony forming unit megakaryocyte number decreased megacaryoblast number decreased megakaryoblast number decreased promegacaryocyte number reduced megacaryocyte progenitor cell number reduced megakaryocyte progenitor cell number reduced promegakaryocyte number MPheno.ontology MP:0020464 decreased megakaryocyte progenitor cell number MP:0020464 decrease in the number of the progenitor cells of the thrombocytic (platelet) line of cells https://orcid.org/0000-0003-4606-0597 any functional anomaly in the earliest cytologically identifiable precursor in the thrombocytic series 2017-09-25T15:28:32Z abnormal CFU-Mk physiology abnormal colony forming unit megakaryocyte physiology abnormal megacaryoblast physiology abnormal megacaryocyte progenitor cell physiology abnormal promegacaryocyte physiology abnormal promegakaryocyte physiology MPheno.ontology MP:0020465 abnormal megakaryocyte progenitor cell physiology MP:0020465 any functional anomaly in the earliest cytologically identifiable precursor in the thrombocytic series CL:0000553 anomaly in the ability of the progenitor cells of the thrombocytic (platelet) line of cells to undergo expansion by cell division 2017-09-25T15:30:48Z increased CFU-Mk proliferation increased colony forming unit megakaryocyte proliferation increased megacaryoblast proliferation increased megacaryocyte progenitor cell proliferation increased megakaryoblast proliferation increased promegacaryocyte proliferation increased promegakaryocyte proliferation MPheno.ontology MP:0020466 increased megakaryocyte progenitor cell proliferation MP:0020466 anomaly in the ability of the progenitor cells of the thrombocytic (platelet) line of cells to undergo expansion by cell division https://orcid.org/0000-0003-4606-0597 any anomaly in the specific behavior of an organism that recurs with a regularity of approximately 24 hours 2017-09-27T18:17:08Z abnormal circadian behaviour abnormal circadian rhythm behavior abnormal circadian rhythm behaviour MPheno.ontology MP:0020467 abnormal circadian behavior MP:0020467 any anomaly in the specific behavior of an organism that recurs with a regularity of approximately 24 hours GO:0048512 any change in the cycle length of a behavior expressed when exposed to constant conditions without temporal cues 2017-09-27T18:25:37Z abnormal circadian behaviour period MPheno.ontology MP:0020468 abnormal circadian behavior period MP:0020468 any change in the cycle length of a behavior expressed when exposed to constant conditions without temporal cues https://orcid.org/0000-0003-4606-0597 increase in the cycle length of a behavior expressed when exposed to constant conditions without temporal cues 2017-09-27T18:26:01Z prolonged circadian behaviour period MPheno.ontology MP:0020469 prolonged circadian behavior period MP:0020469 increase in the cycle length of a behavior expressed when exposed to constant conditions without temporal cues https://orcid.org/0000-0003-4606-0597 decrease in the cycle length of a behavior expressed when exposed to constant conditions without temporal cues 2017-09-27T18:26:25Z shortened circadian behaviour period MPheno.ontology MP:0020470 shortened circadian behavior period MP:0020470 decrease in the cycle length of a behavior expressed when exposed to constant conditions without temporal cues https://orcid.org/0000-0003-4606-0597 anomaly in the ability for an animal to retain a circadian behavior when time cues are removed 2017-09-27T18:34:59Z abnormal circadian behaviour persistence MPheno.ontology MP:0020471 abnormal circadian behavior persistence MP:0020471 anomaly in the ability for an animal to retain a circadian behavior when time cues are removed https://orcid.org/0000-0003-4606-0597 loss of a behavioral rhythmic pattern upon removal of time cues 2017-09-27T18:35:30Z arrhythmic circadian behaviour persistence MPheno.ontology MP:0020472 arrhythmic circadian behavior persistence MP:0020472 loss of a behavioral rhythmic pattern upon removal of time cues https://orcid.org/0000-0003-4606-0597 anomaly in the phase relationship between a temporal synchronizing event (such as light cycle) and a behavioral phase reference point of an animal (such as activity onset) 2017-09-27T18:40:46Z abnormal circadian behaviour phase MPheno.ontology MP:0020473 abnormal circadian behavior phase MP:0020473 anomaly in the phase relationship between a temporal synchronizing event (such as light cycle) and a behavioral phase reference point of an animal (such as activity onset) https://orcid.org/0000-0003-4606-0597 increase in the phase relationship between a temporal synchronizing event (such as light cycle) and a behavioral phase reference point of an animal (such as activity onset) 2017-09-27T18:41:03Z advanced circadian behaviour phase decreased circadian behavior phase delay decreased circadian behaviour phase delay MPheno.ontology MP:0020474 advanced circadian behavior phase MP:0020474 increase in the phase relationship between a temporal synchronizing event (such as light cycle) and a behavioral phase reference point of an animal (such as activity onset) https://orcid.org/0000-0003-4606-0597 decrease in the phase relationship between a temporal synchronizing event (such as light cycle) and a behavioral phase reference point of an animal (such as activity onset) 2017-09-27T18:41:19Z delayed circadian behaviour phase increased circadian behavior phase delay increased circadian behaviour phase delay MPheno.ontology MP:0020475 delayed circadian behavior phase MP:0020475 decrease in the phase relationship between a temporal synchronizing event (such as light cycle) and a behavioral phase reference point of an animal (such as activity onset) https://orcid.org/0000-0003-4606-0597 anomaly in the synchronization of a circadian behavior to environmental time cues such as light 2017-09-27T18:48:12Z abnormal circardian behaviour entrainment MPheno.ontology MP:0020476 abnormal circardian behavior entrainment MP:0020476 anomaly in the synchronization of a circadian behavior to environmental time cues such as light GO:0009649 any anomaly in the rhythm of the locomotor activity of an organism during its 24 hour activity cycle 2017-09-27T18:57:25Z abnormal circadian locomotor activity rhythm abnormal locomotor rhythm MPheno.ontology MP:0020477 abnormal locomotor circadian rhythm MP:0020477 any anomaly in the rhythm of the locomotor activity of an organism during its 24 hour activity cycle GO:0045475 any anomaly in the cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm 2017-09-27T19:02:23Z MPheno.ontology MP:0020478 abnormal circadian sleep/wake cycle MP:0020478 any anomaly in the cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm GO:0042745 any anomaly in the process in which an organism modulates its hormone levels at different values with a regularity of approximately 24 hours 2017-09-27T19:27:44Z MPheno.ontology MP:0020479 abnormal circadian hormone homeostasis MP:0020479 any anomaly in the process in which an organism modulates its hormone levels at different values with a regularity of approximately 24 hours https://orcid.org/0000-0003-4606-0597 any anomaly in the specific behavioral actions or reactions of an organism that recur with a regularity more frequent than every 24 hours 2017-09-27T19:35:17Z abnormal ultradian rhythm behaviour MPheno.ontology MP:0020480 abnormal ultradian rhythm behavior MP:0020480 any anomaly in the specific behavioral actions or reactions of an organism that recur with a regularity more frequent than every 24 hours GO:0007624 aberrant formation or patterning or incomplete differentiation of the unpaired artery that is formed by the union of the two vertebral arteries, runs forward within the skull just under the pons, divides into the two posterior cerebral arteries, and supplies the pons, cerebellum, posterior part of the cerebrum, and the inner ear 2017-10-11T15:14:19Z MPheno.ontology MP:0020481 abnormal basilar artery development MP:0020481 aberrant formation or patterning or incomplete differentiation of the unpaired artery that is formed by the union of the two vertebral arteries, runs forward within the skull just under the pons, divides into the two posterior cerebral arteries, and supplies the pons, cerebellum, posterior part of the cerebrum, and the inner ear MP:0013186 abnormal position of the blood vessels of the brain in relation to other structures 2017-10-11T15:32:16Z MPheno.ontology MP:0020482 abnormal brain vascular topology MP:0020482 abnormal position of the blood vessels of the brain in relation to other structures https://orcid.org/0000-0003-4606-0597 abnormal position of the arteries of the brain in relation to other structures 2017-10-11T15:32:30Z MPheno.ontology MP:0020483 abnormal brain artery topology MP:0020483 abnormal position of the arteries of the brain in relation to other structures https://orcid.org/0000-0003-4606-0597 abnormal position of the brain internal capsule 2017-10-11T15:45:55Z abnormal internal capsule of telencephalon topology MPheno.ontology MP:0020484 abnormal brain internal capsule topology MP:0020484 abnormal position of the brain internal capsule https://orcid.org/0000-0003-4606-0597 abnormal position of the inferior vena cava 2017-10-11T15:54:27Z abnormal IVC topology abnormal inferior caval vein topology MPheno.ontology MP:0020485 abnormal inferior vena cava topology MP:0020485 abnormal position of the inferior vena cava https://orcid.org/0000-0003-4606-0597 abnormal position or orientation of the lens in relation to other structures of the eye 2017-10-11T19:09:33Z abnormal lens position MPheno.ontology MP:0020486 abnormal lens topology MP:0020486 abnormal position or orientation of the lens in relation to other structures of the eye https://orcid.org/0000-0003-4606-0597 any structural anomaly of the major paired arteries that arise from the internal carotid artery and supply blood to a portion of the frontal lobe and the lateral surface of the temporal and parietal lobes 2017-10-11T19:19:25Z abnormal MCA morphology MPheno.ontology MP:0020487 abnormal middle cerebral artery morphology MP:0020487 any structural anomaly of the major paired arteries that arise from the internal carotid artery and supply blood to a portion of the frontal lobe and the lateral surface of the temporal and parietal lobes http://www.strokecenter.org/professionals/brain-anatomy/blood-vessels-of-the-brain/ https://radiopaedia.org/articles/middle-cerebral-artery any anomaly in the position from which the middle cerebral artery arises 2017-10-11T19:36:06Z abnormal MCA origin MPheno.ontology MP:0020488 abnormal middle cerebral artery origin MP:0020488 any anomaly in the position from which the middle cerebral artery arises https://orcid.org/0000-0003-4606-0597 any structural anomaly in the artery that arises from the internal carotic artery medial to the anterior clinoid process which branches to supply the eye and other structures in the orbit with blood 2017-10-11T19:51:28Z MPheno.ontology MP:0020489 abnormal ophthalmic artery morphology MP:0020489 any structural anomaly in the artery that arises from the internal carotic artery medial to the anterior clinoid process which branches to supply the eye and other structures in the orbit with blood UBERON:0001619 https://radiopaedia.org/articles/ophthalmic-artery any anomaly in the position from which the opthalmic artery arises 2017-10-11T19:51:58Z MPheno.ontology MP:0020490 abnormal ophthalmic artery origin MP:0020490 any anomaly in the position from which the opthalmic artery arises https://orcid.org/0000-0003-4606-0597 any anomaly in the position of the ovary in relation to other structures 2017-10-11T20:06:28Z MPheno.ontology MP:0020491 abnormal ovary topology MP:0020491 any anomaly in the position of the ovary in relation to other structures https://orcid.org/0000-0003-4606-0597 any anomaly in the position of the superior mesenteric vein in relation to other structures 2017-10-11T20:15:15Z MPheno.ontology MP:0020492 abnormal superior mesenteric vein topology MP:0020492 any anomaly in the position of the superior mesenteric vein in relation to other structures https://orcid.org/0000-0003-4606-0597 absence of the entire length of the principal vein draining blood from the lower portion of the body 2017-10-12T14:44:38Z absent IVC MPheno.ontology MP:0020493 absent inferior vena cava MP:0020493 absence of the entire length of the principal vein draining blood from the lower portion of the body https://orcid.org/0000-0003-4606-0597 the infrarenal segment of the inferior vena cava is present on the left side of the body instead of on the right side; typically as a result of regression of the right supracardinal vein and persistence of the left supracardinal vein 2017-10-12T14:54:07Z MPheno.ontology MP:0020494 left sided inferior vena cava MP:0020494 the infrarenal segment of the inferior vena cava is present on the left side of the body instead of on the right side; typically as a result of regression of the right supracardinal vein and persistence of the left supracardinal vein http://www.sciencedirect.com/science/article/pii/S1533316707000374 https://radiopaedia.org/articles/transposition-of-inferior-vena-cava https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3921701/ any structural anomaly of the population of lymphatic endothelial cell precursors that will form the lymph vessels 2017-10-12T15:08:00Z MPheno.ontology MP:0020495 abnormal embryonic lymph sac morphology MP:0020495 any structural anomaly of the population of lymphatic endothelial cell precursors that will form the lymph vessels UBERON:0034953 absence of the part of the trigeminal nerve containing motor fibers, this derives from the basal plate of the embryonic pons and goes into the mandibular branch of the trigeminal nerve 2017-10-12T15:35:58Z MPheno.ontology MP:0020496 absent motoric part of trigeminal nerve MP:0020496 absence of the part of the trigeminal nerve containing motor fibers, this derives from the basal plate of the embryonic pons and goes into the mandibular branch of the trigeminal nerve http://teachmeanatomy.info/head/cranial-nerves/trigeminal-nerve/ https://en.wikipedia.org/wiki/Trigeminal_nerve absence of the splanchnic nerve 2017-10-12T15:47:35Z MPheno.ontology MP:0020497 absent splanchnic nerve MP:0020497 absence of the splanchnic nerve https://orcid.org/0000-0003-4606-0597 a change in the timing or rate of events that alters the size or shape of the entire embryo 2017-10-12T15:56:20Z MPheno.ontology MP:0020498 heterochrony of entire embryo MP:0020498 a change in the timing or rate of events that alters the size or shape of the entire embryo https://en.wikipedia.org/wiki/Heterochrony https://orcid.org/0000-0003-4606-0597 failure of the right umbilical vein to regress 2017-10-12T16:00:10Z MPheno.ontology MP:0020499 persistent right umbilical vein MP:0020499 failure of the right umbilical vein to regress https://orcid.org/0000-0003-4606-0597 failure of the trigeminal artery, the artery that supplies the basilar artery with blood during development, to regress 2017-10-12T16:54:55Z PPTA persistent primitive trigeminal artery MPheno.ontology MP:0020500 persistent trigeminal artery MP:0020500 failure of the trigeminal artery, the artery that supplies the basilar artery with blood during development, to regress https://en.wikipedia.org/wiki/Trigeminal_artery https://radiopaedia.org/articles/persistent-primitive-trigeminal-artery a slender apperance of the mandibular nerve 2017-10-12T17:01:07Z thin CN V3 thin V3 nerve MPheno.ontology MP:0020501 thin mandibular nerve MP:0020501 a slender apperance of the mandibular nerve https://orcid.org/0000-0003-4606-0597 any structural anomaly in the developmental umbilical hernia that occurs when the elongating intestine herniates into the base of the umbilical cord, this normally resolves when the size of the abdomen increases 2017-10-12T17:50:13Z MPheno.ontology MP:0020502 abnormal physiological umbilical hernia morphology MP:0020502 any structural anomaly in the developmental umbilical hernia that occurs when the elongating intestine herniates into the base of the umbilical cord, this normally resolves when the size of the abdomen increases http://www.fetalultrasound.com/online/text/3-097.HTM https://radiopaedia.org/articles/physiological-gut-herniation any structural anomaly of the two long ganglionated nerve strands that run lateral to the vertebral column and extend from the base of the skull to the coccyx; 2017-10-12T18:00:26Z abnormal sympathetic chain morphology abnormal sympathetic nerve trunk morphology MPheno.ontology MP:0020503 abnormal sympathetic trunk morphology MP:0020503 any structural anomaly of the two long ganglionated nerve strands that run lateral to the vertebral column and extend from the base of the skull to the coccyx; http://medical-dictionary.thefreedictionary.com/sympathetic+trunk http://www.sciencedirect.com/topics/neuroscience/sympathetic-trunk any structural anomaly of the portion of the sympathetic trunk located in front of the front of the transverse processes of cervical vertebrae and neck of the 1st rib behind the carotid sheaths and in front of prevertebral fascia 2017-10-12T18:05:57Z abnormal cervical sympathetic nerve trunk morphology MPheno.ontology MP:0020504 abnormal cervical sympathetic trunk morphology MP:0020504 any structural anomaly of the portion of the sympathetic trunk located in front of the front of the transverse processes of cervical vertebrae and neck of the 1st rib behind the carotid sheaths and in front of prevertebral fascia https://www.earthslab.com/anatomy/cervical-part-of-the-sympathetic-trunk/#gsc.tab=0 absence of the cervical section of the sympathetic trunk 2017-10-12T18:11:37Z absent cervical sympathetic nerve trunk MPheno.ontology MP:0020505 absent cervical sympathetic trunk MP:0020505 absence of the cervical section of the sympathetic trunk https://orcid.org/0000-0003-4606-0597 any anomaly in the number of dendritic spines in a given cross-sectional area of a dendrite 2017-11-06T16:31:22Z MPheno.ontology MP:0020506 abnormal dendritic spine density MP:0020506 any anomaly in the number of dendritic spines in a given cross-sectional area of a dendrite https://orcid.org/0000-0003-4606-0597 increase in the number of dendritic spines in a given cross-sectional area of a dendrite 2017-11-06T16:36:40Z MPheno.ontology MP:0020507 increased dendritic spine density MP:0020507 increase in the number of dendritic spines in a given cross-sectional area of a dendrite https://orcid.org/0000-0003-4606-0597 decrease in the number of dendritic spines in a given cross-sectional area of a dendrite 2017-11-06T16:36:59Z MPheno.ontology MP:0020508 decreased dendritic spine density MP:0020508 decrease in the number of dendritic spines in a given cross-sectional area of a dendrite https://orcid.org/0000-0003-4606-0597 any anomaly in the distance from the base to head of a dendritic spine 2017-11-06T16:40:51Z MPheno.ontology MP:0020509 abnormal dendritic spine length MP:0020509 any anomaly in the distance from the base to head of a dendritic spine https://orcid.org/0000-0003-4606-0597 increase in the distance from the base to head of a dendritic spine 2017-11-06T16:49:53Z MPheno.ontology MP:0020510 increased dendritic spine length MP:0020510 increase in the distance from the base to head of a dendritic spine https://orcid.org/0000-0003-4606-0597 decrease in the distance from the base to head of a dendritic spine 2017-11-06T16:50:12Z MPheno.ontology MP:0020511 decreased dendritic spine length MP:0020511 decrease in the distance from the base to head of a dendritic spine https://orcid.org/0000-0003-4606-0597 any structural anomaly of the dendritic spines that have a thin neck and large bulbous head 2017-11-06T18:31:40Z MPheno.ontology MP:0020512 abnormal dendritic mushroom spine morphology MP:0020512 any structural anomaly of the dendritic spines that have a thin neck and large bulbous head PMID:22791026 any structural anomaly of the dendritic spines that have a bulbous head but lack a thin neck; these are typically prominent in postnatal development 2017-11-06T18:33:02Z MPheno.ontology MP:0020513 abnormal dendritic stubby spine morphology MP:0020513 any structural anomaly of the dendritic spines that have a bulbous head but lack a thin neck; these are typically prominent in postnatal development PMID:22791026 any structural anomaly of the dendritic spines that have a long, thin neck and a small bulbous head 2017-11-06T18:33:47Z MPheno.ontology MP:0020514 abnormal dendritic thin spine morphology MP:0020514 any structural anomaly of the dendritic spines that have a long, thin neck and a small bulbous head PMID:22791026 any structural anomaly of the portion of the visceral yolk sac consisting of endoderm-derived cells that is responsible for absorption of nutrients 2018-01-10T15:55:15Z MPheno.ontology MP:0020515 abnormal visceral yolk sac endoderm morphology MP:0020515 any structural anomaly of the portion of the visceral yolk sac consisting of endoderm-derived cells that is responsible for absorption of nutrients PMID:20672346 https://discovery.lifemapsc.com/in-vivo-development/yolk-sac/yolk-sac-endoderm any structural anomaly of the portion of the visceral yolk sac that is derived from mesoderm and consists of mesenchyme 2018-01-10T16:15:49Z MPheno.ontology MP:0020516 abnormal visceral yolk sac mesenchyme morphology MP:0020516 any structural anomaly of the portion of the visceral yolk sac that is derived from mesoderm and consists of mesenchyme UBERON:0003316 any functional anomaly of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo; the yolk that it contains is the site of embryonic hematopoiesis and vitelline circulation is involved in early embryonic circulation; it is the origin of the primordial germ cells 2018-01-10T16:24:20Z MPheno.ontology MP:0020517 abnormal visceral yolk sac physiology MP:0020517 any functional anomaly of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo; the yolk that it contains is the site of embryonic hematopoiesis and vitelline circulation is involved in early embryonic circulation; it is the origin of the primordial germ cells MP:0001718 any anomalous accumulation of protein in the renal glomerulus 2018-01-10T19:12:26Z MPheno.ontology MP:0020518 renal glomerular protein deposits MP:0020518 any anomalous accumulation of protein in the renal glomerulus HP:0030949 any anomalous accumulation of immunoglobulins in the renal glomerulus 2018-01-10T19:16:15Z MPheno.ontology MP:0020519 renal glomerular immunoglobulin deposits MP:0020519 any anomalous accumulation of immunoglobulins in the renal glomerulus PMID:12764198 PMID:17685926 brown adipose tissue displays a morphology more closely resembling white adipose tissue (eg. unilocular lipid droplets, decreased lipid droplet numbers) 2018-01-10T19:50:53Z brown fat whitening MPheno.ontology MP:0020520 whitened brown adipose tissue morphology MP:0020520 brown adipose tissue displays a morphology more closely resembling white adipose tissue (eg. unilocular lipid droplets, decreased lipid droplet numbers) MGI:mperry PMID:24703692 white adipose tissue displays a morphology more closely resembling brown adipose tissue (eg. multilocular droplets, decreased lipid droplet size) including the emergence or brown or beige adipocytes in white adipose tissue; this may represent adaptation to increased thermogenic demand, exercise, injury (thermal injury), and/or disease (cancer) 2018-01-10T19:55:27Z WAT beiging WAT browning beiging of WAT beiging of white adipose tissue browning of WAT browning of white adipose tissue white adipose tissue browning MPheno.ontology MP:0020521 browned white adipose tissue morphology MP:0020521 white adipose tissue displays a morphology more closely resembling brown adipose tissue (eg. multilocular droplets, decreased lipid droplet size) including the emergence or brown or beige adipocytes in white adipose tissue; this may represent adaptation to increased thermogenic demand, exercise, injury (thermal injury), and/or disease (cancer) MGI:mperry PMID:24531262 PMID:27397607 reduction in the expected increase in body temperature following xenobiotic treatment to induced hyperthermia (eg. isopropanol) 2018-01-10T20:42:24Z resistance to xenobiotic induced hyperthermia MPheno.ontology MP:0020522 decreased susceptibility to xenobiotic induced hyperthermia MP:0020522 reduction in the expected increase in body temperature following xenobiotic treatment to induced hyperthermia (eg. isopropanol) MGI:mperry PMID:24531262 smaller than expected drop in body temperature in response to treatment (cold-exposure, dietary restriction, ethanol treatment, etc..) designed to induce hypothermia 2018-01-10T20:52:35Z resistance to induced hypothermia MPheno.ontology MP:0020523 decreased susceptibility to induced hypothermia MP:0020523 smaller than expected drop in body temperature in response to treatment (cold-exposure, dietary restriction, ethanol treatment, etc..) designed to induce hypothermia MGI:mperry PMID:24531262 anomaly in the behavioral response induced by methylenedioxymethamphetamine such as induced hyperactivity or stereotypic behavior 2018-01-24T16:58:21Z abnormal behavioral response to 3,4-methylenedioxymethamphetamine abnormal behavioral response to MDMA abnormal behavioral response to ecstacy abnormal behavioural response to 3,4-methylenedioxymethamphetamine abnormal behavioural response to MDMA abnormal behavioural response to ecstacy abnormal behavioural response to methylenedioxymethamphetamine MPheno.ontology MP:0020524 abnormal behavioral response to methylenedioxymethamphetamine MP:0020524 anomaly in the behavioral response induced by methylenedioxymethamphetamine such as induced hyperactivity or stereotypic behavior CHEBI:1391 MPD:Molly anomaly in the average size of the large ovoid mass of paired bodies containing mostly grey matter and forming part of the lateral wall of the third ventricle of the brain 2018-01-24T20:20:37Z MPheno.ontology MP:0020525 abnormal thalamus size MP:0020525 anomaly in the average size of the large ovoid mass of paired bodies containing mostly grey matter and forming part of the lateral wall of the third ventricle of the brain https://orcid.org/0000-0003-4606-0597 increased size of the thalamus 2018-01-24T20:23:32Z increased thalamus size MPheno.ontology MP:0020526 enlarged thalamus MP:0020526 increased size of the thalamus https://orcid.org/0000-0003-4606-0597 decreased size of the thalamus 2018-01-24T20:26:52Z decreased thalamus size reduced thalamus size MPheno.ontology MP:0020527 small thalamus MP:0020527 decreased size of the thalamus https://orcid.org/0000-0003-4606-0597 decrease in the number of normal cells in normal arrangement in the thalamus, typically resulting in decreased size 2018-01-24T20:30:43Z hypoplastic thalamus MPheno.ontology MP:0020528 thalamus hypoplasia MP:0020528 decrease in the number of normal cells in normal arrangement in the thalamus, typically resulting in decreased size https://orcid.org/0000-0003-4606-0597 abnormal position of the thalamus 2018-01-24T20:35:35Z MPheno.ontology MP:0020529 ectopic thalamus MP:0020529 abnormal position of the thalamus https://orcid.org/0000-0003-4606-0597 derangement of the pattern of thalamic tissues 2018-01-24T20:40:28Z disorganised thalamus MPheno.ontology MP:0020530 disorganized thalamus MP:0020530 derangement of the pattern of thalamic tissues https://orcid.org/0000-0003-4606-0597 the cerebellar lobules are increased in size or number 2018-02-12T16:05:08Z increased cerebellum foliation increased folia MPheno.ontology MP:0020531 increased cerebellar foliation MP:0020531 the cerebellar lobules are increased in size or number https://orcid.org/0000-0003-4606-0597 a deviation from the normal size of the pons 2018-02-12T16:14:06Z MPheno.ontology MP:0020532 abnormal pons size MP:0020532 a deviation from the normal size of the pons https://orcid.org/0000-0003-4606-0597 decreased size of or number of the nerve fibers in the pons 2018-02-12T16:19:18Z reduced pons size small pons MPheno.ontology MP:0020533 decreased pons size MP:0020533 decreased size of or number of the nerve fibers in the pons https://orcid.org/0000-0003-4606-0597 increased size of or number of the nerve fibers in the pons 2018-02-12T16:19:29Z enlarged pons MPheno.ontology MP:0020534 increased pons size MP:0020534 increased size of or number of the nerve fibers in the pons https://orcid.org/0000-0003-4606-0597 a deviation from the normal size of the subiculum 2018-02-12T16:29:50Z MPheno.ontology MP:0020535 abnormal subiculum size MP:0020535 a deviation from the normal size of the subiculum https://orcid.org/0000-0003-4606-0597 increase in the size of the subiculum 2018-02-12T16:32:21Z enlarged subiculum MPheno.ontology MP:0020536 increased subiculum size MP:0020536 increase in the size of the subiculum https://orcid.org/0000-0003-4606-0597 decreased size of the subiculum 2018-02-12T16:32:48Z reduced subiculum size small subiculum MPheno.ontology MP:0020537 decreased subiculum size MP:0020537 decreased size of the subiculum https://orcid.org/0000-0003-4606-0597 a deviation from the normal size of the cerebellum fastigial nucleus 2018-02-12T16:49:51Z abnormal cerebellum roof nucleus size abnormal cerebellum tectal nucleus size abnormal medial cerebellar nucleus size MPheno.ontology MP:0020538 abnormal cerebellum fastigial nucleus size MP:0020538 a deviation from the normal size of the cerebellum fastigial nucleus https://orcid.org/0000-0003-4606-0597 increased size of the cerebellum fastigial nucleus 2018-02-12T16:53:20Z enlarged cerebellum roof nucleus enlarged cerebellum tectal nucleus enlarged medial cerebellar nucleus increased cerebellum roof nucleus size increased cerebellum tectal nucleus size increased medial cerebellar nucleus size MPheno.ontology MP:0020539 increased cerebellum fastigial nucleus size MP:0020539 increased size of the cerebellum fastigial nucleus https://orcid.org/0000-0003-4606-0597 decreased size of the cerebellum fastigial nucleus 2018-02-12T16:53:49Z decreased cerebellum roof nucleus size decreased cerebellum tectal nucleus size decreased medial cerebellar nucleus size reduced cerebellum fastigial nucleus size reduced cerebellum roof nucleus size reduced cerebellum tectal nucleus size reduced medial cerebellar nucleus size small cerebellum fastigial nucleus small cerebellum roof nucleus small cerebellum tectal nucleus small medial cerebellar nucleus MPheno.ontology MP:0020540 decreased cerebellum fastigial nucleus size MP:0020540 decreased size of the cerebellum fastigial nucleus https://orcid.org/0000-0003-4606-0597 a deviation from the normal size of the substantia nigra 2018-02-12T17:04:08Z abnormal locus niger size abnormal nucleus niger size MPheno.ontology MP:0020541 abnormal substantia nigra size MP:0020541 a deviation from the normal size of the substantia nigra https://orcid.org/0000-0003-4606-0597 increased size of the substantia nigra 2018-02-12T17:04:20Z enlarged locus niger enlarged nucleus niger enlarged substantia nigra increased locus niger size increased nucleus niger size MPheno.ontology MP:0020542 increased substantia nigra size MP:0020542 increased size of the substantia nigra https://orcid.org/0000-0003-4606-0597 decreased size of the substantia nigra 2018-02-12T17:04:30Z decreased locus niger size decreased nucleus niger size reduced locus niger size reduced nucleus niger size reduced substantia nigra size small locus niger small nucleus niger small substantia nigra MPheno.ontology MP:0020543 decreased substantia nigra size MP:0020543 decreased size of the substantia nigra https://orcid.org/0000-0003-4606-0597 a deviation from the normal size of the hippocampal fornix 2018-02-12T18:12:03Z abnormal fornix hippocampus size abnormal hippocampus fornix size MPheno.ontology MP:0020544 abnormal hippocampal fornix size MP:0020544 a deviation from the normal size of the hippocampal fornix https://orcid.org/0000-0003-4606-0597 decreased size of the hippocampal fornix 2018-02-12T18:12:23Z decreased fornix hippocampus size decreased hippocampus fornix size reduced fornix hippocampus size reduced hippocampal fornix size reduced hippocampus fornix size small fornix hippocampus small hippocampal fornix small hippocampus fornix MPheno.ontology MP:0020545 decreased hippocampal fornix size MP:0020545 decreased size of the hippocampal fornix https://orcid.org/0000-0003-4606-0597 increased size of the hippocampal fornix 2018-02-12T18:12:35Z enlarged fornix hippocampus enlarged hippocampal fornix enlarged hippocampus fornix increased fornix hippocampus size increased hippocampus fornix size MPheno.ontology MP:0020546 increased hippocampal fornix size MP:0020546 increased size of the hippocampal fornix https://orcid.org/0000-0003-4606-0597 a deviation from the normal size of the optic chiasm 2018-02-12T18:24:36Z abnormal optic chiasma size abnormal optic decussation size MPheno.ontology MP:0020547 abnormal optic chiasm size MP:0020547 a deviation from the normal size of the optic chiasm https://orcid.org/0000-0003-4606-0597 decreased size of the optic chiasm 2018-02-12T18:25:15Z decreased optic chiasma size decreased optic decussation size reduced optic chiasm size reduced optic chiasma size reduced optic decussation size small optic chiasm small optic chiasma small optic decussation MPheno.ontology MP:0020548 decreased optic chiasm size MP:0020548 decreased size of the optic chiasm https://orcid.org/0000-0003-4606-0597 increased size of the optic chiasm 2018-02-12T18:25:25Z enlarged optic chiasm enlarged optic chiasma enlarged optic decussation increased optic chiasma size increased optic decussation size MPheno.ontology MP:0020549 increased optic chiasm size MP:0020549 increased size of the optic chiasm https://orcid.org/0000-0003-4606-0597 presence of large cells containing multiple nuclei formed abnormal opening of the cytoplasmic bridges that are part of normal germ cell division 2018-02-12T19:06:29Z multinucleated giant cells seminiferous tubule giant cells MPheno.ontology MP:0020550 multinucleated giant male germ cells MP:0020550 presence of large cells containing multiple nuclei formed abnormal opening of the cytoplasmic bridges that are part of normal germ cell division PMID:16272280 url:https://ntp.niehs.nih.gov/nnl/male_reproductive/testis/setubmgcel/index.htm any structural anomaly of the electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse 2018-02-12T20:00:34Z abnormal neuronal post-synaptic density morphology abnormal neuronal postsynaptic density morphology abnormal post synaptic density morphology abnormal post-synaptic density morphology abnormal post-synaptic density of dendrite morphology abnormal postsynaptic density of dendrite morphology MPheno.ontology MP:0020551 abnormal postsynaptic density morphology MP:0020551 any structural anomaly of the electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse GO:0014069 any structural anomaly of a bundle of afferent fibers that form a ridge over the thalamus and project from the telensephalon to the habenular nucleus 2018-02-26T16:57:13Z abnormal stria medullaris of thalamus MPheno.ontology MP:0020552 abnormal stria medullaris morphology MP:0020552 any structural anomaly of a bundle of afferent fibers that form a ridge over the thalamus and project from the telensephalon to the habenular nucleus UBERON:0006086 a deviation from the normal size of the stria medullaris 2018-02-26T17:08:49Z abnormal stria medullaris of thalamus size MPheno.ontology MP:0020553 abnormal stria medullaris size MP:0020553 a deviation from the normal size of the stria medullaris https://orcid.org/0000-0003-4606-0597 decrease in the size of the stria medullaris 2018-02-26T17:09:01Z decreased stria medullaris of thalamus size MPheno.ontology MP:0020554 decreased stria medullaris size MP:0020554 decrease in the size of the stria medullaris https://orcid.org/0000-0003-4606-0597 increase in the size of the stria medullaris 2018-02-26T17:09:15Z increased stria medullaris of thalamus size MPheno.ontology MP:0020555 increased stria medullaris size MP:0020555 increase in the size of the stria medullaris https://orcid.org/0000-0003-4606-0597 any structural anomaly of a circumscript ovoid group of small neurons in the medial zone of the tuberal region of the hypothalamus delineated by a narrow, cell-sparse zone; this region regulates feeding, fear, thermoregulation and sexual activity 2018-02-26T19:10:32Z abnormal ventromedial nucleus of hypothalamus morphology ventromedial hypothalamic nucleus dysplasia MPheno.ontology MP:0020556 abnormal ventromedial hypothalamic nucleus morphology MP:0020556 a deviation from the normal size of the ventromedial hypothalamic nucleus 2018-02-26T19:32:43Z abnormal ventromedial nucleus of hypothalamus size MPheno.ontology MP:0020557 abnormal ventromedial hypothalamic nucleus size MP:0020557 decrease in the size of the ventromedial hypothalamic nucleus 2018-02-26T19:32:56Z decreased ventromedial nucleus of hypothalamus size reduced ventromedial hypothalamic nucleus size small ventromedial hypothalamic nucleus MPheno.ontology MP:0020558 decreased ventromedial hypothalamic nucleus size MP:0020558 increase in the size of the ventromedial hypothalamic nucleus 2018-02-26T19:33:12Z enlarged ventromedial hypothalamic nucleus increased ventromedial nucleus of hypothalamus size MPheno.ontology MP:0020559 increased ventromedial hypothalamic nucleus size MP:0020559 any structural anomaly of nuclei in the basal pons, intermingled among the descending axons from the cortex, that receive neocortcial input and give rise to many axons that cross the midline to enter the contralateral cerebellum 2018-02-26T19:59:56Z abnormal griseum pontis morphology abnormal nuclei brachii pontis morphology abnormal nuclei pontis morphology abnormal nucleus pontis morphology abnormal pontine gray matter morphology abnormal pontine gray morphology abnormal pontine nuclear complex morphology abnormal pontine nuclear group morphology MPheno.ontology MP:0020560 abnormal pontine nuclei morphology MP:0020560 any structural anomaly of nuclei in the basal pons, intermingled among the descending axons from the cortex, that receive neocortcial input and give rise to many axons that cross the midline to enter the contralateral cerebellum UBERON:0002151 a deviation from the normal size of the pontine nuclei 2018-02-26T20:12:01Z abnormal griseum pontis size MPheno.ontology MP:0020561 abnormal pontine nuclei size MP:0020561 a deviation from the normal size of the pontine nuclei https://orcid.org/0000-0003-4606-0597 a decrease in the size of the pontine nuclei 2018-02-26T20:14:38Z decreased griseum pontis size reduced pontine nuclei size small pontine nuclei MPheno.ontology MP:0020562 decreased pontine nuclei size MP:0020562 a decrease in the size of the pontine nuclei https://orcid.org/0000-0003-4606-0597 an increase in the size of the pontine nuclei 2018-02-26T20:14:51Z enlarged pontine nuclei increased griseum pontis size MPheno.ontology MP:0020563 increased pontine nuclei size MP:0020563 an increase in the size of the pontine nuclei https://orcid.org/0000-0003-4606-0597 any structural anomaly of the fiber pathway in the metencephalon that project from the pons to the contralateral cerebellum 2018-02-26T20:34:00Z abnormal fiber of pons morphology abnormal fibrae pontocerebellaris morphology abnormal fibre of pons morphology abnormal pontine crossing tract morphology abnormal pontocerebellar tract morphology abnormal tractus pontocerebellaris morphology MPheno.ontology MP:0020564 abnormal pontocerebellar fibers morphology MP:0020564 any structural anomaly of the fiber pathway in the metencephalon that project from the pons to the contralateral cerebellum UBERON:0022421 url:http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1345 a deviation from the normal size of the pontocerebellar fibers 2018-02-26T20:39:24Z abnormal fiber of pons size abnormal fibre of pons size abnormal pontocerebellar fibres size MPheno.ontology MP:0020565 abnormal pontocerebellar fibers size MP:0020565 a deviation from the normal size of the pontocerebellar fibers https://orcid.org/0000-0003-4606-0597 decrease in the size of the pontocerebellar fibers 2018-02-26T20:39:37Z decreased fiber of pons size decreased fibre of pons size decreased pontocerebellar fibres size reduced pontocerebellar fibers size reduced pontocerebellar fibres size small pontocerebellar fibers small pontocerebellar fibres MPheno.ontology MP:0020566 decreased pontocerebellar fibers size MP:0020566 decrease in the size of the pontocerebellar fibers https://orcid.org/0000-0003-4606-0597 increase in the size of the pontocerebellar fibers 2018-02-26T20:39:48Z enlarged pontocerebellar fibers enlarged pontocerebellar fibres increased fiber of pons size increased fibre of pons size increased pontocerebellar fibres size MPheno.ontology MP:0020567 increased pontocerebellar fibers size MP:0020567 increase in the size of the pontocerebellar fibers https://orcid.org/0000-0003-4606-0597 any structural anomaly of the part of the motor cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord; the premotor cortex influences movements of the face, neck and trunk, and upper and lower extremities 2018-02-26T21:13:54Z abnormal nonprimary motor cortex morphology abnormal premotor area morphology abnormal secondary motor areas morphology abnormal secondary motor cortex morphology MPheno.ontology MP:0020568 abnormal premotor cortex morphology MP:0020568 any structural anomaly of the part of the motor cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord; the premotor cortex influences movements of the face, neck and trunk, and upper and lower extremities UBERON:0016634 url:http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2331 any deviation from the normal size of the premotor cortex 2018-02-26T21:27:10Z MPheno.ontology MP:0020569 abnormal premotor cortex size MP:0020569 any deviation from the normal size of the premotor cortex https://orcid.org/0000-0003-4606-0597 decrease in the size of the premotor cortex 2018-02-26T21:27:36Z decreased secondary motor cortex size reduced secondary motor cortex size small premotor cortex MPheno.ontology MP:0020570 decreased premotor cortex size MP:0020570 decrease in the size of the premotor cortex https://orcid.org/0000-0003-4606-0597 increase in the size of the premotor cortex 2018-02-26T21:27:50Z enlarged premotor cortex increased secondary motor cortex size MPheno.ontology MP:0020571 increased premotor cortex size MP:0020571 increase in the size of the premotor cortex https://orcid.org/0000-0003-4606-0597 any anomaly of the number of cells (mainly oligodendrocytes) of the corpus callosum 2018-03-19T17:33:21Z abnormal corpus callosum cell count MPheno.ontology MP:0020572 abnormal corpus callosum cell number MP:0020572 any anomaly of the number of cells (mainly oligodendrocytes) of the corpus callosum PMID:20007460 https://orcid.org/0000-0003-4606-0597 deviation from the average range of corpus callosum size compared to normal 2018-03-19T17:43:20Z MPheno.ontology MP:0020573 abnormal corpus callosum size MP:0020573 deviation from the average range of corpus callosum size compared to normal https://orcid.org/0000-0003-4606-0597 any anomaly of the density of cells (mainly oligodendrocytes) of the corpus callosum 2018-03-19T17:52:15Z MPheno.ontology MP:0020574 abnormal corpus callosum cell density MP:0020574 any anomaly of the density of cells (mainly oligodendrocytes) of the corpus callosum https://orcid.org/0000-0003-4606-0597 increase in the number of cells (mainly oligodendrocytes) of the corpus callosum 2018-03-19T17:56:03Z MPheno.ontology MP:0020575 increased corpus callosum cell number MP:0020575 increase in the number of cells (mainly oligodendrocytes) of the corpus callosum https://orcid.org/0000-0003-4606-0597 decrease in the number of cells (mainly oligodendrocytes) of the corpus callosum 2018-03-19T17:56:20Z MPheno.ontology MP:0020576 decreased corpus callosum cell number MP:0020576 decrease in the number of cells (mainly oligodendrocytes) of the corpus callosum https://orcid.org/0000-0003-4606-0597 anomaly in the number of the cells of the pancreas that secrete glucagon 2018-03-26T17:25:30Z MPheno.ontology MP:0020577 abnormal pancreatic alpha cell number MP:0020577 anomaly in the number of the cells of the pancreas that secrete glucagon https://orcid.org/0000-0002-4154-7358 anomaly in the number of the cells of the pancreas that secrete insulin 2018-03-26T17:29:04Z MPheno.ontology MP:0020578 abnormal pancreatic beta cell number MP:0020578 anomaly in the number of the cells of the pancreas that secrete insulin https://orcid.org/0000-0002-4154-7358 any anomaly in the number of the cells of the pancreas that secrete somatostatin 2018-03-26T17:31:45Z MPheno.ontology MP:0020579 abnormal pancreatic delta cell number MP:0020579 any anomaly in the number of the cells of the pancreas that secrete somatostatin https://orcid.org/0000-0003-4606-0597 any anomaly in the number of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin 2018-03-26T17:35:10Z MPheno.ontology MP:0020580 abnormal pancreatic epsilon cell number MP:0020580 any anomaly in the number of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin https://orcid.org/0000-0003-4606-0597 any anomaly in the normal orientation or arrangement of the axon(s) and dendrite(s) in relation to the neuronal cell body 2018-03-26T19:43:46Z abnormal axon-dendrite polarity of the neuron MPheno.ontology MP:0020581 abnormal neuron polarity MP:0020581 any anomaly in the normal orientation or arrangement of the axon(s) and dendrite(s) in relation to the neuronal cell body PMID:26133936 https://orcid.org/0000-0003-4606-0597 increased concentrations of ceramide 2018-03-26T20:00:57Z elevated ceramide level MPheno.ontology MP:0020582 increased ceramide level MP:0020582 increased concentrations of ceramide https://orcid.org/0000-0003-4606-0597 decreased concentrations of ceramide 2018-03-26T20:01:10Z reduced ceramide level MPheno.ontology MP:0020583 decreased ceramide level MP:0020583 decreased concentrations of ceramide https://orcid.org/0000-0003-4606-0597 decrease in the density of cells (mainly oligodendrocytes) of the corpus callosum 2018-04-09T17:15:36Z reduced corpus callosum cell density MPheno.ontology MP:0020584 decreased corpus callosum cell density MP:0020584 decrease in the density of cells (mainly oligodendrocytes) of the corpus callosum https://orcid.org/0000-0003-4606-0597 increase in the density of cells (mainly oligodendrocytes) of the corpus callosum 2018-04-09T17:15:50Z MPheno.ontology MP:0020585 increased corpus callosum cell density MP:0020585 increase in the density of cells (mainly oligodendrocytes) of the corpus callosum https://orcid.org/0000-0003-4606-0597 any anomaly in the measurement of all areas of cells contained in the corpus callosum 2018-04-09T17:20:37Z MPheno.ontology MP:0020586 abnormal corpus callosum total cell area MP:0020586 any anomaly in the measurement of all areas of cells contained in the corpus callosum WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the corpus callosum divided by the total number of cells present in the corpus callosum 2018-04-09T17:20:50Z MPheno.ontology MP:0020587 abnormal corpus callosum average cell area MP:0020587 any anomaly in the measurement of all areas of cells contained in the corpus callosum divided by the total number of cells present in the corpus callosum WTSI:vancollie increase in the average of the total cell area contained in the corpus callosum 2018-04-09T17:27:16Z MPheno.ontology MP:0020588 increased corpus callosum average cell area MP:0020588 increase in the average of the total cell area contained in the corpus callosum https://orcid.org/0000-0003-4606-0597 decrease in the average of the total cell area contained in the corpus callosum 2018-04-09T17:27:36Z reduced corpus callosum average cell area MPheno.ontology MP:0020589 decreased corpus callosum average cell area MP:0020589 decrease in the average of the total cell area contained in the corpus callosum https://orcid.org/0000-0003-4606-0597 decrease in the total area of all cells in the corpus callosum 2018-04-09T17:39:49Z reduced corpus callosum total cell area MPheno.ontology MP:0020590 decreased corpus callosum total cell area MP:0020590 decrease in the total area of all cells in the corpus callosum https://orcid.org/0000-0003-4606-0597 increase in the total area of all cells in the corpus callosum 2018-04-09T17:40:00Z MPheno.ontology MP:0020591 increased corpus callosum total cell area MP:0020591 increase in the total area of all cells in the corpus callosum https://orcid.org/0000-0003-4606-0597 any anomaly of the number of cells of the cerebral cortex 2018-04-09T18:00:47Z abnormal cerebral cortex cell count MPheno.ontology MP:0020592 abnormal cerebral cortex cell number MP:0020592 any anomaly of the number of cells of the cerebral cortex WTSI:vancollie increase in the number of cells of the cerebral cortex 2018-04-09T18:01:11Z increased cerebral cortex cell count MPheno.ontology MP:0020593 increased cerebral cortex cell number MP:0020593 increase in the number of cells of the cerebral cortex WTSI:vancollie decrease in the number of cells of the cerebral cortex 2018-04-09T18:01:21Z decreased cerebral cortex cell count reduced cerebral cortex cell count reduced cerebral cortex cell number MPheno.ontology MP:0020594 decreased cerebral cortex cell number MP:0020594 decrease in the number of cells of the cerebral cortex WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the cerebral cortex 2018-04-09T18:10:17Z MPheno.ontology MP:0020595 abnormal cerebral cortex total cell area MP:0020595 any anomaly in the measurement of all areas of cells contained in the cerebral cortex WTSI:vancollie decrease in the total area of all cells contained in the cerebral cortex 2018-04-09T18:10:27Z reduced cerebral cortex total cell area MPheno.ontology MP:0020596 decreased cerebral cortex total cell area MP:0020596 decrease in the total area of all cells contained in the cerebral cortex WTSI:vancollie increase in the total area of all cells contained in the cerebral cortex 2018-04-09T18:10:38Z MPheno.ontology MP:0020597 increased cerebral cortex total cell area MP:0020597 increase in the total area of all cells contained in the cerebral cortex WTSI:vancollie any anomaly of the density of cells of the cerebral cortex 2018-04-09T18:16:22Z MPheno.ontology MP:0020598 abnormal cerebral cortex cell density MP:0020598 any anomaly of the density of cells of the cerebral cortex WTSI:vancollie increase of the density of cells of the cerebral cortex 2018-04-09T18:16:35Z MPheno.ontology MP:0020599 increased cerebral cortex cell density MP:0020599 increase of the density of cells of the cerebral cortex WTSI:vancollie decrease of the density of cells of the cerebral cortex 2018-04-09T18:16:46Z reduced cerebral cortex cell density MPheno.ontology MP:0020600 decreased cerebral cortex cell density MP:0020600 decrease of the density of cells of the cerebral cortex WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the cerebral cortex divided by the total number of cells present in the cerebral cortex 2018-04-09T18:23:34Z MPheno.ontology MP:0020601 abnormal cerebral cortex average cell area MP:0020601 any anomaly in the measurement of all areas of cells contained in the cerebral cortex divided by the total number of cells present in the cerebral cortex WTSI:vancollie decrease in the average of the total cell area contained in the cerebral cortex 2018-04-09T18:24:12Z reduced cerebral cortex average cell area MPheno.ontology MP:0020602 decreased cerebral cortex average cell area MP:0020602 decrease in the average of the total cell area contained in the cerebral cortex WTSI:vancollie increase in the average of the total cell area contained in the cerebral cortex 2018-04-09T18:24:21Z MPheno.ontology MP:0020603 increased cerebral cortex average cell area MP:0020603 increase in the average of the total cell area contained in the cerebral cortex WTSI:vancollie any anomaly of the number of cells of the thalamus 2018-04-09T19:24:19Z abnormal number of thalamus cells abnormal thalamus cell count MPheno.ontology MP:0020604 abnormal thalamus cell number MP:0020604 any anomaly of the number of cells of the thalamus WTSI:vancollie increase in the number of cells in the thalamus 2018-04-09T19:24:40Z increased number of thalamus cells increased thalamus cell count MPheno.ontology MP:0020605 increased thalamus cell number MP:0020605 increase in the number of cells in the thalamus WTSI:vancollie decrease in the number of cells of the thalamus 2018-04-09T19:24:48Z decreased number of thalamus cells decreased thalamus cell count reduced number of thalamus cells reduced thalamus cell count reduced thalamus cell number MPheno.ontology MP:0020606 decreased thalamus cell number MP:0020606 decrease in the number of cells of the thalamus WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the thalamus 2018-04-09T19:33:06Z abnormal total area of thalamus cells MPheno.ontology MP:0020607 abnormal thalamus total cell area MP:0020607 any anomaly in the measurement of all areas of cells contained in the thalamus WTSI:vancollie decrease in the total area of all cells contained in the thalamus 2018-04-09T19:33:17Z decreased total area of thalamus cells reduced thalamus total cell area reduced total area of thalamus cells MPheno.ontology MP:0020608 decreased thalamus total cell area MP:0020608 decrease in the total area of all cells contained in the thalamus WTSI:vancollie increase in the total area of all cells contained in the thalamus 2018-04-09T19:33:26Z increased total area of thalamus cells MPheno.ontology MP:0020609 increased thalamus total cell area MP:0020609 increase in the total area of all cells contained in the thalamus WTSI:vancollie any anomaly of the density of cells of the thalamus 2018-04-09T19:38:15Z abnormal density of thalamus cells MPheno.ontology MP:0020610 abnormal thalamus cell density MP:0020610 any anomaly of the density of cells of the thalamus WTSI:vancollie increase of the density of cells of the thalamus 2018-04-09T19:38:30Z increased density of thalamus cells MPheno.ontology MP:0020611 increased thalamus cell density MP:0020611 increase of the density of cells of the thalamus WTSI:vancollie decrease of the density of cells of the thalamus 2018-04-09T19:38:45Z decreased density of thalamus cells reduced density of thalamus cells reduced thalamus cell density MPheno.ontology MP:0020612 decreased thalamus cell density MP:0020612 decrease of the density of cells of the thalamus WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the thalamus divided by the total number of cells present in the thalamus 2018-04-09T19:49:02Z abnormal average area of thalamus cells MPheno.ontology MP:0020613 abnormal thalamus average cell area MP:0020613 any anomaly in the measurement of all areas of cells contained in the thalamus divided by the total number of cells present in the thalamus WTSI:vancollie decrease in the average of the total cell area contained in the thalamus 2018-04-09T19:49:13Z decreased average area of thalamus cells reduced average area of thalamus cells reduced thalamus average cell area MPheno.ontology MP:0020614 decreased thalamus average cell area MP:0020614 decrease in the average of the total cell area contained in the thalamus WTSI:vancollie increase in the average of the total cell area contained in the thalamus 2018-04-09T19:49:31Z increased average area of thalamus cells MPheno.ontology MP:0020615 increased thalamus average cell area MP:0020615 increase in the average of the total cell area contained in the thalamus WTSI:vancollie any anomaly of the number of cells of the dorsal striatum 2018-04-09T20:26:50Z abnormal caudate putamen cell count abnormal caudate putamen cell number abnormal number of caudate putamen cells MPheno.ontology MP:0020616 abnormal dorsal striatum cell number MP:0020616 any anomaly of the number of cells of the dorsal striatum WTSI:vancollie decrease in the number of cells of the dorsal striatum 2018-04-09T20:27:04Z decreased caudate putamen cell count decreased caudate putamen cell number reduced caudate putamen cell count reduced caudate putamen cell number MPheno.ontology MP:0020617 decreased dorsal striatum cell number MP:0020617 decrease in the number of cells of the dorsal striatum WTSI:vancollie increase in the number of cells of the dorsal striatum 2018-04-09T20:27:18Z increased caudate putamen cell count increased caudate putamen cell number increased number of caudate putamen cells MPheno.ontology MP:0020618 increased dorsal striatum cell number MP:0020618 increase in the number of cells of the dorsal striatum WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the dorsal striatum 2018-04-09T20:35:42Z abnormal caudate putamen total cell area abnormal total area of caudate putamen cells MPheno.ontology MP:0020619 abnormal dorsal striatum total cell area MP:0020619 any anomaly in the measurement of all areas of cells contained in the dorsal striatum WTSI:vancollie increase in the total area of all cells contained in dorsal striatum 2018-04-09T20:36:04Z increased caudate putamen total cell area increased total area of caudate putamen cells MPheno.ontology MP:0020620 increased dorsal striatum total cell area MP:0020620 increase in the total area of all cells contained in dorsal striatum WTSI:vancollie decrease in the total area of all cells contained in dorsal striatum 2018-04-09T20:36:15Z decreased caudate putamen total cell area decreased total area of caudate putamen cells MPheno.ontology MP:0020621 decreased dorsal striatum total cell area MP:0020621 decrease in the total area of all cells contained in dorsal striatum WTSI:vancollie any anomaly of the density of cells of the dorsal striatum 2018-04-09T20:42:53Z abnormal caudate putamen cell density abnormal density of caudate putamen cells MPheno.ontology MP:0020622 abnormal dorsal striatum cell density MP:0020622 any anomaly of the density of cells of the dorsal striatum WTSI:vancollie increase of the density of cells of the dorsal striatum 2018-04-09T20:43:18Z increased caudate putamen cell density increased density of caudate putamen cells MPheno.ontology MP:0020623 increased dorsal striatum cell density MP:0020623 increase of the density of cells of the dorsal striatum WTSI:vancollie decrease of the density of cells of the dorsal striatum 2018-04-09T20:43:28Z decreased caudate putamen cell density decreased density of caudate putamen cells MPheno.ontology MP:0020624 decreased dorsal striatum cell density MP:0020624 decrease of the density of cells of the dorsal striatum WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the dorsal striatum divided by the total number of cells present in the dorsal striatum 2018-04-10T14:42:21Z abnormal average area of caudate putamen cells abnormal caudate putamen average cell area MPheno.ontology MP:0020625 abnormal dorsal striatum average cell area MP:0020625 any anomaly in the measurement of all areas of cells contained in the dorsal striatum divided by the total number of cells present in the dorsal striatum WTSI:vancollie decrease in the average of the total cell area contained in the dorsal striatum 2018-04-10T14:43:31Z decreased average area of caudate putamen cells decreased caudate putamen average cell area reduced caudate putamen average cell area reduced dorsal striatum average cell area MPheno.ontology MP:0020626 decreased dorsal striatum average cell area MP:0020626 decrease in the average of the total cell area contained in the dorsal striatum WTSI:vancollie increase in the average of the total cell area contained in the dorsal striatum 2018-04-10T14:44:07Z increased average area of caudate putamen cells increased caudate putamen average cell area MPheno.ontology MP:0020627 increased dorsal striatum average cell area MP:0020627 increase in the average of the total cell area contained in the dorsal striatum WTSI:vancollie any anomaly of the number of cells of the hippocampus 2018-04-10T15:19:16Z abnormal hippocampus cell count abnormal number of hippocampus cells MPheno.ontology MP:0020628 abnormal hippocampus cell number MP:0020628 any anomaly of the number of cells of the hippocampus WTSI:vancollie decrease in the number of cells of the hippocampus 2018-04-10T15:19:42Z decreased hippocampus cell count decreased number of hippocampus cells reduced hippocampus cell count reduced hippocampus cell number MPheno.ontology MP:0020629 decreased hippocampus cell number MP:0020629 decrease in the number of cells of the hippocampus WTSI:vancollie increase in the number of cells of the hippocampus 2018-04-10T15:19:55Z increased hippocampus cell count increased number of hippocampus cells MPheno.ontology MP:0020630 increased hippocampus cell number MP:0020630 increase in the number of cells of the hippocampus WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the hippocampus 2018-04-10T15:26:24Z abnormal total area of hippocampus cells MPheno.ontology MP:0020631 abnormal hippocampus total cell area MP:0020631 any anomaly in the measurement of all areas of cells contained in the hippocampus WTSI:vancollie decrease in the total area of all cells contained in the hippocampus 2018-04-10T15:26:34Z decreased total area of hippocampus cells reduced hippocampus total cell area reduced total area of hippocampus cells MPheno.ontology MP:0020632 decreased hippocampus total cell area MP:0020632 decrease in the total area of all cells contained in the hippocampus WTSI:vancollie increase in the total area of all cells contained in the hippocampus 2018-04-10T15:26:42Z increased total area of hippocampus cells MPheno.ontology MP:0020633 increased hippocampus total cell area MP:0020633 increase in the total area of all cells contained in the hippocampus WTSI:vancollie any anomaly of the density of cells of the hippocampus 2018-04-10T15:38:17Z abnormal density of hippocampus cells MPheno.ontology MP:0020634 abnormal hippocampus cell density MP:0020634 any anomaly of the density of cells of the hippocampus WTSI:vancollie decrease of the density of cells of the hippocampus 2018-04-10T15:38:26Z decreased density of hippocampus cells reduced density of hippocampus cells reduced hippocampus cell density MPheno.ontology MP:0020635 decreased hippocampus cell density MP:0020635 decrease of the density of cells of the hippocampus WTSI:vancollie increase of the density of cells of the hippocampus 2018-04-10T15:38:35Z increased density of hippocampus cells MPheno.ontology MP:0020636 increased hippocampus cell density MP:0020636 increase of the density of cells of the hippocampus WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the hippocampus divided by the total number of cells present in the hippocampus 2018-04-10T15:46:22Z abnormal average area of hippocampus cells MPheno.ontology MP:0020637 abnormal hippocampus average cell area MP:0020637 any anomaly in the measurement of all areas of cells contained in the hippocampus divided by the total number of cells present in the hippocampus WTSI:vancollie decrease in the average of the total cell area contained in the hippocampus 2018-04-10T15:46:32Z decreased average area of hippocampus cells reduced average area of hippocampus cells reduced hippocampus average cell area MPheno.ontology MP:0020638 decreased hippocampus average cell area MP:0020638 decrease in the average of the total cell area contained in the hippocampus WTSI:vancollie increase in the average of the total cell area contained in the hippocampus 2018-04-10T15:46:41Z increased average area of hippocampus cells MPheno.ontology MP:0020639 increased hippocampus average cell area MP:0020639 increase in the average of the total cell area contained in the hippocampus WTSI:vancollie any anomaly of the number of cells of the hippocampal fimbria 2018-04-10T15:52:27Z abnormal hippocampal fimbria cell count abnormal number of hippocampal fimbria cells MPheno.ontology MP:0020640 abnormal hippocampal fimbria cell number MP:0020640 any anomaly of the number of cells of the hippocampal fimbria WTSI:vancollie decrease in the number of cells of the hippocampal fimbria 2018-04-10T15:52:42Z decreased hippocampal fimbria cell count decreased number of hippocampal fimbria cells reduced hippocampal fimbria cell count reduced hippocampal fimbria cell number reduced number of hippocampal fimbria cells MPheno.ontology MP:0020641 decreased hippocampal fimbria cell number MP:0020641 decrease in the number of cells of the hippocampal fimbria WTSI:vancollie increase in the number of cells of the hippocampal fimbria 2018-04-10T15:53:02Z increased hippocampal fimbria cell count increased number of hippocampal fimbria cells MPheno.ontology MP:0020642 increased hippocampal fimbria cell number MP:0020642 increase in the number of cells of the hippocampal fimbria WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the hippocampal fimbria 2018-04-10T16:00:20Z abnormal total area of hippocampal fimbria cells MPheno.ontology MP:0020643 abnormal hippocampal fimbria total cell area MP:0020643 any anomaly in the measurement of all areas of cells contained in the hippocampal fimbria WTSI:vancollie decrease in the total area of all cells contained in the hippocampal fimbria 2018-04-10T16:00:30Z decreased total area of hippocampal fimbria cells reduced hippocampal fimbria total cell area reduced total area of hippocampal fimbria cells MPheno.ontology MP:0020644 decreased hippocampal fimbria total cell area MP:0020644 decrease in the total area of all cells contained in the hippocampal fimbria WTSI:vancollie increase in the total area of all cells contained in the hippocampal fimbria 2018-04-10T16:00:44Z increased total area of hippocampal fimbria cells MPheno.ontology MP:0020645 increased hippocampal fimbria total cell area MP:0020645 increase in the total area of all cells contained in the hippocampal fimbria WTSI:vancollie any anomaly of the density of cells of the hippocampal fimbria 2018-04-10T16:07:34Z abnormal density of hippocampal fimbria cells MPheno.ontology MP:0020646 abnormal hippocampal fimbria cell density MP:0020646 any anomaly of the density of cells of the hippocampal fimbria WTSI:vancollie decrease of the density of cells of the hippocampal fimbria 2018-04-10T16:07:44Z decreased density of hippocampal fimbria cells reduced density of hippocampal fimbria cells reduced hippocampal fimbria cell density MPheno.ontology MP:0020647 decreased hippocampal fimbria cell density MP:0020647 decrease of the density of cells of the hippocampal fimbria WTSI:vancollie increase of the density of cells of the hippocampal fimbria 2018-04-10T16:07:54Z increased density of hippocampal fimbria cells MPheno.ontology MP:0020648 increased hippocampal fimbria cell density MP:0020648 increase of the density of cells of the hippocampal fimbria WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the hippocampal fimbria divided by the total number of cells present in the hippocampal fimbria 2018-04-10T16:15:22Z abnormal average area of hippocampal fimbria cells MPheno.ontology MP:0020649 abnormal hippocampal fimbria average cell area MP:0020649 any anomaly in the measurement of all areas of cells contained in the hippocampal fimbria divided by the total number of cells present in the hippocampal fimbria WTSI:vancollie decrease in the average of the total cell area contained in the hippocampal fimbria 2018-04-10T16:15:34Z decreased average area of hippocampal fimbria cells reduced average area of hippocampal fimbria cells reduced hippocampal fimbria average cell area MPheno.ontology MP:0020650 decreased hippocampal fimbria average cell area MP:0020650 decrease in the average of the total cell area contained in the hippocampal fimbria WTSI:vancollie increase in the average of the total cell area contained in the hippocampal fimbria 2018-04-10T16:15:46Z increased average area of hippocampal fimbria cells MPheno.ontology MP:0020651 increased hippocampal fimbria average cell area MP:0020651 increase in the average of the total cell area contained in the hippocampal fimbria WTSI:vancollie any anomaly of the number of cells of the anterior commissure 2018-04-10T17:15:20Z abnormal anterior commissure cell count abnormal number of anterior commissure cells MPheno.ontology MP:0020652 abnormal anterior commissure cell number MP:0020652 any anomaly of the number of cells of the anterior commissure WTSI:vancollie decrease in the number of cells of the anterior commissure 2018-04-10T17:15:35Z decreased anterior commissure cell count decreased number of anterior commissure cells reduced anterior commissure cell count reduced number of anterior commissure cells MPheno.ontology MP:0020653 decreased anterior commissure cell number MP:0020653 decrease in the number of cells of the anterior commissure WTSI:vancollie increase in the number of cells of the anterior commissure 2018-04-10T17:15:49Z increased anterior commissure cell count increased number of anterior commissure cells MPheno.ontology MP:0020654 increased anterior commissure cell number MP:0020654 increase in the number of cells of the anterior commissure WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the anterior commissure 2018-04-10T17:21:51Z abnormal total area of anterior commissure cells MPheno.ontology MP:0020655 abnormal anterior commissure total cell area MP:0020655 any anomaly in the measurement of all areas of cells contained in the anterior commissure WTSI:vancollie decrease in the total area of all cells contained in the anterior commissure 2018-04-10T17:22:00Z decreased total area of anterior commissure cells MPheno.ontology MP:0020656 decreased anterior commissure total cell area MP:0020656 decrease in the total area of all cells contained in the anterior commissure WTSI:vancollie increase in the total area of all cells contained in the anterior commissure 2018-04-10T17:22:17Z increased total area of anterior commissure cells MPheno.ontology MP:0020657 increased anterior commissure total cell area MP:0020657 increase in the total area of all cells contained in the anterior commissure WTSI:vancollie any anomaly of the density of cells of the anterior commissure 2018-04-10T17:27:40Z abnormal density of anterior commissure cells MPheno.ontology MP:0020658 abnormal anterior commissure cell density MP:0020658 any anomaly of the density of cells of the anterior commissure WTSI:vancollie decrease of the density of cells of the anterior commissure 2018-04-10T17:27:54Z decreased density of anterior commissure cells MPheno.ontology MP:0020659 decreased anterior commissure cell density MP:0020659 decrease of the density of cells of the anterior commissure WTSI:vancollie increase of the density of cells of the anterior commissure 2018-04-10T17:28:06Z increased density of anterior commissure cells MPheno.ontology MP:0020660 increased anterior commissure cell density MP:0020660 increase of the density of cells of the anterior commissure WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the anterior commissure divided by the total number of cells present in the anterior commissure 2018-04-10T17:32:24Z abnormal average area of anterior commissure cells MPheno.ontology MP:0020661 abnormal anterior commissure average cell area MP:0020661 any anomaly in the measurement of all areas of cells contained in the anterior commissure divided by the total number of cells present in the anterior commissure WTSI:vancollie decrease in the average of the total cell area contained in the anterior commissure 2018-04-10T17:32:34Z decreased average area of anterior commissure cells reduced anterior commissure average cell area reduced average area of anterior commissure cells MPheno.ontology MP:0020662 decreased anterior commissure average cell area MP:0020662 decrease in the average of the total cell area contained in the anterior commissure WTSI:vancollie increase in the average of the total cell area contained in the anterior commissure 2018-04-10T17:32:44Z increased average area of anterior commissure cells MPheno.ontology MP:0020663 increased anterior commissure average cell area MP:0020663 increase in the average of the total cell area contained in the anterior commissure WTSI:vancollie any anomaly of the number of cells of the stria medullaris 2018-04-10T17:54:07Z abnormal number of stria medullaris cells abnormal stria medullaris cell count MPheno.ontology MP:0020664 abnormal stria medullaris cell number MP:0020664 any anomaly of the number of cells of the stria medullaris WTSI:vancollie decrease in the number of cells of the stria medullaris 2018-04-10T17:54:21Z decreased number of stria medullaris cells decreased stria medullaris cell count reduced number of stria medullaris cells reduced stria medullaris cell count reduced stria medullaris cell number MPheno.ontology MP:0020665 decreased stria medullaris cell number MP:0020665 decrease in the number of cells of the stria medullaris WTSI:vancollie increase in the number of cells of the stria medullaris 2018-04-10T17:54:36Z increased number of stria medullaris cells increased stria medullaris cell count MPheno.ontology MP:0020666 increased stria medullaris cell number MP:0020666 increase in the number of cells of the stria medullaris WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the stria medullaris 2018-04-10T18:00:56Z abnormal total area of stria medullaris cells MPheno.ontology MP:0020667 abnormal stria medullaris total cell area MP:0020667 any anomaly in the measurement of all areas of cells contained in the stria medullaris WTSI:vancollie decrease in the total area of all cells contained in the stria medullaris 2018-04-10T18:01:07Z decreased total area of stria medullaris cells reduced stria medullaris total cell area reduced total area of stria medullaris cells MPheno.ontology MP:0020668 decreased stria medullaris total cell area MP:0020668 decrease in the total area of all cells contained in the stria medullaris WTSI:vancollie increase in the total area of all cells contained in the stria medullaris 2018-04-10T18:01:17Z increased total area of stria medullaris cells MPheno.ontology MP:0020669 increased stria medullaris total cell area MP:0020669 increase in the total area of all cells contained in the stria medullaris WTSI:vancollie any anomaly of the density of cells of the stria medullaris 2018-04-10T18:07:20Z abnormal density of stria medullaris cells MPheno.ontology MP:0020670 abnormal stria medullaris cell density MP:0020670 any anomaly of the density of cells of the stria medullaris WTSI:vancollie decrease of the density of cells of the stria medullaris 2018-04-10T18:07:31Z decreased density of stria medullaris cells reduced density of stria medullaris cells reduced stria medullaris cell density MPheno.ontology MP:0020671 decreased stria medullaris cell density MP:0020671 decrease of the density of cells of the stria medullaris WTSI:vancollie increase of the density of cells of the stria medullaris 2018-04-10T18:07:42Z increased density of stria medullaris cells MPheno.ontology MP:0020672 increased stria medullaris cell density MP:0020672 increase of the density of cells of the stria medullaris WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the stria medullaris divided by the total number of cells present in the stria medullaris 2018-04-10T18:12:48Z abnormal average area of stria medullaris cells MPheno.ontology MP:0020673 abnormal stria medullaris average cell area MP:0020673 any anomaly in the measurement of all areas of cells contained in the stria medullaris divided by the total number of cells present in the stria medullaris WTSI:vancollie decrease in the average of the total cell area contained in the stria medullaris 2018-04-10T18:12:58Z decreased average area of stria medullaris cells MPheno.ontology MP:0020674 decreased stria medullaris average cell area MP:0020674 decrease in the average of the total cell area contained in the stria medullaris WTSI:vancollie increase in the average of the total cell area contained in the stria medullaris 2018-04-10T18:13:10Z increased average area of stria medullaris cells MPheno.ontology MP:0020675 increased stria medullaris average cell area MP:0020675 increase in the average of the total cell area contained in the stria medullaris WTSI:vancollie any anomaly of the number of cells of the hippocampal fornix 2018-04-10T18:30:05Z abnormal fornix cell count abnormal number of fornix cells MPheno.ontology MP:0020676 abnormal hippocampal fornix cell number MP:0020676 any anomaly of the number of cells of the hippocampal fornix WTSI:vancollie decrease in the number of cells of the hippocampal fornix 2018-04-10T18:30:33Z decreased fornix cell count decreased number of fornix cells reduced fornix cell count reduced number of fornix cells MPheno.ontology MP:0020677 decreased hippocampal fornix cell number MP:0020677 decrease in the number of cells of the hippocampal fornix WTSI:vancollie increase in the number of cells of the hippocampal fornix 2018-04-10T18:30:41Z increased fornix cell count increased number of fornix cells MPheno.ontology MP:0020678 increased hippocampal fornix cell number MP:0020678 increase in the number of cells of the hippocampal fornix WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the hippocampal fornix 2018-04-10T18:36:07Z abnormal fornix total cell area abnormal total area of fornix cells MPheno.ontology MP:0020679 abnormal hippocampal fornix total cell area MP:0020679 any anomaly in the measurement of all areas of cells contained in the hippocampal fornix WTSI:vancollie decrease in the total area of all cells contained in the hippocampal fornix 2018-04-10T18:36:25Z decreased fornix total cell area decreased total area of fornix cells reduced fornix total cell area reduced total area of fornix cells MPheno.ontology MP:0020680 decreased hippocampal fornix total cell area MP:0020680 decrease in the total area of all cells contained in the hippocampal fornix WTSI:vancollie increase in the total area of all cells contained in the hippocampal fornix 2018-04-10T18:36:44Z increased fornix total cell area increased total area of fornix cells MPheno.ontology MP:0020681 increased hippocampal fornix total cell area MP:0020681 increase in the total area of all cells contained in the hippocampal fornix WTSI:vancollie any anomaly of the density of cells of the hippocampal fornix 2018-04-10T18:42:05Z abnormal density of fornix cells MPheno.ontology MP:0020682 abnormal hippocampal fornix cell density MP:0020682 any anomaly of the density of cells of the hippocampal fornix WTSI:vancollie decrease of the density of cells of the hippocampal fornix 2018-04-10T18:42:24Z decreased density of fornix cells decreased fornix cell density reduced density of fornix cells reduced fornix cell density MPheno.ontology MP:0020683 decreased hippocampal fornix cell density MP:0020683 decrease of the density of cells of the hippocampal fornix WTSI:vancollie increase of the density of cells of the hippocampal fornix 2018-04-10T18:42:33Z increased density of fornix cells increased fornix cell density MPheno.ontology MP:0020684 increased hippocampal fornix cell density MP:0020684 increase of the density of cells of the hippocampal fornix WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the hippocampal fornix divided by the total number of cells present in the hippocampal fornix 2018-04-10T18:47:46Z abnormal average area of fornix cells abnormal fornix average cell area MPheno.ontology MP:0020685 abnormal hippocampal fornix average cell area MP:0020685 any anomaly in the measurement of all areas of cells contained in the hippocampal fornix divided by the total number of cells present in the hippocampal fornix WTSI:vancollie decrease in the average of the total cell area contained in the hippocampal fornix 2018-04-10T18:48:02Z decreased average area of fornix cells decreased fornix average cell area reduced average area of fornix cells reduced fornix average cell area MPheno.ontology MP:0020686 decreased hippocampal fornix average cell area MP:0020686 decrease in the average of the total cell area contained in the hippocampal fornix WTSI:vancollie increase in the average of the total cell area contained in the hippocampal fornix 2018-04-10T18:55:42Z increased average area of fornix cells increased fornix average cell area MPheno.ontology MP:0020687 increased hippocampal fornix average cell area MP:0020687 increase in the average of the total cell area contained in the hippocampal fornix WTSI:vancollie any anomaly of the number of cells of the optic chiasm 2018-04-10T19:13:35Z abnormal number of optic chiasm cells abnormal optic chiasm cell count MPheno.ontology MP:0020688 abnormal optic chiasm cell number MP:0020688 any anomaly of the number of cells of the optic chiasm WTSI:vancollie decrease in the number of cells of the optic chiasm 2018-04-10T19:13:49Z decreased number of optic chiasm cells decreased optic chiasm cell count reduced number of optic chiasm cells reduced optic chiasm cell count MPheno.ontology MP:0020689 decreased optic chiasm cell number MP:0020689 decrease in the number of cells of the optic chiasm WTSI:vancollie increase in the number of cells of the optic chiasm 2018-04-10T19:14:02Z increased number of optic chiasm cells increased optic chiasm cell count MPheno.ontology MP:0020690 increased optic chiasm cell number MP:0020690 increase in the number of cells of the optic chiasm WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the optic chiasm 2018-04-10T19:18:49Z abnormal total area of optic chiasm cells MPheno.ontology MP:0020691 abnormal optic chiasm total cell area MP:0020691 any anomaly in the measurement of all areas of cells contained in the optic chiasm WTSI:vancollie decrease in the total area of all cells contained in the optic chiasm 2018-04-10T19:19:00Z decreased total area of optic chiasm cells MPheno.ontology MP:0020692 decreased optic chiasm total cell area MP:0020692 decrease in the total area of all cells contained in the optic chiasm WTSI:vancollie increase in the total area of all cells contained in the optic chiasm 2018-04-10T19:19:10Z increased total area of optic chiasm cells MPheno.ontology MP:0020693 increased optic chiasm total cell area MP:0020693 increase in the total area of all cells contained in the optic chiasm WTSI:vancollie any anomaly of the density of cells of the optic chiasm 2018-04-10T19:23:50Z abnormal density of optic chiasm cells MPheno.ontology MP:0020694 abnormal optic chiasm cell density MP:0020694 any anomaly of the density of cells of the optic chiasm WTSI:vancollie decrease of the density of cells of the optic chiasm 2018-04-10T19:24:01Z decreased density of optic chiasm cells reduced density of optic chiasm cells reduced optic chiasm cell density MPheno.ontology MP:0020695 decreased optic chiasm cell density MP:0020695 decrease of the density of cells of the optic chiasm WTSI:vancollie increase of the density of cells of the optic chiasm 2018-04-10T19:24:11Z increased density of optic chiasm cells MPheno.ontology MP:0020696 increased optic chiasm cell density MP:0020696 increase of the density of cells of the optic chiasm WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the optic chiasm divided by the total number of cells present in the optic chiasm 2018-04-10T19:28:38Z abnormal average area of optic chiasm cells MPheno.ontology MP:0020697 abnormal optic chiasm average cell area MP:0020697 any anomaly in the measurement of all areas of cells contained in the optic chiasm divided by the total number of cells present in the optic chiasm WTSI:vancollie decrease in the average of the total cell area contained in the optic chiasm 2018-04-10T19:28:48Z decreased average area of optic chiasm cells reduced average area of optic chiasm cells reduced optic chiasm average cell area MPheno.ontology MP:0020698 decreased optic chiasm average cell area MP:0020698 decrease in the average of the total cell area contained in the optic chiasm WTSI:vancollie increase in the average of the total cell area contained in the optic chiasm 2018-04-10T19:28:57Z increased average area of optic chiasm cells MPheno.ontology MP:0020699 increased optic chiasm average cell area MP:0020699 increase in the average of the total cell area contained in the optic chiasm WTSI:vancollie any anomaly of the number of cells of the ventromedial hypothalamic nucleus 2018-04-10T19:50:05Z abnormal number of ventromedial hypothalamus cells abnormal ventromedial hypothalamus cell count MPheno.ontology MP:0020700 abnormal ventromedial hypothalamic nucleus cell number MP:0020700 any anomaly of the number of cells of the ventromedial hypothalamic nucleus WTSI:vancollie decrease in the number of cells of the ventromedial hypothalamic nucleus 2018-04-10T19:50:34Z decreased number of ventromedial hypothalamus cells decreased ventromedial hypothalamus cell count reduced number of ventromedial hypothalamus cells reduced ventromedial hypothalamus cell count MPheno.ontology MP:0020701 decreased ventromedial hypothalamic nucleus cell number MP:0020701 decrease in the number of cells of the ventromedial hypothalamic nucleus WTSI:vancollie increase in the number of cells of the ventromedial hypothalamic nucleus 2018-04-10T19:50:47Z increased number of ventromedial hypothalamus cells increased ventromedial hypothalamus cell count MPheno.ontology MP:0020702 increased ventromedial hypothalamic nucleus cell number MP:0020702 increase in the number of cells of the ventromedial hypothalamic nucleus WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the ventromedial hypothalamic nucleus 2018-04-10T19:57:03Z abnormal total area of ventromedial hypothalamus cells abnormal ventromedial hypothalamus total cell area MPheno.ontology MP:0020703 abnormal ventromedial hypothalamic nucleus total cell area MP:0020703 any anomaly in the measurement of all areas of cells contained in the ventromedial hypothalamic nucleus WTSI:vancollie decrease in the total area of all cells contained in the ventromedial hypothalamic nucleus 2018-04-10T19:57:26Z decreased total area of ventromedial hypothalamus cells decreased ventromedial hypothalamus total cell area MPheno.ontology MP:0020704 decreased ventromedial hypothalamic nucleus total cell area MP:0020704 decrease in the total area of all cells contained in the ventromedial hypothalamic nucleus WTSI:vancollie increase in the total area of all cells contained in the ventromedial hypothalamic nucleus 2018-04-10T19:57:40Z MPheno.ontology MP:0020705 increased ventromedial hypothalamic nucleus total cell area MP:0020705 increase in the total area of all cells contained in the ventromedial hypothalamic nucleus WTSI:vancollie any anomaly of the density of cells of the ventromedial hypothalamic nucleus 2018-04-10T20:02:37Z abnormal density of ventromedial hypothalamus cells abnormal ventromedial hypothalamus cell density MPheno.ontology MP:0020706 abnormal ventromedial hypothalamic nucleus cell density MP:0020706 any anomaly of the density of cells of the ventromedial hypothalamic nucleus WTSI:vancollie decrease of the density of cells of the ventromedial hypothalamic nucleus 2018-04-10T20:03:06Z decreased density of ventromedial hypothalamus cells decreased ventromedial hypothalamus cell density reduced density of ventromedial hypothalamus cells reduced ventromedial hypothalamus cell density MPheno.ontology MP:0020707 decreased ventromedial hypothalamic nucleus cell density MP:0020707 decrease of the density of cells of the ventromedial hypothalamic nucleus WTSI:vancollie increase of the density of cells of the ventromedial hypothalamic nucleus 2018-04-10T20:03:13Z increased density of ventromedial hypothalamus cells increased ventromedial hypothalamus cell density MPheno.ontology MP:0020708 increased ventromedial hypothalamic nucleus cell density MP:0020708 increase of the density of cells of the ventromedial hypothalamic nucleus WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the ventromedial hypothalamic nucleus divided by the total number of cells present in the ventromedial hypothalamic nucleus 2018-04-10T20:08:23Z abnormal average area of ventromedial hypothalamus cells abnormal ventromedial hypothalamus average cell area MPheno.ontology MP:0020709 abnormal ventromedial hypothalamic nucleus average cell area MP:0020709 any anomaly in the measurement of all areas of cells contained in the ventromedial hypothalamic nucleus divided by the total number of cells present in the ventromedial hypothalamic nucleus WTSI:vancollie decrease in the average of the total cell area contained in the ventromedial hypothalamic nucleus 2018-04-10T20:08:43Z decreased average area of ventromedial hypothalamus cells decreased ventromedial hypothalamus average cell area reduced average area of ventromedial hypothalamus cells reduced ventromedial hypothalamus average cell area MPheno.ontology MP:0020710 decreased ventromedial hypothalamic nucleus average cell area MP:0020710 decrease in the average of the total cell area contained in the ventromedial hypothalamic nucleus WTSI:vancollie increase in the average of the total cell area contained in the ventromedial hypothalamic nucleus 2018-04-10T20:09:07Z increased average area of ventromedial hypothalamus cells increased ventromedial hypothalamus average cell area MPheno.ontology MP:0020711 increased ventromedial hypothalamic nucleus average cell area MP:0020711 increase in the average of the total cell area contained in the ventromedial hypothalamic nucleus WTSI:vancollie any anomaly of the number of cells of the pontine nuclei 2018-04-10T20:25:55Z abnormal number of pontine nuclei cells abnormal pontine nuclei cell count MPheno.ontology MP:0020712 abnormal pontine nuclei cell number MP:0020712 any anomaly of the number of cells of the pontine nuclei WTSI:vancollie decrease in the number of cells of the pontine nuclei 2018-04-10T20:26:18Z decreased number of pontine nuclei cells decreased pontine nuclei cell count reduced number of pontine nuclei cells reduced pontine nuclei cell count MPheno.ontology MP:0020713 decreased pontine nuclei cell number MP:0020713 decrease in the number of cells of the pontine nuclei WTSI:vancollie increase in the number of cells of the pontine nuclei 2018-04-10T20:26:29Z increased number of pontine nuclei cells increased pontine nuclei cell count MPheno.ontology MP:0020714 increased pontine nuclei cell number MP:0020714 increase in the number of cells of the pontine nuclei WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the pontine nuclei 2018-04-10T20:33:14Z abnormal total area of pontine nuclei cells MPheno.ontology MP:0020715 abnormal pontine nuclei total cell area MP:0020715 any anomaly in the measurement of all areas of cells contained in the pontine nuclei WTSI:vancollie decrease in the total area of all cells contained in the pontine nuclei 2018-04-10T20:33:23Z decreased total area of pontine nuclei cells reduced total area of pontine nuclei cells MPheno.ontology MP:0020716 decreased pontine nuclei total cell area MP:0020716 decrease in the total area of all cells contained in the pontine nuclei WTSI:vancollie increase in the total area of all cells contained in the pontine nuclei 2018-04-10T20:33:32Z increased total area of pontine nuclei cells MPheno.ontology MP:0020717 increased pontine nuclei total cell area MP:0020717 increase in the total area of all cells contained in the pontine nuclei WTSI:vancollie any anomaly of the density of cells of the pontine nuclei 2018-04-10T20:38:30Z abnormal density of pontine nuclei cells MPheno.ontology MP:0020718 abnormal pontine nuclei cell density MP:0020718 any anomaly of the density of cells of the pontine nuclei WTSI:vancollie decrease of the density of cells of the pontine nuclei 2018-04-10T20:38:40Z decreased density of pontine nuclei cells reduced density of pontine nuclei cells reduced pontine nuclei cell density MPheno.ontology MP:0020719 decreased pontine nuclei cell density MP:0020719 decrease of the density of cells of the pontine nuclei WTSI:vancollie increase of the density of cells of the pontine nuclei 2018-04-10T20:38:50Z increased density of pontine nuclei cells MPheno.ontology MP:0020720 increased pontine nuclei cell density MP:0020720 increase of the density of cells of the pontine nuclei WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the pontine nuclei divided by the total number of cells present in the pontine nuclei 2018-04-10T20:43:49Z abnormal average area of pontine nuclei cells MPheno.ontology MP:0020721 abnormal pontine nuclei average cell area MP:0020721 any anomaly in the measurement of all areas of cells contained in the pontine nuclei divided by the total number of cells present in the pontine nuclei WTSI:vancollie decrease in the average of the total cell area contained in the pontine nuclei 2018-04-10T20:44:01Z decreased average area of pontine nuclei cells reduced average area of pontine nuclei cells reduced pontine nuclei average cell area MPheno.ontology MP:0020722 decreased pontine nuclei average cell area MP:0020722 decrease in the average of the total cell area contained in the pontine nuclei WTSI:vancollie increase in the average of the total cell area contained in the pontine nuclei 2018-04-10T20:44:13Z increased average area of pontine nuclei cells MPheno.ontology MP:0020723 increased pontine nuclei average cell area MP:0020723 increase in the average of the total cell area contained in the pontine nuclei WTSI:vancollie increased thickness of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells 2018-05-15T15:47:44Z increased retina inner nuclear layer thickness increased retinal INL thickness increased retinal inner nuclear layer thickness thick retinal inner nuclear layer MPheno.ontology MP:0020724 thick retina inner nuclear layer MP:0020724 increased thickness of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells https://orcid.org/0000-0003-4606-0597 any anomaly of the number of cells of the substantia nigra 2018-05-16T14:30:03Z abnormal number of substantia nigra cells abnormal substantia nigra cell count MPheno.ontology MP:0020725 abnormal substantia nigra cell number MP:0020725 any anomaly of the number of cells of the substantia nigra WTSI:vancollie decrease of the number of cells of the substantia nigra 2018-05-16T14:32:19Z decreased number of substantia nigra cells decreased substantia nigra cell count reduced number of substantia nigra cells reduced substantia nigra cell count MPheno.ontology MP:0020726 decreased substantia nigra cell number MP:0020726 decrease of the number of cells of the substantia nigra WTSI:vancollie increase of the number of cells of the substantia nigra 2018-05-16T14:32:31Z elevated substantia nigra cell count increased number of substantia nigra cells increased substantia nigra cell count MPheno.ontology MP:0020727 increased substantia nigra cell number MP:0020727 increase of the number of cells of the substantia nigra WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the substantia nigra 2018-05-16T14:36:37Z MPheno.ontology MP:0020728 abnormal substantia nigra total cell area MP:0020728 any anomaly in the measurement of all areas of cells contained in the substantia nigra WTSI:vancollie decrease in the total area of all cells contained in the substantia nigra 2018-05-16T14:36:57Z decreased total area of substantia nigra cells reduced substantia nigra total cell area reduced total area of substantia nigra cells MPheno.ontology MP:0020729 decreased substantia nigra total cell area MP:0020729 decrease in the total area of all cells contained in the substantia nigra WTSI:vancollie increase in the total area of all cells contained in the substantia nigra 2018-05-16T14:37:07Z elevated substantia nigra total cell area elevated total area of substantia nigra cells increased total area of substantia nigra cells MPheno.ontology MP:0020730 increased substantia nigra total cell area MP:0020730 increase in the total area of all cells contained in the substantia nigra WTSI:vancollie any anomaly of the density of cells of the substantia nigra 2018-05-16T14:42:09Z abnormal density of substantia nigra cells MPheno.ontology MP:0020731 abnormal substantia nigra cell density MP:0020731 any anomaly of the density of cells of the substantia nigra WTSI:vancollie decrease of the density of cells of the substantia nigra 2018-05-16T14:42:21Z decreased density of substantia nigra cells reduced density of substantia nigra cells reduced substantia nigra cell density MPheno.ontology MP:0020732 decreased substantia nigra cell density MP:0020732 decrease of the density of cells of the substantia nigra WTSI:vancollie increase of the density of cells of the substantia nigra 2018-05-16T14:42:31Z increased density of substantia nigra cells MPheno.ontology MP:0020733 increased substantia nigra cell density MP:0020733 increase of the density of cells of the substantia nigra WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the substantia nigra divided by the total number of cells present in the substantia nigra 2018-05-16T14:47:28Z abnormal average area of substantia nigra cells MPheno.ontology MP:0020734 abnormal substantia nigra average cell area MP:0020734 any anomaly in the measurement of all areas of cells contained in the substantia nigra divided by the total number of cells present in the substantia nigra WTSI:vancollie decrease in the measurement of all areas of cells contained in the substantia nigra divided by the total number of cells present in the substantia nigra 2018-05-16T14:47:42Z decreased average area of substantia nigra cells reduced average area of substantia nigra cells reduced substantia nigra average cell area MPheno.ontology MP:0020735 decreased substantia nigra average cell area MP:0020735 decrease in the measurement of all areas of cells contained in the substantia nigra divided by the total number of cells present in the substantia nigra WTSI:vancollie increase in the measurement of all areas of cells contained in the substantia nigra divided by the total number of cells present in the substantia nigra 2018-05-16T14:47:53Z elevated average area of substantia nigra cells elevated substantia nigra average cell area increased average area of substantia nigra cells MPheno.ontology MP:0020736 increased substantia nigra average cell area MP:0020736 increase in the measurement of all areas of cells contained in the substantia nigra divided by the total number of cells present in the substantia nigra WTSI:vancollie any anomaly of the number of cells of the pontocerebellar fibers 2018-05-16T15:02:36Z abnormal fiber of pons cell count abnormal fibrae pontocerebellaris cell count abnormal fibre of pons cell count abnormal number of pontocerebellar fibers cells abnormal pontine crossing tract cell count abnormal pontocerebellar fibers cell count abnormal pontocerebellar tract cell count abnormal tractus pontocerebellaris cell count MPheno.ontology MP:0020737 abnormal pontocerebellar fibers cell number MP:0020737 any anomaly of the number of cells of the pontocerebellar fibers WTSI:vancollie decrease of the number of cells of the pontocerebellar fibers 2018-05-16T15:02:51Z decreased fiber of pons cell count decreased fibrae pontocerebellaris cell count decreased fibre of pons cell count decreased pontine crossing tract cell count decreased pontocerebellar fibers cell count decreased pontocerebellar tract cell count decreased tractus pontocerebellaris cell count reduced fiber of pons cell count reduced fibrae pontocerebellaris cell count reduced fibre of pons cell count reduced pontine crossing tract cell count reduced pontocerebellar tract cell count reduced tractus pontocerebellaris cell count MPheno.ontology MP:0020738 decreased pontocerebellar fibers cell number MP:0020738 decrease of the number of cells of the pontocerebellar fibers WTSI:vancollie increase of the number of cells of the pontocerebellar fibers 2018-05-16T15:03:05Z increased fiber of pons cell count increased fibrae pontocerebellaris cell count increased fibre of pons cell count increased pontine crossing tract cell count increased pontocerebellar fibers cell count increased pontocerebellar tract cell count increased tractus pontocerebellaris cell count MPheno.ontology MP:0020739 increased pontocerebellar fibers cell number MP:0020739 increase of the number of cells of the pontocerebellar fibers WTSI:vancollie any anomaly of the total area of cells of the pontocerebellar fibers 2018-05-16T15:15:08Z abnormal fiber of pons total cell area abnormal fibrae pontocerebellaris total cell area abnormal fibre of pons total cell area abnormal pontine crossing tract total cell area abnormal pontocerebellar tract cell area abnormal total area of pontocerebellar fiber cells abnormal tractus pontocerebellaris cell area MPheno.ontology MP:0020740 abnormal pontocerebellar fibers total cell area MP:0020740 any anomaly of the total area of cells of the pontocerebellar fibers WTSI:vancollie decrease of the total area of cells of the pontocerebellar fibers 2018-05-16T15:15:20Z decreased fiber of pons total cell area decreased fibrae pontocerebellaris total cell area decreased fibre of pons total cell area decreased pontine crossing tract total cell area decreased pontocerebellar tract total cell area decreased tractus pontocerebellaris total cell area reduced fiber of pons total cell area reduced fibrae pontocerebellaris total cell area reduced fibre of pons total cell area reduced pontine crossing tract total cell area reduced pontocerebellar tract total cell area reduced tractus pontocerebellaris total cell area MPheno.ontology MP:0020741 decreased pontocerebellar fibers total cell area MP:0020741 decrease of the total area of cells of the pontocerebellar fibers WTSI:vancollie increase of the total area of cells of the pontocerebellar fibers 2018-05-16T15:15:32Z increased fiber of pons total cell area increased fibrae pontocerebellaris total cell area increased fibre of pons total cell area increased pontine crossing tract total cell area increased pontocerebellar tract total cell area increased tractus pontocerebellaris total cell area MPheno.ontology MP:0020742 increased pontocerebellar fibers total cell area MP:0020742 increase of the total area of cells of the pontocerebellar fibers WTSI:vancollie any anomaly of the density of cells of the pontocerebellar fibers 2018-05-16T15:27:51Z abnormal density of pontocerebellar fiber cells abnormal fiber of pons cell density abnormal fibrae pontocerebellaris cell density abnormal fibre of pons cell density abnormal pontine crossing tract cell density abnormal pontocerebellar tract cell density abnormal tractus pontocerebellaris cell density MPheno.ontology MP:0020743 abnormal pontocerebellar fibers cell density MP:0020743 any anomaly of the density of cells of the pontocerebellar fibers WTSI:vancollie decrease of the density of cells of the pontocerebellar fibers 2018-05-16T15:28:04Z decreased fiber of pons cell density decreased fibrae pontocerebellaris cell density decreased fibre of pons cell density decreased pontine crossing tract cell density decreased pontocerebellar tract cell density decreased tractus pontocerebellaris cell density reduced fiber of pons cell density reduced fibrae pontocerebellaris cell density reduced fibre of pons cell density reduced pontine crossing tract cell density reduced pontocerebellar tract cell density reduced tractus pontocerebellaris cell density MPheno.ontology MP:0020744 decreased pontocerebellar fibers cell density MP:0020744 decrease of the density of cells of the pontocerebellar fibers WTSI:vancollie increase of the density of cells of the pontocerebellar fibers 2018-05-16T15:28:16Z increased fiber of pons cell density increased fibrae pontocerebellaris cell density increased fibre of pons cell density increased pontine crossing tract cell density increased pontocerebellar tract cell density increased tractus pontocerebellaris cell density MPheno.ontology MP:0020745 increased pontocerebellar fibers cell density MP:0020745 increase of the density of cells of the pontocerebellar fibers WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the pontocerebellar fibers divided by the total number of cells present in the pontocerebellar fibers 2018-05-16T15:38:30Z abnormal fiber of pons average cell area abnormal fibrae pontocerebellaris average cell area abnormal fibre of pons average cell area abnormal pontine crossing tract average cell area abnormal pontocerebellar tract average cell area abnormal tractus pontocerebellaris average cell area MPheno.ontology MP:0020746 abnormal pontocerebellar fibers average cell area MP:0020746 any anomaly in the measurement of all areas of cells contained in the pontocerebellar fibers divided by the total number of cells present in the pontocerebellar fibers WTSI:vancollie decrease in the measurement of all areas of cells contained in the pontocerebellar fibers divided by the total number of cells present in the pontocerebellar fibers 2018-05-16T15:38:43Z decreased fiber of pons average cell area decreased fibrae pontocerebellaris average cell area decreased fibre of pons average cell area decreased pontine crossing tract average cell area decreased pontocerebellar tract average cell area decreased tractus pontocerebellaris average cell area reduced fiber of pons average cell area reduced fibrae pontocerebellaris average cell area reduced fibre of pons average cell area reduced pontine crossing tract average cell area reduced pontocerebellar tract average cell area reduced tractus pontocerebellaris average cell area MPheno.ontology MP:0020747 decreased pontocerebellar fibers average cell area MP:0020747 decrease in the measurement of all areas of cells contained in the pontocerebellar fibers divided by the total number of cells present in the pontocerebellar fibers WTSI:vancollie increase in the measurement of all areas of cells contained in the pontocerebellar fibers divided by the total number of cells present in the pontocerebellar fibers 2018-05-16T15:38:55Z increased fiber of pons average cell area increased fibrae pontocerebellaris average cell area increased fibre of pons average cell area increased pontine crossing tract average cell area increased pontocerebellar tract average cell area increased tractus pontocerebellaris average cell area MPheno.ontology MP:0020748 increased pontocerebellar fibers average cell area MP:0020748 increase in the measurement of all areas of cells contained in the pontocerebellar fibers divided by the total number of cells present in the pontocerebellar fibers WTSI:vancollie any structural anomaly of the thick belt of cortex encircling the corpus callosum that responsible for producing emotional responses to physical sensations of pain and for cognitive control 2018-05-16T18:59:11Z MPheno.ontology MP:0020749 abnormal cingulate cortex morphology MP:0020749 any structural anomaly of the thick belt of cortex encircling the corpus callosum that responsible for producing emotional responses to physical sensations of pain and for cognitive control PMID:21331082 https://orcid.org/0000-0003-3691-0324 any anomaly of the number of cells of the cingulate cortex 2018-05-16T19:27:08Z abnormal cingulate cortex cell count abnormal number of cingulate cortex cells MPheno.ontology MP:0020750 abnormal cingulate cortex cell number MP:0020750 any anomaly of the number of cells of the cingulate cortex WTSI:vancollie a decrease of the number of cells of the cingulate cortex 2018-05-16T19:30:06Z decreased cingulate cortex cell count decreased number of cingulate cortex cells reduced cingulate cortex cell count reduced cingulate cortex cell number reduced number of cingulate cortex cells MPheno.ontology MP:0020751 decreased cingulate cortex cell number MP:0020751 a decrease of the number of cells of the cingulate cortex WTSI:vancollie an increase of the number of cells of the cingulate cortex 2018-05-16T19:30:18Z increased cingulate cortex cell count increased number of cingulate cortex cells MPheno.ontology MP:0020752 increased cingulate cortex cell number MP:0020752 an increase of the number of cells of the cingulate cortex WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the cingulate cortex 2018-05-16T19:42:32Z abnormal total area of cingulate cortex cells MPheno.ontology MP:0020753 abnormal cingulate cortex total cell area MP:0020753 any anomaly in the measurement of all areas of cells contained in the cingulate cortex WTSI:vancollie decrease in the measurement of all areas of cells contained in the cingulate cortex 2018-05-16T19:42:41Z decreased total area of cingulate cortex cells reduced cingulate cortex total cell area reduced total area of cingulate cortex cells MPheno.ontology MP:0020754 decreased cingulate cortex total cell area MP:0020754 decrease in the measurement of all areas of cells contained in the cingulate cortex WTSI:vancollie increase in the measurement of all areas of cells contained in the cingulate cortex 2018-05-16T19:42:51Z increased total area of cingulate cortex cells MPheno.ontology MP:0020755 increased cingulate cortex total cell area MP:0020755 increase in the measurement of all areas of cells contained in the cingulate cortex WTSI:vancollie any anomaly of the density of cells of the cingulate cortex 2018-05-16T19:48:03Z MPheno.ontology MP:0020756 abnormal cingulate cortex cell density MP:0020756 any anomaly of the density of cells of the cingulate cortex WTSI:vancollie decrease of the density of cells of the cingulate cortex 2018-05-16T19:48:13Z MPheno.ontology MP:0020757 decreased cingulate cortex cell density MP:0020757 decrease of the density of cells of the cingulate cortex WTSI:vancollie increase of the density of cells of the cingulate cortex 2018-05-16T19:48:23Z MPheno.ontology MP:0020758 increased cingulate cortex cell density MP:0020758 increase of the density of cells of the cingulate cortex WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the cingulate cortex divided by the total number of cells present in cingulate cortex 2018-05-16T19:52:03Z abnormal average area of cingulate cortex cells MPheno.ontology MP:0020759 abnormal cingulate cortex average cell area MP:0020759 any anomaly in the measurement of all areas of cells contained in the cingulate cortex divided by the total number of cells present in cingulate cortex WTSI:vancollie decrease in the measurement of all areas of cells contained in the cingulate cortex divided by the total number of cells present in cingulate cortex 2018-05-16T19:52:14Z decreased average area of cingulate cortex cells reduced average area of cingulate cortex cells reduced cingulate cortex average cell area MPheno.ontology MP:0020760 decreased cingulate cortex average cell area MP:0020760 decrease in the measurement of all areas of cells contained in the cingulate cortex divided by the total number of cells present in cingulate cortex WTSI:vancollie increase in the measurement of all areas of cells contained in the cingulate cortex divided by the total number of cells present in cingulate cortex 2018-05-16T19:52:25Z increased average area of cingulate cortex cells MPheno.ontology MP:0020761 increased cingulate cortex average cell area MP:0020761 increase in the measurement of all areas of cells contained in the cingulate cortex divided by the total number of cells present in cingulate cortex WTSI:vancollie the dorsal division of the subiculum; thought to play a role in the processing of spatial, mnemonic and movement information 2018-05-17T14:48:08Z MPheno.ontology MP:0020762 abnormal dorsal subiculum morphology MP:0020762 the dorsal division of the subiculum; thought to play a role in the processing of spatial, mnemonic and movement information PMID:16185252 PMID:17317229 any anomaly of the number of cells of the dorsal subiculum 2018-05-17T15:00:04Z abnormal dorsal subiculum cell count abnormal number of dorsal subiculum cells MPheno.ontology MP:0020763 abnormal dorsal subiculum cell number MP:0020763 any anomaly of the number of cells of the dorsal subiculum WTSI:vancollie decrease in the number of cells of the dorsal subiculum 2018-05-17T15:01:41Z decreased dorsal subiculum cell count decreased number of dorsal subiculum cells reduced dorsal subiculum cell count reduced dorsal subiculum cell number reduced number of dorsal subiculum cells MPheno.ontology MP:0020764 decreased dorsal subiculum cell number MP:0020764 decrease in the number of cells of the dorsal subiculum WTSI:vancollie increase in the number of cells of the dorsal subiculum 2018-05-17T15:01:54Z increased dorsal subiculum cell count increased number of dorsal subiculum cells MPheno.ontology MP:0020765 increased dorsal subiculum cell number MP:0020765 increase in the number of cells of the dorsal subiculum WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the dorsal subiculum 2018-05-17T15:05:52Z abnormal total area of dorsal subiculum cells MPheno.ontology MP:0020766 abnormal dorsal subiculum total cell area MP:0020766 any anomaly in the measurement of all areas of cells contained in the dorsal subiculum WTSI:vancollie decrease in the total area of all cells contained in the dorsal subiculum 2018-05-17T15:06:05Z decreased total area of dorsal subiculum cells reduced dorsal subiculum total cell area reduced total area of dorsal subiculum cells MPheno.ontology MP:0020767 decreased dorsal subiculum total cell area MP:0020767 decrease in the total area of all cells contained in the dorsal subiculum WTSI:vancollie increase in the total area of all cells contained in the dorsal subiculum 2018-05-17T15:06:18Z increased total area of dorsal subiculum cells MPheno.ontology MP:0020768 increased dorsal subiculum total cell area MP:0020768 increase in the total area of all cells contained in the dorsal subiculum WTSI:vancollie any anomaly of the density of cells of the dorsal subiculum 2018-05-17T15:11:52Z abnormal density of dorsal subiculum cells MPheno.ontology MP:0020769 abnormal dorsal subiculum cell density MP:0020769 any anomaly of the density of cells of the dorsal subiculum WTSI:vancollie decrease of the density of cells of the dorsal subiculum 2018-05-17T15:12:02Z decreased density of dorsal subiculum cells reduced density of dorsal subiculum cells reduced dorsal subiculum cell density MPheno.ontology MP:0020770 decreased dorsal subiculum cell density MP:0020770 decrease of the density of cells of the dorsal subiculum WTSI:vancollie increase of the density of cells of the dorsal subiculum 2018-05-17T15:12:15Z MPheno.ontology MP:0020771 increased dorsal subiculum cell density MP:0020771 increase of the density of cells of the dorsal subiculum WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the dorsal subiculum divided by the total number of cells present in the dorsal subiculum 2018-05-17T15:23:41Z abnormal average area of dorsal subiculum cells MPheno.ontology MP:0020772 abnormal dorsal subiculum average cell area MP:0020772 any anomaly in the measurement of all areas of cells contained in the dorsal subiculum divided by the total number of cells present in the dorsal subiculum WTSI:vancollie decrease in the average of the total cell area contained in the dorsal subiculum 2018-05-17T15:23:50Z decreased average area of dorsal subiculum cells reduced average area of dorsal subiculum cells reduced dorsal subiculum average cell area MPheno.ontology MP:0020773 decreased dorsal subiculum average cell area MP:0020773 decrease in the average of the total cell area contained in the dorsal subiculum WTSI:vancollie increase in the average of the total cell area contained in the dorsal subiculum 2018-05-17T15:24:01Z increased average area of dorsal subiculum cells MPheno.ontology MP:0020774 increased dorsal subiculum average cell area MP:0020774 increase in the average of the total cell area contained in the dorsal subiculum WTSI:vancollie any anomaly of the number of cells of the inferior colliculus 2018-05-17T15:44:39Z abnormal inferior colliculus cell count abnormal number of inferior colliculus cells MPheno.ontology MP:0020775 abnormal inferior colliculus cell number MP:0020775 any anomaly of the number of cells of the inferior colliculus WTSI:vancollie decrease in the number of cells of the inferior colliculus 2018-05-17T15:44:53Z decreased inferior colliculus cell count decreased number of inferior colliculus cells reduced inferior colliculus cell count reduced number of inferior colliculus cells MPheno.ontology MP:0020776 decreased inferior colliculus cell number MP:0020776 decrease in the number of cells of the inferior colliculus WTSI:vancollie increase in the number of cells of the inferior colliculus 2018-05-17T15:45:05Z increased inferior colliculus cell count increased number of inferior colliculus cells MPheno.ontology MP:0020777 increased inferior colliculus cell number MP:0020777 increase in the number of cells of the inferior colliculus WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the inferior colliculus 2018-05-17T15:50:04Z MPheno.ontology MP:0020778 abnormal inferior colliculus total cell area MP:0020778 any anomaly in the measurement of all areas of cells contained in the inferior colliculus WTSI:vancollie decrease in the total area of all cells contained in the inferior colliculus 2018-05-17T15:50:13Z MPheno.ontology MP:0020779 decreased inferior colliculus total cell area MP:0020779 decrease in the total area of all cells contained in the inferior colliculus WTSI:vancollie increase in the total area of all cells contained in the inferior colliculus 2018-05-17T15:50:22Z MPheno.ontology MP:0020780 increased inferior colliculus total cell area MP:0020780 increase in the total area of all cells contained in the inferior colliculus WTSI:vancollie any anomaly of the density of cells of the inferior colliculus 2018-05-17T15:54:07Z abnormal density of inferior colliculus cells MPheno.ontology MP:0020781 abnormal inferior colliculus cell density MP:0020781 any anomaly of the density of cells of the inferior colliculus WTSI:vancollie decrease of the density of cells of the inferior colliculus 2018-05-17T15:54:17Z decreased density of inferior colliculus cells reduced density of inferior colliculus cells reduced inferior colliculus cell density MPheno.ontology MP:0020782 decreased inferior colliculus cell density MP:0020782 decrease of the density of cells of the inferior colliculus WTSI:vancollie increase of the density of cells of the inferior colliculus 2018-05-17T15:54:27Z increased density of inferior colliculus cells MPheno.ontology MP:0020783 increased inferior colliculus cell density MP:0020783 increase of the density of cells of the inferior colliculus WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the inferior colliculus divided by the total number of cells present in the inferior colliculus 2018-05-17T15:58:24Z abnormal average area of inferior colliculus cells MPheno.ontology MP:0020784 abnormal inferior colliculus average cell area MP:0020784 any anomaly in the measurement of all areas of cells contained in the inferior colliculus divided by the total number of cells present in the inferior colliculus WTSI:vancollie decrease in the average of the total cell area contained in the inferior colliculus 2018-05-17T15:58:35Z decreased average area of inferior colliculus cells reduced average area of inferior colliculus cells reduced inferior colliculus average cell area MPheno.ontology MP:0020785 decreased inferior colliculus average cell area MP:0020785 decrease in the average of the total cell area contained in the inferior colliculus WTSI:vancollie increase in the average of the total cell area contained in the inferior colliculus 2018-05-17T15:58:46Z increased average area of inferior colliculus cells MPheno.ontology MP:0020786 increased inferior colliculus average cell area MP:0020786 increase in the average of the total cell area contained in the inferior colliculus WTSI:vancollie any anomaly of the number of cells of the superior colliculus 2018-05-17T16:48:13Z abnormal superior colliculus cell count MPheno.ontology MP:0020787 abnormal superior colliculus cell number MP:0020787 any anomaly of the number of cells of the superior colliculus WTSI:vancollie decrease in the number of cells of the superior colliculus 2018-05-17T16:48:27Z decreased number of superior colliculus cells decreased superior colliculus cell count reduced number of superior colliculus cells reduced superior colliculus cell count MPheno.ontology MP:0020788 decreased superior colliculus cell number MP:0020788 decrease in the number of cells of the superior colliculus WTSI:vancollie increase in the number of cells of the superior colliculus 2018-05-17T16:48:41Z increased number of superior colliculus cells increased superior colliculus cell count MPheno.ontology MP:0020789 increased superior colliculus cell number MP:0020789 increase in the number of cells of the superior colliculus WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the superior colliculus 2018-05-17T16:54:25Z abnormal total area of superior colliculus cells MPheno.ontology MP:0020790 abnormal superior colliculus total cell area MP:0020790 any anomaly in the measurement of all areas of cells contained in the superior colliculus WTSI:vancollie decrease in the total area of all cells contained in the superior colliculus 2018-05-17T16:54:35Z decreased total area of superior colliculus cells reduced superior colliculus total cell area reduced total area of superior colliculus cells MPheno.ontology MP:0020791 decreased superior colliculus total cell area MP:0020791 decrease in the total area of all cells contained in the superior colliculus WTSI:vancollie increase in the total area of all cells contained in the superior colliculus 2018-05-17T16:54:48Z increased total area of superior colliculus cells MPheno.ontology MP:0020792 increased superior colliculus total cell area MP:0020792 increase in the total area of all cells contained in the superior colliculus WTSI:vancollie any anomaly of the density of cells of the superior colliculus 2018-05-17T16:59:34Z abnormal density of superior colliculus cells MPheno.ontology MP:0020793 abnormal superior colliculus cell density MP:0020793 any anomaly of the density of cells of the superior colliculus WTSI:vancollie decrease of the density of cells of the superior colliculus 2018-05-17T16:59:44Z decreased density of superior colliculus cells reduced density of superior colliculus cells reduced superior colliculus cell density MPheno.ontology MP:0020794 decreased superior colliculus cell density MP:0020794 decrease of the density of cells of the superior colliculus WTSI:vancollie increase of the density of cells of the superior colliculus 2018-05-17T16:59:53Z increased density of superior colliculus cells MPheno.ontology MP:0020795 increased superior colliculus cell density MP:0020795 increase of the density of cells of the superior colliculus WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the superior colliculus divided by the total number of cells present in the superior colliculus 2018-05-17T17:05:29Z abnormal average area of superior colliculus cells MPheno.ontology MP:0020796 abnormal superior colliculus average cell area MP:0020796 any anomaly in the measurement of all areas of cells contained in the superior colliculus divided by the total number of cells present in the superior colliculus WTSI:vancollie decrease in the average of the total cell area contained in the superior colliculus 2018-05-17T17:05:38Z decreased average area of superior colliculus cells reduced average area of superior colliculus cells reduced superior colliculus average cell area MPheno.ontology MP:0020797 decreased superior colliculus average cell area MP:0020797 decrease in the average of the total cell area contained in the superior colliculus WTSI:vancollie increase in the average of the total cell area contained in the superior colliculus 2018-05-17T17:05:47Z increased average area of superior colliculus cells MPheno.ontology MP:0020798 increased superior colliculus average cell area MP:0020798 increase in the average of the total cell area contained in the superior colliculus WTSI:vancollie any anomaly of the number of cells of the cerebellum fastigial nucleus 2018-05-17T17:25:59Z abnormal medial cerebellar nucleus cell count abnormal medial cerebellar nucleus cell number abnormal number of medial cerebellar nucleus cells MPheno.ontology MP:0020799 abnormal cerebellum fastigial nucleus cell number MP:0020799 any anomaly of the number of cells of the cerebellum fastigial nucleus WTSI:vancollie increase in the number of cells of the cerebellum fastigial nucleus 2018-05-17T17:26:24Z increased medial cerebellar nucleus cell count increased medial cerebellar nucleus cell number increased number of medial cerebellar nucleus cells MPheno.ontology MP:0020800 increased cerebellum fastigial nucleus cell number MP:0020800 increase in the number of cells of the cerebellum fastigial nucleus WTSI:vancollie decrease in the number of cells of the cerebellum fastigial nucleus 2018-05-17T17:26:40Z decreased medial cerebellar nucleus cell count decreased medial cerebellar nucleus cell number decreased number of medial cerebellar nucleus cells reduced medial cerebellar nucleus cell count reduced number of medial cerebellar nucleus cells MPheno.ontology MP:0020801 decreased cerebellum fastigial nucleus cell number MP:0020801 decrease in the number of cells of the cerebellum fastigial nucleus WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the cerebellum fastigial nucleus 2018-05-17T17:33:20Z abnormal medial cerebellar nucleus total cell area abnormal total area of medial cerebellar nucleus cells MPheno.ontology MP:0020802 abnormal cerebellum fastigial nucleus total cell area MP:0020802 any anomaly in the measurement of all areas of cells contained in the cerebellum fastigial nucleus WTSI:vancollie increase in the total area of all cells contained in the cerebellum fastigial nucleus 2018-05-17T17:33:29Z increased medial cerebellar nucleus total cell area increased total area of medial cerebellar nucleus cells MPheno.ontology MP:0020803 increased cerebellum fastigial nucleus total cell area MP:0020803 increase in the total area of all cells contained in the cerebellum fastigial nucleus WTSI:vancollie decrease in the total area of all cells contained in the cerebellum fastigial nucleus 2018-05-17T17:33:38Z decreased medial cerebellar nucleus total cell area decreased total area of medial cerebellar nucleus cells reduced medial cerebellar nucleus total cell area reduced total area of medial cerebellar nucleus cells MPheno.ontology MP:0020804 decreased cerebellum fastigial nucleus total cell area MP:0020804 decrease in the total area of all cells contained in the cerebellum fastigial nucleus WTSI:vancollie any anomaly of the density of cells of the cerebellum fastigial nucleus 2018-05-17T17:45:25Z abnormal density of medial cerebellar nucleus cells abnormal medial cerebellar nucleus cell density MPheno.ontology MP:0020805 abnormal cerebellum fastigial nucleus cell density MP:0020805 any anomaly of the density of cells of the cerebellum fastigial nucleus WTSI:vancollie increase of the density of cells of the cerebellum fastigial nucleus 2018-05-17T17:45:35Z MPheno.ontology MP:0020806 increased cerebellum fastigial nucleus cell density MP:0020806 increase of the density of cells of the cerebellum fastigial nucleus WTSI:vancollie decrease of the density of cells of the cerebellum fastigial nucleus 2018-05-17T17:45:43Z decreased density of medial cerebellar nucleus cells decreased medial cerebellar nucleus cell density reduced cerebellum fastigial nucleus cell density reduced density of medial cerebellar nucleus cells reduced medial cerebellar nucleus cell density MPheno.ontology MP:0020807 decreased cerebellum fastigial nucleus cell density MP:0020807 decrease of the density of cells of the cerebellum fastigial nucleus WTSI:vancollie any anomaly in the measurement of all areas of cells contained in the cerebellum fastigial nucleus divided by the total number of cells present in the cerebellum fastigial nucleus 2018-05-17T17:51:56Z abnormal average area of medial cerebellar nucleus cells abnormal medial cerebellar nucleus average cell area MPheno.ontology MP:0020808 abnormal cerebellum fastigial nucleus average cell area MP:0020808 any anomaly in the measurement of all areas of cells contained in the cerebellum fastigial nucleus divided by the total number of cells present in the cerebellum fastigial nucleus WTSI:vancollie increase in the average of the total cell area contained in the cerebellum fastigial nucleus 2018-05-17T17:52:06Z increased average area of medial cerebellar nucleus cells increased medial cerebellar nucleus average cell area MPheno.ontology MP:0020809 increased cerebellum fastigial nucleus average cell area MP:0020809 increase in the average of the total cell area contained in the cerebellum fastigial nucleus WTSI:vancollie decrease in the average of the total cell area contained in the cerebellum fastigial nucleus 2018-05-17T17:52:25Z decreased average area of medial cerebellar nucleus cells decreased medial cerebellar nucleus average cell area reduced average area of medial cerebellar nucleus cells reduced cerebellum fastigial nucleus average cell area reduced medial cerebellar nucleus average cell area MPheno.ontology MP:0020810 decreased cerebellum fastigial nucleus average cell area MP:0020810 decrease in the average of the total cell area contained in the cerebellum fastigial nucleus WTSI:vancollie deviation from the average range of photoreceptor outer segment size for an organism 2018-05-24T19:37:56Z MPheno.ontology MP:0020811 abnormal photoreceptor outer segment size MP:0020811 deviation from the average range of photoreceptor outer segment size for an organism https://orcid.org/0000-0003-4606-0597 increased length of the photoreceptor region that is rich in the visual pigment rhodopsin 2018-05-24T19:39:54Z elongated photoreceptor outer segment increased photoreceptor outer segment length MPheno.ontology MP:0020812 long photoreceptor outer segment MP:0020812 increased length of the photoreceptor region that is rich in the visual pigment rhodopsin https://orcid.org/0000-0003-3691-0324 any structural anomaly of the membranous stack located inside the photoreceptor outer segment, and containing densely packed molecules of the photoreceptor protein rhodopsin that traverse the lipid bilayer 2018-05-24T19:44:28Z abnormal photoreceptor outer segment disk membrane morphology MPheno.ontology MP:0020813 abnormal photoreceptor outer segment disc membrane morphology MP:0020813 any structural anomaly of the membranous stack located inside the photoreceptor outer segment, and containing densely packed molecules of the photoreceptor protein rhodopsin that traverse the lipid bilayer GO:0097381 any anomaly in the width of the cross-sectional distance that extends from one lateral edge of the photoreceptor outer segment through its center and to the opposite lateral edge 2018-05-24T19:48:41Z MPheno.ontology MP:0020814 abnormal photoreceptor outer segment diameter MP:0020814 any anomaly in the width of the cross-sectional distance that extends from one lateral edge of the photoreceptor outer segment through its center and to the opposite lateral edge https://orcid.org/0000-0003-4606-0597 deviation from the normal number of the photoreceptor outer segments 2018-05-24T19:56:05Z MPheno.ontology MP:0020815 abnormal photoreceptor outer segment number MP:0020815 deviation from the normal number of the photoreceptor outer segments https://orcid.org/0000-0003-4606-0597 decreased number of photoreceptor outer segments 2018-05-24T20:01:13Z reduced photoreceptor outer segment number MPheno.ontology MP:0020816 decreased photoreceptor outer segment number MP:0020816 increased number of photoreceptor outer segments 2018-05-24T20:01:22Z MPheno.ontology MP:0020817 increased photoreceptor outer segment number MP:0020817 abnormal position of the anterior cerebral artery in relation to other structures 2018-06-11T15:06:22Z MPheno.ontology MP:0020818 abnormal anterior cerebral artery topology MP:0020818 abnormal position of the anterior cerebral artery in relation to other structures https://orcid.org/0000-0003-4606-0597 abnormal position of the common carotid artery in relation to other structures 2018-06-11T15:10:01Z MPheno.ontology MP:0020819 abnormal common carotid artery topology MP:0020819 abnormal position of the common carotid artery in relation to other structures https://orcid.org/0000-0003-4606-0597 absence of a portion of the superior cerebellar artery 2018-06-11T15:18:17Z MPheno.ontology MP:0020820 absent segment of superior cerebellar artery MP:0020820 absence of a portion of the superior cerebellar artery https://orcid.org/0000-0003-4606-0597 abnormal position of the oculomotor nerve in relation to other structures 2018-06-11T15:38:13Z MPheno.ontology MP:0020821 abnormal oculomotor nerve topology MP:0020821 abnormal position of the oculomotor nerve in relation to other structures https://orcid.org/0000-0003-4606-0597 absence of all the muscles responsible for the movement of the jaws during mastication, including the masseter, temporal, and medial and lateral pterygoid muscles 2018-06-11T15:41:47Z MPheno.ontology MP:0020822 absent masticatory muscles MP:0020822 absence of all the muscles responsible for the movement of the jaws during mastication, including the masseter, temporal, and medial and lateral pterygoid muscles https://orcid.org/0000-0003-4606-0597 absence of the firm fibrocartilaginous joint in the median plane between the two opposing surfaces of the pubic bones 2018-06-11T15:44:42Z MPheno.ontology MP:0020823 absent pubic symphysis MP:0020823 absence of the firm fibrocartilaginous joint in the median plane between the two opposing surfaces of the pubic bones https://orcid.org/0000-0003-4606-0597 any anomaly in the texture of the testicular tissue 2018-06-11T15:47:55Z MPheno.ontology MP:0020824 abnormal testis tissue architecture MP:0020824 any anomaly in the texture of the testicular tissue https://orcid.org/0000-0003-4606-0597 a spleen located outside of its normal position 2018-06-11T15:51:39Z MPheno.ontology MP:0020825 ectopic spleen MP:0020825 a spleen located outside of its normal position https://orcid.org/0000-0003-4606-0597 greater than the expected incidence of a tumor derived from cells of the oculomotor nerve 2018-06-11T15:57:38Z increased oculomoter Schwannoma incidence MPheno.ontology MP:0020826 increased oculomotor nerve neuroma incidence MP:0020826 greater than the expected incidence of a tumor derived from cells of the oculomotor nerve https://orcid.org/0000-0003-4606-0597 presence of only one Mullerian duct instead of the usual 2 ducts 2018-06-11T16:03:31Z MPheno.ontology MP:0020827 single Mullerian duct MP:0020827 presence of only one Mullerian duct instead of the usual 2 ducts https://orcid.org/0000-0003-4606-0597 any anomaly in the path taken by a process from the nerve cell body to a target 2018-06-11T17:32:08Z abnormal nerve fiber course abnormal nerve fibre course MPheno.ontology MP:0020828 abnormal axon course MP:0020828 any anomaly in the path taken by a process from the nerve cell body to a target https://orcid.org/0000-0003-4606-0597 any anomaly in the texture of the forebrain tissue 2018-06-11T17:38:15Z MPheno.ontology MP:0020829 abnormal forebrain tissue architecture MP:0020829 any anomaly in the texture of the forebrain tissue https://orcid.org/0000-0003-4606-0597 any structural anomaly in an embryonic lymph sac that forms at the junction of the future internal jugular/anterior cardinals and subclavian veins 2018-06-22T14:47:21Z MPheno.ontology MP:0020830 abnormal jugular lymph sac morphology MP:0020830 any structural anomaly in an embryonic lymph sac that forms at the junction of the future internal jugular/anterior cardinals and subclavian veins UBERON:0011765 fewer than the expected number of jugular lymph sacs; typically there are two of these 2018-06-22T14:50:40Z absent jugular lymph sac single jugular lymph sac MPheno.ontology MP:0020831 decreased jugular lymph sac number MP:0020831 fewer than the expected number of jugular lymph sacs; typically there are two of these https://orcid.org/0000-0003-4606-0597 absence of both of the jugular lymph sacs 2018-06-22T14:53:35Z MPheno.ontology MP:0020832 absent jugular lymph sacs MP:0020832 absence of both of the jugular lymph sacs https://orcid.org/0000-0003-4606-0597 greater than the expected number of jugular lymph sacs; typically there are two of these 2018-06-22T14:57:18Z MPheno.ontology MP:0020833 increased jugular lymph sac number MP:0020833 greater than the expected number of jugular lymph sacs; typically there are two of these https://orcid.org/0000-0003-4606-0597 any anomaly in the chemical reactions and pathways involving citrulline, including metabolic, catabolic and biosynthetic processes 2018-06-22T15:14:00Z MPheno.ontology MP:0020834 abnormal citrulline metabolism MP:0020834 any anomaly in the chemical reactions and pathways involving citrulline, including metabolic, catabolic and biosynthetic processes PMID:16773471 RGD:sjwang aberrant concentration in the blood of citrulline, N5-carbamoyl-L-ornithine, an alpha amino acid not found in proteins 2018-06-22T15:21:26Z MPheno.ontology MP:0020835 abnormal circulating citrulline level MP:0020835 aberrant concentration in the blood of citrulline, N5-carbamoyl-L-ornithine, an alpha amino acid not found in proteins GO:0000052 RGD:sjwang increase in the amount per unit of blood of citrulline 2018-06-22T15:21:47Z elevated plasma citrulline increased plasma citrulline MPheno.ontology MP:0020836 increased circulating citrulline level MP:0020836 increase in the amount per unit of blood of citrulline RGD:sjwang reduction in the amount per unit of blood of citrulline 2018-06-22T15:22:07Z decreased plasma citrulline reduced plasma citrulline MPheno.ontology MP:0020837 decreased circulating citrulline level MP:0020837 reduction in the amount per unit of blood of citrulline RGD:sjwang higher than normal incidence of cancer characterized by rapid onset of abnormal leukocyte proliferation, manifesting as a severe bleeding disorder from coagulation abnormalities, and bone marrow infiltration of abnormal myelocytes 2018-06-22T15:53:30Z increased AML incidence increased ANLL incidence increased acute granulocytic leukemia incidence increased acute myeloblastic leukemia incidence increased acute myelogenous leukemia incidence increased acute nonlymphocytic leukemia incidence MPheno.ontology MP:0020838 increased acute myeloid leukemia incidence MP:0020838 higher than normal incidence of cancer characterized by rapid onset of abnormal leukocyte proliferation, manifesting as a severe bleeding disorder from coagulation abnormalities, and bone marrow infiltration of abnormal myelocytes https://orcid.org/0000-0002-4154-7358 higher than normal incidence of cancer characterized by rapid onset of abnormal leukocyte proliferation where the leukocytes are too immature to be able to be classified; manifesting as a severe bleeding disorder from coagulation abnormalities, and bone marrow infiltration of abnormal myelocytes 2018-06-22T16:00:23Z increased AUL incidence increased stem cell leukemia incidence MPheno.ontology MP:0020839 increased acute undifferentiated leukemia incidence MP:0020839 higher than normal incidence of cancer characterized by rapid onset of abnormal leukocyte proliferation where the leukocytes are too immature to be able to be classified; manifesting as a severe bleeding disorder from coagulation abnormalities, and bone marrow infiltration of abnormal myelocytes PMID:23583447 url:https://medical-dictionary.thefreedictionary.com/acute+undifferentiated+leukemia https://orcid.org/0000-0002-4154-7358 any structural anomaly of the round or oval neuroepithelial cells in the carotid body that contact other type I cells or capillaries and are capable of secreting a number of neurotransmitters 2018-07-02T15:23:37Z abnormal carotid body glomus cell morphology MPheno.ontology MP:0020840 abnormal type I cell of carotid body morphology MP:0020840 any structural anomaly of the round or oval neuroepithelial cells in the carotid body that contact other type I cells or capillaries and are capable of secreting a number of neurotransmitters CL:0002292 PMID:10846047 url:https://en.wikipedia.org/wiki/Glomus_cell any structural anomaly of the supporting cells of the carotid body that have characteristics of glial cells and with processes that envelope the junctions between glomus cells and nerve endings 2018-07-02T15:23:58Z abnormal carotid body sustentacular cell morphology MPheno.ontology MP:0020841 abnormal supporting cell of carotid body morphology MP:0020841 any structural anomaly of the supporting cells of the carotid body that have characteristics of glial cells and with processes that envelope the junctions between glomus cells and nerve endings CL:0002256 PMID:10846047 any functional anomaly of the supporting cells of the carotid body that have characteristics of glial cells and with processes that envelope the junctions between glomus cells and nerve endings 2018-07-02T15:35:26Z abnormal carotid body sustentacular cell physiology MPheno.ontology MP:0020842 abnormal supporting cell of carotid body physiology MP:0020842 any functional anomaly of the supporting cells of the carotid body that have characteristics of glial cells and with processes that envelope the junctions between glomus cells and nerve endings CL:0002256 PMID:10846047 any functional anomaly of the round or oval neuroepithelial cells in the carotid body that contact other type I cells or capillaries and are capable of secreting a number of neurotransmitters 2018-07-02T15:35:45Z abnormal carotid body glomus cell physiology MPheno.ontology MP:0020843 abnormal type I cell of carotid body physiology MP:0020843 any functional anomaly of the round or oval neuroepithelial cells in the carotid body that contact other type I cells or capillaries and are capable of secreting a number of neurotransmitters CL:0002292 PMID:10846047 url:https://en.wikipedia.org/wiki/Glomus_cell any anomaly in the change in the number of breaths per minute induced by a stimulus 2018-07-02T17:44:01Z MPheno.ontology MP:0020844 abnormal pulmonary respiratory rate response MP:0020844 any anomaly in the change in the number of breaths per minute induced by a stimulus PMID:26560302 https://orcid.org/0000-0003-4606-0597 any anomaly in the cellular synthesis of RNA on a template of DNA 2018-07-02T18:03:42Z abnormal DNA-dependent transcription abnormal cellular transcription abnormal transcription MPheno.ontology MP:0020845 abnormal DNA-templated transcription MP:0020845 any anomaly in the cellular synthesis of RNA on a template of DNA GO:0006351 PMID:27040500 any anomaly in a process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another 2018-07-02T18:27:06Z abnormal cell mobility MPheno.ontology MP:0020846 abnormal cell motility MP:0020846 any anomaly in a process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another GO:0048870 any functional anomaly of the small organelle enclosed by a single membrane that contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism 2018-10-01T17:30:11Z abnormal peroxisomal physiology abnormal peroxisome vesicle physiology MPheno.ontology MP:0020847 abnormal peroxisome physiology MP:0020847 any functional anomaly of the small organelle enclosed by a single membrane that contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism GO:0005777 any anomaly in the process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle 2018-10-01T17:39:23Z MPheno.ontology MP:0020848 abnormal exocytosis MP:0020848 any anomaly in the process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle GO:0006887 any anomaly in the structure of the part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins 2018-10-01T17:47:08Z MPheno.ontology MP:0020849 abnormal actin cytoskeleton morphology MP:0020849 any anomaly in the structure of the part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins GO:0015629 any structural anomaly of the part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins 2018-10-01T17:53:28Z MPheno.ontology MP:0020850 abnormal microtubule cytoskeleton morphology MP:0020850 any structural anomaly of the part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins GO:0015630 any structural anomaly in the closed structures, found only in eukaryotic cells, that are completely surrounded by unit membrane and contain liquid material 2018-10-01T18:07:46Z MPheno.ontology MP:0020851 abnormal vacuole morphology MP:0020851 any structural anomaly in the closed structures, found only in eukaryotic cells, that are completely surrounded by unit membrane and contain liquid material GO:0005773 any anomaly in the actions, reactions, or performance of an organism in response to an odor 2018-10-11T18:07:39Z abnormal behavioral response to scent abnormal behavioral response to smell abnormal behavioural response to odour abnormal behavioural response to scent abnormal behavioural response to smell abnormal olfactory behaviour MPheno.ontology MP:0020852 abnormal olfactory behavior MP:0020852 any anomaly in the actions, reactions, or performance of an organism in response to an odor GO:0042048 anomaly in the width or number of cell layers of the smooth stratified squamous epithelium that covers the outer surface of the cornea 2018-10-17T15:15:53Z abnormal corneal epithelium thickness MPheno.ontology MP:0020853 abnormal cornea epithelium thickness MP:0020853 anomaly in the width or number of cell layers of the smooth stratified squamous epithelium that covers the outer surface of the cornea https://orcid.org/0000-0003-4606-0597 increase in the width or number of cell layers of the smooth stratified squamous epithelium that covers the outer surface of the cornea 2018-10-17T15:22:19Z increased corneal epithelium thickness MPheno.ontology MP:0020854 increased cornea epithelium thickness MP:0020854 increase in the width or number of cell layers of the smooth stratified squamous epithelium that covers the outer surface of the cornea https://orcid.org/0000-0003-4606-0597 decrease in the width or number of cell layers of the smooth stratified squamous epithelium that covers the outer surface of the cornea 2018-10-17T15:22:35Z decreased corneal epithelium thickness reduced corneal epithelium thickness MPheno.ontology MP:0020855 decreased cornea epithelium thickness MP:0020855 decrease in the width or number of cell layers of the smooth stratified squamous epithelium that covers the outer surface of the cornea https://orcid.org/0000-0003-4606-0597 absence of the smooth stratified squamous epithelium that covers the outer surface of the cornea 2018-10-17T15:46:24Z absent corneal epithelium MPheno.ontology MP:0020856 absent cornea epithelium MP:0020856 absence of the smooth stratified squamous epithelium that covers the outer surface of the cornea https://orcid.org/0000-0003-4606-0597 increase in the number of normal cells in normal arrangement in the corneal epithelium, typically resulting in increased size 2018-10-17T15:51:19Z corneal epithelium hyperplasia hyperplastic corneal epithelium MPheno.ontology MP:0020857 cornea epithelium hyperplasia MP:0020857 increase in the number of normal cells in normal arrangement in the corneal epithelium, typically resulting in increased size https://orcid.org/0000-0003-4606-0597 decrease in the number of normal cells in normal arrangement in the corneal epithelium, typically resulting in decreased size 2018-10-17T15:51:36Z corneal epithelium hypoplasia hypoplastic corneal epithelium MPheno.ontology MP:0020858 cornea epithelium hypoplasia MP:0020858 decrease in the number of normal cells in normal arrangement in the corneal epithelium, typically resulting in decreased size https://orcid.org/0000-0003-4606-0597 derangement of the pattern of the smooth stratified squamous epithelium that covers the outer surface of the cornea 2018-10-17T15:58:42Z disorganised corneal epithelium disorganized corneal epithelium MPheno.ontology MP:0020859 disorganized cornea epithelium MP:0020859 derangement of the pattern of the smooth stratified squamous epithelium that covers the outer surface of the cornea https://orcid.org/0000-0003-4606-0597 any functional anomaly of the transparent anterior portion of the fibrous coat of the eye that covers the iris, pupil, and anterior chamber; together with the lens, the cornea refracts light 2018-10-17T18:15:27Z abnormal cornea of camera-type eye physiology abnormal corneal physiology abnormal tarsal conjunctiva physiology abnormal tunica cornea physiology MPheno.ontology MP:0020860 abnormal cornea physiology MP:0020860 any functional anomaly of the transparent anterior portion of the fibrous coat of the eye that covers the iris, pupil, and anterior chamber; together with the lens, the cornea refracts light UBERON:0000964 aberrant process of repair of trauma to the cornea, especially that caused by physical means 2018-10-17T18:20:42Z abnormal corneal wound healing MPheno.ontology MP:0020861 abnormal cornea wound healing MP:0020861 aberrant process of repair of trauma to the cornea, especially that caused by physical means https://orcid.org/0000-0003-4606-0597 increase in the susceptibility of the cornea to damage or rupture 2018-10-17T18:26:52Z fragile cornea increased corneal fragility MPheno.ontology MP:0020862 increased cornea fragility MP:0020862 increase in the susceptibility of the cornea to damage or rupture https://medical-dictionary.thefreedictionary.com/corneal+fragility any anomaly in the ability to orient and open/close mouth in sucking pattern in response to external light touching or stroking of the chin 2018-10-18T18:53:45Z abnormal rooting reflex abnormal rooting response MPheno.ontology MP:0020863 abnormal suckling reflex MP:0020863 any anomaly in the ability to orient and open/close mouth in sucking pattern in response to external light touching or stroking of the chin https://www.medicinenet.com/script/main/art.asp?articlekey=5392 cessation of the suckling reflex occurs earlier in development compared to controls 2018-10-18T18:57:59Z premature rooting reflex loss premature rooting response loss MPheno.ontology MP:0020864 premature suckling reflex loss MP:0020864 cessation of the suckling reflex occurs earlier in development compared to controls https://orcid.org/0000-0003-4606-0597 cessation of the suckling reflex occurs later in development compared to controls 2018-10-18T18:58:25Z delayed rooting reflex loss delayed rooting response loss MPheno.ontology MP:0020865 delayed suckling reflex loss MP:0020865 cessation of the suckling reflex occurs later in development compared to controls https://orcid.org/0000-0003-4606-0597 any anomaly in the chemical reactions and pathways resulting in the formation of lipids 2018-12-11T16:26:09Z abnormal lipid anabolism abnormal lipid biosynthesis abnormal lipid biosynthetic process abnormal lipid formation abnormal lipid synthesis MPheno.ontology MP:0020866 abnormal lipogenesis MP:0020866 any anomaly in the chemical reactions and pathways resulting in the formation of lipids GO:0008610 any anomaly in the chemical reactions and pathways resulting in the formation of lipids that results in increased formation of lipids 2018-12-11T16:43:29Z elevated lipogenesis increased lipid anabolism increased lipid biosynthesis increased lipid formation increased lipid synthesis MPheno.ontology MP:0020867 increased lipogenesis MP:0020867 any anomaly in the chemical reactions and pathways resulting in the formation of lipids that results in increased formation of lipids https://orcid.org/0000-0003-4606-0597 any anomaly in the chemical reactions and pathways resulting in the formation of lipids that results in decreased formation of lipids 2018-12-11T16:43:41Z decreased lipid anabolism decreased lipid biosynthesis decreased lipid formation decreased lipid synthesis reduced lipogenesis MPheno.ontology MP:0020868 decreased lipogenesis MP:0020868 any anomaly in the chemical reactions and pathways resulting in the formation of lipids that results in decreased formation of lipids https://orcid.org/0000-0003-4606-0597 complete absence of sperm motility 2018-12-11T18:42:24Z MPheno.ontology MP:0020869 immotile sperm MP:0020869 complete absence of sperm motility PMID:16920728 https://orcid.org/0000-0003-4606-0597 less than average preference for staying at the perimeter walls of an open area or in an enclosed versus exposed area; may be used as an indicator of increased anxiety response MPheno.ontology MP:0020870 decreased thigmotaxis MP:0020870 less than average preference for staying at the perimeter walls of an open area or in an enclosed versus exposed area; may be used as an indicator of increased anxiety response https://orcid.org/0000-0003-4606-0597 any anomaly in locomotor activity following an acute or repeated exposure to the psychostimulant cocaine 2019-10-02T15:08:05Z MPheno.ontology MP:0020871 abnormal locomotor response to cocaine MP:0020871 any anomaly in locomotor activity following an acute or repeated exposure to the psychostimulant cocaine https://orcid.org/0000-0001-7345-444X any structural anomaly of one or more of the nuclei of the brain that are part of the hypothalamus 2019-04-29T18:05:24Z abnormal nucleus of the hypothalamus morphology MPheno.ontology MP:0020872 abnormal hypothalamic nucleus morphology MP:0020872 any structural anomaly of one or more of the nuclei of the brain that are part of the hypothalamus UBERON:0006568 any structural anomaly of the aggregation of neurons in the mediobasal hypothalamus, adjacent to the third ventricle and the median eminence 2019-04-29T18:13:31Z abnormal ArcH morphology abnormal arcuate hypothalamic nucleus morphology abnormal arcuate periventricular nucleus morphology abnormal infundibular hypothalamic nucleus morphology abnormal infundibular nucleus morphology abnormal nucleus infundibularis morphology MPheno.ontology MP:0020873 abnormal arcuate nucleus of hypothalamus morphology MP:0020873 any structural anomaly of the aggregation of neurons in the mediobasal hypothalamus, adjacent to the third ventricle and the median eminence UBERON:0001932 https://www.sciencedirect.com/topics/neuroscience/arcuate-nucleus aberrant concentration of dopamine in the one or more tissues or fluids of the nervous system 2019-05-31T15:33:26Z MPheno.ontology MP:0020874 abnormal nervous system dopamine level MP:0020874 aberrant concentration of dopamine in the one or more tissues or fluids of the nervous system https://orcid.org/0000-0003-4606-0597 reduced concentration of dopamine in the one or more tissues or fluids of the nervous system 2019-05-31T15:40:30Z reduced nervous system dopamine level MPheno.ontology MP:0020875 decreased nervous system dopamine level MP:0020875 reduced concentration of dopamine in the one or more tissues or fluids of the nervous system https://orcid.org/0000-0003-4606-0597 elevated concentration of dopamine in the one or more tissues or fluids of the nervous system 2019-05-31T15:40:50Z elevated nervous system dopamine level MPheno.ontology MP:0020876 increased nervous system dopamine level MP:0020876 elevated concentration of dopamine in the one or more tissues or fluids of the nervous system https://orcid.org/0000-0003-4606-0597 less than the normal blood amount of dopamine 2019-05-31T16:05:49Z reduced circulating dopamine level MPheno.ontology MP:0020877 decreased circulating dopamine level MP:0020877 less than the normal blood amount of dopamine https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration of one or more minerals in the milk 2019-06-06T17:34:32Z MPheno.ontology MP:0020878 abnormal milk mineral level MP:0020878 any anomaly in the concentration of one or more minerals in the milk https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration of calcium in the body or bodily fluids 2019-06-06T17:40:58Z MPheno.ontology MP:0020879 abnormal calcium level MP:0020879 any anomaly in the concentration of calcium in the body or bodily fluids https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration in the milk of calcium 2019-06-06T17:48:56Z MPheno.ontology MP:0020880 abnormal milk calcium level MP:0020880 any anomaly in the concentration in the milk of calcium https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration of copper in the milk 2019-06-06T17:57:06Z MPheno.ontology MP:0020881 abnormal milk copper level MP:0020881 any anomaly in the concentration of copper in the milk https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration of iron in the milk 2019-06-06T18:01:54Z MPheno.ontology MP:0020882 abnormal milk iron level MP:0020882 any anomaly in the concentration of iron in the milk https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration of magnesium in the body 2019-06-06T18:05:13Z MPheno.ontology MP:0020883 abnormal magnesium level MP:0020883 any anomaly in the concentration of magnesium in the body https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration of magnesium in milk 2019-06-06T18:21:21Z MPheno.ontology MP:0020884 abnormal milk magnesium level MP:0020884 any anomaly in the concentration of magnesium in milk https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration of phosphate (salt or ester of phosphoric acid) in the body 2019-06-06T18:24:50Z MPheno.ontology MP:0020885 abnormal phosphate level MP:0020885 any anomaly in the concentration of phosphate (salt or ester of phosphoric acid) in the body https://orcid.org/0000-0003-4606-0597 any anomaly in the milk concentrations of the salt or ester of phosphoric acid 2019-06-06T18:32:01Z MPheno.ontology MP:0020886 abnormal milk phosphate level MP:0020886 any anomaly in the milk concentrations of the salt or ester of phosphoric acid https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration of potassium in the body 2019-06-06T18:35:20Z MPheno.ontology MP:0020887 abnormal potassium level MP:0020887 any anomaly in the concentration of potassium in the body https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration of potassium in milk 2019-06-06T18:38:48Z MPheno.ontology MP:0020888 abnormal milk potassium level MP:0020888 any anomaly in the concentration of potassium in milk https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration of sodium in the body 2019-06-06T18:42:23Z MPheno.ontology MP:0020889 abnormal sodium level MP:0020889 any anomaly in the concentration of sodium in the body https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration of sodium in milk 2019-06-06T18:46:52Z MPheno.ontology MP:0020890 abnormal milk sodium level MP:0020890 any anomaly in the concentration of sodium in milk https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration of sulfate (sulfur) in the body 2019-06-06T18:50:41Z MPheno.ontology MP:0020891 abnormal sulfate level MP:0020891 any anomaly in the concentration of sulfate (sulfur) in the body https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration of sulfate (sulfur) in milk 2019-06-06T18:54:43Z MPheno.ontology MP:0020892 abnormal milk sulfate level MP:0020892 any anomaly in the concentration of sulfate (sulfur) in milk https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration of zinc in the body 2019-06-06T18:58:25Z MPheno.ontology MP:0020893 abnormal zinc level MP:0020893 any anomaly in the concentration of zinc in the body https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration of zinc in milk 2019-06-06T19:06:04Z MPheno.ontology MP:0020894 abnormal milk zinc level MP:0020894 any anomaly in the concentration of zinc in milk https://orcid.org/0000-0003-4606-0597 any anomaly in the expected locomotor response to a single exposure to cocaine in a drug-naive animal 2019-10-02T15:13:52Z MPheno.ontology MP:0020895 abnormal acute locomotor response to cocaine MP:0020895 any anomaly in the expected locomotor response to a single exposure to cocaine in a drug-naive animal https://orcid.org/0000-0001-7345-444X any anomaly in the expected increase in locomotor activation to cocaine upon repeated exposures 2019-10-02T15:17:11Z MPheno.ontology MP:0020896 abnormal locomotor sensitization to cocaine MP:0020896 any anomaly in the expected increase in locomotor activation to cocaine upon repeated exposures https://orcid.org/0000-0001-7345-444X any anomaly in the expected increase in locomotor activation after second exposure to cocaine 2019-10-02T15:18:10Z MPheno.ontology MP:0020897 abnormal initiation of locomotor sensitization to cocaine MP:0020897 any anomaly in the expected increase in locomotor activation after second exposure to cocaine https://orcid.org/0000-0001-7345-444X any anomaly in the maintenance of locomotor sensitization to cocaine after a period of no exposure 2019-10-02T15:19:28Z MPheno.ontology MP:0020898 abnormal expression of locomotor sensitization to cocaine MP:0020898 any anomaly in the maintenance of locomotor sensitization to cocaine after a period of no exposure https://orcid.org/0000-0001-7345-444X any anomaly in the locomotor response to a cocaine-paired environment in the absence of the cocaine 2019-10-02T15:21:02Z MPheno.ontology MP:0020899 abnormal cocaine conditioned locomotor activation MP:0020899 any anomaly in the locomotor response to a cocaine-paired environment in the absence of the cocaine https://orcid.org/0000-0001-7345-444X any structural anomaly of the epithelial layer of the middle ear 2019-10-08T14:48:00Z MPheno.ontology MP:0020900 abnormal middle ear epithelium morphology MP:0020900 any structural anomaly of the epithelial layer of the middle ear https://orcid.org/0000-0003-4606-0597 any structural anomaly of the mucin secreting cells located in the middle ear epithelium 2019-10-08T14:51:28Z MPheno.ontology MP:0020901 abnormal middle ear goblet cell morphology MP:0020901 any structural anomaly of the mucin secreting cells located in the middle ear epithelium CL:0000160 PMID:27959908 any anomaly in the number of goblet cells in the middle ear epithelium 2019-10-08T14:59:09Z MPheno.ontology MP:0020902 abnormal middle ear goblet cell number MP:0020902 any anomaly in the number of goblet cells in the middle ear epithelium https://orcid.org/0000-0003-4606-0597 greater than the expected number of goblet cells in the middle ear epithelium 2019-10-08T15:02:25Z MPheno.ontology MP:0020903 increased middle ear goblet cell number MP:0020903 greater than the expected number of goblet cells in the middle ear epithelium https://orcid.org/0000-0003-4606-0597 fewer than the expected number of goblet cells in the middle ear epithelium 2019-10-08T15:02:43Z MPheno.ontology MP:0020904 decreased middle ear goblet cell number MP:0020904 fewer than the expected number of goblet cells in the middle ear epithelium https://orcid.org/0000-0003-4606-0597 any anomaly in the volitional intake of cocaine 2020-03-23T15:24:55Z MPheno.ontology MP:0020905 abnormal cocaine self-administration MP:0020905 any anomaly in the volitional intake of cocaine JAX:CheslerLab any anomaly in the expression of a behavior associated with obtaining cocaine 2020-03-23T15:30:32Z MPheno.ontology MP:0020906 abnormal acquisiton of operant behavior for a cocaine reinforcer MP:0020906 any anomaly in the expression of a behavior associated with obtaining cocaine JAX:CheslerLab any anomaly in the reduction of cocaine seeking behavior in the absence of cocaine following acquisition of a learned response for cocaine 2020-03-23T15:32:38Z MPheno.ontology MP:0020907 abnormal extinction of cocaine self-administration MP:0020907 any anomaly in the reduction of cocaine seeking behavior in the absence of cocaine following acquisition of a learned response for cocaine JAX:CheslerLab any anomaly in the restoration of extinguished cocaine seeking behavior 2020-03-23T15:35:03Z MPheno.ontology MP:0020908 abnormal reinstatement of an extinguished operant behavior for a cocaine reinforcer MP:0020908 any anomaly in the restoration of extinguished cocaine seeking behavior JAX:CheslerLab any anomaly in the restoration of extinguished cocaine seeking behavior in response to cocaine associated cues 2020-03-23T15:36:54Z MPheno.ontology MP:0020909 abnormal cue-induced reinstatement of an extinguished operant behavior for a cocaine reinforcer MP:0020909 any anomaly in the restoration of extinguished cocaine seeking behavior in response to cocaine associated cues JAX:CheslerLab any anomaly in the restoration of extinguished cocaine seeking behavior in response to stress associated cues 2020-03-23T15:38:59Z MPheno.ontology MP:0020910 abnormal stress-induced reinstatement of an extinguished operant behavior for a cocaine reinforcer MP:0020910 any anomaly in the restoration of extinguished cocaine seeking behavior in response to stress associated cues JAX:CheslerLab any anomaly in the restoration of extinguished cocaine seeking behavior in response to a drug 2020-03-23T15:40:59Z MPheno.ontology MP:0020911 abnormal drug-induced reinstatement of an extinguished operant behavior for a drug reinforcer MP:0020911 any anomaly in the restoration of extinguished cocaine seeking behavior in response to a drug JAX:CheslerLab any anomaly in the likelihood that an organism will develop ill effects from infection with an RNA virus or viroid or from components of or toxins produced by a an RNA virus or viroid altered susceptibility to RNA viroid infection altered susceptibility to RNA virus infection altered susceptibility to Riboviria infection MPheno.ontology MP:0020912 abnormal susceptibility to Riboviria infection MP:0020912 any anomaly in the likelihood that an organism will develop ill effects from infection with an RNA virus or viroid or from components of or toxins produced by a an RNA virus or viroid NCBITaxon:2559587 url:https://www.sciencedirect.com/science/article/pii/B9780128096338212314 increase in the likelihood that an organism will develop ill effects from infection with an RNA virus or viroid or from components of or toxins produced by a an RNA virus or viroid increased susceptibility to RNA viroid infection increased susceptibility to RNA virus infection MPheno.ontology MP:0020913 increased susceptibility to Riboviria infection MP:0020913 increase in the likelihood that an organism will develop ill effects from infection with an RNA virus or viroid or from components of or toxins produced by a an RNA virus or viroid url:https://www.sciencedirect.com/science/article/pii/B9780128096338212314 decrease in the likelihood that an organism will develop ill effects from infection with an RNA virus or viroid or from components of or toxins produced by a an RNA virus or viroid decreased susceptibility to RNA viroid infection decreased susceptibility to RNA virus infection resistance to Riboviria infection MPheno.ontology MP:0020914 decreased susceptibility to Riboviria infection MP:0020914 decrease in the likelihood that an organism will develop ill effects from infection with an RNA virus or viroid or from components of or toxins produced by a an RNA virus or viroid url:https://www.sciencedirect.com/science/article/pii/B9780128096338212314 any anomaly in the likelihood that an organism will develop ill effects from infection with a linear, double-stranded DNA virus contained within a T=16 icosahedral capsid surrounded by a proteinaceous matrix (tegument) and then by a lipid envelope containing membrane-associated proteins or from components of or toxins produced by a virus from this Order altered susceptibility to Herpesvirales infection MPheno.ontology MP:0020915 abnormal susceptibility to Herpesvirales infection MP:0020915 any anomaly in the likelihood that an organism will develop ill effects from infection with a linear, double-stranded DNA virus contained within a T=16 icosahedral capsid surrounded by a proteinaceous matrix (tegument) and then by a lipid envelope containing membrane-associated proteins or from components of or toxins produced by a virus from this Order NCBITaxon:548681 PMID:19066710 increase in the likelihood that an organism will develop ill effects from infection with a Herpesvirales virus or from components of or toxins produced by a Herpesvirales virus MPheno.ontology MP:0020916 increased susceptibility to Herpesvirales infection MP:0020916 increase in the likelihood that an organism will develop ill effects from infection with a Herpesvirales virus or from components of or toxins produced by a Herpesvirales virus PMID:19066710 decrease in the likelihood that an organism will develop ill effects from infection with a Herpesvirales virus or from components of or toxins produced by a Herpesvirales virus resistance to Herpesvirales viral infection MPheno.ontology MP:0020917 decreased susceptibility to Herpesvirales infection MP:0020917 decrease in the likelihood that an organism will develop ill effects from infection with a Herpesvirales virus or from components of or toxins produced by a Herpesvirales virus PMID:19066710 any anomaly in the likelihood that an organism will develop ill effects from infection with a reverse-transcribing virus (defined by expression of a viral reverse transcriptases) or from components of or toxins produced by a virus from this Order altered susceptibility to Ortervirales infection altered susceptibility to reverse transcribing viral infection MPheno.ontology MP:0020918 abnormal susceptibility to Ortervirales infection MP:0020918 any anomaly in the likelihood that an organism will develop ill effects from infection with a reverse-transcribing virus (defined by expression of a viral reverse transcriptases) or from components of or toxins produced by a virus from this Order NCBITaxon:2169561 PMID:29618642 increase in the likelihood that an organism will develop ill effects from infection with an Ortervirales virus or from components of or toxins produced by a virus from this Order MPheno.ontology MP:0020919 increased susceptibility to Ortervirales infection MP:0020919 increase in the likelihood that an organism will develop ill effects from infection with an Ortervirales virus or from components of or toxins produced by a virus from this Order PMID:29618642 decrease in the likelihood that an organism will develop ill effects from infection with an Ortervirales virus or from components of or toxins produced by a virus from this Order resistance to Ortervirales viral infection MPheno.ontology MP:0020920 decreased susceptibility to Ortervirales infection MP:0020920 decrease in the likelihood that an organism will develop ill effects from infection with an Ortervirales virus or from components of or toxins produced by a virus from this Order PMID:29618642 any anomaly in the likelihood that an organism will develop ill effects from infection with a non-enveloped, T=1 icosahedral capsid, linear, single-stranded DNA virus or from components of or toxins produced by a virus from this Family altered susceptibility to Parvovirial infection altered susceptibility to Parvoviridae infection MPheno.ontology MP:0020921 abnormal susceptibility to Parvoviridae infection MP:0020921 any anomaly in the likelihood that an organism will develop ill effects from infection with a non-enveloped, T=1 icosahedral capsid, linear, single-stranded DNA virus or from components of or toxins produced by a virus from this Family NCBITaxon:10780 url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/ssdna-viruses/w/parvoviridae increase in the likelihood that an organism will develop ill effects from infection with a Parvoviridae virus or from components of or toxins produced by a virus from this Family MPheno.ontology MP:0020922 increased susceptibility to Parvoviridae infection MP:0020922 increase in the likelihood that an organism will develop ill effects from infection with a Parvoviridae virus or from components of or toxins produced by a virus from this Family url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/ssdna-viruses/w/parvoviridae decrease in the likelihood that an organism will develop ill effects from infection with a Parvoviridae virus or from components of or toxins produced by a virus from this Family resistance to Parvoviridae viral infection MPheno.ontology MP:0020923 decreased susceptibility to Parvoviridae infection MP:0020923 decrease in the likelihood that an organism will develop ill effects from infection with a Parvoviridae virus or from components of or toxins produced by a virus from this Family url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/ssdna-viruses/w/parvoviridae any anomaly in the likelihood that an organism will develop ill effects from infection with a reverse-transcribing virs with a spherical, occasionally pleomorphic shape, a 42-50 nm diameter, and no evident surface projections after negative staining virus or from components of or toxins produced by a virus from this Family altered susceptibility to Hepadnaviridae infection MPheno.ontology MP:0020924 abnormal susceptibility to Hepadnaviridae infection MP:0020924 any anomaly in the likelihood that an organism will develop ill effects from infection with a reverse-transcribing virs with a spherical, occasionally pleomorphic shape, a 42-50 nm diameter, and no evident surface projections after negative staining virus or from components of or toxins produced by a virus from this Family NCBITaxon:10404 url:https://talk.ictvonline.org/ictv-reports/ictv_9th_report/reverse-transcribing-dna-and-rna-viruses-2011/w/rt_viruses/155/hepadnaviridae url:https://www.sciencedirect.com/topics/immunology-and-microbiology/hepadnaviridae increase in the likelihood that an organism will develop ill effects from infection with a Hepadnaviridae virus or from components of or toxins produced by a Hepadnaviridae virus MPheno.ontology MP:0020925 increased susceptibility to Hepadnaviridae infection MP:0020925 increase in the likelihood that an organism will develop ill effects from infection with a Hepadnaviridae virus or from components of or toxins produced by a Hepadnaviridae virus url:https://talk.ictvonline.org/ictv-reports/ictv_9th_report/reverse-transcribing-dna-and-rna-viruses-2011/w/rt_viruses/155/hepadnaviridae url:https://www.sciencedirect.com/topics/immunology-and-microbiology/hepadnaviridae decrease in the likelihood that an organism will develop ill effects from infection with a Hepadnaviridae virus or from components of or toxins produced by a Hepadnaviridae virus resistance to Hepadnaviridae viral infection MPheno.ontology MP:0020926 decreased susceptibility to Hepadnaviridae infection MP:0020926 decrease in the likelihood that an organism will develop ill effects from infection with a Hepadnaviridae virus or from components of or toxins produced by a Hepadnaviridae virus url:https://talk.ictvonline.org/ictv-reports/ictv_9th_report/reverse-transcribing-dna-and-rna-viruses-2011/w/rt_viruses/155/hepadnaviridae url:https://www.sciencedirect.com/topics/immunology-and-microbiology/hepadnaviridae any anomaly in the likelihood that an organism will develop ill effects from infection with a single strand DNA virus that replicate entirely in the cytoplasm or from components of or toxins produced by a virus from this Family altered susceptibility to Poxviridae infection altered susceptibility to poxyvirus infection MPheno.ontology MP:0020927 abnormal susceptibility to Poxviridae infection MP:0020927 any anomaly in the likelihood that an organism will develop ill effects from infection with a single strand DNA virus that replicate entirely in the cytoplasm or from components of or toxins produced by a virus from this Family NCBITaxon:10240 PMID:29145493 increase in the likelihood that an organism will develop ill effects from infection with a Poxviridae virus or from components of or toxins produced by a Poxviridae virus MPheno.ontology MP:0020928 increased susceptibility to Poxviridae infection MP:0020928 increase in the likelihood that an organism will develop ill effects from infection with a Poxviridae virus or from components of or toxins produced by a Poxviridae virus PMID:29145493 decrease in the likelihood that an organism will develop ill effects from infection with a Poxviridae virus or from components of or toxins produced by a Poxviridae virus resistance to Poxviridae viral infection MPheno.ontology MP:0020929 decreased susceptibility to Poxviridae infection MP:0020929 decrease in the likelihood that an organism will develop ill effects from infection with a Poxviridae virus or from components of or toxins produced by a Poxviridae virus PMID:29145493 any anomaly in the likelihood that an organism will develop ill effects from infection with a nonenveloped double stranded DNA virus of 70-90 nm in diameter, with an icosahedral capsid consisting of 240 nonvertex capsomers and 12 vertex capsomers virus or from components of or toxins produced by a virus from this Family altered susceptibility to Adenovirial infection altered susceptibility to Adenoviridae infection MPheno.ontology MP:0020930 abnormal susceptibility to Adenoviridae infection MP:0020930 any anomaly in the likelihood that an organism will develop ill effects from infection with a nonenveloped double stranded DNA virus of 70-90 nm in diameter, with an icosahedral capsid consisting of 240 nonvertex capsomers and 12 vertex capsomers virus or from components of or toxins produced by a virus from this Family NCBITaxon:10508 url:https://www.sciencedirect.com/topics/neuroscience/adenoviridae increase in the likelihood that an organism will develop ill effects from infection with an Adenoviridae virus or from components of or toxins produced by a Adenoviridae virus MPheno.ontology MP:0020931 increased susceptibility to Adenoviridae infection MP:0020931 increase in the likelihood that an organism will develop ill effects from infection with an Adenoviridae virus or from components of or toxins produced by a Adenoviridae virus url:https://www.sciencedirect.com/topics/neuroscience/adenoviridae decrease in the likelihood that an organism will develop ill effects from infection with an Adenoviridae virus or from components of or toxins produced by a Adenoviridae virus resistance to Adenoviridae viral infection MPheno.ontology MP:0020932 decreased susceptibility to Adenoviridae infection MP:0020932 decrease in the likelihood that an organism will develop ill effects from infection with an Adenoviridae virus or from components of or toxins produced by a Adenoviridae virus url:https://www.sciencedirect.com/topics/neuroscience/adenoviridae any anomaly in the likelihood that an organism will develop ill effects from infection with an enveloped (about 100 nm in diameter), icosahedral reverse-transcribing virus that possess an RNA of about 7-10 kb or from components of or toxins produced by a virus from this Family altered susceptibility to Retroviridae infection altered susceptibility to retroviral infection MPheno.ontology MP:0020933 abnormal susceptibility to Retroviridae infection MP:0020933 any anomaly in the likelihood that an organism will develop ill effects from infection with an enveloped (about 100 nm in diameter), icosahedral reverse-transcribing virus that possess an RNA of about 7-10 kb or from components of or toxins produced by a virus from this Family NCBITaxon:11632 url:https://www.sciencedirect.com/topics/immunology-and-microbiology/retrovirus increase in the likelihood that an organism will develop ill effects from infection with a Retroviridae virus or from components of or toxins produced by a Retroviridae virus MPheno.ontology MP:0020934 increased susceptibility to Retroviridae infection MP:0020934 increase in the likelihood that an organism will develop ill effects from infection with a Retroviridae virus or from components of or toxins produced by a Retroviridae virus url:https://www.sciencedirect.com/topics/immunology-and-microbiology/retrovirus decrease in the likelihood that an organism will develop ill effects from infection with a Retroviridae virus or from components of or toxins produced by a Retroviridae virus resistance to Retroviridae viral infection MPheno.ontology MP:0020935 decreased susceptibility to Retroviridae infection MP:0020935 decrease in the likelihood that an organism will develop ill effects from infection with a Retroviridae virus or from components of or toxins produced by a Retroviridae virus url:https://www.sciencedirect.com/topics/immunology-and-microbiology/retrovirus any anomaly in the likelihood that an organism will develop ill effects from infection with one of the small, icosahedral viruses with a single-stranded, highly diverse positive-sense, non-segemented RNA genomes or from components of or toxins produced by a virus from this Family altered susceptibility to Picornaviridae infection altered susceptibility to picornavirus infection MPheno.ontology MP:0020936 abnormal susceptibility to Picornaviridae infection MP:0020936 any anomaly in the likelihood that an organism will develop ill effects from infection with one of the small, icosahedral viruses with a single-stranded, highly diverse positive-sense, non-segemented RNA genomes or from components of or toxins produced by a virus from this Family NCBITaxon:12058 url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/positive-sense-rna-viruses/picornavirales/w/picornaviridae increase in the likelihood that an organism will develop ill effects from infection with a Picornaviridae virus or from components of or toxins produced by a Picornaviridae virus MPheno.ontology MP:0020937 increased susceptibility to Picornaviridae infection MP:0020937 increase in the likelihood that an organism will develop ill effects from infection with a Picornaviridae virus or from components of or toxins produced by a Picornaviridae virus url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/positive-sense-rna-viruses/picornavirales/w/picornaviridae decrease in the likelihood that an organism will develop ill effects from infection with a Picornaviridae virus or from components of or toxins produced by a Picornaviridae virus resistance to picornavirus viral infection MPheno.ontology MP:0020938 decreased susceptibility to Picornaviridae infection MP:0020938 decrease in the likelihood that an organism will develop ill effects from infection with a Picornaviridae virus or from components of or toxins produced by a Picornaviridae virus url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/positive-sense-rna-viruses/picornavirales/w/picornaviridae any anomaly in the likelihood that an organism will develop ill effects from infection with one of the small, enveloped viruses with single-stranded, positive-sense, non-segmented RNA genomes of 10-12 kb or from components of or toxins produced by a virus from this Family altered susceptibility to Togaviridae infection MPheno.ontology MP:0020939 abnormal susceptibility to Togaviridae infection MP:0020939 any anomaly in the likelihood that an organism will develop ill effects from infection with one of the small, enveloped viruses with single-stranded, positive-sense, non-segmented RNA genomes of 10-12 kb or from components of or toxins produced by a virus from this Family NCBITaxon:11018 url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/positive-sense-rna-viruses/w/togaviridae increase in the likelihood that an organism will develop ill effects from infection with a Togaviridae virus or from components of or toxins produced by a Togaviridae virus MPheno.ontology MP:0020940 increased susceptibility to Togaviridae infection MP:0020940 increase in the likelihood that an organism will develop ill effects from infection with a Togaviridae virus or from components of or toxins produced by a Togaviridae virus url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/positive-sense-rna-viruses/w/togaviridae decrease in the likelihood that an organism will develop ill effects from infection with a Togaviridae virus or from components of or toxins produced by a Togaviridae virus resistance to Togaviridae viral infection MPheno.ontology MP:0020941 decreased susceptibility to Togaviridae infection MP:0020941 decrease in the likelihood that an organism will develop ill effects from infection with a Togaviridae virus or from components of or toxins produced by a Togaviridae virus url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/positive-sense-rna-viruses/w/togaviridae any anomaly in the likelihood that an organism will develop ill effects from infection with one of the small enveloped viruses with positive-sense, non-segmented RNA genomes of approximately 9.0-13 kb or from components of or toxins produced by a virus from this Family altered susceptibility to Flaviviridae infection MPheno.ontology MP:0020942 abnormal susceptibility to Flaviviridae infection MP:0020942 any anomaly in the likelihood that an organism will develop ill effects from infection with one of the small enveloped viruses with positive-sense, non-segmented RNA genomes of approximately 9.0-13 kb or from components of or toxins produced by a virus from this Family NCBITaxon:11050 url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/positive-sense-rna-viruses/w/flaviviridae increase in the likelihood that an organism will develop ill effects from infection with a Flaviviridae virus or from components of or toxins produced by a Flaviviridae virus MPheno.ontology MP:0020943 increased susceptibility to Flaviviridae infection MP:0020943 increase in the likelihood that an organism will develop ill effects from infection with a Flaviviridae virus or from components of or toxins produced by a Flaviviridae virus url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/positive-sense-rna-viruses/w/flaviviridae decrease in the likelihood that an organism will develop ill effects from infection with a Flaviviridae virus or from components of or toxins produced by a Flaviviridae virus resistance to Flaviviridae viral infection MPheno.ontology MP:0020944 decreased susceptibility to Flaviviridae infection MP:0020944 decrease in the likelihood that an organism will develop ill effects from infection with a Flaviviridae virus or from components of or toxins produced by a Flaviviridae virus url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/positive-sense-rna-viruses/w/flaviviridae any anomaly in the likelihood that an organism will develop ill effects from infection with one of the viruses whose genomes are composed of several (six to eight) segments of single-stranded RNA or from components of or toxins produced by a virus from this Family altered susceptibility to Orthomyxoviridae infection MPheno.ontology MP:0020945 abnormal susceptibility to Orthomyxoviridae infection MP:0020945 any anomaly in the likelihood that an organism will develop ill effects from infection with one of the viruses whose genomes are composed of several (six to eight) segments of single-stranded RNA or from components of or toxins produced by a virus from this Family NCBITaxon:11308 url:https://www.sciencedirect.com/topics/immunology-and-microbiology/orthomyxoviridae increase in the likelihood that an organism will develop ill effects from infection with a Orthomyxoviridae virus or from components of or toxins produced by a Orthomyxoviridae virus MPheno.ontology MP:0020946 increased susceptibility to Orthomyxoviridae infection MP:0020946 increase in the likelihood that an organism will develop ill effects from infection with a Orthomyxoviridae virus or from components of or toxins produced by a Orthomyxoviridae virus url:https://www.sciencedirect.com/topics/immunology-and-microbiology/orthomyxoviridae decrease in the likelihood that an organism will develop ill effects from infection with a Orthomyxoviridae virus or from components of or toxins produced by a Orthomyxoviridae virus resistance to Orthomyxoviridae viral infection MPheno.ontology MP:0020947 decreased susceptibility to Orthomyxoviridae infection MP:0020947 decrease in the likelihood that an organism will develop ill effects from infection with a Orthomyxoviridae virus or from components of or toxins produced by a Orthomyxoviridae virus url:https://www.sciencedirect.com/topics/immunology-and-microbiology/orthomyxoviridae any anomaly in the likelihood that an organism will develop ill effects from infection with one of the enveloped positive-sense single-stranded RNA viruses with a genome of up to 32kb in length or from components of or toxins produced by a virus from this Family altered susceptibility to Coronaviridae infection altered susceptibility to coronavirus infection MPheno.ontology MP:0020948 abnormal susceptibility to Coronaviridae infection MP:0020948 any anomaly in the likelihood that an organism will develop ill effects from infection with one of the enveloped positive-sense single-stranded RNA viruses with a genome of up to 32kb in length or from components of or toxins produced by a virus from this Family NCBITaxon:11118 PMID:30568804 PMID:6654644 increase in the likelihood that an organism will develop ill effects from infection with a Coronaviridae virus or from components of or toxins produced by a Coronaviridae virus MPheno.ontology MP:0020949 increased susceptibility to Coronaviridae infection MP:0020949 increase in the likelihood that an organism will develop ill effects from infection with a Coronaviridae virus or from components of or toxins produced by a Coronaviridae virus PMID:30568804 PMID:6654644 decrease in the likelihood that an organism will develop ill effects from infection with a Coronaviridae virus or from components of or toxins produced by a Coronaviridae virus resistance to Coronaviridae viral infection MPheno.ontology MP:0020950 decreased susceptibility to Coronaviridae infection MP:0020950 decrease in the likelihood that an organism will develop ill effects from infection with a Coronaviridae virus or from components of or toxins produced by a Coronaviridae virus PMID:30568804 PMID:6654644 any anomaly in the likelihood that an organism will develop ill effects from infection with one of the large enveloped, negative-sense, single-stranded RNA viruses or from components of or toxins produced by a virus from this Family altered susceptibility to Paramyxoviridae infection MPheno.ontology MP:0020951 abnormal susceptibility to Paramyxoviridae infection MP:0020951 any anomaly in the likelihood that an organism will develop ill effects from infection with one of the large enveloped, negative-sense, single-stranded RNA viruses or from components of or toxins produced by a virus from this Family NCBITaxon:11158 url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/negative-sense-rna-viruses/mononegavirales/w/paramyxoviridae increase in the likelihood that an organism will develop ill effects from infection with a Paramyxoviridae virus or from components of or toxins produced by a Paramyxoviridae virus MPheno.ontology MP:0020952 increased susceptibility to Paramyxoviridae infection MP:0020952 increase in the likelihood that an organism will develop ill effects from infection with a Paramyxoviridae virus or from components of or toxins produced by a Paramyxoviridae virus url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/negative-sense-rna-viruses/mononegavirales/w/paramyxoviridae decrease in the likelihood that an organism will develop ill effects from infection with a Paramyxoviridae virus or from components of or toxins produced by a Paramyxoviridae virus resistance to Paramyxoviridae viral infection MPheno.ontology MP:0020953 decreased susceptibility to Paramyxoviridae infection MP:0020953 decrease in the likelihood that an organism will develop ill effects from infection with a Paramyxoviridae virus or from components of or toxins produced by a Paramyxoviridae virus url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/negative-sense-rna-viruses/mononegavirales/w/paramyxoviridae a lower than average point at which mechanical pain sensation is first detectable 2020-05-04T14:44:55Z hyperresponsive mechanical nociception mechanical hyperalgesia reduced mechanical nociceptive threshold MPheno.ontology MP:0020954 decreased mechanical nociceptive threshold MP:0020954 a lower than average point at which mechanical pain sensation is first detectable https://orcid.org/0000-0003-4606-0597 a higher than average point at which mechanical pain sensation is first detectable 2020-05-04T14:45:08Z hyporesponsive mechanical nociception mechanical hypoalgesia MPheno.ontology MP:0020955 increased mechanical nociceptive threshold MP:0020955 a higher than average point at which mechanical pain sensation is first detectable https://orcid.org/0000-0003-4606-0597 inability to sense mechanical pain 2020-05-04T14:45:25Z unresponsive to mechanical nociception MPheno.ontology MP:0020956 absent mechanical nociception MP:0020956 inability to sense mechanical pain https://orcid.org/0000-0003-4606-0597 any anomaly in the process that results in the unequal transmission of alleles, haplotypes, or chromosomes from a parental genome to gametes 2020-09-04T14:08:51Z MPheno.ontology MP:0020957 abnormal meiotic drive MP:0020957 any anomaly in the process that results in the unequal transmission of alleles, haplotypes, or chromosomes from a parental genome to gametes GO:0110134 anomaly in the time from the onset of light stimulus to the peak of the c-wave 2021-01-07T15:41:03Z MPheno.ontology MP:0020958 abnormal c-wave implicit time MP:0020958 anomaly in the time from the onset of light stimulus to the peak of the c-wave KOMP:abby-jones http://webvision.med.utah.edu decrease in the time from the onset of light stimulus to the peak of the c-wave 2021-01-07T15:46:41Z faster c-wave implicit time MPheno.ontology MP:0020959 decreased c-wave implicit time MP:0020959 decrease in the time from the onset of light stimulus to the peak of the c-wave https://orcid.org/0000-0003-4606-0597 https://webvision.med.utah.edu/ increase in the time from the onset of light stimulus to the peak of the c-wave 2021-01-07T15:49:49Z delayed c-wave implicit time prolonged c-wave implicit time MPheno.ontology MP:0020960 increased c-wave implicit time MP:0020960 increase in the time from the onset of light stimulus to the peak of the c-wave https://orcid.org/0000-0003-4606-0597 https://webvision.med.utah.edu/ anomaly in the size (height or maximum displacement) of the c-wave as measured in the electroretinogram 2021-01-07T19:36:48Z MPheno.ontology MP:0020961 abnormal c-wave amplitude MP:0020961 anomaly in the size (height or maximum displacement) of the c-wave as measured in the electroretinogram KOMP:abby-jones increase in the size (height or maximum displacement) of the c-wave as measured in the electroretinogram 2021-01-07T19:37:19Z MPheno.ontology MP:0020962 increased c-wave amplitude MP:0020962 increase in the size (height or maximum displacement) of the c-wave as measured in the electroretinogram https://orcid.org/0000-0003-4606-0597 reduction in the size (height or maximum displacement) of the c-wave as measured in the electroretinogram 2021-01-07T19:37:37Z attenuated c-wave amplitude reduced c-wave amplitude MPheno.ontology MP:0020963 decreased c-wave amplitude MP:0020963 reduction in the size (height or maximum displacement) of the c-wave as measured in the electroretinogram https://orcid.org/0000-0003-4606-0597 any anomaly in the regulated release of any of the contents of platelet dense granules, such as cations (Ca2+, Mg2+, K+), polyphosphates, nucleotides (ADP, ATP, GTP) or bioactive amines (serotonin and histamine) 2021-01-07T20:48:13Z abnormal platelet dense granule exocytosis MPheno.ontology MP:0020964 abnormal platelet dense granule secretion MP:0020964 any anomaly in the regulated release of any of the contents of platelet dense granules, such as cations (Ca2+, Mg2+, K+), polyphosphates, nucleotides (ADP, ATP, GTP) or bioactive amines (serotonin and histamine) PMID:25879272 PMID:25999457 increase in the regulated release of any of the contents of platelet dense granules, such as cations (Ca2+, Mg2+, K+), polyphosphates, nucleotides (ADP, ATP, GTP) or bioactive amines (serotonin and histamine) 2021-01-07T20:52:12Z elevated platelet dense granule secretion MPheno.ontology MP:0020965 increased platelet dense granule secretion MP:0020965 increase in the regulated release of any of the contents of platelet dense granules, such as cations (Ca2+, Mg2+, K+), polyphosphates, nucleotides (ADP, ATP, GTP) or bioactive amines (serotonin and histamine) https://orcid.org/0000-0003-4606-0597 decrease in the regulated release of any of the contents of platelet dense granules, such as cations (Ca2+, Mg2+, K+), polyphosphates, nucleotides (ADP, ATP, GTP) or bioactive amines (serotonin and histamine) 2021-01-07T20:52:34Z decreased platelet dense granule exocytosis reduced platelet dense granule secretion MPheno.ontology MP:0020966 decreased platelet dense granule secretion MP:0020966 decrease in the regulated release of any of the contents of platelet dense granules, such as cations (Ca2+, Mg2+, K+), polyphosphates, nucleotides (ADP, ATP, GTP) or bioactive amines (serotonin and histamine) https://orcid.org/0000-0003-4606-0597 absence of the regulated release of any of the contents of platelet dense granules, such as cations (Ca2+, Mg2+, K+), polyphosphates, nucleotides (ADP, ATP, GTP) or bioactive amines (serotonin and histamine) 2021-01-08T15:35:22Z MPheno.ontology MP:0020967 absent platelet dense granule secretion MP:0020967 absence of the regulated release of any of the contents of platelet dense granules, such as cations (Ca2+, Mg2+, K+), polyphosphates, nucleotides (ADP, ATP, GTP) or bioactive amines (serotonin and histamine) https://orcid.org/0000-0003-4606-0597 increase in the ability of an animal to learn to avoid food sources that were previously associated with aversive internal stimuli or sickness such as a drug that induces sickness 2021-01-08T15:39:53Z enhanced conditioned taste aversion behaviour increased conditioned taste aversion behavior MPheno.ontology MP:0020968 enhanced conditioned taste aversion behavior MP:0020968 increase in the ability of an animal to learn to avoid food sources that were previously associated with aversive internal stimuli or sickness such as a drug that induces sickness PMID:11958542 https://orcid.org/0000-0001-5356-4174 decrease in the ability of an animal to learn to avoid food sources that were previously associated with aversive internal stimuli or sickness such as a drug that induces sickness 2021-01-08T15:40:15Z decreased conditioned taste aversion behavior impaired conditioned taste aversion behaviour reduced conditioned taste aversion behavior MPheno.ontology MP:0020969 impaired conditioned taste aversion behavior MP:0020969 decrease in the ability of an animal to learn to avoid food sources that were previously associated with aversive internal stimuli or sickness such as a drug that induces sickness PMID:11958542 https://orcid.org/0000-0001-5356-4174 any anomaly in the process by which neurotransmitters are renewed, frequently measured as a ratio of metabolite(s) of the neurotransmitter to the neurotransmitter itself 2021-01-08T18:43:12Z MPheno.ontology MP:0020970 abnormal neurotransmitter turnover MP:0020970 any anomaly in the process by which neurotransmitters are renewed, frequently measured as a ratio of metabolite(s) of the neurotransmitter to the neurotransmitter itself PMID:30759250 https://link.springer.com/chapter/10.1007/978-1-4615-9778-0_1 https://pubmed.ncbi.nlm.nih.gov/19873346/ increase in the process by which neurotransmitters are renewed, frequently measured as a ratio of metabolite(s) of the neurotransmitter to the neurotransmitter itself 2021-01-08T18:45:36Z elevated neurotransmitter turnover MPheno.ontology MP:0020971 increased neurotransmitter turnover MP:0020971 increase in the process by which neurotransmitters are renewed, frequently measured as a ratio of metabolite(s) of the neurotransmitter to the neurotransmitter itself PMID:30759250 https://pubmed.ncbi.nlm.nih.gov/19873346/ reduction in the process by which neurotransmitters are renewed, frequently measured as a ratio of metabolite(s) of the neurotransmitter to the neurotransmitter itself 2021-01-08T18:45:54Z impaired neurotransmitter turnover reduced neurotransmitter turnover MPheno.ontology MP:0020972 decreased neurotransmitter turnover MP:0020972 reduction in the process by which neurotransmitters are renewed, frequently measured as a ratio of metabolite(s) of the neurotransmitter to the neurotransmitter itself PMID:30759250 https://pubmed.ncbi.nlm.nih.gov/19873346/ any anomaly in the process whose specific outcome is the progression of a gland over time, from its formation to the mature structure 2021-01-08T19:30:55Z MPheno.ontology MP:0020973 abnormal gland development MP:0020973 any anomaly in the process whose specific outcome is the progression of a gland over time, from its formation to the mature structure GO:0048732 any anomaly in the graphical representation of the FO-wave in the electroretinogram; the ERG FO-wave can be used to assess the functional integrity of the photoreceptors, the pigment epithelial cells and the interactions between them 2021-01-08T20:06:07Z abnormal fast oscillation wave shape MPheno.ontology MP:0020974 abnormal FO-wave shape MP:0020974 any anomaly in the graphical representation of the FO-wave in the electroretinogram; the ERG FO-wave can be used to assess the functional integrity of the photoreceptors, the pigment epithelial cells and the interactions between them KOMP:abby-jones PMID:30040236 anomaly in the size (height or maximum displacement) of the FO-wave as measured in the electroretinogram 2021-01-08T20:09:23Z abnormal fast oscillation wave amplitude MPheno.ontology MP:0020975 abnormal FO-wave amplitude MP:0020975 anomaly in the size (height or maximum displacement) of the FO-wave as measured in the electroretinogram KOMP:abby-jones PMID:30040236 increase in the size (height or maximum displacement) of the FO-wave as measured in the electroretinogram 2021-01-08T20:12:40Z increased fast oscillation wave amplitude MPheno.ontology MP:0020976 increased FO-wave amplitude MP:0020976 increase in the size (height or maximum displacement) of the FO-wave as measured in the electroretinogram https://orcid.org/0000-0003-4606-0597 decrease in the size (height or maximum displacement) of the FO-wave as measured in the electroretinogram 2021-01-08T20:12:52Z decreased fast oscillation wave amplitude reduced FO-wave ampltude MPheno.ontology MP:0020977 decreased FO-wave amplitude MP:0020977 decrease in the size (height or maximum displacement) of the FO-wave as measured in the electroretinogram https://orcid.org/0000-0003-4606-0597 anomaly in the time from the onset of light stimulus to the peak of the FO-wave 2021-01-08T20:17:14Z abnormal fast oscillation wave implicit time MPheno.ontology MP:0020978 abnormal FO-wave implicit time MP:0020978 anomaly in the time from the onset of light stimulus to the peak of the FO-wave KOMP:abby-jones PMID:30040236 decrease in the time from the onset of light stimulus to the peak of the FO-wave 2021-01-08T20:32:04Z faster FO-wave implicit time MPheno.ontology MP:0020979 decreased FO-wave implicit time MP:0020979 decrease in the time from the onset of light stimulus to the peak of the FO-wave https://orcid.org/0000-0003-4606-0597 increase in the time from the onset of light stimulus to the peak of the FO-wave 2021-01-08T20:32:20Z delayed FO-wave implicit time prolonged FO-wave implicit time MPheno.ontology MP:0020980 increased FO-wave implicit time MP:0020980 increase in the time from the onset of light stimulus to the peak of the FO-wave https://orcid.org/0000-0003-4606-0597 any anomaly in the process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure 2021-01-08T21:01:54Z MPheno.ontology MP:0020981 abnormal immune system development MP:0020981 any anomaly in the process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure GO:0002520 any anomaly in the process whose specific outcome is the progression of the tissues or structures associated with or embedded in the skin over time, from formation to the mature structure 2021-01-08T21:13:42Z abnormal skin accessory structure development MPheno.ontology MP:0020982 abnormal skin adnexa development MP:0020982 any anomaly in the process whose specific outcome is the progression of the tissues or structures associated with or embedded in the skin over time, from formation to the mature structure https://orcid.org/0000-0003-4606-0597 any anomaly in the concentration in the blood of factor XI, also known as plasma thromboplastin antecedent, one of the serine proteases of the coagulation cascade 2021-01-11T20:34:23Z MPheno.ontology MP:0020983 abnormal circulating factor XI level MP:0020983 any anomaly in the concentration in the blood of factor XI, also known as plasma thromboplastin antecedent, one of the serine proteases of the coagulation cascade PMID:1169825 https://orcid.org/0000-0001-5356-4174 decrease in the concentration in the blood of factor XI, also known as plasma thromboplastin antecedent, one of the serine proteases of the coagulation cascade 2021-01-11T20:39:01Z reduced circulating factor XI level MPheno.ontology MP:0020984 decreased circulating factor XI level MP:0020984 decrease in the concentration in the blood of factor XI, also known as plasma thromboplastin antecedent, one of the serine proteases of the coagulation cascade PMID:1169825 https://orcid.org/0000-0001-5356-4174 increase in the concentration in the blood of factor XI, also known as plasma thromboplastin antecedent, one of the serine proteases of the coagulation cascade 2021-01-11T20:39:11Z elevated circulating factor XI level MPheno.ontology MP:0020985 increased circulating factor XI level MP:0020985 increase in the concentration in the blood of factor XI, also known as plasma thromboplastin antecedent, one of the serine proteases of the coagulation cascade PMID:1169825 https://orcid.org/0000-0001-5356-4174 any anomaly in the concentration in the blood of ceruloplasmin, a ferroxidase enzyme that contains copper atoms in its structure and is the major carrier of copper in the blood 2021-01-11T21:28:02Z MPheno.ontology MP:0020986 abnormal circulating ceruloplasmin level MP:0020986 any anomaly in the concentration in the blood of ceruloplasmin, a ferroxidase enzyme that contains copper atoms in its structure and is the major carrier of copper in the blood https://en.wikipedia.org/wiki/Ceruloplasmin any anomaly in the amount in the urine of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores 2021-01-15T19:06:08Z abnormal urine LCN2 level abnormal urine NGAL level abnormal urine neutrophil gelatinase-associated lipocalin level MPheno.ontology MP:0020987 abnormal urine lipocalin 2 level MP:0020987 any anomaly in the amount in the urine of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores PMID:29437896 https://en.wikipedia.org/wiki/Lipocalin-2 https://orcid.org/0000-0002-9553-7227 reduction in the amount in the urine of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores 2021-01-15T19:11:07Z decreased urine NGAL level decreased urine neutrophil gelatinase-associated lipocalin level reduced urine LCN2 level reduced urine lipocalin 2 level MPheno.ontology MP:0020988 decreased urine lipocalin 2 level MP:0020988 reduction in the amount in the urine of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores PMID:29437896 https://orcid.org/0000-0002-9553-7227 increase in the amount in the urine of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores 2021-01-15T19:11:16Z increased urine LCN2 level increased urine NGAL level increased urine neutrophil gelatinase-associated lipocalin level MPheno.ontology MP:0020989 increased urine lipocalin 2 level MP:0020989 increase in the amount in the urine of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores PMID:29437896 https://orcid.org/0000-0002-9553-7227 any anomaly in the amount in the urine of HAVCR1, a membrane receptor for both human hepatitis A virus (HHAV) and Timd4 that is frequently upregulated in response to kidney injury 2021-01-15T19:23:52Z abnormal urine KIM1 level MPheno.ontology MP:0020990 abnormal urine HAVCR1 level MP:0020990 any anomaly in the amount in the urine of HAVCR1, a membrane receptor for both human hepatitis A virus (HHAV) and Timd4 that is frequently upregulated in response to kidney injury PMID:29437896 https://en.wikipedia.org/wiki/HAVCR1 https://orcid.org/0000-0002-9553-7227 reduction in the amount in the urine of HAVCR1, a membrane receptor for both human hepatitis A virus (HHAV) and Timd4 that is frequently upregulated in response to kidney injury 2021-01-15T19:28:30Z decreased urine KIM1 level reduced urine KIM1 level MPheno.ontology MP:0020991 decreased urine HAVCR1 level MP:0020991 reduction in the amount in the urine of HAVCR1, a membrane receptor for both human hepatitis A virus (HHAV) and Timd4 that is frequently upregulated in response to kidney injury PMID:29437896 https://en.wikipedia.org/wiki/HAVCR1 https://orcid.org/0000-0002-9553-7227 increase in the amount in the urine of HAVCR1, a membrane receptor for both human hepatitis A virus (HHAV) and Timd4 that is frequently upregulated in response to kidney injury 2021-01-15T19:29:23Z increased urine KIM1 level MPheno.ontology MP:0020992 increased urine HAVCR1 level MP:0020992 increase in the amount in the urine of HAVCR1, a membrane receptor for both human hepatitis A virus (HHAV) and Timd4 that is frequently upregulated in response to kidney injury PMID:29437896 https://en.wikipedia.org/wiki/HAVCR1 https://orcid.org/0000-0002-9553-7227 any anomaly in the amount in the urine of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells 2021-01-15T19:55:07Z MPheno.ontology MP:0020993 abnormal urine cytokine level MP:0020993 any anomaly in the amount in the urine of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells ISBN:0-8153-1691-7 any anomaly in the amount in the urine of osteopontin, a proinflammatory cytokine that upregulates expression of interferon-gamma and interleukin-12 and is a key factor in tissue repair after injury 2021-01-15T19:58:59Z abnormal urine OPN level abnormal urine OSP level abnormal urine SPP1 level MPheno.ontology MP:0020994 abnormal urine osteopontin level MP:0020994 any anomaly in the amount in the urine of osteopontin, a proinflammatory cytokine that upregulates expression of interferon-gamma and interleukin-12 and is a key factor in tissue repair after injury PMID:28698867 PMID:29437896 https://orcid.org/0000-0002-9553-7227 reduction in the amount in the urine of osteopontin, a proinflammatory cytokine that upregulates expression of interferon-gamma and interleukin-12 and is a key factor in tissue repair after injury 2021-01-15T20:05:23Z decreased urine OPN level decreased urine OSP level reduced urine SPP1 level reduced urine osteopontin level MPheno.ontology MP:0020995 decreased urine osteopontin level MP:0020995 reduction in the amount in the urine of osteopontin, a proinflammatory cytokine that upregulates expression of interferon-gamma and interleukin-12 and is a key factor in tissue repair after injury PMID:28698867 PMID:29437896 https://orcid.org/0000-0002-9553-7227 increase in the amount in the urine of osteopontin, a proinflammatory cytokine that upregulates expression of interferon-gamma and interleukin-12 and is a key factor in tissue repair after injury 2021-01-15T20:05:33Z increased urine OPN level increased urine OSP level increased urine SPP1 level MPheno.ontology MP:0020996 increased urine osteopontin level MP:0020996 increase in the amount in the urine of osteopontin, a proinflammatory cytokine that upregulates expression of interferon-gamma and interleukin-12 and is a key factor in tissue repair after injury PMID:28698867 PMID:29437896 https://orcid.org/0000-0002-9553-7227 anomaly in the quantity of adipose tissue beneath the skin 2021-01-26T16:45:37Z MPheno.ontology MP:0020997 abnormal subcutaneous adipose tissue amount MP:0020997 anomaly in the quantity of adipose tissue beneath the skin https://orcid.org/0000-0003-4606-0597 any anomaly in the weight of the encapsulated adipose tissue associated with the epididymis 2021-01-26T17:10:26Z abnormal epididymal fat depot weight abnormal periepididymal fat pad weight MPheno.ontology MP:0020998 abnormal epididymal fat pad weight MP:0020998 any anomaly in the weight of the encapsulated adipose tissue associated with the epididymis https://orcid.org/0000-0003-4606-0597 any anomaly in the length of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum 2021-01-26T17:30:37Z MPheno.ontology MP:0020999 abnormal small intestine length MP:0020999 any anomaly in the length of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum https://orcid.org/0000-0003-4606-0597 any anomaly in the weight of the large sac at the ileum and large intestine junction 2021-01-26T17:36:18Z abnormal caecum weight MPheno.ontology MP:0021000 abnormal cecum weight MP:0021000 any anomaly in the weight of the large sac at the ileum and large intestine junction https://orcid.org/0000-0003-4606-0597 any anomaly resulting in reduced function of a neuron 2021-07-19T19:30:41Z impaired neuronal physiology neuronal dysfunction MPheno.ontology MP:0021001 impaired neuron physiology MP:0021001 any anomaly resulting in reduced function of a neuron PMID:9130294 focal pathological changes characterized by alteration in the size, shape and organization of the cellular components of the brain tissue 2021-07-19T19:38:11Z cerebral lesion MPheno.ontology MP:0021002 brain lesion MP:0021002 focal pathological changes characterized by alteration in the size, shape and organization of the cellular components of the brain tissue PMID:10867785 a necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors 2021-07-19T19:42:00Z brain infarct cerebrum infarct MPheno.ontology MP:0021003 cerebral infarct MP:0021003 a necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors PMID:10867785 an infarct found in the cerebrum that can only be observed microscopically 2021-07-20T18:14:38Z brain microinfarct cerebrum microinfarct MPheno.ontology MP:0021004 cerebral microinfarct MP:0021004 an infarct found in the cerebrum that can only be observed microscopically PMID:10867785 an infarct located on the outer layer of the cerebrum that can only be observed microscopically 2021-07-20T18:20:38Z cortical microinfarct MPheno.ontology MP:0021005 cerebral cortex microinfarct MP:0021005 an infarct located on the outer layer of the cerebrum that can only be observed microscopically PMID:10867785 an infarct located in the hippocampus that can only be observed microscopically 2021-07-20T18:44:03Z MPheno.ontology MP:0021006 hippocampal microinfarct MP:0021006 an infarct located in the hippocampus that can only be observed microscopically PMID:10867785 an infarct located in the amygdala that can only be observed microscopically 2021-07-20T18:55:10Z MPheno.ontology MP:0021007 amygdala microinfarct MP:0021007 an infarct located in the amygdala that can only be observed microscopically PMID:10867785 acquired diminution of the size of the lower lateral part of the cerebral hemisphere 2021-07-20T19:25:46Z atrophy of temporal lobe MPheno.ontology MP:0021008 temporal lobe atrophy MP:0021008 acquired diminution of the size of the lower lateral part of the cerebral hemisphere PMID:9130294 any functional anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means 2021-07-20T19:41:01Z abnormal synapse physiology MPheno.ontology MP:0021009 abnormal synaptic physiology MP:0021009 any functional anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means PMID:30439458 any functional impairment of a synapse 2021-07-20T19:48:47Z impaired synapse function synaptic dysfunction MPheno.ontology MP:0021010 impaired synaptic physiology MP:0021010 any functional impairment of a synapse PMID:30439458 acquired diminution of the size of the upper central part of the cerebral hemisphere associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes 2021-07-20T20:32:28Z atrophy of the parietal lobe MPheno.ontology MP:0021011 parietal cortex atrophy MP:0021011 acquired diminution of the size of the upper central part of the cerebral hemisphere associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes PMID:18413473 less than the normal amount of acetylcholine 2021-07-22T17:44:39Z decreased Ach level reduced Ach level MPheno.ontology MP:0021012 decreased acetylcholine level MP:0021012 less than the normal amount of acetylcholine PMID:12163621 any anomaly in the vesicle-mediated transport process in which neuronal cells form a new membrane-bounded vesicle by the invagination of a small region of the synaptic plasma membrane 2021-07-22T17:54:38Z MPheno.ontology MP:0021013 abnormal synaptic vesicle endocytosis MP:0021013 any anomaly in the vesicle-mediated transport process in which neuronal cells form a new membrane-bounded vesicle by the invagination of a small region of the synaptic plasma membrane PMID:10072535 any anomaly in the process by which a phosphate group is introduced to the tau protein 2021-07-22T20:03:47Z MPheno.ontology MP:0021014 abnormal tau protein phosphorylation MP:0021014 any anomaly in the process by which a phosphate group is introduced to the tau protein PMID:23847585 PMID:28625569 increase in the process by which a phosphate group is introduced to the tau protein 2021-07-22T20:08:17Z elevated tau protein phosphorylation MPheno.ontology hyperphosphorylated tau MP:0021015 accumulation of aggregates of hyperphosphorylated tau protein are associated with many neurodegenerative disease including Alzheimer Disease, progressive supranuclear palsy, and some types of frontotemporal dementia increased tau protein phosphorylation MP:0021015 increase in the process by which a phosphate group is introduced to the tau protein PMID:23847585 PMID:28625569 decrease in the process by which a phosphate group is introduced to the tau protein 2021-07-22T20:13:33Z reduced tau protein phosphorylation MPheno.ontology MP:0021016 decreased tau protein phosphorylation MP:0021016 decrease in the process by which a phosphate group is introduced to the tau protein PMID:23847585 PMID:28625569 any anomaly in the number of spines on a dendrite 2021-07-26T19:25:24Z MPheno.ontology MP:0021017 abnormal dendritic spine number MP:0021017 any anomaly in the number of spines on a dendrite PMID:8046469 fewer than the expected number of spines on a given dendrite 2021-07-26T19:28:15Z decreased dendrite branch number reduced dendritic spine number MPheno.ontology MP:0021018 decreased dendritic spine number MP:0021018 fewer than the expected number of spines on a given dendrite PMID:8046469 greater than the expected number of spines on a given dendrite 2021-07-26T19:32:19Z elevated dendritic branch number MPheno.ontology MP:0021019 increased dendritic spine number MP:0021019 greater than the expected number of spines on a given dendrite PMID:8046469 degenerated neurite(s) that may be the end result of genetic abnormalities or inadequate or faulty metabolism 2021-07-26T19:48:26Z dystrophic neurite MPheno.ontology MP:0021020 neurite dystrophy MP:0021020 degenerated neurite(s) that may be the end result of genetic abnormalities or inadequate or faulty metabolism PMID:30899091 any anomaly in the process by which noradrenaline is broken down and renewed in the adipose tissue 2021-12-10T20:21:57Z abnormal adipose tissue norepinephrine turnover MPheno.ontology MP:0021021 abnormal adipose tissue noradrenaline turnover MP:0021021 any anomaly in the process by which noradrenaline is broken down and renewed in the adipose tissue PMID:23555928 any reduction in the process by which noradrenaline is broken down and renewed in the adipose tissue 2021-12-10T20:35:47Z decreased adipose tissue norepinephrine turnover reduced adipose tissue noradrenaline turnover MPheno.ontology MP:0021022 decreased adipose tissue noradrenaline turnover MP:0021022 any reduction in the process by which noradrenaline is broken down and renewed in the adipose tissue PMID:23555928 any increase in the process by which noradrenaline is broken down and renewed in the adipose tissue 2021-12-10T20:35:58Z elevated adipose tissue noradrenaline turnover increased adipose tissue norepinephrine turnover MPheno.ontology MP:0021023 increased adipose tissue noradrenaline turnover MP:0021023 any increase in the process by which noradrenaline is broken down and renewed in the adipose tissue PMID:23555928 any functional anomaly of the fluid that the occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord and/or its suspended elements 2021-12-10T21:07:53Z MPheno.ontology MP:0021024 abnormal cerebrospinal fluid physiology MP:0021024 any functional anomaly of the fluid that the occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord and/or its suspended elements UBERON:0001359 increase in the amount of amyloid beta 40 found in cerebrospinal fluid 2021-12-10T21:18:29Z elevated cerebrospinal fluid amyloid beta 40 isoform level increased cerebrospinal fluid Abeta 40 level increased cerebrospinal fluid beta amyloid 40 level MPheno.ontology MP:0021025 increased cerebrospinal fluid amyloid beta 40 isoform level MP:0021025 increase in the amount of amyloid beta 40 found in cerebrospinal fluid PMID:19273758 reduction in the amount of amyloid beta 40 found in cerebrospinal fluid 2021-12-10T21:18:39Z decreased cerebrospinal fluid Abeta 40 level decreased cerebrospinal fluid beta amyloid 40 level reduced cerebrospinal fluid amyloid beta 40 isoform level MPheno.ontology MP:0021026 decreased cerebrospinal fluid amyloid beta 40 isoform level MP:0021026 reduction in the amount of amyloid beta 40 found in cerebrospinal fluid PMID:19273758 any anomaly in the amount of amyloid beta 40 found in cerebrospinal fluid 2021-12-10T21:18:51Z abnormal cerebrospinal fluid Abeta 40 level abnormal cerebrospinal fluid beta amyloid 40 level MPheno.ontology MP:0021027 abnormal cerebrospinal fluid amyloid beta 40 isoform level MP:0021027 any anomaly in the amount of amyloid beta 40 found in cerebrospinal fluid PMID:19273758 anomaly in the amount of TNF superfamily member 11 protein 2021-12-13T21:27:46Z abnormal OPGL level abnormal RANKL level abnormal Tnfsf11 level abnormal osteoprotegerin ligand level abnormal receptor activator of nuclear factor kappa B ligand level MPheno.ontology MP:0021028 abnormal tumor necrosis factor (ligand) superfamily member 11 level MP:0021028 anomaly in the amount of TNF superfamily member 11 protein PMID:20643942 increase in the amount of TNF superfamily member 11 protein 2021-12-13T21:34:03Z elevated RANKL level increased OPGL level increased Tnfsf11 level increased osteoprotegerin ligand level increased receptor activator of nuclear factor kappa B ligand level MPheno.ontology MP:0021029 increased tumor necrosis factor (ligand) superfamily member 11 level MP:0021029 increase in the amount of TNF superfamily member 11 protein PMID:20643942 decrease in the amount of TNF superfamily member 11 protein 2021-12-13T21:34:15Z decreased RANKL level decreased Tnfsf11 level decreased osteoprotegerin ligand level decreased receptor activator of nuclear factor kappa B ligand level reduced OPGL level MPheno.ontology MP:0021030 decreased tumor necrosis factor (ligand) superfamily member 11 level MP:0021030 decrease in the amount of TNF superfamily member 11 protein PMID:20643942 anomaly in the amount of tumor necrosis factor receptor superfamily member 11b protein 2021-12-14T19:11:38Z abnormal Opg level abnormal Tnfrsf11b level abnormal osteoprotegerin level MPheno.ontology MP:0021031 abnormal tumor necrosis factor receptor superfamily member 11b level MP:0021031 anomaly in the amount of tumor necrosis factor receptor superfamily member 11b protein PMID:20643942 increase in the amount of tumor necrosis factor receptor superfamily member 11b protein 2021-12-14T19:12:06Z elevated osteoprotegerin level increased Opg level increased Tnfrsf11b level MPheno.ontology MP:0021032 increased tumor necrosis factor receptor superfamily member 11b level MP:0021032 increase in the amount of tumor necrosis factor receptor superfamily member 11b protein PMID:20643942 decrease in the amount of tumor necrosis factor receptor superfamily member 11b protein 2021-12-14T19:12:16Z decreased Opg level decreased Tnfrsf11b level reduced osteoprotegerin level MPheno.ontology MP:0021033 decreased tumor necrosis factor receptor superfamily member 11b level MP:0021033 decrease in the amount of tumor necrosis factor receptor superfamily member 11b protein PMID:20643942 any anomaly in the amount of cartilage oligomeric matrix protein, often used as a marker for cartilage turnover, in the blood, plasma, or serum 2021-12-14T19:44:09Z abnormal circulating COMP level MPheno.ontology MP:0021034 abnormal circulating cartilage oligomeric matrix protein level MP:0021034 any anomaly in the amount of cartilage oligomeric matrix protein, often used as a marker for cartilage turnover, in the blood, plasma, or serum PMID:31963737 PMID:8909256 decrease in the amount of cartilage oligomeric matrix protein in the blood, plasma, or serum 2021-12-14T19:44:22Z reduced circulating COMP level MPheno.ontology MP:0021035 decreased circulating cartilage oligomeric matrix protein level MP:0021035 decrease in the amount of cartilage oligomeric matrix protein in the blood, plasma, or serum PMID:8909256 increase in the amount of cartilage oligomeric matrix protein in the blood, plasma, or serum 2021-12-14T19:44:34Z elevated circulating COMP level MPheno.ontology MP:0021036 increased circulating cartilage oligomeric matrix protein level MP:0021036 increase in the amount of cartilage oligomeric matrix protein in the blood, plasma, or serum PMID:8909256 any anomaly in the amount of the acute phase protein orosomucoid 1 in the blood, serum, or plasma 2021-12-14T21:13:58Z abnormal ORM1 level abnormal acute-phase protein alpha1-acid-glycoprotein level abnormal acute-phase reactant AGP level abnormal alpha1-acid-glycoprotein level MPheno.ontology MP:0021037 abnormal circulating orosomucoid 1 protein level MP:0021037 any anomaly in the amount of the acute phase protein orosomucoid 1 in the blood, serum, or plasma PMID:11058758 increase in the amount of the acute phase protein orosomucoid 1 in the blood, serum, or plasma 2021-12-14T21:14:56Z elevated acute-phase reactant AGP level increased ORM1 level increased acute-phase protein alpha1-acid-glycoprotein level increased alpha1-acid-glycoprotein level MPheno.ontology MP:0021038 increased circulating orosomucoid 1 protein level MP:0021038 increase in the amount of the acute phase protein orosomucoid 1 in the blood, serum, or plasma PMID:11058758 decrease in the amount of the acute phase protein orosomucoid 1 in the blood, serum, or plasma 2021-12-14T21:15:09Z decreased ORM1 level decreased acute-phase reactant AGP level decreased alpha1-acid-glycoprotein level reduced acute-phase protein alpha1-acid-glycoprotein level MPheno.ontology MP:0021039 decreased circulating orosomucoid 1 protein level MP:0021039 decrease in the amount of the acute phase protein orosomucoid 1 in the blood, serum, or plasma PMID:11058758 any anomaly in the amount of the complex of low density lipoproteins, small (18-25 nm) and low density (1.019-1.063 g/ml) particles, and phospholipids in the blood, plasma, or serum 2021-12-15T21:03:10Z MPheno.ontology MP:0021040 abnormal circulating LDL phospholipid level MP:0021040 any anomaly in the amount of the complex of low density lipoproteins, small (18-25 nm) and low density (1.019-1.063 g/ml) particles, and phospholipids in the blood, plasma, or serum CHEBI:16247 CHEBI:39026 PMID:8301098 any anomaly in the amount of the complex of very low density lipoproteins, large (30-80 nm) and very low density (0.93-1.006 g/ml) particles, and phospholipids in the blood, plasma, or serum 2021-12-15T21:03:28Z MPheno.ontology MP:0021041 abnormal circulating VLDL phospholipid level MP:0021041 any anomaly in the amount of the complex of very low density lipoproteins, large (30-80 nm) and very low density (0.93-1.006 g/ml) particles, and phospholipids in the blood, plasma, or serum CHEBI:16247 CHEBI:39027 PMID:8301098 increase in the amount of the complex of low density lipoproteins and phospholipids in the blood, plasma, or serum 2021-12-15T21:04:39Z elevated circulating LDL phospholipid level MPheno.ontology MP:0021042 increased circulating LDL phospholipid level MP:0021042 increase in the amount of the complex of low density lipoproteins and phospholipids in the blood, plasma, or serum CHEBI:16247 CHEBI:39026 PMID:8301098 decrease in the amount of the complex of low density lipoproteins and phospholipids in the blood, plasma, or serum 2021-12-15T21:04:57Z reduced circulating LDL phospholipid level MPheno.ontology MP:0021043 decreased circulating LDL phospholipid level MP:0021043 decrease in the amount of the complex of low density lipoproteins and phospholipids in the blood, plasma, or serum CHEBI:16247 CHEBI:39026 PMID:8301098 increase in the amount of the complex of very low density lipoproteins and phospholipids in the blood, plasma, or serum 2021-12-15T21:05:17Z elevated circulating VLDL phospholipid level MPheno.ontology MP:0021044 increased circulating VLDL phospholipid level MP:0021044 increase in the amount of the complex of very low density lipoproteins and phospholipids in the blood, plasma, or serum CHEBI:16247 CHEBI:39027 PMID:8301098 decrease in the amount of the complex of very low density lipoproteins and phospholipids in the blood, plasma, or serum 2021-12-15T21:05:29Z reduced circulating VLDL phospholipid level MPheno.ontology MP:0021045 decreased circulating VLDL phospholipid level MP:0021045 decrease in the amount of the complex of very low density lipoproteins and phospholipids in the blood, plasma, or serum CHEBI:16247 CHEBI:39027 PMID:8301098 any anomaly in the amount of the complex of high density lipoproteins, small (4-13 nm) and dense (greater than 1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum 2021-12-17T16:13:45Z MPheno.ontology MP:0021046 abnormal circulating HDL triglyceride level MP:0021046 any anomaly in the amount of the complex of high density lipoproteins, small (4-13 nm) and dense (greater than 1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum CHEBI:17855 CHEBI:39025 PMID:8301098 any anomaly in the amount of the complex of low density lipoproteins, small (18-25 nm) and low density (1.019-1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum 2021-12-17T16:14:01Z MPheno.ontology MP:0021047 abnormal circulating LDL triglyceride level MP:0021047 any anomaly in the amount of the complex of low density lipoproteins, small (18-25 nm) and low density (1.019-1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum CHEBI:17855 CHEBI:39026 PMID:8301098 increase in the amount of the complex of low density lipoproteins, small (18-25 nm) and low density (1.019-1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum 2021-12-17T16:14:46Z elevated circulating LDL triglyceride level MPheno.ontology MP:0021048 increased circulating LDL triglyceride level MP:0021048 increase in the amount of the complex of low density lipoproteins, small (18-25 nm) and low density (1.019-1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum CHEBI:17855 CHEBI:39026 PMID:8301098 decrease in the amount of the complex of low density lipoproteins, small (18-25 nm) and low density (1.019-1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum 2021-12-17T16:14:58Z reduced circulating LDL triglyceride level MPheno.ontology MP:0021049 decreased circulating LDL triglyceride level MP:0021049 decrease in the amount of the complex of low density lipoproteins, small (18-25 nm) and low density (1.019-1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum CHEBI:17855 CHEBI:39026 PMID:8301098 increase in the amount of the complex of high density lipoproteins, small (4-13 nm) and dense (greater than 1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum 2021-12-17T16:15:07Z elevated circulating HDL triglyceride level MPheno.ontology MP:0021050 increased circulating HDL triglyceride level MP:0021050 increase in the amount of the complex of high density lipoproteins, small (4-13 nm) and dense (greater than 1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum CHEBI:17855 CHEBI:39025 PMID:8301098 decrease in the amount of the complex of high density lipoproteins, small (4-13 nm) and dense (greater than 1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum 2021-12-17T16:15:16Z reduced circulating HDL triglyceride level MPheno.ontology MP:0021051 decreased circulating HDL triglyceride level MP:0021051 decrease in the amount of the complex of high density lipoproteins, small (4-13 nm) and dense (greater than 1.063 g/ml) particles, and triglyceride in the blood, plasma, or serum CHEBI:17855 CHEBI:39025 PMID:8301098 any anomaly in the processes that modulate the force with which blood travels through the renal circulatory system 2021-12-17T20:36:50Z MPheno.ontology MP:0021052 abnormal renal arterial blood pressure regulation MP:0021052 any anomaly in the processes that modulate the force with which blood travels through the renal circulatory system PMID:10070148 any anomaly in the tension of the blood within the renal arteries or arterioles 2021-12-17T20:41:10Z MPheno.ontology MP:0021053 abnormal renal arterial blood pressure MP:0021053 any anomaly in the tension of the blood within the renal arteries or arterioles PMID:10070148 increase in the tension of the blood within the renal arteries or arterioles 2021-12-17T20:46:07Z elevated renal arterial blood pressure MPheno.ontology MP:0021054 increased renal arterial blood pressure MP:0021054 increase in the tension of the blood within the renal arteries or arterioles PMID:10070148 decrease in the tension of the blood within the renal arteries or arterioles 2021-12-17T20:46:18Z reduced renal arterial blood pressure MPheno.ontology MP:0021055 decreased renal arterial blood pressure MP:0021055 decrease in the tension of the blood within the renal arteries or arterioles PMID:10070148 any structural anomaly of the network of tubes that carries blood within and/or around tumors 2021-12-17T21:28:11Z MPheno.ontology MP:0021056 abnormal tumor vascular morphology MP:0021056 any structural anomaly of the network of tubes that carries blood within and/or around tumors https://orcid.org/0000-0003-4606-0597 any anomaly in the structure of the extracellular space bounded by capillary endothelium on one side and parenchymal basement membrane on the other side in tumor blood vessels 2021-12-17T21:35:33Z abnormal tumor Virchow-Robin space morphology MPheno.ontology MP:0021057 abnormal tumor perivascular space morphology MP:0021057 any anomaly in the structure of the extracellular space bounded by capillary endothelium on one side and parenchymal basement membrane on the other side in tumor blood vessels PMID:16416090 increase in the size of the perivascular space in tumors 2021-12-17T21:40:13Z increased tumor Virchow-Robin space size MPheno.ontology MP:0021058 increased tumor perivascular space size MP:0021058 increase in the size of the perivascular space in tumors PMID:16416090 decrease in the size of the perivascular space in tumors 2021-12-17T21:40:23Z decreased tumor Virchow-Robin space size MPheno.ontology MP:0021059 decreased tumor perivascular space size MP:0021059 decrease in the size of the perivascular space in tumors PMID:16416090 any structural anomaly of the connective tissue cells that occur around capillaries or other small blood vessels within a tumor 2022-01-11T19:30:47Z abnormal tumor adventitial reticular cell morphology abnormal tumor cell of Rouget morphology abnormal tumor pericyte of Rouget morphology MPheno.ontology MP:0021060 abnormal tumor pericyte morphology MP:0021060 any structural anomaly of the connective tissue cells that occur around capillaries or other small blood vessels within a tumor CL:0000669 https://orcid.org/0000-0003-4606-0597 any anomaly in the number of pericytes found in the perivascular area of a tumor 2022-01-11T19:38:14Z MPheno.ontology MP:0021061 abnormal tumor pericyte number MP:0021061 any anomaly in the number of pericytes found in the perivascular area of a tumor PMID:16416090 https://orcid.org/0000-0003-4606-0597 increase in the number of pericytes found in the perivascular area of a tumor 2022-01-11T19:39:11Z elevated tumor pericyte number MPheno.ontology MP:0021062 increased tumor pericyte number MP:0021062 increase in the number of pericytes found in the perivascular area of a tumor PMID:16416090 https://orcid.org/0000-0003-4606-0597 decrease in the number of pericytes found in the perivascular area of a tumor 2022-01-11T19:39:25Z reduced tumor pericyte number MPheno.ontology MP:0021063 decreased tumor pericyte number MP:0021063 decrease in the number of pericytes found in the perivascular area of a tumor PMID:16416090 https://orcid.org/0000-0003-4606-0597 decrease in the number of pericytes that have not formed attachments to tumor blood vessels 2022-01-11T19:39:49Z reduced tumor nonattached pericyte number MPheno.ontology MP:0021064 decreased tumor nonattached pericyte number MP:0021064 decrease in the number of pericytes that have not formed attachments to tumor blood vessels PMID:16416090 decrease in the number of pericytes that have formed attachments to tumor blood vessels 2022-01-11T19:40:12Z reduced tumor attached pericyte number MPheno.ontology MP:0021065 decreased tumor attached pericyte number MP:0021065 decrease in the number of pericytes that have formed attachments to tumor blood vessels PMID:16416090 increase in the number of pericytes that have not formed attachments to tumor blood vessels 2022-01-11T19:40:30Z elevated tumor nonattached pericyte number MPheno.ontology MP:0021066 increased tumor nonattached pericyte number MP:0021066 increase in the number of pericytes that have not formed attachments to tumor blood vessels PMID:16416090 increase in the number of pericytes that have formed attachments to tumor blood vessels 2022-01-11T19:40:48Z elevated tumor attached pericyte number MPheno.ontology MP:0021067 increased tumor attached pericyte number MP:0021067 increase in the number of pericytes that have formed attachments to tumor blood vessels PMID:16416090 any anomaly in the concentration of the enzyme(s) that catalyzes the synthesis of nitric oxide from L-arginine 2022-01-11T21:27:55Z abnormal NOS level MPheno.ontology MP:0021068 abnormal nitric oxide synthase level MP:0021068 any anomaly in the concentration of the enzyme(s) that catalyzes the synthesis of nitric oxide from L-arginine PMID:32048631 https://orcid.org/0000-0003-3645-6803 reduction in the concentration of the constitutive neuronal enzyme that catalyzes the synthesis of nitric oxide from L-arginine 2022-01-11T21:28:41Z decreased NOS1 level decreased nNOS level MPheno.ontology MP:0021069 decreased nitric oxide synthase 1 level MP:0021069 reduction in the concentration of the constitutive neuronal enzyme that catalyzes the synthesis of nitric oxide from L-arginine PMID:32048631 https://orcid.org/0000-0003-3645-6803 elevated concentration of the constitutive neuronal enzyme that catalyzes the synthesis of nitric oxide from L-arginine 2022-01-11T21:28:59Z increased NOS1 level increased nNOS level MPheno.ontology MP:0021070 increased nitric oxide synthase 1 level MP:0021070 elevated concentration of the constitutive neuronal enzyme that catalyzes the synthesis of nitric oxide from L-arginine PMID:32048631 https://orcid.org/0000-0003-3645-6803 reduction in the concentration of the inducible enzyme that catalyzes the synthesis of nitric oxide from L-arginine 2022-01-11T21:29:12Z decreased NOS2 level decreased iNOS level MPheno.ontology MP:0021071 decreased nitric oxide synthase 2 level MP:0021071 reduction in the concentration of the inducible enzyme that catalyzes the synthesis of nitric oxide from L-arginine https://orcid.org/0000-0003-3645-6803 PMID:32048631 elevated concentration of the inducible enzyme that catalyzes the synthesis of nitric oxide from L-arginine 2022-01-11T21:29:23Z increased NOS2 level increased iNOS level MPheno.ontology MP:0021072 increased nitric oxide synthase 2 level MP:0021072 elevated concentration of the inducible enzyme that catalyzes the synthesis of nitric oxide from L-arginine PMID:32048631 https://orcid.org/0000-0003-3645-6803 reduction in the concentration of the constitutive endothelial enzyme that catalyzes the synthesis of nitric oxide from L-arginine 2022-01-11T21:29:42Z decreased NOS3 level decreased eNOS level MPheno.ontology MP:0021073 decreased nitric oxide synthase 3 level MP:0021073 reduction in the concentration of the constitutive endothelial enzyme that catalyzes the synthesis of nitric oxide from L-arginine PMID:32048631 https://orcid.org/0000-0003-3645-6803 increase in the concentration of the constitutive endothelial enzyme that catalyzes the synthesis of nitric oxide from L-arginine 2022-01-11T21:29:50Z increased NOS3 level increased eNOS level MPheno.ontology MP:0021074 increased nitric oxide synthase 3 level MP:0021074 increase in the concentration of the constitutive endothelial enzyme that catalyzes the synthesis of nitric oxide from L-arginine PMID:32048631 https://orcid.org/0000-0003-3645-6803 any anomaly in the concentration of the constitutive endothelial enzyme that catalyzes the synthesis of nitric oxide from L-arginine 2022-01-11T21:30:11Z abnormal NOS3 level abnormal eNOS level MPheno.ontology MP:0021075 abnormal nitric oxide synthase 3 level MP:0021075 any anomaly in the concentration of the constitutive endothelial enzyme that catalyzes the synthesis of nitric oxide from L-arginine PMID:32048631 any anomaly in the concentration of the constitutive neuronal enzyme that catalyzes the synthesis of nitric oxide from L-arginine 2022-01-11T21:30:19Z abnormal NOS1 level abnormal nNOS level MPheno.ontology MP:0021076 abnormal nitric oxide synthase 1 level MP:0021076 any anomaly in the concentration of the constitutive neuronal enzyme that catalyzes the synthesis of nitric oxide from L-arginine PMID:32048631 any anomaly in the concentration of the inducible enzyme that catalyzes the synthesis of nitric oxide from L-arginine 2022-01-11T21:30:28Z abnormal NOS2 level abnormal iNOS level MPheno.ontology MP:0021077 abnormal nitric oxide synthase 2 level MP:0021077 any anomaly in the concentration of the inducible enzyme that catalyzes the synthesis of nitric oxide from L-arginine PMID:32048631 any anomaly in the ratio of the concentrations of nitric oxide synthase 2 to nitric oxide synthase 3, two of the enzymes that catalyze the synthesis of nitric oxide from L-arginine 2022-01-11T21:40:34Z abnormal NOS2/NOS3 ratio abnormal iNOS/eNOS ratio MPheno.ontology MP:0021078 abnormal nitric oxide synthase 2 to nitric oxide synthase 3 ratio MP:0021078 any anomaly in the ratio of the concentrations of nitric oxide synthase 2 to nitric oxide synthase 3, two of the enzymes that catalyze the synthesis of nitric oxide from L-arginine PMID:32048631 increase in the ratio of the concentrations of nitric oxide synthase 2 and nitric oxide synthase 3, two of the enzymes that catalyze the synthesis of nitric oxide from L-arginine 2022-01-11T21:40:51Z elevated NOS2/NOS3 ratio increased iNOS/eNOS ratio MPheno.ontology MP:0021079 increased nitric oxide synthase 2 to nitric oxide synthase 3 ratio MP:0021079 increase in the ratio of the concentrations of nitric oxide synthase 2 and nitric oxide synthase 3, two of the enzymes that catalyze the synthesis of nitric oxide from L-arginine PMID:32048631 https://orcid.org/0000-0003-3645-6803 decrease in the ratio of the concentrations of nitric oxide synthase 2 and nitric oxide synthase 3, two of the enzymes that catalyze the synthesis of nitric oxide from L-arginine 2022-01-11T21:41:05Z decreased iNOS/eNOS ratio reduced NOS2/NOS3 ratio MPheno.ontology MP:0021080 decreased nitric oxide synthase 2 to nitric oxide synthase 3 ratio MP:0021080 decrease in the ratio of the concentrations of nitric oxide synthase 2 and nitric oxide synthase 3, two of the enzymes that catalyze the synthesis of nitric oxide from L-arginine PMID:32048631 https://orcid.org/0000-0003-3645-6803 any anomaly in the ability of cells to clear a ribosomal complex that has become stuck in the process of translational elongation 2022-02-15T19:20:45Z MPheno.ontology MP:0021081 abnormal ribosomal stalling MP:0021081 any anomaly in the ability of cells to clear a ribosomal complex that has become stuck in the process of translational elongation PMID:33966939 any anomaly in the amount of amyloid beta 42 found in cerebrospinal fluid 2022-02-15T20:43:51Z abnormal cerebrospinal fluid Abeta 42 level abnormal cerebrospinal fluid beta amyloid 42 level MPheno.ontology MP:0021082 abnormal cerebrospinal fluid amyloid beta 42 isoform level MP:0021082 any anomaly in the amount of amyloid beta 42 found in cerebrospinal fluid PMID:31391004 increase in the amount of amyloid beta 42 found in cerebrospinal fluid 2022-02-15T20:44:23Z elevated cerebrospinal fluid Abeta 42 level increased cerebrospinal fluid beta amyloid 42 level MPheno.ontology MP:0021083 increased cerebrospinal fluid amyloid beta 42 isoform level MP:0021083 increase in the amount of amyloid beta 42 found in cerebrospinal fluid PMID:31391004 reduction in the amount of amyloid beta 42 found in cerebrospinal fluid 2022-02-15T20:44:32Z decreased cerebrospinal fluid beta amyloid 42 level reduced cerebrospinal fluid Abeta 42 level MPheno.ontology MP:0021084 decreased cerebrospinal fluid amyloid beta 42 isoform level MP:0021084 reduction in the amount of amyloid beta 42 found in cerebrospinal fluid PMID:31391004 any anomaly in the chemical reactions and pathways resulting an increase in new strands of DNA being synthesized 2022-02-15T21:23:55Z elevated DNA replication MPheno.ontology accelerated DNA replication MP:0021085 increased DNA replication MP:0021085 any anomaly in the chemical reactions and pathways resulting an increase in new strands of DNA being synthesized GO:0006260 PMID:29548889 any anomaly in the chemical reactions and pathways resulting a decrease in new strands of DNA being synthesized 2022-02-15T21:24:04Z reduced DNA replication MPheno.ontology decelerated DNA replication MP:0021086 decreased DNA replication MP:0021086 any anomaly in the chemical reactions and pathways resulting a decrease in new strands of DNA being synthesized GO:0006260 PMID:29548889 any anomaly in the process by which a previously acquired spatial memory is lost by learned suppression 2022-02-15T21:54:11Z MPheno.ontology MP:0021087 abnormal spatial memory extinction MP:0021087 any anomaly in the process by which a previously acquired spatial memory is lost by learned suppression PMID:31133825 decrease in or deceleration of the process by which a previously acquired spatial memory is lost by learned suppression 2022-02-15T21:54:26Z MPheno.ontology MP:0021088 impaired spatial memory extinction MP:0021088 decrease in or deceleration of the process by which a previously acquired spatial memory is lost by learned suppression PMID:31133825 increase in or acceleration of the process by which a previously acquired spatial memory is lost by learned suppression 2022-02-15T21:54:45Z MPheno.ontology MP:0021089 enhanced spatial memory extinction MP:0021089 increase in or acceleration of the process by which a previously acquired spatial memory is lost by learned suppression PMID:31133825 any anomaly in the structure of the tree-like branching pattern of the dendritic arbor 2022-02-22T19:31:50Z abnormal dendritic branching pattern MPheno.ontology MP:0021090 abnormal dendrite arborization pattern MP:0021090 any anomaly in the structure of the tree-like branching pattern of the dendritic arbor PMID:20404840 any structural anomaly spinal cord interneurons that arise from the dorsal pool of progenitor cells and are associated primarily with sensory processing abnormal dI morphology MPheno.ontology MP:0021091 abnormal dorsal interneuron morphology MP:0021091 any structural anomaly spinal cord interneurons that arise from the dorsal pool of progenitor cells and are associated primarily with sensory processing PMID:26136656 any structural anomaly of the dorsal interneurons that migrate to the deep dorsal horn and intermediate gray tissue, recieve proprioceptive input from the periphery, form commissural projections of dorsal and ventral spinaocerebellar tracts, and are characterized by expression of Atoh1, Brn3a, Barhl1, and Lhx9 abnormal dI1 morphology MPheno.ontology MP:0021092 abnormal dorsal interneuron 1 morphology MP:0021092 any structural anomaly of the dorsal interneurons that migrate to the deep dorsal horn and intermediate gray tissue, recieve proprioceptive input from the periphery, form commissural projections of dorsal and ventral spinaocerebellar tracts, and are characterized by expression of Atoh1, Brn3a, Barhl1, and Lhx9 PMID:26136656 any structural anomaly of the dorsal interneurons that are ascending, contralaterally projecting, relay interneurons, migrate to the intermediate spinal cord and ventral horn, and are characterized by expression of Olig3, Nlgn1, Brn3a, Foxd3, Lhx1, and Lhx5 abnormal dI2 morphology MPheno.ontology MP:0021093 abnormal dorsal interneuron 2 morphology MP:0021093 any structural anomaly of the dorsal interneurons that are ascending, contralaterally projecting, relay interneurons, migrate to the intermediate spinal cord and ventral horn, and are characterized by expression of Olig3, Nlgn1, Brn3a, Foxd3, Lhx1, and Lhx5 PMID:26136656 any structural anomaly of the dorsal interneurons that are excitatory, located in the deep dorsal horn and intermediate spinal cord, target motor neurons monosynaptically, have axons projecting rostrally, ipsilaterally, and longitudinally, and are characterized by expression of Acsl1, Gsh2, Brn3a, Tlx3, Isl1, and Drg11 abnormal dI3 morphology MPheno.ontology MP:0021094 abnormal dorsal interneuron 3 morphology MP:0021094 any structural anomaly of the dorsal interneurons that are excitatory, located in the deep dorsal horn and intermediate spinal cord, target motor neurons monosynaptically, have axons projecting rostrally, ipsilaterally, and longitudinally, and are characterized by expression of Acsl1, Gsh2, Brn3a, Tlx3, Isl1, and Drg11 PMID:26136656 any structural anomaly of the dorsal interneurons that are GABAergic, project ipsilaterally, are somatosensory associative, migrate to the deep dorsal horn, and are characterized by expression of Msx1, Ascl1, Gsh1, Gsh2, Lbx1, Pax2, Lhx1, Lhx5, and Ptf1a abnormal dI4 morphology MPheno.ontology MP:0021095 abnormal dorsal interneuron 4 morphology MP:0021095 any structural anomaly of the dorsal interneurons that are GABAergic, project ipsilaterally, are somatosensory associative, migrate to the deep dorsal horn, and are characterized by expression of Msx1, Ascl1, Gsh1, Gsh2, Lbx1, Pax2, Lhx1, Lhx5, and Ptf1a PMID:26136656 any structural anomaly of the dorsal interneurons that are roof-plate independent, glutamatergic, somatosensory, project contralaterally, and are characterized by expression of Pax6, Irx3, Dbx2, Ascl1, Lbx1, Tlx3, Lmxb1b, and Brn3a abnormal dI5 morphology MPheno.ontology MP:0021096 abnormal dorsal interneuron 5 morphology MP:0021096 any structural anomaly of the dorsal interneurons that are roof-plate independent, glutamatergic, somatosensory, project contralaterally, and are characterized by expression of Pax6, Irx3, Dbx2, Ascl1, Lbx1, Tlx3, Lmxb1b, and Brn3a PMID:26136656 any structural anomaly of the dorsal interneurons that are roof-plate independent, commissural, inhibitory, and are characterized by expression of Pax6, Pax7, Irx3, Dbx2, Ngn1, Ngn2, Wt1, and Lbx1 abnormal dI6 morphology MPheno.ontology MP:0021097 abnormal dorsal interneuron 6 morphology MP:0021097 any structural anomaly of the dorsal interneurons that are roof-plate independent, commissural, inhibitory, and are characterized by expression of Pax6, Pax7, Irx3, Dbx2, Ngn1, Ngn2, Wt1, and Lbx1 PMID:26136656 any structural anomaly of the dorsal interneurons that are born during a second wave of neurogenesis, are located in the superficial dorsal horn, and are characterized by expression of Ascl1, Gsh1, Gsh2, Ptf1, and Lbx1 abnormal dIL morphology MPheno.ontology MP:0021098 abnormal late-born dorsal interneuron morphology MP:0021098 any structural anomaly of the dorsal interneurons that are born during a second wave of neurogenesis, are located in the superficial dorsal horn, and are characterized by expression of Ascl1, Gsh1, Gsh2, Ptf1, and Lbx1 PMID:26136656 any structural anomaly of the late-born dorsal interneurons that are roof-plate independent, and are dependent on expression of Ptf1a abnormal dILA morphology MPheno.ontology MP:0021099 abnormal dorsal interneuron LA morphology MP:0021099 any structural anomaly of the late-born dorsal interneurons that are roof-plate independent, and are dependent on expression of Ptf1a PMID:26136656 any structural anomaly of the late-born dorsal interneurons that project ipsilaterally, integrate input from cutaneous sensory neurons that detect noxious stimuli, and are characterized by expression of Drg11, Tlx3, and Slc17a6 abnormal dILB morphology MPheno.ontology MP:0021100 abnormal dorsal interneuron LB morphology MP:0021100 any structural anomaly of the late-born dorsal interneurons that project ipsilaterally, integrate input from cutaneous sensory neurons that detect noxious stimuli, and are characterized by expression of Drg11, Tlx3, and Slc17a6 PMID:26136656 any structural anomaly spinal cord interneurons that arise from the ventral pool of progenitor cells, are mostly found in the ventral cord and are grossly associated with motor function abnormal V interneuron morphology MPheno.ontology MP:0021101 abnormal ventral interneuron morphology MP:0021101 any structural anomaly spinal cord interneurons that arise from the ventral pool of progenitor cells, are mostly found in the ventral cord and are grossly associated with motor function PMID:26136656 any structural anomaly of the ventral interneurons that are primarily contralateral, receive inputs from ipsilateral projecting V2a interneurons, and are characterized by expression of Evx1, Dbx1, Dbx2, Pax6 and Irx3 abnormal V0 morphology MPheno.ontology MP:0021102 abnormal ventral interneuron 0 morphology MP:0021102 any structural anomaly of the ventral interneurons that are primarily contralateral, receive inputs from ipsilateral projecting V2a interneurons, and are characterized by expression of Evx1, Dbx1, Dbx2, Pax6 and Irx3 PMID:26136656 any structural anomaly of the ventral interneurons that appear to control burst durations and are characterized by expression of En1, Foxd3, Dbx2, Pax6, and Irx3 abnormal V1 morphology MPheno.ontology MP:0021103 abnormal ventral interneuron 1 morphology MP:0021103 any structural anomaly of the ventral interneurons that appear to control burst durations and are characterized by expression of En1, Foxd3, Dbx2, Pax6, and Irx3 PMID:26136656 any structural anomaly of the ventral interneurons that project ipsilaterally, extend axons caudally across several segments, have both excitatory (V2a) and inhibitory (V2b) subclasses, and are characterized by expression of Chx10, Gata3, Irx3, and Lhx3 abnormal V2 morphology MPheno.ontology MP:0021104 abnormal ventral interneuron 2 morphology MP:0021104 any structural anomaly of the ventral interneurons that project ipsilaterally, extend axons caudally across several segments, have both excitatory (V2a) and inhibitory (V2b) subclasses, and are characterized by expression of Chx10, Gata3, Irx3, and Lhx3 PMID:26136656 any structural anomaly of the ventral interneurons that are glutamatergic, predominantly project contralaterally and caudally, form connections with V1, V2 and lamina VIII interneurons, and are characterized by expression of Nkx2-2, Nkx601, Ngn3, and Sim1 abnormal V3 morphology MPheno.ontology MP:0021105 abnormal ventral interneuron 3 morphology MP:0021105 any structural anomaly of the ventral interneurons that are glutamatergic, predominantly project contralaterally and caudally, form connections with V1, V2 and lamina VIII interneurons, and are characterized by expression of Nkx2-2, Nkx601, Ngn3, and Sim1 PMID:26136656 any structural anomaly in a maturing ovarian follicle that has two or more layers of granulosa cells but lacks antra 2022-02-25T20:51:57Z abnormal folliculus ovaricus secondarius morphology abnormal pre-antral follicle morphology abnormal preantral follicle morphology MPheno.ontology MP:0021106 abnormal secondary ovarian follicle morphology MP:0021106 any structural anomaly in a maturing ovarian follicle that has two or more layers of granulosa cells but lacks antra UBERON:0000036 presence of one or more wrinkles projecting outward from the surface of the retina 2022-03-08T20:57:23Z retinal fold retinal folds MPheno.ontology MP:0021107 retina fold MP:0021107 presence of one or more wrinkles projecting outward from the surface of the retina HP:0008052 increase in the number of normal cells in normal arrangement in the intestinal epithelium, typically resulting in increased size 2022-03-09T16:08:04Z hyperplastic intestinal epithelium MPheno.ontology MP:0021108 intestinal epithelium hyperplasia MP:0021108 increase in the number of normal cells in normal arrangement in the intestinal epithelium, typically resulting in increased size PMID:22042863 decrease in the number of normal cells in normal arrangement in the intestinal epithelium, typically resulting in increased size 2022-03-09T16:08:21Z hypoplastic intestinal epithelium MPheno.ontology MP:0021109 intestinal epithelium hypoplasia MP:0021109 decrease in the number of normal cells in normal arrangement in the intestinal epithelium, typically resulting in increased size http://orcid.org/0000-0003-4606-0597 increase in the tendency for animals to approach and examine conspecifics 2022-04-05T20:46:21Z MPheno.ontology MP:0021110 increased social investigation MP:0021110 increase in the tendency for animals to approach and examine conspecifics PMID:15988472 decrease in the tendency for animals to approach and examine conspecifics 2022-04-05T20:46:37Z reduced social investigation MPheno.ontology MP:0021111 decreased social investigation MP:0021111 decrease in the tendency for animals to approach and examine conspecifics PMID:15347806 reduction in the ability of an individual to recognize another individual of the same species during repeated encounters 2022-04-05T20:54:16Z decreased social memory retention MPheno.ontology MP:0021112 impaired social recognition MP:0021112 reduction in the ability of an individual to recognize another individual of the same species during repeated encounters PMID:11950245 increase in the ability of an individual to recognize another individual of the same species during repeated encounters 2022-04-05T20:56:42Z increased social memory retention MPheno.ontology MP:0021113 enhanced social recognition MP:0021113 increase in the ability of an individual to recognize another individual of the same species during repeated encounters PMID:11950245 inability of an individual to recognize another individual of the same species during repeated encounters 2022-04-05T20:58:43Z MPheno.ontology MP:0021114 social amnesia MP:0021114 inability of an individual to recognize another individual of the same species during repeated encounters PMID:16249339 any anomaly in the level of domineering, assaultive posture and/or hostile physical action displayed toward another individual(s) of the same species 2022-04-15T17:02:10Z MPheno.ontology MP:0021115 abnormal aggression towards conspecific MP:0021115 any anomaly in the level of domineering, assaultive posture and/or hostile physical action displayed toward another individual(s) of the same species ISBN:0-395-70869-9 ISBN:0-683-40008-8 any anomaly in the normal behavior of a mammal(s) in response to encountering or engaging with a member(s) of another species 2022-04-15T17:19:26Z abnormal heterospecific interaction behaviour MPheno.ontology MP:0021116 abnormal heterospecific interaction behavior MP:0021116 any anomaly in the normal behavior of a mammal(s) in response to encountering or engaging with a member(s) of another species http://orcid.org/0000-0003-4606-0597 any anomaly in the tendency of a group of mammals to congregate together maintaining close body contact 2022-04-15T18:11:26Z abnormal huddling behaviour MPheno.ontology MP:0021117 abnormal huddling behavior MP:0021117 any anomaly in the tendency of a group of mammals to congregate together maintaining close body contact http://purl.obolibrary.org/obo/NBO_0000052 any anomaly in any response from the father or attending male related to the ability of young to thrive 2022-04-15T18:55:24Z abnormal paternal behaviour MPheno.ontology MP:0021118 abnormal paternal behavior MP:0021118 any anomaly in any response from the father or attending male related to the ability of young to thrive https://orcid.org/0000-0003-4606-0597 any anomaly in a behavior related to the actions or reactions of an organism in response to a sound 2022-04-15T19:53:00Z abnormal auditory related behavior abnormal behavioural response to sound MPheno.ontology MP:0021119 abnormal auditory behavior MP:0021119 any anomaly in a behavior related to the actions or reactions of an organism in response to a sound http://purl.obolibrary.org/obo/NBO_0000316 any anomaly in a behavior related to the actions or reactions of an organism in response to a visual stimulus 2022-04-15T20:00:44Z abnormal visual related behaviour MPheno.ontology MP:0021120 abnormal visual behavior MP:0021120 any anomaly in a behavior related to the actions or reactions of an organism in response to a visual stimulus http://purl.obolibrary.org/obo/NBO_0000314 any anomaly in any specific action or reaction of an organism that recurs with measured regularity 2022-04-15T20:12:51Z abnormal rhythmic behaviour MPheno.ontology MP:0021121 abnormal rhythmic behavior MP:0021121 any anomaly in any specific action or reaction of an organism that recurs with measured regularity http://purl.obolibrary.org/obo/GO_0007622 any anomaly in the amount of the tertiary amine oxide resulting from the oxidation typically by gut bacteria of the amino group of trimethylamine 2022-04-19T18:20:20Z abnormal N,N-dimethylmethanamine oxide level abnormal TMAO level MPheno.ontology MP:0021122 high levels of this compound are associated with heart disease, hardening of arteries, diabetes, and colon cancer abnormal trimethylamine N-oxide level MP:0021122 any anomaly in the amount of the tertiary amine oxide resulting from the oxidation typically by gut bacteria of the amino group of trimethylamine http://purl.obolibrary.org/obo/CHEBI_15724 https://orcid.org/0000-0001-6624-9261 elevation in the amount of the tertiary amine oxide resulting from the oxidation typically by gut bacteria of the amino group of trimethylamine 2022-04-19T18:27:55Z elevated N,N-dimethylmethanamine oxide level increased TMAO level MPheno.ontology MP:0021123 increased trimethylamine N-oxide level MP:0021123 elevation in the amount of the tertiary amine oxide resulting from the oxidation typically by gut bacteria of the amino group of trimethylamine http://purl.obolibrary.org/obo/CHEBI_15724 reduction in the amount of the tertiary amine oxide resulting from the oxidation typically by gut bacteria of the amino group of trimethylamine 2022-04-19T18:28:04Z decreased TMAO level reduced N,N-dimethylmethanamine oxide level MPheno.ontology MP:0021124 decreased trimethylamine N-oxide level MP:0021124 reduction in the amount of the tertiary amine oxide resulting from the oxidation typically by gut bacteria of the amino group of trimethylamine http://purl.obolibrary.org/obo/CHEBI_15724 any anomaly in the amount of the phosphate of choline an intermediate in the synthesis of phosphatidylcholine 2022-04-19T18:54:31Z abnormal N,N,N-trimethyl-2-(phosphonooxy)ethanaminium level MPheno.ontology MP:0021125 abnormal phosphocholine level MP:0021125 any anomaly in the amount of the phosphate of choline an intermediate in the synthesis of phosphatidylcholine http://purl.obolibrary.org/obo/CHEBI_18132 https://orcid.org/0000-0001-6624-9261 greater than the normal amount of the phosphate of choline an intermediate in the synthesis of phosphatidylcholine 2022-04-19T18:54:49Z elevated N,N,N-trimethyl-2-(phosphonooxy)ethanaminium level MPheno.ontology MP:0021126 increased phosphocholine level MP:0021126 greater than the normal amount of the phosphate of choline an intermediate in the synthesis of phosphatidylcholine https://orcid.org/0000-0003-4606-0597 less than the normal amount of the phosphate of choline an intermediate in the synthesis of phosphatidylcholine 2022-04-19T18:55:02Z reduced N,N,N-trimethyl-2-(phosphonooxy)ethanaminium level MPheno.ontology MP:0021127 decreased phosphocholine level MP:0021127 less than the normal amount of the phosphate of choline an intermediate in the synthesis of phosphatidylcholine https://orcid.org/0000-0003-4606-0597 greater than the normal amount of choline (2-hydroxyethyltrimethylammonium), an amino alcohol that occurs widely in living organisms as a constituent of certain types of phospholipids and in the neurotransmitter acetylcholine 2022-04-19T18:59:35Z elevated choline level MPheno.ontology MP:0021128 increased choline level MP:0021128 greater than the normal amount of choline (2-hydroxyethyltrimethylammonium), an amino alcohol that occurs widely in living organisms as a constituent of certain types of phospholipids and in the neurotransmitter acetylcholine https://orcid.org/0000-0003-4606-0597 any anomaly in the amount of the glycerol phosphate ester of a phosphocholine, one of two major forms of choline storage (the other is phosphocholine) in the cytosol 2022-04-19T19:31:55Z MPheno.ontology MP:0021129 abnormal glycerophosphocholine level MP:0021129 any anomaly in the amount of the glycerol phosphate ester of a phosphocholine, one of two major forms of choline storage (the other is phosphocholine) in the cytosol http://purl.obolibrary.org/obo/CHEBI_36313 https://orcid.org/0000-0001-6624-9261 less than the normal amount of the glycerol phosphate ester of a phosphocholine, one of two major forms of choline storage (the other is phosphocholine) in the cytosol 2022-04-19T19:36:02Z reduced glycerophosphocholine level MPheno.ontology MP:0021130 decreased glycerophosphocholine level MP:0021130 less than the normal amount of the glycerol phosphate ester of a phosphocholine, one of two major forms of choline storage (the other is phosphocholine) in the cytosol http://purl.obolibrary.org/obo/CHEBI_36313 greater than the normal amount of the glycerol phosphate ester of a phosphocholine, one of two major forms of choline storage (the other is phosphocholine) in the cytosol 2022-04-19T19:36:12Z elevated glycerophosphocholine level MPheno.ontology MP:0021131 increased glycerophosphocholine level MP:0021131 greater than the normal amount of the glycerol phosphate ester of a phosphocholine, one of two major forms of choline storage (the other is phosphocholine) in the cytosol http://purl.obolibrary.org/obo/CHEBI_36313 any anomaly in the amount of the amino acid-derived zwitterion in which the ammonium nitrogen carries methyl substituents and bears no hydrogen atoms; often serving as methyl donor for various metabolic pathways 2022-04-19T21:05:16Z abnormal amino-acid betaine level MPheno.ontology MP:0021132 abnormal amino acid betaine level MP:0021132 any anomaly in the amount of the amino acid-derived zwitterion in which the ammonium nitrogen carries methyl substituents and bears no hydrogen atoms; often serving as methyl donor for various metabolic pathways http://purl.obolibrary.org/obo/CHEBI_22860 https://orcid.org/0000-0001-6624-9261 greater than the normal amount of the amino acid-derived zwitterion in which the ammonium nitrogen carries methyl substituents and bears no hydrogen atoms 2022-04-19T21:05:45Z elevated amino-acid betaine level MPheno.ontology MP:0021133 increased amino acid betaine level MP:0021133 greater than the normal amount of the amino acid-derived zwitterion in which the ammonium nitrogen carries methyl substituents and bears no hydrogen atoms CHEBI:22860 less than the normal amount of the amino acid-derived zwitterion in which the ammonium nitrogen carries methyl substituents and bears no hydrogen atoms 2022-04-19T21:05:55Z reduced amino-acid betaine level MPheno.ontology MP:0021134 decreased amino acid betaine level MP:0021134 less than the normal amount of the amino acid-derived zwitterion in which the ammonium nitrogen carries methyl substituents and bears no hydrogen atoms CHEBI:22860 any structural anomaly of the sturdy tire-like structure consisting of water and sturdy elastic collagen fibers that encases the gel-like center of the disk 2022-05-18T19:59:26Z abnormal anulus fibrosus morphology MPheno.ontology MP:0021135 abnormal annulus fibrosus morphology MP:0021135 any structural anomaly of the sturdy tire-like structure consisting of water and sturdy elastic collagen fibers that encases the gel-like center of the disk https://pubmed.ncbi.nlm.nih.gov/25954032 https://www.coloradospineinstitute.com/education/anatomy/intervertebral-discs/ any anomaly in the characteristic surface outline or contour of the vertebrae 2022-05-18T20:07:52Z MPheno.ontology MP:0021136 abnormal vertebrae shape MP:0021136 any anomaly in the characteristic surface outline or contour of the vertebrae https://orcid.org/0000-0003-4606-0597 any anomaly in the angle between the upper endplate and the lower endplate of the vertebra such that one side is thicker than the other 2022-05-18T20:16:42Z vertebral wedging wedged vertebrae MPheno.ontology MP:0021137 abnormal wedge-shaped vertebrae MP:0021137 any anomaly in the angle between the upper endplate and the lower endplate of the vertebra such that one side is thicker than the other https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5044896/ any structural anomaly in the small, triangular muscular and tendinous bundles located on either side of the spinal column that fill the groove between the transverse and spinous processes of the vertebrae 2022-06-09T18:34:12Z abnormal multifidus morphology MPheno.ontology MP:0021138 abnormal multifidus muscle morphology MP:0021138 any structural anomaly in the small, triangular muscular and tendinous bundles located on either side of the spinal column that fill the groove between the transverse and spinous processes of the vertebrae https://en.wikipedia.org/wiki/Multifidus_muscle https://www.physio-pedia.com/Multifidus_Muscle any anomaly in the amount of calcium in the heart muscle 2022-06-09T19:00:25Z abnormal cardiac muscle cell calcium level abnormal cardiac myocyte calcium level abnormal cardiomyocyte calcium level abnormal heart muscle cell calcium level MPheno.ontology MP:0021139 abnormal cardiac muscle calcium level MP:0021139 any anomaly in the amount of calcium in the heart muscle PMID:32207065 increase in the amount of calcium in the heart muscle 2022-06-09T19:09:30Z increased cardiac muscle cell calcium level increased cardiac myocyte calcium level increased cardiomyocyte calcium level increased heart muscle cell calcium level MPheno.ontology MP:0021140 increased cardiac muscle calcium level MP:0021140 increase in the amount of calcium in the heart muscle PMID:32207065 decrease in the amount of calcium in the heart muscle 2022-06-09T19:09:43Z decreased cardiac muscle cell calcium level decreased cardiac myocyte calcium level decreased cardiomyocyte calcium level decreased heart muscle cell calcium level reduced cardiac myocyte calcium level reduced cardiomyocyte calcium level reduced heart muscle cell calcium level MPheno.ontology MP:0021141 decreased cardiac muscle calcium level MP:0021141 decrease in the amount of calcium in the heart muscle PMID:32207065 any anomaly in the amount of the derivative of the amino acid aspartic acid in which the acyl group is acetyl and has the chemical formula C6H9NO5 in the brain tissue 2022-06-09T20:13:38Z aberrant brain N-acetyl-L-aspartate level aberrant brain NAA level abnormal brain (2S)-2-acetamidobutanedioic acid level abnormal brain N-Acetylaspartic acid level abnormal brain N-acetyl-L-aspartate level abnormal brain NAA level MPheno.ontology MP:0021142 abnormal brain N-acetyl-L-aspartic acid level MP:0021142 any anomaly in the amount of the derivative of the amino acid aspartic acid in which the acyl group is acetyl and has the chemical formula C6H9NO5 in the brain tissue PMID:10820213 http://purl.obolibrary.org/obo/CHEBI_21547 https://en.wikipedia.org/wiki/N-Acetylaspartic_acid an increase in the amount of N-acetyl-L-aspartic acid in the brain tissue 2022-06-09T20:13:48Z increased brain (2S)-2-acetamidobutanedioic acid level increased brain N-acetyl-L-aspartate level increased brain NAA level MPheno.ontology MP:0021143 increased brain N-acetyl-L-aspartic acid level MP:0021143 an increase in the amount of N-acetyl-L-aspartic acid in the brain tissue PMID:10820213 a decrease in the amount of N-acetyl-L-aspartic acid in the brain tissue 2022-06-09T20:13:58Z decreased brain (2S)-2-acetamidobutanedioic acid level decreased brain N-acetyl-L-aspartate level reduced brain N-acetyl-L-aspartate level reduced brain NAA level MPheno.ontology MP:0021144 decreased brain N-acetyl-L-aspartic acid level MP:0021144 decreased brain (2S)-2-acetamidobutanedioic acid level PMID:10820213 any anomaly in the amount of a compound derived from an amino acid from reaction at an amino group, carboxy group, side-chain functional group, or from the replacement of any hydrogen by a heteroatom 2022-06-09T20:35:01Z MPheno.ontology MP:0021145 abnormal amino acid derivative level MP:0021145 any anomaly in the amount of a compound derived from an amino acid from reaction at an amino group, carboxy group, side-chain functional group, or from the replacement of any hydrogen by a heteroatom http://purl.obolibrary.org/obo/CHEBI_83821 an accumulation of extracellular serum amyloid A deposits in tissues of the body 2022-06-10T17:58:43Z increased amyloid type A protein deposition MPheno.ontology MP:0021146 AA amyloidosis MP:0021146 an accumulation of extracellular serum amyloid A deposits in tissues of the body HP:4000041 https://www.webmd.com/cancer/lymphoma/amyloidosis-symptoms-causes-treatments an accumulation of extracellular amyloid deposits in tissues of the kidney 2022-06-10T18:14:57Z increased kidney amyloid deposition MPheno.ontology MP:0021147 renal amyloidosis MP:0021147 an accumulation of extracellular amyloid deposits in tissues of the kidney HP:0001917 an accumulation of extracellular amyloid deposits in tissues of the heart 2022-06-10T18:17:41Z increased heart amyloid deposition MPheno.ontology MP:0021148 cardiac amyloidosis MP:0021148 an accumulation of extracellular amyloid deposits in tissues of the heart HP:0030843 any anomaly in the amount of the cleaved APP amyloid beta protein fragment 2022-06-10T18:20:49Z abnormal Abeta level abnormal beta amyloid level MPheno.ontology MP:0021149 abnormal amyloid beta protein level MP:0021149 any anomaly in the amount of the cleaved APP amyloid beta protein fragment PMID:31391004 increase in the amount of the cleaved APP amyloid beta protein fragment 2022-06-10T18:24:46Z MPheno.ontology MP:0021150 increased amyloid beta protein level MP:0021150 increase in the amount of the cleaved APP amyloid beta protein fragment PMID:31391004 decrease in the amount of the cleaved APP amyloid beta protein fragment 2022-06-10T18:24:54Z reduced amyloid beta protein level MPheno.ontology MP:0021151 decreased amyloid beta protein level MP:0021151 decrease in the amount of the cleaved APP amyloid beta protein fragment PMID:31391004 any anomaly in the formation of extracellular amyloid deposits in tissues of the body 2022-06-10T18:33:53Z MPheno.ontology MP:0021152 abnormal amyloid deposition MP:0021152 any anomaly in the formation of extracellular amyloid deposits in tissues of the body PMID:16785251 reduction in the formation of extracellular amyloid deposits in tissues of the body 2022-06-10T18:34:41Z decreased amyloid deposits reduced amyloid deposition MPheno.ontology MP:0021153 decreased amyloid deposition MP:0021153 reduction in the formation of extracellular amyloid deposits in tissues of the body PMID:16785251 an accumulation of extracellular amyloid deposits in tissues of the liver 2022-06-10T18:44:53Z increased liver amyloid deposition MPheno.ontology MP:0021154 hepatic amyloidosis MP:0021154 an accumulation of extracellular amyloid deposits in tissues of the liver HP:0012280 PMID:19041304 anomaly in the depth of the cardiac wall of the heart left ventricle 2022-06-21T15:44:32Z MPheno.ontology MP:0021155 abnormal heart left ventricle wall thickness MP:0021155 anomaly in the depth of the cardiac wall of the heart left ventricle https://orcid.org/0000-0003-4606-0597 anomaly in the depth of the cardiac wall of the heart right ventricle 2022-06-21T15:44:45Z MPheno.ontology MP:0021156 abnormal heart right ventricle wall thickness MP:0021156 anomaly in the depth of the cardiac wall of the heart right ventricle https://orcid.org/0000-0003-4606-0597 increase in the depth of the cardiac wall of the heart left ventricle 2022-06-21T15:45:04Z thick left ventricular wall MPheno.ontology MP:0021157 increased heart left ventricle wall thickness MP:0021157 increase in the depth of the cardiac wall of the heart left ventricle https://orcid.org/0000-0003-4606-0597 decrease in the depth of the cardiac wall of the heart left ventricle 2022-06-21T15:45:14Z thin left ventricular wall MPheno.ontology MP:0021158 decreased heart left ventricle wall thickness MP:0021158 decrease in the depth of the cardiac wall of the heart left ventricle https://orcid.org/0000-0003-4606-0597 increase in the depth of the cardiac wall of the heart right ventricle 2022-06-21T15:45:28Z thick right ventricular wall MPheno.ontology MP:0021159 increased heart right ventricle wall thickness MP:0021159 increase in the depth of the cardiac wall of the heart right ventricle https://orcid.org/0000-0003-4606-0597 decrease in the depth of the cardiac wall of the heart right ventricle 2022-06-21T15:45:43Z thin right ventricular wall MPheno.ontology MP:0021160 decreased heart right ventricle wall thickness MP:0021160 decrease in the depth of the cardiac wall of the heart right ventricle https://orcid.org/0000-0003-4606-0597 increase in the depth of the cardiac wall on the posterior side of the heart left ventricle 2022-06-21T16:58:46Z thick left ventricular posterior wall MPheno.ontology MP:0021161 increased heart left ventricle posterior wall thickness MP:0021161 increase in the depth of the cardiac wall on the posterior side of the heart left ventricle https://orcid.org/0000-0003-4606-0597 increase in the depth of the cardiac wall on the anterior side of the heart left ventricle 2022-06-21T16:59:09Z thick left ventricular anterior wall MPheno.ontology MP:0021162 increased heart left ventricle anterior wall thickness MP:0021162 increase in the depth of the cardiac wall on the anterior side of the heart left ventricle https://orcid.org/0000-0003-4606-0597 increase in the depth of the cardiac septal wall of the heart left ventricle 2022-06-21T16:59:30Z thick left ventricular septal wall MPheno.ontology MP:0021163 increased heart left ventricle septal wall thickness MP:0021163 increase in the depth of the cardiac septal wall of the heart left ventricle https://orcid.org/0000-0003-4606-0597 fissure in the tissues of the upper lip and/or roof of the mouth 2022-06-21T17:38:16Z cleft of the mouth oral clefting MPheno.ontology MP:0021164 oral cleft MP:0021164 fissure in the tissues of the upper lip and/or roof of the mouth HP:0000202 https://www.mayoclinic.org/diseases-conditions/cleft-palate/symptoms-causes/syc-20370985 late onset of the appearance or disappearance of a behavior or behavioral milestone during the development of an organism compared to controls 2022-06-21T18:24:10Z MPheno.ontology MP:0021165 behavioral developmental delay MP:0021165 late onset of the appearance or disappearance of a behavior or behavioral milestone during the development of an organism compared to controls PMID:29395075 https://www.yalemedicine.org/conditions/developmental-delay delay in the timing of the process in which the palatal shelves move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue 2022-07-06T19:24:11Z MPheno.ontology MP:0021166 delayed palatal shelf elevation MP:0021166 delay in the timing of the process in which the palatal shelves move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue PMID:34150743 anomaly in the behavioral response induced by the semisynthetic opioid of formula C18H21NO4 that is derived from thebaine 2022-07-06T19:27:45Z abnormal behavioural response to 14-hydroxy-3-methoxy-17-methyl-4,5alpha-epoxymorphinan-6-one MPheno.ontology MP:0021167 abnormal behavioral response to oxycodone MP:0021167 anomaly in the behavioral response induced by the semisynthetic opioid of formula C18H21NO4 that is derived from thebaine http://purl.obolibrary.org/obo/CHEBI_7852 https://orcid.org/0000-0003-4606-0597 increased sensitivity to oxycodone resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response 2022-07-06T19:39:57Z enhanced behavioural response to oxycodone MPheno.ontology MP:0021168 enhanced behavioral response to oxycodone MP:0021168 increased sensitivity to oxycodone resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0003-4606-0597 decreased sensitivity to oxycodone resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response 2022-07-06T19:40:09Z impaired behavioural response to oxycodone MPheno.ontology MP:0021169 impaired behavioral response to oxycodone MP:0021169 decreased sensitivity to oxycodone resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0003-4606-0597 abnormal narrowing or constriction of the spaces within the vertebral column 2022-07-06T19:48:44Z narrow spinal canal vertebral canal stenosis MPheno.ontology MP:0021170 spinal stenosis MP:0021170 abnormal narrowing or constriction of the spaces within the vertebral column https://my.clevelandclinic.org/health/diseases/17499-spinal-stenosis any structural anomaly in the nucleus of granulocytes MPheno.ontology MP:0021171 abnormal granulocyte nuclear morphology MP:0021171 any structural anomaly in the nucleus of granulocytes PMID:22338047 any structural anomaly in the nucleus of neutrophils MPheno.ontology MP:0021172 abnormal neutrophil nuclear morphology MP:0021172 any structural anomaly in the nucleus of neutrophils PMID:22338047 PMID:30564248 any anomaly in the number or structure of the lobes of the nucleus of neutrophils MPheno.ontology MP:0021173 abnormal neutrophil nuclear segmentation MP:0021173 any anomaly in the number or structure of the lobes of the nucleus of neutrophils PMID:22338047 PMID:30564248 reduced number of lobes of the neutrophil nucleus hyposegmented neutrophil nuclei neutrophil nuclear hyposegmentation MPheno.ontology MP:0021174 decreased neutrophil nuclear segmentation MP:0021174 reduced number of lobes of the neutrophil nucleus PMID:22338047 reduced number of lobes of the neutrophil nucleus and the remaining lobes have a symmetrical morphology MPheno.ontology Pelger-Huet anomaly MP:0021175 symmetrical hyposegmentation of neutrophil nuclei MP:0021175 reduced number of lobes of the neutrophil nucleus and the remaining lobes have a symmetrical morphology PMID:22338047 reduced number of lobes of the neutrophil nucleus and the remaining lobes have an asymmetrical morphology MPheno.ontology MP:0021176 asymmetrical hyposegmentation of neutrophil nuclei MP:0021176 reduced number of lobes of the neutrophil nucleus and the remaining lobes have an asymmetrical morphology PMID:22338047 elevated number of lobes of the neutrophil nucleus neutrophil nuclear hypersegmentation MPheno.ontology MP:0021177 increased neutrophil nuclear segmentation MP:0021177 elevated number of lobes of the neutrophil nucleus PMID:22338047 any structural anomaly in the nucleus of eosinophils MPheno.ontology MP:0021178 abnormal eosinophil nuclear morphology MP:0021178 any structural anomaly in the nucleus of eosinophils PMID:22338047 any anomaly in the number or structure of the lobes of the nucleus of eosinophils MPheno.ontology MP:0021179 abnormal eosinophil nuclear segmentation MP:0021179 any anomaly in the number or structure of the lobes of the nucleus of eosinophils PMID:22338047 reduced number of lobes of the eosinophil nucleus eosinophil nuclear hyposegmentation MPheno.ontology Pelger-Huet anomaly MP:0021180 decreased eosinophil nuclear segmentation MP:0021180 reduced number of lobes of the eosinophil nucleus PMID:22338047 elevated number of lobes of the eosinophil nucleus eosinophil nuclear hypersegmentation MPheno.ontology MP:0021181 increased eosinophil nuclear segmentation MP:0021181 elevated number of lobes of the eosinophil nucleus PMID:22338047 reduction in the total amount of cross-sectional area of compact bone tissue in the femur decreased compact bone area of femur decreased compact bone cross-sectional area of femur reduced femoral compact bone area MPheno.ontology MP:0021182 decreased femoral compact bone area MP:0021182 reduction in the total amount of cross-sectional area of compact bone tissue in the femur PMID:22446865 increase in the total amount of cross-sectional area of compact bone tissue in the femur increased compact bone area of femur increased compact bone cross-sectional area of femur MPheno.ontology MP:0021183 increased femoral compact bone area MP:0021183 increase in the total amount of cross-sectional area of compact bone tissue in the femur PMID:22446865 reduction in the quantitative measurement value of mineral content of bone in the upper bone of the forelimb decreased humerus bone mineral density reduced BMD of humerus MPheno.ontology MP:0021184 decreased bone mineral density of humerus MP:0021184 reduction in the quantitative measurement value of mineral content of bone in the upper bone of the forelimb PMID:22446865 elevation in the quantitative measurement value of mineral content of bone in the upper bone of the forelimb increased BMD of humerus increased humerus bone mineral density MPheno.ontology MP:0021185 increased bone mineral density of humerus MP:0021185 elevation in the quantitative measurement value of mineral content of bone in the upper bone of the forelimb PMID:22446865 reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the spinal column decreased vertebrae bone mineral density reduced BMD of vertebrae MPheno.ontology MP:0021186 decreased bone mineral density of vertebrae MP:0021186 reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the spinal column PMID:22446865 elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the spinal column increased BMD of vertebrae increased vertebrae bone mineral density MPheno.ontology MP:0021187 increased bone mineral density of vertebrae MP:0021187 elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the spinal column PMID:22446865 reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located anterior to the sacrum decreased presacral vertebrae bone mineral density reduced BMD of presacral vertebrae MPheno.ontology MP:0021188 decreased bone mineral density of presacral vertebrae MP:0021188 reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located anterior to the sacrum https://orcid.org/0000-0003-4606-0597 elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located anterior to the sacrum increased BMD of presacral vertebrae increased presacral vertebrae bone mineral density MPheno.ontology MP:0021189 increased bone mineral density of presacral vertebrae MP:0021189 elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located anterior to the sacrum https://orcid.org/0000-0003-4606-0597 reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae decreased lumbar vertebrae bone mineral density reduced BMD of lumbar vertebrae MPheno.ontology MP:0021190 decreased bone mineral density of lumbar vertebrae MP:0021190 reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae PMID:22446865 elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae increased BMD of lumbar vertebrae increased lumbar vertebrae bone mineral density MPheno.ontology MP:0021191 increased bone mineral density of lumbar vertebrae MP:0021191 elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae PMID:22446865 reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae decreased sacral vertebrae bone mineral density reduced BMD of sacral vertebrae MPheno.ontology MP:0021192 decreased bone mineral density of sacral vertebrae MP:0021192 reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae https://orcid.org/0000-0003-4606-0597 elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae increased BMD of sacral vertebrae increased sacral vertebrae bone mineral density MPheno.ontology MP:0021193 increased bone mineral density of sacral vertebrae MP:0021193 elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae https://orcid.org/0000-0003-4606-0597 reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the coccyx or tail decreased caudal vertebrae bone mineral density reduced BMD of caudal vertebrae MPheno.ontology MP:0021194 decreased bone mineral density of caudal vertebrae MP:0021194 reduction in the quantitative measurement value of mineral content of bone in any of the bony segments of the coccyx or tail PMID:8717536 elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the coccyx or tail increased BMD of caudal vertebrae increased caudal vertebrae bone mineral density MPheno.ontology MP:0021195 increased bone mineral density of caudal vertebrae MP:0021195 elevation in the quantitative measurement value of mineral content of bone in any of the bony segments of the coccyx or tail PMID:8717536 reduction in the quantitative measurement value of mineral content of bone in any of the bony segments located anterior to the thoracic vertebrae and caudal to the skull decreased cervical vertebrae bone mineral density reduced BMD of cervical vertebrae MPheno.ontology MP:0021196 decreased bone mineral density of cervical vertebrae MP:0021196 reduction in the quantitative measurement value of mineral content of bone in any of the bony segments located anterior to the thoracic vertebrae and caudal to the skull https://orcid.org/0000-0003-4606-0597 elevation in the quantitative measurement value of mineral content of bone in any of the bony segments located anterior to the thoracic vertebrae and caudal to the skull increased BMD of cervical vertebrae increased cervical vertebrae bone mineral density MPheno.ontology MP:0021197 increased bone mineral density of cervical vertebrae MP:0021197 elevation in the quantitative measurement value of mineral content of bone in any of the bony segments located anterior to the thoracic vertebrae and caudal to the skull https://orcid.org/0000-0003-4606-0597 any anomaly in the amount of time spent asleep in a defined period of time 2022-08-29T18:23:24Z MPheno.ontology MP:0021198 abnormal sleep duration MP:0021198 any anomaly in the amount of time spent asleep in a defined period of time PMID:17107938 PMID:28231463 a change in the likelihood or extent of inflammation and scarring damage to the glomerulus usually resulting from an autoimmune response 2022-10-18T18:51:49Z abnormal susceptibility to glomerular nephritis MPheno.ontology MP:0021199 abnormal susceptibility to glomerulonephritis MP:0021199 a change in the likelihood or extent of inflammation and scarring damage to the glomerulus usually resulting from an autoimmune response PMID:20488952 a diminished likelihood or extent of inflammation and scarring damage to the glomerulus usually resulting from an autoimmune response 2022-10-18T18:55:52Z decreased susceptibility to glomerular nephritis MPheno.ontology MP:0021200 decreased susceptibility to glomerulonephritis MP:0021200 a diminished likelihood or extent of inflammation and scarring damage to the glomerulus usually resulting from an autoimmune response PMID:20488952 an increased likelihood or extent of inflammation and scarring damage to the glomerulus usually resulting from an autoimmune response 2022-10-18T18:56:06Z increased susceptibility to glomerular nephritis MPheno.ontology MP:0021201 increased susceptibility to glomerulonephritis MP:0021201 an increased likelihood or extent of inflammation and scarring damage to the glomerulus usually resulting from an autoimmune response PMID:20488952 any structural anomaly in the small muscle in the roof of the mouth that is a long, fleshy fasciculus that forms, with the mucous membrane covering its surface, the palatopharyngeal arch 2022-10-18T19:52:25Z abnormal palatopharyngeal muscle morphology abnormal pharyngopalatinus muscle morphology MPheno.ontology MP:0021202 abnormal palatopharyngeus muscle morphology MP:0021202 any structural anomaly in the small muscle in the roof of the mouth that is a long, fleshy fasciculus that forms, with the mucous membrane covering its surface, the palatopharyngeal arch https://en.wikipedia.org/wiki/Palatopharyngeus_muscle any structural anomaly in the thin, firm fibrous lamella attached to the posterior border of the hard palate that serves as the insertion point for the tensor veli palatini and levator veli palatini muscles and provides support for the soft palate 2022-10-18T20:02:24Z MPheno.ontology MP:0021203 abnormal palatine aponeurosis morphology MP:0021203 any structural anomaly in the thin, firm fibrous lamella attached to the posterior border of the hard palate that serves as the insertion point for the tensor veli palatini and levator veli palatini muscles and provides support for the soft palate http://purl.obolibrary.org/obo/UBERON_0014780 any structural anomaly in the uppermost of the pharyngeal constrictors and is a quadrilateral muscle that is thinner and paler than the middle and inferior pharyngeal constrictor muscles 2022-10-18T20:10:22Z abnormal constrictor muscle of pharynx superior morphology abnormal morphology of the superior constrictor of pharynx abnormal musculus constrictor pharyngis superior morphology abnormal superior constrictor morphology abnormal superior constrictor pharyngeus morphology MPheno.ontology MP:0021204 abnormal superior pharyngeal constrictor muscle morphology MP:0021204 any structural anomaly in the uppermost of the pharyngeal constrictors and is a quadrilateral muscle that is thinner and paler than the middle and inferior pharyngeal constrictor muscles https://en.wikipedia.org/wiki/Superior_pharyngeal_constrictor_muscle an abnormal collection of fluid in cavities or between tissues in the body 2022-11-15T19:37:14Z MPheno.ontology MP:0021205 effusion MP:0021205 an abnormal collection of fluid in cavities or between tissues in the body https://www.cancer.gov/publications/dictionaries/cancer-terms/def/effusion any structural anomaly in the muscles that are part of a limb 2022-11-15T20:03:52Z MPheno.ontology MP:0021206 abnormal limb muscle morphology MP:0021206 any structural anomaly in the muscles that are part of a limb http://purl.obolibrary.org/obo/UBERON_0003661 any structural anomaly of the muscles of the autopod region 2022-11-15T20:14:07Z abnormal interosseous muscle of autopod morphology MPheno.ontology MP:0021207 abnormal autopod muscle morphology MP:0021207 any structural anomaly of the muscles of the autopod region http://purl.obolibrary.org/obo/UBERON_0006508 fissure along the midline of the palate 2022-11-16T16:01:41Z central cleft palate midline cleft palate MPheno.ontology MP:0021208 median cleft palate MP:0021208 fissure along the midline of the palate HP:0009099 fissure of the palate that is not located along the midline 2022-11-16T16:07:16Z paramedian cleft palate MPheno.ontology MP:0021209 non-midline cleft palate MP:0021209 fissure of the palate that is not located along the midline http://purl.obolibrary.org/obo/HP_0100338 https://orcid.org/0000-0003-4606-0597 non-midline fissures of the palate on both the left and right sides 2022-11-16T16:11:32Z MPheno.ontology MP:0021210 bilateral cleft palate MP:0021210 non-midline fissures of the palate on both the left and right sides http://purl.obolibrary.org/obo/HP_0100337 https://orcid.org/0000-0003-4606-0597 fissure of the palate located on either the left or right side but not both 2022-11-16T16:11:44Z MPheno.ontology MP:0021211 unilateral cleft palate MP:0021211 fissure of the palate located on either the left or right side but not both http://purl.obolibrary.org/obo/HP_0100334 https://orcid.org/0000-0003-4606-0597 any anomaly in the process by which the primary and secondary palates fuse to form the definite palate 2022-11-16T16:20:34Z MPheno.ontology MP:0021212 abnormal primary and secondary palatal fusion MP:0021212 any anomaly in the process by which the primary and secondary palates fuse to form the definite palate PMID:3074914 PMID:31171577 fissure of the palate that involves the full length of both the primary and secondary palates 2022-11-16T16:34:44Z MPheno.ontology MP:0021213 complete cleft palate MP:0021213 fissure of the palate that involves the full length of both the primary and secondary palates https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706041/ fissure of the palate formed by the failure of fusion between the primary and secondary palates 2022-11-16T16:42:54Z MPheno.ontology MP:0021214 anterior cleft palate MP:0021214 fissure of the palate formed by the failure of fusion between the primary and secondary palates PMID:31171577 any anomaly in the ability of the cranial neural crest derived mesenchymal cells located in the palate to undergo expansion by cell division 2022-12-29T15:46:40Z MPheno.ontology MP:0021215 abnormal palatal mesenchymal cell proliferation MP:0021215 any anomaly in the ability of the cranial neural crest derived mesenchymal cells located in the palate to undergo expansion by cell division PMID:3074914 atypical formation of or inability to produce the cranial neural crest derived mesenchymal cells located in the palate 2022-12-29T15:47:06Z MPheno.ontology MP:0021216 abnormal palatal mesenchymal cell differentiation MP:0021216 atypical formation of or inability to produce the cranial neural crest derived mesenchymal cells located in the palate PMID:3074914 any anomaly in the ossification of the the osteogenic blastemata of the palatal processes of the maxillary and palatine bones formed in the mesenchyme of the hard palate 2022-12-29T19:05:40Z MPheno.ontology MP:0021217 abnormal palatal shelf bone ossification MP:0021217 any anomaly in the ossification of the the osteogenic blastemata of the palatal processes of the maxillary and palatine bones formed in the mesenchyme of the hard palate PMID:3074914 any structural anomaly of the lower portion of the larynx, extending from just beneath the vocal cords down to the top of the trachea; the structures in the subglottis are implicated in the regulation of the temperature of the breath abnormal subglottic region MPheno.ontology MP:0030000 abnormal subglottis morphology MP:0030000 any structural anomaly of the lower portion of the larynx, extending from just beneath the vocal cords down to the top of the trachea; the structures in the subglottis are implicated in the regulation of the temperature of the breath ORCID:orcid.org/0000-0002-6490-7723 https://en.wikipedia.org/wiki/Subglottis congenital or acquired narrowing or constriction of the subglottic airway, extending from just beneath the vocal cords down to the top of the trachea subglottic stenosis MPheno.ontology MP:0030001 Subglottic stenosis can present as a life-threatening airway emergency and may require tracheotomy. subglottis stenosis MP:0030001 congenital or acquired narrowing or constriction of the subglottic airway, extending from just beneath the vocal cords down to the top of the trachea ORCID:orcid.org/0000-0002-6490-7723 PMID:23770197 PMID:25542773 https://en.wikipedia.org/wiki/Subglottis acceleration in the timing or in the number of cells of the lung undergoing programmed cell death increased pulmonary cell apoptosis MPheno.ontology MP:0030002 increased lung apoptosis MP:0030002 acceleration in the timing or in the number of cells of the lung undergoing programmed cell death ORCID:orcid.org/0000-0002-6490-7723 PMID:17589521 acquired diminution of the size of the hippocampus associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal change atrophic hippocampus hippocampal atrophy MPheno.ontology MP:0030003 hippocampus atrophy MP:0030003 acquired diminution of the size of the hippocampus associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal change https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the hippocampus, typically resulting in decreased size 2017-06-20T19:06:56Z hippocampal hypoplasia hypoplastic hippocampus MPheno.ontology MP:0030004 hippocampus hypoplasia MP:0030004 decrease in the number of normal cells in normal arrangement in the hippocampus, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increase in the number of cells in the retina undergoing programmed cell death 2017-06-20T19:59:17Z increased retinal apoptosis MPheno.ontology MP:0030005 increased retina apoptosis MP:0030005 increase in the number of cells in the retina undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 decrease in the number of cells in the retina undergoing programmed cell death 2017-06-20T20:06:09Z decreased retinal apoptosis reduced retina apoptosis reduced retinal apoptosis MPheno.ontology MP:0030006 decreased retina apoptosis MP:0030006 decrease in the number of cells in the retina undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 any structural anomaly of the functionally distinct adipose depot that is located within the skeleton and has the potential to exert both local and systemic effects on metabolic homeostasis, skeletal remodeling, hematopoiesis, and the development of bone metastases 2017-06-21T19:05:42Z abnormal MAT morphology abnormal marrow adipose tissue morphology MPheno.ontology MP:0030007 abnormal bone marrow adipose tissue morphology MP:0030007 any structural anomaly of the functionally distinct adipose depot that is located within the skeleton and has the potential to exert both local and systemic effects on metabolic homeostasis, skeletal remodeling, hematopoiesis, and the development of bone metastases PMID:27094502 anomaly in the quantity of the bone marrow fat-storing cells/tissue 2017-06-21T19:20:32Z abnormal MAT amount abnormal marrow adipose tissue amount abnormal marrow fat amount MPheno.ontology MP:0030008 abnormal bone marrow adipose tissue amount MP:0030008 anomaly in the quantity of the bone marrow fat-storing cells/tissue PMID:27094502 increased quantity of the bone marrow fat-storing cells/tissue 2017-06-21T20:06:57Z MAT expansion increased bone marrow adiposity increased bone marrow fat increased bone marrow fat amount increased marrow fat marrow adipose tissue expansion MPheno.ontology MP:0030009 increased bone marrow adipose tissue amount MP:0030009 increased quantity of the bone marrow fat-storing cells/tissue PMID:27094502 reduced size of the lymph nodes found near the neck and shoulders 2017-06-23T17:13:52Z decreased cervical lymph node size reduced cervical lymph node size MPheno.ontology MP:0030011 small cervical lymph nodes MP:0030011 reduced size of the lymph nodes found near the neck and shoulders https://orcid.org/0000-0002-6490-7723 decrease in the renewal, repair, and/or regrowth of central nervous system tissue following injury or disease 2017-06-23T17:52:31Z decreased CNS regeneration decreased central nervous system regeneration impaired CNS regeneration reduced CNS regeneration reduced central nervous system regeneration MPheno.ontology MP:0030012 impaired central nervous system regeneration MP:0030012 decrease in the renewal, repair, and/or regrowth of central nervous system tissue following injury or disease https://orcid.org/0000-0002-6490-7723 increase in the renewal, repair, and/or regrowth of central nervous system tissue following injury or disease 2017-06-23T18:29:36Z enhanced CNS regeneration improved CNS regeneration improved central nervous system regeneration increased CNS regeneration increased central nervous system regeneration MPheno.ontology MP:0030013 enhanced central nervous system regeneration MP:0030013 increase in the renewal, repair, and/or regrowth of central nervous system tissue following injury or disease https://orcid.org/0000-0002-6490-7723 pathologic deposition of calcium salts in the brain 2017-06-26T13:39:58Z brain calcification MPheno.ontology MP:0030014 calcified brain MP:0030014 pathologic deposition of calcium salts in the brain https://orcid.org/0000-0002-6490-7723 increased ability of adipocytes to take in glucose 2017-07-10T08:04:29Z enhanced adipocyte glucose uptake enhanced fat cell glucose uptake improved adipocyte glucose uptake improved fat cell glucose uptake increased fat cell glucose uptake MPheno.ontology MP:0030016 increased adipocyte glucose uptake MP:0030016 increased ability of adipocytes to take in glucose https://orcid.org/0000-0002-6490-7723 reduced ability of adipocytes to take in glucose 2017-07-10T08:57:27Z decreased fat cell glucose uptake impaired adipocyte glucose uptake impaired fat cell glucose uptake reduced adipocyte glucose uptake reduced fat cell glucose uptake MPheno.ontology MP:0030017 decreased adipocyte glucose uptake MP:0030017 reduced ability of adipocytes to take in glucose https://orcid.org/0000-0002-6490-7723 increased ability of the cells of the heart muscle to take in glucose 2017-07-10T09:51:02Z enhanced cardiac cell glucose uptake enhanced heart cell glucose uptake improved cardiac cell glucose uptake improved heart cell glucose uptake increased heart cell glucose uptake MPheno.ontology MP:0030018 increased cardiac muscle cell glucose uptake MP:0030018 increased ability of the cells of the heart muscle to take in glucose https://orcid.org/0000-0002-6490-7723 reduced ability of the cells of the heart muscle to take in glucose 2017-07-10T10:14:56Z decreased heart cell glucose uptake impaired cardiac cell glucose uptake impaired heart cell glucose uptake reduced cardiac cell glucose uptake reduced heart cell glucose uptake MPheno.ontology MP:0030020 decreased cardiac muscle cell glucose uptake MP:0030020 reduced ability of the cells of the heart muscle to take in glucose https://orcid.org/0000-0002-6490-7723 increased ability of muscle cells to take in glucose 2017-07-10T10:36:13Z enhanced muscle cell glucose uptake improved muscle cell glucose uptake MPheno.ontology MP:0030021 increased muscle cell glucose uptake MP:0030021 increased ability of muscle cells to take in glucose https://orcid.org/0000-0002-6490-7723 reduced ability of muscle cells to take in glucose 2017-07-10T10:42:14Z impaired muscle cell glucose uptake reduced muscle cell glucose uptake MPheno.ontology MP:0030022 decreased muscle cell glucose uptake MP:0030022 reduced ability of muscle cells to take in glucose https://orcid.org/0000-0002-6490-7723 any anomaly in the cell cycle process in which the dynamic reorganization of telomeres occurs in early meiotic prophase, during which meiotic chromosome ends are gathered in a bouquet arrangement at the inner surface of the nuclear envelope proximal to the spindle pole body; this process plays an important role in progression through meiosis and precedes synapsis 2017-07-11T08:54:55Z GO:0045141 PMID:1754386 abnormal meiotic bouquet biosynthesis abnormal meiotic bouquet formation MPheno.ontology MP:0030023 abnormal meiotic telomere clustering MP:0030023 any anomaly in the meiotic cell cycle process in which physical connections are formed between telomeric heterochromatin and the nuclear envelope, facilitating bouquet formation 2017-07-11T10:41:43Z abnormal attachment of telomeres to nuclear envelope abnormal attachment of telomeric chromatin to nuclear envelope abnormal attachment of telomeric heterochromatin to nuclear envelope MPheno.ontology MP:0030024 abnormal meiotic attachment of telomere to nuclear envelope MP:0030024 any anomaly in the meiotic cell cycle process in which physical connections are formed between telomeric heterochromatin and the nuclear envelope, facilitating bouquet formation GO:0070197 presence of abnormally enlarged platelets that are as large as or larger than the red blood cells in the microscopic field; giant platelets may be seen in myeloproliferative and myelodysplastic conditions, autoimmune thrombocytopenia, in association with severe leukemoid reactions, and in rare inherited conditions such as Bernard-Soulier syndrome 2017-07-13T09:54:05Z MPheno.ontology MP:0030025 giant platelets MP:0030025 presence of abnormally enlarged platelets that are as large as or larger than the red blood cells in the microscopic field; giant platelets may be seen in myeloproliferative and myelodysplastic conditions, autoimmune thrombocytopenia, in association with severe leukemoid reactions, and in rare inherited conditions such as Bernard-Soulier syndrome HP:0001902 https://www.labce.com/spg498392_giant_platelets.aspx reduced size of the cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible and gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments 2017-07-24T13:16:47Z decreased Meckel cartilage size decreased Meckel's cartilage size decreased mandibular cartilage size reduced Meckel cartilage size reduced Meckel's cartilage size small Meckel cartilage small mandibular cartilage MPheno.ontology MP:0030026 small Meckel's cartilage MP:0030026 reduced size of the cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible and gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the basioccipital bone, typically resulting in decreased size 2017-07-24T14:11:52Z hypoplastic basioccipital bone MPheno.ontology decreased basioccipital bone cellularity MP:0030027 basioccipital bone hypoplasia MP:0030027 decrease in the number of normal cells in normal arrangement in the basioccipital bone, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 absence of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young 2017-07-24T14:39:23Z MPheno.ontology missing exoccipital bone MP:0030028 absent exoccipital bone MP:0030028 absence of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young https://orcid.org/0000-0002-6490-7723 an abnormally increased width of one or more cranial sutures for age-related norms, generally resulting from delayed suture closure 2017-07-24T14:51:39Z broad cranial sutures large cranial sutures open cranial sutures persistent open cranial sutures wide spaced cranial sutures widened cranial sutures MPheno.ontology MP:0030029 wide cranial sutures MP:0030029 an abnormally increased width of one or more cranial sutures for age-related norms, generally resulting from delayed suture closure HP:0010537 presence of small extra bone segments, usually of irregular shape and variable size, arising in fontanelles and/or adjacent to or along the cranial sutures, and formed from additional and separate centers of ossification of the cranium; in humans, Wormian bones are most frequently located in the lambdoid or coronal suture, and have been seen in the fontanelles, particularly the posterior fontanelle 2017-07-24T15:07:20Z accessory skull bones supernumerary skull bones extra bones within cranial sutures intra sutural bones intrasutural bones islands of bone within cranial sutures or fontanelles MPheno.ontology MP:0030030 Wormian bones MP:0030030 presence of small extra bone segments, usually of irregular shape and variable size, arising in fontanelles and/or adjacent to or along the cranial sutures, and formed from additional and separate centers of ossification of the cranium; in humans, Wormian bones are most frequently located in the lambdoid or coronal suture, and have been seen in the fontanelles, particularly the posterior fontanelle PMID:23959948 https://www.kenhub.com/en/library/anatomy/accessory-bones-of-the-skull any structural anomaly of the part of the face above the eyes; in human anatomy, the forehead is the fore part of the head, an area of the head bounded by three features, two of the skull and one of the scalp; the top of the forehead is marked by the hairline, the edge of the area where hair on the scalp grows while the bottom of the forehead is marked by the supraorbital ridge, the bone feature of the skull above the eyes; the two sides of the forehead are marked by the temporal ridge, a bone feature that links the supraorbital ridge to the coronal suture line and beyond 2017-07-24T15:36:30Z abnormality of the frontal region of the face deformity of the forehead forehead anomaly malformation of the forehead MPheno.ontology MP:0030031 abnormal forehead morphology MP:0030031 any structural anomaly of the part of the face above the eyes; in human anatomy, the forehead is the fore part of the head, an area of the head bounded by three features, two of the skull and one of the scalp; the top of the forehead is marked by the hairline, the edge of the area where hair on the scalp grows while the bottom of the forehead is marked by the supraorbital ridge, the bone feature of the skull above the eyes; the two sides of the forehead are marked by the temporal ridge, a bone feature that links the supraorbital ridge to the coronal suture line and beyond HP:0000290 an abnormally increased height of the forehead 2017-07-24T16:07:55Z MPheno.ontology tall forehead MP:0030032 high forehead MP:0030032 an abnormally increased height of the forehead HP:0000348 any structural anomaly of the saddle-shaped area that includes the nasal root and the lateral aspects of the nose; it lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi 2017-08-29T07:41:13Z nasal bridge malformation MPheno.ontology MP:0030033 abnormal nasal bridge morphology MP:0030033 any structural anomaly of the saddle-shaped area that includes the nasal root and the lateral aspects of the nose; it lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi HP:0000422 posterior positioning of the saddle-shaped area that includes the nasal root and the lateral aspects of the nose in relation to the overall facial profile for age; normally, it lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi 2017-08-29T08:47:17Z depressed bridge of nose depressed nasal root flat bridge of nose flat nasal bridge flat nasal root flattened nasal bridge low nasal bridge low nasal root retruded bridge of nose retruded nasal bridge MPheno.ontology concave bridge of nose concave nasal bridge depressed nasal root/bridge MP:0030034 depressed nasal bridge MP:0030034 posterior positioning of the saddle-shaped area that includes the nasal root and the lateral aspects of the nose in relation to the overall facial profile for age; normally, it lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi HP:0005280 reduced size of the saddle-shaped area that includes the nasal root and the lateral aspects of the nose; it lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi 2017-08-29T08:49:05Z decreased nasal bridge size reduced nasal bridge size MPheno.ontology MP:0030035 small nasal bridge MP:0030035 reduced size of the saddle-shaped area that includes the nasal root and the lateral aspects of the nose; it lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi https://orcid.org/0000-0002-6490-7723 reduced length of the saddle-shaped area that includes the nasal root and the lateral aspects of the nose; it lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi 2017-08-29T09:21:45Z decreased nasal bridge length reduced nasal bridge length shortened nasal bridge MPheno.ontology MP:0030036 short nasal bridge MP:0030036 reduced length of the saddle-shaped area that includes the nasal root and the lateral aspects of the nose; it lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi https://orcid.org/0000-0002-6490-7723 anterior positioning of the saddle-shaped area that includes the nasal root and the lateral aspects of the nose in comparison to the usual positioning for age 2017-08-29T09:51:33Z elevated nasal bridge high nasal bridge prominent bridge of nose prominent nasal root protruding bridge of nose protruding nasal bridge MPheno.ontology convex bridge of nose convex nasal bridge MP:0030037 prominent nasal bridge MP:0030037 anterior positioning of the saddle-shaped area that includes the nasal root and the lateral aspects of the nose in comparison to the usual positioning for age HP:0000426 any structural anomaly of the region around the eye socket 2017-08-29T10:13:56Z abnormal periorbital area morphology abnormal periorbital region periorbital region malformation MPheno.ontology MP:0030038 abnormal periorbital region morphology MP:0030038 any structural anomaly of the region around the eye socket https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) that, among other things, control facial expression; facial muscles are derived from the second branchial/pharyngeal arch 2017-08-29T10:57:47Z facial muscle abnormalities abnormal facial musculature morphology facial muscle dysplasia MPheno.ontology MP:0030039 abnormal facial muscle morphology MP:0030039 any structural anomaly of any of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) that, among other things, control facial expression; facial muscles are derived from the second branchial/pharyngeal arch https://en.wikipedia.org/wiki/Facial_muscles absence of any of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) that, among other things, control facial expression; facial muscles are derived from the second branchial/pharyngeal arch 2017-08-29T11:13:23Z missing facial muscle MPheno.ontology MP:0030040 absent facial muscle MP:0030040 absence of any of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) that, among other things, control facial expression; facial muscles are derived from the second branchial/pharyngeal arch https://orcid.org/0000-0002-6490-7723 deviation from the average range of forehead size for an organism 2017-09-07T11:41:07Z forehead size abnormalities MPheno.ontology MP:0030041 abnormal forehead size MP:0030041 deviation from the average range of forehead size for an organism https://orcid.org/0000-0002-6490-7723 presence of an abnormally large forehead 2017-09-07T12:05:29Z enlarged forehead increased forehead size MPheno.ontology MP:0030042 large forehead MP:0030042 presence of an abnormally large forehead https://orcid.org/0000-0002-6490-7723 presence of an abnormally small forehead 2017-09-07T12:28:46Z decreased forehead size reduced forehead size MPheno.ontology MP:0030043 small forehead MP:0030043 presence of an abnormally small forehead https://orcid.org/0000-0002-6490-7723 an abnormally decreased height of the forehead 2017-09-07T12:58:55Z decreased forehead height reduced forehead height shortened forehead MPheno.ontology MP:0030044 short forehead MP:0030044 an abnormally decreased height of the forehead https://orcid.org/0000-0002-6490-7723 any anomaly in the characteristic surface outline or contour of the forehead 2017-09-07T13:06:02Z forehead shape abnormalities MPheno.ontology MP:0030045 abnormal forehead shape MP:0030045 any anomaly in the characteristic surface outline or contour of the forehead https://orcid.org/0000-0002-6490-7723 forehead appearance is more circular than usual as viewed from the front 2017-09-07T13:14:39Z round forehead appearance round forehead shape rounded forehead MPheno.ontology MP:0030046 round forehead MP:0030046 forehead appearance is more circular than usual as viewed from the front https://orcid.org/0000-0002-6490-7723 abnormal flatness of the forehead 2017-09-07T13:33:53Z flattened forehead frontal flattening MPheno.ontology MP:0030047 flat forehead MP:0030047 abnormal flatness of the forehead https://orcid.org/0000-0002-6490-7723 apparently excessive posterior sloping of the forehead in a lateral view 2017-09-07T13:49:10Z inclined forehead posteriorly sloping forehead receding forehead MPheno.ontology MP:0030048 sloping forehead MP:0030048 apparently excessive posterior sloping of the forehead in a lateral view HP:0000340 forward prominence of the entire forehead, due to protrusion of the frontal bone; not to be confused with frontal bossing 2017-09-07T13:55:37Z prominence of the frontal region pronounced forehead protruding forehead protuberant forehead MPheno.ontology bulging forehead MP:0030049 prominent forehead MP:0030049 forward prominence of the entire forehead, due to protrusion of the frontal bone; not to be confused with frontal bossing HP:0011220 increased size of the lower bony framework of the mouth where the inferior teeth are held 2017-09-07T14:17:15Z enlarged lower jaw enlarged mandible increased mandible size increased mandibular size large lower jaw MPheno.ontology MP:0030050 large mandible MP:0030050 increased size of the lower bony framework of the mouth where the inferior teeth are held https://orcid.org/0000-0002-6490-7723 darker color of the foot surface due to excess pigment 2017-09-07T14:46:39Z dark feet foot hyperpigmentation MPheno.ontology MP:0030051 increased foot pigmentation MP:0030051 darker color of the foot surface due to excess pigment https://orcid.org/0000-0002-6490-7723 anomaly in the coloration of the skin of the forehead due to changes in the amount, shape, or distribution of cells producing pigment 2017-09-07T15:12:44Z MPheno.ontology MP:0030052 abnormal forehead pigmentation MP:0030052 anomaly in the coloration of the skin of the forehead due to changes in the amount, shape, or distribution of cells producing pigment https://orcid.org/0000-0002-6490-7723 visually detectable excess of pigment present in the forehead 2017-09-07T15:34:01Z darkening of the forehead forehead hyperpigmentation MPheno.ontology MP:0030053 increased forehead pigmentation MP:0030053 visually detectable excess of pigment present in the forehead https://orcid.org/0000-0002-6490-7723 visually detectable dilution of pigment present in the forehead 2017-09-07T16:12:14Z forehead hypopigmentation reduced forehead pigmentation MPheno.ontology MP:0030054 decreased forehead pigmentation MP:0030054 visually detectable dilution of pigment present in the forehead https://orcid.org/0000-0002-6490-7723 reduced size of the thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla 2017-09-07T16:37:00Z decreased lacrimal bone size reduced lacrimal bone size MPheno.ontology MP:0030055 small lacrimal bone MP:0030055 reduced size of the thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the lacrimal bone, typically resulting in decreased size 2017-09-07T16:43:53Z hypoplastic lacrimal bone MPheno.ontology MP:0030056 lacrimal bone hypoplasia MP:0030056 decrease in the number of normal cells in normal arrangement in the lacrimal bone, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 absence of the thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla 2017-09-07T16:47:19Z missing lacrimal bone MPheno.ontology MP:0030057 absent lacrimal bone MP:0030057 absence of the thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla https://orcid.org/0000-0002-6490-7723 reddish, brown opalescent discoloration of teeth in normal light 2017-09-07T17:05:24Z red teeth MPheno.ontology MP:0030058 erythrodontia MP:0030058 reddish, brown opalescent discoloration of teeth in normal light HP:0030756 absence of the conchae of the ethmoid bone which normally occupy the caudal part of the nasal fossae and form the lateral and superior portions of the turbinate bones in mammals 2017-09-07T17:38:32Z absent ethmoturbinals MPheno.ontology MP:0030059 absent ethmoturbinates MP:0030059 absence of the conchae of the ethmoid bone which normally occupy the caudal part of the nasal fossae and form the lateral and superior portions of the turbinate bones in mammals https://orcid.org/0000-0002-6490-7723 absence of one or both of a pair of depressions formed in the developing face that give rise to the rostral portion of the nasal meatus; the nasal pits indent the frontonasal process and divide it into a medial and two lateral nasal processes 2017-09-07T18:13:48Z absent olfactory pit missing nasal pit missing olfactory pit MPheno.ontology MP:0030060 absent nasal pit MP:0030060 absence of one or both of a pair of depressions formed in the developing face that give rise to the rostral portion of the nasal meatus; the nasal pits indent the frontonasal process and divide it into a medial and two lateral nasal processes https://orcid.org/0000-0002-6490-7723 absence of the paired depression of thickened otic placode epithelium marking the location of the future otic vesicles 2017-09-07T18:24:14Z absent auditory pit absent otic cup MPheno.ontology MP:0030061 absent otic pit MP:0030061 absence of the paired depression of thickened otic placode epithelium marking the location of the future otic vesicles https://orcid.org/0000-0002-6490-7723 abnormal narrowing or constriction of either of the pair of posterior apertures of the nasal cavity that open into the nasopharynx 2017-09-07T18:40:35Z narrow choanae narrow internal nares narrow posterior nares narrowed choanae MPheno.ontology MP:0030062 choanal stenosis MP:0030062 abnormal narrowing or constriction of either of the pair of posterior apertures of the nasal cavity that open into the nasopharynx https://orcid.org/0000-0002-6490-7723 deviation from the average range of face size for an organism 2017-09-08T05:53:02Z abnormal facial size face size abnormalities MPheno.ontology MP:0030063 abnormal face size MP:0030063 deviation from the average range of face size for an organism https://orcid.org/0000-0002-6490-7723 presence of an abnormally small face 2017-09-08T06:00:07Z decreased face size microface microfaces reduced face size short and narrow face small faces MPheno.ontology MP:0030064 small face MP:0030064 presence of an abnormally small face https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the face, typically resulting in decreased size 2017-09-08T06:10:00Z facial hypoplasia hypoplastic face MPheno.ontology MP:0030065 face hypoplasia MP:0030065 decrease in the number of normal cells in normal arrangement in the face, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 an abnormally decreased height (length) of the face 2017-09-08T06:32:34Z decreased face height decreased face length decreased vertical dimension of the face reduced face height reduced face length short faces shortened face shortened faces vertical shortening of the face MPheno.ontology MP:0030066 short face MP:0030066 an abnormally decreased height (length) of the face https://orcid.org/0000-0002-6490-7723 a reduction in the width of the upper and lower face 2017-09-08T06:43:38Z decreased face breadth decreased face width decreased horizontal dimension of the face decreased transverse dimension of the face narrow faces reduced face breadth reduced face width MPheno.ontology thin face thin faces MP:0030067 narrow face MP:0030067 a reduction in the width of the upper and lower face https://orcid.org/0000-0002-6490-7723 presence of an abnormally large face 2017-09-08T07:09:29Z big face big faces enlarged face enlarged faces increased face size increased facial size large faces MPheno.ontology MP:0030068 large face MP:0030068 presence of an abnormally large face https://orcid.org/0000-0002-6490-7723 increased width of the upper and lower face 2017-09-08T07:14:00Z broad faces increased face breadth increased face width increased facial breadth increased facial width increased horizontal dimension of the face increased transverse dimension of the face wide face wide faces MPheno.ontology MP:0030069 broad face MP:0030069 increased width of the upper and lower face https://orcid.org/0000-0002-6490-7723 an abnormally increased height (length) of the face 2017-09-08T07:19:45Z elongated face face elongation facial elongation increased face height increased face length increased facial height increased facial length increased vertical dimension of the face vertical elongation of the face MPheno.ontology MP:0030070 long face MP:0030070 an abnormally increased height (length) of the face https://orcid.org/0000-0002-6490-7723 any anomaly in the characteristic surface outline or contour of the face 2017-09-08T07:27:58Z abnormal facial shape face shape abnormalities MPheno.ontology MP:0030071 abnormal face shape MP:0030071 any anomaly in the characteristic surface outline or contour of the face https://orcid.org/0000-0002-6490-7723 facial appearance is more circular than usual as viewed from the front 2017-09-08T08:00:29Z circular face circular faces round face shape round faces round facial appearance round facial shape rounded face rounded faces MPheno.ontology MP:0030072 round face MP:0030072 facial appearance is more circular than usual as viewed from the front HP:0000311 facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance 2017-09-08T08:11:11Z square face shape square faces square facial shape MPheno.ontology MP:0030073 square face MP:0030073 facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance HP:0000321 absence of fine and sharp appearance of facial features, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues 2017-09-08T08:26:00Z coarse face coarse faces coarse facial appearance MPheno.ontology MP:0030074 coarse facial features MP:0030074 absence of fine and sharp appearance of facial features, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues HP:0000280 excessive hair growth on the external ear; may involve the meatal opening, pinnae or external rim 2017-09-11T06:28:13Z auricular hypertrichosis ear hypertrichosis hairy pinna MPheno.ontology MP:0030075 hairy ears MP:0030075 excessive hair growth on the external ear; may involve the meatal opening, pinnae or external rim https://orcid.org/0000-0002-6490-7723 any anomaly of the space formed within the skull and occupied by the brain, pineal and hypophysis cerebri, parts of the cranial and spinal nerves, blood vessels, meninges and cerebrospinal fluid 2017-09-11T07:34:43Z abnormal intracranial cavity morphology abnormal intracranial space morphology MPheno.ontology MP:0030076 abnormal cranial cavity morphology MP:0030076 any anomaly of the space formed within the skull and occupied by the brain, pineal and hypophysis cerebri, parts of the cranial and spinal nerves, blood vessels, meninges and cerebrospinal fluid http://welovelmc.com/uncategorised/cranialcavity.htm https://en.wikipedia.org/wiki/Cranial_cavity reduced size of the space formed within the skull and occupied by the brain, pineal and hypophysis cerebri, parts of the cranial and spinal nerves, blood vessels, meninges and cerebrospinal fluid 2017-09-11T07:44:49Z decreased cranial cavity size decreased intracranial cavity size decreased intracranial space size reduced cranial cavity size reduced intracranial cavity size reduced intracranial space size small intracranial cavity small intracranial space MPheno.ontology MP:0030077 small cranial cavity MP:0030077 reduced size of the space formed within the skull and occupied by the brain, pineal and hypophysis cerebri, parts of the cranial and spinal nerves, blood vessels, meninges and cerebrospinal fluid https://orcid.org/0000-0002-6490-7723 fusion or abnormal approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw 2017-09-11T08:09:15Z auricular fusion fused ears fusion of external ears MPheno.ontology MP:0030078 synotia MP:0030078 fusion or abnormal approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw HP:0100663 reduced size of the set of long teeth that are the most anterior and prominent in the jaw 2017-09-11T09:21:56Z decreased incisor size incisor microdontia reduced incisor size MPheno.ontology MP:0030079 small incisors MP:0030079 reduced size of the set of long teeth that are the most anterior and prominent in the jaw https://orcid.org/0000-0002-6490-7723 reduced size of the lower set of long teeth that are the most anterior and prominent in the jaw 2017-09-11T09:31:43Z decreased lower incisor size decreased mandibular incisor size reduced lower incisor size reduced mandibular incisor size small mandibular incisors MPheno.ontology MP:0030080 small lower incisors MP:0030080 reduced size of the lower set of long teeth that are the most anterior and prominent in the jaw https://orcid.org/0000-0002-6490-7723 reduced size of the upper set of long teeth that are the most anterior and prominent in the jaw 2017-09-11T09:42:04Z decreased maxillary incisor size decreased upper incisor size reduced maxillary incisor size reduced upper incisor size small maxillary incisors MPheno.ontology MP:0030081 small upper incisors MP:0030081 reduced size of the upper set of long teeth that are the most anterior and prominent in the jaw https://orcid.org/0000-0002-6490-7723 increased length or overgrowth of the lower set of long teeth that are the most anterior and prominent in the jaw 2017-09-11T09:56:17Z increased lower incisor length increased mandibular incisor length long mandibular incisors overgrown lower incisors overgrown mandibular incisors MPheno.ontology MP:0030082 long lower incisors MP:0030082 increased length or overgrowth of the lower set of long teeth that are the most anterior and prominent in the jaw https://orcid.org/0000-0002-6490-7723 increased length or overgrowth of the upper set of long teeth that are the most anterior and prominent in the jaw 2017-09-11T10:03:25Z increased maxillary incisor length increased upper incisor length long maxillary incisors overgrown maxillary incisors overgrown upper incisors MPheno.ontology MP:0030083 long upper incisors MP:0030083 increased length or overgrowth of the upper set of long teeth that are the most anterior and prominent in the jaw https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the tympanic ring, typically resulting in decreased size 2017-09-11T10:24:48Z hypoplastic tympanic ring MPheno.ontology MP:0030084 tympanic ring hypoplasia MP:0030084 decrease in the number of normal cells in normal arrangement in the tympanic ring, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 fusion of the upper and lower jaw; fusion can range from simple mucosal bands (synechiae) to complete bony fusion (synostosis); syngnathia can occur in the midline, or laterally, and it can be uni- or bilateral 2017-09-11T10:41:00Z fusion of the maxilla and mandible maxillomandibular fusion MPheno.ontology MP:0030085 syngnathia MP:0030085 fusion of the upper and lower jaw; fusion can range from simple mucosal bands (synechiae) to complete bony fusion (synostosis); syngnathia can occur in the midline, or laterally, and it can be uni- or bilateral PMID:24385915 https://doi.org/10.1016/j.pedneo.2013.04.009 bony fusion of the upper and lower jaw 2017-09-11T10:50:08Z bony fusion of the jaws bony fusion of the maxilla and mandible bony maxillomandibular fusion maxillomandibular synostosis synostosis of the jaws MPheno.ontology MP:0030086 bony syngnathia MP:0030086 bony fusion of the upper and lower jaw PMID:24385915 https://doi.org/10.1016/j.pedneo.2013.04.009 complete or nearly complete soft tissue fusion of the alveolar ridges 2017-09-11T10:57:08Z alveolar synechiae fibrous fusion of the jaws fibrous maxillomandibular fusion fusion of the alveolar ridges MPheno.ontology MP:0030087 fibrous syngnathia MP:0030087 complete or nearly complete soft tissue fusion of the alveolar ridges HP:0009754 abnormal reduction in the size of one or more teeth 2017-09-11T11:28:03Z decreased tooth size microdont microdontism reduced tooth size small teeth small tooth decreased tooth width reduced tooth width MPheno.ontology MP:0030088 microdontia MP:0030088 abnormal reduction in the size of one or more teeth https://orcid.org/0000-0002-6490-7723 reduced length of the lower set of long teeth that are the most anterior and prominent in the jaw 2017-09-11T11:52:55Z decreased lower incisor length decreased mandibular incisor length reduced lower incisor length reduced mandibular incisor length short mandibular incisors MPheno.ontology MP:0030089 short lower incisors MP:0030089 reduced length of the lower set of long teeth that are the most anterior and prominent in the jaw https://orcid.org/0000-0002-6490-7723 reduced length of the upper set of long teeth that are the most anterior and prominent in the jaw 2017-09-11T12:07:08Z decreased maxillary incisor length decreased upper incisor length reduced maxillary incisor length reduced upper incisor length short maxillary incisors MPheno.ontology MP:0030090 short upper incisors MP:0030090 reduced length of the upper set of long teeth that are the most anterior and prominent in the jaw https://orcid.org/0000-0002-6490-7723 abnormal increase in the size of one or more teeth 2017-09-11T12:28:08Z increased tooth size large teeth large tooth macrodont megadontia megadontism megalodontia increased tooth width MPheno.ontology MP:0030091 macrodontia MP:0030091 abnormal increase in the size of one or more teeth HP:0001572 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe 2017-09-11T12:51:04Z abnormal outer ear helices abnormal outer ear helix MPheno.ontology MP:0030092 abnormal outer ear helix morphology MP:0030092 any structural anomaly of the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe HP:0011039 absence of the largest of the paranasal sinuses, a paired pyramid-shaped air sinus located within the maxillary bone which drains via the maxillary ostium into the infundibulum, then through the hiatus semilunaris into the middle meatus of the nose 2017-09-11T13:08:55Z absent antrum of Highmore absent genyantrum absent maxillary antra absent maxillary antrum missing maxillary sinus MPheno.ontology MP:0030093 absent maxillary sinus MP:0030093 abnormal narrowing or constriction of the large orifice in the occipital bone through which the spinal cord passes to the cranial cavity and becomes continuous with the medulla oblongata 2017-09-11T13:41:18Z constricted foramen magnum great foramen stenosis narrow foramen magnum narrowed foramen magnum MPheno.ontology MP:0030094 foramen magnum stenosis MP:0030094 abnormal narrowing or constriction of the large orifice in the occipital bone through which the spinal cord passes to the cranial cavity and becomes continuous with the medulla oblongata https://orcid.org/0000-0002-6490-7723 any structural anomaly of the midface region which extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base; it is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region; traditionally, the nose and premaxilla are not included in the midface 2017-09-12T08:25:03Z abnormal midfacial region morphology midface abnormalities midface malformation MPheno.ontology MP:0030095 abnormal midface morphology MP:0030095 any structural anomaly of the midface region which extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base; it is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region; traditionally, the nose and premaxilla are not included in the midface HP:0000309 PMID:19125436 any structural anomaly of the region around the ear 2017-09-12T09:04:24Z abnormal periauricular area morphology periauricular region abnormalities periauricular region malformation MPheno.ontology MP:0030096 abnormal periauricular region morphology MP:0030096 any structural anomaly of the region around the ear HP:0000383 https://orcid.org/0000-0002-6490-7723 small indentation anterior to the insertion of the ear 2017-09-12T09:18:17Z pit in front of the ear preauricular earpits preauricular fistulas preauricular pits preauricular sinus MPheno.ontology MP:0030097 preauricular pit MP:0030097 small indentation anterior to the insertion of the ear HP:0004467 PMID:19152421 increase in periorbital soft tissue 2017-09-12T09:39:55Z fullness around the eye sockets periorbital puffiness fullness around the eyes MPheno.ontology MP:0030098 periorbital fullness MP:0030098 increase in periorbital soft tissue HP:0000629 an abnormal difference between the left and right sides of the face 2017-09-12T09:59:57Z asymmetric faces asymmetry of the face asymmetry of the right and left side of the face crooked face unsymmetrical face MPheno.ontology unbalanced face unequal sides of the face uneven face uneven sides of the face MP:0030099 facial asymmetry MP:0030099 an abnormal difference between the left and right sides of the face HP:0000324 unilateral decrease in the number of normal cells in normal arrangement in the facial tissues, including muscles and bones, typically resulting in decreased size of one side of the face 2017-09-12T10:39:31Z hypoplasia of half of the face hypoplasia of one side of the face MPheno.ontology hemifacial microsomia MP:0030100 hemifacial hypoplasia MP:0030100 unilateral decrease in the number of normal cells in normal arrangement in the facial tissues, including muscles and bones, typically resulting in decreased size of one side of the face HP:0011332 https://orcid.org/0000-0002-6490-7723 formation of cavities in the teeth due to a multifactorial bacterial infection that causes demineralization and destruction of the hard tissues of the teeth (enamel, dentin and cementum), usually by production of acid by bacterial fermentation of the food debris accumulated on the tooth surface 2017-09-12T11:17:31Z caries dental caries dental cavities tooth cavities tooth decay MPheno.ontology dental decay rotting teeth saprodontia MP:0030101 carious teeth MP:0030101 formation of cavities in the teeth due to a multifactorial bacterial infection that causes demineralization and destruction of the hard tissues of the teeth (enamel, dentin and cementum), usually by production of acid by bacterial fermentation of the food debris accumulated on the tooth surface http://medical-dictionary.thefreedictionary.com/saprodontia http://www.dictionary.com/browse/dental-caries https://en.wikipedia.org/wiki/Tooth_decay missing the bone that is situated in the orbit on either side of the presphenoid; it generally forms a part of the sphenoid in the adult, and may be independent in the young 2017-09-12T11:40:22Z absence of the lesser wing of the sphenoid bone absence of the small wing of the sphenoid bone missing orbitosphenoid bone MPheno.ontology absent alae orbitales MP:0030102 absent orbitosphenoid bone MP:0030102 missing the bone that is situated in the orbit on either side of the presphenoid; it generally forms a part of the sphenoid in the adult, and may be independent in the young https://orcid.org/0000-0002-6490-7723 any anomaly in the characteristic surface outline or contour of the orbits of an organism 2017-09-12T11:55:13Z abnormal eye socket shape orbit shape abnormalities MPheno.ontology MP:0030103 abnormal orbit shape MP:0030103 any anomaly in the characteristic surface outline or contour of the orbits of an organism https://orcid.org/0000-0002-6490-7723 orbits present a more circular rather than the ususal oval appearance 2017-09-12T12:00:47Z circular eye sockets circular orbits round eye sockets rounded eye sockets rounded orbits MPheno.ontology MP:0030104 round orbits MP:0030104 orbits present a more circular rather than the ususal oval appearance PMID:27671791 https://orcid.org/0000-0002-6490-7723 excessive hair growth on or around the muzzle 2017-09-12T12:24:10Z bushy snout excessively hairy muzzle excessively hairy snout MPheno.ontology MP:0030105 bushy muzzle MP:0030105 excessive hair growth on or around the muzzle https://orcid.org/0000-0002-6490-7723 reduced size of the anvil-shaped, central bone of the three auditory ossicles which articulates with the head of the malleus anteromedially and the stapes inferomedially 2017-09-12T13:14:46Z decreased incus size reduced incus size MPheno.ontology MP:0030106 small incus MP:0030106 reduced size of the anvil-shaped, central bone of the three auditory ossicles which articulates with the head of the malleus anteromedially and the stapes inferomedially https://radiopaedia.org/articles/incus decrease in the number of normal cells in normal arrangement in the incus, typically resulting in decreased size 2017-09-12T13:20:47Z hypoplastic incus MPheno.ontology MP:0030107 incus hypoplasia MP:0030107 decrease in the number of normal cells in normal arrangement in the incus, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the small synovial joint located between the lenticular process on the long crus of the incus and the head of the stapes 2017-09-12T13:30:12Z abnormal incudostapedial articulation MPheno.ontology MP:0030108 abnormal incudostapedial joint morphology MP:0030108 any structural anomaly of the small synovial joint located between the lenticular process on the long crus of the incus and the head of the stapes http://medical-dictionary.thefreedictionary.com/incudostapedial+joint any structural anomaly of the saddle-shaped synovial joint located between the incus and the malleus 2017-09-12T13:35:19Z abnormal incudomallear articulation abnormal incudomallear joint morphology abnormal incudomalleolar articulation MPheno.ontology MP:0030109 abnormal incudomalleolar joint morphology MP:0030109 any structural anomaly of the saddle-shaped synovial joint located between the incus and the malleus http://medical-dictionary.thefreedictionary.com/incudomalleolar+joint bony fusion of the incus and the malleus into a single structure 2017-09-12T13:44:23Z incudomallear fusion MPheno.ontology MP:0030110 incudomalleolar fusion MP:0030110 bony fusion of the incus and the malleus into a single structure https://orcid.org/0000-0002-6490-7723 absence of the synovial articulation between the head of the mandibular condoyloid process and the mandibular fossa and articular tubercle of the temporal bones 2017-09-13T06:26:00Z absent temporomandibular articulation missing temporomandibular joint temporomandibular joint agenesis MPheno.ontology MP:0030111 absent temporomandibular joint MP:0030111 absence of the synovial articulation between the head of the mandibular condoyloid process and the mandibular fossa and articular tubercle of the temporal bones https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the zygomatic bone, typically resulting in decreased size 2017-09-13T06:39:52Z hypoplastic zygomatic bone MPheno.ontology MP:0030112 zygomatic bone hypoplasia MP:0030112 decrease in the number of normal cells in normal arrangement in the zygomatic bone, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in the maxillary sinuses 2017-09-13T07:02:13Z inflamed cheek sinuses inflammation of the maxillary antrum maxillary antritis maxillary sinusitis MPheno.ontology MP:0030113 maxillary sinus inflammation MP:0030113 local accumulation of fluid, plasma proteins, and leukocytes in the maxillary sinuses https://orcid.org/0000-0002-6490-7723 any structural anomaly of the tissue that links the nasal tip to the nasal base, and separates the nares; it is the inferior margin of the nasal septum 2017-09-13T08:05:00Z abnormal columella nasi morphology malformation of the nasal columella MPheno.ontology MP:0030114 abnormal nasal columella morphology MP:0030114 any structural anomaly of the tissue that links the nasal tip to the nasal base, and separates the nares; it is the inferior margin of the nasal septum https://elementsofmorphology.nih.gov/anatomy-nose.shtml any structural anomaly of the tip of the nose located at the junction of the inferior margin of the nasal ridge and the columella 2017-09-13T08:18:22Z nasal tip malformation nose tip malformation MPheno.ontology MP:0030115 abnormal nasal tip morphology MP:0030115 any structural anomaly of the tip of the nose located at the junction of the inferior margin of the nasal ridge and the columella HP:0000436 a splitting of the nasal tip; visually assessable vertical indentation, cleft, or depression of the nasal tip 2017-09-13T08:29:00Z bifid tip of nose cleft nasal tip split nasal tip MPheno.ontology cleft tip of nose notched nasal tip notched tip of nose MP:0030116 bifid nasal tip MP:0030116 a splitting of the nasal tip; visually assessable vertical indentation, cleft, or depression of the nasal tip HP:0000456 visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip 2017-09-13T08:45:39Z bifid nasal bridge split nose MPheno.ontology cleft nasal bridge cleft nose indented bridge of nose MP:0030117 bifid nose MP:0030117 visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip HP:0011803 PMID:19152422 local accumulation of fluid, plasma proteins, and leukocytes in the mucous membranes of the nose and in one or more paranasal sinuses 2017-09-13T09:19:58Z MPheno.ontology MP:0030118 rhinosinusitis MP:0030118 local accumulation of fluid, plasma proteins, and leukocytes in the mucous membranes of the nose and in one or more paranasal sinuses https://orcid.org/0000-0002-6490-7723 https://www.merriam-webster.com/medical/rhinosinusitis any structural anomaly of the posterior extension of the squamosal bone that lies just above the incus 2017-09-13T09:59:23Z retrotympanic process malformation MPheno.ontology MP:0030119 abnormal retrotympanic process morphology MP:0030119 any structural anomaly of the posterior extension of the squamosal bone that lies just above the incus PMID:28566723 absence of the posterior extension of the squamosal bone that normally lies just above the incus 2017-09-13T10:08:40Z MPheno.ontology MP:0030120 absent retrotympanic process MP:0030120 absence of the posterior extension of the squamosal bone that normally lies just above the incus PMID:28566723 https://orcid.org/0000-0002-6490-7723 reduced size of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault 2017-09-13T10:13:14Z decreased squamosal bone size decreased squamous temporal bone size reduced squamosal bone size reduced squamous temporal bone size small squamosal bone small squamous bone small squamous part of temporal bone small temporal squama MPheno.ontology MP:0030121 small temporal bone squamous part MP:0030121 reduced size of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the temporal bone squamous part, typically resulting in decreased size 2017-09-13T10:21:04Z hypoplastic squamosal bone hypoplastic squamous bone hypoplastic squamous part of temporal bone hypoplastic squamous temporal bone hypoplastic temporal squama squamosal bone hypoplasia MPheno.ontology MP:0030122 temporal bone squamous part hypoplasia MP:0030122 decrease in the number of normal cells in normal arrangement in the temporal bone squamous part, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 reduced size of the three bones of the middle ear 2017-09-13T10:30:40Z small middle ear bones MPheno.ontology MP:0030123 small middle ear ossicles MP:0030123 reduced size of the three bones of the middle ear https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the middle ear ossicle, typically resulting in decreased size 2017-09-13T10:36:27Z hypoplastic middle ear bones hypoplastic middle ear ossicles MPheno.ontology MP:0030124 middle ear ossicle hypoplasia MP:0030124 decrease in the number of normal cells in normal arrangement in the middle ear ossicle, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 reduced size of the investing bone that lies on the surface of the malleus 2017-09-13T10:55:54Z decreased gonial bone size decreased gonium size reduced gonial bone size reduced gonium size small gonium MPheno.ontology MP:0030125 small gonial bone MP:0030125 reduced size of the investing bone that lies on the surface of the malleus https://orcid.org/0000-0002-6490-7723 involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head 2017-09-13T11:32:06Z cervical dystonia loxia spasmodic torticollis twisted neck wry neck MPheno.ontology MP:0030126 torticollis MP:0030126 involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head HP:0000473 reduced size of the stirrup-shaped ossicle that is the smallest and innermost of the three auditory ossicles 2017-09-13T12:14:54Z decreased stapes size reduced stapes size MPheno.ontology MP:0030127 small stapes MP:0030127 reduced size of the stirrup-shaped ossicle that is the smallest and innermost of the three auditory ossicles https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the stapes, typically resulting in decreased size 2017-09-13T12:19:22Z hypoplastic stapes stapedial hypoplasia MPheno.ontology MP:0030128 stapes hypoplasia MP:0030128 decrease in the number of normal cells in normal arrangement in the stapes, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins and leukocytes in the tongue 2017-09-14T09:25:01Z glossitis lingual inflammation MPheno.ontology MP:0030129 tongue inflammation MP:0030129 local accumulation of fluid, plasma proteins and leukocytes in the tongue https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in the gums 2017-09-14T09:35:46Z gingival inflammation gingivitis inflamed gums red and swollen gums MPheno.ontology MP:0030130 gum inflammation MP:0030130 local accumulation of fluid, plasma proteins, and leukocytes in the gums https://orcid.org/0000-0002-6490-7723 any structural anomaly of the specialized tissues that both surround and support the teeth, maintaining them in the maxillary and mandibular bones; it consists of four principal components: the gums (gingiva), periodontal ligament, cementum, and alveolar bone proper 2017-09-14T10:03:51Z periodontal abnormalities abnormal periodontal structures MPheno.ontology MP:0030131 abnormal periodontium morphology MP:0030131 any structural anomaly of the specialized tissues that both surround and support the teeth, maintaining them in the maxillary and mandibular bones; it consists of four principal components: the gums (gingiva), periodontal ligament, cementum, and alveolar bone proper https://en.wikipedia.org/wiki/Periodontium local accumulation of fluid, plasma proteins, and leukocytes in the periodontium (including the gums and supporting structures of the teeth) 2017-09-14T10:42:55Z periodontal inflammation periodontitis pyorrhea MPheno.ontology MP:0030132 periodontium inflammation MP:0030132 local accumulation of fluid, plasma proteins, and leukocytes in the periodontium (including the gums and supporting structures of the teeth) https://orcid.org/0000-0002-6490-7723 reduced size of the third branchial arch 2017-09-14T11:28:16Z small third branchial arch MPheno.ontology MP:0030133 small third pharyngeal arch MP:0030133 reduced size of the fourth branchial arch 2017-09-14T11:44:38Z small fourth branchial arch MPheno.ontology MP:0030134 small fourth pharyngeal arch MP:0030134 reduced size of the fourth branchial arch https://orcid.org/0000-0002-6490-7723 reduced size of the sixth branchial arch 2017-09-14T12:08:17Z small sixth branchial arch MPheno.ontology MP:0030135 small sixth pharyngeal arch MP:0030135 reduced size of the sixth branchial arch https://orcid.org/0000-0002-6490-7723 any structural anomaly of the lower set of long teeth that are the most anterior and prominent in the jaw 2017-09-14T12:28:00Z abnormal lower jaw incisor morphology' abnormal mandibular incisor morphology MPheno.ontology MP:0030136 abnormal lower incisor morphology MP:0030136 any structural anomaly of the lower set of long teeth that are the most anterior and prominent in the jaw https://orcid.org/0000-0002-6490-7723 any structural anomaly of the upper set of long teeth that are the most anterior and prominent in the jaw 2017-09-14T12:33:27Z abnormal maxillary incisor morphology abnormal upper jaw incisor morphology MPheno.ontology MP:0030137 abnormal upper incisor morphology MP:0030137 any structural anomaly of the upper set of long teeth that are the most anterior and prominent in the jaw https://orcid.org/0000-0002-6490-7723 anomaly in the color and shading of the lower incisors, which normally presents in shades of white 2017-09-14T12:45:16Z abnormal lower incisor colour abnormal mandibular incisor color abnormal mandibular incisor colour MPheno.ontology MP:0030138 abnormal lower incisor color MP:0030138 anomaly in the color and shading of the lower incisors, which normally presents in shades of white https://orcid.org/0000-0002-6490-7723 anomaly in the color and shading of the upper incisors, which normally presents in shades of white 2017-09-14T12:50:30Z abnormal maxillary incisor color abnormal maxillary incisor colour abnormal upper incisor colour MPheno.ontology MP:0030139 abnormal upper incisor color MP:0030139 anomaly in the color and shading of the upper incisors, which normally presents in shades of white https://orcid.org/0000-0002-6490-7723 acquired diminution of facial muscle tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation 2017-09-18T06:10:38Z atrophic facial muscle atrophic facial muscles MPheno.ontology MP:0030140 facial muscle atrophy MP:0030140 acquired diminution of facial muscle tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation https://orcid.org/0000-0002-6490-7723 severe or complete loss of power of voluntary movement in muscles of the face through injury or disease of it or its nerve supply; facial muscles are innervated by the facial nerve (i.e., the seventh cranial nerve) 2017-09-18T06:44:39Z facial muscle paralysis paralysis of the muscles of the face MPheno.ontology MP:0030141 facial paralysis MP:0030141 severe or complete loss of power of voluntary movement in muscles of the face through injury or disease of it or its nerve supply; facial muscles are innervated by the facial nerve (i.e., the seventh cranial nerve) https://orcid.org/0000-0002-6490-7723 pathological deterioration of facial muscle tissue, often accompanied by loss of function 2017-09-18T07:14:40Z MPheno.ontology MP:0030142 facial muscle degeneration MP:0030142 pathological deterioration of facial muscle tissue, often accompanied by loss of function https://orcid.org/0000-0002-6490-7723 sudden, repetitive, nonrhythmic motor movements (spasms) involving the muscles of the face; common types of facial spasms include rapid, repetitive squinting or blinking, grimacing, mouth twitching, and nose twitching 2017-09-18T07:22:10Z myoclonus of facial muscles cramping of the facial muscles facial spasms facial tics jerking of the facial muscles mimic spasms spasms of the facial muscles twitching of facial muscles MPheno.ontology involuntary facial muscle spasms muscle spasm of the face MP:0030143 facial muscle spasm MP:0030143 sudden, repetitive, nonrhythmic motor movements (spasms) involving the muscles of the face; common types of facial spasms include rapid, repetitive squinting or blinking, grimacing, mouth twitching, and nose twitching HP:0011468 https://www.healthgrades.com/symptoms/facial-spasms any functional anomaly of any of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) that, among other things, control facial expression 2017-09-18T08:01:14Z MPheno.ontology MP:0030144 abnormal facial muscle physiology MP:0030144 any functional anomaly of any of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) that, among other things, control facial expression https://orcid.org/0000-0002-6490-7723 any structural anomaly of the anterior belly of the digastric muscle which arises from a depression on the inner side of the lower border of the mandible called the digastric fossa, close to the symphysis, and passes downward and backward; the anterior body originates from the first pharyngeal arch and is supplied by the trigeminal via the mylohyoid nerve, a branch of the inferior alveolar nerve, itself a branch of the mandibular division of the trigeminal nerve 2017-09-18T08:34:52Z https://en.wikipedia.org/wiki/Digastric_muscle abnormal anterior digastricus morphology abnormal digastric muscle anterior belly morphology MPheno.ontology MP:0030145 abnormal digastric anterior belly morphology MP:0030145 any structural anomaly of the longer, posterior belly of the digastric muscle arising from the mastoid notch which is on the inferior surface of the skull, medial to the mastoid process of the temporal bone; the posterior belly is supplied by the digastric branch of facial nerve 2017-09-18T08:49:22Z https://en.wikipedia.org/wiki/Digastric_muscle abnormal caudal digastricus morphology abnormal digastric muscle posterior belly morphology MPheno.ontology MP:0030146 abnormal digastric posterior belly morphology MP:0030146 any functional anomaly of the digastric muscle whose action elevates the hyoid when the mandible is fixed and depresses the mandible when the hyoid is fixed; when the two bellies of the digastric contract, they pull upward on the hyoid bone; but if the hyoid is fixed from below, the digastric assists in extreme opening of the mouth such as yawning or taking a large bite 2017-09-18T08:56:48Z https://en.wikipedia.org/wiki/Suprahyoid_muscles abnormal digastricus physiology MPheno.ontology MP:0030147 abnormal digastric muscle physiology MP:0030147 any structural anomaly of the flat and triangular paired muscle that runs from the mandible to the hyoid bone forming the muscular floor of the oral cavity of the mouth; it is a suprahyoid muscle derived from the first pharyngeal arch that is situated immediately superior to the anterior belly of the digastric muscle 2017-09-18T09:47:34Z https://en.wikipedia.org/wiki/Mylohyoid_muscle MPheno.ontology MP:0030148 abnormal mylohyoid muscle morphology MP:0030148 any structural anomaly of the slender suprahyoid muscle lying anterior and superior of the posterior belly of the digastric muscle; it arises from the styloid process of the temporal bone and inserts into the body of the hyoid bone; it is perforated, near its insertion, by the intermediate tendon of the digastric muscle; the stylohyoid elevates and retracts the hyoid bone, elongating the floor of the mouth during swallowing 2017-09-18T10:28:26Z https://en.wikipedia.org/wiki/Stylohyoid_muscle https://en.wikipedia.org/wiki/Suprahyoid_muscles MPheno.ontology MP:0030149 abnormal stylohyoid muscle morphology MP:0030149 absence of the slender suprahyoid muscle lying anterior and superior of the posterior belly of the digastric muscle that elevates and retracts the hyoid bone, elongating the floor of the mouth during swallowing 2017-09-18T10:46:31Z MPheno.ontology MP:0030150 absent stylohyoid muscle MP:0030150 absence of the slender suprahyoid muscle lying anterior and superior of the posterior belly of the digastric muscle that elevates and retracts the hyoid bone, elongating the floor of the mouth during swallowing https://en.wikipedia.org/wiki/Stylohyoid_muscle https://en.wikipedia.org/wiki/Suprahyoid_muscles any structural anomaly of the thin quadrilateral muscle occupying the interval between the maxilla and the mandible at the side of the face that forms the anterior part of the cheek or the lateral wall of the oral cavity; it compresses the cheeks against the teeth and is used in acts such as blowing; it is an assistant muscle of mastication and in neonates it is used to suckle 2017-09-18T11:59:36Z https://en.wikipedia.org/wiki/Buccinator_muscle MPheno.ontology MP:0030151 abnormal buccinator muscle morphology MP:0030151 any structural anomaly of the facial muscle that originates from the mandible and inserts into the angle of the mouth; it is innervated by the marginal mandibular branch of the facial nerve and receives its blood supply from the facial artery; the muscle depresses the corners of the mouth which is associated with frowning 2017-09-18T12:37:33Z https://en.wikipedia.org/wiki/Depressor_anguli_oris_muscle abnormal triangularis muscle morphology MPheno.ontology MP:0030152 abnormal depressor anguli oris muscle morphology MP:0030152 local accumulation of fluid, plasma proteins, and leukocytes in dental pulp tissue; commonly associated with a bacterial infection but can also be due to other insults such as repetitive trauma or in rare cases periodontitis 2017-09-21T05:25:53Z pulpitis tooth pulp inflammation MPheno.ontology MP:0030153 dental pulp inflammation MP:0030153 local accumulation of fluid, plasma proteins, and leukocytes in dental pulp tissue; commonly associated with a bacterial infection but can also be due to other insults such as repetitive trauma or in rare cases periodontitis https://en.wikipedia.org/wiki/Pulpitis https://orcid.org/0000-0002-6490-7723 any structural anomaly of the small, air-filled, mucosa-lined cavity that is located in the petrous portion of the temporal bone and houses the auditory ossicles and intratympanic muscles (tensor tympani and stapedius) as well as the chorda tympani and the tympanic plexus of nerves; it is split into two parts: the tympanic cavity proper (the space directly internal to the tympanic membrane) and the epitympanic recess or attic (the space superior to the tympanic membrane) 2017-09-21T06:28:32Z http://www.dummies.com/education/science/anatomy/the-anatomy-of-the-middle-ear/ https://radiopaedia.org/articles/middle-ear https://www.kenhub.com/en/start/c/ear abnormal middle ear cavity morphology MPheno.ontology MP:0030154 abnormal tympanic cavity morphology MP:0030154 absence of the small, air-filled, mucosa-lined cavity that is located in the petrous portion of the temporal bone and houses the auditory ossicles and intratympanic muscles (tensor tympani and stapedius) as well as the chorda tympani and the tympanic plexus of nerves 2017-09-21T08:32:14Z absent middle ear cavity MPheno.ontology MP:0030155 absent tympanic cavity MP:0030155 absence of the small, air-filled, mucosa-lined cavity that is located in the petrous portion of the temporal bone and houses the auditory ossicles and intratympanic muscles (tensor tympani and stapedius) as well as the chorda tympani and the tympanic plexus of nerves https://orcid.org/0000-0002-6490-7723 any structural anomaly of either of the two tiny striated muscles (tensor tympani and stapedius) located within the tympanic cavity; these muscles contract in response to loud noise, inhibiting the vibrations of the malleus, incus and stapes, and reducing the transmission of sound to the inner ear 2017-09-21T09:36:12Z http://emedicine.medscape.com/article/874456-overview#a6 http://teachmeanatomy.info/head/organs/ear/middle-ear/ abnormal auditory ossicle muscle morphology abnormal intratympanic muscle morphology abnormal middle ear muscle morphology MPheno.ontology MP:0030156 abnormal tympanic cavity muscle morphology MP:0030156 any structural anomaly of the tiny striated muscle found in the pyramidal eminence on the posterior wall of the tympanic cavity, whose tendon inserts onto the neck of the stapes; like the tensor tympani, it helps to dampen loud sounds; it is innervated by a small branch from the facial nerve 2017-09-21T10:04:47Z http://www.dummies.com/education/science/anatomy/the-anatomy-of-the-middle-ear/ abnormal stapedius morphology MPheno.ontology MP:0030157 abnormal stapedius muscle morphology MP:0030157 missing the tiny muscle normally found in the pyramidal eminence on the posterior wall of the tympanic cavity, whose tendon inserts onto the neck of the stapes 2017-09-21T10:11:15Z missing stapedius muscle MPheno.ontology MP:0030158 absent stapedius muscle MP:0030158 missing the tiny muscle normally found in the pyramidal eminence on the posterior wall of the tympanic cavity, whose tendon inserts onto the neck of the stapes https://orcid.org/0000-0002-6490-7723 any structural anomaly of the tiny striated muscle that originates superior to the pharyngotympanic tube, the sphenoid, and the temporal bone and inserts into the handle of the malleus; it tenses the tympanic membrane and dampens the movements of the auditory ossicles to prevent ear damage from loud sounds; it is innervated by the trigeminal nerve 2017-09-21T10:51:26Z http://www.dummies.com/education/science/anatomy/the-anatomy-of-the-middle-ear/ abnormal tensor tympani morphology MPheno.ontology MP:0030159 abnormal tensor tympani muscle morphology MP:0030159 any structural anomaly of the hollow bony structure on the ventral, posterior portion of the skull that encloses parts of the middle and inner ear; in most species, it is formed by the tympanic part of the temporal bone 2017-09-21T11:33:05Z abnormal bulla morphology MPheno.ontology abnormal auditory bullae abnormal bulla tympanica morphology abnormal tympanic bulla morphology MP:0030160 abnormal auditory bulla morphology MP:0030160 any structural anomaly of the hollow bony structure on the ventral, posterior portion of the skull that encloses parts of the middle and inner ear; in most species, it is formed by the tympanic part of the temporal bone https://en.wikipedia.org/wiki/Tympanic_part_of_the_temporal_bone absence of the hollow bony structure normally found on the ventral, posterior portion of the skull that encloses parts of the middle and inner ear; in most species, it is formed by the tympanic part of the temporal bone 2017-09-21T11:42:54Z MPheno.ontology MP:0030161 absent auditory bulla MP:0030161 absence of the hollow bony structure normally found on the ventral, posterior portion of the skull that encloses parts of the middle and inner ear; in most species, it is formed by the tympanic part of the temporal bone https://orcid.org/0000-0002-6490-7723 absence of the main curve of the hyoid bone from which the horns extend 2017-09-21T12:11:14Z absent basihyal bone absent basihyoid absent hyoid bone base missing hyoid bone body MPheno.ontology absent corpus ossis hyoidei MP:0030162 absent hyoid bone body MP:0030162 absence of the main curve of the hyoid bone from which the horns extend https://orcid.org/0000-0002-6490-7723 any structural anomaly of either corner of the eye where the upper and lower eyelids meet; more specifically, the inner and outer canthi are, respectively, the medial and lateral ends/angles of the palpebral fissure 2017-09-21T12:37:24Z abnormal canthi abnormal palpebral commissure morphology abnormal palpebral commissures MPheno.ontology MP:0030163 abnormal canthus morphology MP:0030163 any structural anomaly of either corner of the eye where the upper and lower eyelids meet; more specifically, the inner and outer canthi are, respectively, the medial and lateral ends/angles of the palpebral fissure https://en.wikipedia.org/wiki/Canthus any structural anomaly of the inner corner of the eye where the upper and lower eyelids meet, i.e. the medial end/angle of the palpebral fissure 2017-09-21T12:51:12Z abnormal medial canthus morphology abnormal medial palpebral commissure morphology MPheno.ontology MP:0030164 abnormal inner canthus morphology MP:0030164 any structural anomaly of the inner corner of the eye where the upper and lower eyelids meet, i.e. the medial end/angle of the palpebral fissure https://orcid.org/0000-0002-6490-7723 any structural anomaly of the outer corner of the eye where the upper and lower eyelids meet, i.e. the lateral end/angle of the palpebral fissure 2017-09-21T12:59:31Z abnormal lateral canthus morphology abnormal lateral palpebral commissure morphology MPheno.ontology abnormal temporal canthus morphology MP:0030165 abnormal outer canthus morphology MP:0030165 any structural anomaly of the outer corner of the eye where the upper and lower eyelids meet, i.e. the lateral end/angle of the palpebral fissure https://orcid.org/0000-0002-6490-7723 increased distance between the inner corners (medial canthi) of the eyes where the eyelids meet; may be present without or with ocular hypertelorism (where interpupillary distance is increased) 2017-09-21T13:19:13Z dystopia canthorum increased distance between the inner canthi increased distance between the medial canthi increased inner intercanthal distance increased intercanthal distance telecanthus widely separated inner corners of the eyes MPheno.ontology MP:0030166 increased inner canthal distance MP:0030166 increased distance between the inner corners (medial canthi) of the eyes where the eyelids meet; may be present without or with ocular hypertelorism (where interpupillary distance is increased) HP:0000506 PMID:19125427 https://en.wikipedia.org/wiki/Telecanthus decreased distance between the inner corners (medial canthi) of the eyes where the eyelids meet 2017-09-21T13:30:28Z closely spaced inner corners of the eyes decreased distance between the inner canthi decreased distance between the medial canthi decreased inner intercanthal distance reduced intercanthal distance MPheno.ontology MP:0030167 decreased inner canthal distance MP:0030167 decreased distance between the inner corners (medial canthi) of the eyes where the eyelids meet https://orcid.org/0000-0002-6490-7723 upper lips having a reduced amount of soft tissue 2017-09-22T06:07:12Z thin top lip MPheno.ontology thin top lip vermilion thin upper lip vermilion MP:0030168 thin upper lip MP:0030168 upper lips having a reduced amount of soft tissue https://orcid.org/0000-0002-6490-7723 upper lips having an abundance and often an excess of soft tissue 2017-09-22T06:45:20Z fleshy top lip fleshy upper lip full top lip full upper lip prominent top lip prominent upper lip thick top lip MPheno.ontology thick top lip vermilion thick upper lip vermilion MP:0030169 thick upper lip MP:0030169 upper lips having an abundance and often an excess of soft tissue https://orcid.org/0000-0002-6490-7723 absence of the fibrocartilagenous union of the two halves of the mandible (embryonic stages) 2017-09-22T07:50:55Z absent inter-mandibular joint absent intermandibular joint absent symphysis menti MPheno.ontology absent mental symphysis absent symphysis mandibulae absent symphysis mentalis MP:0030170 absent mandibular symphysis MP:0030170 absence of the fibrocartilagenous union of the two halves of the mandible (embryonic stages) https://orcid.org/0000-0002-6490-7723 missing the striated muscles that are located within the orbit but are extrinsic and separate from the eyeball itself and control the movements of the eyeball and the superior eyelid 2017-09-22T09:03:31Z absent extra-ocular muscles missing extra-ocular muscles missing extraocular muscles MPheno.ontology MP:0030171 absent extraocular muscles MP:0030171 missing the striated muscles that are located within the orbit but are extrinsic and separate from the eyeball itself and control the movements of the eyeball and the superior eyelid https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the muscles that attach to an eyelid 2017-09-22T09:27:24Z MPheno.ontology MP:0030172 abnormal eyelid muscle morphology MP:0030172 any structural anomaly of any of the muscles that attach to an eyelid https://orcid.org/0000-0002-6490-7723 any structural anomaly of the ring-like (sphincter) facial muscle composed of skeletal muscle fibers and arranged in concentric bands around the upper and lower eyelids; its function is to close the eyelids, and to help in the passing and draining of tears through the punctum, canaliculi, and lacrimal sac, all parts of the tear drainage system 2017-09-22T10:12:14Z abnormal orbicularis oculi morphology MPheno.ontology MP:0030173 abnormal orbicularis oculi muscle morphology MP:0030173 any structural anomaly of the ring-like (sphincter) facial muscle composed of skeletal muscle fibers and arranged in concentric bands around the upper and lower eyelids; its function is to close the eyelids, and to help in the passing and draining of tears through the punctum, canaliculi, and lacrimal sac, all parts of the tear drainage system http://www.healthline.com/human-body-maps/orbicularis-oculi-muscle absence of the ring-like (sphincter) facial muscle composed of skeletal muscle fibers and arranged in concentric bands around the upper and lower eyelids; its primary function is to close the eyelids 2017-09-22T10:48:40Z absent orbicularis oculi missing orbicularis oculi orbicularis oculi agenesis MPheno.ontology MP:0030174 absent orbicularis oculi muscle MP:0030174 absence of the ring-like (sphincter) facial muscle composed of skeletal muscle fibers and arranged in concentric bands around the upper and lower eyelids; its primary function is to close the eyelids https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the orbicularis oculi muscle, typically resulting in decreased size 2017-09-22T10:54:16Z hypoplastic orbicularis oculi muscle orbicularis oculi hypoplasia MPheno.ontology MP:0030175 orbicularis oculi muscle hypoplasia MP:0030175 decrease in the number of normal cells in normal arrangement in the orbicularis oculi muscle, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the facial muscle that is shaped like a broad, flat sheet, the origin of which extends from the side of the nose to the zygomatic bone; its main function is to elevate the upper lip 2017-09-22T11:14:09Z abnormal levator labii maxillaris morphology abnormal levator labii superioris morphology abnormal quadratus labii superioris morphology MPheno.ontology MP:0030176 abnormal levator labii superioris muscle morphology MP:0030176 any structural anomaly of the facial muscle that is shaped like a broad, flat sheet, the origin of which extends from the side of the nose to the zygomatic bone; its main function is to elevate the upper lip https://en.wikipedia.org/wiki/Levator_labii_superioris missing the facial muscle that is shaped like a broad, flat sheet, the origin of which extends from the side of the nose to the zygomatic bone; its main function is to elevate the upper lip 2017-09-22T11:36:51Z absent levator labii maxillaris muscle absent levator labii superioris absent quadratus labii superioris muscle MPheno.ontology MP:0030177 absent levator labii superioris muscle MP:0030177 missing the facial muscle that is shaped like a broad, flat sheet, the origin of which extends from the side of the nose to the zygomatic bone; its main function is to elevate the upper lip https://orcid.org/0000-0002-6490-7723 any structural anomaly of the soft tissue envelope of the cranial vault that extends from the external occipital protuberance and superior nuchal lines to the supraorbital margins; it consists of 5 layers: the skin (and head hair), connective tissue, epicranial aponeurosis, loose areolar tissue, and pericranium; the first 3 layers are bound together as a single unit that can move along the loose areolar tissue over the pericranium, which is adherent to the calvaria 2017-09-22T13:44:52Z HP:0001965 http://emedicine.medscape.com/article/834808-overview MPheno.ontology MP:0030178 abnormal scalp morphology MP:0030178 any structural anomaly of the stratified squamous epithelium that forms part of the oral mucosa and lines the inner aspect of the oral cavity; depending on the mouth region, the epithelium may be non-keratinized or keratinized; non-keratinized squamous epithelium covers the soft palate, inner lips, inner cheeks, and the floor of the mouth, and ventral surface of the tongue; keratinized squamous epithelium is present in the attached gingiva and hard palate as well as areas of the dorsal surface of the tongue 2017-09-22T14:28:17Z abnormal epithelium of the mouth mucosa abnormal epithelium of the oral mucosa MPheno.ontology MP:0030179 abnormal oral epithelium morphology MP:0030179 any structural anomaly of the stratified squamous epithelium that forms part of the oral mucosa and lines the inner aspect of the oral cavity; depending on the mouth region, the epithelium may be non-keratinized or keratinized; non-keratinized squamous epithelium covers the soft palate, inner lips, inner cheeks, and the floor of the mouth, and ventral surface of the tongue; keratinized squamous epithelium is present in the attached gingiva and hard palate as well as areas of the dorsal surface of the tongue https://en.wikipedia.org/wiki/Oral_mucosa any structural anomaly of the transient epithelial seam that develops by fusion between the epithelial linings of the medial and lateral nasal swellings; shortly after its formation the nasal fin regresses and is replaced by mesenchyme, with exception of its most posterior portion which remains as the bucconasal membrane 2017-09-22T14:59:06Z MPheno.ontology MP:0030180 abnormal nasal fin morphology MP:0030180 any structural anomaly of the transient epithelial seam that develops by fusion between the epithelial linings of the medial and lateral nasal swellings; shortly after its formation the nasal fin regresses and is replaced by mesenchyme, with exception of its most posterior portion which remains as the bucconasal membrane UBERON:0009671 failure of the nasal fins to rupture during development leading to choanal obstruction/atresia 2017-09-22T15:05:54Z MPheno.ontology MP:0030181 persistent nasal fins MP:0030181 failure of the nasal fins to rupture during development leading to choanal obstruction/atresia PMID:14623956 any structural anomaly of the thin, transient epithelial sheet which separates the primordial nasal cavity from the stomatodeum; in mammals, bucconasal membranes demarcate the locations of the paired primitive choanae 2017-09-22T15:26:07Z abnormal bucconasal membrane morphology abnormal bucconasal membrane of Hochstetter morphology abnormal nasobuccal membrane of Hochstetter morphology abnormal oro-nasal membrane morphology MPheno.ontology MP:0030182 abnormal oronasal membrane morphology MP:0030182 any structural anomaly of the thin, transient epithelial sheet which separates the primordial nasal cavity from the stomatodeum; in mammals, bucconasal membranes demarcate the locations of the paired primitive choanae PMID:26293818 http://medical-dictionary.thefreedictionary.com/bucconasal+membrane after lip fusion, degradation of the nasal fin and bucconasal membrane is necessary for reestablishing contact between the neonatal oral and nasal cavities through an open choana and for enabling nasal breathing in neonates failure of the oronasal membrane to rupture during development leading to choanal obstruction 2017-09-22T15:35:41Z persistent bucconasal membrane persistent bucconasal membrane of Hochstetter persistent nasobuccal membrane of Hochstetter persistent oro-nasal membrane MPheno.ontology MP:0030183 persistent oronasal membrane MP:0030183 failure of the oronasal membrane to rupture during development leading to choanal obstruction PMID:19648291 any structural anomaly of the zygomaticus major and/or minor facial muscles that originate from the body of the zygoma and pass downwards to insert into the corner of the mouth and lateral aspect of the upper lip, respectively; these muscles receive their nerve supply on their deep surface from the zygomatic and buccal branches of the facial nerve and lift the corners of the mouth 2017-09-25T07:40:02Z MPheno.ontology MP:0030184 abnormal zygomaticus muscle morphology MP:0030184 any structural anomaly of the zygomaticus major and/or minor facial muscles that originate from the body of the zygoma and pass downwards to insert into the corner of the mouth and lateral aspect of the upper lip, respectively; these muscles receive their nerve supply on their deep surface from the zygomatic and buccal branches of the facial nerve and lift the corners of the mouth ISBN:978-3-642-21836-1 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the slender band of muscle on each side of the face that arises from the zygomatic bone, inserts into the upper lip between the zygomaticus major and the levator labii superioris, and acts to raise the upper lip upward and laterally 2017-09-25T08:01:53Z abnormal lesser zygomatic muscle morphology abnormal musculus zygomaticus minor morphology abnormal zygomaticus minor muscle morphology MPheno.ontology MP:0030185 abnormal minor zygomaticus muscle morphology MP:0030185 any structural anomaly of the slender band of muscle on each side of the face that arises from the zygomatic bone, inserts into the upper lip between the zygomaticus major and the levator labii superioris, and acts to raise the upper lip upward and laterally http://medical-dictionary.thefreedictionary.com/zygomaticus+minor+muscle https://www.merriam-webster.com/medical/zygomaticus%20minor any structural anomaly of the slender band of muscle on each side of the face that arises from the zygomatic bone, inserts into the orbicularis oris and skin at the corner of the mouth, and acts to pull the corner of the mouth upward and backward when smiling or laughing 2017-09-25T08:14:07Z abnormal greater zygomatic muscle morphology abnormal musculus zygomaticus major morphology abnormal zygomaticus major muscle morphology MPheno.ontology MP:0030186 abnormal major zygomaticus muscle morphology MP:0030186 any structural anomaly of the slender band of muscle on each side of the face that arises from the zygomatic bone, inserts into the orbicularis oris and skin at the corner of the mouth, and acts to pull the corner of the mouth upward and backward when smiling or laughing http://medical-dictionary.thefreedictionary.com/zygomaticus+major+muscle https://www.merriam-webster.com/medical/zygomaticus%20major any structural anomaly of the upper portion of the tympanic cavity located above the tympanic membrane; it contains the head of the malleus and the body of the incus 2017-09-25T08:55:38Z abnormal Hyrtl epitympanic recess morphology abnormal epitympanum morphology abnormal tympanic attic morphology MPheno.ontology MP:0030187 abnormal epitympanic recess morphology MP:0030187 any structural anomaly of the upper portion of the tympanic cavity located above the tympanic membrane; it contains the head of the malleus and the body of the incus https://radiopaedia.org/articles/middle-ear https://www.drugs.com/dict/epitympanum.html appearance of the anterior facial part of the face or muzzle containing the oral and nasal regions is more circular than usual 2017-09-25T09:16:13Z round muzzle rounded muzzle rounded snout round nose rounded nose MPheno.ontology MP:0030188 round snout MP:0030188 appearance of the anterior facial part of the face or muzzle containing the oral and nasal regions is more circular than usual https://orcid.org/0000-0002-6490-7723 increased width of the anterior facial part of the face or muzzle containing the oral and nasal regions 2017-09-25T09:42:23Z broad muzzle wide muzzle wide snout broad nose wide nose MPheno.ontology MP:0030189 broad snout MP:0030189 increased width of the anterior facial part of the face or muzzle containing the oral and nasal regions https://orcid.org/0000-0002-6490-7723 decreased size of the anterior facial part of the face or muzzle containing the oral and nasal regions 2017-09-25T09:54:21Z decreased muzzle size reduced muzzle size small muzzle decreased snout size reduced snout size decreased nose size reduced nose size small nose MPheno.ontology MP:0030190 small snout MP:0030190 decreased size of the anterior facial part of the face or muzzle containing the oral and nasal regions https://orcid.org/0000-0002-6490-7723 decreased width of the anterior facial part of the face or muzzle containing the oral and nasal regions 2017-09-25T10:05:29Z narrow muzzle narrow nose MPheno.ontology MP:0030191 narrow snout MP:0030191 decreased width of the anterior facial part of the face or muzzle containing the oral and nasal regions https://orcid.org/0000-0002-6490-7723 muzzle has a curve or tilt such that the tip points downwards 2017-09-25T10:14:06Z downturned muzzle MPheno.ontology MP:0030192 downturned snout MP:0030192 muzzle has a curve or tilt such that the tip points downwards https://orcid.org/0000-0002-6490-7723 decreased length of the vertical groove found on the median line of the upper lip 2017-09-26T11:45:50Z decreased philtral height decreased philtral length decreased philtrum height decreased philtrum length decreased vertical dimension of the philtrum reduced philtral height reduced philtral length reduced philtrum height reduced philtrum length shortened philtrum MPheno.ontology MP:0030193 short philtrum MP:0030193 decreased length of the vertical groove found on the median line of the upper lip https://orcid.org/0000-0002-6490-7723 any structural anomaly of the anterior median suture between the two maxillae of the upper jawbone, located between the inferior border of the nasal aperture and the central incisor teeth; it usually ossifies later in life and becomes a synostosis 2017-09-26T11:56:02Z abnormal sutura intermaxillaris morphology MPheno.ontology MP:0030194 abnormal intermaxillary suture morphology MP:0030194 any structural anomaly of the anterior median suture between the two maxillae of the upper jawbone, located between the inferior border of the nasal aperture and the central incisor teeth; it usually ossifies later in life and becomes a synostosis http://www.anatomyexpert.com/app/structure/1673/43/ https://orcid.org/0000-0002-6490-7723 any structural anomaly of the cranial suture found between the left and right nasal bones 2017-09-26T12:07:16Z MPheno.ontology MP:0030195 abnormal internasal suture morphology MP:0030195 any structural anomaly of the cranial suture found between the left and right nasal bones https://orcid.org/0000-0002-6490-7723 https://www.imaios.com/en/e-Anatomy/Anatomical-Parts/Internasal-suture any structural anomaly of the cranial suture found between the nasal bone and the frontal process of the maxilla 2017-09-26T12:16:26Z abnormal sutura nasomaxillaris morphology MPheno.ontology MP:0030196 abnormal nasomaxillary suture morphology MP:0030196 any structural anomaly of the cranial suture found between the nasal bone and the frontal process of the maxilla https://orcid.org/0000-0002-6490-7723 https://www.imaios.com/en/e-Anatomy/Anatomical-Parts/Nasomaxillary-suture reduced size of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils 2017-09-26T12:50:50Z decreased nasal septum size reduced nasal septum size MPheno.ontology MP:0030197 small nasal septum MP:0030197 reduced size of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the nasal septum, typically resulting in decreased size 2017-09-26T12:55:18Z hypoplastic nasal septum MPheno.ontology MP:0030198 nasal septum hypoplasia MP:0030198 decrease in the number of normal cells in normal arrangement in the nasal septum, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 displacement of the nasal septum in which the top of the cartilaginous ridge leans to the left or the right, causing obstruction of the affected nasal passage; normally, the septum lies centrally, and thus the nasal passages are symmetrical 2017-09-26T13:18:09Z crooked nasal septum nasal septum deviation MPheno.ontology MP:0030199 deviated nasal septum MP:0030199 displacement of the nasal septum in which the top of the cartilaginous ridge leans to the left or the right, causing obstruction of the affected nasal passage; normally, the septum lies centrally, and thus the nasal passages are symmetrical HP:0004411 https://en.wikipedia.org/wiki/Nasal_septum_deviation any structural anomaly of the hyaline cartilage of the nasal septum that is somewhat quadrilateral in shape, thicker at its margins than at its center, and completes the separation between the nasal cavities 2017-09-26T13:28:16Z abnormal quadrangular cartilage morphology abnormal septal nasal cartilage morphology MPheno.ontology MP:0030200 abnormal nasal septum cartilage morphology MP:0030200 any structural anomaly of the hyaline cartilage of the nasal septum that is somewhat quadrilateral in shape, thicker at its margins than at its center, and completes the separation between the nasal cavities https://en.wikipedia.org/wiki/Septal_nasal_cartilage https://orcid.org/0000-0002-6490-7723 absence of the hyaline cartilage of the nasal septum that is somewhat quadrilateral in shape, thicker at its margins than at its center, and completes the separation between the nasal cavities 2017-09-26T13:46:35Z absent nasal septal cartilage absent quadrangular cartilage agenesis of the nasal septal cartilage MPheno.ontology MP:0030201 absent nasal septum cartilage MP:0030201 absence of the hyaline cartilage of the nasal septum that is somewhat quadrilateral in shape, thicker at its margins than at its center, and completes the separation between the nasal cavities https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the nasal septum cartilage, typically resulting in decreased size 2017-09-26T13:55:13Z hypoplastic nasal septal cartilage hypoplastic nasal septum cartilage hypoplastic quadrangular cartilage nasal septal cartilage hypoplasia MPheno.ontology MP:0030202 nasal septum cartilage hypoplasia MP:0030202 decrease in the number of normal cells in normal arrangement in the nasal septum cartilage, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 reduced length of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils 2017-09-26T14:02:30Z decreased nasal septum length reduced nasal septum length shortened nasal septum MPheno.ontology MP:0030203 short nasal septum MP:0030203 reduced length of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils https://orcid.org/0000-0002-6490-7723 increased size of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils 2017-09-26T14:09:46Z enlarged nasal septum increased nasal septum size MPheno.ontology MP:0030204 large nasal septum MP:0030204 increased size of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils https://orcid.org/0000-0002-6490-7723 increased width of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils 2017-09-26T14:24:21Z broad nasal septum increased nasal septum width wide nasal septum MPheno.ontology MP:0030205 thick nasal septum MP:0030205 increased width of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils HP:0009746 https://orcid.org/0000-0002-6490-7723 decreased width of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils 2017-09-26T14:29:23Z decreased nasal septum width narrow nasal septum reduced nasal septum width MPheno.ontology MP:0030206 thin nasal septum MP:0030206 decreased width of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils HP:0009936 https://orcid.org/0000-0002-6490-7723 absence of the zygomaticus major and minor facial muscles that originate from the body of the zygoma and pass downwards to insert into the corner of the mouth and lateral aspect of the upper lip, respectively 2017-09-28T05:55:11Z MPheno.ontology MP:0030207 absent zygomaticus muscle MP:0030207 absence of the zygomaticus major and minor facial muscles that originate from the body of the zygoma and pass downwards to insert into the corner of the mouth and lateral aspect of the upper lip, respectively https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the four paired muscles that originate and insert within the tongue, running along its length; these muscles alter the shape of the tongue by lengthening and shortening it, curling and uncurling its apex and edges, and flattening and rounding its surface; they include the superior longitudinal muscle, the inferior longitudinal muscle, the vertical muscle, and the transverse muscle 2017-09-28T07:38:50Z abnormal intrinsic lingual muscle morphology MPheno.ontology MP:0030208 abnormal intrinsic tongue muscle morphology MP:0030208 any structural anomaly of any of the four paired muscles that originate and insert within the tongue, running along its length; these muscles alter the shape of the tongue by lengthening and shortening it, curling and uncurling its apex and edges, and flattening and rounding its surface; they include the superior longitudinal muscle, the inferior longitudinal muscle, the vertical muscle, and the transverse muscle https://en.wikipedia.org/wiki/Tongue https://orcid.org/0000-0002-6490-7723 https://www.imaios.com/en/e-Anatomy/Anatomical-Parts/Muscles-of-tongue any structural anomaly of any of the four paired muscles that originate outside of and insert into the tongue and act to alter the position of the tongue, allowing for protrusion, retraction, and side-to-side movement; these muscles include the genioglossus, the hyoglossus (often including the chondroglossus), the styloglossus, and the palatoglossus 2017-09-28T08:10:03Z abnormal extrinsic lingual muscle morphology MPheno.ontology MP:0030209 abnormal extrinsic tongue muscle morphology MP:0030209 any structural anomaly of any of the four paired muscles that originate outside of and insert into the tongue and act to alter the position of the tongue, allowing for protrusion, retraction, and side-to-side movement; these muscles include the genioglossus, the hyoglossus (often including the chondroglossus), the styloglossus, and the palatoglossus https://en.wikipedia.org/wiki/Tongue https://orcid.org/0000-0002-6490-7723 https://www.imaios.com/en/e-Anatomy/Anatomical-Parts/Muscles-of-tongue any structural anomaly of the paired, fan-shaped extrinsic tongue muscle which forms the majority of the body of the tongue, arises from the mental spine of the mandible and inserts into the hyoid bone and the bottom of the tongue; its action protracts and depresses the tongue 2017-09-28T09:37:50Z abnormal genioglossal muscle morphology abnormal genioglossus morphology MPheno.ontology MP:0030210 abnormal genioglossus muscle morphology MP:0030210 any structural anomaly of the paired, fan-shaped extrinsic tongue muscle which forms the majority of the body of the tongue, arises from the mental spine of the mandible and inserts into the hyoid bone and the bottom of the tongue; its action protracts and depresses the tongue https://en.wikipedia.org/wiki/Genioglossus https://orcid.org/0000-0002-6490-7723 any structural anomaly of the paired extrinsic tongue muscle that arises from the anterior surface of the styloid process of the mastoid bone and the proximal quarter of the stylohyoid ligament; it passes inferiorly and anteriorly to insert into the side and inferior aspects of the tongue; the muscle fibers of styloglossus merge with those of the hyoglossus; its action aids to retract the tongue and draw up the sides of the tongue to create a trough for swallowing 2017-09-28T09:49:01Z abnormal styloglossus morphology MPheno.ontology MP:0030211 abnormal styloglossus muscle morphology MP:0030211 any structural anomaly of the paired extrinsic tongue muscle that arises from the anterior surface of the styloid process of the mastoid bone and the proximal quarter of the stylohyoid ligament; it passes inferiorly and anteriorly to insert into the side and inferior aspects of the tongue; the muscle fibers of styloglossus merge with those of the hyoglossus; its action aids to retract the tongue and draw up the sides of the tongue to create a trough for swallowing https://orcid.org/0000-0002-6490-7723 https://www.gpnotebook.co.uk/simplepage.cfm?ID=503709774 any structural anomaly of the thin, quadrilateral extrinsic tongue muscle that arises from the side of the body and from the whole length of the greater cornu of the hyoid bone, and passes almost vertically upward to enter the side of the tongue, between the styloglossus and the inferior longitudinal muscle of the tongue; its action depresses and retracts the tongue and makes the dorsum more convex 2017-09-28T09:57:57Z abnormal hyoglossus morphology MPheno.ontology MP:0030212 abnormal hyoglossus muscle morphology MP:0030212 any structural anomaly of the thin, quadrilateral extrinsic tongue muscle that arises from the side of the body and from the whole length of the greater cornu of the hyoid bone, and passes almost vertically upward to enter the side of the tongue, between the styloglossus and the inferior longitudinal muscle of the tongue; its action depresses and retracts the tongue and makes the dorsum more convex https://en.wikipedia.org/wiki/Hyoglossus https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the gonial bone, typically resulting in increased size 2017-09-28T10:16:56Z hyperplastic gonial bone MPheno.ontology MP:0030213 gonial bone hyperplasia MP:0030213 increase in the number of normal cells in normal arrangement in the gonial bone, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 small, local, involuntary muscle contractions affecting a small number of muscle fibers, often causing a flicker of movement visible under the skin; fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron); this leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units 2017-09-28T10:37:25Z fasciculations MPheno.ontology MP:0030214 muscle fasciculation MP:0030214 small, local, involuntary muscle contractions affecting a small number of muscle fibers, often causing a flicker of movement visible under the skin; fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron); this leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units HP:0002380 https://orcid.org/0000-0002-6490-7723 fasciculations affecting the musculature of the face 2017-09-28T10:59:02Z facial fasciculations MPheno.ontology MP:0030215 facial muscle fasciculation MP:0030215 fasciculations affecting the musculature of the face https://orcid.org/0000-0002-6490-7723 fasciculations affecting the tongue muscle 2017-09-28T11:03:01Z lingual fasciculation lingual fasciculations lingual fibrillation lingual fibrillations lingual twitching tongue fasciculation tongue fasciculations tongue fibrillation tongue fibrillations tongue twitching MPheno.ontology MP:0030216 tongue muscle fasciculation MP:0030216 fasciculations affecting the tongue muscle HP:0001308 any structural anomaly of the pear-shaped bony inlet comprising the most anterior and narrowest bony portion of the nasal airway, formed by the nasal and maxillary bones; the maxillary spines mark the inferior margin of the piriform aperture 2017-09-28T11:21:24Z abnormal anterior nasal aperture morphology abnormal pyriform aperture morphology MPheno.ontology MP:0030217 abnormal piriform aperture morphology MP:0030217 any structural anomaly of the pear-shaped bony inlet comprising the most anterior and narrowest bony portion of the nasal airway, formed by the nasal and maxillary bones; the maxillary spines mark the inferior margin of the piriform aperture PMID:17082934 https://radiopaedia.org/articles/pyriform-aperture abnormal narrowing or constriction of the pear-shaped bony inlet comprising the most anterior and narrowest bony portion of the nasal airway 2017-09-28T11:25:40Z anterior nasal aperture stenosis narrowed anterior nasal aperture narrowed piriform aperture narrowed pyriform aperture pyriform aperture stenosis MPheno.ontology MP:0030218 Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of nasal airway obstruction that clinically mimics choanal atresia in a neonate. In choanal atresia, the posterior nasal cavity is obstructed by a bony or membranous plate. However, in CNPAS the anterior nasal cavity is narrowed but patent. piriform aperture stenosis MP:0030218 abnormal narrowing or constriction of the pear-shaped bony inlet comprising the most anterior and narrowest bony portion of the nasal airway PMID:17082934 Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of nasal airway obstruction that clinically mimics choanal atresia in a neonate. In choanal atresia, the posterior nasal cavity is obstructed by a bony or membranous plate. However, in CNPAS the anterior nasal cavity is narrowed but patent. https://www.birpublications.org/doi/10.1259/bjrcr.20150006 presence of one or more saccular lesions lined with epithelium and contained within pathologically formed cavities in the jaw; also non-epithelial cysts (pseudocysts) as they apply to the jaw, e.g., traumatic or solitary cyst, static bone cavity, and aneurysmal bone cyst; true jaw cysts are classified as odontogenic or non-odontogenic 2017-09-28T11:37:32Z cystic jaw cystic jaws jaw cysts MPheno.ontology MP:0030219 jaw cyst MP:0030219 presence of one or more saccular lesions lined with epithelium and contained within pathologically formed cavities in the jaw; also non-epithelial cysts (pseudocysts) as they apply to the jaw, e.g., traumatic or solitary cyst, static bone cavity, and aneurysmal bone cyst; true jaw cysts are classified as odontogenic or non-odontogenic MESH:D007570 RDO:0005912 presence of one or more saccular lesions lined with epithelium and contained within pathologically formed cavities in the mandible 2017-09-28T11:47:31Z cystic mandible lower jaw cyst lower jaw cysts mandibular cysts MPheno.ontology MP:0030220 mandibular cyst MP:0030220 presence of one or more saccular lesions lined with epithelium and contained within pathologically formed cavities in the mandible https://orcid.org/0000-0002-6490-7723 presence of one or more saccular lesions lined with epithelium and contained within pathologically formed cavities in the maxilla 2017-09-28T11:57:23Z cystic maxilla maxillary cysts upper jaw cyst upper jaw cysts MPheno.ontology MP:0030221 maxillary cyst MP:0030221 presence of one or more saccular lesions lined with epithelium and contained within pathologically formed cavities in the maxilla https://orcid.org/0000-0002-6490-7723 excessive growth or abnormal thickening of bone tissue; it may lead to exostosis 2017-09-28T12:24:38Z bone hypertrophy bone overgrowth MPheno.ontology MP:0030222 hyperostosis MP:0030222 excessive growth or abnormal thickening of bone tissue; it may lead to exostosis HP:0100774 https://en.wikipedia.org/wiki/Hyperostosis hyperostosis (bony overgrowth) of the mandible 2017-09-28T13:10:38Z excessive growth of mandibular bone overgrowth of mandibular bone thick lower jaw bone thick mandibular bone hyperostosis of lower jaw hyperostosis of mandibular bone increased ossification of mandibular bone MPheno.ontology increased ossification of lower jaw increased ossification of mandible MP:0030223 mandibular hyperostosis MP:0030223 hyperostosis (bony overgrowth) of the mandible HP:0004472 any structural anomaly of any of the five paired muscles of the soft palate that play important roles in swallowing and breathing; these muscles include the tensor veli palatini, palatoglossus, palatopharyngeus, levator veli palatini, and the musculus uvulae muscles 2017-10-03T08:44:53Z abnormal palatal muscle morphology MPheno.ontology MP:0030224 abnormal soft palate muscle morphology MP:0030224 any structural anomaly of any of the five paired muscles of the soft palate that play important roles in swallowing and breathing; these muscles include the tensor veli palatini, palatoglossus, palatopharyngeus, levator veli palatini, and the musculus uvulae muscles https://en.wikipedia.org/wiki/Soft_palate https://radiopaedia.org/articles/muscles-of-the-soft-palate any structural anomaly of the midline bony landmark at the most superior part of the calvaria, near the midpoint of the sagittal suture (i.e. between the bregma and lambda) 2017-10-03T10:02:54Z abnormalities of the top of the head MPheno.ontology abnormal head vertex morphology abnormal skull vertex morphology abnormal vertex morphology MP:0030225 abnormal cranial vertex morphology MP:0030225 any structural anomaly of the midline bony landmark at the most superior part of the calvaria, near the midpoint of the sagittal suture (i.e. between the bregma and lambda) https://radiopaedia.org/articles/vertex development of numerous growths that are connected to and protrude from the mucous membrane of the middle ear 2017-10-03T10:15:37Z middle ear polyposis MPheno.ontology MP:0030226 middle ear polyps MP:0030226 development of numerous growths that are connected to and protrude from the mucous membrane of the middle ear https://orcid.org/0000-0002-6490-7723 any structural morphology of the elongate recess derived from the first pharyngeal pouch; its distal part contributes to the formation of the tympanic membrane, its proximal part elongates to form the auditory tube, and its cavity gives rise to the tympanic cavity and mastoid antrum 2017-10-03T10:26:13Z MPheno.ontology MP:0030227 abnormal tubotympanic recess morphology MP:0030227 any structural morphology of the elongate recess derived from the first pharyngeal pouch; its distal part contributes to the formation of the tympanic membrane, its proximal part elongates to form the auditory tube, and its cavity gives rise to the tympanic cavity and mastoid antrum http://medicine.academic.ru/156417/tubotympanic_recess https://orcid.org/0000-0002-6490-7723 absence of the elongate recess derived from the first pharyngeal pouch; its distal part contributes to the formation of the tympanic membrane, its proximal part elongates to form the auditory tube, and its cavity gives rise to the tympanic cavity and mastoid antrum 2017-10-03T10:34:40Z MPheno.ontology MP:0030228 absent tubotympanic recess MP:0030228 absence of the elongate recess derived from the first pharyngeal pouch; its distal part contributes to the formation of the tympanic membrane, its proximal part elongates to form the auditory tube, and its cavity gives rise to the tympanic cavity and mastoid antrum http://medicine.academic.ru/156417/tubotympanic_recess https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the dense, fibrous connective tissue joints between cranial and/or facial bones 2017-10-03T10:44:32Z abnormal craniofacial sutures MPheno.ontology MP:0030229 abnormal craniofacial suture morphology MP:0030229 any structural anomaly of any of the dense, fibrous connective tissue joints between cranial and/or facial bones GO:0097094 https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the dense, fibrous connective tissue joints between facial bones 2017-10-03T11:05:07Z abnormal facial sutures MPheno.ontology MP:0030230 abnormal facial suture morphology MP:0030230 any structural anomaly of any of the dense, fibrous connective tissue joints between facial bones GO:0097096 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the suture between the zygomatic process of the maxilla and the maxillary margin of the zygomatic bone 2017-10-03T11:44:11Z MPheno.ontology MP:0030231 abnormal zygomaticomaxillary suture morphology MP:0030231 any structural anomaly of the suture between the zygomatic process of the maxilla and the maxillary margin of the zygomatic bone https://orcid.org/0000-0002-6490-7723 https://radiopaedia.org/articles/zygomaticomaxillary-suture any structural anomaly of the canal located within the internal aspect of the mandible which contains the inferior alveolar nerve, artery and the vein; it starts at the mandibular foramen, on the lingual side of the ramus, continues on the buccal surface of the body of the mandible, and ends at the mental foramen 2017-10-03T11:59:15Z abnormal inferior dental canal morphology MPheno.ontology MP:0030232 abnormal mandibular canal morphology MP:0030232 any structural anomaly of the canal located within the internal aspect of the mandible which contains the inferior alveolar nerve, artery and the vein; it starts at the mandibular foramen, on the lingual side of the ramus, continues on the buccal surface of the body of the mandible, and ends at the mental foramen http://medical-dictionary.thefreedictionary.com/mandibular+canal https://orcid.org/0000-0002-6490-7723 https://radiopaedia.org/articles/mandibular-canal-1 absence of the canal that is normally located within the internal aspect of the mandible and contains the inferior alveolar nerve, artery and the vein 2017-10-03T12:03:41Z absent inferior dental canal MPheno.ontology MP:0030233 absent mandibular canal MP:0030233 absence of the canal that is normally located within the internal aspect of the mandible and contains the inferior alveolar nerve, artery and the vein https://orcid.org/0000-0002-6490-7723 any structural anomaly of the opening located on the medial surface of the ramus of the mandible that is the entrance to the mandibular canal; it transmits the inferior alveolar nerve, a branch of the posterior division of the mandibular division of the trigeminal nerve that supplies all the ipsilateral teeth up to the midline 2017-10-03T12:18:48Z abnormal inferior alveolar foramen morphology MPheno.ontology MP:0030234 abnormal mandibular foramen morphology MP:0030234 any structural anomaly of the opening located on the medial surface of the ramus of the mandible that is the entrance to the mandibular canal; it transmits the inferior alveolar nerve, a branch of the posterior division of the mandibular division of the trigeminal nerve that supplies all the ipsilateral teeth up to the midline https://radiopaedia.org/articles/mandibular-foramen-1 absence of the opening that is normally located on the medial surface of the ramus of the mandible and forms the entrance to the mandibular canal 2017-10-03T12:25:56Z absent inferior alveolar foramen MPheno.ontology MP:0030235 absent mandibular foramen MP:0030235 absence of the opening that is normally located on the medial surface of the ramus of the mandible and forms the entrance to the mandibular canal https://orcid.org/0000-0002-6490-7723 any structural anomaly of the small opening located on the anterior surface of the mandible; the mental nerve, a terminal branch of inferior alveolar nerve, and the mental artery leave the mandibular canal through it 2017-10-03T12:34:14Z abnormal mental foramina morphology MPheno.ontology MP:0030236 abnormal mental foramen morphology MP:0030236 any structural anomaly of the small opening located on the anterior surface of the mandible; the mental nerve, a terminal branch of inferior alveolar nerve, and the mental artery leave the mandibular canal through it https://radiopaedia.org/articles/mental-foramen-1 absence of the small opening located on the anterior surface of the mandible; normally, the mental nerve, a terminal branch of inferior alveolar nerve, and the mental artery leave the mandibular canal through it 2017-10-03T12:40:58Z absent mental foramina MPheno.ontology MP:0030237 absent mental foramen MP:0030237 absence of the small opening located on the anterior surface of the mandible; normally, the mental nerve, a terminal branch of inferior alveolar nerve, and the mental artery leave the mandibular canal through it https://orcid.org/0000-0002-6490-7723 any anomaly in the differentiation of any of the striated muscles that are located within the orbit but are extrinsic and separate from the eyeball and control the movements of the eyeball and the superior eyelid; these include the superior rectus, inferior rectus, medial rectus, lateral rectus, inferior oblique, superior oblique, and levator palpebrae superioris 2017-10-03T13:36:23Z abnormal extra-ocular muscle development MPheno.ontology MP:0030238 abnormal extraocular muscle development MP:0030238 any anomaly in the differentiation of any of the striated muscles that are located within the orbit but are extrinsic and separate from the eyeball and control the movements of the eyeball and the superior eyelid; these include the superior rectus, inferior rectus, medial rectus, lateral rectus, inferior oblique, superior oblique, and levator palpebrae superioris https://orcid.org/0000-0002-6490-7723 any anomaly in the differentiation of any of the smooth muscles located within the eye 2017-10-03T13:41:10Z abnormal intra-ocular muscle development MPheno.ontology MP:0030239 abnormal intraocular muscle development MP:0030239 any anomaly in the differentiation of any of the smooth muscles located within the eye https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the four muscles located above the hyoid bone in the neck; these muscles include the digastric, stylohyoid, geniohyoid, and mylohyoid muscles and are all pharyngeal muscles, with the exception of the geniohyoid muscle; they have different actions but in general assist in elevating the hyoid bone and widening the esophagus during swallowing 2017-10-03T14:20:37Z suprahyoid muscle dysplasia MPheno.ontology MP:0030240 abnormal suprahyoid muscle morphology MP:0030240 any structural anomaly of any of the four muscles located above the hyoid bone in the neck; these muscles include the digastric, stylohyoid, geniohyoid, and mylohyoid muscles and are all pharyngeal muscles, with the exception of the geniohyoid muscle; they have different actions but in general assist in elevating the hyoid bone and widening the esophagus during swallowing https://en.wikipedia.org/wiki/Suprahyoid_muscles absence of either or both of the two pits that appear bilaterally in the region destined to become the forebrain as the cranial neural folds fuse; these optic pits or sulci continue to deepen laterally and bulge from the two sides of the forebrain to become the optic vesicles 2017-10-03T15:29:44Z absent optic pits absent optic sulci absent optic sulcus MPheno.ontology MP:0030241 absent optic pit MP:0030241 absence of either or both of the two pits that appear bilaterally in the region destined to become the forebrain as the cranial neural folds fuse; these optic pits or sulci continue to deepen laterally and bulge from the two sides of the forebrain to become the optic vesicles https://orcid.org/0000-0002-6490-7723 reduced size of either or both of the two pits that appear bilaterally in the region destined to become the forebrain as the cranial neural folds fuse; these optic pits or sulci continue to deepen laterally and bulge from the two sides of the forebrain to become the optic vesicles 2017-10-03T15:39:13Z decreased optic pit size decreased optic sulcus size reduced optic pit size reduced optic sulcus size small optic pits small optic sulci small optic sulcus MPheno.ontology MP:0030242 small optic pit MP:0030242 reduced size of either or both of the two pits that appear bilaterally in the region destined to become the forebrain as the cranial neural folds fuse; these optic pits or sulci continue to deepen laterally and bulge from the two sides of the forebrain to become the optic vesicles https://orcid.org/0000-0002-6490-7723 any structural anomaly of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw 2017-10-06T07:38:52Z chin abnormalities abnormal mental region morphology MPheno.ontology abnormal mentum morphology MP:0030243 abnormal chin morphology MP:0030243 any structural anomaly of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw https://elementsofmorphology.nih.gov/anatomy-head_face.shtml https://orcid.org/0000-0002-6490-7723 decreased vertical dimension of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw 2017-10-06T07:51:51Z decreased chin height decreased chin length reduced chin height reduced chin length shortened chin vertical deficiency of chin MPheno.ontology short mentum MP:0030244 short chin MP:0030244 decreased vertical dimension of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw https://elementsofmorphology.nih.gov/anatomy-head_face.shtml https://orcid.org/0000-0002-6490-7723 overall shape of the head is more circular than usual as viewed from the front 2017-10-06T08:02:22Z circular head round head shape rounded head MPheno.ontology MP:0030245 round head MP:0030245 overall shape of the head is more circular than usual as viewed from the front https://orcid.org/0000-0002-6490-7723 any anomaly of the cheek - one of two bilateral soft tissue structures located in the midface region between the zygoma and the mandible 2017-10-06T08:13:27Z cheek abnormalities MPheno.ontology MP:0030246 abnormal cheek morphology MP:0030246 any anomaly of the cheek - one of two bilateral soft tissue structures located in the midface region between the zygoma and the mandible PMID:19125436 increased prominence or roundness of the soft tissues between the zygomata and the mandible 2017-10-06T08:28:11Z pronounced cheeks MPheno.ontology MP:0030247 prominent cheeks MP:0030247 increased prominence or roundness of the soft tissues between the zygomata and the mandible HP:0000293 https://orcid.org/0000-0002-6490-7723 reduced width of the upper bony framework of the mouth where the superior teeth are held 2017-10-06T09:55:31Z decreased breadth of the maxilla decreased breadth of the upper jaw bone decreased maxillary breadth decreased maxillary width decreased transverse dimension of the maxilla decreased width of the maxilla decreased width of the upper jaw bone narrow upper jaw bone reduced breadth of the maxilla reduced breadth of the upper jaw bone reduced maxillary breadth reduced maxillary width reduced transverse dimension of the maxilla reduced width of the maxilla reduced width of the upper jaw bone MPheno.ontology MP:0030248 narrow maxilla MP:0030248 reduced width of the upper bony framework of the mouth where the superior teeth are held https://orcid.org/0000-0002-6490-7723 reduced size of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout 2017-10-06T10:06:34Z decreased frontonasal prominence size reduced frontonasal prominence size small forebrain process small forebrain prominence small frontonasal mass small frontonasal process MPheno.ontology MP:0030249 small frontonasal prominence MP:0030249 reduced size of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the frontonasal prominence, typically resulting in decreased size 2017-10-06T10:11:27Z hypoplastic forebrain process hypoplastic forebrain prominence hypoplastic frontonasal mass hypoplastic frontonasal process hypoplastic frontonasal prominence MPheno.ontology MP:0030250 frontonasal prominence hypoplasia MP:0030250 decrease in the number of normal cells in normal arrangement in the frontonasal prominence, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increased width of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout 2017-10-06T10:15:16Z broad forebrain process broad forebrain prominence broad frontonasal mass broad frontonasal process wide forebrain process wide forebrain prominence wide frontonasal mass wide frontonasal process wide frontonasal prominence MPheno.ontology MP:0030251 broad frontonasal prominence MP:0030251 increased width of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout https://orcid.org/0000-0002-6490-7723 decreased width of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout 2017-10-06T10:20:25Z narrow forebrain process narrow forebrain prominence narrow frontonasal mass narrow frontonasal process MPheno.ontology MP:0030252 narrow frontonasal prominence MP:0030252 decreased width of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout https://orcid.org/0000-0002-6490-7723 the orbits do not lie on the same horizontal plane, that is, one eye is lower than the other 2017-10-06T10:31:00Z eyes at different heights misaligned eyes unequal eye height uneven eyes vertical misalignment of the orbits MPheno.ontology MP:0030253 vertical orbital dystopia MP:0030253 the orbits do not lie on the same horizontal plane, that is, one eye is lower than the other HP:0030867 any structural anomaly of either of the two arches (crescent arrangements) of teeth, one on each jaw, that together constitute the dentition 2017-10-06T11:16:00Z MPheno.ontology MP:0030254 abnormal dental arch morphology MP:0030254 any structural anomaly of either of the two arches (crescent arrangements) of teeth, one on each jaw, that together constitute the dentition https://en.wikipedia.org/wiki/Dental_arch any structural anomaly of the dental arch formed by the teeth of the maxilla (upper jaw bone) 2017-10-06T11:21:04Z abnormal superior dental arch morphology abnormal upper dental arch morphology MPheno.ontology MP:0030255 abnormal maxillary dental arch morphology MP:0030255 any structural anomaly of the dental arch formed by the teeth of the maxilla (upper jaw bone) https://orcid.org/0000-0002-6490-7723 any structural anomaly of the dental arch formed by the teeth of the mandible (lower jaw bone) 2017-10-06T11:25:00Z abnormal inferior dental arch morphology abnormal lower dental arch morphology MPheno.ontology MP:0030256 abnormal mandibular dental arch morphology MP:0030256 any structural anomaly of the dental arch formed by the teeth of the mandible (lower jaw bone) https://orcid.org/0000-0002-6490-7723 greater than the expected number of benign tumors consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic epithelial cells in the tongue 2017-10-06T11:34:09Z MPheno.ontology lingual papilloma tongue papilloma MP:0030257 increased tongue papilloma incidence MP:0030257 greater than the expected number of benign tumors consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic epithelial cells in the tongue https://orcid.org/0000-0002-6490-7723 reduced size of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint 2017-10-06T11:50:41Z decreased mandibular condyloid process size reduced mandibular condyloid process size small mandibular condylar process MPheno.ontology MP:0030258 small mandibular condyloid process MP:0030258 reduced size of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the mandibular condyloid process, typically resulting in decreased size 2017-10-06T11:58:49Z hypoplastic mandibular condylar process hypoplastic mandibular condyloid process mandibular condylar process hypoplasia MPheno.ontology MP:0030259 mandibular condyloid process hypoplasia MP:0030259 decrease in the number of normal cells in normal arrangement in the mandibular condyloid process, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the transverse suture across the back of the hard palate that separates the maxillary shelf of the palate from the horizontal plates of the palatine bones 2017-10-06T12:25:24Z MPheno.ontology abnormal sutura palatomaxillaris morphology MP:0030260 abnormal palatomaxillary suture morphology MP:0030260 any structural anomaly of the transverse suture across the back of the hard palate that separates the maxillary shelf of the palate from the horizontal plates of the palatine bones http://www.anatomyexpert.com/app/structure/1685/980/ any structural anomaly of the long, arched process that projects from the lower region of the squamous part of the temporal bone and articulates with the zygomatic bone; this process is at first directed lateralward, its two surfaces looking upward and downward; it then appears as if twisted inward upon itself, and runs forward, its surfaces now looking medialward and lateralward 2017-10-06T13:10:15Z abnormal temporal zygomatic process morphology abnormal zygomatic process of temporal bone morphology MPheno.ontology MP:0030261 abnormal temporal bone zygomatic process morphology MP:0030261 any structural anomaly of the long, arched process that projects from the lower region of the squamous part of the temporal bone and articulates with the zygomatic bone; this process is at first directed lateralward, its two surfaces looking upward and downward; it then appears as if twisted inward upon itself, and runs forward, its surfaces now looking medialward and lateralward https://en.wikipedia.org/wiki/Zygomatic_process_of_temporal_bone bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline; this is not the same as prominent forehead 2017-10-11T06:38:47Z frontal protuberance MPheno.ontology MP:0030262 frontal bossing MP:0030262 bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline; this is not the same as prominent forehead HP:0002007 PMID:19125436 abnormal prominence or protrusion of various bones of the skull; most often occurs in the frontal bones beneath the forehead 2017-10-11T09:16:20Z skull bossing MPheno.ontology MP:0030263 cranial bossing MP:0030263 abnormal prominence or protrusion of various bones of the skull; most often occurs in the frontal bones beneath the forehead https://en.wikipedia.org/wiki/Skull_bossing an area of marked prominence or protrusion in the occipital region at the back of the skull 2017-10-11T09:21:17Z bossing of the occipital bone MPheno.ontology MP:0030264 occipital bossing MP:0030264 an area of marked prominence or protrusion in the occipital region at the back of the skull https://orcid.org/0000-0002-6490-7723 an area of marked prominence or protrusion in the parietal region 2017-10-11T09:47:57Z bossing of the parietal bone MPheno.ontology MP:0030265 parietal bossing MP:0030265 an area of marked prominence or protrusion in the parietal region HP:0004641 https://orcid.org/0000-0002-6490-7723 reduced size of the triangular flat bone of the nasal septum 2017-10-11T10:01:55Z decreased vomer bone size reduced vomer bone size MPheno.ontology MP:0030266 small vomer bone MP:0030266 reduced size of the triangular flat bone of the nasal septum https://orcid.org/0000-0002-6490-7723 a decrease in the expected angle formed by a line representing the floor of the anterior cranial fossa intersecting a line representing the axis of the clivus of the base of the skull 2017-10-11T10:15:43Z decreased basicranial angle decreased cranial base angle reduced basicranial angle reduced basicranium angle reduced cranial base angle small basicranial angle small basicranium angle small cranial base angle MPheno.ontology MP:0030267 decreased basicranium angle MP:0030267 a decrease in the expected angle formed by a line representing the floor of the anterior cranial fossa intersecting a line representing the axis of the clivus of the base of the skull https://orcid.org/0000-0002-6490-7723 congenital, complete or partial, absence of one or both jaws; total absence of the maxilla and/or mandible is extremely rare in mammals; when agnathia occurs, it may be combined with cyclopia or synotia 2017-10-11T10:34:59Z absent jaw absent jaws MPheno.ontology MP:0030268 agnathia MP:0030268 congenital, complete or partial, absence of one or both jaws; total absence of the maxilla and/or mandible is extremely rare in mammals; when agnathia occurs, it may be combined with cyclopia or synotia https://mdefine.org/a/agnathia-37b.html absence of the upturned perpendicular extremity of the mandible 2017-10-11T11:15:05Z absent mandible ramus missing mandible ramus missing mandibular ramus MPheno.ontology MP:0030269 absent mandibular ramus MP:0030269 absence of the upturned perpendicular extremity of the mandible https://orcid.org/0000-0002-6490-7723 abnormal posterior-shifted positioning of the chin in relation to the rest of the facial skeleton; occlusion is normal 2017-10-11T11:40:14Z receding chin recessed chin MPheno.ontology MP:0030270 retrogenia MP:0030270 abnormal posterior-shifted positioning of the chin in relation to the rest of the facial skeleton; occlusion is normal http://www.oxfordreference.com/view/10.1093/oi/authority.20110803100416924 https://www2.aofoundation.org/wps/portal/surgerymobile?contentUrl=/srg/95b/01-Diagnosis/D300-ChinSagittal.jsp&soloState=precomp&title=&Language=en any structural anomaly of the circular aperture (foramen) located in the middle cranial fossa, inferomedial to the superior orbital fissure at the base of greater wing of sphenoid; its medial border is formed by the lateral wall of the sphenoid sinus; it runs downwards and laterally in an oblique path and joins the middle cranial fossa with the pterygopalatine fossa; it transmits the maxillary branch of trigeminal nerve, artery of foramen rotundum, and emissary veins 2017-10-11T11:54:28Z abnormal foramen rotundum of the skull abnormal foramen rotundum ossis sphenoidalis abnormal round foramen morphology MPheno.ontology MP:0030271 abnormal foramen rotundum morphology MP:0030271 any structural anomaly of the circular aperture (foramen) located in the middle cranial fossa, inferomedial to the superior orbital fissure at the base of greater wing of sphenoid; its medial border is formed by the lateral wall of the sphenoid sinus; it runs downwards and laterally in an oblique path and joins the middle cranial fossa with the pterygopalatine fossa; it transmits the maxillary branch of trigeminal nerve, artery of foramen rotundum, and emissary veins https://radiopaedia.org/articles/foramen-rotundum any structural anomaly of the oval-shaped opening in the middle cranial fossa located at the posterior base of the greater wing of the sphenoid bone, lateral to the lingual; it transmits the mandibular division of the trigeminal nerve, accessory meningeal artery, emissary veins between the cavernous sinuses and pterygoid plexus, otic ganglion, and occasionally the nervus spinosus and lesser petrosal nerve 2017-10-11T12:45:31Z abnormal foramen ovale basis cranii abnormal foramen ovale cranii MPheno.ontology MP:0030272 abnormal cranial foramen ovale morphology MP:0030272 any structural anomaly of the oval-shaped opening in the middle cranial fossa located at the posterior base of the greater wing of the sphenoid bone, lateral to the lingual; it transmits the mandibular division of the trigeminal nerve, accessory meningeal artery, emissary veins between the cavernous sinuses and pterygoid plexus, otic ganglion, and occasionally the nervus spinosus and lesser petrosal nerve https://radiopaedia.org/articles/foramen-ovale-skull abnormal posterior-shifted positioning of the lower jaw (mandible) relative to the facial skeleton and soft tissues 2017-10-11T13:24:03Z mandibular retrognathism mandibular retroposition receding lower jaw receding mandible retrognathia of lower jaw MPheno.ontology MP:0030273 mandibular retrognathia MP:0030273 abnormal posterior-shifted positioning of the lower jaw (mandible) relative to the facial skeleton and soft tissues https://orcid.org/0000-0002-6490-7723 abnormal posterior-shifted positioning of the upper jaw (maxilla) relative to the facial skeleton and soft tissues 2017-10-11T13:28:53Z maxillary retrognathism maxillary retroposition receding maxilla receding upper jaw retrognathia of upper jaw MPheno.ontology MP:0030274 maxillary retrognathia MP:0030274 abnormal posterior-shifted positioning of the upper jaw (maxilla) relative to the facial skeleton and soft tissues https://orcid.org/0000-0002-6490-7723 reduced thickness of the single bone forming the forehead and roof of the eye orbit 2017-10-13T07:50:01Z decreased frontal bone thickness reduced frontal bone thickness thinned frontal bone MPheno.ontology MP:0030275 thin frontal bone MP:0030275 reduced thickness of the single bone forming the forehead and roof of the eye orbit https://orcid.org/0000-0002-6490-7723 presence of an abnormal skin-covered gap in the front of the head, usually due to increased distance between the frontal bones 2017-10-13T09:35:24Z MPheno.ontology MP:0030276 anterior cranium occultum MP:0030276 presence of an abnormal skin-covered gap in the front of the head, usually due to increased distance between the frontal bones PMID:20106874 reduced thickness of the bone of the cranium that lies above and anterior to the occipital bone in some mammals 2017-10-13T09:41:37Z decreased interparietal bone thickness reduced interparietal bone thickness thinned interparietal bone MPheno.ontology MP:0030277 thin interparietal bone MP:0030277 reduced thickness of the bone of the cranium that lies above and anterior to the occipital bone in some mammals https://orcid.org/0000-0002-6490-7723 increased thickness of the bones of the skull enclosing the brain 2017-10-13T09:51:58Z thick cranial bones calvarial thickening increased calvarial thickness increased thickness of the calvaria increased thickness of the calvarium increased thickness of the cranial vault increased thickness of the skull cap thick calvaria thick calvarium thick cranial vault thickened calvarium thickened cranial vault thickened neurocranium thickened skull cap thickening of the calvaria MPheno.ontology MP:0030278 thick neurocranium MP:0030278 increased thickness of the bones of the skull enclosing the brain https://orcid.org/0000-0002-6490-7723 decreased thickness of the bones of the skull enclosing the brain 2017-10-13T10:06:11Z thin cranial bones calvarial thinning decreased calvarial thickness decreased thickness of the calvaria decreased thickness of the calvarium decreased thickness of the cranial vault decreased thickness of the skull cap thin calvaria thin calvarium thin cranial vault thinned calvarium thinned cranial vault thinned neurocranium thinned skull cap thinning of the calvaria MPheno.ontology MP:0030279 thin neurocranium MP:0030279 decreased thickness of the bones of the skull enclosing the brain https://orcid.org/0000-0002-6490-7723 length reduction of the paired membranous bones located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium 2017-10-13T10:56:18Z decreased parietal bone length reduced parietal bone length short parietal bones MPheno.ontology MP:0030280 short parietal bone MP:0030280 length reduction of the paired membranous bones located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium https://orcid.org/0000-0002-6490-7723 reduced thickness of the paired membranous bones located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium 2017-10-13T11:12:39Z decreased parietal bone thickness reduced parietal bone thickness thin parietal bones MPheno.ontology MP:0030281 thin parietal bone MP:0030281 reduced thickness of the paired membranous bones located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium https://orcid.org/0000-0002-6490-7723 increased width of the bone on the dorsal side of the great foramen of the skull, which usually forms a part of the occipital in the adult, but is distinct in the young 2017-10-13T11:37:06Z broadened supraoccipital bone wide supraoccipital bone widened supraoccipital bone MPheno.ontology MP:0030282 broad supraoccipital bone MP:0030282 increased width of the bone on the dorsal side of the great foramen of the skull, which usually forms a part of the occipital in the adult, but is distinct in the young https://orcid.org/0000-0002-6490-7723 reduced size of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion) 2017-10-13T11:51:50Z decreased mandibular coronoid process size reduced mandibular coronoid process size small coronoid process of the mandible small mandible coronoid process MPheno.ontology MP:0030283 small mandibular coronoid process MP:0030283 reduced size of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion) https://orcid.org/0000-0002-6490-7723 length reduction or truncation of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion) 2017-10-13T12:06:10Z decreased mandibular coronoid process length reduced mandibular coronoid process length short coronoid process of the mandible short mandible coronoid process truncated mandible coronoid process truncated mandibular coronoid process MPheno.ontology MP:0030284 short mandibular coronoid process MP:0030284 length reduction or truncation of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion) https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the mandibular coronoid process, typically resulting in decreased size 2017-10-13T12:12:21Z hypoplastic coronoid process of the mandible hypoplastic mandible coronoid process hypoplastic mandibular coronoid process MPheno.ontology MP:0030285 mandibular coronoid process hypoplasia MP:0030285 decrease in the number of normal cells in normal arrangement in the mandibular coronoid process, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the occipital bone, typically resulting in decreased size 2017-10-13T12:20:11Z hypoplastic occipital bone MPheno.ontology MP:0030286 occipital bone hypoplasia MP:0030286 decrease in the number of normal cells in normal arrangement in the occipital bone, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increased size of the bone at the lower, posterior part of the skull 2017-10-13T12:23:41Z increased occipital bone size large occipital bone MPheno.ontology MP:0030287 enlarged occipital bone MP:0030287 increased size of the bone at the lower, posterior part of the skull https://orcid.org/0000-0002-6490-7723 increased width of the bone at the lower, posterior part of the skull 2017-10-13T12:27:02Z broadened occipital bone wide occipital bone widened occipital bone MPheno.ontology MP:0030288 broad occipital bone MP:0030288 increased width of the bone at the lower, posterior part of the skull https://orcid.org/0000-0002-6490-7723 abnormal flatness of the bone at the lower, posterior part of the skull 2017-10-13T12:30:43Z flattened occipital bone MPheno.ontology MP:0030289 flat occipital bone MP:0030289 abnormal flatness of the bone at the lower, posterior part of the skull https://orcid.org/0000-0002-6490-7723 absence of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult 2017-10-18T07:54:59Z absent palatine velum absent velum absent velum palatinum agenesis of the soft palate aplasia of the soft palate missing palatine velum missing soft palate missing velum missing velum palatinum soft palate agenesis soft palate aplasia MPheno.ontology MP:0030290 absent soft palate MP:0030290 absence of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult https://orcid.org/0000-0002-6490-7723 reduced length of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult 2017-10-18T08:02:02Z decreased soft palate length reduced soft palate length short palatine velum short velum short velum palatinum shortened soft palate MPheno.ontology MP:0030291 short soft palate MP:0030291 reduced length of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult https://orcid.org/0000-0002-6490-7723 any structural anomaly of the broad, thin, ribbon-like muscle that tenses the soft palate 2017-10-18T09:05:21Z abnormal tensor muscle of the velum palatinum morphology abnormal tensor veli palatini morphology MPheno.ontology abnormal musculus tensor veli palatini abnormal tensor palati morphology MP:0030292 abnormal tensor veli palatini muscle morphology MP:0030292 any structural anomaly of the broad, thin, ribbon-like muscle that tenses the soft palate https://en.wikipedia.org/wiki/Tensor_veli_palatini_muscle reduced size of the broad, thin, ribbon-like muscle that tenses the soft palate 2017-10-18T09:15:12Z small tensor muscle of the velum palatinum small tensor veli palatini MPheno.ontology small musculus tensor veli palatini small tensor palati MP:0030293 small tensor veli palatini muscle MP:0030293 reduced size of the broad, thin, ribbon-like muscle that tenses the soft palate https://orcid.org/0000-0002-6490-7723 any structural anomaly of the paired cylindrical muscle that forms a V-shaped sling behind and above the soft palate; it originates from the apex of the inferior surface of the petrous temporal bone and the medial rim of the auditory tube, and inserts into the palatine aponeurosis between the two heads of palatopharyngeus; it elevates and laterally deviates the soft palate; it also aids the tensor veli palatini in opening the auditory tube on swallowing to allow equalization of pressure between the middle ear and pharynx 2017-10-18T09:21:20Z abnormal levator muscle of the soft palate morphology abnormal levator muscle of the velum palatinum morphology abnormal levator veli morphology abnormal levator veli palatini morphology MPheno.ontology abnormal levator palati morphology abnormal musculus levator veli palatini MP:0030294 abnormal levator veli palatini muscle morphology MP:0030294 any structural anomaly of the paired cylindrical muscle that forms a V-shaped sling behind and above the soft palate; it originates from the apex of the inferior surface of the petrous temporal bone and the medial rim of the auditory tube, and inserts into the palatine aponeurosis between the two heads of palatopharyngeus; it elevates and laterally deviates the soft palate; it also aids the tensor veli palatini in opening the auditory tube on swallowing to allow equalization of pressure between the middle ear and pharynx https://radiopaedia.org/articles/levator-veli-palatini reduced size of the paired cylindrical muscle that forms a V-shaped sling behind and above the soft palate; it originates from the apex of the inferior surface of the petrous temporal bone and the medial rim of the auditory tube, and inserts into the palatine aponeurosis between the two heads of palatopharyngeus; it elevates and laterally deviates the soft palate; it also aids the tensor veli palatini in opening the auditory tube on swallowing to allow equalization of pressure between the middle ear and pharynx 2017-10-18T09:31:31Z small levator muscle of the soft palate small levator muscle of the velum palatinum small levator veli small levator veli palatini MPheno.ontology small levator palati small musculus levator veli palatini MP:0030295 small levator veli palatini muscle MP:0030295 reduced size of the paired cylindrical muscle that forms a V-shaped sling behind and above the soft palate; it originates from the apex of the inferior surface of the petrous temporal bone and the medial rim of the auditory tube, and inserts into the palatine aponeurosis between the two heads of palatopharyngeus; it elevates and laterally deviates the soft palate; it also aids the tensor veli palatini in opening the auditory tube on swallowing to allow equalization of pressure between the middle ear and pharynx https://orcid.org/0000-0002-6490-7723 https://radiopaedia.org/articles/levator-veli-palatini any structural anomaly of either of a pair of external openings (foramina) in the maxillary bone of the skull located below the infraorbital margin of the orbit; it transmits the infraorbital artery and vein, and the infraorbital nerve, a branch of the maxillary nerve 2017-10-18T09:54:56Z abnormal foramen infraorbitale morphology abnormal infra-orbital foramen morphology abnormal infraorbital foramen of the maxilla morphology MPheno.ontology MP:0030296 abnormal infraorbital foramen morphology MP:0030296 any structural anomaly of either of a pair of external openings (foramina) in the maxillary bone of the skull located below the infraorbital margin of the orbit; it transmits the infraorbital artery and vein, and the infraorbital nerve, a branch of the maxillary nerve https://en.wikipedia.org/wiki/Infraorbital_foramen decrease in the number of normal cells in normal arrangement in the outer ear, typically resulting in decreased size 2017-10-18T10:03:23Z auricle hypoplasia auricular hypoplasia hypoplastic auricles hypoplastic ear pinnae hypoplastic external ear pinna hypoplasia MPheno.ontology MP:0030297 outer ear hypoplasia MP:0030297 decrease in the number of normal cells in normal arrangement in the outer ear, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 homeotic transformation of either jaw to adopt the fate of the other 2017-10-18T10:11:58Z transformed jaw homeotic jaw transformation MPheno.ontology MP:0030298 jaw transformation MP:0030298 homeotic transformation of either jaw to adopt the fate of the other https://orcid.org/0000-0002-6490-7723 homeotic transformation of lower jaw (mandibular) elements into upper jaw-like (maxillary) structures 2017-10-18T10:16:46Z conversion from a mandibular to a maxillary phenotype homeotic transformation of the ventral jaw to a dorsal identity MPheno.ontology MP:0030299 lower jaw to upper jaw transformation MP:0030299 homeotic transformation of lower jaw (mandibular) elements into upper jaw-like (maxillary) structures PMID:22560091 https://orcid.org/0000-0002-6490-7723 homeotic transformation of upper jaw (maxillary) elements into lower jaw-like (mandibular) structures 2017-10-18T10:20:47Z conversion from a maxillary to a mandibular phenotype homeotic transformation of the dorsal jaw to a ventral identity MPheno.ontology MP:0030300 upper jaw to lower jaw transformation MP:0030300 homeotic transformation of upper jaw (maxillary) elements into lower jaw-like (mandibular) structures PMID:25725491 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the upward extension from the body of the maxilla which articulates with the frontal bone; the frontal process has a vertical ridge which constitutes the medial border of the orbit (anterior lacrimal crest); posteriorly it forms the lacrimal groove together with the lacrimal bone; superomedially it is in close contact with the anterior ethmoidal sinuses 2017-10-18T10:34:30Z abnormal frontal process of the maxilla morphology abnormal maxilla frontal process morphology abnormal processus frontalis maxillae moprhology MPheno.ontology abnormal nasal process of the maxilla morphology MP:0030301 abnormal maxillary frontal process morphology MP:0030301 any structural anomaly of the upward extension from the body of the maxilla which articulates with the frontal bone; the frontal process has a vertical ridge which constitutes the medial border of the orbit (anterior lacrimal crest); posteriorly it forms the lacrimal groove together with the lacrimal bone; superomedially it is in close contact with the anterior ethmoidal sinuses http://www.medilexicon.com/dictionary/72273 https://www.kenhub.com/en/library/anatomy/the-maxilla any structural anomaly of the rough triangular eminence situated at the angle of separation of the anterior, zygomatic, and orbital surfaces; in front, it forms part of the anterior surface; behind, it is concave, and forms part of the infratemporal fossa; above, it is rough and serrated for articulation with the zygomatic bone; below, it presents the prominent arched border which marks the division between the anterior and infratemporal surfaces 2017-10-18T11:03:20Z abnormal malar process morphology abnormal malar process of the maxilla morphology abnormal maxilla zygomatic process morphology abnormal zygomatic process of the maxilla morphology MPheno.ontology MP:0030302 abnormal maxillary zygomatic process morphology MP:0030302 any structural anomaly of the rough triangular eminence situated at the angle of separation of the anterior, zygomatic, and orbital surfaces; in front, it forms part of the anterior surface; behind, it is concave, and forms part of the infratemporal fossa; above, it is rough and serrated for articulation with the zygomatic bone; below, it presents the prominent arched border which marks the division between the anterior and infratemporal surfaces https://en.wikipedia.org/wiki/Zygomatic_process_of_maxilla reduced size of the single midline facial bone that separates the nasal cavity from the brain, located at the roof of the nose between the two orbits 2017-10-23T06:43:09Z decreased ethmoid bone size decreased ethmoidal bone size reduced ethmoid bone size reduced ethmoidal bone size small ethmoidal bone MPheno.ontology MP:0030303 small ethmoid bone MP:0030303 reduced size of the single midline facial bone that separates the nasal cavity from the brain, located at the roof of the nose between the two orbits https://orcid.org/0000-0002-6490-7723 any structural anomaly of the sieve-like structure located between the anterior cranial fossa and the nasal cavity; it is a part of the ethmoid bone and supports the olfactory bulb, which lies in the olfactory fossa; it is perforated by foramina for the passage of the olfactory nerves and the anterior ethmoidal nerves to the upper part of the nasal septum, the latter of those to the superior nasal concha 2017-10-23T06:56:12Z abnormal cribriform plate of ethmoid bone morphology abnormal ethmoid bone cribriform plate morphology abnormal ethmoid bone lamina cribrosa morphology abnormal horizontal lamina of ethmoid bone morphology abnormal horizontal plate of ethmoid bone morphology abnormal lamina cribrosa ossis ethmoidalis morphology MPheno.ontology MP:0030304 abnormal cribriform plate morphology MP:0030304 any structural anomaly of the sieve-like structure located between the anterior cranial fossa and the nasal cavity; it is a part of the ethmoid bone and supports the olfactory bulb, which lies in the olfactory fossa; it is perforated by foramina for the passage of the olfactory nerves and the anterior ethmoidal nerves to the upper part of the nasal septum, the latter of those to the superior nasal concha https://orcid.org/0000-0002-6490-7723 https://radiopaedia.org/articles/cribriform-plate reduced size of the sieve-like structure located between the anterior cranial fossa and the nasal cavity; it is a part of the ethmoid bone and supports the olfactory bulb, which lies in the olfactory fossa 2017-10-23T07:10:37Z small ethmoid bone cribriform plate small ethmoid bone lamina cribrosa small horizontal lamina of ethmoid bone small horizontal plate of ethmoid bone small lamina cribrosa ossis ethmoidalis MPheno.ontology MP:0030305 small cribriform plate MP:0030305 reduced size of the sieve-like structure located between the anterior cranial fossa and the nasal cavity; it is a part of the ethmoid bone and supports the olfactory bulb, which lies in the olfactory fossa https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the three large depressions in the posterior, middle, and anterior aspects of the floor of the cranial cavity; each cranial fossa accommodates a different part of the brain 2017-10-23T09:32:03Z abnormal cranial fossae morphology MPheno.ontology MP:0030306 abnormal cranial fossa morphology MP:0030306 any structural anomaly of any of the three large depressions in the posterior, middle, and anterior aspects of the floor of the cranial cavity; each cranial fossa accommodates a different part of the brain https://www.merriam-webster.com/medical/cranial%20fossa any structural anomaly of the depression in the floor of the cranial base which houses the projecting frontal lobes of the brain; it is formed by the orbital plates of the frontal, the cribriform plate of the ethmoid, and the small wings and front part of the body of the sphenoid; it is limited behind by the posterior borders of the small wings of the sphenoid and by the anterior margin of the chiasmatic groove; the lesser wings of the sphenoid separate the anterior and middle fossae 2017-10-23T09:40:21Z abnormal anterior fossa morphology abnormal fossa cranii anterior morphology MPheno.ontology MP:0030307 abnormal anterior cranial fossa MP:0030307 any structural anomaly of the depression in the floor of the cranial base which houses the projecting frontal lobes of the brain; it is formed by the orbital plates of the frontal, the cribriform plate of the ethmoid, and the small wings and front part of the body of the sphenoid; it is limited behind by the posterior borders of the small wings of the sphenoid and by the anterior margin of the chiasmatic groove; the lesser wings of the sphenoid separate the anterior and middle fossae https://en.wikipedia.org/wiki/Anterior_cranial_fossa any structural anomaly of the butterfly-shaped depression which is centrally located in the cranial floor, narrow in the middle and wider laterally, and houses the temporal lobes of the cerebrum and the pituitary gland; it is separated from the posterior fossa by the clivus and the petrous crest; it is bounded: in front, by the posterior margins of the lesser wings of the sphenoid bone, the anterior clinoid processes, and the ridge forming the anterior margin of the chiasmatic groove; behind, by the superior angles of the petrous portions of the temporal bones and the dorsum sellae; laterally, by the temporal squamae, sphenoidal angles of the parietals, and greater wings of the sphenoid; it is traversed by the squamosal, sphenoparietal, sphenosquamosal, and sphenopetrosal sutures 2017-10-23T10:01:28Z abnormal middle fossa morphology abnormal fossa cranii media morphology MPheno.ontology MP:0030308 abnormal middle cranial fossa morphology MP:0030308 any structural anomaly of the butterfly-shaped depression which is centrally located in the cranial floor, narrow in the middle and wider laterally, and houses the temporal lobes of the cerebrum and the pituitary gland; it is separated from the posterior fossa by the clivus and the petrous crest; it is bounded: in front, by the posterior margins of the lesser wings of the sphenoid bone, the anterior clinoid processes, and the ridge forming the anterior margin of the chiasmatic groove; behind, by the superior angles of the petrous portions of the temporal bones and the dorsum sellae; laterally, by the temporal squamae, sphenoidal angles of the parietals, and greater wings of the sphenoid; it is traversed by the squamosal, sphenoparietal, sphenosquamosal, and sphenopetrosal sutures http://teachmeanatomy.info/head/areas/cranial-fossa/middle/ https://en.wikipedia.org/wiki/Middle_cranial_fossa https://radiopaedia.org/articles/middle-cranial-fossa any structural anomaly of the most inferior and deepest of the cranial fossae, located between the foramen magnum and tentorium cerebelli, which houses the brainstem and cerebellum; it is bounded anteriorly and medially by the dorsum sellae of the sphenoid bone; anteriorly and laterally by the superior border of the petrous part of the temporal bone; and posteriorly by the internal surface of the squamous part of the occipital bone; its floor consists of the mastoid part of the temporal bone and the squamous, condylar and basilar parts of the occipital bone 2017-10-23T10:11:35Z abnormal posterior fossa morphology abnormal fossa cranii posterior morphology MPheno.ontology MP:0030309 abnormal posterior cranial fossa morphology MP:0030309 any structural anomaly of the most inferior and deepest of the cranial fossae, located between the foramen magnum and tentorium cerebelli, which houses the brainstem and cerebellum; it is bounded anteriorly and medially by the dorsum sellae of the sphenoid bone; anteriorly and laterally by the superior border of the petrous part of the temporal bone; and posteriorly by the internal surface of the squamous part of the occipital bone; its floor consists of the mastoid part of the temporal bone and the squamous, condylar and basilar parts of the occipital bone http://teachmeanatomy.info/head/areas/cranial-fossa/posterior/ https://radiopaedia.org/articles/posterior-cranial-fossa any structural anomaly of any of the openings or orifices (foramina) in the skull through which cranial nerves, arteries, veins and other structures pass into and out of the cranium 2017-10-23T10:34:02Z abnormal foramina of the skull abnormal cranial foramina morphology abnormal skull foramen morphology abnormal skull foramina morphology MPheno.ontology MP:0030310 abnormal cranial foramen morphology MP:0030310 any structural anomaly of any of the openings or orifices (foramina) in the skull through which cranial nerves, arteries, veins and other structures pass into and out of the cranium https://en.wikipedia.org/wiki/List_of_foramina_of_the_human_body https://radiopaedia.org/articles/cranial-foramina any structural anomaly of the depression in the temporal bone that articulates with the mandible; it is a part of the temporomandibular joint and lodges the condyle of the mandible; in the temporal bone, the mandibular fossa is bounded anteriorly by the articular tubercle and posteriorly by the tympanic portion of the temporal bone, which separates it from the external acoustic meatus; the fossa is divided into two parts by a narrow slit, the petrotympanic fissure 2017-10-23T11:42:32Z MPheno.ontology MP:0030311 abnormal mandibular fossa morphology MP:0030311 any structural anomaly of the depression in the temporal bone that articulates with the mandible; it is a part of the temporomandibular joint and lodges the condyle of the mandible; in the temporal bone, the mandibular fossa is bounded anteriorly by the articular tubercle and posteriorly by the tympanic portion of the temporal bone, which separates it from the external acoustic meatus; the fossa is divided into two parts by a narrow slit, the petrotympanic fissure https://en.wikipedia.org/wiki/Mandibular_fossa https://radiopaedia.org/articles/mandibular-fossa increased size of one or more of the transient structures of the embryo that develop into regions of the head, neck and ears 2017-10-25T07:45:08Z enlarged branchial arch increased branchial arch size increased pharyngeal arch size MPheno.ontology MP:0030312 enlarged pharyngeal arch MP:0030312 increased size of one or more of the transient structures of the embryo that develop into regions of the head, neck and ears https://orcid.org/0000-0002-6490-7723 any anomaly in the process in which the anatomical structures of the face are generated and organized 2017-10-25T08:00:46Z abnormal facial development MPheno.ontology MP:0030313 abnormal face development MP:0030313 any anomaly in the process in which the anatomical structures of the face are generated and organized GO:0060325 missing the initial portion of the palate formed from the intermaxillary segment 2017-10-25T10:29:32Z absent primitive palate MPheno.ontology MP:0030314 absent primary palate MP:0030314 missing the initial portion of the palate formed from the intermaxillary segment UBERON:0005620 https://orcid.org/0000-0002-6490-7723 decreased size of the bones of the skull enclosing the brain 2017-10-25T10:44:18Z decreased neurocranium size reduced neurocranium size small calvaria small calvarium small cranial vault MPheno.ontology MP:0030315 small neurocranium MP:0030315 decreased size of the bones of the skull enclosing the brain https://orcid.org/0000-0002-6490-7723 increased size of the bones of the skull enclosing the brain 2017-10-25T11:14:56Z enlarged calvaria enlarged calvarium enlarged cranial vault increased neurocranium size large calvaria large calvarium large cranial vault MPheno.ontology MP:0030316 enlarged neurocranium MP:0030316 increased size of the bones of the skull enclosing the brain https://orcid.org/0000-0002-6490-7723 absence of the rough triangular eminence situated at the angle of separation of the anterior, zygomatic, and orbital surfaces; in front, it forms part of the anterior surface; behind, it is concave, and forms part of the infratemporal fossa; above, it is rough and serrated for articulation with the zygomatic bone; below, it presents the prominent arched border which marks the division between the anterior and infratemporal surfaces 2017-10-25T12:04:45Z absent malar process absent maxilla zygomatic process absent processus zygomaticus maxillae absent zygomatic process of the maxilla MPheno.ontology MP:0030317 absent maxillary zygomatic process MP:0030317 absence of the rough triangular eminence situated at the angle of separation of the anterior, zygomatic, and orbital surfaces; in front, it forms part of the anterior surface; behind, it is concave, and forms part of the infratemporal fossa; above, it is rough and serrated for articulation with the zygomatic bone; below, it presents the prominent arched border which marks the division between the anterior and infratemporal surfaces https://en.wikipedia.org/wiki/Zygomatic_process_of_maxilla https://orcid.org/0000-0002-6490-7723 increased size of the rough triangular eminence situated at the angle of separation of the anterior, zygomatic, and orbital surfaces; in front, it forms part of the anterior surface; behind, it is concave, and forms part of the infratemporal fossa; above, it is rough and serrated for articulation with the zygomatic bone; below, it presents the prominent arched border which marks the division between the anterior and infratemporal surfaces 2017-10-25T12:08:38Z enlarged malar process enlarged maxilla zygomatic process enlarged processus zygomaticus maxillae enlarged zygomatic process of the maxilla MPheno.ontology MP:0030318 enlarged maxillary zygomatic process MP:0030318 increased size of the rough triangular eminence situated at the angle of separation of the anterior, zygomatic, and orbital surfaces; in front, it forms part of the anterior surface; behind, it is concave, and forms part of the infratemporal fossa; above, it is rough and serrated for articulation with the zygomatic bone; below, it presents the prominent arched border which marks the division between the anterior and infratemporal surfaces https://orcid.org/0000-0002-6490-7723 any structural anomaly of the dense, pyramid-shaped portion of the temporal bone that is wedged in at the base of the skull between the sphenoid and occipital bones; directed medially, forward, and a little upward, it presents a base, an apex, three surfaces, and three angles, and houses in its interior, the components of the inner ear; the petrous portion is among the most basal elements of the skull and forms part of the endocranium 2017-10-25T12:19:58Z abnormal pars petrosa (os temporale) morphology abnormal pars petrosa ossis temporalis morphology abnormal petrosal bone morphology abnormal petrous bone morphology abnormal petrous temporal bone morphology MPheno.ontology MP:0030319 abnormal temporal bone petrous part morphology MP:0030319 any structural anomaly of the dense, pyramid-shaped portion of the temporal bone that is wedged in at the base of the skull between the sphenoid and occipital bones; directed medially, forward, and a little upward, it presents a base, an apex, three surfaces, and three angles, and houses in its interior, the components of the inner ear; the petrous portion is among the most basal elements of the skull and forms part of the endocranium https://en.wikipedia.org/wiki/Petrous_part_of_the_temporal_bone any structural anomaly of the curved plate of bone that is situated inferiorly to the squamous part and anteriorly to the mastoid part of the temporal bone; it surrounds the external auditory meatus, forming the anterior wall, floor and some of the posterior wall of the bony external acoustic meatus; its lateral border gives the attachment to the cartilaginous part of the external acoustic meatus; its anteroinferior surface forms the posterior boundary of the mandibular fossa 2017-10-25T12:49:24Z abnormal pars tympanica (os temporale) morphology abnormal pars tympanica ossis temporalis morphology abnormal tympanic bone morphology abnormal tympanic plate morphology MPheno.ontology MP:0030320 abnormal temporal bone tympanic part morphology MP:0030320 any structural anomaly of the curved plate of bone that is situated inferiorly to the squamous part and anteriorly to the mastoid part of the temporal bone; it surrounds the external auditory meatus, forming the anterior wall, floor and some of the posterior wall of the bony external acoustic meatus; its lateral border gives the attachment to the cartilaginous part of the external acoustic meatus; its anteroinferior surface forms the posterior boundary of the mandibular fossa https://en.wikipedia.org/wiki/Tympanic_part_of_the_temporal_bone https://radiopaedia.org/articles/tympanic-part-of-temporal-bone any structural anomaly of the thin plate of bone which separates the middle ear (tympanic) cavity from the dura of the middle cranial fossa and forms the roof of the middle ear cavity; it is formed in part by the petrous portion of the temporal bone, and the squamous portion of the temporal bone 2017-10-25T13:17:15Z MPheno.ontology MP:0030321 abnormal tegmen tympani morphology MP:0030321 any structural anomaly of the thin plate of bone which separates the middle ear (tympanic) cavity from the dura of the middle cranial fossa and forms the roof of the middle ear cavity; it is formed in part by the petrous portion of the temporal bone, and the squamous portion of the temporal bone http://www.drtbalu.com/anat_middleear.html https://medical-dictionary.thefreedictionary.com/tegmen+tympani decrease in the number of normal cells in normal arrangement in the styliod process, typically resulting in decreased size 2017-10-25T13:28:06Z hypoplastic processus styloideus hypoplastic styloid process hypoplastic temporal bone styloid process hypoplastic temporal styloid process MPheno.ontology MP:0030322 styloid process hypoplasia MP:0030322 decrease in the number of normal cells in normal arrangement in the styliod process, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 length reduction or truncation of the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments 2017-10-25T13:35:14Z short processus styloideus short temporal bone styloid process short temporal styloid process shortened styloid process truncated styloid process MPheno.ontology MP:0030323 short styloid process MP:0030323 length reduction or truncation of the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments https://orcid.org/0000-0002-6490-7723 any anomaly in the process in which the anatomical structures of the anterior part of the head are generated and organized 2017-10-27T08:11:36Z MPheno.ontology MP:0030324 abnormal anterior head development MP:0030324 any anomaly in the process in which the anatomical structures of the anterior part of the head are generated and organized GO:0097065 https://orcid.org/0000-0002-6490-7723 change in the timing or the number of cells of the periocular mesenchyme undergoing programmed cell death 2017-10-27T08:32:35Z MPheno.ontology MP:0030325 abnormal periocular mesenchyme apoptosis MP:0030325 change in the timing or the number of cells of the periocular mesenchyme undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 reduction in the number of cells of the periocular mesenchyme undergoing programmed cell death 2017-10-27T08:39:07Z reduced periocular mesenchyme apoptosis MPheno.ontology MP:0030326 decreased periocular mesenchyme apoptosis MP:0030326 reduction in the number of cells of the periocular mesenchyme undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 fusion or adherence of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening; true ankylosis may be bony or fibrous; in bony ankylosis, the condyle or ramus is attached to the temporal or zygomatic bone by an osseous bridge; in fibrous ankylosis a soft tissue (fibrous) union of joint components occurs while the bone components appear normal 2017-10-27T09:09:12Z TMJ ankylosis fusion of the jaw joint temporomandibular joint fusion MPheno.ontology MP:0030327 temporomandibular joint ankylosis MP:0030327 fusion or adherence of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening; true ankylosis may be bony or fibrous; in bony ankylosis, the condyle or ramus is attached to the temporal or zygomatic bone by an osseous bridge; in fibrous ankylosis a soft tissue (fibrous) union of joint components occurs while the bone components appear normal HP:0012478 http://www.journalofdentofacialsciences.com/journal/vol2_issue4/Article9_Manojmeena.pdf presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge 2017-10-27T11:06:10Z ankyloglossia superior glossopalatal fusion glossopalatine ankylosis glossopalatine fusion palatoglossal adhesion palatoglossal fusion MPheno.ontology MP:0030328 glossopalatal ankylosis MP:0030328 presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge PMID:23997492 http://www.tandfonline.com/doi/pdf/10.1080/22201181.2014.979629 absence of the dense, pyramid-shaped portion of the temporal bone that is wedged in at the base of the skull between the sphenoid and occipital bones; directed medially, forward, and a little upward, it presents a base, an apex, three surfaces, and three angles, and houses in its interior, the components of the inner ear; the petrous portion is among the most basal elements of the skull and forms part of the endocranium 2017-10-27T11:16:16Z absent pars petrosa (os temporale) absent pars petrosa ossis temporalis absent petrosal bone absent petrous bone absent petrous temporal bone MPheno.ontology MP:0030329 absent temporal bone petrous part MP:0030329 absence of the dense, pyramid-shaped portion of the temporal bone that is wedged in at the base of the skull between the sphenoid and occipital bones; directed medially, forward, and a little upward, it presents a base, an apex, three surfaces, and three angles, and houses in its interior, the components of the inner ear; the petrous portion is among the most basal elements of the skull and forms part of the endocranium https://orcid.org/0000-0002-6490-7723 any structural anomaly of the oval, biconcave, avascular fibrocartilaginous structure located between the condyle of the mandible and the mandibular (glenoid) fossa of the temporal bone; the disk provides the gliding surface for the mandibular condyle, resulting in smooth joint movement; it splits the temporomandibular joint into two synovial joint cavities, each lined by a synovial membrane, and separates translational and rotational motion 2017-10-27T11:45:36Z abnormal TMJ disc morphology abnormal TMJ disk morphology abnormal articular disk of temporomandibular joint morphology abnormal temporomandibular articular disc morphology abnormal temporomandibular articular disk morphology abnormal temporomandibular joint disc morphology abnormal temporomandibular joint meniscus morphology MPheno.ontology MP:0030330 abnormal temporomandibular joint disk morphology MP:0030330 any structural anomaly of the oval, biconcave, avascular fibrocartilaginous structure located between the condyle of the mandible and the mandibular (glenoid) fossa of the temporal bone; the disk provides the gliding surface for the mandibular condyle, resulting in smooth joint movement; it splits the temporomandibular joint into two synovial joint cavities, each lined by a synovial membrane, and separates translational and rotational motion http://teachmeanatomy.info/head/joints/temporomandibular/ https://radiopaedia.org/articles/temporomandibular-joint-disc https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147437/ missing the oval, biconcave, avascular fibrocartilaginous structure located between the condyle of the mandible and the mandibular (glenoid) fossa of the temporal bone; the disk provides the gliding surface for the mandibular condyle, resulting in smooth joint movement; it splits the temporomandibular joint into two synovial joint cavities, each lined by a synovial membrane, and separates translational and rotational motion 2017-10-27T11:56:06Z absent TMJ disc absent TMJ disk absent articular disc of temporomandibular joint absent articular disk of temporomandibular joint absent temporomandibular articular disc absent temporomandibular articular disk absent temporomandibular joint disc absent temporomandibular joint meniscus MPheno.ontology MP:0030331 absent temporomandibular joint disk MP:0030331 missing the oval, biconcave, avascular fibrocartilaginous structure located between the condyle of the mandible and the mandibular (glenoid) fossa of the temporal bone; the disk provides the gliding surface for the mandibular condyle, resulting in smooth joint movement; it splits the temporomandibular joint into two synovial joint cavities, each lined by a synovial membrane, and separates translational and rotational motion https://orcid.org/0000-0002-6490-7723 earlier onset or more rapid progression of a degenerative condition of the temporomandibular joint that results from breakdown of joint cartilage and underlying bone; erosive lesions and joint space narrowing usually indicate acute or early changes, whereas sclerosis, flattening, subchondral cysts, and osteophytes may indicate late changes 2017-10-27T12:12:21Z accelerated TMJ osteoarthritis early onset of temporomandibular joint osteoarthritis precocious temporomandibular joint osteoarthritis premature temporomandibular joint osteoarthritis MPheno.ontology MP:0030332 accelerated temporomandibular joint osteoarthritis MP:0030332 earlier onset or more rapid progression of a degenerative condition of the temporomandibular joint that results from breakdown of joint cartilage and underlying bone; erosive lesions and joint space narrowing usually indicate acute or early changes, whereas sclerosis, flattening, subchondral cysts, and osteophytes may indicate late changes http://www.sciencedirect.com/science/article/pii/S2319417016301536 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the part of the palatine bone that extends vertically upward from the horizontal lamina; it forms part of the lateral wall of the nasal cavity 2017-10-30T12:14:49Z abnormal lamina perpendicularis ossis palatini morphology abnormal palatine bone vertical plate morphology MPheno.ontology MP:0030333 abnormal palatine bone perpendicular plate morphology MP:0030333 any structural anomaly of the part of the palatine bone that extends vertically upward from the horizontal lamina; it forms part of the lateral wall of the nasal cavity https://medical-dictionary.thefreedictionary.com/perpendicular+plate+of+palatine+bone failure to develop or absence of the sixth pharyngeal arch artery 2017-10-30T12:24:16Z absent sixth PAA absent sixth aortic arch artery absent sixth branchial arch artery sixth pharyngeal arch artery agenesis sixth pharyngeal arch artery aplasia MPheno.ontology MP:0030334 absent sixth pharyngeal arch artery MP:0030334 failure to develop or absence of the sixth pharyngeal arch artery https://orcid.org/0000-0002-6490-7723 failure to develop or absence of the third pharyngeal arch artery 2017-10-30T12:36:18Z absent third PAA absent third aortic arch artery absent third branchial arch artery third pharyngeal arch artery agenesis third pharyngeal arch artery aplasia MPheno.ontology MP:0030335 absent third pharyngeal arch artery MP:0030335 failure to develop or absence of the third pharyngeal arch artery https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the third pharyngeal arch artery, typically resulting in decreased size 2017-10-30T12:40:54Z hypoplastic third PAA hypoplastic third aortic arch artery hypoplastic third branchial arch artery hypoplastic third pharyngeal arch artery MPheno.ontology MP:0030336 third pharyngeal arch artery hypoplasia MP:0030336 decrease in the number of normal cells in normal arrangement in the third pharyngeal arch artery, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increased size of the third pharyngeal arch artery 2017-10-30T12:45:31Z abnormally large third pharyngeal arch artery enlarged third PAA enlarged third aortic arch artery enlarged third branchial arch artery MPheno.ontology MP:0030337 enlarged third pharyngeal arch artery MP:0030337 increased size of the third pharyngeal arch artery https://orcid.org/0000-0002-6490-7723 stretched or widened aperture of the luminal space of the third pharyngeal arch artery 2017-10-30T12:49:47Z 3rd PAA dilation 3rd pharyngeal arch artery dilation dilated third PAA dilated third aortic arch artery dilated third branchial arch artery dilation of the 3rd pharyngeal arch artery third PAA dilation third aortic arch artery dilation third branchial arch artery dilation third pharyngeal arch artery dilation MPheno.ontology MP:0030338 dilated third pharyngeal arch artery MP:0030338 stretched or widened aperture of the luminal space of the third pharyngeal arch artery https://orcid.org/0000-0002-6490-7723 failure to develop or absence of the second pharyngeal arch artery 2017-10-30T13:03:11Z absent second PAA absent second aortic arch artery absent second branchial arch artery second pharyngeal arch artery agenesis second pharyngeal arch artery aplasia MPheno.ontology MP:0030339 absent second pharyngeal arch artery MP:0030339 failure to develop or absence of the second pharyngeal arch artery https://orcid.org/0000-0002-6490-7723 failure to develop or absence of the fourth pharyngeal arch artery 2017-10-30T13:29:50Z absent fourth PAA absent fourth aortic arch artery absent fourth branchial arch artery fourth pharyngeal arch artery agenesis fourth pharyngeal arch artery aplasia MPheno.ontology MP:0030340 absent fourth pharyngeal arch artery MP:0030340 failure to develop or absence of the fourth pharyngeal arch artery https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the fourth pharyngeal arch artery, typically resulting in decreased size 2017-10-30T13:33:57Z hypoplastic fourth PAA hypoplastic fourth aortic arch artery hypoplastic fourth branchial arch artery hypoplastic fourth pharyngeal arch artery MPheno.ontology MP:0030341 fourth pharyngeal arch artery hypoplasia MP:0030341 decrease in the number of normal cells in normal arrangement in the fourth pharyngeal arch artery, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 reduced size of the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw 2017-11-01T07:40:00Z decreased maxillary prominence size reduced maxillary prominence size small embryonic maxillary process small maxillary process MPheno.ontology MP:0030342 small maxillary prominence MP:0030342 reduced size of the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the maxillary prominence, typically resulting in decreased size 2017-11-01T07:45:45Z hypoplastic embryonic maxillary process hypoplastic maxillary process hypoplastic maxillary prominence MPheno.ontology MP:0030343 maxillary prominence hypoplasia MP:0030343 decrease in the number of normal cells in normal arrangement in the maxillary prominence, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 absence of the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw 2017-11-01T07:49:36Z absent embryonic maxillary process absent maxillary process MPheno.ontology MP:0030344 absent maxillary prominence MP:0030344 absence of the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw https://orcid.org/0000-0002-6490-7723 increased size of the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw 2017-11-01T07:52:52Z enlarged embryonic maxillary process enlarged maxillary process increased maxillary prominence size MPheno.ontology MP:0030345 enlarged maxillary prominence MP:0030345 increased size of the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw https://orcid.org/0000-0002-6490-7723 reduced size of the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip 2017-11-01T07:59:27Z decreased mandibular prominence size reduced mandibular prominence size small mandibular process MPheno.ontology MP:0030346 small mandibular prominence MP:0030346 reduced size of the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the mandibular prominence, typically resulting in decreased size 2017-11-01T08:03:04Z hypoplastic mandibular process hypoplastic mandibular prominence mandibular process hypoplasia MPheno.ontology MP:0030347 mandibular prominence hypoplasia MP:0030347 decrease in the number of normal cells in normal arrangement in the mandibular prominence, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increased size of the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip 2017-11-01T08:07:21Z enlarged mandibular process increased mandibular process size increased mandibular prominence size MPheno.ontology MP:0030348 enlarged mandibular prominence MP:0030348 increased size of the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip https://orcid.org/0000-0002-6490-7723 failure to form the dense, fibrous connective tissue joint between the parietal bones and the frontal bone 2017-11-01T09:48:27Z absent frontoparietal suture MPheno.ontology MP:0030349 absent coronal suture MP:0030349 failure to form the dense, fibrous connective tissue joint between the parietal bones and the frontal bone https://orcid.org/0000-0002-6490-7723 early closure of the coronal suture of the skull 2017-11-01T11:25:26Z coronal craniosynostosis coronal suture craniosynostosis coronal suture synostosis early fusion of coronal sutures frontoparietal craniosynostosis frontoparietal suture craniosynostosis frontoparietal suture synostosis MPheno.ontology MP:0030350 premature coronal suture closure MP:0030350 early closure of the coronal suture of the skull https://orcid.org/0000-0002-6490-7723 an abnormally increased width of the coronal suture for age-related norms 2017-11-01T11:44:04Z broad coronal suture broadened coronal suture large coronal suture wide frontoparietal suture wide spaced coronal suture widened coronal suture MPheno.ontology MP:0030351 wide coronal suture MP:0030351 an abnormally increased width of the coronal suture for age-related norms https://orcid.org/0000-0002-6490-7723 failure to form the dense, fibrous connective tissue joint between the two parietal bones of the skull 2017-11-01T12:02:51Z absent interparietal suture absent longitudinal suture absent parietal suture MPheno.ontology MP:0030352 absent sagittal suture MP:0030352 failure to form the dense, fibrous connective tissue joint between the two parietal bones of the skull https://orcid.org/0000-0002-6490-7723 an abnormally increased width of the sagittal suture for age-related norms 2017-11-01T12:07:59Z broad sagittal l suture large sagittal suture wide interparietal suture wide longitudinal suture wide parietal suture wide spaced sagittal suture widened sagittal suture MPheno.ontology MP:0030353 wide sagittal suture MP:0030353 an abnormally increased width of the sagittal suture for age-related norms https://orcid.org/0000-0002-6490-7723 early closure of the sagittal suture of the skull; premature closure of this suture results in a long, narrow, and boat-shaped skull (scaphocephaly) 2017-11-01T12:20:00Z early fusion of sagittal sutures interparietal suture synostosis longitudinal suture synostosis parietal suture synostosis sagittal craniosynostosis sagittal suture craniosynostosis sagittal suture synostosis sagittal synostosis MPheno.ontology MP:0030354 premature sagittal suture closure MP:0030354 early closure of the sagittal suture of the skull; premature closure of this suture results in a long, narrow, and boat-shaped skull (scaphocephaly) https://radiopaedia.org/articles/craniosynostosis failure to form the dense, fibrous connective tissue joint between the superior border of the occipital bone and the posterior borders of the right and left parietal bones 2017-11-01T13:04:52Z absent lambdoidal suture absent occipital suture absent occipitoparietal suture MPheno.ontology MP:0030355 absent lambdoid suture MP:0030355 failure to form the dense, fibrous connective tissue joint between the superior border of the occipital bone and the posterior borders of the right and left parietal bones https://orcid.org/0000-0002-6490-7723 early closure of the lambdoid suture of the skull 2017-11-01T13:12:08Z early fusion of lambdoid sutures lambdoid craniosynostosis lambdoid suture craniosynostosis lambdoid suture synostosis lambdoid synostosis lambdoidal craniosynostosis lambdoidal suture craniosynostosis lambdoidal suture synostosis lambdoidal synostosis MPheno.ontology MP:0030356 premature lambdoid suture closure MP:0030356 early closure of the lambdoid suture of the skull https://orcid.org/0000-0002-6490-7723 an abnormally increased width of the lambdoid suture for age-related norms 2017-11-01T13:19:38Z broad lambdoid suture broadened lambdoid suture large lambdoid suture wide lambdoidal suture wide spaced lambdoid suture widened lambdoid suture MPheno.ontology MP:0030357 wide lambdoid suture MP:0030357 an abnormally increased width of the lambdoid suture for age-related norms https://orcid.org/0000-0002-6490-7723 early closure of the squamoparietal suture of the skull 2017-11-01T13:42:26Z early fusion of squamoparietal sutures early fusion of squamosal sutures early fusion of squamous sutures squamoparietal craniosynostosis squamoparietal suture craniosynostosis squamoparietal suture synostosis squamoparietal synostosis squamosal craniosynostosis squamosal suture craniosynostosis squamosal suture synostosis squamosal synostosis MPheno.ontology MP:0030358 premature squamoparietal suture closure MP:0030358 early closure of the squamoparietal suture of the skull https://orcid.org/0000-0002-6490-7723 an increased density in one or more cranial sutures following obliteration 2017-11-06T10:56:20Z sclerotic cranial sutures MPheno.ontology perisutural sclerosis MP:0030359 cranial suture sclerosis MP:0030359 an increased density in one or more cranial sutures following obliteration HP:0005441 https://books.google.com/books?isbn=1447134923 an increased density in the coronal suture following obliteration 2017-11-06T11:09:37Z sclerotic coronal sutures sclerotic frontoparietal sutures MPheno.ontology MP:0030360 coronal suture sclerosis MP:0030360 an increased density in the coronal suture following obliteration https://orcid.org/0000-0002-6490-7723 an increased density in the lambdoid suture following obliteration 2017-11-06T11:15:47Z lambdoidal suture sclerosis sclerotic lambdoid sutures sclerotic lambdoidal sutures MPheno.ontology MP:0030361 lambdoid suture sclerosis MP:0030361 an increased density in the lambdoid suture following obliteration https://orcid.org/0000-0002-6490-7723 an increased density in the sagittal suture following obliteration 2017-11-06T11:22:03Z sclerotic interparietal sutures sclerotic longitudinal sutures sclerotic parietal sutures sclerotic sagittal sutures MPheno.ontology MP:0030362 sagittal suture sclerosis MP:0030362 an increased density in the sagittal suture following obliteration https://orcid.org/0000-0002-6490-7723 any structural anomaly of the diamond-shaped membranous interval between the two frontal and two parietal bones of the developing fetal skull; it is the largest fontanelle, located at the bregma, at the junction of the coronal, sagittal and metopic (frontal) sutures of the cranium 2017-11-06T11:31:04Z abnormal anterior fontanel morphology abnormal bregmatic fontanel morphology abnormal bregmatic fontanelle morphology abnormal frontal fontanel morphology abnormal frontal fontanelle morphology MPheno.ontology MP:0030363 abnormal anterior fontanelle morphology MP:0030363 any structural anomaly of the diamond-shaped membranous interval between the two frontal and two parietal bones of the developing fetal skull; it is the largest fontanelle, located at the bregma, at the junction of the coronal, sagittal and metopic (frontal) sutures of the cranium https://en.wikipedia.org/wiki/Fontanelle any structural anomaly of the triangle-shaped membranous interval between the pair of parietal bones and the occipital bone; it is located at the lambda, at the junction between the sagittal suture and the lambdoid suture 2017-11-06T11:52:06Z abnormal lambdoid fontanel morphology abnormal lambdoid fontanelle morphology abnormal occipital fontanel morphology abnormal occipital fontanelle morphology abnormal posterior fontanel morphology MPheno.ontology MP:0030364 abnormal posterior fontanelle morphology MP:0030364 any structural anomaly of the triangle-shaped membranous interval between the pair of parietal bones and the occipital bone; it is located at the lambda, at the junction between the sagittal suture and the lambdoid suture https://en.wikipedia.org/wiki/Posterior_fontanelle any structural anomaly of the small membranous interval located on the side of the skull, at the site of apposition of the frontal, parietal, and squamous part of the temporal bone and sphenoid bone 2017-11-06T12:13:02Z abnormal anterolateral fontanel morphology abnormal anterolateral fontanelle morphology abnormal sphenoid fontanel morphology abnormal sphenoidal fontanel morphology abnormal sphenoidal fontanelle morphology MPheno.ontology MP:0030365 abnormal sphenoid fontanelle morphology MP:0030365 any structural anomaly of the small membranous interval located on the side of the skull, at the site of apposition of the frontal, parietal, and squamous part of the temporal bone and sphenoid bone http://www.anatomyexpert.com/app/structure/1622/1122/ https://books.google.com/books?isbn=0124020607 any structural anomaly of the small membranous interval between the posterolateral angle of the parietal bone and the mastoid regions of the temporal and occipital bones in the developing skull 2017-11-06T12:30:55Z abnormal mastoid fontanel morphology abnormal posterolateral fontanel morphology abnormal posterolateral fontanelle morphology MPheno.ontology MP:0030366 abnormal mastoid fontanelle morphology MP:0030366 any structural anomaly of the small membranous interval between the posterolateral angle of the parietal bone and the mastoid regions of the temporal and occipital bones in the developing skull http://www.anatomyexpert.com/app/structure/1632/1122/ early closure of the metopic suture of the skull; premature closure of this suture compromises the transverse growth of both the frontal bones and can cause a narrow, triangular shaped forehead (trigonocephaly) that is associated with orbital hypotelorism 2017-11-08T10:55:47Z early fusion of frontal sutures early fusion of interfrontal sutures early fusion of median frontal sutures early fusion of metopic sutures metopic craniosynostosis metopic suture craniosynostosis metopic suture synostosis metopic synostosis premature frontal suture closure premature interfrontal suture closure premature mediofrontal suture closure MPheno.ontology MP:0030367 In mice and rats, the posterior frontal suture (analogous to the human metopic suture) is the only cranial suture that fuses naturally during the first month of life; fusion proceeds in a defined temporal sequence from an anterior to posterior direction, while all other cranial sutures remain patent throughout the life of the animal premature metopic suture closure MP:0030367 early closure of the metopic suture of the skull; premature closure of this suture compromises the transverse growth of both the frontal bones and can cause a narrow, triangular shaped forehead (trigonocephaly) that is associated with orbital hypotelorism PMID:23960302 http://www.skullbaseinstitute.com/craniosynostosis-craniofacial/trigonocephaly.html In mice and rats, the posterior frontal suture (analogous to the human metopic suture) is the only cranial suture that fuses naturally during the first month of life; fusion proceeds in a defined temporal sequence from an anterior to posterior direction, while all other cranial sutures remain patent throughout the life of the animal PMID:15790973 PMID:23300083 PMID:8911474 presence of a wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput; trigonocephaly can be caused by premature fusion of the metopic suture 2017-11-08T11:36:27Z triangular head shape wedge shaped head triangular cranium shape triangular skull shape wedge shaped cranium wedge shaped skull MPheno.ontology triangular shaped forehead MP:0030368 trigonocephaly MP:0030368 presence of a wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput; trigonocephaly can be caused by premature fusion of the metopic suture HP:0000243 http://www.skullbaseinstitute.com/craniosynostosis-craniofacial/trigonocephaly.html any structural anomaly of the bony ridge that, in rodents, runs paracoronally and divides the metopic (interfrontal) suture transversely into the anterior and posterior frontal sutures; it is a landmark between the posterior and anterior frontal sutures 2017-11-08T12:39:03Z abnormal jugum limitans olfacoriae morphology MPheno.ontology MP:0030369 abnormal jugum limitans morphology MP:0030369 any structural anomaly of the bony ridge that, in rodents, runs paracoronally and divides the metopic (interfrontal) suture transversely into the anterior and posterior frontal sutures; it is a landmark between the posterior and anterior frontal sutures PMID:15882577 http://onlinelibrary.wiley.com/doi/10.1359/jbmr.1997.12.3.311/full https://helda.helsinki.fi/bitstream/handle/10138/20292/molecula.pdf?sequence=1 missing the bony ridge that, in rodents, runs paracoronally and divides the metopic (interfrontal) suture transversely into the anterior and posterior frontal sutures 2017-11-08T12:44:21Z absent jugum limitans olfacoriae MPheno.ontology MP:0030370 absent jugum limitans MP:0030370 missing the bony ridge that, in rodents, runs paracoronally and divides the metopic (interfrontal) suture transversely into the anterior and posterior frontal sutures PMID:15790973 https://orcid.org/0000-0002-6490-7723 late onset of fusion of the sagittal suture of the skull 2017-11-08T13:08:39Z delayed fusion of sagittal sutures late-closing sagittal sutures MPheno.ontology MP:0030371 delayed sagittal suture closure MP:0030371 late onset of fusion of the sagittal suture of the skull https://orcid.org/0000-0002-6490-7723 increased size of the cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible and gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments 2017-11-08T13:33:01Z enlarged Meckel cartilage enlarged mandibular cartilage increased Meckel cartilage size increased Meckel's cartilage size increased mandibular cartilage size MPheno.ontology MP:0030372 enlarged Meckel's cartilage MP:0030372 increased size of the cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible and gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the Meckel's cartilage, typically resulting in increased size 2017-11-08T13:55:38Z Meckel cartilage hyperplasia hyperplastic Meckel cartilage hyperplastic Meckel's cartilage hyperplastic mandibular cartilage mandibular cartilage hyperplasia MPheno.ontology MP:0030373 Meckel's cartilage hyperplasia MP:0030373 increase in the number of normal cells in normal arrangement in the Meckel's cartilage, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the Meckel's cartilage, typically resulting in decreased size 2017-11-08T14:12:32Z Meckel cartilage hypoplasia hypoplastic Meckel cartilage hypoplastic Meckel's cartilage hypoplastic mandibular cartilage mandibular cartilage hypoplasia MPheno.ontology MP:0030374 Meckel's cartilage hypoplasia MP:0030374 decrease in the number of normal cells in normal arrangement in the Meckel's cartilage, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 decreased length of the bony arch that, in vertebrates, extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone 2017-11-10T11:35:27Z decreased zygomatic arch length reduced zygomatic arch length short malar arch short zygoma shortened zygomatic arch MPheno.ontology MP:0030375 short zygomatic arch MP:0030375 decreased length of the bony arch that, in vertebrates, extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone https://orcid.org/0000-0002-6490-7723 increased thickness of the bony arch that, in vertebrates, extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone 2017-11-10T11:44:09Z increased zygomatic arch thickness thick malar arch thick zygoma thickened zygomatic arch MPheno.ontology MP:0030376 thick zygomatic arch MP:0030376 increased thickness of the bony arch that, in vertebrates, extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the zygomatic arch, typically resulting in decreased size 2017-11-10T11:48:32Z hypoplastic malar arch hypoplastic zygoma hypoplastic zygomatic arch MPheno.ontology MP:0030377 zygomatic arch hypoplasia MP:0030377 decrease in the number of normal cells in normal arrangement in the zygomatic arch, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the smallest part of the frontal bone which is connected to the frontal processes of the maxilla and the nasal bones, forming the stem (root) of the nose 2017-11-10T11:58:18Z abnormal pars nasalis ossis frontalis morphology MPheno.ontology MP:0030378 abnormal frontal bone nasal part morphology MP:0030378 any structural anomaly of the smallest part of the frontal bone which is connected to the frontal processes of the maxilla and the nasal bones, forming the stem (root) of the nose http://www.wow.com/wiki/Frontal_bone?s_pt=aolsem&s_chn=3 https://www.kenhub.com/en/library/anatomy/the-frontal-bone any structural anomaly of the vertical and largest, flat part of the frontal bone which forms the forehead and comprises the frontal sinuses; this part contains the supraorbital notch, the superciliary arches, the glabella, and the zygomatic processes which arise caudolaterally from the squamous part and articulate with the zygomatic bone 2017-11-10T12:10:12Z abnormal frontal bone vertical part morphology abnormal squama frontalis morphology MPheno.ontology MP:0030379 abnormal frontal bone squamous part morphology MP:0030379 any structural anomaly of the vertical and largest, flat part of the frontal bone which forms the forehead and comprises the frontal sinuses; this part contains the supraorbital notch, the superciliary arches, the glabella, and the zygomatic processes which arise caudolaterally from the squamous part and articulate with the zygomatic bone https://www.getbodysmart.com/ap/skeletalsystem/skeleton/axial/skull/cranialbones/frontal/tutorial.html https://www.kenhub.com/en/library/anatomy/the-frontal-bone any structural anomaly of the inferior extension of the squamous part of the frontal bone that joins with the frontal process of the zygomatic bone 2017-11-10T12:20:11Z abnormal processus zygomaticus (os frontale) morphology abnormal processus zygomaticus frontalis morphology abnormal processus zygomaticus ossis frontalis morphology MPheno.ontology MP:0030380 abnormal frontal bone zygomatic process morphology MP:0030380 any structural anomaly of the inferior extension of the squamous part of the frontal bone that joins with the frontal process of the zygomatic bone https://www.getbodysmart.com/ap/skeletalsystem/skeleton/axial/skull/cranialbones/frontal/tutorial.html any structural anomaly of the horizontal part of the frontal bone composed of two thin triangular plates, the orbital plates, which form the vaults of the orbits and the ethmoidal sinuses, and are separated from one another by a median gap, the ethmoidal notch; this part also comprises the anterior and posterior ethmoidal foramina 2017-11-10T13:22:34Z abnormal frontal bone horizontal part morphology abnormal pars orbitalis (os frontale) morphology abnormal pars orbitalis ossis frontalis morphology MPheno.ontology MP:0030381 abnormal frontal bone orbital part morphology MP:0030381 any structural anomaly of the horizontal part of the frontal bone composed of two thin triangular plates, the orbital plates, which form the vaults of the orbits and the ethmoidal sinuses, and are separated from one another by a median gap, the ethmoidal notch; this part also comprises the anterior and posterior ethmoidal foramina UBERON:0011627 https://radiopaedia.org/articles/frontal-bone https://www.kenhub.com/en/library/anatomy/the-frontal-bone missing one or more of the paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity 2017-11-10T13:43:15Z missing sinuses absent paranasal sinuses obliterated paranasal sinuses MPheno.ontology MP:0030382 absent paranasal sinus MP:0030382 missing one or more of the paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity https://orcid.org/0000-0002-6490-7723 reduced size of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult 2017-11-10T14:13:30Z decreased presphenoid bone size reduced presphenoid bone size MPheno.ontology MP:0030383 small presphenoid bone MP:0030383 reduced size of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult https://orcid.org/0000-0002-6490-7723 length reduction or truncation of one or more facial bones 2017-11-10T15:16:40Z decreased facial bone length reduced facial bone length short facial bones shortened facial bones truncated facial bones MPheno.ontology MP:0030384 short facial bone MP:0030384 length reduction or truncation of one or more facial bones https://orcid.org/0000-0002-6490-7723 failure to develop or absence of one or more facial bones 2017-11-10T15:45:24Z absent facial bones facial bone agenesis facial bone aplasia MPheno.ontology MP:0030385 absent facial bone MP:0030385 failure to develop or absence of one or more facial bones https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in a facial bone, typically resulting in decreased size 2017-11-10T17:08:08Z hypoplastic facial bone hypoplastic facial bones MPheno.ontology MP:0030386 facial bone hypoplasia MP:0030386 decrease in the number of normal cells in normal arrangement in a facial bone, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 an abnormally increased size of the triangle-shaped membranous interval between the pair of parietal bones and the occipital bone for age-related norms; the posterior fontanelle is located at the lambda, at the junction between the sagittal suture and the lambdoid suture 2017-11-13T09:54:33Z enlarged lambdoid fontanelle enlarged occipital fontanelle enlarged posterior fontanelle large lambdoid fontanel large lambdoid fontanelle large occipital fontanel large occipital fontanelle large open posterior fontanelle large posterior fontanel wide open posterior fontanelle wide posterior fontanelle MPheno.ontology MP:0030387 large posterior fontanelle MP:0030387 an abnormally increased size of the triangle-shaped membranous interval between the pair of parietal bones and the occipital bone for age-related norms; the posterior fontanelle is located at the lambda, at the junction between the sagittal suture and the lambdoid suture https://orcid.org/0000-0002-6490-7723 an abnormally increased size of one or more fontanelles for age-related norms, generally resulting from delayed or incomplete fontanelle closure 2017-11-13T11:10:14Z enlarged fontanelle enlarged fontanelles enlarged fontanels large fontanel large fontanelle large fontanels large open fontanelles persistent wide fontanel wide fontanelles wide open fontanelles widened fontanelles MPheno.ontology MP:0030388 large fontanelles MP:0030388 an abnormally increased size of one or more fontanelles for age-related norms, generally resulting from delayed or incomplete fontanelle closure HP:0000239 https://orcid.org/0000-0002-6490-7723 an abnormally decreased size of one or more fontanelles for age-related norms 2017-11-13T11:29:53Z decreased fontanelle size reduced fontanelle size small fontanel small fontanelle small fontanels MPheno.ontology MP:0030389 small fontanelles MP:0030389 an abnormally decreased size of one or more fontanelles for age-related norms HP:0005486 https://orcid.org/0000-0002-6490-7723 early closure of one or more of the joints (sutures) between facial bones 2017-11-13T12:44:30Z early fusion of facial sutures facial suture synostosis MPheno.ontology MP:0030390 premature facial suture closure MP:0030390 early closure of one or more of the joints (sutures) between facial bones https://orcid.org/0000-0002-6490-7723 early closure of the suture between the zygomatic process of the maxilla and the maxillary margin of the zygomatic bone 2017-11-13T13:31:15Z early fusion of zygomaticomaxillary sutures MPheno.ontology MP:0030391 premature zygomaticomaxillary suture closure MP:0030391 early closure of the suture between the zygomatic process of the maxilla and the maxillary margin of the zygomatic bone https://orcid.org/0000-0002-6490-7723 early closure of one or more of the membranous intervals at the margins of cranial bones; premature fontanelle closure can result from microcephaly, premature closure of the cranial sutures, or hyperthyroidism 2017-11-14T09:10:00Z early closure of the soft spots early fontanelle closure obliterated fontanelles obliterated fontanels premature fontanel closure MPheno.ontology MP:0030392 premature fontanelle closure MP:0030392 early closure of one or more of the membranous intervals at the margins of cranial bones; premature fontanelle closure can result from microcephaly, premature closure of the cranial sutures, or hyperthyroidism HP:0005458 https://books.google.com/books?isbn=0826123678 https://orcid.org/0000-0002-6490-7723 late onset of closure of one or more of the membranous intervals at the margins of cranial bones 2017-11-14T09:40:06Z delayed fontanel closure late closure of the soft spots MPheno.ontology MP:0030393 delayed fontanelle closure MP:0030393 late onset of closure of one or more of the membranous intervals at the margins of cranial bones https://orcid.org/0000-0002-6490-7723 any structural anomaly of the short limb (crus) of the incus that fits into a depression (fossa incudis) in the epitympanic recess; it is attached to the cavity wall by the posterior incudal ligament 2017-11-14T13:21:57Z abnormal crus breve incudis morphology abnormal incus short crus morphology abnormal incus short limb morphology MPheno.ontology MP:0030394 abnormal incus short process morphology MP:0030394 any structural anomaly of the short limb (crus) of the incus that fits into a depression (fossa incudis) in the epitympanic recess; it is attached to the cavity wall by the posterior incudal ligament http://audilab.bmed.mcgill.ca/~daren/3Dear/mid1.html https://medical-dictionary.thefreedictionary.com/short+limb+of+incus missing the short limb (crus) of the incus that, normally, fits into a depression (fossa incudis) in the epitympanic recess 2017-11-14T13:32:32Z absent crus breve incudis absent incus short crus absent incus short limb MPheno.ontology MP:0030395 absent incus short process MP:0030395 missing the short limb (crus) of the incus that, normally, fits into a depression (fossa incudis) in the epitympanic recess https://orcid.org/0000-0002-6490-7723 any structural anomaly of the long limb (crus) of the incus; at the tip of the long crus there is a small knob, the lenticular process, that articulates with the head of the stapes 2017-11-14T13:35:35Z abnormal crus longum incudis morphology abnormal incus long crus morphology abnormal incus long limb morphology MPheno.ontology MP:0030396 abnormal incus long process morphology MP:0030396 any structural anomaly of the long limb (crus) of the incus; at the tip of the long crus there is a small knob, the lenticular process, that articulates with the head of the stapes https://medical-dictionary.thefreedictionary.com/long+limb+of+incus any structural anomaly of the ovoid end of the incus that articulates with the head of the stapes; it is attached to the long process by a thin strut or pedicle 2017-11-14T13:39:16Z abnormal processus lenticularis incudis morphology MPheno.ontology MP:0030397 abnormal incus lenticular process morphology MP:0030397 any structural anomaly of the ovoid end of the incus that articulates with the head of the stapes; it is attached to the long process by a thin strut or pedicle PMID:21986927 https://medical-dictionary.thefreedictionary.com/long+limb+of+incus missing the ovoid end of the incus that articulates with the head of the stapes; normally, it is attached to the long process by a thin strut or pedicle 2017-11-14T13:43:30Z absent processus lenticularis incudis MPheno.ontology MP:0030398 absent incus lenticular process MP:0030398 missing the ovoid end of the incus that articulates with the head of the stapes; normally, it is attached to the long process by a thin strut or pedicle https://orcid.org/0000-0002-6490-7723 any structural anomaly of the flat, main part of the incus that articulates with the head of the malleus; two spines, the short and long processes, arise from the lower posterior part of the body and diverge from each other in a right angle 2017-11-14T13:47:06Z abnormal corpus incudis morphology MPheno.ontology MP:0030399 abnormal incus body morphology MP:0030399 any structural anomaly of the flat, main part of the incus that articulates with the head of the malleus; two spines, the short and long processes, arise from the lower posterior part of the body and diverge from each other in a right angle https://books.google.com/books?isbn=3642369677 any structural anomaly of the ring of fibrous tissue that connects the base of the stapes to the oval window (aka fenestra vestibuli) of the inner ear 2017-11-15T14:17:38Z abnormal annular stapedial ligament morphology abnormal ligamentum annulare stapedis morphology abnormal stapedial annular ligament morphology MPheno.ontology MP:0030400 abnormal stapes annular ligament morphology MP:0030400 any structural anomaly of the ring of fibrous tissue that connects the base of the stapes to the oval window (aka fenestra vestibuli) of the inner ear UBERON:0018161 https://en.wikipedia.org/wiki/Annular_ligament_of_stapes missing the ring of fibrous tissue that connects the base of the stapes to the oval window (aka fenestra vestibuli) of the inner ear 2017-11-15T14:26:08Z absent annular stapedial ligament absent ligamentum annulare stapedis absent stapedial annular ligament MPheno.ontology MP:0030401 absent stapes annular ligament MP:0030401 missing the ring of fibrous tissue that connects the base of the stapes to the oval window (aka fenestra vestibuli) of the inner ear https://orcid.org/0000-0002-6490-7723 any structural anomaly of the concave portion of the stapes, located on top of the neck, which articulates with the lenticular process of the long limb of the incus through the incudostapedial joint 2017-11-15T14:32:04Z abnormal caput stapedis morphology abnormal stapedial head morphology MPheno.ontology MP:0030402 abnormal stapes head morphology MP:0030402 any structural anomaly of the concave portion of the stapes, located on top of the neck, which articulates with the lenticular process of the long limb of the incus through the incudostapedial joint http://www.biology-online.org/dictionary/Head_of_stapes https://radiopaedia.org/articles/stapes missing the concave portion of the stapes, located on top of the neck, which articulates with the lenticular process of the long limb of the incus through the incudostapedial joint 2017-11-15T14:36:49Z absent caput stapedis absent stapedial head MPheno.ontology MP:0030403 absent stapes head MP:0030403 missing the concave portion of the stapes, located on top of the neck, which articulates with the lenticular process of the long limb of the incus through the incudostapedial joint https://orcid.org/0000-0002-6490-7723 any structural anomaly of the central foramen (hole) located between the crura and the footplate of the stapes through which the stapedial artery passes 2017-11-15T14:42:10Z abnormal intercrural foramen of stapes morphology abnormal obturator foramen of stapes morphology abnormal stapedial foramen morphology MPheno.ontology MP:0030404 abnormal stapes obturator foramen morphology MP:0030404 any structural anomaly of the central foramen (hole) located between the crura and the footplate of the stapes through which the stapedial artery passes PMID:10696017 PMID:22176756 reduced size of the central foramen (hole) located between the crura and the footplate of the stapes through which the stapedial artery passes 2017-11-15T14:47:37Z decreased stapes obturator foramen size reduced stapes obturator foramen size small intercrural foramen of stapes small obturator foramen of stapes small stapedial foramen MPheno.ontology MP:0030405 small stapes obturator foramen MP:0030405 reduced size of the central foramen (hole) located between the crura and the footplate of the stapes through which the stapedial artery passes https://orcid.org/0000-0002-6490-7723 missing the central foramen (hole) located between the crura and the footplate of the stapes through which the stapedial artery passes 2017-11-15T14:50:53Z absent intercrural foramen of stapes absent obturator foramen of stapes absent stapedial foramen MPheno.ontology MP:0030406 absent stapes obturator foramen MP:0030406 missing the central foramen (hole) located between the crura and the footplate of the stapes through which the stapedial artery passes https://orcid.org/0000-0002-6490-7723 any structural anomaly of either of the two (anterior and posterior) limbs of the stapes that pass from the head to the base or footplate; in mice, the anterior crus is curved and the posterior crus is more straight whereas in humans, the anterior crus is more straight than the posterior crus 2017-11-15T15:05:24Z abnormal stapes crura morphology abnormal stapes limb morpholgy MPheno.ontology MP:0030407 abnormal stapes crus morpholgy MP:0030407 any structural anomaly of either of the two (anterior and posterior) limbs of the stapes that pass from the head to the base or footplate; in mice, the anterior crus is curved and the posterior crus is more straight whereas in humans, the anterior crus is more straight than the posterior crus PMID:28117786 https://medical-dictionary.thefreedictionary.com/anterior+crus+of+stapes any structural anomaly of the generally longer arching stem of the stapes that projects medially from the neck, forming the posterior border of the bone, and joins the flat, disc-like base 2017-11-15T15:11:24Z abnormal crus posterius stapedis morphology abnormal stapes posterior limb morphology MPheno.ontology MP:0030408 abnormal stapes posterior crus morphology MP:0030408 any structural anomaly of the generally longer arching stem of the stapes that projects medially from the neck, forming the posterior border of the bone, and joins the flat, disc-like base http://www.anatomyexpert.com/app/structure/746/1925/ any structural anomaly of the generally shorter stem of the stapes that projects medially from the neck, forming the anterior border of the bone, and joins the flat, disc-like base 2017-11-15T15:14:45Z abnormal crus anterius stapedis morphology abnormal stapes anterior limb morphology MPheno.ontology MP:0030409 abnormal stapes anterior crus morphology MP:0030409 any structural anomaly of the generally shorter stem of the stapes that projects medially from the neck, forming the anterior border of the bone, and joins the flat, disc-like base http://www.anatomyexpert.com/app/structure/745/ fluid accumulation in the middle ear cavity due to dysfunction of the Eustachian tube 2017-11-17T11:30:38Z middle ear effusions MPheno.ontology MP:0030410 fluid may be serous, mucoid, bloody, purulent or any combination thereof; the term does not distinguish between effusions due to acute otitis media (AOM) and effusions due to otitis media with effusion (OME) middle ear effusion MP:0030410 fluid accumulation in the middle ear cavity due to dysfunction of the Eustachian tube PMID:1267372 https://www.medscape.org/viewarticle/730698 fluid may be serous, mucoid, bloody, purulent or any combination thereof; the term does not distinguish between effusions due to acute otitis media (AOM) and effusions due to otitis media with effusion (OME) https://books.google.com/books?isbn=1550092545 less than average size of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; it serves to regulate fluid pressure in the inner ear 2017-11-17T12:07:08Z decreased cochlear window size decreased fenestra cochleae size decreased fenestra rotunda size reduced round window size small cochlear window small fenestra cochleae small fenestra of the cochlea small fenestra rotunda small round window MPheno.ontology MP:0030411 decreased round window size MP:0030411 less than average size of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; it serves to regulate fluid pressure in the inner ear ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 absence of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; it serves to regulate fluid pressure in the inner ear 2017-11-17T12:13:07Z absent cochlear window absent fenestra cochleae absent fenestra of the cochlea absent fenestra rotunda MPheno.ontology MP:0030412 absent round window MP:0030412 absence of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; it serves to regulate fluid pressure in the inner ear https://orcid.org/0000-0002-6490-7723 a condition in which a segment of the tympanic membrane (eardrum) collapses inwards towards the middle ear space and lies more medially (deeper) than its normal position; the retracted segment is often known as a retraction pocket 2017-11-17T12:19:18Z eardrum retraction retracted eardrum retracted tympanic membrane MPheno.ontology MP:0030413 tympanic membrane retraction MP:0030413 a condition in which a segment of the tympanic membrane (eardrum) collapses inwards towards the middle ear space and lies more medially (deeper) than its normal position; the retracted segment is often known as a retraction pocket http://allearseducation.org/resources/Tutorial-10-Retractions.pdf https://en.wikipedia.org/wiki/Tympanic_membrane_retraction presence of a hole or tear in the tympanic membrane (eardrum) 2017-11-17T12:27:30Z eardrum perforation perforated eardrum perforated tympanic membrane ruptured eardrum tympanic membrane rupture MPheno.ontology MP:0030414 tympanic membrane perforation MP:0030414 presence of a hole or tear in the tympanic membrane (eardrum) https://www.emedicinehealth.com/perforated_eardrum/article_em.htm early closure of the anterior median suture between the two maxillae of the upper jawbone, located between the inferior border of the nasal aperture and the central incisor teeth 2017-11-17T12:36:37Z early fusion of intermaxillary sutures intermaxillary suture synostosis MPheno.ontology MP:0030415 premature intermaxillary suture closure MP:0030415 early closure of the anterior median suture between the two maxillae of the upper jawbone, located between the inferior border of the nasal aperture and the central incisor teeth https://orcid.org/0000-0002-6490-7723 missing the long, arched process that projects from the lower region of the squamous part of the temporal bone and articulates with the zygomatic bone 2017-11-17T12:53:26Z absent temporal zygomatic process absent zygomatic process of squamosal bone absent zygomatic process of temporal bone MPheno.ontology MP:0030416 absent temporal bone zygomatic process MP:0030416 missing the long, arched process that projects from the lower region of the squamous part of the temporal bone and articulates with the zygomatic bone https://orcid.org/0000-0002-6490-7723 excessive growth of the craniofacial bones 2017-11-17T13:31:58Z hyperostosis of craniofacial bones hypertrophy of craniofacial bones overgrowth of craniofacial bones MPheno.ontology MP:0030417 craniofacial hyperostosis MP:0030417 excessive growth of the craniofacial bones HP:0004493 excessive growth of the facial bones 2017-11-17T13:48:46Z excessive growth of facial skeleton hyperostosis of facial bones hyperostosis of facial skeleton hypertrophy of facial bones overgrowth of facial bones overgrowth of facial skeleton MPheno.ontology MP:0030418 facial hyperostosis MP:0030418 excessive growth of the facial bones HP:0005465 excess buildup of cerumen, a yellowish waxy substance (earwax), in the external auditory canal 2017-11-17T14:18:07Z ear wax accumulation ear wax buildup earwax buildup excessive ear wax excessive earwax MPheno.ontology MP:0030419 excessive cerumen MP:0030419 excess buildup of cerumen, a yellowish waxy substance (earwax), in the external auditory canal HP:0030789 decreased length of the anterior and/or posterior portions of the skull base 2017-11-23T10:54:45Z decreased cranial base length reduced cranial base length short cranial base short skull base MPheno.ontology MP:0030420 short basicranium MP:0030420 decreased length of the anterior and/or posterior portions of the skull base https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the tongue muscle, typically resulting in decreased size 2017-11-23T11:03:43Z hypoplastic lingual muscle hypoplastic tongue muscle lingual muscle hypoplasia MPheno.ontology MP:0030421 tongue muscle hypoplasia MP:0030421 decrease in the number of normal cells in normal arrangement in the tongue muscle, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the elastic cartilage components of the auricles and/or external acoustic meatus 2017-11-23T11:28:50Z abnormal external ear cartilage morphology MPheno.ontology MP:0030422 abnormal outer ear cartilage morphology MP:0030422 any structural anomaly of the elastic cartilage components of the auricles and/or external acoustic meatus https://orcid.org/0000-0002-6490-7723 any structural anomaly of the elastic cartilage component of the auricles 2017-11-23T11:38:53Z abnormal auricular cartilage morphology MPheno.ontology MP:0030423 abnormal pinna cartilage morphology MP:0030423 any structural anomaly of the elastic cartilage component of the auricles https://orcid.org/0000-0002-6490-7723 early closure of the transverse suture across the back of the hard palate that separates the maxillary shelf of the palate from the horizontal plates of the palatine bones 2017-11-23T11:49:38Z early fusion of palatomaxillary suture MPheno.ontology MP:0030424 premature palatomaxillary suture closure MP:0030424 early closure of the transverse suture across the back of the hard palate that separates the maxillary shelf of the palate from the horizontal plates of the palatine bones https://orcid.org/0000-0002-6490-7723 an abnormally increased width of the anterior median suture between the two maxillae of the upper jawbone for age-related norms 2017-11-23T12:14:43Z broad intermaxillary suture broadened intermaxillary suture large intermaxillary suture wide spaced intermaxillary suture widened intermaxillary suture MPheno.ontology MP:0030425 wide intermaxillary suture MP:0030425 an abnormally increased width of the anterior median suture between the two maxillae of the upper jawbone for age-related norms https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the facial muscle, typically resulting in decreased size 2017-11-23T12:31:07Z hypoplastic facial muscles MPheno.ontology MP:0030426 facial muscle hypoplasia MP:0030426 decrease in the number of normal cells in normal arrangement in the facial muscle, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of any skeletal muscle that is part of the cervical (neck) region 2017-11-23T12:53:57Z abnormal cervical muscle morphology abnormal neck musculature morphology neck muscle dysplasia MPheno.ontology MP:0030427 abnormal neck muscle morphology MP:0030427 any structural anomaly of any skeletal muscle that is part of the cervical (neck) region https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the three pairs of muscles in the lateral neck, namely the scalenus anterior, scalenus medius, and scalenus posterior; the scalenes are innervated by the cervical spinal nerves C4-C8, act as accessory muscles of respiration, and perform flexion at the neck 2017-11-23T13:40:16Z MPheno.ontology MP:0030428 abnormal scalene muscle morphology MP:0030428 any structural anomaly of any of the three pairs of muscles in the lateral neck, namely the scalenus anterior, scalenus medius, and scalenus posterior; the scalenes are innervated by the cervical spinal nerves C4-C8, act as accessory muscles of respiration, and perform flexion at the neck http://teachmeanatomy.info/neck/muscles/scalene/ https://en.wikipedia.org/wiki/Scalene_muscles any structural anomaly of the flat, thin muscle lying beneath the skin on the lateral surface of the maxillary bone; it arises from the maxillary bone, over the dorsum of the nose, and runs cranioventrally to insert partly on the wing of the nostril and partly into the lateral part of the upper lip; it acts to dilate the nostrils and elevate and retract the upper lip 2017-11-23T13:51:58Z abnormal levator nasolabialis morpholgy MPheno.ontology MP:0030429 abnormal levator nasolabialis muscle morphology MP:0030429 any structural anomaly of the flat, thin muscle lying beneath the skin on the lateral surface of the maxillary bone; it arises from the maxillary bone, over the dorsum of the nose, and runs cranioventrally to insert partly on the wing of the nostril and partly into the lateral part of the upper lip; it acts to dilate the nostrils and elevate and retract the upper lip UBERON:0011464 https://books.google.com/books?isbn=032332049X missing the flat, thin muscle that lies beneath the skin on the lateral surface of the maxillary bone; it arises from the maxillary bone, over the dorsum of the nose, and runs cranioventrally to insert partly on the wing of the nostril and partly into the lateral part of the upper lip; it acts to dilate the nostrils and elevate and retract the upper lip 2017-11-23T14:00:08Z absent levator nasolabialis MPheno.ontology MP:0030430 absent levator nasolabialis muscle MP:0030430 missing the flat, thin muscle that lies beneath the skin on the lateral surface of the maxillary bone; it arises from the maxillary bone, over the dorsum of the nose, and runs cranioventrally to insert partly on the wing of the nostril and partly into the lateral part of the upper lip; it acts to dilate the nostrils and elevate and retract the upper lip https://orcid.org/0000-0002-6490-7723 an abnormally increased width of the metopic suture for age-related norms 2017-11-23T14:31:04Z broad metopic suture large metopic suture wide frontal suture wide interfrontal suture wide median frontal suture wide mediofrontal suture wide spaced metopic suture widened metopic suture MPheno.ontology MP:0030431 wide metopic suture MP:0030431 an abnormally increased width of the metopic suture for age-related norms https://orcid.org/0000-0002-6490-7723 increased size of the oval-shaped opening in the middle cranial fossa located at the posterior base of the greater wing of the sphenoid bone, lateral to the lingula of the mandible 2017-11-23T15:09:14Z enlarged cranial foramen ovale enlarged foramen ovale cranii increased cranial foramen ovale size MPheno.ontology MP:0030432 large cranial foramen ovale MP:0030432 increased size of the oval-shaped opening in the middle cranial fossa located at the posterior base of the greater wing of the sphenoid bone, lateral to the lingula of the mandible https://orcid.org/0000-0002-6490-7723 https://radiopaedia.org/articles/foramen-ovale-skull increased size of the circular hole (foramen) in the sphenoid bone that connects the middle cranial fossa and the pterygopalatine fossa 2017-11-23T15:43:27Z enlarged foramen rotundum increased foramen rotundum size large foramen rotundum ossis sphenoidalis large round foramen MPheno.ontology MP:0030433 large foramen rotundum MP:0030433 increased size of the circular hole (foramen) in the sphenoid bone that connects the middle cranial fossa and the pterygopalatine fossa https://en.wikipedia.org/wiki/Foramen_rotundum https://orcid.org/0000-0002-6490-7723 early closure of the maxillary-premaxillary suture, the line of union of the two portions of the maxilla (pre- and postmaxilla) 2017-11-28T10:16:57Z premature incisive suture closure premature premaxillary suture closure premature premaxillary-maxillary suture closure premature premaxillomaxillary suture closure MPheno.ontology MP:0030434 premature maxillary-premaxillary suture closure MP:0030434 early closure of the maxillary-premaxillary suture, the line of union of the two portions of the maxilla (pre- and postmaxilla) https://orcid.org/0000-0002-6490-7723 early closure of any joint (suture) between cranial and/or facial bones 2017-11-28T10:27:18Z early fusion of craniofacial sutures premature suture closure MPheno.ontology MP:0030435 premature craniofacial suture closure MP:0030435 early closure of any joint (suture) between cranial and/or facial bones https://orcid.org/0000-0002-6490-7723 early closure of the joint (suture) between the frontal bone and the two nasal bones 2017-11-28T10:35:37Z early fusion of frontonasal sutures frontonasal suture synostosis MPheno.ontology MP:0030436 premature frontonasal suture closure MP:0030436 early closure of the joint (suture) between the frontal bone and the two nasal bones https://orcid.org/0000-0002-6490-7723 anomaly in the ability of osteoblasts to undergo expansion by cell division; osteoblasts are skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell 2017-11-28T10:48:04Z MPheno.ontology MP:0030437 abnormal osteoblast proliferation MP:0030437 anomaly in the ability of osteoblasts to undergo expansion by cell division; osteoblasts are skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell https://orcid.org/0000-0002-6490-7723 increase in the expansion rate of osteoblasts by cell division; osteoblasts are skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell 2017-11-28T10:54:14Z MPheno.ontology MP:0030438 increased osteoblast proliferation MP:0030438 increase in the expansion rate of osteoblasts by cell division; osteoblasts are skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell https://orcid.org/0000-0002-6490-7723 reduction in the expansion rate of osteoblasts by cell division; osteoblasts are skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell 2017-11-28T11:00:26Z reduced osteoblast proliferation MPheno.ontology MP:0030439 decreased osteoblast proliferation MP:0030439 reduction in the expansion rate of osteoblasts by cell division; osteoblasts are skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell https://orcid.org/0000-0002-6490-7723 change in the timing or the number of osteoblasts undergoing programmed cell death; osteoblasts are skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell 2017-11-28T11:20:47Z MPheno.ontology MP:0030440 abnormal osteoblast apoptosis MP:0030440 change in the timing or the number of osteoblasts undergoing programmed cell death; osteoblasts are skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell https://orcid.org/0000-0002-6490-7723 increase in the number of osteoblasts undergoing programmed cell death 2017-11-28T11:27:37Z MPheno.ontology MP:0030441 increased osteoblast apoptosis MP:0030441 increase in the number of osteoblasts undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 reduction in the number of osteoblasts undergoing programmed cell death 2017-11-28T11:31:51Z reduced osteoblast apoptosis MPheno.ontology MP:0030442 decreased osteoblast apoptosis MP:0030442 reduction in the number of osteoblasts undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 any anomaly in the development of cartilaginous joints or growth centers between bones of the skull base by the formation of hyaline cartilage which is abundant during the growth phase and ultimately ossifies during skeletal maturation; synchondroses are composed of mirror-image growth plates with a central resting zone, proliferative zones, and hypertrophic zones on both sides; in mouse, there are two synchondroses in the midline cranial base, the sphenooccipital and presphenoidal synchondroses 2017-11-28T11:36:49Z abnormal cranial synchondroses MPheno.ontology MP:0030443 abnormal cranial synchondrosis MP:0030443 any anomaly in the development of cartilaginous joints or growth centers between bones of the skull base by the formation of hyaline cartilage which is abundant during the growth phase and ultimately ossifies during skeletal maturation; synchondroses are composed of mirror-image growth plates with a central resting zone, proliferative zones, and hypertrophic zones on both sides; in mouse, there are two synchondroses in the midline cranial base, the sphenooccipital and presphenoidal synchondroses PMID:27250655 PMID:28827837 early fusion or ossification of one or more cranial base synchondroses relative to age- and sex-matched controls; can lead to midface hypoplasia, as seen in patients with specific forms of syndromic craniosynostosis 2017-11-28T11:45:48Z precocious cranial synchondrosis closure premature closure of cranial base synchondroses premature cranial synchondrosis fusion premature ossification of cranial synchondroses MPheno.ontology MP:0030444 premature cranial synchondrosis closure MP:0030444 early fusion or ossification of one or more cranial base synchondroses relative to age- and sex-matched controls; can lead to midface hypoplasia, as seen in patients with specific forms of syndromic craniosynostosis PMID:24480760 any anomaly in the development of the cartilaginous joint (growth center) between the basioccipital and basisphenoid bones that is an important driver of facial and cranial base growth; sphenooccipital synchondroses are among the last to fuse and may remain patent until early adulthood 2017-11-28T12:10:05Z abnormal SOS abnormal spheno-occipital synchondrosis MPheno.ontology MP:0030445 abnormal sphenooccipital synchondrosis MP:0030445 any anomaly in the development of the cartilaginous joint (growth center) between the basioccipital and basisphenoid bones that is an important driver of facial and cranial base growth; sphenooccipital synchondroses are among the last to fuse and may remain patent until early adulthood PMID:22777037 PMID:24255553 https://www.merriam-webster.com/medical/spheno-occipital%20synchondrosis early closure or ossification of the sphenooccipital synchondrosis relative to age- and sex-matched controls; premature fusion has been associated with midface hypoplasia in animal models and patients with specific forms of syndromic craniosynostosis 2017-11-28T12:47:52Z precocious sphenooccipital synchondrosis closure premature SOS closure premature fusion of sphenooccipital synchondrosis premature ossification of sphenooccipital synchondrosis premature spheno-occipital synchondrosis closure MPheno.ontology MP:0030446 premature sphenooccipital synchondrosis closure MP:0030446 early closure or ossification of the sphenooccipital synchondrosis relative to age- and sex-matched controls; premature fusion has been associated with midface hypoplasia in animal models and patients with specific forms of syndromic craniosynostosis PMID:24406578 PMID:24480760 any anomaly in the development of the cartilaginous joint (growth center) between the presphenoid and basisphenoid bones of the skull base 2017-11-28T13:00:21Z abnormal PSS abnormal intersphenoid synchondrosis abnormal intersphenoidal synchondrosis abnormal pre-sphenoid synchondrosis abnormal presphenoidal synchondrosis MPheno.ontology MP:0030447 abnormal presphenoid synchondrosis MP:0030447 any anomaly in the development of the cartilaginous joint (growth center) between the presphenoid and basisphenoid bones of the skull base PMID:23179633 early closure or ossification of the presphenoid synchondrosis relative to age- and sex-matched controls 2017-11-28T13:06:34Z precocious presphenoid synchondrosis closure premature PSS closure premature fusion of presphenoid synchondrosis premature intersphenoid synchondrosis closure premature intersphenoidal synchondrosis closure premature ossification of presphenoid synchondrosis premature pre-sphenoid synchondrosis closure premature presphenoidal synchondrosis closure MPheno.ontology MP:0030448 premature presphenoid synchondrosis closure MP:0030448 early closure or ossification of the presphenoid synchondrosis relative to age- and sex-matched controls https://orcid.org/0000-0002-6490-7723 solid fixation of a tooth resulting from fusion of the dental cementum and alveolar bone, with obliteration of the periodontal ligament 2017-11-30T12:43:22Z ankylosis of teeth dental ankyloses dental ankylosis dentoalveolar ankyloses dentoalveolar ankylosis teeth ankyloses teeth ankylosis tooth ankyloses MPheno.ontology MP:0030449 tooth ankylosis MP:0030449 solid fixation of a tooth resulting from fusion of the dental cementum and alveolar bone, with obliteration of the periodontal ligament RDO:0001938 anomaly in the process by which calcium salts, mainly carbonated hydroxyapatite, are deposited into the dental enamel 2017-11-30T13:03:30Z abnormal enamel calcification enamel mineralization defects MPheno.ontology MP:0030450 abnormal enamel mineralization MP:0030450 anomaly in the process by which calcium salts, mainly carbonated hydroxyapatite, are deposited into the dental enamel GO:0070166 anomaly in the process by which calcium salts are deposited into dentin 2017-11-30T13:08:47Z abnormal dentin calcification dentin mineralization defects MPheno.ontology MP:0030451 abnormal dentin mineralization MP:0030451 anomaly in the process by which calcium salts are deposited into dentin GO:0097188 anomaly in the process by which calcium salts, mainly carbonated hydroxyapatite, are deposited into the initial acellular cementum 2017-11-30T13:15:42Z abnormal cementum calcification cementum mineralization defects MPheno.ontology MP:0030452 abnormal cementum mineralization MP:0030452 anomaly in the process by which calcium salts, mainly carbonated hydroxyapatite, are deposited into the initial acellular cementum GO:0071529 any structural anomaly of the skeletogenic cell on the outer surface of the dental pulp that secretes dentin matrix, is derived from the odontogenic papilla, and develops from a preodontoblast cell 2017-11-30T13:24:38Z MPheno.ontology MP:0030453 abnormal odontoblast morphology MP:0030453 any structural anomaly of the skeletogenic cell on the outer surface of the dental pulp that secretes dentin matrix, is derived from the odontogenic papilla, and develops from a preodontoblast cell CL:0000060 GO:0071895 deviation from the normal number of skeletogenic cells on the outer surface of the dental pulp that secrete dentin matrix, are derived from the odontogenic papilla, and develop from preodontoblast cells 2017-11-30T13:30:28Z MPheno.ontology MP:0030454 abnormal odontoblast number MP:0030454 deviation from the normal number of skeletogenic cells on the outer surface of the dental pulp that secrete dentin matrix, are derived from the odontogenic papilla, and develop from preodontoblast cells https://orcid.org/0000-0002-6490-7723 greater than normal number of the skeletogenic cells on the outer surface of the dental pulp that secrete dentin matrix, are derived from the odontogenic papilla, and develop from preodontoblast cells 2017-11-30T13:36:25Z MPheno.ontology MP:0030455 increased odontoblast number MP:0030455 greater than normal number of the skeletogenic cells on the outer surface of the dental pulp that secrete dentin matrix, are derived from the odontogenic papilla, and develop from preodontoblast cells https://orcid.org/0000-0002-6490-7723 anomaly in the process by which a relatively unspecialized cell of neural crest origin acquires the specialized features of an odontoblast, a skeletogenic cell on the outer surface of the dental pulp that secretes dentin matrix, is derived from the odontogenic papilla, and develops from a preodontoblast cell 2017-11-30T13:46:39Z MPheno.ontology MP:0030456 abnormal odontoblast differentiation MP:0030456 anomaly in the process by which a relatively unspecialized cell of neural crest origin acquires the specialized features of an odontoblast, a skeletogenic cell on the outer surface of the dental pulp that secretes dentin matrix, is derived from the odontogenic papilla, and develops from a preodontoblast cell CL:0000060 GO:0071895 any structural anomaly of an elevation or mound on the crown of a molar tooth making up a part of the occlusal (masticatory) surface 2017-11-30T14:01:10Z MPheno.ontology MP:0030457 abnormal molar cusp morphology MP:0030457 any structural anomaly of an elevation or mound on the crown of a molar tooth making up a part of the occlusal (masticatory) surface https://medical-dictionary.thefreedictionary.com/cusp+of+tooth https://orcid.org/0000-0002-6490-7723 change in the progression or severity of loss of tooth substance, usually resulting from abrasion, attrition and erosion acting singly or concurrently; tooth wear is a normal, age-dependent physiological process that leads to surface loss of dental hard tissues 2017-11-30T14:16:51Z abnormal dental wear MPheno.ontology MP:0030458 abnormal tooth wear MP:0030458 change in the progression or severity of loss of tooth substance, usually resulting from abrasion, attrition and erosion acting singly or concurrently; tooth wear is a normal, age-dependent physiological process that leads to surface loss of dental hard tissues PMID:22240686 https://www.igi-global.com/dictionary/tooth-wear/45534 https://www.slideshare.net/aneeqa_yaqub/tooth-wear-and-its-types change in the physiologic wearing away of tooth structure as a result of abnormal tooth-to-tooth contact, as in mastication, occurring only on the occlusal, incisal, and proximal surfaces 2017-11-30T14:25:19Z abnormal dental attrition abnormal occlusal tooth wear abnormal occlusal wear MPheno.ontology MP:0030459 abnormal tooth attrition MP:0030459 change in the physiologic wearing away of tooth structure as a result of abnormal tooth-to-tooth contact, as in mastication, occurring only on the occlusal, incisal, and proximal surfaces PMID:22240686 RDO:0007259 presence of small depressions in the dental enamel 2017-12-04T12:08:37Z dental enamel pits dental enamel pitting pitting of tooth enamel tooth enamel pits MPheno.ontology MP:0030460 enamel pits MP:0030460 presence of small depressions in the dental enamel HP:0009722 any structural anomaly of the vertical cranial suture located between the sphenoid and temporal bones bilaterally; it is formed by the articulation between the posterior border of the greater wing of the sphenoid bone and the anterior border of the squamous part of the temporal bone 2017-12-04T12:16:47Z MPheno.ontology MP:0030461 abnormal sphenosquamosal suture morphology MP:0030461 any structural anomaly of the vertical cranial suture located between the sphenoid and temporal bones bilaterally; it is formed by the articulation between the posterior border of the greater wing of the sphenoid bone and the anterior border of the squamous part of the temporal bone https://radiopaedia.org/articles/sphenosquamosal-suture a pocket of pus localized within a region of a tooth, usually caused by a bacterial infection 2017-12-04T12:27:19Z dental abscess dentoalveolar abscess MPheno.ontology MP:0030462 tooth abscess MP:0030462 a pocket of pus localized within a region of a tooth, usually caused by a bacterial infection HP:0030757 https://www.mayoclinic.org/diseases-conditions/tooth-abscess/symptoms-causes/syc-20350901 a tooth abscess that occurs at or around the tip of the root (apex) of a tooth; may result from pulp infection due to carious lesion or pulp necrosis resulting from injury 2017-12-04T12:35:57Z apical dental abscess apical dentoalveolar abscess periapical tooth abscess MPheno.ontology MP:0030463 apical tooth abscess MP:0030463 a tooth abscess that occurs at or around the tip of the root (apex) of a tooth; may result from pulp infection due to carious lesion or pulp necrosis resulting from injury HP:0030758 https://medical-dictionary.thefreedictionary.com/periapical+abscess any structural anomaly of any cartilage element that is part of the cranial skeleton 2017-12-04T12:46:17Z abnormal cranium cartilage morphology MPheno.ontology MP:0030464 abnormal cranial cartilage morphology MP:0030464 any structural anomaly of any cartilage element that is part of the cranial skeleton UBERON:0003933 missing the oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes 2017-12-04T13:11:06Z absent fenestra of the vestibule absent fenestra ovalis absent fenestra vestibuli absent vestibular window MPheno.ontology MP:0030465 absent oval window MP:0030465 missing the oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of the alveolar process associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes 2017-12-04T13:20:17Z alveolar bone atrophy alveolar bone loss alveolar bone resorption alveolar ridge atrophy MPheno.ontology MP:0030466 alveolar process atrophy MP:0030466 acquired diminution of the size of the alveolar process associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 anomaly in the formation of any cartilage element that is part of the cranial skeleton 2017-12-04T13:53:52Z abnormal cranial cartilage formation abnormal cranial chondrogenesis abnormal cranium cartilage formation cranial dyschondrogenesis MPheno.ontology MP:0030467 abnormal cranial cartilage development MP:0030467 anomaly in the formation of any cartilage element that is part of the cranial skeleton https://orcid.org/0000-0002-6490-7723 any structural anomaly of the passageway within the petrous temporal bone that transmits the internal carotid artery and sympathetic plexus; its inferior opening is the carotid foramen situated anteriorly to the jugular fossa and medially to the tympanic plate; the carotid canal is initially directed superiorly, then turns anteromedially to reach up to the petrous apex, runs within the petrous bone, and opens into the middle cranial fossa superior to the foramen lacerum 2017-12-05T12:11:08Z MPheno.ontology MP:0030468 abnormal carotid canal morphology MP:0030468 any structural anomaly of the passageway within the petrous temporal bone that transmits the internal carotid artery and sympathetic plexus; its inferior opening is the carotid foramen situated anteriorly to the jugular fossa and medially to the tympanic plate; the carotid canal is initially directed superiorly, then turns anteromedially to reach up to the petrous apex, runs within the petrous bone, and opens into the middle cranial fossa superior to the foramen lacerum https://radiopaedia.org/articles/carotid-canal abnormal narrowing or constriction of the short canal through the orbitosphenoid bone at the apex of the orbit that gives passage to the optic nerve and the ophthalmic artery 2017-12-05T12:36:23Z constricted optic canal narrow optic canal narrow optic foramen narrow optic foramina narrowed optic canal MPheno.ontology MP:0030469 optic canal stenosis MP:0030469 abnormal narrowing or constriction of the short canal through the orbitosphenoid bone at the apex of the orbit that gives passage to the optic nerve and the ophthalmic artery https://orcid.org/0000-0002-6490-7723 any structural anomaly of the large irregular opening from the posterior cranial fossa that is bounded anteriorly by the petrous part of the temporal bone and posteriorly by the jugular notch of the occipital bone; it transmits the inferior petrosal sinus, the glossopharyngeal, vagus, and accessory nerves, and the internal jugular vein 2017-12-05T12:47:37Z abnormal posterior lacerate foramen morphology MPheno.ontology MP:0030470 abnormal jugular foramen morphology MP:0030470 any structural anomaly of the large irregular opening from the posterior cranial fossa that is bounded anteriorly by the petrous part of the temporal bone and posteriorly by the jugular notch of the occipital bone; it transmits the inferior petrosal sinus, the glossopharyngeal, vagus, and accessory nerves, and the internal jugular vein UBERON:0005456 https://www.merriam-webster.com/medical/jugular%20foramen any anomaly in the process in which a relatively unspecialized cell acquires specialized features of a functional ameloblast, a tall, columnar, polarized epithelial cell in the innermost layer of the enamel organ of a developing tooth involved with the formation of enamel matrix 2017-12-07T11:54:55Z abnormal ameloblast cell differentiation MPheno.ontology MP:0030471 abnormal ameloblast differentiation MP:0030471 any anomaly in the process in which a relatively unspecialized cell acquires specialized features of a functional ameloblast, a tall, columnar, polarized epithelial cell in the innermost layer of the enamel organ of a developing tooth involved with the formation of enamel matrix GO:0036305 PMID:19090561 union of two separately developing tooth germs typically leading to one less tooth than normal in the affected arch 2017-12-07T12:10:26Z fusion of teeth joined teeth MPheno.ontology MP:0030472 fused teeth MP:0030472 union of two separately developing tooth germs typically leading to one less tooth than normal in the affected arch HP:0011090 PMID:18167487 union of two adjacent molar teeth in the maxilla and/or mandible 2017-12-07T12:19:06Z fusion of molar teeth joined molars MPheno.ontology MP:0030473 fused molars MP:0030473 union of two adjacent molar teeth in the maxilla and/or mandible https://orcid.org/0000-0002-6490-7723 union of two adjacent incisor teeth in the maxilla and/or mandible 2017-12-07T12:24:55Z fusion of incisor teeth joined incisors MPheno.ontology MP:0030474 fused incisors MP:0030474 union of two adjacent incisor teeth in the maxilla and/or mandible https://orcid.org/0000-0002-6490-7723 union of two adjacent incisor teeth in the mandible 2017-12-07T12:29:01Z fused lower jaw incisors fused mandibular incisors joined lower incisors joined mandibular incisors MPheno.ontology MP:0030475 fused lower incisors MP:0030475 union of two adjacent incisor teeth in the mandible https://orcid.org/0000-0002-6490-7723 union of two adjacent incisor teeth in the maxilla 2017-12-07T12:35:18Z fused maxillary incisors fused upper jaw incisors joined maxillary incisors joined upper incisors MPheno.ontology MP:0030476 fused upper incisors MP:0030476 union of two adjacent incisor teeth in the maxilla https://orcid.org/0000-0002-6490-7723 any functional anomaly of a mature osteoblast that has become embedded in the bone matrix (osteoid) in a small cavity called lacuna and that extends cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi 2017-12-07T12:55:17Z MPheno.ontology MP:0030477 abnormal osteocyte physiology MP:0030477 any functional anomaly of a mature osteoblast that has become embedded in the bone matrix (osteoid) in a small cavity called lacuna and that extends cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi https://orcid.org/0000-0002-6490-7723 change in the timing or the number of osteocytes undergoing programmed cell death; an osteocyte is a mature osteoblast that has become embedded in the bone matrix (osteoid) in a small cavity called lacuna and that extends cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi 2017-12-07T12:59:08Z MPheno.ontology MP:0030478 abnormal osteocyte apoptosis MP:0030478 change in the timing or the number of osteocytes undergoing programmed cell death; an osteocyte is a mature osteoblast that has become embedded in the bone matrix (osteoid) in a small cavity called lacuna and that extends cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi https://orcid.org/0000-0002-6490-7723 increase in the number of osteocytes undergoing programmed cell death 2017-12-07T13:05:06Z MPheno.ontology MP:0030479 increased osteocyte apoptosis MP:0030479 increase in the number of osteocytes undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 reduction in the number of osteocytes undergoing programmed cell death 2017-12-07T13:09:05Z reduced osteocyte apoptosis MPheno.ontology MP:0030480 decreased osteocyte apoptosis MP:0030480 reduction in the number of osteocytes undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 deviation from the average number of mature osteoblasts that have become embedded in the bone matrix (osteoid) in small cavities called lacunae and that extend cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi 2017-12-07T13:15:59Z MPheno.ontology MP:0030481 abnormal osteocyte number MP:0030481 deviation from the average number of mature osteoblasts that have become embedded in the bone matrix (osteoid) in small cavities called lacunae and that extend cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi https://orcid.org/0000-0002-6490-7723 greater than average number of mature osteoblasts that have become embedded in the bone matrix (osteoid) in small cavities called lacunae and that extend cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi 2017-12-07T13:20:25Z MPheno.ontology MP:0030482 increased osteocyte number MP:0030482 greater than average number of mature osteoblasts that have become embedded in the bone matrix (osteoid) in small cavities called lacunae and that extend cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi https://orcid.org/0000-0002-6490-7723 reduction in the number of mature osteoblasts that have become embedded in the bone matrix (osteoid) in small cavities called lacunae and that extend cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi 2017-12-07T13:24:09Z reduced osteocyte number MPheno.ontology MP:0030483 decreased osteocyte number MP:0030483 reduction in the number of mature osteoblasts that have become embedded in the bone matrix (osteoid) in small cavities called lacunae and that extend cytoplasmic (dendritic) processes away from the cell body toward other osteocytes and neighboring cells in small channels called canaliculi https://orcid.org/0000-0002-6490-7723 any structural anomaly of the small cavity within the bone matrix that is occupied by an osteocyte cell body, and from which slender canaliculi radiate and penetrate the adjacent lamellae to anastomose with the canaliculi of neighboring lacunae, thus forming a system of cavities interconnected by minute canals 2017-12-07T13:44:22Z abnormal bone lacuna morphology abnormal osteocyte lacunae morphology abnormal osteocytic lacunae morphology MPheno.ontology MP:0030484 abnormal osteocyte lacuna morphology MP:0030484 any structural anomaly of the small cavity within the bone matrix that is occupied by an osteocyte cell body, and from which slender canaliculi radiate and penetrate the adjacent lamellae to anastomose with the canaliculi of neighboring lacunae, thus forming a system of cavities interconnected by minute canals https://medical-dictionary.thefreedictionary.com/osteocyte+lacuna any structural anomaly of the large network intercommunicating the lacunae and canaliculi which contain the osteocytes and their cytoplasmic processes within the mineralized bone matrix 2017-12-07T14:24:18Z abnormal lacuno-canalicular system morphology abnormal osteocyte lacuno-canalicular system morphology MPheno.ontology MP:0030485 abnormal osteocyte lacunocanalicular system morphology MP:0030485 any structural anomaly of the large network intercommunicating the lacunae and canaliculi which contain the osteocytes and their cytoplasmic processes within the mineralized bone matrix PMID:22928392 any structural anomaly of the slender canals situated between the lacunae of ossified bone where osteocyte cytoplasmic (dendritic) processes reside; osteocyte canaliculi are used for exchange of nutrients and waste products through gap junctions 2017-12-07T14:31:59Z abnormal osteocyte canaliculi morphology MPheno.ontology MP:0030486 abnormal osteocyte canaliculus morphology MP:0030486 any structural anomaly of the slender canals situated between the lacunae of ossified bone where osteocyte cytoplasmic (dendritic) processes reside; osteocyte canaliculi are used for exchange of nutrients and waste products through gap junctions https://en.wikipedia.org/wiki/Bone_canaliculus https://en.wikipedia.org/wiki/Osteocyte any structural anomaly of the long, slender cytoplasmic processes by which mature osteocytes communicate with one another, receive mechanosensory signals and participate in the regulation of bone turnover; these processes radiate from the osteocyte cell body, run along narrow canaliculi, and are linked to other neighboring osteocytes processes by gap junctions, as well as to cytoplasmic processes of osteoblasts and bone lining cells on the bone surface 2017-12-07T14:40:37Z abnormal osteocyte cytoplasmic process morphology abnormal osteocyte dendrite morphology abnormal osteocyte process morphology MPheno.ontology MP:0030487 abnormal osteocyte dendritic process morphology MP:0030487 any structural anomaly of the long, slender cytoplasmic processes by which mature osteocytes communicate with one another, receive mechanosensory signals and participate in the regulation of bone turnover; these processes radiate from the osteocyte cell body, run along narrow canaliculi, and are linked to other neighboring osteocytes processes by gap junctions, as well as to cytoplasmic processes of osteoblasts and bone lining cells on the bone surface PMID:24419319 https://www.hindawi.com/journals/bmri/2015/421746/ any structural anomaly of any of the cavities or sockets in the alveolar process of the mandible or maxilla, in which the roots of the teeth are held by fibers of the periodontal ligament 2017-12-11T08:23:31Z abnormal dental alveoli morphology abnormal dental alveolus morphology abnormal tooth alveolus morphology MPheno.ontology MP:0030488 abnormal tooth socket morphology MP:0030488 any structural anomaly of any of the cavities or sockets in the alveolar process of the mandible or maxilla, in which the roots of the teeth are held by fibers of the periodontal ligament UBERON:0003686 https://en.wikipedia.org/wiki/Dental_alveolus any structural anomaly of any of the cavities or sockets in the alveolar process of the mandible or maxilla, in which the roots of molar teeth are held by fibers of the periodontal ligament 2017-12-11T08:32:00Z abnormal molar alveolus morphology abnormal molar tooth alveolus morphology abnormal molar tooth socket morphology MPheno.ontology MP:0030489 abnormal molar socket morphology MP:0030489 any structural anomaly of any of the cavities or sockets in the alveolar process of the mandible or maxilla, in which the roots of molar teeth are held by fibers of the periodontal ligament https://orcid.org/0000-0002-6490-7723 a pathologic deepening of the gingival sulcus as a result of apical migration of the junctional epithelium and the destruction of alveolar bone and periodontal ligament fiber bundles 2017-12-11T08:51:54Z periodontal pockets MPheno.ontology MP:0030490 periodontal pocket MP:0030490 a pathologic deepening of the gingival sulcus as a result of apical migration of the junctional epithelium and the destruction of alveolar bone and periodontal ligament fiber bundles https://books.google.com/books?isbn=0781784875 nodular, calcified masses appearing in either or both the coronal and root portion of the pulp organ in teeth 2017-12-11T09:18:43Z dental pulp calcification pulp denticles pulp endoliths pulp stones pulpoliths MPheno.ontology MP:0030491 dental pulp stones MP:0030491 nodular, calcified masses appearing in either or both the coronal and root portion of the pulp organ in teeth HP:0003771 https://en.wikipedia.org/wiki/Pulp_stone any structural anomaly of the specialized peg-in-socket fibrous joint between the root of a tooth and the socket in the maxilla or mandible; this type of joint permits very limited or no movement under normal conditions and is functionally classified as a synarthrosis 2017-12-11T09:37:57Z abnormal dento-alveolar joint morphology abnormal dento-alveolar syndesmosis morphology abnormal gomphosis morphology MPheno.ontology MP:0030492 abnormal dentoalveolar joint morphology MP:0030492 any structural anomaly of the specialized peg-in-socket fibrous joint between the root of a tooth and the socket in the maxilla or mandible; this type of joint permits very limited or no movement under normal conditions and is functionally classified as a synarthrosis https://en.wikipedia.org/wiki/Fibrous_joint#Gomphosis any structural anomaly of the part of a tooth that is implanted in the gum; the root is located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone 2017-12-11T09:48:15Z abnormal dental root morphology MPheno.ontology MP:0030493 abnormal tooth root morphology MP:0030493 any structural anomaly of the part of a tooth that is implanted in the gum; the root is located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone https://orcid.org/0000-0002-6490-7723 any structural anomaly of the part of a molar tooth that is implanted in the gum 2017-12-11T09:58:00Z abnormal molar tooth root morphology MPheno.ontology MP:0030494 abnormal molar root morphology MP:0030494 any structural anomaly of the part of a molar tooth that is implanted in the gum https://orcid.org/0000-0002-6490-7723 absence of or failure to develop the part of a tooth that is implanted in the gum; normally, the root is located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone 2017-12-11T10:15:17Z absence of tooth root absent dental root agenesis of tooth root aplasia of tooth root rootless teeth rootless tooth MPheno.ontology MP:0030495 absent tooth root MP:0030495 absence of or failure to develop the part of a tooth that is implanted in the gum; normally, the root is located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone https://orcid.org/0000-0002-6490-7723 a developmental anomaly involving molar teeth, whereby the body of the tooth and pulp chamber is enlarged vertically at the expense of the roots and the root canal length; characteristic features include an enlarged pulp chamber, absence of the usual constriction at the cemento-enamel junction, and apical shift of the pulp chamber floor and furcation area down the root 2017-12-11T11:45:11Z taurodont taurodontism MPheno.ontology MP:0030496 taurodontia MP:0030496 a developmental anomaly involving molar teeth, whereby the body of the tooth and pulp chamber is enlarged vertically at the expense of the roots and the root canal length; characteristic features include an enlarged pulp chamber, absence of the usual constriction at the cemento-enamel junction, and apical shift of the pulp chamber floor and furcation area down the root PMID:24574680 https://en.wikipedia.org/wiki/Taurodontism decreased length of the part of a tooth that is implanted in the gum; the root is located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone 2017-12-11T12:53:42Z decreased length of dental root decreased length of tooth root short dental root short dental roots short tooth roots MPheno.ontology MP:0030497 short tooth root MP:0030497 decreased length of the part of a tooth that is implanted in the gum; the root is located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone https://orcid.org/0000-0002-6490-7723 any structural anomaly of the U-shaped stripe of thickened oral epithelium marking the future tooth row; the primary dental lamina is the earliest morphological structure of the tooth formed in the embryo; local thickenings of the dental lamina from which individual teeth are initiated are known as tooth placodes 2017-12-15T11:50:47Z abnormal embryonic dental lamina morphology abnormal odontogenic band morphology abnormal primary dental lamina morphology MPheno.ontology MP:0030498 abnormal dental lamina morphology MP:0030498 any structural anomaly of the U-shaped stripe of thickened oral epithelium marking the future tooth row; the primary dental lamina is the earliest morphological structure of the tooth formed in the embryo; local thickenings of the dental lamina from which individual teeth are initiated are known as tooth placodes https://www.ncbi.nlm.nih.gov/books/NBK27071/ a peg-shaped (coniform) tooth whose sides converge or taper together incisally 2017-12-15T13:05:57Z cone-shaped tooth conical teeth conoid tooth peg tooth peg-like tooth peg-shaped teeth peg-shaped tooth MPheno.ontology MP:0030499 conical tooth MP:0030499 a peg-shaped (coniform) tooth whose sides converge or taper together incisally HP:0000698 a molar tooth whose sides converge or taper together incisally forming a peg-shaped (coniform) crown 2017-12-15T13:15:38Z cone-shaped molar conical molar tooth conical molars conoid molar peg molar peg-like molar peg-shaped molar peg-shaped molars MPheno.ontology MP:0030500 conical molar MP:0030500 a molar tooth whose sides converge or taper together incisally forming a peg-shaped (coniform) crown https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of several bony canals leading from the floor of the nasal cavity into the incisive fossa on the palatal surface of the maxilla; they convey the nasopalatine nerves and branches of the greater palatine arteries that anastomose with the septal branch of the sphenopalatine artery 2017-12-15T13:23:23Z abnormal nasopalatine canal morphology MPheno.ontology MP:0030501 abnormal incisive canal morphology MP:0030501 any structural anomaly of any of several bony canals leading from the floor of the nasal cavity into the incisive fossa on the palatal surface of the maxilla; they convey the nasopalatine nerves and branches of the greater palatine arteries that anastomose with the septal branch of the sphenopalatine artery UBERON:0006672 https://radiopaedia.org/articles/incisive-canal any structural anomaly of any oral opening of the nasopalatine (incisive) canal; it is located in the maxilla in the incisive fossa, midline in the palate posterior to the central incisors, at the junction of the medial palatine and incisive sutures; it can be single or multiple; it transmits the greater palatine artery and vein from the oral to the nasal cavity and the nasopalatine nerve in the opposite direction 2017-12-15T13:37:30Z abnormal anterior palatine foramen morphology abnormal nasopalatine foramen morphology MPheno.ontology MP:0030502 abnormal incisive foramen morphology MP:0030502 any structural anomaly of any oral opening of the nasopalatine (incisive) canal; it is located in the maxilla in the incisive fossa, midline in the palate posterior to the central incisors, at the junction of the medial palatine and incisive sutures; it can be single or multiple; it transmits the greater palatine artery and vein from the oral to the nasal cavity and the nasopalatine nerve in the opposite direction UBERON:0012315 https://radiopaedia.org/articles/incisive-foramen any structural anomaly of the slightly constricted part of a tooth between the crown and the root 2017-12-15T13:51:35Z abnormal cervix dentis morphology abnormal collum dentis morphology abnormal dental neck morphology abnormal tooth cervix morphology MPheno.ontology MP:0030503 abnormal tooth neck morphology MP:0030503 any structural anomaly of the slightly constricted part of a tooth between the crown and the root UBERON:0015181 https://medical-dictionary.thefreedictionary.com/tooth+neck any anomaly of the interface between the cementum and enamel at the cervical region (neck) of a tooth; it represents the anatomic limit or line of division between the crown and root surface 2017-12-15T13:59:35Z abnormal CEJ morphology abnormal cemento-enamel junction morphology abnormal cervical line morphology MPheno.ontology MP:0030504 abnormal cementoenamel junction morphology MP:0030504 any anomaly of the interface between the cementum and enamel at the cervical region (neck) of a tooth; it represents the anatomic limit or line of division between the crown and root surface https://medical-dictionary.thefreedictionary.com/cementoenamel+junction cessation of eruption of a tooth caused by a clinically or radiographically detectable physical barrier in the eruption path or by an ectopic position of the tooth; an impacted tooth is one that is unable to fully erupt in its proper location because it is blocked by tissue, bone or another tooth 2017-12-15T14:30:40Z dental impaction impacted tooth impacted teeth MPheno.ontology MP:0030505 tooth impaction MP:0030505 cessation of eruption of a tooth caused by a clinically or radiographically detectable physical barrier in the eruption path or by an ectopic position of the tooth; an impacted tooth is one that is unable to fully erupt in its proper location because it is blocked by tissue, bone or another tooth https://books.google.com/books?isbn=9350252147 https://en.wikipedia.org/wiki/Tooth_impaction any structural anomaly of the loose ectomesenchyme-derived connective tissue sac that surrounds the enamel organ and the dental papilla of the developing tooth germ before eruption; it is believed that this tissue contains stem cells and lineage-committed progenitor cells or precursor cells for cementoblasts, periodontal ligament (PDL) cells and osteoblasts; dental follicle cells form the PDL by differentiating into PDL fibroblasts that secrete collagen and interact with fibers on the surface of adjacent bone and cementum 2017-12-15T14:58:52Z abnormal dental sac morphology abnormal tooth follicle morphology MPheno.ontology MP:0030506 abnormal dental follicle morphology MP:0030506 any structural anomaly of the loose ectomesenchyme-derived connective tissue sac that surrounds the enamel organ and the dental papilla of the developing tooth germ before eruption; it is believed that this tissue contains stem cells and lineage-committed progenitor cells or precursor cells for cementoblasts, periodontal ligament (PDL) cells and osteoblasts; dental follicle cells form the PDL by differentiating into PDL fibroblasts that secrete collagen and interact with fibers on the surface of adjacent bone and cementum PMID:21035344 any structural anomaly of the condensation of ectomesenchymal cells called odontoblasts seen in histologic sections of a developing tooth; the dental papilla lies below a cellular aggregation known as the enamel organ and differentiates into the dentin and dental pulp 2017-12-15T15:29:10Z MPheno.ontology MP:0030507 abnormal dental papilla morphology MP:0030507 any structural anomaly of the condensation of ectomesenchymal cells called odontoblasts seen in histologic sections of a developing tooth; the dental papilla lies below a cellular aggregation known as the enamel organ and differentiates into the dentin and dental pulp https://en.wikipedia.org/wiki/Dental_papilla any structural anomaly of the epithelium that is part of a developing tooth or dental (enamel) organ 2017-12-22T10:40:36Z abnormal odontogenic epithelium morphology abnormal tooth epithelium morphology MPheno.ontology MP:0030508 abnormal dental epithelium morphology MP:0030508 any structural anomaly of the epithelium that is part of a developing tooth or dental (enamel) organ UBERON:0003843 increased number of epithelial cell remnants derived from the fragmentation of Hertwig's epithelial root sheath during root development that persist in the periodontal ligament close to the cementum surface 2017-12-22T11:24:57Z increased number of epithelial cells of Malassez increased number of epithelial rests of Malassez MPheno.ontology MP:0030509 increased number of epithelial cell rests of Malassez MP:0030509 increased number of epithelial cell remnants derived from the fragmentation of Hertwig's epithelial root sheath during root development that persist in the periodontal ligament close to the cementum surface CL:0002166 http://dental.pitt.edu/periohistology-glossary#cellrestsofmalassez any structural anomaly of the local thickening that is formed within the primary dental lamina and grows into a solid epithelial tooth bud that invades the underlying mesenchyme; the placodes consist of thickened epithelium and underlying neural crest derived mesenchyme, and they function as the first signaling centers of the tooth 2017-12-22T12:12:26Z abnormal dental anlage morphology abnormal dental placode morphology abnormal dental primordium morphology abnormal odontogenic placode morphology abnormal tooth anlage morphology abnormal tooth primordium morphology MPheno.ontology MP:0030510 The term placode has not been universally adopted in the field of tooth development research; in mouse, stages prior to bud (E11–E12.5) have often been collectively referred to as the epithelial thickening, dental lamina, or simply initiation stage abnormal tooth placode morphology MP:0030510 any structural anomaly of the local thickening that is formed within the primary dental lamina and grows into a solid epithelial tooth bud that invades the underlying mesenchyme; the placodes consist of thickened epithelium and underlying neural crest derived mesenchyme, and they function as the first signaling centers of the tooth GO:0060790 PMID:26755699 https://www.ncbi.nlm.nih.gov/books/NBK27071/ The term placode has not been universally adopted in the field of tooth development research; in mouse, stages prior to bud (E11–E12.5) have often been collectively referred to as the epithelial thickening, dental lamina, or simply initiation stage PMID:24487243 any structural anomaly of the interface that joins two distinct calcified tissues, enamel and dentin; it presents a scalloped contour, with its concave side toward the enamel and the convex side toward the dentin, thought to increase adherence of the enamel to the dentin, especially in areas of occlusal stress; DEJ plays a key role in resisting crack propagation from enamel to dentin 2017-12-22T12:50:08Z abnormal DEJ morphology abnormal amelo-dentinal junction morphology abnormal amelodentinal junction morphology abnormal dentin-enamel junction morphology abnormal dentino-enamel junction morphology MPheno.ontology MP:0030511 abnormal dentinoenamel junction morphology MP:0030511 any structural anomaly of the interface that joins two distinct calcified tissues, enamel and dentin; it presents a scalloped contour, with its concave side toward the enamel and the convex side toward the dentin, thought to increase adherence of the enamel to the dentin, especially in areas of occlusal stress; DEJ plays a key role in resisting crack propagation from enamel to dentin https://books.google.com/books?isbn=1118938313 https://en.wikipedia.org/wiki/Dentinoenamel_junction any structural anomaly of the pyramidal extension at the apical pole of a secretory ameloblast that plays an important role in organizing the enamel crystals into a complex network of rod (prism) and interrod enamel; Tomes' processes interdigitate with the surface of the forming enamel giving it a picket fence appearance and determine the orientation of the newly formed (nucleated) enamel hydroxyapatite crystals; as the secretory stage ends, Tomes' processes are lost and accordingly the last formed layers of enamel are rodless or prismless 2017-12-22T13:05:56Z MPheno.ontology MP:0030512 abnormal Tomes' process morphology MP:0030512 any structural anomaly of the pyramidal extension at the apical pole of a secretory ameloblast that plays an important role in organizing the enamel crystals into a complex network of rod (prism) and interrod enamel; Tomes' processes interdigitate with the surface of the forming enamel giving it a picket fence appearance and determine the orientation of the newly formed (nucleated) enamel hydroxyapatite crystals; as the secretory stage ends, Tomes' processes are lost and accordingly the last formed layers of enamel are rodless or prismless PMID:20016979 https://books.google.com/books?isbn=0199533016 decreased length of the pyramidal extension at the apical pole of a secretory ameloblast that plays an important role in organizing the enamel crystals into a complex network of rod (prism) and interrod enamel 2017-12-22T13:17:04Z short Tomes' processes MPheno.ontology MP:0030513 short Tomes' process MP:0030513 decreased length of the pyramidal extension at the apical pole of a secretory ameloblast that plays an important role in organizing the enamel crystals into a complex network of rod (prism) and interrod enamel https://orcid.org/0000-0002-6490-7723 failure to form the pyramidal extension at the apical pole of a secretory ameloblast that plays an important role in organizing the enamel crystals into a complex network of rod (prism) and interrod enamel 2017-12-22T13:19:22Z absent Tomes' processes MPheno.ontology MP:0030514 absent Tomes' process MP:0030514 failure to form the pyramidal extension at the apical pole of a secretory ameloblast that plays an important role in organizing the enamel crystals into a complex network of rod (prism) and interrod enamel https://orcid.org/0000-0002-6490-7723 morphological changes resulting from pathological death of periodontal ligament tissue; usually due to irreversible damage 2017-12-22T13:27:25Z necrotic periodontal ligament MPheno.ontology MP:0030515 periodontal ligament necrosis MP:0030515 morphological changes resulting from pathological death of periodontal ligament tissue; usually due to irreversible damage https://orcid.org/0000-0002-6490-7723 any structural anomaly of the collar-like band of non-keratinized squamous epithelium that attaches the gingival soft tissue to the tooth surface; the term epithelial attachment refers to the attachment apparatus, i.e. the internal basal lamina and hemidesmosomes, that connects the junctional epithelium (JE) to the tooth surface; in the initiation of periodontitis, JE detaches from the tooth surface and converts gradually, by sprouting laterally and migrating apically, to pathological pocket epithelium 2017-12-22T13:54:10Z MPheno.ontology MP:0030516 abnormal junctional epithelium morphology MP:0030516 any structural anomaly of the collar-like band of non-keratinized squamous epithelium that attaches the gingival soft tissue to the tooth surface; the term epithelial attachment refers to the attachment apparatus, i.e. the internal basal lamina and hemidesmosomes, that connects the junctional epithelium (JE) to the tooth surface; in the initiation of periodontitis, JE detaches from the tooth surface and converts gradually, by sprouting laterally and migrating apically, to pathological pocket epithelium PMID:25911094 http://dental.pitt.edu/junctional-epithelium https://books.google.com/books?isbn=0123977630 partial or complete detachment of the junctional epithelium from the tooth surface, typically leading to periodontal pocket formation 2017-12-22T14:04:20Z MPheno.ontology MP:0030517 detached junctional epithelium MP:0030517 partial or complete detachment of the junctional epithelium from the tooth surface, typically leading to periodontal pocket formation https://books.google.com/books?isbn=0123977630 any structural anomaly of the layer of cuboidal cells located on the periphery of the enamel organ in a developing tooth; this layer is first seen during the bell stage 2018-01-03T09:16:03Z abnormal external dental epithelium morphology abnormal external enamel epithelium morphology abnormal outer enamel epithelium morphology MPheno.ontology MP:0030518 abnormal outer dental epithelium morphology MP:0030518 any structural anomaly of the layer of cuboidal cells located on the periphery of the enamel organ in a developing tooth; this layer is first seen during the bell stage https://en.wikipedia.org/wiki/Outer_enamel_epithelium any structural anomaly of the inner layer of columnar cells of the enamel organ, located on the rim nearest the dental papilla; this layer is first seen during the cap stage of tooth development, in which inner enamel epithelium cells are pre-ameloblast cells; these will differentiate into ameloblasts which are responsible for secretion of enamel during tooth development 2018-01-03T09:31:07Z abnormal inner enamel epithelium morphology abnormal internal dental epithelium morphology abnormal internal enamel epithelium morphology MPheno.ontology MP:0030519 abnormal inner dental epithelium morphology MP:0030519 any structural anomaly of the inner layer of columnar cells of the enamel organ, located on the rim nearest the dental papilla; this layer is first seen during the cap stage of tooth development, in which inner enamel epithelium cells are pre-ameloblast cells; these will differentiate into ameloblasts which are responsible for secretion of enamel during tooth development https://en.wikipedia.org/wiki/Inner_enamel_epithelium localized pockets of fluid that form within or beneath the oral mucosa; may appear as pustules, vesicles, or bullae; color varies according to content of blister, which may include blood, serum, mucin, or suppuration 2018-01-03T10:40:18Z MPheno.ontology MP:0030520 oral mucosa blisters MP:0030520 localized pockets of fluid that form within or beneath the oral mucosa; may appear as pustules, vesicles, or bullae; color varies according to content of blister, which may include blood, serum, mucin, or suppuration https://books.google.com/books?isbn=0470673966 https://medical-dictionary.thefreedictionary.com/blisterform+oral+lesions any structural anomaly of the most cervical part of an enamel organ where the inner enamel epithelium and the outer enamel epithelium merge in a loop, thus delineating the end of the anatomic crown and the site where root formation begins; to form the root region, the cervical loop begins to grow deeper into the surrounding ectomesenchyme of the dental sac, elongating and moving away from the newly completed crown area to enclose more of the dental papilla, forming Hertwig's epithelial root sheath (HERS) 2018-01-03T12:00:30Z MPheno.ontology MP:0030521 abnormal cervical loop morphology MP:0030521 any structural anomaly of the most cervical part of an enamel organ where the inner enamel epithelium and the outer enamel epithelium merge in a loop, thus delineating the end of the anatomic crown and the site where root formation begins; to form the root region, the cervical loop begins to grow deeper into the surrounding ectomesenchyme of the dental sac, elongating and moving away from the newly completed crown area to enclose more of the dental papilla, forming Hertwig's epithelial root sheath (HERS) https://books.google.com/books?isbn=0323290868 https://books.google.com/books?isbn=1455754099 https://www.stembook.org/node/551 any structural anomaly of the network of star-shaped cells found in the core of the dental (enamel) organ between the stratum intermedium and outer enamel epithelium which secrete hydrophilic glycosaminoglycans into the extracellular compartment; the stellate reticulum is most fully developed at the bell stage when intercellular spaces become fluid-filled, presumably related to osmotic effects arising from the high concentration of glycosaminoglycans; the main function of the stellate reticulum is mechanical, protecting the underlying dental tissues against physical disturbance and maintaining tooth shape 2018-01-03T12:17:21Z MPheno.ontology MP:0030522 abnormal stellate reticulum morphology MP:0030522 any structural anomaly of the network of star-shaped cells found in the core of the dental (enamel) organ between the stratum intermedium and outer enamel epithelium which secrete hydrophilic glycosaminoglycans into the extracellular compartment; the stellate reticulum is most fully developed at the bell stage when intercellular spaces become fluid-filled, presumably related to osmotic effects arising from the high concentration of glycosaminoglycans; the main function of the stellate reticulum is mechanical, protecting the underlying dental tissues against physical disturbance and maintaining tooth shape http://dental.pitt.edu/periohistology-glossary https://pocketdentistry.com/10-early-tooth-development-root-development-including-cementogenesis-and-tooth-eruption/ any structural anomaly of the layer of two or three flattened cells located between the inner enamel epithelium and the newly forming cells of the stellate reticulum; it first appears during the early bell stage of tooth development, has a notably high alkaline phosphatase activity, and forms a part of the dental (enamel) organ; this layer, along with the inner enamel epithelium, is responsible for the tooth enamel formation 2018-01-03T12:45:22Z abnormal dental stratum intermedium morphology abnormal tooth stratum intermedium morphology MPheno.ontology MP:0030523 abnormal stratum intermedium morphology MP:0030523 any structural anomaly of the layer of two or three flattened cells located between the inner enamel epithelium and the newly forming cells of the stellate reticulum; it first appears during the early bell stage of tooth development, has a notably high alkaline phosphatase activity, and forms a part of the dental (enamel) organ; this layer, along with the inner enamel epithelium, is responsible for the tooth enamel formation https://en.wikipedia.org/wiki/Stratum_intermedium https://pocketdentistry.com/10-early-tooth-development-root-development-including-cementogenesis-and-tooth-eruption/ pathologic resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms 2018-01-03T13:09:52Z root resorption root resorptions abnormal dental root resorption MPheno.ontology MP:0030524 abnormal tooth root resorption MP:0030524 pathologic resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms MESH:D012391 any structural anomaly of the bilayered epithelial sheath formed from the fusion of the inner and outer enamel epithelia below the level of the cervical margin of the crown; in mammals, HERS is a transient structure and fragments to form the epithelial cell rests of Malassez; HERS cells appear to be involved in the initiation of the root formation process, in root elongation, and in stimulating both cementogenesis and root dentinogenesis 2018-01-03T13:45:08Z abnormal HERS morphology abnormal epithelial root sheath morphology MPheno.ontology MP:0030525 abnormal Hertwig epithelial root sheath morphology MP:0030525 any structural anomaly of the bilayered epithelial sheath formed from the fusion of the inner and outer enamel epithelia below the level of the cervical margin of the crown; in mammals, HERS is a transient structure and fragments to form the epithelial cell rests of Malassez; HERS cells appear to be involved in the initiation of the root formation process, in root elongation, and in stimulating both cementogenesis and root dentinogenesis PMID:19576204 https://en.wikipedia.org/wiki/Epithelial_root_sheath any structural anomaly of the transient structure of the dental (enamel) organ present at the early cap stage of molar tooth development; the enamel cord is a strand of epithelial cells that runs from (links) the enamel knot to the outer dental epithelial cells, dividing the dental organ into two parts 2018-01-05T12:24:39Z abnormal dental cord morphology abnormal enamel septum morphology MPheno.ontology MP:0030526 abnormal enamel cord morphology MP:0030526 any structural anomaly of the transient structure of the dental (enamel) organ present at the early cap stage of molar tooth development; the enamel cord is a strand of epithelial cells that runs from (links) the enamel knot to the outer dental epithelial cells, dividing the dental organ into two parts ISBN:978-0-12-597951-1 https://en.wikipedia.org/wiki/Enamel_cord missing the transient structure of the dental (enamel) organ that is normally present at the early cap stage of molar tooth development; the enamel cord is a strand of epithelial cells that runs from (links) the enamel knot to the outer dental epithelial cells, dividing the dental organ into two parts 2018-01-05T12:32:35Z absent dental cord absent enamel septum MPheno.ontology MP:0030527 absent enamel cord MP:0030527 missing the transient structure of the dental (enamel) organ that is normally present at the early cap stage of molar tooth development; the enamel cord is a strand of epithelial cells that runs from (links) the enamel knot to the outer dental epithelial cells, dividing the dental organ into two parts ISBN:978-0-12-597951-1 https://en.wikipedia.org/wiki/Enamel_cord https://orcid.org/0000-0002-6490-7723 any structural anomaly of a zone of skin that is part of the cervical (neck) region 2018-01-05T12:42:27Z MPheno.ontology MP:0030528 abnormal neck skin morphology MP:0030528 any structural anomaly of a zone of skin that is part of the cervical (neck) region UBERON:0001417 any anomaly in a zone of skin that is part of the head 2018-01-05T13:00:57Z MPheno.ontology MP:0030529 abnormal head skin morphology MP:0030529 any anomaly in a zone of skin that is part of the head UBERON:0001084 any anomaly in a zone of skin that is part of an outer ear 2018-01-05T13:11:53Z abnormal ear skin morphology abnormal external ear skin morphology MPheno.ontology MP:0030530 abnormal outer ear skin morphology MP:0030530 any anomaly in a zone of skin that is part of an outer ear UBERON:0001459 any anomaly in a zone of skin that is part of the face 2018-01-05T13:34:51Z abnormal face skin morphology MPheno.ontology MP:0030531 abnormal facial skin morphology MP:0030531 any anomaly in a zone of skin that is part of the face UBERON:1000021 any anomaly in a zone of skin that is part of the periorbital region of the face 2018-01-05T13:43:17Z MPheno.ontology MP:0030532 abnormal periorbital skin morphology MP:0030532 any anomaly in a zone of skin that is part of the periorbital region of the face UBERON:0016462 any anomaly in a zone of skin that is part of the snout 2018-01-05T13:53:53Z MPheno.ontology MP:0030533 abnormal snout skin morphology MP:0030533 any anomaly in a zone of skin that is part of the snout UBERON:1000015 any anomaly in a zone of skin that is part of the forehead 2018-01-05T14:00:22Z MPheno.ontology MP:0030534 abnormal forehead skin morphology MP:0030534 any anomaly in a zone of skin that is part of the forehead UBERON:0016475 any structural anomaly of the condensed mesenchymal band formed as migratory myoblasts arising from the myotomes of the occipital somites coalesce beside somite four and extend ventrally as an elongated column; the hypoglossal cord eventually becomes located ventral to the caudal region of the pharynx; most of the myoblasts of the hypoglossal cord remain ventral and shift cranially to form the intrinsic and extrinsic tongue muscles; some of these myoblasts shift dorsally to form the intrinsic laryngeal muscles 2018-01-12T13:34:30Z MPheno.ontology MP:0030535 abnormal hypoglossal cord morphology MP:0030535 any structural anomaly of the condensed mesenchymal band formed as migratory myoblasts arising from the myotomes of the occipital somites coalesce beside somite four and extend ventrally as an elongated column; the hypoglossal cord eventually becomes located ventral to the caudal region of the pharynx; most of the myoblasts of the hypoglossal cord remain ventral and shift cranially to form the intrinsic and extrinsic tongue muscles; some of these myoblasts shift dorsally to form the intrinsic laryngeal muscles https://books.google.com/books?isbn=1455727911 any anomaly of the space or gap between two adjacent teeth in the same dental arch; in rodents, the diastema is the toothless (edentulous) region that normally separates a continuously growing single incisor from a segment of three molars in each quadrant of the adult jaw; although tooth primordia develop in the rodent embryonic diastema, they undergo apoptosis and regress to ensure that this region remains tooth-free 2018-01-12T13:49:09Z abnormal dental diastema morphology abnormal interdental space morphology MPheno.ontology MP:0030536 abnormal diastema morphology MP:0030536 any anomaly of the space or gap between two adjacent teeth in the same dental arch; in rodents, the diastema is the toothless (edentulous) region that normally separates a continuously growing single incisor from a segment of three molars in each quadrant of the adult jaw; although tooth primordia develop in the rodent embryonic diastema, they undergo apoptosis and regress to ensure that this region remains tooth-free PMID:16890158 PMID:24495023 https://en.wikipedia.org/wiki/Diastema any structural anomaly of the midline cellular cord formed from the migration of mesenchymal cells from the primitive knot; the notochordal process is a mesodermal hollow tube structure that grows cranially between the ectoderm and the endoderm until it reaches the prechordal plate 2018-01-12T14:11:56Z MPheno.ontology MP:0030537 abnormal notochordal process morphology MP:0030537 any structural anomaly of the midline cellular cord formed from the migration of mesenchymal cells from the primitive knot; the notochordal process is a mesodermal hollow tube structure that grows cranially between the ectoderm and the endoderm until it reaches the prechordal plate UBERON:0006268 http://howmed.net/anatomy/embryology/3rd-week-of-development-trilaminar-germ-disc/ https://medical-dictionary.thefreedictionary.com/head+process any structural anomaly of the dorsal part of the notochordal process when the ventral portion breaks down; it is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube; the folding off of the notochordal plate gives rise to the notochord 2018-01-12T14:19:48Z MPheno.ontology MP:0030538 abnormal notochordal plate morphology MP:0030538 any structural anomaly of the dorsal part of the notochordal process when the ventral portion breaks down; it is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube; the folding off of the notochordal plate gives rise to the notochord UBERON:0006267 any structural anomaly of the paraxial mesoderm located on either side of the neural tube, anterior to the occipital somites; in the head region, the unsegmented cranial paraxial mesoderm contributes to the developing heart, specific skull bones and skeletal muscles of the head and neck region 2018-01-12T14:26:45Z abnormal cephalic paraxial mesenchyme morphology abnormal cephalic paraxial mesoderm morphology abnormal cranial paraxial mesenchyme morphology abnormal cranial paraxial mesoderm morphology abnormal head paraxial mesenchyme morphology MPheno.ontology MP:0030539 abnormal head paraxial mesoderm morphology MP:0030539 any structural anomaly of the paraxial mesoderm located on either side of the neural tube, anterior to the occipital somites; in the head region, the unsegmented cranial paraxial mesoderm contributes to the developing heart, specific skull bones and skeletal muscles of the head and neck region UBERON:0009617 https://books.google.com/books?isbn=0123849527 https://discovery.lifemapsc.com/in-vivo-development/paraxial-mesoderm abnormal alignment, positioning, or spacing of the teeth 2018-01-12T15:05:06Z abnormal dental position abnormal teeth spacing abnormality of alignment of teeth abnormality of teeth spacing crooked teeth malaligned teeth malposition of teeth malpositioned teeth misalignment of teeth MPheno.ontology MP:0030540 misaligned teeth MP:0030540 abnormal alignment, positioning, or spacing of the teeth HP:0000692 abnormal alignment of the upper and lower incisor teeth, usually resulting in malocclusion; in gnawing rodents, where incisors are rootless and grow continually, signs of incisor malocclusion include uneven wear patterns, sloping of the cutting edges, fractured teeth, altered pigmentation, and obvious pathological overgrowth of the incisors 2018-01-12T15:24:26Z abnormal alignment of incisors crooked incisors incisor misalignment MPheno.ontology MP:0030541 misaligned incisors MP:0030541 abnormal alignment of the upper and lower incisor teeth, usually resulting in malocclusion; in gnawing rodents, where incisors are rootless and grow continually, signs of incisor malocclusion include uneven wear patterns, sloping of the cutting edges, fractured teeth, altered pigmentation, and obvious pathological overgrowth of the incisors HP:0011062 PMID:19622764 https://books.google.com/books?isbn=0323394302 any anomaly in the process whose specific outcome is the formation of dentin, the hard portion of the tooth surrounding the pulp, covered by enamel on the crown and cementum on the root; dentinogenesis begins prior to enamel formation and is initiated by the odontoblasts of the dental pulp; dentin is derived from the dental papilla of the tooth germ; after apposition of predentin and maturation into dentin, the cell bodies of the odontoblasts remain in the pulp inside the tooth, along its outer wall; unlike enamel, dentin continues to form throughout life and can be initiated in response to stimuli, such as tooth decay or attrition 2018-01-19T13:47:52Z abnormal dentin formation abnormal dentine development abnormal dentine formation abnormal dentinogenesis MPheno.ontology MP:0030542 abnormal dentin development MP:0030542 any anomaly in the process whose specific outcome is the formation of dentin, the hard portion of the tooth surrounding the pulp, covered by enamel on the crown and cementum on the root; dentinogenesis begins prior to enamel formation and is initiated by the odontoblasts of the dental pulp; dentin is derived from the dental papilla of the tooth germ; after apposition of predentin and maturation into dentin, the cell bodies of the odontoblasts remain in the pulp inside the tooth, along its outer wall; unlike enamel, dentin continues to form throughout life and can be initiated in response to stimuli, such as tooth decay or attrition GO:0097187 https://en.wikipedia.org/wiki/Dentin any structural anomaly of the initial type I collagen-rich unmineralized extracellular matrix synthesized and secreted by odontoblasts and located at the dentin-pulp interface; predentin is converted to dentin when hydroxyapatite crystals are deposited on the predentin 2018-01-19T14:15:11Z abnormal pre-dentin morphology abnormal pre-dentine morphology abnormal predentine morphology MPheno.ontology MP:0030543 abnormal predentin morphology MP:0030543 any structural anomaly of the initial type I collagen-rich unmineralized extracellular matrix synthesized and secreted by odontoblasts and located at the dentin-pulp interface; predentin is converted to dentin when hydroxyapatite crystals are deposited on the predentin https://books.google.com/books?isbn=0470958332 any anomaly in the process whose specific outcome is the formation of dental enamel, the hard outer coating of the exposed portion of the tooth; amelogenesis occurs after the first establishment of dentin, via cells known as ameloblasts, and can generally be divided into two broad stages: (i) a secretory stage that involves proteins and an organic matrix forming a partially mineralized enamel and (ii) a maturation stage which completes enamel mineralization 2018-01-19T14:29:36Z abnormal amelogenesis abnormal enamel formation MPheno.ontology MP:0030544 abnormal enamel development MP:0030544 any anomaly in the process whose specific outcome is the formation of dental enamel, the hard outer coating of the exposed portion of the tooth; amelogenesis occurs after the first establishment of dentin, via cells known as ameloblasts, and can generally be divided into two broad stages: (i) a secretory stage that involves proteins and an organic matrix forming a partially mineralized enamel and (ii) a maturation stage which completes enamel mineralization GO:0097186 https://en.wikipedia.org/wiki/Tooth_enamel any structural anomaly of the acellular layer of cementum, a living tissue that does not incorporate cells (cementocytes) into its structure, consisting only of extracellular matrix components and mineral; acellular cementum is the first cementum deposited on the dentin of the forming root, and is predominantly found on the cervical/coronal portion of the tooth root; it anchors the primary collagen fibers of the periodontal ligament, providing a strong attachment between the tooth and surrounding alveolar bone 2018-01-19T14:53:32Z abnormal acellular extrinsic fiber cementum morphology abnormal primary cementum morphology MPheno.ontology MP:0030545 abnormal acellular cementum morphology MP:0030545 any structural anomaly of the acellular layer of cementum, a living tissue that does not incorporate cells (cementocytes) into its structure, consisting only of extracellular matrix components and mineral; acellular cementum is the first cementum deposited on the dentin of the forming root, and is predominantly found on the cervical/coronal portion of the tooth root; it anchors the primary collagen fibers of the periodontal ligament, providing a strong attachment between the tooth and surrounding alveolar bone PMID:27029548 http://www.7med-pdf.com/1020q/13530-structure-of-cementum.html https://en.wikipedia.org/wiki/Cementum any structural anomaly of the layer of cementum that contains cementocytes in lacunae; it is most abundant on the apical portion of the tooth root and in the furcation areas of multirooted teeth, and has a role in posteruptive adjustment of tooth position 2018-01-19T15:02:32Z abnormal cellular intrinsic fiber cementum morphology abnormal secondary cementum morphology MPheno.ontology MP:0030546 abnormal cellular cementum morphology MP:0030546 any structural anomaly of the layer of cementum that contains cementocytes in lacunae; it is most abundant on the apical portion of the tooth root and in the furcation areas of multirooted teeth, and has a role in posteruptive adjustment of tooth position PMID:27029548 http://dental.pitt.edu/periohistology-glossary http://www.7med-pdf.com/1020q/13530-structure-of-cementum.html https://en.wikipedia.org/wiki/Cementum any anomaly in the process whose specific outcome is the formation of dental cementum, a bone-like rigid connective tissue covering the root of a tooth 2018-01-19T15:10:32Z abnormal cementogenesis abnormal cementum formation MPheno.ontology MP:0030547 abnormal cementum development MP:0030547 any anomaly in the process whose specific outcome is the formation of dental cementum, a bone-like rigid connective tissue covering the root of a tooth https://orcid.org/0000-0002-6490-7723 any structural anomaly of the organic matrix secreted by cementoblasts, which forms the most recent unmineralized layer covering the surface of cellular cementum 2018-01-19T15:25:54Z abnormal pre-cementum morphology abnormal uncalcified cementum morphology MPheno.ontology MP:0030548 abnormal cementoid morphology MP:0030548 any structural anomaly of the organic matrix secreted by cementoblasts, which forms the most recent unmineralized layer covering the surface of cellular cementum PMID:27029548 https://books.google.com/books?isbn=0323058442 https://medicine.academic.ru/110777/cementoid any structural anomaly of the osteocyte-like network of lacunae and canaliculi housing the cementocytes and their cytoplasmic processes within the cellular cementum; although cementocytes resemble osteocytes, they show profound differences in terms of dendrite number, lacunar shape, and canalicular network density, suggesting less communication between, to, and from cementocytes compared with osteocytes 2018-01-19T15:55:54Z abnormal cementocyte lacuno-canalicular system morphology MPheno.ontology MP:0030549 abnormal cementocyte lacunocanalicular system morphology MP:0030549 any structural anomaly of the osteocyte-like network of lacunae and canaliculi housing the cementocytes and their cytoplasmic processes within the cellular cementum; although cementocytes resemble osteocytes, they show profound differences in terms of dendrite number, lacunar shape, and canalicular network density, suggesting less communication between, to, and from cementocytes compared with osteocytes PMID:26274352 PMID:27029548 any structural anomaly of the large cuboidal cells differentiated from fibroblasts of the dental follicle (or possibly from Hertwig's epithelial root sheath cells by epithelial-mesenchymal transformation) that, during formation of cellular cementum, secrete a layer of unmineralized extracellular matrix called cementoid; as cementoid deposition progresses, some cementoblasts become embedded in cementoid matrix and become cementocytes 2018-01-19T16:05:14Z MPheno.ontology MP:0030550 abnormal cementoblast morphology MP:0030550 any structural anomaly of the large cuboidal cells differentiated from fibroblasts of the dental follicle (or possibly from Hertwig's epithelial root sheath cells by epithelial-mesenchymal transformation) that, during formation of cellular cementum, secrete a layer of unmineralized extracellular matrix called cementoid; as cementoid deposition progresses, some cementoblasts become embedded in cementoid matrix and become cementocytes PMID:27029548 https://books.google.com/books?isbn=1118342917 deviation from the average number of the large cuboidal cells differentiated from fibroblasts of the dental follicle (or possibly from Hertwig's epithelial root sheath cells by epithelial-mesenchymal transformation) that, during formation of cellular cementum, secrete a layer of unmineralized extracellular matrix called cementoid; as cementoid deposition progresses, some cementoblasts become embedded in cementoid matrix and become cementocytes 2018-01-19T16:17:34Z MPheno.ontology MP:0030551 abnormal cementoblast number MP:0030551 deviation from the average number of the large cuboidal cells differentiated from fibroblasts of the dental follicle (or possibly from Hertwig's epithelial root sheath cells by epithelial-mesenchymal transformation) that, during formation of cellular cementum, secrete a layer of unmineralized extracellular matrix called cementoid; as cementoid deposition progresses, some cementoblasts become embedded in cementoid matrix and become cementocytes PMID:27029548 https://books.google.com/books?isbn=1118342917 fewer than the expected number of the large cuboidal cells differentiated from fibroblasts of the dental follicle (or possibly from Hertwig’s epithelial root sheath cells by epithelial-mesenchymal transformation) that, during formation of cellular cementum, secrete a layer of unmineralized extracellular matrix called cementoid; as cementoid deposition progresses, some cementoblasts become embedded in cementoid matrix and become cementocytes 2018-01-19T16:24:36Z reduced cementoblast number MPheno.ontology MP:0030552 decreased cementoblast number MP:0030552 fewer than the expected number of the large cuboidal cells differentiated from fibroblasts of the dental follicle (or possibly from Hertwig’s epithelial root sheath cells by epithelial-mesenchymal transformation) that, during formation of cellular cementum, secrete a layer of unmineralized extracellular matrix called cementoid; as cementoid deposition progresses, some cementoblasts become embedded in cementoid matrix and become cementocytes https://orcid.org/0000-0002-6490-7723 greater than the expected number of the large cuboidal cells differentiated from fibroblasts of the dental follicle (or possibly from Hertwig’s epithelial root sheath cells by epithelial-mesenchymal transformation) that, during formation of cellular cementum, secrete a layer of unmineralized extracellular matrix called cementoid; as cementoid deposition progresses, some cementoblasts become embedded in cementoid matrix and become cementocytes 2018-01-19T16:31:06Z MPheno.ontology MP:0030553 increased cementoblast number MP:0030553 greater than the expected number of the large cuboidal cells differentiated from fibroblasts of the dental follicle (or possibly from Hertwig’s epithelial root sheath cells by epithelial-mesenchymal transformation) that, during formation of cellular cementum, secrete a layer of unmineralized extracellular matrix called cementoid; as cementoid deposition progresses, some cementoblasts become embedded in cementoid matrix and become cementocytes https://orcid.org/0000-0002-6490-7723 any structural anomaly of an apparently terminally differentiated cementoblast that has become embedded in the cellular cementum in a small cavity called lacuna and that extends long cytoplasmic (dendritic) processes away from the cell body toward other cementocytes and neighboring cells in small channels called canaliculi 2018-01-19T16:40:26Z MPheno.ontology MP:0030554 abnormal cementocyte morphology MP:0030554 any structural anomaly of an apparently terminally differentiated cementoblast that has become embedded in the cellular cementum in a small cavity called lacuna and that extends long cytoplasmic (dendritic) processes away from the cell body toward other cementocytes and neighboring cells in small channels called canaliculi PMID:27029548 any structural anomaly of the small cavity within the cellular cementum that is occupied by a cementocyte cell body; cementocyte lacunae are described as larger and more irregular in size and shape (from oval to tubular) and with rougher walls than the typical ellipsoid osteocyte lacunae; occasionally, empty lacunae or lacunae containing more than one cell are observed in cellular cementum, not typically observed in osteocyte lacunae 2018-01-19T17:02:33Z MPheno.ontology MP:0030555 abnormal cementocyte lacuna morphology MP:0030555 any structural anomaly of the small cavity within the cellular cementum that is occupied by a cementocyte cell body; cementocyte lacunae are described as larger and more irregular in size and shape (from oval to tubular) and with rougher walls than the typical ellipsoid osteocyte lacunae; occasionally, empty lacunae or lacunae containing more than one cell are observed in cellular cementum, not typically observed in osteocyte lacunae PMID:26274352 PMID:27029548 any structural anomaly of the slender canals situated between lacunae of the cellular cementum where cementocyte cytoplasmic (dendritic) processes reside; cementocyte canaliculi appear to be less organized, more sparse, and do they radiate outward, with the majority of them oriented toward the vascular periodontal ligament for nutrition, unlike osteocyte canaliculi which are radiating, more dense and arranged in a complex network 2018-01-19T17:08:54Z abnormal cementocyte canaliculi morphology MPheno.ontology MP:0030556 abnormal cementocyte canaliculus morphology MP:0030556 any structural anomaly of the slender canals situated between lacunae of the cellular cementum where cementocyte cytoplasmic (dendritic) processes reside; cementocyte canaliculi appear to be less organized, more sparse, and do they radiate outward, with the majority of them oriented toward the vascular periodontal ligament for nutrition, unlike osteocyte canaliculi which are radiating, more dense and arranged in a complex network PMID:27029548 https://books.google.com/books?isbn=8131238016 any structural anomaly of the long, slender cytoplasmic processes that extend from the cementocyte cell body, run along narrow canaliculi, and are linked to neighboring cementocytes processes via gap junctions; cementocytes harbor fewer dendritic processes than osteocytes 2018-01-19T17:16:13Z abnormal cementocyte cytoplasmic process morphology abnormal cementocyte dendrite morphology abnormal cementocyte process morphology MPheno.ontology MP:0030557 abnormal cementocyte dendritic process morphology MP:0030557 any structural anomaly of the long, slender cytoplasmic processes that extend from the cementocyte cell body, run along narrow canaliculi, and are linked to neighboring cementocytes processes via gap junctions; cementocytes harbor fewer dendritic processes than osteocytes PMID:27029548 https://books.google.com/books?isbn=8131238016 failure to form the section of the pharynx that lies above the soft palate 2018-02-27T09:50:22Z MPheno.ontology MP:0030558 absent nasopharynx MP:0030558 failure to form the section of the pharynx that lies above the soft palate https://orcid.org/0000-0002-6490-7723 any structural anomaly of the portion of the dental pulp cavity within the root of a tooth 2018-02-27T10:04:15Z abnormal pulp canal morphology abnormal radicular pulp morphology abnormal root canal morphology abnormal tooth pulp canal morphology MPheno.ontology MP:0030559 abnormal dental pulp canal morphology MP:0030559 any structural anomaly of the portion of the dental pulp cavity within the root of a tooth https://www.ncbi.nlm.nih.gov/mesh/68003786 abnormal radicular pulp morphology PMID:38105557 increased size of the portion of the dental pulp cavity within the root of a tooth 2018-02-27T10:09:26Z enlarged dental pulp canals enlarged pulp canals enlarged radicular pulp enlarged root canals enlarged tooth pulp canals increased dental pulp canal size increased radicular pulp size large pulp canals MPheno.ontology MP:0030560 enlarged dental pulp canal MP:0030560 increased size of the portion of the dental pulp cavity within the root of a tooth https://orcid.org/0000-0002-6490-7723 https://www.ncbi.nlm.nih.gov/mesh/68003786 any structural anomaly of the portion of the dental pulp cavity within the crown of a tooth 2018-02-27T10:27:45Z abnormal coronal pulp chamber morphology abnormal tooth pulp chamber morphology MPheno.ontology MP:0030561 abnormal dental pulp chamber morphology MP:0030561 any structural anomaly of the portion of the dental pulp cavity within the crown of a tooth https://medical-dictionary.thefreedictionary.com/pulp+chamber https://www.ncbi.nlm.nih.gov/mesh/68003786 abnormal coronal pulp chamber morphology PMID:38105557 increased size of the portion of the dental pulp cavity within the crown of a tooth 2018-02-27T10:37:10Z enlarged coronal pulp chamber enlarged dental pulp chambers enlarged pulp chambers enlarged tooth pulp chambers increased coronal pulp chamber size increased dental pulp chamber size large pulp chambers MPheno.ontology MP:0030562 enlarged dental pulp chamber MP:0030562 increased size of the portion of the dental pulp cavity within the crown of a tooth https://orcid.org/0000-0002-6490-7723 partial or complete loss of attachment of the periodontal ligament to the cementum covering the root of a tooth 2018-02-27T10:54:14Z PDL detachment cementum-PDL detachment detached PDL periodontal ligament detachment MPheno.ontology MP:0030563 detached periodontal ligament MP:0030563 partial or complete loss of attachment of the periodontal ligament to the cementum covering the root of a tooth https://orcid.org/0000-0002-6490-7723 increased thickness of the outer, dense layer of the myocardium 2018-04-20T10:01:02Z thick myocardial compact layer MPheno.ontology MP:0030564 thick myocardium compact layer MP:0030564 increased thickness of the outer, dense layer of the myocardium PMID:26526197 https://orcid.org/0000-0002-6490-7723 reduced concentration of ammonia or its compounds in the blood 2018-04-26T07:52:56Z hypoammonaemia hypoammonemia reduced circulating ammonia level decreased plasma ammonia level reduced plasma ammonia level MPheno.ontology MP:0030565 decreased circulating ammonia level MP:0030565 reduced concentration of ammonia or its compounds in the blood PMID:25041126 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the dark-staining region of a sarcomere that is situated between two I bands and marked by partial overlapping of thin (actin) and thick (myosin) filaments; an A band is anisotropic to polarized light and contains the entire length of a single thick filament; its center is traversed by the paler H zone, which in turn contains the M line 2018-05-10T07:16:22Z abnormal A band abnormal A disc abnormal A disk abnormal A-band abnormal Q disc abnormal Q disk abnormal anisotropic band abnormal anisotropic disc abnormal anisotropic disk abnormal transverse disc abnormal transverse disk abnormal A-band morphology MPheno.ontology MP:0030566 abnormal A band morphology MP:0030566 any structural anomaly of the dark-staining region of a sarcomere that is situated between two I bands and marked by partial overlapping of thin (actin) and thick (myosin) filaments; an A band is anisotropic to polarized light and contains the entire length of a single thick filament; its center is traversed by the paler H zone, which in turn contains the M line GO:0031672 https://en.wikipedia.org/wiki/Sarcomere https://medical-dictionary.thefreedictionary.com/A+band any structural anomaly of the light band on each side of the Z disc (aka Z line), comprising a region of the sarcomere where thin (actin) filaments are not overlapped by thick (myosin) filaments; the I band is isotropic to polarized light and contains actin, troponin, and tropomyosin; each sarcomere includes half of an I band at each end 2018-05-10T08:02:41Z abnormal I band abnormal I disc abnormal I disk abnormal J disc abnormal J disk abnormal isotropic band abnormal isotropic disc abnormal isotropic disk abnormal I-band morphology MPheno.ontology MP:0030567 abnormal I band morphology MP:0030567 any structural anomaly of the light band on each side of the Z disc (aka Z line), comprising a region of the sarcomere where thin (actin) filaments are not overlapped by thick (myosin) filaments; the I band is isotropic to polarized light and contains actin, troponin, and tropomyosin; each sarcomere includes half of an I band at each end GO:0031674 https://en.wikipedia.org/wiki/Sarcomere any structural anomaly of the relatively pale zone traversing the center of the A band of a sarcomere, visible in relaxed muscle fibers; it consists of the central portion of thick (myosin) filaments that are not overlapped by thin (actin) filaments; within the H zone is a thin dark M line, the attachment site for the thick filaments in the center of the sarcomere 2018-05-10T08:23:49Z abnormal H band abnormal H disc abnormal H disk abnormal H zone abnormal H-zone morphology MPheno.ontology MP:0030568 abnormal H zone morphology MP:0030568 any structural anomaly of the relatively pale zone traversing the center of the A band of a sarcomere, visible in relaxed muscle fibers; it consists of the central portion of thick (myosin) filaments that are not overlapped by thin (actin) filaments; within the H zone is a thin dark M line, the attachment site for the thick filaments in the center of the sarcomere GO:0031673 https://en.wikipedia.org/wiki/Sarcomere a renal lesion characterized by glomerular endothelial swelling with glomerular hypertrophy, obliteration of endothelial fenestrae, and narrowing or occlusion of the capillary lumens 2018-05-11T11:31:29Z glomerular endotheliosis MPheno.ontology MP:0030569 glomerular capillary endotheliosis MP:0030569 a renal lesion characterized by glomerular endothelial swelling with glomerular hypertrophy, obliteration of endothelial fenestrae, and narrowing or occlusion of the capillary lumens PMID:14511965 PMID:17634433 any structural anomaly of the tubular connection that is found between the epidermal surface and the most distal part of the hair follicle inner root sheath and contains the hair shaft 2018-05-11T12:07:44Z abnormal hair canal morphology abnormal pilary canal morphology MPheno.ontology MP:0030570 abnormal piliary canal morphology MP:0030570 any structural anomaly of the tubular connection that is found between the epidermal surface and the most distal part of the hair follicle inner root sheath and contains the hair shaft PMID:19211055 UBERON:0035610 abnormal hair canal morphology PMID:20882038 abnormal pilary canal morphology PMID:20882038 PMID:29056331 stretched or widened aperture of the luminal space of the tubular connection that is found between the epidermal surface and the most distal part of the hair follicle inner root sheath and contains the hair shaft; the infundibulum is the opening of the hair canal to the skin surface 2018-05-11T12:21:16Z dilated hair canal dilated hair canals dilated pilary canal dilated pilary canals dilated piliary canals hair canal dilation pilary canal dilation piliary canal dilation MPheno.ontology MP:0030571 dilated piliary canal MP:0030571 stretched or widened aperture of the luminal space of the tubular connection that is found between the epidermal surface and the most distal part of the hair follicle inner root sheath and contains the hair shaft; the infundibulum is the opening of the hair canal to the skin surface PMID:11171393 https://orcid.org/0000-0002-6490-7723 any structural anomaly of an epidermal invagination consisting of hair, hair follicle, arrector pili muscle and sebaceous gland 2018-05-16T11:07:16Z abnormal fabrica pilosebacea morphology abnormal pilo-sebaceous apparatus morphology abnormal pilo-sebaceous unit morphology abnormal pilosebaceous apparatus morphology MPheno.ontology MP:0030572 abnormal pilosebaceous unit morphology MP:0030572 any structural anomaly of an epidermal invagination consisting of hair, hair follicle, arrector pili muscle and sebaceous gland UBERON:0011932 https://en.wiktionary.org/wiki/pilosebaceous_unit anomaly in the ability of any hair follicle cell population to undergo expansion by cell division 2018-05-16T12:29:40Z MPheno.ontology MP:0030573 abnormal hair follicle cell proliferation MP:0030573 anomaly in the ability of any hair follicle cell population to undergo expansion by cell division https://orcid.org/0000-0002-6490-7723 increase in the expansion rate of a hair follicle cell population by cell division 2018-05-16T13:04:57Z MPheno.ontology MP:0030574 increased hair follicle cell proliferation MP:0030574 increase in the expansion rate of a hair follicle cell population by cell division https://orcid.org/0000-0002-6490-7723 reduction in the expansion rate of a hair follicle cell population by cell division 2018-05-16T13:07:09Z reduced hair follicle cell proliferation MPheno.ontology MP:0030575 decreased hair follicle cell proliferation MP:0030575 reduction in the expansion rate of a hair follicle cell population by cell division https://orcid.org/0000-0002-6490-7723 any anomaly in the adhesive properties of keratinocytes, resulting in abnormal cell to cell and cell to extracellular matrix (ECM) interactions 2018-05-18T11:17:42Z MPheno.ontology MP:0030576 abnormal keratinocyte adhesion MP:0030576 any anomaly in the adhesive properties of keratinocytes, resulting in abnormal cell to cell and cell to extracellular matrix (ECM) interactions https://orcid.org/0000-0002-6490-7723 increased ability of a keratinocyte to adhere to another cell or to a non-cellular component of the environment 2018-05-18T11:22:31Z MPheno.ontology MP:0030577 increased keratinocyte adhesion MP:0030577 increased ability of a keratinocyte to adhere to another cell or to a non-cellular component of the environment https://orcid.org/0000-0002-6490-7723 decreased ability of a keratinocyte to adhere to another cell or to a non-cellular component of the environment 2018-05-18T11:30:51Z reduced keratinocyte adhesion MPheno.ontology MP:0030578 decreased keratinocyte adhesion MP:0030578 decreased ability of a keratinocyte to adhere to another cell or to a non-cellular component of the environment https://orcid.org/0000-0002-6490-7723 a congenital fissure of both the thoracic and abdominal walls 2018-05-18T11:42:22Z thoraco-abdominoschisis thoraco-gastroschisis thoracoabdominal schisis thoracoceloschisis thoracocoeloschisis thoracogastroschisis MPheno.ontology MP:0030579 thoracoabdominoschisis MP:0030579 a congenital fissure of both the thoracic and abdominal walls https://www.ncbi.nlm.nih.gov/medgen/672583 any structural anomaly of any of the local epithelial thickenings in the embryonic epidermis that define the location of the hair follicles; in mouse, embryonic hair follicle development is initiated by the first dermal signal, originating from dermal fibroblasts, leading to the formation of placodes at ~E13.5; each placode sends a message back to underlying dermis, which results in the formation of an aggregate of mesenchymal cells known as the dermal condensate; the placodes then grow downward, giving rise to the hair germ by E15.5, the hair peg by E17.5, and the bulbous hair peg by E18.5 2018-05-18T11:56:31Z abnormal hair placode morphology MPheno.ontology MP:0030580 abnormal hair follicle placode morphology MP:0030580 any structural anomaly of any of the local epithelial thickenings in the embryonic epidermis that define the location of the hair follicles; in mouse, embryonic hair follicle development is initiated by the first dermal signal, originating from dermal fibroblasts, leading to the formation of placodes at ~E13.5; each placode sends a message back to underlying dermis, which results in the formation of an aggregate of mesenchymal cells known as the dermal condensate; the placodes then grow downward, giving rise to the hair germ by E15.5, the hair peg by E17.5, and the bulbous hair peg by E18.5 UBERON:0005086 https://discovery.lifemapsc.com/in-vivo-development/hair/hair-follicle absence of the local epithelial thickening in the embryonic epidermis that normally gives rise to the hair follicle bud (aka hair germ) 2018-05-18T12:03:03Z absent hair placode MPheno.ontology MP:0030581 absent hair follicle placode MP:0030581 absence of the local epithelial thickening in the embryonic epidermis that normally gives rise to the hair follicle bud (aka hair germ) GO:0060789 https://orcid.org/0000-0002-6490-7723 any anomaly in the developmental process in which a hair placode forms; in mouse, hair placode formation is initiated at ~E13.5 in response to the first dermal signal originating from dermal fibroblasts; the resulting primary hair placode cells signal to the underlying dermis, triggering formation of dermal condensates that will coordinate further differentiation of hair-forming cells; hair placode formation progresses through 3 successive waves (1) primary hair placodes form at E14.5 and produce guard hair, (2) secondary hair placodes form at E16-17 and produce awl hair, and (3) the third wave of hair follicle induction produces tertiary placodes and generate zig-zag hair 2018-05-18T12:49:51Z abnormal hair placode formation MPheno.ontology MP:0030582 abnormal hair follicle placode formation MP:0030582 any anomaly in the developmental process in which a hair placode forms; in mouse, hair placode formation is initiated at ~E13.5 in response to the first dermal signal originating from dermal fibroblasts; the resulting primary hair placode cells signal to the underlying dermis, triggering formation of dermal condensates that will coordinate further differentiation of hair-forming cells; hair placode formation progresses through 3 successive waves (1) primary hair placodes form at E14.5 and produce guard hair, (2) secondary hair placodes form at E16-17 and produce awl hair, and (3) the third wave of hair follicle induction produces tertiary placodes and generate zig-zag hair GO:0060789 https://discovery.lifemapsc.com/in-vivo-development/hair/hair-follicle/primary-hair-placode-cells any structural anomaly of the solid column of keratinocytes growing into the dermis during embryonic hair follicle development; the concave proximal end starts to encase the dermal condensate, the future dermal papilla 2018-05-18T13:06:41Z abnormal hair peg morphology MPheno.ontology MP:0030583 abnormal hair follicle peg morphology MP:0030583 any structural anomaly of the solid column of keratinocytes growing into the dermis during embryonic hair follicle development; the concave proximal end starts to encase the dermal condensate, the future dermal papilla UBERON:0035611 acquired diminution of skin tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes 2018-05-29T07:37:19Z atrophic skin MPheno.ontology MP:0030584 skin atrophy MP:0030584 acquired diminution of skin tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 increased sensitivity to amphetamine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response 2018-05-29T07:56:25Z enhanced behavioural response to amphetamine MPheno.ontology MP:0030585 enhanced behavioral response to amphetamine MP:0030585 increased sensitivity to amphetamine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0002-6490-7723 decreased sensitivity to amphetamine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response 2018-05-29T08:00:33Z impaired behavioural response to amphetamine MPheno.ontology MP:0030586 impaired behavioral response to amphetamine MP:0030586 decreased sensitivity to amphetamine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0002-6490-7723 anomaly in the total physical bulk or volume of a pancreatic alpha cell compared to the normal state 2018-05-29T08:18:35Z abnormal glucagon-secreting cell mass abnormal pancreatic A cell mass MPheno.ontology MP:0030587 abnormal pancreatic alpha cell mass MP:0030587 anomaly in the total physical bulk or volume of a pancreatic alpha cell compared to the normal state https://orcid.org/0000-0002-6490-7723 reduced total physical bulk or volume of a pancreatic alpha cell compared to the normal state 2018-05-29T08:33:06Z decreased glucagon-secreting cell mass decreased pancreatic A cell mass reduced glucagon-secreting cell mass reduced pancreatic A cell mass reduced pancreatic alpha cell mass MPheno.ontology MP:0030588 decreased pancreatic alpha cell mass MP:0030588 reduced total physical bulk or volume of a pancreatic alpha cell compared to the normal state https://orcid.org/0000-0002-6490-7723 greater total physical bulk or volume of a pancreatic alpha cell compared to the normal state 2018-05-29T08:44:19Z increased glucagon-secreting cell mass increased pancreatic A cell mass MPheno.ontology MP:0030589 increased pancreatic alpha cell mass MP:0030589 greater total physical bulk or volume of a pancreatic alpha cell compared to the normal state https://orcid.org/0000-0002-6490-7723 any structural anomaly of the unique cytoskeletal component in the principal-piece segment of the sperm flagellum which surrounds the axoneme and outer dense fibers and contains two longitudinal columns that are connected by closely organized semicircular transverse ribs; the fibrous sheath is believed to regulate the degree of flexibility, flagellar motion and shape of the flagellar beat during the lifespan of a sperm cell 2018-05-29T09:13:36Z abnormal fibrous sheath of sperm principal piece morphology abnormal sperm flagellar fibrous sheath morphology abnormal sperm flagellum fibrous sheath morphology abnormal sperm principal piece fibrous sheath morphology abnormal sperm tail fibrous sheath morphology MPheno.ontology MP:0030590 abnormal sperm fibrous sheath morphology MP:0030590 any structural anomaly of the unique cytoskeletal component in the principal-piece segment of the sperm flagellum which surrounds the axoneme and outer dense fibers and contains two longitudinal columns that are connected by closely organized semicircular transverse ribs; the fibrous sheath is believed to regulate the degree of flexibility, flagellar motion and shape of the flagellar beat during the lifespan of a sperm cell GO:0035686 PMID:27802166 PMID:3282552 missing the unique cytoskeletal component of the principal-piece segment of the sperm flagellum which surrounds the axoneme and outer dense fibers and contains two longitudinal columns that are connected by closely organized semicircular transverse ribs 2018-05-29T09:43:09Z absent fibrous sheath of sperm principal piece absent sperm flagellar fibrous sheath absent sperm flagellum fibrous sheath absent sperm principal piece fibrous sheath absent sperm tail fibrous sheath MPheno.ontology MP:0030591 absent sperm fibrous sheath MP:0030591 missing the unique cytoskeletal component of the principal-piece segment of the sperm flagellum which surrounds the axoneme and outer dense fibers and contains two longitudinal columns that are connected by closely organized semicircular transverse ribs https://orcid.org/0000-0002-6490-7723 anomaly in the processes involved in the maintenance of an internal steady state of manganese ions within an organism or cell; manganese ions function as cofactors for a large variety of enzymes with many functions; while the element is a required trace mineral for all known living organisms, it also acts as a neurotoxin in larger amounts 2018-06-04T07:03:47Z abnormal manganese ion homeostasis MPheno.ontology MP:0030592 abnormal manganese homeostasis MP:0030592 anomaly in the processes involved in the maintenance of an internal steady state of manganese ions within an organism or cell; manganese ions function as cofactors for a large variety of enzymes with many functions; while the element is a required trace mineral for all known living organisms, it also acts as a neurotoxin in larger amounts GO:0055071 https://en.wikipedia.org/wiki/Manganese any anomaly in the concentration of manganese in the body 2018-06-04T07:15:40Z MPheno.ontology MP:0030593 abnormal manganese level MP:0030593 any anomaly in the concentration of manganese in the body https://orcid.org/0000-0002-6490-7723 any anomaly in the amount of manganese present in brain tissue 2018-06-04T07:19:31Z MPheno.ontology MP:0030594 abnormal brain manganese level MP:0030594 any anomaly in the amount of manganese present in brain tissue https://orcid.org/0000-0002-6490-7723 a greater accumulation of manganese in brain tissue compared to controls 2018-06-04T07:25:03Z MPheno.ontology MP:0030595 increased brain manganese level MP:0030595 a greater accumulation of manganese in brain tissue compared to controls https://orcid.org/0000-0002-6490-7723 a reduced amount of manganese in brain tissue compared to controls 2018-06-04T07:28:20Z reduced brain manganese level MPheno.ontology MP:0030596 decreased brain manganese level MP:0030596 a reduced amount of manganese in brain tissue compared to controls https://orcid.org/0000-0002-6490-7723 any anomaly in the amount of manganese present in liver tissue 2018-06-04T07:32:47Z abnormal hepatic manganese content abnormal liver manganese concentration MPheno.ontology MP:0030597 abnormal liver manganese level MP:0030597 any anomaly in the amount of manganese present in liver tissue https://orcid.org/0000-0002-6490-7723 a greater accumulation of manganese in liver tissue compared to controls 2018-06-04T07:38:07Z increased hepatic manganese level increased liver manganese concentration MPheno.ontology MP:0030598 increased liver manganese level MP:0030598 a greater accumulation of manganese in liver tissue compared to controls https://orcid.org/0000-0002-6490-7723 a reduced amount of manganese in liver tissue compared to controls 2018-06-04T07:42:09Z decreased hepatic manganese level decreased liver manganese concentration reduced hepatic manganese level reduced liver manganese concentration reduced liver manganese level MPheno.ontology MP:0030599 decreased liver manganese level MP:0030599 a reduced amount of manganese in liver tissue compared to controls https://orcid.org/0000-0002-6490-7723 any anomaly in the blood concentration of manganese 2018-06-04T07:46:37Z MPheno.ontology MP:0030600 abnormal circulating manganese level MP:0030600 any anomaly in the blood concentration of manganese https://orcid.org/0000-0002-6490-7723 greater than normal concentration of manganese in the blood 2018-06-04T07:50:19Z MPheno.ontology MP:0030601 increased circulating manganese level MP:0030601 greater than normal concentration of manganese in the blood https://orcid.org/0000-0002-6490-7723 less than the normal concentration of manganese in the blood 2018-06-04T07:52:17Z reduced circulating manganese level MPheno.ontology MP:0030602 decreased circulating manganese level MP:0030602 less than the normal concentration of manganese in the blood https://orcid.org/0000-0002-6490-7723 increased concentration of spermatozoa in the seminal fluid 2018-06-04T09:22:35Z increased sperm count MPheno.ontology MP:0030603 increased sperm number MP:0030603 increased concentration of spermatozoa in the seminal fluid https://orcid.org/0000-0002-6490-7723 anomaly in the processes involved in the maintenance of an internal equilibrium of ammonia in the fluids and tissues 2018-06-08T07:10:57Z MPheno.ontology MP:0030604 abnormal ammonia homeostasis MP:0030604 anomaly in the processes involved in the maintenance of an internal equilibrium of ammonia in the fluids and tissues GO:0097272 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the de-nucleated, dead keratin-filled squamous cell of the stratum corneum; a corneocyte is the last stage of development of a keratinocyte where the keratinocyte flattens, loses its nucleus and eventually delaminates from the epidermis 2018-06-08T07:43:19Z MPheno.ontology MP:0030605 abnormal corneocyte morphology MP:0030605 any structural anomaly of the de-nucleated, dead keratin-filled squamous cell of the stratum corneum; a corneocyte is the last stage of development of a keratinocyte where the keratinocyte flattens, loses its nucleus and eventually delaminates from the epidermis CL:0002153 GO:0003335 any anomaly in the area of potential space between a tooth and the surrounding gingival tissue that is lined by sulcular epithelium; the depth of the sulcus is bounded by two entities: apically by the gingival fibers of the connective tissue attachment and coronally by the free gingival margin 2018-07-02T10:26:20Z abnormal gingival crevice moprhology abnormal gingival groove moprhology abnormal tooth-gingiva interface moprhology MPheno.ontology MP:0030606 abnormal gingival sulcus moprhology MP:0030606 any anomaly in the area of potential space between a tooth and the surrounding gingival tissue that is lined by sulcular epithelium; the depth of the sulcus is bounded by two entities: apically by the gingival fibers of the connective tissue attachment and coronally by the free gingival margin UBERON:0008805 https://en.wikipedia.org/wiki/Gingival_sulcus any structural anomaly of the cord-like masses of epithelial tissue that invaginate from the germinal epithelium of the gonad and give rise to seminiferous tubules and rete testes in the male, and primary ovarian follicles and rete ovarii in the female 2018-07-02T10:39:36Z abnormal genital cord morphology abnormal gonad cord morphology abnormal gonadal cord morphology abnormal primitive sex cord morphology MPheno.ontology MP:0030607 abnormal sex cord morphology MP:0030607 any structural anomaly of the cord-like masses of epithelial tissue that invaginate from the germinal epithelium of the gonad and give rise to seminiferous tubules and rete testes in the male, and primary ovarian follicles and rete ovarii in the female UBERON:0005295 reduction in the number of the bony structures of the upper and lower jaws used in mastication 2018-07-12T15:13:04Z missing teeth reduced number of teeth reduced tooth number hypodontia oligodontia MPheno.ontology MP:0030608 decreased tooth number MP:0030608 reduction in the number of the bony structures of the upper and lower jaws used in mastication https://orcid.org/0000-0002-6490-7723 reduction in the number of the long teeth, normally consisting of two pairs, top and bottom, that are the most anterior and prominent in the jaw 2018-07-12T15:20:10Z reduced incisor number reduced number of incisors MPheno.ontology MP:0030609 decreased incisor number MP:0030609 reduction in the number of the long teeth, normally consisting of two pairs, top and bottom, that are the most anterior and prominent in the jaw https://orcid.org/0000-0002-6490-7723 absence of all of the bony structures of the upper and lower jaws used in mastication 2018-07-12T15:24:32Z anodontia complete dental agenesis complete tooth agenesis edentulous tooth aplasia toothless MPheno.ontology MP:0030610 absent teeth MP:0030610 absence of all of the bony structures of the upper and lower jaws used in mastication https://orcid.org/0000-0002-6490-7723 anomaly in the number of the bony structures of the upper and lower jaws used in mastication 2018-07-13T16:57:34Z abnormal number of teeth abnormal tooth count MPheno.ontology MP:0030611 abnormal tooth number MP:0030611 anomaly in the number of the bony structures of the upper and lower jaws used in mastication https://orcid.org/0000-0002-6490-7723 increased excretion of non-amino organic acids in urine 2018-08-24T09:12:30Z MPheno.ontology MP:0030612 organic aciduria MP:0030612 increased excretion of non-amino organic acids in urine HP:0001992 an increased concentration of dicarboxylic acid in the urine, occurring during increased mobilization or inhibited beta-oxidation of fatty acids, where a number of 3-hydroxydicarboxylic acids are excreted in urine 2018-08-24T09:19:39Z MPheno.ontology MP:0030613 dicarboxylic aciduria MP:0030613 an increased concentration of dicarboxylic acid in the urine, occurring during increased mobilization or inhibited beta-oxidation of fatty acids, where a number of 3-hydroxydicarboxylic acids are excreted in urine HP:0003215 increased concentration of methylmalonic acid in the urine 2018-08-24T10:50:35Z MPheno.ontology MP:0030614 methylmalonic aciduria MP:0030614 increased concentration of methylmalonic acid in the urine HP:0012120 increased concentration of ethylmalonic acid in the urine; ethylmalonic acid is a dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group 2018-08-24T10:57:12Z MPheno.ontology MP:0030615 ethylmalonic aciduria MP:0030615 increased concentration of ethylmalonic acid in the urine; ethylmalonic acid is a dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group HP:0003219 excretion of excessive amounts of glycine in the urine 2018-08-24T11:15:29Z glycinuria increased urine glycine level MPheno.ontology MP:0030616 hyperglycinuria MP:0030616 excretion of excessive amounts of glycine in the urine HP:0003108 excretion of excessive amounts of glutamine in the urine 2018-08-24T11:24:13Z glutaminuria increased urine glutamine level MPheno.ontology MP:0030617 hyperglutaminuria MP:0030617 excretion of excessive amounts of glutamine in the urine HP:0025376 https://orcid.org/0000-0002-6490-7723 excretion of excessive amounts of tryptophan in the urine 2018-08-24T11:29:19Z increased urine tryptophan level MPheno.ontology MP:0030618 tryptophanuria MP:0030618 excretion of excessive amounts of tryptophan in the urine HP:0003361 https://orcid.org/0000-0002-6490-7723 excretion of excessive amounts of homogentisic acid (an intermediate in the tyrosine degradation pathway) and its oxidized form (benzoquinoneacetate) in the urine, giving it an unusually dark color on prolonged exposure to air 2018-08-24T11:55:51Z increased urine homogentisic acid level MPheno.ontology MP:0030619 Homogentisic aciduria is one of the three distinct clinical features of alkaptonuria (AKU), along with ochronosis and ochronotic osteoarthropathy; the darkening of urine occurs because the HGA pigment oxidizes to benzoquinoneacetate (BQA), which forms a melanin-like polymer that slowly turns urine black homogentisic aciduria MP:0030619 excretion of excessive amounts of homogentisic acid (an intermediate in the tyrosine degradation pathway) and its oxidized form (benzoquinoneacetate) in the urine, giving it an unusually dark color on prolonged exposure to air PMID:25003018 Homogentisic aciduria is one of the three distinct clinical features of alkaptonuria (AKU), along with ochronosis and ochronotic osteoarthropathy; the darkening of urine occurs because the HGA pigment oxidizes to benzoquinoneacetate (BQA), which forms a melanin-like polymer that slowly turns urine black PMID:25003018 PMID:8188247 excretion of excessive amounts of valine in the urine 2018-08-29T06:19:58Z hypervalinuria increased urine valine level MPheno.ontology MP:0030620 valinuria MP:0030620 excretion of excessive amounts of valine in the urine https://orcid.org/0000-0002-6490-7723 anomaly in the amount of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3; the thiol side chain in cysteine is susceptible to oxidation to give the disulfide derivative cystine, which serves an important structural role in many proteins 2018-08-29T07:00:34Z MPheno.ontology MP:0030621 abnormal cysteine level MP:0030621 anomaly in the amount of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3; the thiol side chain in cysteine is susceptible to oxidation to give the disulfide derivative cystine, which serves an important structural role in many proteins CHEBI:15356 increase in the amount of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 2018-08-29T07:16:55Z MPheno.ontology MP:0030622 increased cysteine level MP:0030622 increase in the amount of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 CHEBI:15356 https://orcid.org/0000-0002-6490-7723 reduction in the amount of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 2018-08-29T07:24:15Z reduced cysteine level MPheno.ontology MP:0030623 decreased cysteine level MP:0030623 reduction in the amount of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 CHEBI:15356 https://orcid.org/0000-0002-6490-7723 anomaly in the amount per unit of blood of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 2018-08-29T07:28:16Z MPheno.ontology MP:0030624 abnormal circulating cysteine level MP:0030624 anomaly in the amount per unit of blood of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 CHEBI:15356 https://orcid.org/0000-0002-6490-7723 increase in the amount per unit of blood of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 2018-08-29T07:46:47Z MPheno.ontology MP:0030625 increased circulating cysteine level MP:0030625 increase in the amount per unit of blood of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 CHEBI:15356 https://orcid.org/0000-0002-6490-7723 reduction in the amount per unit of blood of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 2018-08-29T07:50:36Z reduced circulating cysteine level MPheno.ontology MP:0030626 decreased circulating cysteine level MP:0030626 reduction in the amount per unit of blood of cysteine, a sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3 CHEBI:15356 https://orcid.org/0000-0002-6490-7723 any anomaly in the amount of methylmalonic acid, a dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group 2018-08-29T08:04:58Z MPheno.ontology MP:0030627 abnormal methylmalonic acid level MP:0030627 any anomaly in the amount of methylmalonic acid, a dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group CHEBI:30860 increase in the amount of methylmalonic acid, a dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group 2018-08-29T08:11:19Z MPheno.ontology MP:0030628 increased methylmalonic acid level MP:0030628 increase in the amount of methylmalonic acid, a dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group CHEBI:30860 https://orcid.org/0000-0002-6490-7723 reduction in the amount of methylmalonic acid, a dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group 2018-08-29T08:15:36Z reduced methylmalonic acid level MPheno.ontology MP:0030629 decreased methylmalonic acid level MP:0030629 reduction in the amount of methylmalonic acid, a dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group CHEBI:30860 https://orcid.org/0000-0002-6490-7723 increased concentration in the blood of methylmalonic acid, a dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group 2018-08-29T08:18:39Z methylmalonic acidaemia methylmalonic acidemia MPheno.ontology MP:0030630 increased circulating methylmalonic acid level MP:0030630 increased concentration in the blood of methylmalonic acid, a dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group CHEBI:30860 HP:0002912 any change in the amount of creatine in the urine; creatine is a glycine derivative having methyl and amidino groups attached to the nitrogen 2018-08-29T08:34:38Z MPheno.ontology MP:0030631 abnormal urine creatine level MP:0030631 any change in the amount of creatine in the urine; creatine is a glycine derivative having methyl and amidino groups attached to the nitrogen CHEBI:16919 https://orcid.org/0000-0002-6490-7723 an increased concentration of creatine in the urine; creatine is a glycine derivative having methyl and amidino groups attached to the nitrogen 2018-08-29T08:37:34Z creatinuria MPheno.ontology MP:0030632 increased urine creatine level MP:0030632 an increased concentration of creatine in the urine; creatine is a glycine derivative having methyl and amidino groups attached to the nitrogen CHEBI:16919 https://orcid.org/0000-0002-6490-7723 a decreased concentration of creatine in the urine; creatine is a glycine derivative having methyl and amidino groups attached to the nitrogen 2018-08-29T08:50:03Z reduced urine creatine level MPheno.ontology MP:0030633 decreased urine creatine level MP:0030633 a decreased concentration of creatine in the urine; creatine is a glycine derivative having methyl and amidino groups attached to the nitrogen CHEBI:16919 https://orcid.org/0000-0002-6490-7723 anomaly in the amount of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine metabolism 2018-08-29T09:02:13Z MPheno.ontology MP:0030634 abnormal taurine level MP:0030634 anomaly in the amount of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine metabolism CHEBI:15891 increase in the amount of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine metabolism 2018-08-29T09:08:43Z MPheno.ontology MP:0030635 increased taurine level MP:0030635 increase in the amount of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine metabolism CHEBI:15891 https://orcid.org/0000-0002-6490-7723 reduction in the amount of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine metabolism 2018-08-29T09:11:39Z reduced taurine level MPheno.ontology MP:0030636 decreased taurine level MP:0030636 reduction in the amount of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine metabolism CHEBI:15891 https://orcid.org/0000-0002-6490-7723 anomaly in the amount per unit of blood of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine 2018-08-29T09:14:36Z MPheno.ontology MP:0030637 abnormal circulating taurine level MP:0030637 anomaly in the amount per unit of blood of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine CHEBI:15891 https://orcid.org/0000-0002-6490-7723 increase in the amount per unit of blood of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine 2018-08-29T09:21:11Z taurinemia MPheno.ontology MP:0030638 increased circulating taurine level MP:0030638 increase in the amount per unit of blood of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine CHEBI:15891 https://orcid.org/0000-0002-6490-7723 reduction in the amount per unit of blood of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine 2018-08-29T09:35:45Z reduced circulating taurine level MPheno.ontology MP:0030639 decreased circulating taurine level MP:0030639 reduction in the amount per unit of blood of taurine, an amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid; taurine is a naturally occurring amino acid derived from methionine and cysteine CHEBI:15891 https://orcid.org/0000-0002-6490-7723 anomaly in the amount of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins; methionine is butyric acid bearing an amino substituent at position 2 and a methylthio substituent at position 4 2018-08-30T08:34:12Z MPheno.ontology MP:0030640 abnormal methionine level MP:0030640 anomaly in the amount of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins; methionine is butyric acid bearing an amino substituent at position 2 and a methylthio substituent at position 4 CHEBI:16811 GO:0006555 increase in the amount of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins 2018-08-30T08:41:20Z MPheno.ontology MP:0030641 increased methionine level MP:0030641 increase in the amount of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins GO:0006555 https://orcid.org/0000-0002-6490-7723 reduction in the amount of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins 2018-08-30T08:44:49Z reduced methionine level MPheno.ontology MP:0030642 decreased methionine level MP:0030642 reduction in the amount of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins GO:0006555 https://orcid.org/0000-0002-6490-7723 anomaly in the amount per unit of blood of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins 2018-08-30T08:48:42Z abnormal plasma methionine level abnormal serum methionine level MPheno.ontology MP:0030643 abnormal circulating methionine level MP:0030643 anomaly in the amount per unit of blood of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins GO:0006555 https://orcid.org/0000-0002-6490-7723 increase in the amount per unit of blood of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins 2018-08-30T08:56:27Z hypermethioninaemia hypermethioninemia methioninaemia methioninemia increased plasma methionine level increased serum methionine level MPheno.ontology MP:0030644 increased circulating methionine level MP:0030644 increase in the amount per unit of blood of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins GO:0006555 https://orcid.org/0000-0002-6490-7723 hypermethioninemia HP:0003235 reduction in the amount per unit of blood of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins 2018-08-30T09:05:00Z hypomethioninaemia hypomethioninemia reduced circulating methionine level decreased plasma methionine level decreased serum methionine level MPheno.ontology MP:0030645 decreased circulating methionine level MP:0030645 reduction in the amount per unit of blood of methionine, a sulfur-containing, essential amino acid found in peptide linkage in proteins GO:0006555 https://orcid.org/0000-0002-6490-7723 hypomethioninemia HP:0003658 anomaly in the amount of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis; ornithine is an alpha-amino acid that is pentanoic acid bearing two amino substituents at positions 2 and 5 2018-08-30T09:45:24Z MPheno.ontology MP:0030646 abnormal ornithine level MP:0030646 anomaly in the amount of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis; ornithine is an alpha-amino acid that is pentanoic acid bearing two amino substituents at positions 2 and 5 CHEBI:18257 GO:0006591 increase in the amount of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis 2018-08-30T09:49:01Z MPheno.ontology MP:0030647 increased ornithine level MP:0030647 increase in the amount of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis GO:0006591 https://orcid.org/0000-0002-6490-7723 reduction in the amount of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis 2018-08-30T09:51:52Z reduced ornithine level MPheno.ontology MP:0030648 decreased ornithine level MP:0030648 reduction in the amount of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis GO:0006591 https://orcid.org/0000-0002-6490-7723 anomaly in the amount per unit of blood of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis 2018-08-30T09:54:40Z abnormal plasma ornithine level abnormal serum ornithine level MPheno.ontology MP:0030649 abnormal circulating ornithine level MP:0030649 anomaly in the amount per unit of blood of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis GO:0006591 https://orcid.org/0000-0002-6490-7723 increase in the amount per unit of blood of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis 2018-08-30T09:58:54Z hyperornithinaemia hyperornithinemia ornithinaemia ornithinemia increased plasma ornithine level increased serum ornithine level MPheno.ontology MP:0030650 increased circulating ornithine level MP:0030650 increase in the amount per unit of blood of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis GO:0006591 https://orcid.org/0000-0002-6490-7723 hyperornithinemia HP:0012026 reduction in the amount per unit of blood of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis 2018-08-30T10:03:39Z hypoornithinaemia hypoornithinemia reduced circulating ornithine level decreased plasma ornithine level decreased serum ornithine level MPheno.ontology MP:0030651 decreased circulating ornithine level MP:0030651 reduction in the amount per unit of blood of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis GO:0006591 https://orcid.org/0000-0002-6490-7723 aberrant concentration in the blood of glutathione, a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine 2018-08-30T10:23:38Z abnormal circulating GSH level abnormal plasma GSH level abnormal plasma glutathione level abnormal serum GSH level abnormal serum glutathione level MPheno.ontology MP:0030652 abnormal circulating glutathione level MP:0030652 aberrant concentration in the blood of glutathione, a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine CHEBI:16856 https://orcid.org/0000-0002-6490-7723 increase in the amount per unit of blood of glutathione, a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine 2018-08-30T10:30:31Z glutathionaemia glutathionemia increased circulating GSH level increased plasma GSH level increased plasma glutathione level increased serum GSH level increased serum glutathione level MPheno.ontology MP:0030653 increased circulating glutathione level MP:0030653 increase in the amount per unit of blood of glutathione, a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine CHEBI:16856 https://orcid.org/0000-0002-6490-7723 aberrant concentration in the blood of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain 2018-08-30T10:37:59Z abnormal plasma glycine level abnormal serum glycine level MPheno.ontology MP:0030654 abnormal circulating glycine level MP:0030654 aberrant concentration in the blood of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain CHEBI:15428 https://orcid.org/0000-0002-6490-7723 increase in the amount per unit of blood of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain 2018-08-30T10:44:35Z glycinaemia glycinemia hyperglycinaemia hyperglycinemia increased plasma glycine level increased serum glycine level MPheno.ontology MP:0030655 increased circulating glycine level MP:0030655 increase in the amount per unit of blood of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain CHEBI:15428 https://orcid.org/0000-0002-6490-7723 hyperglycinaemia HP:0002154 hyperglycinemia HP:0002154 reduction in the amount per unit of blood of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain 2018-08-30T10:54:37Z hypoglycinaemia hypoglycinemia reduced circulating glycine level decreased plasma glycine level decreased serum glycine level MPheno.ontology MP:0030656 decreased circulating glycine level MP:0030656 reduction in the amount per unit of blood of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain CHEBI:15428 https://orcid.org/0000-0002-6490-7723 hypoglycinemia HP:0012277 anomaly in the amount of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain; glycine is a major inhibitory neurotransmitter in the mammalian central nervous system 2018-08-30T11:01:23Z MPheno.ontology MP:0030657 abnormal glycine level MP:0030657 anomaly in the amount of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain; glycine is a major inhibitory neurotransmitter in the mammalian central nervous system CHEBI:15428 https://en.wikipedia.org/wiki/Glycine increase in the amount of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain 2018-08-30T11:07:51Z MPheno.ontology MP:0030658 increased glycine level MP:0030658 increase in the amount of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain CHEBI:15428 https://orcid.org/0000-0002-6490-7723 reduction in the amount of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain 2018-08-30T11:12:08Z reduced glycine level MPheno.ontology MP:0030659 decreased glycine level MP:0030659 reduction in the amount of glycine, the simplest (and the only achiral) proteinogenic amino acid that has a single hydrogen atom as its side chain CHEBI:15428 https://orcid.org/0000-0002-6490-7723 aberrant concentration in the blood of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group 2018-08-30T11:22:21Z abnormal plasma arginine level abnormal serum arginine level MPheno.ontology MP:0030660 abnormal circulating arginine level MP:0030660 aberrant concentration in the blood of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group CHEBI:29016 https://orcid.org/0000-0002-6490-7723 increase in the amount per unit of blood of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group; usually associated with a deficiency of arginase 2018-08-30T11:26:22Z argininaemia argininemia hyperargininaemia hyperargininemia increased plasma arginine level increased serum arginine level MPheno.ontology MP:0030661 increased circulating arginine level MP:0030661 increase in the amount per unit of blood of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group; usually associated with a deficiency of arginase CHEBI:29016 https://orcid.org/0000-0002-6490-7723 reduction in the amount per unit of blood of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group 2018-08-30T11:31:13Z hypoargininaemia hypoargininemia reduced circulating arginine level decreased plasma arginine level decreased serum arginine level MPheno.ontology MP:0030662 decreased circulating arginine level MP:0030662 reduction in the amount per unit of blood of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group CHEBI:29016 https://orcid.org/0000-0002-6490-7723 hypoargininemia HP:0005961 anomaly in the amount of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group 2018-08-30T11:36:44Z MPheno.ontology MP:0030663 abnormal arginine level MP:0030663 anomaly in the amount of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group CHEBI:29016 https://orcid.org/0000-0002-6490-7723 increase in the amount of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group 2018-08-30T11:40:58Z MPheno.ontology MP:0030664 increased arginine level MP:0030664 increase in the amount of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group CHEBI:29016 https://orcid.org/0000-0002-6490-7723 reduction in the amount of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group 2018-08-30T11:45:30Z reduced arginine level MPheno.ontology MP:0030665 decreased arginine level MP:0030665 reduction in the amount of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group CHEBI:29016 https://orcid.org/0000-0002-6490-7723 aberrant concentration in the blood of proline, an alpha-amino acid that is pyrrolidine bearing a carboxy substituent at position 2; proline is a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins 2018-08-30T11:57:27Z abnormal plasma proline level abnormal serum proline level MPheno.ontology MP:0030666 abnormal circulating proline level MP:0030666 aberrant concentration in the blood of proline, an alpha-amino acid that is pyrrolidine bearing a carboxy substituent at position 2; proline is a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins CHEBI:26271 GO:0006560 https://orcid.org/0000-0002-6490-7723 increase in the amount per unit of blood of proline, an alpha-amino acid that is pyrrolidine bearing a carboxy substituent at position 2; proline is a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins 2018-08-30T12:14:49Z hyperprolinaemia hyperprolinemia prolinaemia prolinemia increased plasma proline level increased serum proline level MPheno.ontology MP:0030667 increased circulating proline level MP:0030667 increase in the amount per unit of blood of proline, an alpha-amino acid that is pyrrolidine bearing a carboxy substituent at position 2; proline is a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins CHEBI:26271 GO:0006560 https://orcid.org/0000-0002-6490-7723 hyperprolinemia HP:0008358 reduction in the amount per unit of blood of proline, an alpha-amino acid that is pyrrolidine bearing a carboxy substituent at position 2; proline is a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins 2018-08-30T12:20:17Z hypoprolinaemia hypoprolinemia reduced circulating proline level decreased plasma proline level decreased serum proline level MPheno.ontology MP:0030668 decreased circulating proline level MP:0030668 reduction in the amount per unit of blood of proline, an alpha-amino acid that is pyrrolidine bearing a carboxy substituent at position 2; proline is a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins CHEBI:26271 GO:0006560 https://orcid.org/0000-0002-6490-7723 aberrant concentration in the blood of phenylalanine (2-amino-3-phenylpropanoic acid), an aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group; it is an essential alpha-amino acid and the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin 2018-08-30T12:25:52Z abnormal plasma phenylalanine level abnormal serum phenylalanine level MPheno.ontology MP:0030669 abnormal circulating phenylalanine level MP:0030669 aberrant concentration in the blood of phenylalanine (2-amino-3-phenylpropanoic acid), an aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group; it is an essential alpha-amino acid and the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin CHEBI:28044 https://en.wikipedia.org/wiki/Phenylalanine increase in the amount per unit of blood of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin 2018-08-30T12:31:58Z hyperphenylalaninaemia hyperphenylalaninemia phenylalaninaemia phenylalaninemia increased plasma phenylalanine level increased serum phenylalanine level MPheno.ontology MP:0030670 increased circulating phenylalanine level MP:0030670 increase in the amount per unit of blood of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin CHEBI:28044 https://en.wikipedia.org/wiki/Phenylalanine hyperphenylalaninemia HP:0004923 reduction in the amount per unit of blood of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin 2018-08-30T12:36:51Z hypophenylalaninaemia hypophenylalaninemia reduced circulating phenylalanine level decreased plasma phenylalanine level decreased serum phenylalanine level MPheno.ontology MP:0030671 decreased circulating phenylalanine level MP:0030671 reduction in the amount per unit of blood of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin CHEBI:28044 https://en.wikipedia.org/wiki/Phenylalanine aberrant concentration in the blood of alanine, an alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2 2018-08-30T12:43:30Z abnormal plasma alanine level abnormal serum alanine level MPheno.ontology MP:0030672 abnormal circulating alanine level MP:0030672 aberrant concentration in the blood of alanine, an alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2 CHEBI:16449 https://orcid.org/0000-0002-6490-7723 increase in the amount per unit of blood of alanine, an alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2 2018-08-30T12:47:39Z alaninaemia alaninemia hyperalaninaemia hyperalaninemia increased plasma alanine level increased serum alanine level MPheno.ontology MP:0030673 increased circulating alanine level MP:0030673 increase in the amount per unit of blood of alanine, an alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2 CHEBI:16449 https://orcid.org/0000-0002-6490-7723 hyperalaninemia HP:0003348 reduction in the amount per unit of blood of alanine, an alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2 2018-08-30T12:52:08Z hypoalaninaemia hypoalaninemia reduced circulating alanine level decreased plasma alanine level decreased serum alanine level MPheno.ontology MP:0030674 decreased circulating alanine level MP:0030674 reduction in the amount per unit of blood of alanine, an alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2 CHEBI:16449 https://orcid.org/0000-0002-6490-7723 anomaly in the amount of acetylcholine, an ester of acetic acid and choline; acetylcholine is a major neurotransmitter and neuromodulator both in the central and peripheral nervous systems; it also acts as a paracrine signal in various non-neural tissues 2018-09-06T06:48:03Z abnormal Ach level MPheno.ontology MP:0030675 abnormal acetylcholine level MP:0030675 anomaly in the amount of acetylcholine, an ester of acetic acid and choline; acetylcholine is a major neurotransmitter and neuromodulator both in the central and peripheral nervous systems; it also acts as a paracrine signal in various non-neural tissues CHEBI:15355 GO:0008291 greater than the normal amount of acetylcholine, an ester of acetic acid and choline; acetylcholine is a major neurotransmitter and neuromodulator both in the central and peripheral nervous systems; it also acts as a paracrine signal in various non-neural tissues 2018-09-06T06:55:09Z increased Ach level MPheno.ontology MP:0030676 increased acetylcholine level MP:0030676 greater than the normal amount of acetylcholine, an ester of acetic acid and choline; acetylcholine is a major neurotransmitter and neuromodulator both in the central and peripheral nervous systems; it also acts as a paracrine signal in various non-neural tissues CHEBI:15355 GO:0008291 https://orcid.org/0000-0002-6490-7723 anomaly in the amount of hydroxyproline, a proline derivative that is proline substituted by at least one hydroxy group; hydroxyproline is non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix 2018-09-06T07:05:10Z MPheno.ontology MP:0030677 abnormal hydroxyproline level MP:0030677 anomaly in the amount of hydroxyproline, a proline derivative that is proline substituted by at least one hydroxy group; hydroxyproline is non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix CHEBI:24741 https://pubchem.ncbi.nlm.nih.gov/compound/L-Hydroxyproline increase in the amount of hydroxyproline, a non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix 2018-09-06T07:11:31Z MPheno.ontology MP:0030678 increased hydroxyproline level MP:0030678 increase in the amount of hydroxyproline, a non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix CHEBI:24741 https://orcid.org/0000-0002-6490-7723 https://pubchem.ncbi.nlm.nih.gov/compound/L-Hydroxyproline reduction in the amount of hydroxyproline, a non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix 2018-09-06T07:16:19Z reduced hydroxyproline level MPheno.ontology MP:0030679 decreased hydroxyproline level MP:0030679 reduction in the amount of hydroxyproline, a non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix CHEBI:24741 https://orcid.org/0000-0002-6490-7723 https://pubchem.ncbi.nlm.nih.gov/compound/L-Hydroxyproline anomaly in the amount per unit of blood of hydroxyproline, a non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix 2018-09-06T07:20:17Z abnormal plasma hydroxyproline level abnormal serum hydroxyproline level MPheno.ontology MP:0030680 abnormal circulating hydroxyproline level MP:0030680 anomaly in the amount per unit of blood of hydroxyproline, a non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix CHEBI:24741 https://orcid.org/0000-0002-6490-7723 https://pubchem.ncbi.nlm.nih.gov/compound/L-Hydroxyproline increase in the amount per unit of blood of hydroxyproline, a non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix 2018-09-06T07:29:28Z hydroxyprolinaemia hydroxyprolinemia increased plasma hydroxyproline level increased serum hydroxyproline level MPheno.ontology MP:0030681 increased circulating hydroxyproline level MP:0030681 increase in the amount per unit of blood of hydroxyproline, a non-proteinogenic alpha-amino acid that is a major component of collagen and plays a key role in the stability of the collagen triple helix CHEBI:24741 https://orcid.org/0000-0002-6490-7723 https://pubchem.ncbi.nlm.nih.gov/compound/L-Hydroxyproline hydroxyprolinemia HP:0003260 excretion of excessive amounts of hydroxyproline in the urine 2018-09-06T07:42:04Z elevated urinary hydroxyproline increased urine hydroxyproline level MPheno.ontology MP:0030682 hydroxyprolinuria MP:0030682 excretion of excessive amounts of hydroxyproline in the urine https://orcid.org/0000-0002-6490-7723 elevated urinary hydroxyproline HP:0003080 anomaly in the amount of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine 2018-09-06T08:13:58Z MPheno.ontology MP:0030683 abnormal cystathionine level MP:0030683 anomaly in the amount of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine CHEBI:17755 https://en.wikipedia.org/wiki/Cystathionine increase in the amount of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine 2018-09-06T08:19:29Z MPheno.ontology MP:0030684 increased cystathionine level MP:0030684 increase in the amount of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine CHEBI:17755 https://en.wikipedia.org/wiki/Cystathionine reduction in the amount of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine 2018-09-06T08:22:15Z reduced cystathionine level MPheno.ontology MP:0030685 decreased cystathionine level MP:0030685 reduction in the amount of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine CHEBI:17755 https://en.wikipedia.org/wiki/Cystathionine anomaly in the amount per unit of blood of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine 2018-09-06T08:25:28Z abnormal plasma cystathionine level abnormal serum cystathionine level MPheno.ontology MP:0030686 cystathionine can be directly interconverted to cysteine; cystathionine is not normally detectable in plasma abnormal circulating cystathionine level MP:0030686 anomaly in the amount per unit of blood of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine CHEBI:17755 https://en.wikipedia.org/wiki/Cystathionine cystathionine can be directly interconverted to cysteine; cystathionine is not normally detectable in plasma HP:0003286 increase in the amount per unit of blood of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine 2018-09-06T08:31:18Z cystathioninaemia cystathioninemia hypercystathioninaemia hypercystathioninemia increased plasma cystathionine level increased serum cystathionine level MPheno.ontology MP:0030687 cystathionine can be directly interconverted to cysteine; cystathionine is not normally detectable in plasma increased circulating cystathionine level MP:0030687 increase in the amount per unit of blood of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine CHEBI:17755 https://en.wikipedia.org/wiki/Cystathionine cystathioninemia HP:0003286 cystathionine can be directly interconverted to cysteine; cystathionine is not normally detectable in plasma HP:0003286 reduction in the amount per unit of blood of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine 2018-09-06T08:39:10Z reduced circulating cystathionine level decreased plasma cystathionine level decreased serum cystathionine level MPheno.ontology MP:0030688 decreased circulating cystathionine level MP:0030688 reduction in the amount per unit of blood of cystathionine, a modified amino acid generated by enzymic means from homocysteine and serine; cystathionine is an intermediate in the synthesis of cysteine CHEBI:17755 https://en.wikipedia.org/wiki/Cystathionine excretion of excessive amounts of cystathionine in the urine 2018-09-06T08:53:04Z high urine cystathionine levels increased urine cystathionine level MPheno.ontology MP:0030689 cystathioninuria MP:0030689 excretion of excessive amounts of cystathionine in the urine https://orcid.org/0000-0002-6490-7723 high urine cystathionine levels HP:0003153 anomaly in the amount of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group; serine participates in the biosynthesis of purines and pyrimidines, is the precursor to glycine and cysteine and to numerous metabolites including sphingolipids and folate, and is often a hydrogen donor in enzymes, such as trypsin and chymotrypsin, playing a key role in their function as catalysts 2018-09-06T09:07:33Z MPheno.ontology MP:0030690 abnormal serine level MP:0030690 anomaly in the amount of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group; serine participates in the biosynthesis of purines and pyrimidines, is the precursor to glycine and cysteine and to numerous metabolites including sphingolipids and folate, and is often a hydrogen donor in enzymes, such as trypsin and chymotrypsin, playing a key role in their function as catalysts CHEBI:17822 https://en.wikipedia.org/wiki/Serine increase in the amount of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group 2018-09-06T09:12:49Z MPheno.ontology MP:0030691 increased serine level MP:0030691 increase in the amount of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group CHEBI:17822 https://orcid.org/0000-0002-6490-7723 reduction in the amount of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group 2018-09-06T09:17:10Z reduced serine level MPheno.ontology MP:0030692 decreased serine level MP:0030692 reduction in the amount of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group CHEBI:17822 https://orcid.org/0000-0002-6490-7723 anomaly in the amount per unit of blood of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group 2018-09-06T09:20:29Z abnormal plasma serine level abnormal serum serine level MPheno.ontology MP:0030693 abnormal circulating serine level MP:0030693 anomaly in the amount per unit of blood of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group CHEBI:17822 https://orcid.org/0000-0002-6490-7723 increase in the amount per unit of blood of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group 2018-09-06T09:24:29Z hyperserinaemia hyperserinemia increased plasma serine level increased serum serine level MPheno.ontology MP:0030694 increased circulating serine level MP:0030694 increase in the amount per unit of blood of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group CHEBI:17822 https://orcid.org/0000-0002-6490-7723 reduction in the amount per unit of blood of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group 2018-09-06T09:29:08Z hyposerinaemia hyposerinemia reduced circulating serine level decreased plasma serine level decreased serum serine level MPheno.ontology MP:0030695 decreased circulating serine level MP:0030695 reduction in the amount per unit of blood of serine, 2-amino-3-hydroxypropanoic acid, a non-essential alpha-amino acid that is alanine substituted at position 3 by a hydroxy group CHEBI:17822 https://orcid.org/0000-0002-6490-7723 hyposerinemia HP:0012279 anomaly in the amount of phenylalanine (2-amino-3-phenylpropanoic acid), an aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group; it is an essential alpha-amino acid and the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin 2018-09-06T09:43:43Z MPheno.ontology MP:0030696 abnormal phenylalanine level MP:0030696 anomaly in the amount of phenylalanine (2-amino-3-phenylpropanoic acid), an aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group; it is an essential alpha-amino acid and the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin CHEBI:28044 https://en.wikipedia.org/wiki/Phenylalanine increase in the amount of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin 2018-09-06T10:12:44Z MPheno.ontology MP:0030697 increased phenylalanine level MP:0030697 increase in the amount of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin CHEBI:28044 https://en.wikipedia.org/wiki/Phenylalanine reduction in the amount of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin 2018-09-06T10:15:36Z reduced phenylalanine level MPheno.ontology MP:0030698 decreased phenylalanine level MP:0030698 reduction in the amount of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin CHEBI:28044 https://en.wikipedia.org/wiki/Phenylalanine anomaly in the amount of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins 2018-09-06T10:46:37Z MPheno.ontology MP:0030699 abnormal threonine level MP:0030699 anomaly in the amount of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins GO:0006566 https://orcid.org/0000-0002-6490-7723 increase in the amount of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins 2018-09-06T10:51:37Z MPheno.ontology MP:0030700 increased threonine level MP:0030700 increase in the amount of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins GO:0006566 https://orcid.org/0000-0002-6490-7723 reduction in the amount of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins 2018-09-06T10:54:01Z reduced threonine level MPheno.ontology MP:0030701 decreased threonine level MP:0030701 reduction in the amount of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins GO:0006566 https://orcid.org/0000-0002-6490-7723 anomaly in the amount per unit of blood of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins 2018-09-06T10:57:19Z abnormal plasma threonine level abnormal serum threonine level MPheno.ontology MP:0030702 abnormal circulating threonine level MP:0030702 anomaly in the amount per unit of blood of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins GO:0006566 https://orcid.org/0000-0002-6490-7723 increase in the amount per unit of blood of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins 2018-09-06T11:00:58Z hyperthreoninaemia hyperthreoninemia increased plasma threonine level increased serum threonine level MPheno.ontology MP:0030703 increased circulating threonine level MP:0030703 increase in the amount per unit of blood of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins GO:0006566 https://orcid.org/0000-0002-6490-7723 hyperthreoninemia HP:0003354 reduction in the amount per unit of blood of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins 2018-09-06T11:06:27Z reduced circulating threonine level decreased plasma threonine level decreased serum threonine level MPheno.ontology MP:0030704 decreased circulating threonine level MP:0030704 reduction in the amount per unit of blood of threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins GO:0006566 https://orcid.org/0000-0002-6490-7723 anomaly in the amount of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states; glutamine plays several important roles, including protein and glutathione synthesis, energy production, acid-base balance, maintenance of optimal antioxidant status, intestinal integrity, immune function, gluconeogenesis, nitrogen transport, and neurotransmitter, nucleotide and nucleic acid synthesis 2018-09-06T11:20:33Z MPheno.ontology MP:0030705 abnormal glutamine level MP:0030705 anomaly in the amount of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states; glutamine plays several important roles, including protein and glutathione synthesis, energy production, acid-base balance, maintenance of optimal antioxidant status, intestinal integrity, immune function, gluconeogenesis, nitrogen transport, and neurotransmitter, nucleotide and nucleic acid synthesis https://books.google.com/books?isbn=145572503X https://en.wikipedia.org/wiki/Glutamine increase in the amount of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states 2018-09-06T11:32:11Z MPheno.ontology MP:0030706 increased glutamine level MP:0030706 increase in the amount of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states https://books.google.com/books?isbn=145572503X https://en.wikipedia.org/wiki/Glutamine reduction in the amount of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states 2018-09-06T11:49:15Z reduced glutamine level MPheno.ontology MP:0030707 decreased glutamine level MP:0030707 reduction in the amount of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states https://books.google.com/books?isbn=145572503X https://en.wikipedia.org/wiki/Glutamine anomaly in the amount per unit of blood of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states 2018-09-06T11:52:35Z abnormal plasma glutamine level abnormal serum glutamine level MPheno.ontology MP:0030708 abnormal circulating glutamine level MP:0030708 anomaly in the amount per unit of blood of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states https://books.google.com/books?isbn=145572503X https://en.wikipedia.org/wiki/Glutamine increase in the amount per unit of blood of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states 2018-09-06T11:57:24Z hyperglutaminaemia hyperglutaminemia increased plasma glutamine level increased serum glutamine level MPheno.ontology MP:0030709 increased circulating glutamine level MP:0030709 increase in the amount per unit of blood of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states https://books.google.com/books?isbn=145572503X https://en.wikipedia.org/wiki/Glutamine hyperglutaminemia HP:0003217 reduction in the amount per unit of blood of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states 2018-09-06T12:02:38Z hypoglutaminaemia hypoglutaminemia reduced circulating glutamine level decreased plasma glutamine level decreased serum glutamine level MPheno.ontology MP:0030710 decreased circulating glutamine level MP:0030710 reduction in the amount per unit of blood of glutamine, a non-essential alpha-amino acid synthesized from glutamate and ammonia that may become conditionally essential in hypercatabolic states https://books.google.com/books?isbn=145572503X https://en.wikipedia.org/wiki/Glutamine anomaly in the amount of isoleucine, a 2-amino-3-methylpentanoic acid having either (2R,3R)- or (2S,3S)-configuration; it is an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels 2018-09-06T12:18:23Z MPheno.ontology MP:0030711 abnormal isoleucine level MP:0030711 anomaly in the amount of isoleucine, a 2-amino-3-methylpentanoic acid having either (2R,3R)- or (2S,3S)-configuration; it is an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels CHEBI:24898 http://www.aminoacidsguide.com/Ile.html increase in the amount of isoleucine, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels 2018-09-06T12:29:13Z MPheno.ontology MP:0030712 increased isoleucine level MP:0030712 increase in the amount of isoleucine, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels http://www.aminoacidsguide.com/Ile.html reduction in the amount of isoleucine, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels 2018-09-06T12:33:32Z reduced isoleucine level MPheno.ontology MP:0030713 decreased isoleucine level MP:0030713 reduction in the amount of isoleucine, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels http://www.aminoacidsguide.com/Ile.html anomaly in the amount per unit of blood of isoleucine, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels 2018-09-06T12:36:38Z abnormal plasma isoleucine level abnormal serum isoleucine level MPheno.ontology MP:0030714 abnormal circulating isoleucine level MP:0030714 anomaly in the amount per unit of blood of isoleucine, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels http://www.aminoacidsguide.com/Ile.html increase in the amount per unit of blood of isoleucine, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels 2018-09-06T12:40:18Z hyperisoleucinaemia hyperisoleucinemia increased plasma isoleucine level increased serum isoleucine level MPheno.ontology MP:0030715 increased circulating isoleucine level MP:0030715 increase in the amount per unit of blood of isoleucine, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels http://www.aminoacidsguide.com/Ile.html hyperisoleucinemia HP:0010913 reduction in the amount per unit of blood of isoleucine, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels 2018-09-06T12:45:13Z hypoisoleucinaemia hypoisoleucinemia reduced circulating isoleucine level decreased plasma isoleucine level decreased serum isoleucine level MPheno.ontology MP:0030716 decreased circulating isoleucine level MP:0030716 reduction in the amount per unit of blood of isoleucine, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins and is important in hemoglobin synthesis and regulation of blood sugar and energy levels http://www.aminoacidsguide.com/Ile.html aberrant concentration in the blood of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis; in humans, lysine plays additional roles in the crosslinking of collagen polypeptides, uptake of essential mineral nutrients, and in the production of carnitine, which is key in fatty acid metabolism; it is also involved in epigenetic regulation by means of histone modification 2018-09-06T13:01:34Z abnormal plasma lysine level abnormal serum lysine level MPheno.ontology MP:0030717 abnormal circulating lysine level MP:0030717 aberrant concentration in the blood of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis; in humans, lysine plays additional roles in the crosslinking of collagen polypeptides, uptake of essential mineral nutrients, and in the production of carnitine, which is key in fatty acid metabolism; it is also involved in epigenetic regulation by means of histone modification CHEBI:25094 https://en.wikipedia.org/wiki/Lysine increase in the amount per unit of blood of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis 2018-09-06T13:09:29Z hyperlysinaemia hyperlysinemia lysinaemia lysinemia increased plasma lysine level increased serum lysine level MPheno.ontology MP:0030718 increased circulating lysine level MP:0030718 increase in the amount per unit of blood of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis CHEBI:25094 https://en.wikipedia.org/wiki/Lysine hyperlysinemia HP:0002161 reduction in the amount per unit of blood of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis 2018-09-06T13:16:12Z hypolysinaemia hypolysinemia reduced circulating lysine level decreased plasma lysine level decreased serum lysine level MPheno.ontology MP:0030719 decreased circulating lysine level MP:0030719 reduction in the amount per unit of blood of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis CHEBI:25094 https://en.wikipedia.org/wiki/Lysine anomaly in the amount of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis; in humans, lysine plays additional roles in the crosslinking of collagen polypeptides, uptake of essential mineral nutrients, and in the production of carnitine, which is key in fatty acid metabolism; it is also involved in epigenetic regulation by means of histone modification 2018-09-06T13:20:46Z MPheno.ontology MP:0030720 abnormal lysine level MP:0030720 anomaly in the amount of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis; in humans, lysine plays additional roles in the crosslinking of collagen polypeptides, uptake of essential mineral nutrients, and in the production of carnitine, which is key in fatty acid metabolism; it is also involved in epigenetic regulation by means of histone modification CHEBI:25094 https://en.wikipedia.org/wiki/Lysine increase in the amount of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis 2018-09-06T13:24:06Z MPheno.ontology MP:0030721 increased lysine level MP:0030721 increase in the amount of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis CHEBI:25094 https://en.wikipedia.org/wiki/Lysine reduction in the amount of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis 2018-09-06T13:27:55Z reduced lysine level MPheno.ontology MP:0030722 decreased lysine level MP:0030722 reduction in the amount of lysine (2,6-diaminohexanoic acid), an essential alpha-amino acid used in protein biosynthesis CHEBI:25094 https://en.wikipedia.org/wiki/Lysine anomaly in the amount of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair 2018-09-06T13:53:29Z MPheno.ontology MP:0030723 abnormal valine level MP:0030723 anomaly in the amount of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair GO:0006573 https://pubchem.ncbi.nlm.nih.gov/compound/L-valine increase in the amount of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair 2018-09-06T13:57:08Z MPheno.ontology MP:0030724 increased valine level MP:0030724 increase in the amount of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair GO:0006573 https://pubchem.ncbi.nlm.nih.gov/compound/L-valine reduction in the amount of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair 2018-09-06T14:00:38Z reduced valine level MPheno.ontology MP:0030725 decreased valine level MP:0030725 reduction in the amount of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair GO:0006573 https://pubchem.ncbi.nlm.nih.gov/compound/L-valine aberrant concentration in the blood of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair 2018-09-06T14:04:19Z abnormal plasma valine level abnormal serum valine level MPheno.ontology MP:0030726 abnormal circulating valine level MP:0030726 aberrant concentration in the blood of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair GO:0006573 https://pubchem.ncbi.nlm.nih.gov/compound/L-valine increase in the amount per unit of blood of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair 2018-09-06T14:12:16Z hypervalinaemia hypervalinemia valinaemia valinemia increased plasma valine level increased serum valine level MPheno.ontology MP:0030727 increased circulating valine level MP:0030727 increase in the amount per unit of blood of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair GO:0006573 https://pubchem.ncbi.nlm.nih.gov/compound/L-valine hypervalinemia HP:0010910 reduction in the amount per unit of blood of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair 2018-09-06T14:17:40Z hypovalinaemia hypovalinemia reduced circulating valine level decreased plasma valine level decreased serum valine level MPheno.ontology MP:0030728 decreased circulating valine level MP:0030728 reduction in the amount per unit of blood of valine (2-amino-3-methylbutanoic acid), a branched-chain essential amino acid that is used in the biosynthesis of proteins, has stimulant activity, and promotes muscle growth and tissue repair GO:0006573 https://pubchem.ncbi.nlm.nih.gov/compound/L-valine anomaly in the amount of beta-alanine (3-aminopropanoic acid), an achiral amino acid and an isomer of alanine; it occurs free (e.g. in brain) and in combination (e.g. in pantothenate) but it is not a constituent of proteins 2018-09-10T09:43:04Z MPheno.ontology MP:0030729 abnormal beta-alanine level MP:0030729 anomaly in the amount of beta-alanine (3-aminopropanoic acid), an achiral amino acid and an isomer of alanine; it occurs free (e.g. in brain) and in combination (e.g. in pantothenate) but it is not a constituent of proteins GO:0019482 increase in the amount of beta-alanine (3-aminopropanoic acid), an achiral amino acid and an isomer of alanine; it occurs free (e.g. in brain) and in combination (e.g. in pantothenate) but it is not a constituent of proteins 2018-09-10T09:47:02Z MPheno.ontology MP:0030730 increased beta-alanine level MP:0030730 increase in the amount of beta-alanine (3-aminopropanoic acid), an achiral amino acid and an isomer of alanine; it occurs free (e.g. in brain) and in combination (e.g. in pantothenate) but it is not a constituent of proteins GO:0019482 anomaly in the amount of gamma-aminobutyric acid, a non-proteinogenic gamma-amino acid that is not incorporated into proteins and acts as the chief inhibitory neurotransmitter in the mammalian central nervous system 2018-09-10T09:55:42Z abnormal 4-aminobutanoic acid level abnormal 4-aminobutyric acid level abnormal GABA level MPheno.ontology MP:0030731 abnormal gamma-aminobutyric acid level MP:0030731 anomaly in the amount of gamma-aminobutyric acid, a non-proteinogenic gamma-amino acid that is not incorporated into proteins and acts as the chief inhibitory neurotransmitter in the mammalian central nervous system CHEBI:16865 https://en.wikipedia.org/wiki/Gamma-Aminobutyric_acid increase in the amount of gamma-aminobutyric acid, a non-proteinogenic gamma-amino acid that is not incorporated into proteins and acts as the chief inhibitory neurotransmitter in the mammalian central nervous system 2018-09-10T10:02:42Z increased 4-aminobutanoic acid level increased 4-aminobutyric acid level increased GABA level MPheno.ontology MP:0030732 increased gamma-aminobutyric acid level MP:0030732 increase in the amount of gamma-aminobutyric acid, a non-proteinogenic gamma-amino acid that is not incorporated into proteins and acts as the chief inhibitory neurotransmitter in the mammalian central nervous system CHEBI:16865 https://en.wikipedia.org/wiki/Gamma-Aminobutyric_acid reduction in the amount of gamma-aminobutyric acid, a non-proteinogenic gamma-amino acid that is not incorporated into proteins and acts as the chief inhibitory neurotransmitter in the mammalian central nervous system 2018-09-10T10:06:38Z decreased 4-aminobutanoic acid level decreased 4-aminobutyric acid level decreased GABA level reduced GABA level reduced gamma-aminobutyric acid level MPheno.ontology MP:0030733 decreased gamma-aminobutyric acid level MP:0030733 reduction in the amount of gamma-aminobutyric acid, a non-proteinogenic gamma-amino acid that is not incorporated into proteins and acts as the chief inhibitory neurotransmitter in the mammalian central nervous system CHEBI:16865 https://en.wikipedia.org/wiki/Gamma-Aminobutyric_acid excretion of excessive amounts of gamma-aminobutyric in the urine 2018-09-10T10:11:01Z GABAuria gamma-aminobutyric aciduria increased urine 4-aminobutanoic acid level increased urine 4-aminobutyric acid level MPheno.ontology MP:0030734 increased urine gamma-aminobutyric acid level MP:0030734 excretion of excessive amounts of gamma-aminobutyric in the urine https://orcid.org/0000-0002-6490-7723 anomaly in the amount of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter 2018-09-10T10:23:51Z abnormal glutamate level MPheno.ontology MP:0030735 abnormal glutamic acid level MP:0030735 anomaly in the amount of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter GO:0006536 https://en.wikipedia.org/wiki/Glutamic_acid increase in the amount of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter 2018-09-10T10:42:13Z increased glutamate level MPheno.ontology MP:0030736 increased glutamic acid level MP:0030736 increase in the amount of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter GO:0006536 https://en.wikipedia.org/wiki/Glutamic_acid reduction in the amount of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter 2018-09-10T10:45:19Z decreased glutamate level reduced glutamate level reduced glutamic acid level MPheno.ontology MP:0030737 decreased glutamic acid level MP:0030737 reduction in the amount of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter GO:0006536 https://en.wikipedia.org/wiki/Glutamic_acid aberrant concentration in the blood of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter 2018-09-10T10:49:14Z abnormal plasma glutamate level abnormal plasma glutamic acid level abnormal serum glutamate level abnormal serum glutamic acid level MPheno.ontology MP:0030738 abnormal circulating glutamic acid level MP:0030738 aberrant concentration in the blood of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter GO:0006536 https://en.wikipedia.org/wiki/Glutamic_acid increase in the amount per unit of blood of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter 2018-09-10T10:54:07Z increased plasma glutamate level increased plasma glutamic acid level increased serum glutamate level increased serum glutamic acid level MPheno.ontology MP:0030739 increased circulating glutamic acid level MP:0030739 increase in the amount per unit of blood of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter https://orcid.org/0000-0002-6490-7723 reduction in the amount per unit of blood of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter 2018-09-10T10:58:16Z reduced circulating glutamic acid level decreased plasma glutamate level decreased plasma glutamic acid level decreased serum glutamate level decreased serum glutamic acid level MPheno.ontology MP:0030740 decreased circulating glutamic acid level MP:0030740 reduction in the amount per unit of blood of glutamic acid (2-aminopentanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, glutamate, is the major excitatory neurotransmitter in the mammalian central nervous system and also serves as the metabolic precursor of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter https://orcid.org/0000-0002-6490-7723 anomaly in the amount of aspartic acid (2-aminobutanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, aspartate, may play a role in excitatory neurotransmission 2018-09-10T11:13:37Z abnormal aspartate level MPheno.ontology MP:0030741 abnormal aspartic acid level MP:0030741 anomaly in the amount of aspartic acid (2-aminobutanedioic acid), a non-essential alpha-amino used in the biosynthesis of proteins; its anion form, aspartate, may play a role in excitatory neurotransmission GO:0006532 https://en.wikipedia.org/wiki/Aspartic_acid increase in the amount of aspartic acid (2-aminobutanedioic acid) or its anion form, aspartate 2018-09-10T11:28:20Z increased aspartate level MPheno.ontology MP:0030742 increased aspartic acid level MP:0030742 increase in the amount of aspartic acid (2-aminobutanedioic acid) or its anion form, aspartate https://orcid.org/0000-0002-6490-7723 reduction in the amount of aspartic acid (2-aminobutanedioic acid) or its anion form, aspartate 2018-09-10T11:31:56Z decreased aspartate level reduced aspartate level reduced aspartic acid level MPheno.ontology MP:0030743 decreased aspartic acid level MP:0030743 reduction in the amount of aspartic acid (2-aminobutanedioic acid) or its anion form, aspartate https://orcid.org/0000-0002-6490-7723 aberrant concentration in the blood of homocitrulline, an amino acid and a metabolite of ornithine in mammalian metabolism 2018-09-11T11:16:42Z abnormal plasma homocitrulline level abnormal serum homocitrulline level MPheno.ontology MP:0030744 abnormal circulating homocitrulline level MP:0030744 aberrant concentration in the blood of homocitrulline, an amino acid and a metabolite of ornithine in mammalian metabolism https://en.wikipedia.org/wiki/Homocitrulline increase in the amount per unit of blood of homocitrulline, an amino acid and a metabolite of ornithine in mammalian metabolism 2018-09-11T11:28:26Z increased plasma homocitrulline level increased serum homocitrulline level MPheno.ontology MP:0030745 increased circulating homocitrulline level MP:0030745 increase in the amount per unit of blood of homocitrulline, an amino acid and a metabolite of ornithine in mammalian metabolism https://en.wikipedia.org/wiki/Homocitrulline https://orcid.org/0000-0002-6490-7723 anomaly in the amount of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins 2018-09-11T11:37:04Z MPheno.ontology MP:0030746 abnormal leucine level MP:0030746 anomaly in the amount of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins GO:0006551 https://en.wikipedia.org/wiki/Leucine increase in the amount of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins 2018-09-11T11:40:23Z MPheno.ontology MP:0030747 increased leucine level MP:0030747 increase in the amount of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins GO:0006551 https://en.wikipedia.org/wiki/Leucine reduction in the amount of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins 2018-09-11T11:43:00Z reduced leucine level MPheno.ontology MP:0030748 decreased leucine level MP:0030748 reduction in the amount of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins GO:0006551 https://en.wikipedia.org/wiki/Leucine anomaly in the amount per unit of blood of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins 2018-09-11T11:46:41Z abnormal plasma leucine level abnormal serum leucine level MPheno.ontology MP:0030749 abnormal circulating leucine level MP:0030749 anomaly in the amount per unit of blood of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins GO:0006551 https://en.wikipedia.org/wiki/Leucine increase in the amount per unit of blood of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins 2018-09-11T11:50:29Z hyperleucinaemia hyperleucinemia increased plasma leucine level increased serum leucine level MPheno.ontology MP:0030750 increased circulating leucine level MP:0030750 increase in the amount per unit of blood of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins GO:0006551 https://en.wikipedia.org/wiki/Leucine hyperleucinemia HP:0010911 reduction in the amount per unit of blood of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins 2018-09-11T11:54:36Z hypoleucinaemia hypoleucinemia reduced circulating leucine level decreased plasma leucine level decreased serum leucine level MPheno.ontology MP:0030751 decreased circulating leucine level MP:0030751 reduction in the amount per unit of blood of leucine, 2-amino-4-methylpentanoic acid, an essential branched-chain alpha-amino acid that is used in the biosynthesis of proteins GO:0006551 https://en.wikipedia.org/wiki/Leucine any anomaly in the amount of choline (2-hydroxyethyltrimethylammonium), an amino alcohol that occurs widely in living organisms as a constituent of certain types of phospholipids and in the neurotransmitter acetylcholine 2018-09-14T08:30:59Z MPheno.ontology MP:0030752 abnormal choline level MP:0030752 any anomaly in the amount of choline (2-hydroxyethyltrimethylammonium), an amino alcohol that occurs widely in living organisms as a constituent of certain types of phospholipids and in the neurotransmitter acetylcholine GO:0019695 less than the normal amount of choline (2-hydroxyethyltrimethylammonium), an amino alcohol that occurs widely in living organisms as a constituent of certain types of phospholipids and in the neurotransmitter acetylcholine 2018-09-14T08:36:27Z reduced choline level MPheno.ontology MP:0030753 decreased choline level MP:0030753 less than the normal amount of choline (2-hydroxyethyltrimethylammonium), an amino alcohol that occurs widely in living organisms as a constituent of certain types of phospholipids and in the neurotransmitter acetylcholine GO:0019695 anomaly in the amount of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching 2018-09-14T08:51:03Z MPheno.ontology MP:0030754 abnormal histamine level MP:0030754 anomaly in the amount of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching https://en.wikipedia.org/wiki/Histamine increase in the amount of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching 2018-09-14T08:54:20Z MPheno.ontology MP:0030755 increased histamine level MP:0030755 increase in the amount of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching https://en.wikipedia.org/wiki/Histamine reduction in the amount of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching 2018-09-14T08:57:31Z reduced histamine level MPheno.ontology MP:0030756 decreased histamine level MP:0030756 reduction in the amount of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching https://en.wikipedia.org/wiki/Histamine aberrant concentration in the blood of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching 2018-09-14T08:59:47Z abnormal plasma histamine level abnormal serum histamine level MPheno.ontology MP:0030757 abnormal circulating histamine level MP:0030757 aberrant concentration in the blood of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching https://en.wikipedia.org/wiki/Histamine https://orcid.org/0000-0002-6490-7723 increase in the amount per unit of blood of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching 2018-09-14T09:03:37Z increased plasma histamine level increased serum histamine level MPheno.ontology MP:0030758 increased circulating histamine level MP:0030758 increase in the amount per unit of blood of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching https://en.wikipedia.org/wiki/Histamine https://orcid.org/0000-0002-6490-7723 reduction in the amount per unit of blood of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching 2018-09-14T09:15:50Z reduced circulating histamine level decreased plasma histamine level decreased serum histamine level MPheno.ontology MP:0030759 decreased circulating histamine level MP:0030759 reduction in the amount per unit of blood of histamine, an amine derived from the decarboxylation of histidine that is involved in local immune responses, in regulating physiological function in the gut, and that acts as a neurotransmitter for the brain, spinal cord, and uterus; histamine is involved in the inflammatory response and has a central role as a mediator of itching https://en.wikipedia.org/wiki/Histamine https://orcid.org/0000-0002-6490-7723 greater than the normal blood amount of dopamine 2018-09-14T09:23:42Z increased plasma dopamine level increased serum dopamine level MPheno.ontology MP:0030760 increased circulating dopamine level MP:0030760 greater than the normal blood amount of dopamine MESH:D02.092.211.215.311.342 https://orcid.org/0000-0002-6490-7723 greater than the normal amount of adrenaline, a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels 2018-09-14T09:38:32Z increased epinephrine level increased adrenal adrenaline level increased adrenal epinephrine level MPheno.ontology MP:0030761 increased adrenaline level MP:0030761 greater than the normal amount of adrenaline, a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels MESH:D02.033.100.291.310 https://orcid.org/0000-0002-6490-7723 less than the normal amount of adrenaline, a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels 2018-09-14T09:44:24Z decreased epinephrine level reduced epinephrine level decreased adrenal adrenaline level decreased adrenal epinephrine level MPheno.ontology MP:0030762 decreased adrenaline level MP:0030762 less than the normal amount of adrenaline, a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels MESH:D02.033.100.291.310 https://orcid.org/0000-0002-6490-7723 anomaly in the amount of anandamide, N-arachidonoylethanolamine, a fatty acid neurotransmitter derived from the non-oxidative metabolism of arachidonic acid; it is an endocannabinoid that binds to cannabinoid receptors and influences mood, appetite, motivation, perception of pain and pleasure, and memory 2018-09-14T10:02:03Z abnormal AEA level MPheno.ontology MP:0030763 abnormal anandamide level MP:0030763 anomaly in the amount of anandamide, N-arachidonoylethanolamine, a fatty acid neurotransmitter derived from the non-oxidative metabolism of arachidonic acid; it is an endocannabinoid that binds to cannabinoid receptors and influences mood, appetite, motivation, perception of pain and pleasure, and memory https://en.wikipedia.org/wiki/Anandamide https://medical-dictionary.thefreedictionary.com/anandamide increase in the amount of anandamide, N-arachidonoylethanolamine, a fatty acid neurotransmitter derived from the non-oxidative metabolism of arachidonic acid; it is an endocannabinoid that binds to cannabinoid receptors and influences mood, appetite, motivation, perception of pain and pleasure, and memory 2018-09-14T10:05:18Z increased AEA level MPheno.ontology MP:0030764 increased anandamide level MP:0030764 increase in the amount of anandamide, N-arachidonoylethanolamine, a fatty acid neurotransmitter derived from the non-oxidative metabolism of arachidonic acid; it is an endocannabinoid that binds to cannabinoid receptors and influences mood, appetite, motivation, perception of pain and pleasure, and memory https://en.wikipedia.org/wiki/Anandamide https://medical-dictionary.thefreedictionary.com/anandamide reduction in the amount of anandamide, N-arachidonoylethanolamine, a fatty acid neurotransmitter derived from the non-oxidative metabolism of arachidonic acid; it is an endocannabinoid that binds to cannabinoid receptors and influences mood, appetite, motivation, perception of pain and pleasure, and memory 2018-09-14T10:07:49Z decreased AEA level reduced AEA level reduced anandamide level MPheno.ontology MP:0030765 decreased anandamide level MP:0030765 reduction in the amount of anandamide, N-arachidonoylethanolamine, a fatty acid neurotransmitter derived from the non-oxidative metabolism of arachidonic acid; it is an endocannabinoid that binds to cannabinoid receptors and influences mood, appetite, motivation, perception of pain and pleasure, and memory https://en.wikipedia.org/wiki/Anandamide https://medical-dictionary.thefreedictionary.com/anandamide greater than the normal urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines act as hormones or neurotransmitters and are derived from the amino acid tyrosine 2018-09-14T10:37:29Z elevated urinary catecholamines increased urinary catecholamine concentration MPheno.ontology MP:0030766 increased urine catecholamine level MP:0030766 greater than the normal urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines act as hormones or neurotransmitters and are derived from the amino acid tyrosine https://orcid.org/0000-0002-6490-7723 elevated urinary catecholamines HP:0011976 less than the normal urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines act as hormones or neurotransmitters and are derived from the amino acid tyrosine 2018-09-14T10:42:16Z decreased urinary catecholamine concentration reduced urine catecholamine level MPheno.ontology MP:0030767 decreased urine catecholamine level MP:0030767 less than the normal urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines act as hormones or neurotransmitters and are derived from the amino acid tyrosine https://orcid.org/0000-0002-6490-7723 decreased urinary catecholamine concentration HP:0045012 an increased amount of dopamine in the urine compared to the normal state 2018-09-14T10:56:33Z elevated urinary dopamine MPheno.ontology MP:0030768 increased urine dopamine level MP:0030768 an increased amount of dopamine in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 elevated urinary dopamine HP:0011979 a reduced amount of dopamine in the urine compared to the normal state 2018-09-14T11:02:09Z reduced urine dopamine level MPheno.ontology MP:0030769 decreased urine dopamine level MP:0030769 a reduced amount of dopamine in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 an increased amount of adrenaline in the urine compared to the normal state 2018-09-14T11:14:23Z elevated urinary epinephrine increased urine epinephrine level MPheno.ontology MP:0030770 increased urine adrenaline level MP:0030770 an increased amount of adrenaline in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 elevated urinary epinephrine HP:0003639 a reduced amount of adrenaline in the urine compared to the normal state 2018-09-14T11:17:53Z decreased urine epinephrine level reduced urine adrenaline level reduced urine epinephrine level MPheno.ontology MP:0030771 decreased urine adrenaline level MP:0030771 a reduced amount of adrenaline in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 an increased amount of noradrenaline in the urine compared to the normal state 2018-09-14T11:21:29Z increased urine norepinephrine level MPheno.ontology MP:0030772 increased urine noradrenaline level MP:0030772 an increased amount of noradrenaline in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 a reduced amount of noradrenaline in the urine compared to the normal state 2018-09-14T11:27:43Z decreased urine norepinephrine level reduced urine noradrenaline level reduced urine norepinephrine level MPheno.ontology MP:0030773 decreased urine noradrenaline level MP:0030773 a reduced amount of noradrenaline in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 any structural anomaly of the triangular band of strong fibers on the posterior side of the hip joint; its fibers span from the ischium at a point below and behind the acetabulum to blend with the circular fibers at the posterior end of the joint capsule and attach at the intertrochanteric line of the femur 2018-09-20T05:53:22Z abnormal ischiocapsular band morphology abnormal ischiocapsular ligament morphology abnormal ligament of Bertin morphology MPheno.ontology MP:0030774 abnormal ischiofemoral ligament morphology MP:0030774 any structural anomaly of the triangular band of strong fibers on the posterior side of the hip joint; its fibers span from the ischium at a point below and behind the acetabulum to blend with the circular fibers at the posterior end of the joint capsule and attach at the intertrochanteric line of the femur https://en.wikipedia.org/wiki/Ischiofemoral_ligament any structural anomaly of the large, strong tendon that serves to attach the plantaris, gastrocnemius (calf) and soleus muscles to the calcaneus (heel) bone 2018-09-20T06:08:58Z abnormal Achilles tendon morphology abnormal heel cord morphology abnormal tendo calcaneus morphology MPheno.ontology MP:0030775 abnormal calcaneal tendon morphology MP:0030775 any structural anomaly of the large, strong tendon that serves to attach the plantaris, gastrocnemius (calf) and soleus muscles to the calcaneus (heel) bone https://en.wikipedia.org/wiki/Achilles_tendon pathologic deposition of calcium salts in the large, strong tendon that serves to attach the plantaris, gastrocnemius (calf) and soleus muscles to the calcaneus (heel) bone 2018-09-20T06:20:55Z Achilles tendon calcification calcaneal tendon calcification calcified Achilles tendon MPheno.ontology MP:0030776 calcified calcaneal tendon MP:0030776 pathologic deposition of calcium salts in the large, strong tendon that serves to attach the plantaris, gastrocnemius (calf) and soleus muscles to the calcaneus (heel) bone https://en.wikipedia.org/wiki/Achilles_tendon https://orcid.org/0000-0002-6490-7723 any anomaly in the urinary amount of citrate, 2-hydroxy-1,2,3-propanetricarboyxlate, an important intermediate in the tricarboxylic acid cycle 2018-09-20T06:39:36Z MPheno.ontology MP:0030777 abnormal urine citrate level MP:0030777 any anomaly in the urinary amount of citrate, 2-hydroxy-1,2,3-propanetricarboyxlate, an important intermediate in the tricarboxylic acid cycle GO:0006101 https://orcid.org/0000-0002-6490-7723 greater than the normal urinary amount of citrate, 2-hydroxy-1,2,3-propanetricarboyxlate, an important intermediate in the tricarboxylic acid cycle 2018-09-20T06:43:36Z hypercitraturia increased urine citrate concentration MPheno.ontology MP:0030778 increased urine citrate level MP:0030778 greater than the normal urinary amount of citrate, 2-hydroxy-1,2,3-propanetricarboyxlate, an important intermediate in the tricarboxylic acid cycle GO:0006101 https://orcid.org/0000-0002-6490-7723 hypercitraturia HP:0012406 less than the normal urinary amount of citrate, 2-hydroxy-1,2,3-propanetricarboyxlate, an important intermediate in the tricarboxylic acid cycle 2018-09-20T07:12:27Z decreased urine citrate concentration hypocitraturia reduced urine citrate level MPheno.ontology MP:0030779 decreased urine citrate level MP:0030779 less than the normal urinary amount of citrate, 2-hydroxy-1,2,3-propanetricarboyxlate, an important intermediate in the tricarboxylic acid cycle GO:0006101 https://orcid.org/0000-0002-6490-7723 hypocitraturia HP:0012405 an increased amount of glycerol in the urine compared to the normal state 2018-09-20T07:30:27Z glyceroluria increased urinary glycerol increased urinary glycerol concentration MPheno.ontology MP:0030780 increased urine glycerol level MP:0030780 an increased amount of glycerol in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 a reduced amount of glycerol in the urine compared to the normal state 2018-09-20T07:37:22Z decreased urinary glycerol concentration reduced urine glycerol level MPheno.ontology MP:0030781 decreased urine glycerol level MP:0030781 a reduced amount of glycerol in the urine compared to the normal state https://orcid.org/0000-0002-6490-7723 any change in the amount of glycerol in the urine 2018-09-20T07:42:54Z abnormal urinary glycerol concentration abnormal urinary glycerol level MPheno.ontology MP:0030782 abnormal urine glycerol level MP:0030782 any change in the amount of glycerol in the urine https://orcid.org/0000-0002-6490-7723 any structural anomaly of the ligament that runs within the vertebral canal along the posterior aspect of the vertebral bodies; it is attached mainly to the intervertebral (IV) discs and less so to the posterior aspects of the vertebral bodies from C2 (axis) to the sacrum, often bridging fat and vessels between the ligament and the bony surface; it weakly resists hyperflexion of the vertebral column and helps prevent or redirect posterior herniation of the nucleus pulposus of an IV disc; the posterior longitudinal ligament is well provided with nociceptive (pain) nerve endings and is a much narrower, somewhat weaker band than the anterior longitudinal ligament 2018-09-20T08:03:33Z MPheno.ontology MP:0030783 abnormal posterior longitudinal ligament morphology MP:0030783 any structural anomaly of the ligament that runs within the vertebral canal along the posterior aspect of the vertebral bodies; it is attached mainly to the intervertebral (IV) discs and less so to the posterior aspects of the vertebral bodies from C2 (axis) to the sacrum, often bridging fat and vessels between the ligament and the bony surface; it weakly resists hyperflexion of the vertebral column and helps prevent or redirect posterior herniation of the nucleus pulposus of an IV disc; the posterior longitudinal ligament is well provided with nociceptive (pain) nerve endings and is a much narrower, somewhat weaker band than the anterior longitudinal ligament https://www.kenhub.com/en/library/anatomy/joints-and-ligaments-of-the-vertebral-column any structural anomaly of the strong triangular ligament that is attached by its apex to the anterior inferior spine of the ilium and acetabular margin and by its base to the intertrochanteric line of the femur; it stabilizes the hip joint and limits extension and lateral rotation of the hip 2018-09-20T08:19:58Z abnormal Bigelow ligament morphology abnormal Y-ligament morphology abnormal ligamentum iliofemorale morphology MPheno.ontology MP:0030784 abnormal iliofemoral ligament morphology MP:0030784 any structural anomaly of the strong triangular ligament that is attached by its apex to the anterior inferior spine of the ilium and acetabular margin and by its base to the intertrochanteric line of the femur; it stabilizes the hip joint and limits extension and lateral rotation of the hip http://www.anatomyexpert.com/app/structure/15412/702/ https://medical-dictionary.thefreedictionary.com/iliofemoral+ligament any structural anomaly of the broad and thin, sickle-shaped peritoneal ligament that attaches the liver to the anterior body wall and is a remnant of the ventral mesentery of the fetus; it is situated in an anteroposterior plane but lies obliquely so that one surface faces forward and is in contact with the peritoneum behind the right rectus abdominis and the diaphragm, while the other is directed backwards and is in contact with the left lobe of the liver 2018-09-20T08:46:40Z abnormal ligamentum falciforme hepatis morphology abnormal liver falciform ligament morphology MPheno.ontology MP:0030785 abnormal falciform ligament morphology MP:0030785 any structural anomaly of the broad and thin, sickle-shaped peritoneal ligament that attaches the liver to the anterior body wall and is a remnant of the ventral mesentery of the fetus; it is situated in an anteroposterior plane but lies obliquely so that one surface faces forward and is in contact with the peritoneum behind the right rectus abdominis and the diaphragm, while the other is directed backwards and is in contact with the left lobe of the liver UBERON:0001247 https://en.wikipedia.org/wiki/Falciform_ligament https://radiopaedia.org/articles/falciform-ligament missing the broad and thin, sickle-shaped peritoneal ligament that attaches the liver to the anterior body wall and is a remnant of the ventral mesentery of the fetus; normally, it is situated in an anteroposterior plane but lies obliquely so that one surface faces forward and is in contact with the peritoneum behind the right rectus abdominis and the diaphragm, while the other is directed backwards and is in contact with the left lobe of the liver 2018-09-20T08:58:46Z absent ligamentum falciforme hepatis absent liver falciform ligament MPheno.ontology MP:0030786 absent falciform ligament MP:0030786 missing the broad and thin, sickle-shaped peritoneal ligament that attaches the liver to the anterior body wall and is a remnant of the ventral mesentery of the fetus; normally, it is situated in an anteroposterior plane but lies obliquely so that one surface faces forward and is in contact with the peritoneum behind the right rectus abdominis and the diaphragm, while the other is directed backwards and is in contact with the left lobe of the liver UBERON:0001247 https://en.wikipedia.org/wiki/Falciform_ligament https://radiopaedia.org/articles/falciform-ligament any structural anomaly of the ligament that connects the cranial tip of the future gonad to the dorsocranial abdominal cavity; during male embryogenesis, outgrowth of the gubernaculum and regression of the CSL result in transabdominal descent of the testes, whereas in the female, development of the CSL in conjunction with failure of the gubernaculum development holds the ovaries in a position lateral to the kidney 2018-09-20T09:18:31Z abnormal CSL morphology MPheno.ontology MP:0030787 abnormal cranial suspensory ligament morphology MP:0030787 any structural anomaly of the ligament that connects the cranial tip of the future gonad to the dorsocranial abdominal cavity; during male embryogenesis, outgrowth of the gubernaculum and regression of the CSL result in transabdominal descent of the testes, whereas in the female, development of the CSL in conjunction with failure of the gubernaculum development holds the ovaries in a position lateral to the kidney PMID:10319319 UBERON:0008848 any structural anomaly of the highest, globular part of the thigh bone which comprises two-thirds of a sphere and articulates with the acetabulum in the pelvic bone forming the hip joint; the head is attached to the femoral body or shaft by the neck of the femur; its surface is smooth, coated with cartilage in the fresh state, except over an ovoid depression, the fovea capitis femoris, which is situated a little below and behind the center of the head, and gives attachment to the ligament of head of femur 2018-09-20T10:00:23Z abnormal femoral head morphology abnormal head of thigh bone MPheno.ontology MP:0030788 abnormal femur head morphology MP:0030788 any structural anomaly of the highest, globular part of the thigh bone which comprises two-thirds of a sphere and articulates with the acetabulum in the pelvic bone forming the hip joint; the head is attached to the femoral body or shaft by the neck of the femur; its surface is smooth, coated with cartilage in the fresh state, except over an ovoid depression, the fovea capitis femoris, which is situated a little below and behind the center of the head, and gives attachment to the ligament of head of femur UBERON:0006767 https://en.wikipedia.org/wiki/Femoral_head https://en.wikipedia.org/wiki/Femur abnormal head of thigh bone HP:0003368 any structural anomaly of the flattened pyramidal process of bone, connecting the femoral head with the femoral shaft, and forming with the latter a wide angle opening medialward 2018-09-20T10:07:52Z abnormal collum femoris morphology abnormal femoral neck morphology abnormal neck of thigh bone MPheno.ontology MP:0030789 abnormal femur neck morphology MP:0030789 any structural anomaly of the flattened pyramidal process of bone, connecting the femoral head with the femoral shaft, and forming with the latter a wide angle opening medialward UBERON:0007119 abnormal neck of thigh bone HP:0003367 a hip deformity that includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees; it may be congenital often syndromic, acquired, or developmental 2018-09-20T10:15:10Z MPheno.ontology MP:0030790 coxa vara MP:0030790 a hip deformity that includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees; it may be congenital often syndromic, acquired, or developmental HP:0002812 an abnormal conformation of the femur that becomes gradually enlarged at one end 2018-09-20T11:01:30Z club-like femur MPheno.ontology MP:0030791 club-shaped femur MP:0030791 an abnormal conformation of the femur that becomes gradually enlarged at one end https://orcid.org/0000-0002-6490-7723 increased size of the femur head 2018-09-20T11:07:37Z enlarged femoral head enlarged femur head increased femur head size large femoral head MPheno.ontology MP:0030792 large femur head MP:0030792 increased size of the femur head https://orcid.org/0000-0002-6490-7723 decreased length of the femur neck 2018-09-20T11:14:00Z decreased femoral neck length decreased femur neck length short femoral neck MPheno.ontology MP:0030793 short femur neck MP:0030793 decreased length of the femur neck https://orcid.org/0000-0002-6490-7723 increased width of the femur neck 2018-09-20T11:17:51Z broad femoral neck increased femur neck width wide femoral neck wide femur neck MPheno.ontology MP:0030794 broad femur neck MP:0030794 increased width of the femur neck https://orcid.org/0000-0002-6490-7723 displacement of one or more bones of a joint from the normal position; common sites include the shoulder, patella, elbow, wrist, finger and hip; a partial dislocation is referred to as a subluxation 2018-09-24T06:34:30Z dislocated joint dislocated joints joint dislocations joint luxation MPheno.ontology MP:0030795 joint dislocation MP:0030795 displacement of one or more bones of a joint from the normal position; common sites include the shoulder, patella, elbow, wrist, finger and hip; a partial dislocation is referred to as a subluxation HP:0001373 https://en.wikipedia.org/wiki/Joint_dislocation https://www.merriam-webster.com/dictionary displacement of the femur from its normal location in the hip joint 2018-09-24T07:26:48Z dislocated hip MPheno.ontology MP:0030796 hip dislocation MP:0030796 displacement of the femur from its normal location in the hip joint HP:0002827 looseness or lack of stability of a joint; may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles 2018-09-24T07:44:37Z joint instability lax joints MPheno.ontology MP:0030797 joint laxity MP:0030797 looseness or lack of stability of a joint; may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles HP:0001388 chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints 2018-09-24T09:12:41Z joint contractures flexion contracture flexion contractures MPheno.ontology MP:0030798 A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. joint contracture MP:0030798 chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints HP:0001371 any structural anomaly of the membrane that wraps around a tendon; it allows the tendon to stretch and prevents it from adhering to the overlying fascia; tendon sheaths consist of two layers: a fibrous layer, made of tight collagenous tissue, and a synovial layer; the synovial part of the tendon sheath consists of a visceral and parietal layer separated by synovial fluid, which keeps the tendon moist and lubricated 2018-09-24T09:49:51Z abnormal synovial tendon sheath morphology MPheno.ontology MP:0030799 abnormal tendon sheath morphology MP:0030799 any structural anomaly of the membrane that wraps around a tendon; it allows the tendon to stretch and prevents it from adhering to the overlying fascia; tendon sheaths consist of two layers: a fibrous layer, made of tight collagenous tissue, and a synovial layer; the synovial part of the tendon sheath consists of a visceral and parietal layer separated by synovial fluid, which keeps the tendon moist and lubricated UBERON:0000304 https://www.kenhub.com/en/library/anatomy/tendon-sheaths-in-the-foot any structural anomaly of the central portion of the common tendon of the quadriceps femoris; it is attached to the apex of the patella and to the lower part of the tubercle of the tibia; it is sometimes called the patellar tendon as it is a continuation of the quadriceps tendon 2018-09-24T10:00:59Z abnormal ligamentum patellae morphology MPheno.ontology abnormal patellar tendon morphology MP:0030800 abnormal patellar ligament morphology MP:0030800 any structural anomaly of the central portion of the common tendon of the quadriceps femoris; it is attached to the apex of the patella and to the lower part of the tubercle of the tibia; it is sometimes called the patellar tendon as it is a continuation of the quadriceps tendon EMAPA:18509 UBERON:0003676 https://en.wikipedia.org/wiki/Patellar_ligament abnormal patellar tendon morphology UBERON:0003676 inflammation of a tendon 2018-09-24T10:25:26Z tendinitis tendon inflammation MPheno.ontology MP:0030801 tendonitis MP:0030801 inflammation of a tendon HP:0025230 any functional anomaly of the fibrous bands or cords of connective tissue at the ends of muscle fibers that attach muscles to bones and other structures 2018-09-24T10:48:34Z MPheno.ontology MP:0030802 abnormal tendon physiology MP:0030802 any functional anomaly of the fibrous bands or cords of connective tissue at the ends of muscle fibers that attach muscles to bones and other structures https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the elongated fibrocytes in which the cytoplasm is stretched between the collagen fibers of the tendon; tendon cells have a central cell nucleus with a prominent nucleolus, a well-developed rough endoplasmic reticulum, and are responsible for synthesis and turnover of tendon fibers and ground substance 2018-09-24T11:08:08Z abnormal muscle attachment cell morphology MPheno.ontology abnormal tenocyte morphology MP:0030803 abnormal tendon cell morphology MP:0030803 any structural anomaly of any of the elongated fibrocytes in which the cytoplasm is stretched between the collagen fibers of the tendon; tendon cells have a central cell nucleus with a prominent nucleolus, a well-developed rough endoplasmic reticulum, and are responsible for synthesis and turnover of tendon fibers and ground substance CL:0000388 https://en.wikipedia.org/wiki/Tendon_cell any structural anomaly of any joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity (e.g. temporomandibular joint, knee joint) 2018-09-24T11:27:13Z abnormal articulatio synoviale morphology abnormal diarthrosis joint morphology MPheno.ontology MP:0030804 abnormal synovial joint morphology MP:0030804 any structural anomaly of any joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity (e.g. temporomandibular joint, knee joint) EMAPA:36700 UBERON:0002217 any structural anomaly of any joint that is part of a (free) limb 2018-09-24T11:50:30Z abnormal skeletal limb joint morphology MPheno.ontology MP:0030805 most limb joints are synovial, but a few such as the tibiofibular joints are syndesmoses abnormal limb joint morphology MP:0030805 any structural anomaly of any joint that is part of a (free) limb EMAPA:36501 UBERON:0003657 most limb joints are synovial, but a few such as the tibiofibular joints are syndesmoses UBERON:0003657 any structural anomaly of any limb joint that is part of an autopod 2018-09-24T11:57:25Z abnormal autopod limb joint morphology MPheno.ontology abnormal paw joint morphology MP:0030806 abnormal autopod joint morphology MP:0030806 any structural anomaly of any limb joint that is part of an autopod EMAPA:35160 UBERON:0003841 any structural anomaly of any limb joint that is part of a forelimb 2018-09-24T12:06:02Z MPheno.ontology MP:0030807 abnormal forelimb joint morphology MP:0030807 any structural anomaly of any limb joint that is part of a forelimb EMAPA:19204 UBERON:0003839 any structural anomaly of any limb joint that is part of a hindlimb 2018-09-24T12:11:32Z abnormal hind limb joint morphology MPheno.ontology MP:0030808 abnormal hindlimb joint morphology MP:0030808 any structural anomaly of any limb joint that is part of a hindlimb EMAPA:32635 UBERON:0003840 any structural anomaly of the hinge joint between the head of the radius and the capitulum of the humerus 2018-09-26T07:28:32Z abnormal articulatio humeroradialis morphology abnormal humero-radial joint morphology abnormal radio-humeral joint morphology abnormal radiohumeral joint morphology MPheno.ontology MP:0030809 abnormal humeroradial joint morphology MP:0030809 any structural anomaly of the hinge joint between the head of the radius and the capitulum of the humerus UBERON:0011111 abnormal radiohumeral joint morphology https://radiopaedia.org/articles/elbow any structural anomaly of either of a pair of condyloid synovial joints between the superior articular facets of the atlas and the condyles of the occipital bone 2018-09-26T09:28:04Z abnormal articulatio atlanto-occipitalis morphology abnormal atlantooccipital joint morphology abnormal craniovertebral joint morphology abnormal occipito-atlantal joint morphology MPheno.ontology MP:0030810 abnormal atlanto-occipital joint morphology MP:0030810 any structural anomaly of either of a pair of condyloid synovial joints between the superior articular facets of the atlas and the condyles of the occipital bone UBERON:0000220 https://books.google.com/books?isbn=9350901994 any structural anomaly of any skeletal joint that is part of a hand (manus) 2018-09-26T09:46:40Z abnormal manus joint morphology MPheno.ontology MP:0030811 abnormal hand joint morphology MP:0030811 any structural anomaly of any skeletal joint that is part of a hand (manus) UBERON:0001489 any structural anomaly of any of the condylar or ellipsoid synovial joints between the heads of the metacarpal bones and the bases of the proximal phalanges 2018-09-26T09:56:32Z abnormal MCP joint morphology abnormal metacarpal-phalangeal joint morphology MPheno.ontology MP:0030812 abnormal metacarpophalangeal joint morphology MP:0030812 any structural anomaly of any of the condylar or ellipsoid synovial joints between the heads of the metacarpal bones and the bases of the proximal phalanges EMAPA:19302 UBERON:0003695 https://books.google.com/books?isbn=0781774357, any structural anomaly of any hinge-joints of the phalanges of the hand; there are two sets in each finger (except in the thumb): (i) proximal interphalangeal joints (PIP), those between the first (also called proximal) and second (intermediate) phalanges and (ii) distal interphalangeal joints (DIP), those between the second and third (distal) phalanges; a similar group of articulations also function in the toes 2018-09-26T10:02:54Z abnormal forelimb digit inter-phalangeal joint abnormal interphalangeal joint of hand morphology abnormal interphalangeal joint of manus morphology abnormal manus interphalangeal joint morphology MPheno.ontology MP:0030813 abnormal hand interphalangeal joint morphology MP:0030813 any structural anomaly of any hinge-joints of the phalanges of the hand; there are two sets in each finger (except in the thumb): (i) proximal interphalangeal joints (PIP), those between the first (also called proximal) and second (intermediate) phalanges and (ii) distal interphalangeal joints (DIP), those between the second and third (distal) phalanges; a similar group of articulations also function in the toes EMAPA:36336 UBERON:0007722 https://en.wikipedia.org/wiki/Interphalangeal_joints_of_the_hand any structural anomaly of the joint connecting the forelimb zeugopod skeleton with the carpal skeleton 2018-09-26T10:20:09Z abnormal carpal region joint morphology MPheno.ontology MP:0030814 abnormal wrist joint morphology MP:0030814 any structural anomaly of the joint connecting the forelimb zeugopod skeleton with the carpal skeleton UBERON:0001491 any structural anomaly of the major condyloid synovial joint of the wrist which occurs proximally between the distal end of the radius and the articular disc of the distal radioulnar joint, and distally by the proximal carpal row (the scaphoid, lunate and triquetral bones) 2018-09-26T10:24:29Z abnormal radio-carpal joint morphology abnormal radiocarpal articulation morphology MPheno.ontology MP:0030815 abnormal radiocarpal joint morphology MP:0030815 any structural anomaly of the major condyloid synovial joint of the wrist which occurs proximally between the distal end of the radius and the articular disc of the distal radioulnar joint, and distally by the proximal carpal row (the scaphoid, lunate and triquetral bones) UBERON:0011968 https://radiopaedia.org/articles/radiocarpal-joint any structural anomaly of the joint that is formed by the union of the humerus, the scapula (or shoulder blade), and the clavicle (or collarbone) 2018-09-26T10:42:14Z MPheno.ontology MP:0030816 abnormal shoulder joint morphology MP:0030816 any structural anomaly of the joint that is formed by the union of the humerus, the scapula (or shoulder blade), and the clavicle (or collarbone) UBERON:0016884 any structural anomaly of the main articulation of the shoulder joint; the glenohumeral joint is the multiaxial ball-and-socket synovial joint formed by the articular surfaces of the glenoid cavity of the scapula and the head of the humerus 2018-09-26T10:51:51Z MPheno.ontology MP:0030817 abnormal glenohumeral joint morphology MP:0030817 any structural anomaly of the main articulation of the shoulder joint; the glenohumeral joint is the multiaxial ball-and-socket synovial joint formed by the articular surfaces of the glenoid cavity of the scapula and the head of the humerus https://emedicine.medscape.com/article/1899211-overview any structural anomaly of any skeletal joint that is part of an appendage girdle region 2018-09-26T11:00:47Z MPheno.ontology MP:0030818 abnormal girdle joint morphology MP:0030818 any structural anomaly of any skeletal joint that is part of an appendage girdle region EMAPA:36914 UBERON:0008114 any structural anomaly of any synovial joint that is part of a pelvic girdle region 2018-09-26T11:12:28Z abnormal synovial joint of pelvic girdle morphology MPheno.ontology MP:0030819 abnormal pelvic girdle joint morphology MP:0030819 any structural anomaly of any synovial joint that is part of a pelvic girdle region UBERON:0011107 any structural anomaly of any synovial joint that is part of a pectoral girdle region 2018-09-26T11:21:20Z abnormal joint of shoulder girdle morphology abnormal synovial joint of pectoral girdle morphology MPheno.ontology MP:0030820 abnormal pectoral girdle joint morphology MP:0030820 any structural anomaly of any synovial joint that is part of a pectoral girdle region UBERON:0011108 any structural anomaly of the synovial joint that forms between the lateral articulating surfaces of the sacrum and the articulating surfaces of the ilium; it is supported by a number of strong ligaments which increase joint stability and reduce the incidence of dislocations 2018-09-26T11:51:52Z abnormal SI joint morphology abnormal sacro-iliac joint morphology MPheno.ontology MP:0030821 abnormal sacroiliac joint morphology MP:0030821 any structural anomaly of the synovial joint that forms between the lateral articulating surfaces of the sacrum and the articulating surfaces of the ilium; it is supported by a number of strong ligaments which increase joint stability and reduce the incidence of dislocations UBERON:0001365 https://www.kenhub.com/en/library/anatomy/sacroiliac-joint inflammation of one or both of the sacroiliac joints; it may be a symptom of other inflammatory arthritic conditions 2018-09-26T11:58:32Z SI joint inflammation sacroiliac arthritis sacroiliitis MPheno.ontology MP:0030822 sacroiliac joint inflammation MP:0030822 inflammation of one or both of the sacroiliac joints; it may be a symptom of other inflammatory arthritic conditions https://orcid.org/0000-0002-6490-7723 https://www.arthritis-health.com/types/general/sacroiliac-joint-pain-and-inflammation greater than average size of the long bone of the thigh (femur) 2018-10-01T09:13:26Z enlarged femur increased femoral size large femur MPheno.ontology MP:0030823 increased femur size MP:0030823 greater than average size of the long bone of the thigh (femur) https://orcid.org/0000-0002-6490-7723 greater than average weight of the long bone of the thigh (femur) 2018-10-01T09:19:56Z increased femoral weight MPheno.ontology MP:0030824 increased femur weight MP:0030824 greater than average weight of the long bone of the thigh (femur) https://orcid.org/0000-0002-6490-7723 less than average size of the long bone of the thigh (femur) 2018-10-01T09:28:28Z decreased femoral size reduced femoral size reduced femur size small femur MPheno.ontology MP:0030825 decreased femur size MP:0030825 less than average size of the long bone of the thigh (femur) https://orcid.org/0000-0002-6490-7723 less than average weight of the long bone of the thigh (femur) 2018-10-01T09:34:41Z decreased femoral weight reduced femoral weight reduced femur weight MPheno.ontology MP:0030826 decreased femur weight MP:0030826 less than average weight of the long bone of the thigh (femur) https://orcid.org/0000-0002-6490-7723 a crack or break in the long bone of the thigh (femur) 2018-10-01T09:43:28Z femoral fracture femur fractures MPheno.ontology MP:0030827 femur fracture MP:0030827 a crack or break in the long bone of the thigh (femur) https://orcid.org/0000-0002-6490-7723 any structural anomaly of the large opening created by the ischium and pubis bones of the pelvis through which nerves and blood vessels pass 2018-10-01T09:59:25Z abnormal foramen obturatorium morphology MPheno.ontology abnormal foramen obturatum morphology MP:0030828 abnormal obturator foramen morphology MP:0030828 any structural anomaly of the large opening created by the ischium and pubis bones of the pelvis through which nerves and blood vessels pass UBERON:0006803 any structural anomaly of the multi-axial, ball-and-socket synovial joint between the femur head and the acetabulum of the innominate bone 2018-10-01T10:19:53Z abnormal acetabulo-femoral joint morphology abnormal acetabulofemoral joint morphology abnormal articulatio coxofemoralis morphology abnormal femoro-acetabular joint morphology abnormal femoro-iliac joint morphology abnormal femoroacetabular joint morphology abnormal femoroiliac joint morphology MPheno.ontology MP:0030829 abnormal hip joint morphology MP:0030829 any structural anomaly of the multi-axial, ball-and-socket synovial joint between the femur head and the acetabulum of the innominate bone UBERON:0001486 https://en.wikipedia.org/wiki/Hip#Articulation https://www.ncbi.nlm.nih.gov/books/NBK526019/ any structural anomaly of the large cup-shaped cavity on the anterolateral aspect of the pelvis that articulates with the femoral head to form the hip joint; it is formed by the three bones of the pelvis (the ischium, ilium and pubis) and is the socket portion of the ball-and-socket hip joint 2018-10-01T10:53:48Z abnormal acetabular cavity morphology abnormal acetabular region morphology abnormal acetabular socket morphology abnormal cotyloid cavity morphology abnormal hip socket morphology MPheno.ontology MP:0030830 abnormal acetabulum morphology MP:0030830 any structural anomaly of the large cup-shaped cavity on the anterolateral aspect of the pelvis that articulates with the femoral head to form the hip joint; it is formed by the three bones of the pelvis (the ischium, ilium and pubis) and is the socket portion of the ball-and-socket hip joint https://en.wikipedia.org/wiki/Acetabulum https://radiopaedia.org/articles/acetabulum any structural anomaly of the shallow, pyriform articular surface located on the lateral angle of the scapula; it is directed laterally and forward and articulates with the head of the humerus 2018-10-01T11:40:47Z abnormal glenoid cavity morphology abnormal glenoid fossa of scapula morphology MPheno.ontology MP:0030831 abnormal glenoid fossa morphology MP:0030831 any structural anomaly of the shallow, pyriform articular surface located on the lateral angle of the scapula; it is directed laterally and forward and articulates with the head of the humerus HP:0011912 https://en.wikipedia.org/wiki/Glenoid_cavity any structural anomaly of the hook-shaped bone structure that projects anterolaterally from the superior aspect of the scapular neck and serves as an important anchor for several tendinous and ligamentous structures 2018-10-01T11:54:55Z abnormal coracoid process of scapula morphology MPheno.ontology MP:0030832 abnormal scapular coracoid process morphology MP:0030832 any structural anomaly of the hook-shaped bone structure that projects anterolaterally from the superior aspect of the scapular neck and serves as an important anchor for several tendinous and ligamentous structures https://pubs.rsna.org/doi/pdf/10.1148/rg.2016160039 reduced size of the outer end of the spine of the scapula that protects the glenoid cavity, forms the outer angle of the shoulder, and articulates with the clavicle 2018-10-01T12:42:02Z decreased acromion size reduced acromion size small acromial process small acromion process MPheno.ontology MP:0030833 small acromion MP:0030833 reduced size of the outer end of the spine of the scapula that protects the glenoid cavity, forms the outer angle of the shoulder, and articulates with the clavicle https://www.merriam-webster.com/medical/acromion decrease in the number of normal cells in normal arrangement in the acromion, typically resulting in decreased size 2018-10-01T12:47:25Z acromial process hypoplasia acromion process hypoplasia hypoplastic acromial process hypoplastic acromion hypoplastic acromion process MPheno.ontology MP:0030834 acromion hypoplasia MP:0030834 decrease in the number of normal cells in normal arrangement in the acromion, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 https://www.merriam-webster.com/medical/acromion any structural anomaly of a joint that connects the hindlimb autopod and zeugopod skeletons 2018-10-01T12:54:17Z MPheno.ontology MP:0030835 abnormal ankle joint morphology MP:0030835 any structural anomaly of a joint that connects the hindlimb autopod and zeugopod skeletons UBERON:0001488 any structural anomaly of a joint that connects the tibia and the fibula 2018-10-01T13:09:23Z abnormal fibulatibial joint morphology abnormal fibulotibial joint morphology abnormal tibiafibular joint morphology MPheno.ontology MP:0030836 abnormal tibiofibular joint morphology MP:0030836 any structural anomaly of a joint that connects the tibia and the fibula UBERON:0011112 any structural anomaly of the synovial hinge joint formed between the femur, tibia, and patella; it involves two articulations: the tibiofemoral joint, connecting the proximal tibia to the distal femur, and the patellofemoral joint, connecting the patella to the femur; the knee joint allows flexion and extension of the leg, as well as slight medial rotation in end extension, and lateral rotation when unlocking the knee 2018-10-03T07:45:26Z MPheno.ontology MP:0030837 abnormal knee joint morphology MP:0030837 any structural anomaly of the synovial hinge joint formed between the femur, tibia, and patella; it involves two articulations: the tibiofemoral joint, connecting the proximal tibia to the distal femur, and the patellofemoral joint, connecting the patella to the femur; the knee joint allows flexion and extension of the leg, as well as slight medial rotation in end extension, and lateral rotation when unlocking the knee https://www.kenhub.com/en/library/anatomy/the-knee-joint any structural anomaly of the roughened depression in the acetabular floor which extends superiorly from the acetabular notch and hosts the ligamentum teres 2018-10-03T08:17:17Z MPheno.ontology MP:0030838 abnormal acetabular fossa morphology MP:0030838 any structural anomaly of the roughened depression in the acetabular floor which extends superiorly from the acetabular notch and hosts the ligamentum teres https://radiopaedia.org/articles/acetabulum any structural anomaly of the deep notch (depression) located anteroinferiorly along the margin of the acetabulum; it is bridged by the transverse ligament and thus forms the acetabular foramen through which nutrient vessels and nerves enter the hip joint; the ligamentum teres has part of its origin from the acetabular notch 2018-10-03T08:36:27Z MPheno.ontology MP:0030839 abnormal acetabular notch morphology MP:0030839 any structural anomaly of the deep notch (depression) located anteroinferiorly along the margin of the acetabulum; it is bridged by the transverse ligament and thus forms the acetabular foramen through which nutrient vessels and nerves enter the hip joint; the ligamentum teres has part of its origin from the acetabular notch UBERON:0014446 https://en.wikipedia.org/wiki/Acetabular_notch https://radiopaedia.org/articles/acetabular-notch any structural anomaly of the horse-shaped fibrocartilaginous structure that attaches to the peripheral rim of the acetabulum, contacts the articular surface of the femoral head, and blends inferiorly with the transverse acetabular ligament; it increases the depth of the acetabulum, increasing static stability and contributes to hydrostatic pressurization of the intra-articular space, joint lubrication, and load distribution 2018-10-03T09:12:31Z MPheno.ontology MP:0030840 abnormal acetabular labrum morphology MP:0030840 any structural anomaly of the horse-shaped fibrocartilaginous structure that attaches to the peripheral rim of the acetabulum, contacts the articular surface of the femoral head, and blends inferiorly with the transverse acetabular ligament; it increases the depth of the acetabulum, increasing static stability and contributes to hydrostatic pressurization of the intra-articular space, joint lubrication, and load distribution https://books.google.com/books?isbn=0323549667 any structural anomaly of the fibrous continuation of the acetabular labrum that is completely collagenous and contains no chondrocytes or cartilage; it consists of strong, flattened fibers which cross the acetabular notch and convert it into the acetabular foramen through which nutrient vessels and nerves enter the hip joint; it prevents inferior displacement of head of femur 2018-10-03T09:36:27Z MPheno.ontology MP:0030841 abnormal transverse acetabular ligament morphology MP:0030841 any structural anomaly of the fibrous continuation of the acetabular labrum that is completely collagenous and contains no chondrocytes or cartilage; it consists of strong, flattened fibers which cross the acetabular notch and convert it into the acetabular foramen through which nutrient vessels and nerves enter the hip joint; it prevents inferior displacement of head of femur http://www.anatomyexpert.com/app/structure/15415/ https://en.wikipedia.org/wiki/Transverse_acetabular_ligament missing the irregular depression normally found on the posterior inner surface of the petrous portion of the temporal bone just below its crest and above and lateral to the internal acoustic meatus 2018-10-09T10:31:54Z absent floccular fossa MPheno.ontology MP:0030842 absent subarcuate fossa MP:0030842 missing the irregular depression normally found on the posterior inner surface of the petrous portion of the temporal bone just below its crest and above and lateral to the internal acoustic meatus ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet 2018-10-09T10:54:51Z dislocated elbow dislocated elbows MPheno.ontology MP:0030843 elbow dislocation MP:0030843 dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet HP:0003042 any structural anomaly of the flattened medial portion of the pubic bone entering into the pubic symphysis; superior and inferior rami extend from it; the body forms one-fifth of the acetabulum, contributing by its external surface both to the lunate surface and the acetabular fossa; its internal surface enters into the formation of the wall of the lesser pelvis and gives origin to a portion of the obturator internus 2018-10-09T11:10:35Z abnormal pubic body morphology abnormal pubic bone body morphology MPheno.ontology MP:0030844 abnormal pubis body morphology MP:0030844 any structural anomaly of the flattened medial portion of the pubic bone entering into the pubic symphysis; superior and inferior rami extend from it; the body forms one-fifth of the acetabulum, contributing by its external surface both to the lunate surface and the acetabular fossa; its internal surface enters into the formation of the wall of the lesser pelvis and gives origin to a portion of the obturator internus https://en.wikipedia.org/wiki/Pubis_(bone) https://medical-dictionary.thefreedictionary.com/body+of+pubis any structural anomaly of either of the two bar-like processes (branches or rami) of the pubic bone that extend laterally and posteriorly from the pubic symphysis; the inferior ramus articulates with the ischium; the superior ramus articulates with the ilium and forms the front of the acetabulum 2018-10-09T11:24:22Z MPheno.ontology MP:0030845 abnormal pubic ramus morphology MP:0030845 any structural anomaly of either of the two bar-like processes (branches or rami) of the pubic bone that extend laterally and posteriorly from the pubic symphysis; the inferior ramus articulates with the ischium; the superior ramus articulates with the ilium and forms the front of the acetabulum https://medical-dictionary.thefreedictionary.com/pubic+ramus any structural anomaly of the bar of bone, triangular in section, which extends posterosuperiorly from the body of the pubis to form the superior boundary of the obturator foramen; it contributes about one fifth of the articular surface of the acetabulum 2018-10-09T11:30:56Z abnormal superior branch of the pubic bone morphology MPheno.ontology MP:0030846 abnormal superior pubic ramus morphology MP:0030846 any structural anomaly of the bar of bone, triangular in section, which extends posterosuperiorly from the body of the pubis to form the superior boundary of the obturator foramen; it contributes about one fifth of the articular surface of the acetabulum https://medical-dictionary.thefreedictionary.com/superior+pubic+ramus any structural anomaly of the inferior extension from body of pubic bone that meets with the ramus of the ischium below the obturator foramen to form the ischiopubic ramus 2018-10-09T11:38:05Z abnormal inferior branch of the pubic bone morphology MPheno.ontology MP:0030847 abnormal inferior pubic ramus morphology MP:0030847 any structural anomaly of the inferior extension from body of pubic bone that meets with the ramus of the ischium below the obturator foramen to form the ischiopubic ramus https://medical-dictionary.thefreedictionary.com/inferior+pubic+ramus reduced length of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis 2018-10-09T11:53:29Z decreased iliac bone length decreased ilium length reduced ilium length shortened ilium MPheno.ontology MP:0030848 short ilium MP:0030848 reduced length of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis https://orcid.org/0000-0002-6490-7723 increased width of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis 2018-10-09T11:58:44Z increased iliac bone width increased ilium width MPheno.ontology MP:0030849 wide ilium MP:0030849 increased width of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis https://orcid.org/0000-0002-6490-7723 any structural anomaly of the thick lower part (base) of the ilium that forms about the upper two-fifths of the acetabulum; its external surface is partly articular, partly non-articular; the articular segment forms part of the lunate surface of the acetabulum, the non-articular portion contributes to the acetabular fossa; the internal surface of the body is part of the wall of the lesser pelvis and gives origin to some fibers of the obturator internus; below, it is continuous with the pelvic surfaces of the ischium and pubis, only a faint line indicating the place of union 2018-10-09T12:03:10Z abnormal iliac bone body morphology MPheno.ontology MP:0030850 abnormal ilium body morphology MP:0030850 any structural anomaly of the thick lower part (base) of the ilium that forms about the upper two-fifths of the acetabulum; its external surface is partly articular, partly non-articular; the articular segment forms part of the lunate surface of the acetabulum, the non-articular portion contributes to the acetabular fossa; the internal surface of the body is part of the wall of the lesser pelvis and gives origin to some fibers of the obturator internus; below, it is continuous with the pelvic surfaces of the ischium and pubis, only a faint line indicating the place of union UBERON:0010747 http://www.anatomyexpert.com/app/structure/127/833/ any structural anomaly of the large, smooth, concave surface on the internal surface of the ilium; the fossa is bounded above by the iliac crest, below by the arcuate line, and in front and behind, by the anterior and posterior borders of the ilium; it gives origin to the iliacus muscle 2018-10-09T12:12:02Z MPheno.ontology MP:0030851 abnormal iliac fossa morphology MP:0030851 any structural anomaly of the large, smooth, concave surface on the internal surface of the ilium; the fossa is bounded above by the iliac crest, below by the arcuate line, and in front and behind, by the anterior and posterior borders of the ilium; it gives origin to the iliacus muscle https://en.wikipedia.org/wiki/Iliac_fossa any structural anomaly of the large, expanded (wing-like) portion of the ilium which bounds the greater pelvis laterally 2018-10-09T12:27:44Z abnormal iliac blade morphology abnormal ilium ala morphology MPheno.ontology MP:0030852 abnormal ilium wing morphology MP:0030852 any structural anomaly of the large, expanded (wing-like) portion of the ilium which bounds the greater pelvis laterally UBERON:0010746 https://en.wikipedia.org/wiki/Wing_of_ilium any structural anomaly of the superior border of the wing of ilium and the superolateral margin of the greater pelvis; it runs from the anterior superior iliac spine to the posterior superior iliac spine; many of the important abdominal and core muscles are attached to the iliac crest 2018-10-09T12:41:49Z MPheno.ontology MP:0030853 abnormal iliac crest morphology MP:0030853 any structural anomaly of the superior border of the wing of ilium and the superolateral margin of the greater pelvis; it runs from the anterior superior iliac spine to the posterior superior iliac spine; many of the important abdominal and core muscles are attached to the iliac crest https://en.wikipedia.org/wiki/Iliac_crest https://www.verywellhealth.com/iliac-crest-definition-3120351 separation of the joints formed by the occipital condyles and the atlas (C-1) 2018-10-09T13:46:13Z MPheno.ontology MP:0030854 atlanto-occipital joint dislocation MP:0030854 separation of the joints formed by the occipital condyles and the atlas (C-1) https://thejns.org/doi/pdf/10.3171/2012.10.SPINE12430 any structural anomaly of the deep triangular depression on the posterior side of the humerus, superior to the trochlea, in which the summit of the olecranon is received during extension of the forearm 2018-10-10T10:14:55Z abnormal fossa olecrani morphology MPheno.ontology MP:0030855 abnormal olecranon fossa morphology MP:0030855 any structural anomaly of the deep triangular depression on the posterior side of the humerus, superior to the trochlea, in which the summit of the olecranon is received during extension of the forearm https://en.wikipedia.org/wiki/Olecranon_fossa any structural anomaly of the large bony prominence at the proximal end of the ulna which articulates with the olecranon fossa of the humerus and is palpable at the posterior aspect of the elbow; while the olecranon is an attachment site for several muscle groups including the flexor carpi ulnaris and anconeus, the major muscle attachment is that of the triceps brachii muscle 2018-10-10T10:31:48Z abnormal elbow bony tip morphology abnormal olecranon process of ulna morphology MPheno.ontology abnormal ulnar process morphology MP:0030856 abnormal olecranon morphology MP:0030856 any structural anomaly of the large bony prominence at the proximal end of the ulna which articulates with the olecranon fossa of the humerus and is palpable at the posterior aspect of the elbow; while the olecranon is an attachment site for several muscle groups including the flexor carpi ulnaris and anconeus, the major muscle attachment is that of the triceps brachii muscle https://radiopaedia.org/articles/olecranon https://www.medicinenet.com/script/main/art.asp?articlekey=9478 https://www.orthopaedicsone.com/display/MSKMed/Olecranon+fractures missing the large bony prominence at the proximal end of the ulna which articulates with the olecranon fossa of the humerus and is palpable at the posterior aspect of the elbow 2018-10-10T10:39:39Z absent elbow bony tip absent olecranon process of ulna MPheno.ontology absent ulnar process MP:0030857 absent olecranon MP:0030857 missing the large bony prominence at the proximal end of the ulna which articulates with the olecranon fossa of the humerus and is palpable at the posterior aspect of the elbow https://orcid.org/0000-0002-6490-7723 size reduction of the large bony prominence at the proximal end of the ulna which articulates with the olecranon fossa of the humerus and is palpable at the posterior aspect of the elbow 2018-10-10T10:42:34Z decreased olecranon size reduced olecranon size small elbow bony tip small olecranon process of ulna MPheno.ontology reduced olecranon process reduced ulnar process MP:0030858 small olecranon MP:0030858 size reduction of the large bony prominence at the proximal end of the ulna which articulates with the olecranon fossa of the humerus and is palpable at the posterior aspect of the elbow https://orcid.org/0000-0002-6490-7723 missing the small sesamoid bones situated behind the condyles of the femur 2018-10-10T10:51:51Z absent fabella absent fabellae absent medial sesamoid bone of the knee MPheno.ontology MP:0030859 absent sesamoid bone of gastrocnemius MP:0030859 missing the small sesamoid bones situated behind the condyles of the femur https://orcid.org/0000-0002-6490-7723 complete displacement of the patella (kneecap) from its normal position in the patellofemoral groove (trochlea), the V-shaped notch on the front of the femur; the most common direction for a dislocated patella is lateral 2018-10-10T12:35:57Z dislocated kneecap dislocated patella dislocated patellae patellar luxation MPheno.ontology MP:0030860 patellar dislocation MP:0030860 complete displacement of the patella (kneecap) from its normal position in the patellofemoral groove (trochlea), the V-shaped notch on the front of the femur; the most common direction for a dislocated patella is lateral https://www.joionline.net/trending/content/what-recovery-time-dislocated-patella https://www.stoneclinic.com/patelladislocation any structural anomaly of the bone in the proximal row of the carpus that has a pyramidal shape and that is situated between the lunate and pisiform bones 2018-10-15T10:48:04Z abnormal triangular bone morphology abnormal triquetral bone morphology abnormal ulnare morphology MPheno.ontology MP:0030861 abnormal triquetrum morphology MP:0030861 any structural anomaly of the bone in the proximal row of the carpus that has a pyramidal shape and that is situated between the lunate and pisiform bones https://www.merriam-webster.com/medical/triquetral%20bone missing the bone in the proximal row of the carpus that has a pyramidal shape and that is situated between the lunate and pisiform bones 2018-10-15T10:56:16Z absent triangular bone absent triquetral bone absent ulnare MPheno.ontology MP:0030862 absent triquetrum MP:0030862 missing the bone in the proximal row of the carpus that has a pyramidal shape and that is situated between the lunate and pisiform bones https://orcid.org/0000-0002-6490-7723 https://www.merriam-webster.com/medical/triquetral%20bone reduced ability to move joints in a full range of motion and with ease 2018-10-15T11:14:04Z limited joint mobility reduced joint mobility MPheno.ontology MP:0030863 decreased joint mobility MP:0030863 reduced ability to move joints in a full range of motion and with ease https://orcid.org/0000-0002-6490-7723 displacement of any of the small carpal bones which make up the wrist out of their normal position in the wrist joint 2018-10-15T11:25:14Z dislocated wrist MPheno.ontology MP:0030864 wrist dislocation MP:0030864 displacement of any of the small carpal bones which make up the wrist out of their normal position in the wrist joint https://orcid.org/0000-0002-6490-7723 any structural anomaly of the minute space enclosed by the synovial membrane and articular cartilages in a synovial joint; it is the site at which the articulating surfaces of the bones contact each other; it contains synovial fluid, a highly viscous, hyaluronic acid–rich fluid that lubricates the joint surfaces 2018-10-15T12:39:04Z abnormal articular cavity morphology abnormal joint cavity morphology abnormal synovial cavity of joint morphology abnormal synovial space morphology MPheno.ontology MP:0030865 abnormal synovial joint cavity morphology MP:0030865 any structural anomaly of the minute space enclosed by the synovial membrane and articular cartilages in a synovial joint; it is the site at which the articulating surfaces of the bones contact each other; it contains synovial fluid, a highly viscous, hyaluronic acid–rich fluid that lubricates the joint surfaces ISBN:978-0-323-07954-9 https://books.google.com/books?isbn=0803647204 https://opentextbc.ca/anatomyandphysiology/chapter/9-4-synovial-joints/ any structural anomaly of the connective tissue membrane that lines the cavity of a synovial joint and produces the synovial fluid; it lines all internal surfaces of the cavity except for the articular cartilage of the bones 2018-10-15T12:51:55Z abnormal synovial membrane morphology abnormal synovium morphology abnormal stratum synoviale morphology abnormal synovial joint lining morphology abnormal synovial layer of articular capsule morphology abnormal synovial membrane of synovial joint morphology MPheno.ontology MP:0030866 abnormal synovial joint membrane morphology MP:0030866 any structural anomaly of the connective tissue membrane that lines the cavity of a synovial joint and produces the synovial fluid; it lines all internal surfaces of the cavity except for the articular cartilage of the bones ISBN:978-0-323-07954-9 UBERON:0002018 https://medical-dictionary.thefreedictionary.com/synovial+membrane size reduction of the largest of the laryngeal cartilages 2018-10-17T10:31:14Z decreased thyroid cartilage size reduced thyroid cartilage size MPheno.ontology MP:0030867 small thyroid cartilage MP:0030867 size reduction of the largest of the laryngeal cartilages https://orcid.org/0000-0002-6490-7723 missing the largest of the laryngeal cartilages 2018-10-17T10:37:00Z MPheno.ontology MP:0030868 absent thyroid cartilage MP:0030868 missing the largest of the laryngeal cartilages https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the thyroid cartilage, typically resulting in decreased size 2018-10-17T10:42:05Z hypoplastic thyroid cartilage MPheno.ontology MP:0030869 thyroid cartilage hypoplasia MP:0030869 decrease in the number of normal cells in normal arrangement in the thyroid cartilage, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of either of a pair of upward projections from the posterior border of the thyroid cartilage; it is long and narrow, directed upward, backward, and medialward, and ends in a conical extremity, which gives attachment to the lateral hyothyroid ligament 2018-10-17T10:46:00Z abnormal cornu superius cartilaginis thyroideae morphology abnormal superior cornu of thyroid cartilage morphology abnormal superior thyroid cartilage horn morphology abnormal upper thyroid cartilage horn morphology MPheno.ontology MP:0030870 abnormal superior horn of thyroid cartilage morphology MP:0030870 any structural anomaly of either of a pair of upward projections from the posterior border of the thyroid cartilage; it is long and narrow, directed upward, backward, and medialward, and ends in a conical extremity, which gives attachment to the lateral hyothyroid ligament UBERON:0011624 https://en.wikipedia.org/wiki/Thyroid_cartilage any structural anomaly of either of a pair of downward projections from the posterior border of the thyroid cartilage; it is short and thick, directed downward, with a slight inclination forward and medialward, and presents, on the medial side of its tip, a small oval articular facet for articulation with the side of the cricoid cartilage 2018-10-17T11:04:51Z abnormal cornu inferius cartilaginis thyroideae morphology abnormal inferior cornu of thyroid cartilage morphology MPheno.ontology MP:0030871 abnormal inferior horn of thyroid cartilage morphology MP:0030871 any structural anomaly of either of a pair of downward projections from the posterior border of the thyroid cartilage; it is short and thick, directed downward, with a slight inclination forward and medialward, and presents, on the medial side of its tip, a small oval articular facet for articulation with the side of the cricoid cartilage UBERON:0011625 https://en.wikipedia.org/wiki/Thyroid_cartilage size reduction of the most inferior of the laryngeal cartilages 2018-10-17T11:15:01Z decreased cricoid cartilage size reduced cricoid cartilage size MPheno.ontology MP:0030872 small cricoid cartilage MP:0030872 size reduction of the most inferior of the laryngeal cartilages https://orcid.org/0000-0002-6490-7723 missing the most inferior of the laryngeal cartilages 2018-10-17T11:18:17Z MPheno.ontology MP:0030873 absent cricoid cartilage MP:0030873 missing the most inferior of the laryngeal cartilages https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the cricoid cartilage, typically resulting in decreased size 2018-10-17T11:21:41Z hypoplastic cricoid cartilage MPheno.ontology MP:0030874 cricoid cartilage hypoplasia MP:0030874 decrease in the number of normal cells in normal arrangement in the cricoid cartilage, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of any joint that lacks a joint cavity and involves bones that are joined together by either hyaline cartilage or fibrocartilage; there are two main types: synchondroses (or primary cartilaginous joints) where the bones are united by hyaline cartilage, and symphyses (or secondary cartilaginous joints) where the bones are united by a layer of fibrocartilage 2018-10-17T11:32:38Z MPheno.ontology MP:0030875 abnormal cartilaginous joint morphology MP:0030875 any structural anomaly of any joint that lacks a joint cavity and involves bones that are joined together by either hyaline cartilage or fibrocartilage; there are two main types: synchondroses (or primary cartilaginous joints) where the bones are united by hyaline cartilage, and symphyses (or secondary cartilaginous joints) where the bones are united by a layer of fibrocartilage https://opentextbc.ca/anatomyandphysiology/chapter/9-3-cartilaginous-joints/ https://teachmeanatomy.info/the-basics/joints-basic/classification-of-joints/ any structural anomaly of the hyaline cartilaginous joint (synchondrosis) between each rib and its costal cartilage; the articulation is between the cup-shaped depression in the sternal end of a rib and the lateral end of a costal cartilage; the rib and its cartilage are firmly bound together by the continuity of the periosteum of the rib with the perichondrium of the cartilage; no movement normally occurs at these joints 2018-10-17T11:59:45Z abnormal chondrocostal synchondrosis abnormal costo-chondral junction morphology abnormal costochondral junction morphology abnormal costochondral synchondrosis MPheno.ontology MP:0030876 abnormal costochondral joint morphology MP:0030876 any structural anomaly of the hyaline cartilaginous joint (synchondrosis) between each rib and its costal cartilage; the articulation is between the cup-shaped depression in the sternal end of a rib and the lateral end of a costal cartilage; the rib and its cartilage are firmly bound together by the continuity of the periosteum of the rib with the perichondrium of the cartilage; no movement normally occurs at these joints UBERON:0002293 https://www.kenhub.com/en/library/anatomy/thoracic-cage any structural anomaly of any cartilaginous joint in which the articulating bones or cartilages are connected by fibrocartilage; a symphysis is a slightly movable joint (amphiarthrosis) 2018-10-17T12:20:07Z abnormal secondary cartilaginous joint morphology MPheno.ontology MP:0030877 abnormal symphysis morphology MP:0030877 any structural anomaly of any cartilaginous joint in which the articulating bones or cartilages are connected by fibrocartilage; a symphysis is a slightly movable joint (amphiarthrosis) UBERON:0002216 https://en.wikipedia.org/wiki/Symphysis any structural anomaly of any joint that lacks a joint cavity and involves bones that are joined together by dense fibrous connective tissue, consisting mainly of collagen; most (but not all) fibrous joints are immovable (synarthroses) 2018-10-17T12:49:17Z MPheno.ontology MP:0030878 abnormal fibrous joint morphology MP:0030878 any structural anomaly of any joint that lacks a joint cavity and involves bones that are joined together by dense fibrous connective tissue, consisting mainly of collagen; most (but not all) fibrous joints are immovable (synarthroses) https://en.wikipedia.org/wiki/Fibrous_joint https://www.visiblebody.com/learn/skeleton/joints-and-ligaments any structural anomaly of any fibrous joint where the gap between two adjacent bones may be narrow, with the bones joined by ligaments, or the gap may be wide and filled in by a broad sheet of connective tissue called an interosseous membrane; syndemoses are slightly moveable (amphiarthrodial) 2018-10-17T13:03:59Z abnormal syndesmodial joint morphology abnormal syndesmotic joint morphology MPheno.ontology MP:0030879 abnormal syndesmosis morphology MP:0030879 any structural anomaly of any fibrous joint where the gap between two adjacent bones may be narrow, with the bones joined by ligaments, or the gap may be wide and filled in by a broad sheet of connective tissue called an interosseous membrane; syndemoses are slightly moveable (amphiarthrodial) https://en.wikipedia.org/wiki/Fibrous_joint https://opentextbc.ca/anatomyandphysiology/chapter/9-2-fibrous-joints/ any structural anomaly of the partly adipose wedge-shaped mass formed in the anterior region of the knee that is intracapsular but extrasynovial (and thus extra-articular); it extends superiorly from the patella and alar folds to the tibia and infrapatellar bursa and is delimited anteriorly by the patellar ligament and joint capsule and posteriorly by the synovial membrane 2018-10-19T10:38:06Z abnormal Hoffa fat pad morphology MPheno.ontology MP:0030880 abnormal infrapatellar fat pad morphology MP:0030880 any structural anomaly of the partly adipose wedge-shaped mass formed in the anterior region of the knee that is intracapsular but extrasynovial (and thus extra-articular); it extends superiorly from the patella and alar folds to the tibia and infrapatellar bursa and is delimited anteriorly by the patellar ligament and joint capsule and posteriorly by the synovial membrane PMID:25018130 any structural anomaly of the segment of the hindlimb that corresponds to the joint connecting a hindlimb stylopod and zeugopod 2018-10-19T10:50:54Z abnormal knee region morphology MPheno.ontology MP:0030881 abnormal knee morphology MP:0030881 any structural anomaly of the segment of the hindlimb that corresponds to the joint connecting a hindlimb stylopod and zeugopod UBERON:0001465 any structural anomaly of the proximal articular surface of the radius that forms part of the elbow joint and that is palpable on the lateral side of the elbow, immediately distal to the lateral epicondyle of the humerus; the radial head articulates with the ulna at the proximal radioulnar joint and with the humerus at the radiohumeral joint; at the proximal radioulnar joint, the radial head sits in the radial notch of the proximal ulna and is held in place by the annular ligaments; at the radiohumeral joint, the radial head sits adjacent to the capitellum of the humerus 2018-10-19T11:18:01Z abnormal caput radii morphology abnormal head of radius morphology abnormal radial head morphology MPheno.ontology MP:0030882 abnormal radius head morphology MP:0030882 any structural anomaly of the proximal articular surface of the radius that forms part of the elbow joint and that is palpable on the lateral side of the elbow, immediately distal to the lateral epicondyle of the humerus; the radial head articulates with the ulna at the proximal radioulnar joint and with the humerus at the radiohumeral joint; at the proximal radioulnar joint, the radial head sits in the radial notch of the proximal ulna and is held in place by the annular ligaments; at the radiohumeral joint, the radial head sits adjacent to the capitellum of the humerus https://radiopaedia.org/articles/radial-head a dislocation of the head of the radius from its socket in the elbow joint 2018-10-19T11:29:17Z dislocated radial head radial head dislocation radius head dislocation MPheno.ontology MP:0030883 dislocated radius head MP:0030883 a dislocation of the head of the radius from its socket in the elbow joint HP:0003083 abnormal expansion of the anterior rib ends at the costochondral junctions; most frequently seen in rickets as nodularity (prominent bony knobs) at the costochondral junctions 2018-10-19T11:47:49Z beaded ribs beading of the ribs rib beading MPheno.ontology MP:0030884 rachitic rosary MP:0030884 abnormal expansion of the anterior rib ends at the costochondral junctions; most frequently seen in rickets as nodularity (prominent bony knobs) at the costochondral junctions https://radiopaedia.org/articles/rachitic-rosary greater than average size of the short bone of the lateral forearm 2018-10-19T12:30:59Z enlarged radius increased radius bone size large radius MPheno.ontology MP:0030885 increased radius size MP:0030885 greater than average size of the short bone of the lateral forearm https://orcid.org/0000-0002-6490-7723 less than average size of the short bone of the lateral forearm 2018-10-19T12:34:58Z decreased radius bone size reduced radius bone size reduced radius size small radius MPheno.ontology MP:0030886 decreased radius size MP:0030886 less than average size of the short bone of the lateral forearm https://orcid.org/0000-0002-6490-7723 any structural anomaly of the synovial joint between the clavicle and the manubrium of the sternum; it is the only attachment of the upper limb to the axial skeleton and consists of the sternal end of the clavicle, the manubrium of the sternum, and part of the first costal cartilage; the articular surfaces are covered with fibrocartilage (as opposed to hyaline cartilage); the joint is separated into two compartments by a fibrocartilaginous articular disk 2018-10-24T10:31:51Z abnormal sterno-clavicular joint morphology abnormal sternoclavicular articulation morphology MPheno.ontology MP:0030887 abnormal sternoclavicular joint morphology MP:0030887 any structural anomaly of the synovial joint between the clavicle and the manubrium of the sternum; it is the only attachment of the upper limb to the axial skeleton and consists of the sternal end of the clavicle, the manubrium of the sternum, and part of the first costal cartilage; the articular surfaces are covered with fibrocartilage (as opposed to hyaline cartilage); the joint is separated into two compartments by a fibrocartilaginous articular disk https://teachmeanatomy.info/upper-limb/joints/sternoclavicular/ missing the paired triangular cartilages that normally are located postlaterally at the level of the thyroid cartilage 2018-10-24T10:47:41Z MPheno.ontology MP:0030888 absent arytenoid cartilage MP:0030888 missing the paired triangular cartilages that normally are located postlaterally at the level of the thyroid cartilage https://orcid.org/0000-0002-6490-7723 size reduction of the paired triangular cartilages located postlaterally at the level of the thyroid cartilage 2018-10-24T10:52:30Z decreased arytenoid cartilage size reduced arytenoid cartilage size MPheno.ontology MP:0030889 small arytenoid cartilage MP:0030889 size reduction of the paired triangular cartilages located postlaterally at the level of the thyroid cartilage https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the arytenoid cartilage, typically resulting in decreased size 2018-10-24T10:55:41Z hypoplastic arytenoid cartilage MPheno.ontology MP:0030890 arytenoid cartilage hypoplasia MP:0030890 decrease in the number of normal cells in normal arrangement in the arytenoid cartilage, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 size reduction of the most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink 2018-10-24T11:02:23Z decreased epiglottis size reduced epiglottis size MPheno.ontology MP:0030891 small epiglottis MP:0030891 size reduction of the most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the epiglottis, typically resulting in decreased size 2018-10-24T11:06:13Z hypoplastic epiglottis MPheno.ontology MP:0030892 epiglottis hypoplasia MP:0030892 decrease in the number of normal cells in normal arrangement in the epiglottis, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increased size of the most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink 2018-10-24T11:16:22Z increased epiglottis size large epiglottis MPheno.ontology MP:0030893 enlarged epiglottis MP:0030893 increased size of the most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the epiglottis, typically resulting in increased size 2018-10-24T11:19:16Z hyperplastic epiglottis MPheno.ontology MP:0030894 epiglottis hyperplasia MP:0030894 increase in the number of normal cells in normal arrangement in the epiglottis, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the modified hinge synovial joint that joins the distal femur to the proximal tibia; it is the weight-bearing joint of the knee; the articulation occurs between the medial and lateral femoral condyles and the tibial condyles 2018-10-24T11:33:42Z abnormal femoro-tibial joint morphology abnormal femorotibial joint morphology abnormal femuro-tibial joint morphology MPheno.ontology MP:0030895 abnormal tibiofemoral joint morphology MP:0030895 any structural anomaly of the modified hinge synovial joint that joins the distal femur to the proximal tibia; it is the weight-bearing joint of the knee; the articulation occurs between the medial and lateral femoral condyles and the tibial condyles https://radiopaedia.org/articles/tibiofemoral-joint https://teachmeanatomy.info/lower-limb/joints/the-knee-joint/ any structural anomaly of the synovial joint between the condyles of the femur and the articular surface of the patella 2018-10-24T12:02:28Z abnormal femoro-patellar joint morphology abnormal femoropatellar joint morphology abnormal patello-femoral joint morphology MPheno.ontology MP:0030896 abnormal patellofemoral joint morphology MP:0030896 any structural anomaly of the synovial joint between the condyles of the femur and the articular surface of the patella https://radiopaedia.org/articles/patellofemoral-joint any structural anomaly of the simple hinge-type synovial joint between the trochlea on the medial aspect of the distal end of the humerus and the trochlear notch on the proximal ulna 2018-10-24T12:26:26Z abnormal articulatio humeroulnaris morphology abnormal humero-ulnar joint morphology abnormal ulno-humeral joint morphology abnormal ulnohumeral joint morphology MPheno.ontology MP:0030897 abnormal humeroulnar joint morphology MP:0030897 any structural anomaly of the simple hinge-type synovial joint between the trochlea on the medial aspect of the distal end of the humerus and the trochlear notch on the proximal ulna https://www.kenhub.com/en/library/anatomy/elbow-joint any structural anomaly of the synchondrosis type of cartilaginous joint in which hyaline cartilage unites the first rib to the manubrium of the sternum.; it forms an immobile joint (synarthrosis); the rest of the sternocostal joints are synovial plane joints 2018-10-24T12:41:26Z abnormal first sterno-costal joint morphology abnormal fist rib-sternum attachment MPheno.ontology MP:0030898 abnormal first sternocostal joint morphology MP:0030898 any structural anomaly of the synchondrosis type of cartilaginous joint in which hyaline cartilage unites the first rib to the manubrium of the sternum.; it forms an immobile joint (synarthrosis); the rest of the sternocostal joints are synovial plane joints http://oerpub.github.io/epubjs-demo-book/content/m46381.xhtml https://courses.lumenlearning.com/boundless-ap/chapter/cartilaginous-joints/ presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus 2018-10-24T13:08:22Z laryngotracheal cleft laryngotracheoesophageal cleft MPheno.ontology MP:0030899 laryngeal cleft MP:0030899 presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus HP:0008751 less than average size of the medial and larger of the two bones of the forearm 2018-11-16T08:33:04Z reduced ulna size small ulna MPheno.ontology MP:0030900 decreased ulna size MP:0030900 less than average size of the medial and larger of the two bones of the forearm https://orcid.org/0000-0002-6490-7723 greater than average size of the medial and larger of the two bones of the forearm 2018-11-16T08:45:01Z enlarged ulna large ulna MPheno.ontology MP:0030901 increased ulna size MP:0030901 greater than average size of the medial and larger of the two bones of the forearm https://orcid.org/0000-0002-6490-7723 any structural anomaly of the cylindrical, pointed, palpable projection from the medial and posterior aspect of the head of the ulna, to the tip of which is attached the ulnar collateral ligament of the wrist 2018-11-16T09:03:50Z abnormal styloid process of ulna morphology MPheno.ontology MP:0030902 abnormal ulnar styloid process morphology MP:0030902 any structural anomaly of the cylindrical, pointed, palpable projection from the medial and posterior aspect of the head of the ulna, to the tip of which is attached the ulnar collateral ligament of the wrist https://medical-dictionary.thefreedictionary.com/styloid+process reduced size of the cylindric, pointed, palpable projection from the medial and posterior aspect of the head of the ulna, to the tip of which is attached the ulnar collateral ligament of the wrist 2018-11-16T09:34:36Z decreased size of ulnar styloid process reduced size of ulnar styloid process MPheno.ontology MP:0030903 small ulnar styloid process MP:0030903 reduced size of the cylindric, pointed, palpable projection from the medial and posterior aspect of the head of the ulna, to the tip of which is attached the ulnar collateral ligament of the wrist https://medical-dictionary.thefreedictionary.com/styloid+process https://orcid.org/0000-0002-6490-7723 any functional anomaly of a cell that originates from the neural crest and differentiates into a pigment cell 2018-11-16T16:01:35Z MPheno.ontology MP:0030904 abnormal melanoblast physiology MP:0030904 any functional anomaly of a cell that originates from the neural crest and differentiates into a pigment cell https://orcid.org/0000-0002-6490-7723 anomaly in the ability of melanoblasts to undergo expansion by cell division; a melanoblast is a cell that originates from the neural crest and differentiates into a pigment cell 2018-11-16T16:09:08Z MPheno.ontology MP:0030905 abnormal melanoblast proliferation MP:0030905 anomaly in the ability of melanoblasts to undergo expansion by cell division; a melanoblast is a cell that originates from the neural crest and differentiates into a pigment cell https://orcid.org/0000-0002-6490-7723 reduction in the expansion rate of melanoblasts by cell division; a melanoblast is a cell that originates from the neural crest and differentiates into a pigment cell 2018-11-16T16:15:17Z reduced melanoblast proliferation MPheno.ontology MP:0030906 decreased melanoblast proliferation MP:0030906 reduction in the expansion rate of melanoblasts by cell division; a melanoblast is a cell that originates from the neural crest and differentiates into a pigment cell https://orcid.org/0000-0002-6490-7723 increase in the expansion rate of melanoblasts by cell division; a melanoblast is a cell that originates from the neural crest and differentiates into a pigment cell 2018-11-16T16:19:59Z MPheno.ontology MP:0030907 increased melanoblast proliferation MP:0030907 increase in the expansion rate of melanoblasts by cell division; a melanoblast is a cell that originates from the neural crest and differentiates into a pigment cell https://orcid.org/0000-0002-6490-7723 any anomaly in the process in which a relatively unspecialized cell acquires specialized features of a melanocyte 2018-11-19T08:26:35Z abnormal melanocyte cell differentiation MPheno.ontology MP:0030908 abnormal melanocyte differentiation MP:0030908 any anomaly in the process in which a relatively unspecialized cell acquires specialized features of a melanocyte GO:0030318 any anomaly in the adhesive properties of melanocytes, resulting in abnormal cell to cell and cell to extracellular matrix (ECM) interactions 2018-11-19T09:57:46Z MPheno.ontology MP:0030909 abnormal melanocyte adhesion MP:0030909 any anomaly in the adhesive properties of melanocytes, resulting in abnormal cell to cell and cell to extracellular matrix (ECM) interactions https://orcid.org/0000-0002-6490-7723 change in the timing or the number of melanoblasts undergoing programmed cell death; a melanoblast is a cell that originates from the neural crest and differentiates into a pigment cell 2018-11-19T10:13:23Z MPheno.ontology MP:0030910 abnormal melanoblast apoptosis MP:0030910 change in the timing or the number of melanoblasts undergoing programmed cell death; a melanoblast is a cell that originates from the neural crest and differentiates into a pigment cell https://orcid.org/0000-0002-6490-7723 increase in the number of melanoblasts undergoing programmed cell death 2018-11-19T10:30:34Z MPheno.ontology MP:0030911 increased melanoblast apoptosis MP:0030911 increase in the number of melanoblasts undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 reduction in the number of melanoblasts undergoing programmed cell death 2018-11-19T10:33:39Z reduced melanoblast apoptosis MPheno.ontology MP:0030912 decreased melanoblast apoptosis MP:0030912 reduction in the number of melanoblasts undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 any anomaly in the aggregation, arrangement or bonding together of a set of components required to form a melanosome, a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored 2018-11-19T12:50:36Z abnormal melanosome assembly MPheno.ontology MP:0030913 abnormal melanosome formation MP:0030913 any anomaly in the aggregation, arrangement or bonding together of a set of components required to form a melanosome, a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored GO:1903232 any anomaly in the directed movement of substances from endosomes to the melanosome, a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored 2018-11-19T13:27:29Z MPheno.ontology MP:0030914 abnormal endosome to melanosome transport MP:0030914 any anomaly in the directed movement of substances from endosomes to the melanosome, a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored GO:0035646 https://orcid.org/0000-0002-6490-7723 any anomaly in the developmental processes that are required for a melanosome to attain its fully functional state; melanosome maturation occurs through sequential stages (I-IV) that can be defined based on morphology and melanin content; stage I pre-melanosomes are roughly spherical, lack pigment, contain intraluminal vesicles, and resemble multivesicular bodies i.e. structures found along the endosomal pathway; stage II melanosomes are elongated (ellipsoidal) in shape, lack pigment, and contain intraluminal matrix fibers organized in a striated array; deposition of melanin along the matrix fibers begins in stage III melanosomes; stage IV melanosomes, corresponding to fully-melanized mature organelles, are characterized by a dense homogeneous deposit of melanin that covers all the internal structures of the matrix 2018-11-19T13:55:56Z MPheno.ontology MP:0030915 abnormal melanosome maturation MP:0030915 any anomaly in the developmental processes that are required for a melanosome to attain its fully functional state; melanosome maturation occurs through sequential stages (I-IV) that can be defined based on morphology and melanin content; stage I pre-melanosomes are roughly spherical, lack pigment, contain intraluminal vesicles, and resemble multivesicular bodies i.e. structures found along the endosomal pathway; stage II melanosomes are elongated (ellipsoidal) in shape, lack pigment, and contain intraluminal matrix fibers organized in a striated array; deposition of melanin along the matrix fibers begins in stage III melanosomes; stage IV melanosomes, corresponding to fully-melanized mature organelles, are characterized by a dense homogeneous deposit of melanin that covers all the internal structures of the matrix PMID:12445206 PMID:16303920 https://books.google.gr/books?isbn=0080911951 anomaly in the average size of the tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored 2018-11-19T14:10:13Z MPheno.ontology MP:0030916 abnormal melanosome size MP:0030916 anomaly in the average size of the tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored https://orcid.org/0000-0002-6490-7723 greater than average size of the tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored; giant melanosomes may become frequent in conditions of pathological melanogenesis 2018-11-19T14:18:23Z enlarged melanosomes giant melanosomes increased melanosome size large melanosomes macromelanosomes oversized melanosomes MPheno.ontology MP:0030917 enlarged melanosome MP:0030917 greater than average size of the tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored; giant melanosomes may become frequent in conditions of pathological melanogenesis PMID:24485836 https://orcid.org/0000-0002-6490-7723 less than average size of the tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored 2018-11-19T14:30:52Z decreased melanosome size micromelanosome reduced melanosome size small melanosomes MPheno.ontology MP:0030918 small melanosome MP:0030918 less than average size of the tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored https://orcid.org/0000-0002-6490-7723 missing the thickening of the proximal end of the hair follicle that contains rapidly proliferating, rather undifferentiated matrix cells (transient amplifying cells), melanocytes and outer root sheath cells 2018-11-19T14:41:48Z absent hair bulb MPheno.ontology MP:0030919 absent hair follicle bulb MP:0030919 missing the thickening of the proximal end of the hair follicle that contains rapidly proliferating, rather undifferentiated matrix cells (transient amplifying cells), melanocytes and outer root sheath cells https://orcid.org/0000-0002-6490-7723 reduced size of the thickening of the proximal end of the hair follicle that contains rapidly proliferating, rather undifferentiated matrix cells (transient amplifying cells), melanocytes and outer root sheath cells 2018-11-19T14:48:05Z decreased hair follicle bulb size reduced hair follicle bulb size small hair bulb MPheno.ontology MP:0030920 small hair follicle bulb MP:0030920 reduced size of the thickening of the proximal end of the hair follicle that contains rapidly proliferating, rather undifferentiated matrix cells (transient amplifying cells), melanocytes and outer root sheath cells https://orcid.org/0000-0002-6490-7723 any structural anomaly of the club-shaped structure which forms from keratinized epithelial cells at the base of the hair shaft during catagen, and interdigitates with the surrounding outer root sheath to anchor the hair in place; the club is necessary for the retention of a completed hair 2018-11-19T14:57:41Z MPheno.ontology MP:0030921 abnormal hair club morphology MP:0030921 any structural anomaly of the club-shaped structure which forms from keratinized epithelial cells at the base of the hair shaft during catagen, and interdigitates with the surrounding outer root sheath to anchor the hair in place; the club is necessary for the retention of a completed hair PMID:22611050 missing the club-shaped structure which forms from keratinized epithelial cells at the base of the hair shaft during catagen, and interdigitates with the surrounding outer root sheath to anchor the hair in place; the club is necessary for the retention of a completed hair 2018-11-19T15:03:13Z MPheno.ontology MP:0030922 absent hair club MP:0030922 missing the club-shaped structure which forms from keratinized epithelial cells at the base of the hair shaft during catagen, and interdigitates with the surrounding outer root sheath to anchor the hair in place; the club is necessary for the retention of a completed hair PMID:22611050 https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the openings of the hair follicles through which the hair fibers emerge from the skin 2018-11-19T15:27:55Z abnormal follicular ostia morphology abnormal hair follicle ostia morphology MPheno.ontology MP:0030923 abnormal hair follicle ostium morphology MP:0030923 any structural anomaly of any of the openings of the hair follicles through which the hair fibers emerge from the skin http://www.keratin.com/at/at003.shtml anomaly in the resting or quiescent phase of the hair growth cycle resulting a shortened telogen phase 2018-11-23T12:24:06Z decreased telogen phase duration precocious exit from telogen premature end of telogen short telogen shortened telogen phase MPheno.ontology MP:0030924 early exit from telogen phase MP:0030924 anomaly in the resting or quiescent phase of the hair growth cycle resulting a shortened telogen phase https://orcid.org/0000-0002-6490-7723 anomaly in the growth phase of the hair cycle resulting a shortened anagen phase 2018-11-23T12:40:44Z decreased anagen phase duration precocious exit from anagen premature end of anagen short anagen shortened anagen phase MPheno.ontology MP:0030925 early exit from anagen phase MP:0030925 anomaly in the growth phase of the hair cycle resulting a shortened anagen phase https://orcid.org/0000-0002-6490-7723 visually detectable excess of pigment present in the skin 2018-12-13T10:01:56Z cutaneous hyperpigmentation darkened skin darkening of the skin skin hyperpigmentation MPheno.ontology MP:0030926 increased skin pigmentation MP:0030926 visually detectable excess of pigment present in the skin https://orcid.org/0000-0002-6490-7723 reduction in the average length of the terminal repetitive DNA section of a chromosome that is involved in chromosomal replication and senescence and protects the end of the chromosome from deterioration; normal length is a few hundred base pairs 2018-12-13T10:26:35Z short telomeres shortened telomeres telomere shortening MPheno.ontology MP:0030927 decreased telomere length MP:0030927 reduction in the average length of the terminal repetitive DNA section of a chromosome that is involved in chromosomal replication and senescence and protects the end of the chromosome from deterioration; normal length is a few hundred base pairs https://orcid.org/0000-0002-6490-7723 increase in the average length of the terminal repetitive DNA section of a chromosome that is involved in chromosomal replication and senescence and protects the end of the chromosome from deterioration; normal length is a few hundred base pairs 2018-12-13T10:32:56Z elongated telomeres telomere elongation MPheno.ontology MP:0030928 increased telomere length MP:0030928 increase in the average length of the terminal repetitive DNA section of a chromosome that is involved in chromosomal replication and senescence and protects the end of the chromosome from deterioration; normal length is a few hundred base pairs https://orcid.org/0000-0002-6490-7723 visually detectable excess of pigment present on the finger or toe surface 2018-12-13T11:17:02Z dark toes digit hyperpigmentation finger hyperpigmentation hyperpigmented digits hyperpigmented toes increased finger pigmentation increased toe pigmentation toe hyperpigmentation MPheno.ontology MP:0030929 increased digit pigmentation MP:0030929 visually detectable excess of pigment present on the finger or toe surface https://orcid.org/0000-0002-6490-7723 visually detectable dilution of pigment present on the finger or toe surface 2018-12-13T11:30:29Z digit hypopigmentation finger hypopigmentation hypopigmented digits hypopigmented toes reduced digit pigmentation toe hypopigmentation white hind toes white toes MPheno.ontology MP:0030930 decreased digit pigmentation MP:0030930 visually detectable dilution of pigment present on the finger or toe surface https://orcid.org/0000-0002-6490-7723 visually detectable excess of pigment present on the surface of the nipple and/or areola 2018-12-13T12:39:13Z darkened nipples hyperpigmented nipples nipple hyperpigmentation MPheno.ontology MP:0030931 increased nipple pigmentation MP:0030931 visually detectable excess of pigment present on the surface of the nipple and/or areola https://orcid.org/0000-0002-6490-7723 an accumulation of pus or white blood cells in the anterior chamber of the eye, appearing as a whitish or gray fluid between the cornea and the iris 2019-03-26T10:29:35Z MPheno.ontology MP:0030932 hypopyon MP:0030932 an accumulation of pus or white blood cells in the anterior chamber of the eye, appearing as a whitish or gray fluid between the cornea and the iris https://medical-dictionary.thefreedictionary.com/hypopyon hemorrhage within the anterior chamber of the eye 2019-03-26T10:54:36Z hyphaema MPheno.ontology hyphaemia hyphemia MP:0030933 hyphema MP:0030933 hemorrhage within the anterior chamber of the eye HP:0011886 hyphaemia https://medical-dictionary.thefreedictionary.com/hyphemia reduced ability of a primordial germ cell population to undergo expansion by cell division 2019-03-26T11:38:35Z decreased PGC proliferation reduced PGC proliferation reduced primordial germ cell proliferation MPheno.ontology MP:0030934 decreased primordial germ cell proliferation MP:0030934 reduced ability of a primordial germ cell population to undergo expansion by cell division https://orcid.org/0000-0002-6490-7723 increase in the number of primordial germ cells undergoing programmed cell death 2019-03-26T11:59:40Z increased PGC apoptosis MPheno.ontology MP:0030935 increased primordial germ cell apoptosis MP:0030935 increase in the number of primordial germ cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 greater than expected amount of DNA contained within the mitochondria of a mammalian cell 2019-06-24T10:29:29Z increased mitochondrial DNA level increased mitochondrial genome size increased mtDNA amount increased mtDNA content MPheno.ontology MP:0030937 increased mitochondrial DNA content MP:0030937 greater than expected amount of DNA contained within the mitochondria of a mammalian cell https://orcid.org/0000-0002-6490-7723 any anomaly in the selective autohagy process in which parts of the endoplasmic reticulum are loaded into autophagosomes, delivered to the vacuole, and degraded in response to changing cellular conditions 2019-06-24T10:42:24Z abnormal ER-phagy abnormal autophagy of the ER abnormal autophagy of the endoplasmic reticulum MPheno.ontology MP:0030938 abnormal reticulophagy MP:0030938 any anomaly in the selective autohagy process in which parts of the endoplasmic reticulum are loaded into autophagosomes, delivered to the vacuole, and degraded in response to changing cellular conditions GO:0061709 any anomaly in the formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm 2019-06-24T11:01:52Z abnormal autophagic vacuole assembly abnormal autophagic vacuole formation abnormal autophagosome assembly abnormal autophagosome biosynthesis MPheno.ontology MP:0030939 abnormal autophagosome formation MP:0030939 any anomaly in the formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm GO:0000045 impairment of the catabolic process involving the degradation of a cell's own components through the lysosomal machinery 2019-06-24T11:20:17Z decreased autophagy impaired autophagocytosis reduced autophagy MPheno.ontology MP:0030940 impaired autophagy MP:0030940 impairment of the catabolic process involving the degradation of a cell's own components through the lysosomal machinery https://orcid.org/0000-0002-6490-7723 enhancement of the catabolic process involving the degradation of a cell's own components through the lysosomal machinery 2019-06-24T11:27:40Z elevated autophagy enhanced autophagocytosis increased autophagy MPheno.ontology MP:0030941 enhanced autophagy MP:0030941 enhancement of the catabolic process involving the degradation of a cell's own components through the lysosomal machinery https://orcid.org/0000-0002-6490-7723 any anomaly of the intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides 2019-06-24T11:47:46Z abnormal MTOC morphology abnormal microtubule organising centre morphology MPheno.ontology MP:0030942 abnormal microtubule organizing center morphology MP:0030942 any anomaly of the intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides GO:0005815 any structural anomaly of the non-membrane-bound organelle comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized; centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle 2019-06-24T11:58:03Z MPheno.ontology MP:0030943 abnormal centrosome morphology MP:0030943 any structural anomaly of the non-membrane-bound organelle comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized; centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle GO:0005813 any structural anomaly of the network of small fibers that surrounds the centrioles; it contains the microtubule nucleating activity of the centrosome 2019-06-24T12:03:47Z abnormal PCM morphology abnormal pericentriolar matrix morphology MPheno.ontology MP:0030944 abnormal pericentriolar material morphology MP:0030944 any structural anomaly of the network of small fibers that surrounds the centrioles; it contains the microtubule nucleating activity of the centrosome GO:0000242 any anomaly in the orderly movement of a myoblast from one site to another during development; a myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers 2019-06-26T09:54:10Z abnormal myoblast cell migration MPheno.ontology MP:0030945 abnormal myoblast migration MP:0030945 any anomaly in the orderly movement of a myoblast from one site to another during development; a myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers GO:0051451 anomaly in the ability of myoblasts to undergo expansion by cell division; a myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers 2019-06-26T10:45:10Z abnormal myoblast cell proliferation MPheno.ontology MP:0030946 abnormal myoblast proliferation MP:0030946 anomaly in the ability of myoblasts to undergo expansion by cell division; a myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers GO:0051450 https://orcid.org/0000-0002-6490-7723 increase in the expansion rate of myoblasts by cell division; a myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers 2019-06-26T10:55:21Z enhanced myoblast cell proliferation increased myoblast cell proliferation MPheno.ontology MP:0030947 increased myoblast proliferation MP:0030947 increase in the expansion rate of myoblasts by cell division; a myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers https://orcid.org/0000-0002-6490-7723 reduction in the expansion rate of myoblasts by cell division; a myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers 2019-06-26T11:00:58Z decreased myoblast cell proliferation reduced myoblast cell proliferation reduced myoblast proliferation MPheno.ontology MP:0030948 decreased myoblast proliferation MP:0030948 reduction in the expansion rate of myoblasts by cell division; a myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers https://orcid.org/0000-0002-6490-7723 any anomaly in the directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles 2019-06-26T11:36:32Z MPheno.ontology abnormal Golgi-derived vesicle transport MP:0030949 abnormal Golgi vesicle transport MP:0030949 any anomaly in the directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles GO:0048193 https://orcid.org/0000-0002-6490-7723 anomaly in the fusion of intracellular membrane-bounded vesicles with the pre-synaptic membrane of the neuronal cell resulting in impaired release of neurotransmitter into the synaptic cleft 2019-06-26T11:50:17Z MPheno.ontology MP:0030950 abnormal synaptic vesicle exocytosis MP:0030950 anomaly in the fusion of intracellular membrane-bounded vesicles with the pre-synaptic membrane of the neuronal cell resulting in impaired release of neurotransmitter into the synaptic cleft GO:0016079 https://orcid.org/0000-0002-6490-7723 any anomaly in the vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle 2019-06-26T11:58:42Z abnormal endocytic import into cell abnormal vesicle endocytosis abnormal plasma membrane invagination MPheno.ontology abnormal nonselective vesicle endocytosis MP:0030951 abnormal endocytosis MP:0030951 any anomaly in the vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle GO:0006897 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the set of thin, flattened membrane-bounded compartments, called cisternae, which form the central portion of the Golgi complex; the stack usually comprises cis, medial, and trans cisternae; the cis- and trans-Golgi networks are not considered part of the stack 2019-06-26T12:08:06Z abnormal Golgi cisternae MPheno.ontology MP:0030952 abnormal Golgi stack morphology MP:0030952 any structural anomaly of the set of thin, flattened membrane-bounded compartments, called cisternae, which form the central portion of the Golgi complex; the stack usually comprises cis, medial, and trans cisternae; the cis- and trans-Golgi networks are not considered part of the stack GO:0005795 https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the thin, flattened membrane-bounded compartments that form the central portion of the Golgi complex 2019-06-26T12:23:39Z abnormal Golgi cistern morphology MPheno.ontology MP:0030953 abnormal Golgi cisterna morphology MP:0030953 any structural anomaly of any of the thin, flattened membrane-bounded compartments that form the central portion of the Golgi complex GO:0031985 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the Golgi cisterna closest to the endoplasmic reticulum (ER), the first processing compartment through which proteins pass after export from the ER 2019-06-26T12:28:22Z abnormal Golgi cis cistern morphology MPheno.ontology MP:0030954 abnormal Golgi cis cisterna morphology MP:0030954 any structural anomaly of the Golgi cisterna closest to the endoplasmic reticulum (ER), the first processing compartment through which proteins pass after export from the ER GO:0000137 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the Golgi cisterna farthest from the endoplasmic reticulum, the final processing compartment through which proteins pass before exiting the Golgi apparatus; this is the compartment in which N-linked protein glycosylation is completed 2019-06-26T12:39:17Z abnormal Golgi trans cistern morphology MPheno.ontology MP:0030955 abnormal Golgi trans cisterna morphology MP:0030955 any structural anomaly of the Golgi cisterna farthest from the endoplasmic reticulum, the final processing compartment through which proteins pass before exiting the Golgi apparatus; this is the compartment in which N-linked protein glycosylation is completed GO:0000138 https://orcid.org/0000-0002-6490-7723 any anomaly in the orderly movement of a neuroblast embryonic cell from one site to another during development 2019-06-26T12:53:10Z abnormal neuroblast cell migration abnormal neuroblast migration abnormal neuronal progenitor cell migration MPheno.ontology MP:0030956 abnormal neuronal precursor cell migration MP:0030956 any anomaly in the orderly movement of a neuroblast embryonic cell from one site to another during development https://orcid.org/0000-0002-6490-7723 any structural anomaly of any of the multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse 2019-07-02T10:51:42Z MPheno.ontology MP:0030957 abnormal myotube morphology MP:0030957 any structural anomaly of any of the multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse GO:0014902 https://orcid.org/0000-0002-6490-7723 any anomaly in the process in which a relatively unspecialized cell acquires specialized features of a myotube cell; myotube differentiation starts with myoblast fusion and the appearance of specific cell markers (this is the cell development step); then individual myotubes fuse to form bigger myotubes and start to contract 2019-07-02T10:59:16Z MPheno.ontology MP:0030958 abnormal myotube differentiation MP:0030958 any anomaly in the process in which a relatively unspecialized cell acquires specialized features of a myotube cell; myotube differentiation starts with myoblast fusion and the appearance of specific cell markers (this is the cell development step); then individual myotubes fuse to form bigger myotubes and start to contract GO:0014902 any anomaly in the process in which non-proliferating myoblasts fuse to existing fibers or to myotubes to form new fibers; a myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers 2019-07-02T11:05:08Z MPheno.ontology MP:0030959 abnormal myoblast fusion MP:0030959 any anomaly in the process in which non-proliferating myoblasts fuse to existing fibers or to myotubes to form new fibers; a myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers GO:0007520 https://orcid.org/0000-0002-6490-7723 any anomaly in the passage of a leukocyte between the tight junctions of endothelial cells lining blood vessels, typically the fourth and final step of cellular extravasation 2019-07-02T11:28:33Z MPheno.ontology MP:0030960 abnormal diapedesis MP:0030960 any anomaly in the passage of a leukocyte between the tight junctions of endothelial cells lining blood vessels, typically the fourth and final step of cellular extravasation GO:0050904 https://orcid.org/0000-0002-6490-7723 outer hair cell kinocilia are displaced from the normal position and/or do not orient in a typical pattern 2019-07-02T11:40:40Z abnormal OHC kinocilium location or orientation mispositioned OHC kinocilia mispositioned outer hair cell kinocilia MPheno.ontology MP:0030961 abnormal outer hair cell kinocilium location or orientation MP:0030961 outer hair cell kinocilia are displaced from the normal position and/or do not orient in a typical pattern https://orcid.org/0000-0002-6490-7723 inner hair cell kinocilia are displaced from the normal position and/or do not orient in a typical pattern 2019-07-02T12:08:04Z abnormal IHC kinocilium location or orientation mispositioned IHC kinocilia mispositioned inner hair cell kinocilia MPheno.ontology MP:0030962 abnormal inner hair cell kinocilium location or orientation MP:0030962 inner hair cell kinocilia are displaced from the normal position and/or do not orient in a typical pattern https://orcid.org/0000-0002-6490-7723 brain ependyma motile cilia are displaced from the normal position and/or do not orient in a typical pattern 2019-07-02T12:20:55Z mispositioned brain ependyma motile cilia mispositioned brain ependymal cilia MPheno.ontology MP:0030963 abnormal brain ependyma motile cilium location or orientation MP:0030963 brain ependyma motile cilia are displaced from the normal position and/or do not orient in a typical pattern https://orcid.org/0000-0002-6490-7723 reduced length of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert to move cerebrospinal fluid 2019-07-02T12:29:29Z decreased brain ependyma motile cilia length decreased brain ventricle motile cilia length decreased brain ventricle motile cilium length reduced brain ependyma motile cilia length reduced brain ependyma motile cilium length short brain ependyma motile cilia short brain ependyma motile cilium MPheno.ontology MP:0030964 decreased brain ependyma motile cilium length MP:0030964 reduced length of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert to move cerebrospinal fluid https://orcid.org/0000-0002-6490-7723 increased length of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert to move cerebrospinal fluid 2019-07-02T12:36:28Z enlongated brain ependyma motile cilia enlongated brain ependyma motile cilium increased brain ependyma motile cilia length increased brain ventricle motile cilia length increased brain ventricle motile cilium length MPheno.ontology MP:0030965 increased brain ependyma motile cilium length MP:0030965 increased length of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert to move cerebrospinal fluid https://orcid.org/0000-0002-6490-7723 reduced number of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert to move cerebrospinal fluid 2019-07-02T12:45:44Z decreased brain ependyma motile cilia number decreased brain ventricle motile cilia number decreased brain ventricle motile cilium number reduced brain ependyma motile cilia number reduced brain ependyma motile cilium number reduced brain ventricle motile cilia number reduced brain ventricle motile cilium number MPheno.ontology MP:0030966 decreased brain ependyma motile cilium number MP:0030966 reduced number of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert to move cerebrospinal fluid https://orcid.org/0000-0002-6490-7723 any anomaly in the blood concentration of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue MPheno.ontology MP:0030967 abnormal circulating adiponectin level MP:0030967 any anomaly in the blood concentration of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue https://orcid.org/0000-0002-6490-7723 less than the normal concentration in the blood of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue hypoadiponectinaemia hypoadiponectinemia reduced circulating adiponectin level decreased plasma adiponectin level decreased serum adiponectin level reduced plasma adiponectin level reduced serum adiponectin level MPheno.ontology MP:0030968 decreased circulating adiponectin level MP:0030968 less than the normal concentration in the blood of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue https://orcid.org/0000-0002-6490-7723 greater than the normal concentration in the blood of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue elevated circulating adiponectin level hyperadiponectinaemia hyperadiponectinemia increased plasma adiponectin level increased serum adiponectin level MPheno.ontology MP:0030969 increased circulating adiponectin level MP:0030969 greater than the normal concentration in the blood of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue https://orcid.org/0000-0002-6490-7723 an abnormal increase of ketone bodies in the body tissues; it is typically pathological in conditions such as diabetes, or may be the consequence of a diet that is very low in carbohydrates 2019-07-12T15:30:40Z high levels of ketone bodies hyperketosis MPheno.ontology MP:0030970 ketosis MP:0030970 an abnormal increase of ketone bodies in the body tissues; it is typically pathological in conditions such as diabetes, or may be the consequence of a diet that is very low in carbohydrates HP:0001946 https://www.merriam-webster.com/dictionary/ketosis acidosis resulting from accumulation of ketone bodies 2019-07-12T15:39:15Z MPheno.ontology MP:0030971 ketoacidosis MP:0030971 acidosis resulting from accumulation of ketone bodies HP:0001993 increase in the number of myoblasts undergoing programmed cell death 2019-07-12T17:31:10Z MPheno.ontology MP:0030972 increased myoblast apoptosis MP:0030972 increase in the number of myoblasts undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 reduction in the rate of formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol 2019-07-12T17:49:40Z decreased gluconeogenesis decreased glucose biosynthesis reduced gluconeogenesis MPheno.ontology MP:0030973 impaired gluconeogenesis MP:0030973 reduction in the rate of formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol GO:0006094 https://orcid.org/0000-0002-6490-7723 increase in the rate of formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol 2019-07-12T17:56:18Z elevated gluconeogenesis increased gluconeogenesis increased glucose biosynthesis MPheno.ontology MP:0030974 enhanced gluconeogenesis MP:0030974 increase in the rate of formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol GO:0006094 https://orcid.org/0000-0002-6490-7723 presence of bleeding in the placenta 2019-09-16T08:49:39Z placenta haemorrhage placental bleeding placental haemorrhage placental hemorrhage MPheno.ontology MP:0030975 placenta hemorrhage MP:0030975 presence of bleeding in the placenta https://orcid.org/0000-0002-6490-7723 reduced ability or inability of sperm to infiltrate the zona pellucida in order to reach the oocyte; the process involves digestive enzymes from a modified lysosome called the acrosome, situated at the head of the sperm 2019-09-16T09:36:36Z impaired penetration of zona pellucida MPheno.ontology MP:0030976 impaired sperm penetration of zona pellucida MP:0030976 reduced ability or inability of sperm to infiltrate the zona pellucida in order to reach the oocyte; the process involves digestive enzymes from a modified lysosome called the acrosome, situated at the head of the sperm GO:0007341 https://orcid.org/0000-0002-6490-7723 reduced ability or inability to establish the initial contact between the sperm plasma membrane and the outer layer of the egg during fertilization 2019-09-16T09:59:27Z MPheno.ontology MP:0030977 impaired sperm-egg recognition MP:0030977 reduced ability or inability to establish the initial contact between the sperm plasma membrane and the outer layer of the egg during fertilization GO:0035036 https://orcid.org/0000-0002-6490-7723 reduced ability or inability to execute the process in which the sperm binds to the zona pellucida glycoprotein layer of the egg; the process begins with the attachment of the sperm plasma membrane to the zona pellucida and includes attachment of the acrosome inner membrane to the zona pellucida after the acrosomal reaction takes place 2019-09-16T10:05:38Z MPheno.ontology MP:0030978 impaired binding of sperm to zona pellucida MP:0030978 reduced ability or inability to execute the process in which the sperm binds to the zona pellucida glycoprotein layer of the egg; the process begins with the attachment of the sperm plasma membrane to the zona pellucida and includes attachment of the acrosome inner membrane to the zona pellucida after the acrosomal reaction takes place GO:0007339 https://orcid.org/0000-0002-6490-7723 lower than average weight of the spinal cord 2019-09-16T10:19:38Z low spinal cord weight reduced spinal cord weight MPheno.ontology MP:0030979 decreased spinal cord weight MP:0030979 lower than average weight of the spinal cord https://orcid.org/0000-0002-6490-7723 any structural anomaly of the F-actin-keratin cytoskeletal plate limited by a desmosome-like marginal ring that anchors the developing acrosome to the nuclear envelope and is thought to play a pivotal role in acrosome biogenesis and spermatid head shaping 2019-09-16T13:35:03Z MPheno.ontology MP:0030980 abnormal acroplaxome morphology MP:0030980 any structural anomaly of the F-actin-keratin cytoskeletal plate limited by a desmosome-like marginal ring that anchors the developing acrosome to the nuclear envelope and is thought to play a pivotal role in acrosome biogenesis and spermatid head shaping PMID:14551252 PMID:22319670 any structural anomaly of the the narrow layer of cells located between the granule cell layer and hilus of the dentate gyrus, where adult neurogenesis occurs 2019-09-30T08:57:28Z abnormal SGZ morphology abnormal subgranular zone morphology abnormal subgranular zone of dentate gyrus morphology MPheno.ontology MP:0030981 abnormal dentate gyrus subgranular zone morphology MP:0030981 any structural anomaly of the the narrow layer of cells located between the granule cell layer and hilus of the dentate gyrus, where adult neurogenesis occurs UBERON:0009952 https://orcid.org/0000-0002-6490-7723 anomaly in the deposition of a plug of sperm or other gelatinous material into the opening of the vulva by a male at the termination of copulation; probably acts to prevent subsequent matings by other males 2019-09-30T09:43:35Z abnormal mating plug formation abnormal vaginal plug formation abnormal mating plug deposition abnormal vaginal plug deposition MPheno.ontology MP:0030982 This term should be used when the cause is either behavioral or unknown. abnormal copulatory plug deposition MP:0030982 anomaly in the deposition of a plug of sperm or other gelatinous material into the opening of the vulva by a male at the termination of copulation; probably acts to prevent subsequent matings by other males GO:0042628 inability to initiate and/or complete the deposition of a plug of sperm or other gelatinous material into the opening of the vulva by a male at the termination of copulation 2019-09-30T09:51:50Z absent mating plug formation failure of mating plug formation failure of vaginal plug formation absent copulatory plug deposition absent vaginal plug deposition failure of mating plug deposition MPheno.ontology MP:0030983 This term should be used when the cause is either behavioral or unknown. failure of copulatory plug deposition MP:0030983 inability to initiate and/or complete the deposition of a plug of sperm or other gelatinous material into the opening of the vulva by a male at the termination of copulation GO:0042628 https://orcid.org/0000-0002-6490-7723 greater than the normal blood concentration of this noncollagenous protein hormone found in bone and dentin, which is secreted by osteoblasts 2019-10-31T06:34:07Z increased circulating BGLAP level increased circulating bone gamma-carboxyglutamic acid-containing protein level MPheno.ontology MP:0030984 increased circulating osteocalcin level MP:0030984 greater than the normal blood concentration of this noncollagenous protein hormone found in bone and dentin, which is secreted by osteoblasts https://orcid.org/0000-0002-6490-7723 less than the normal blood concentration of this noncollagenous protein hormone found in bone and dentin, which is secreted by osteoblasts 2019-10-31T06:40:09Z decreased circulating BGLAP level decreased circulating bone gamma-carboxyglutamic acid-containing protein level reduced circulating osteocalcin level MPheno.ontology MP:0030985 decreased circulating osteocalcin level MP:0030985 less than the normal blood concentration of this noncollagenous protein hormone found in bone and dentin, which is secreted by osteoblasts https://orcid.org/0000-0002-6490-7723 acquired diminution of the size of the striatum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes 2019-10-31T07:25:27Z atrophic striate body atrophic striatum striatal atrophy striate body atrophy MPheno.ontology MP:0030986 striatum atrophy MP:0030986 acquired diminution of the size of the striatum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in the spinal cord 2019-10-31T07:37:22Z myelitis MPheno.ontology MP:0030987 spinal cord inflammation MP:0030987 local accumulation of fluid, plasma proteins, and leukocytes in the spinal cord https://orcid.org/0000-0002-6490-7723 any qualitative alteration or distortion of the perception of smell; qualitative alterations differ from quantitative alterations, which include anosmia and hyposmia 2019-10-31T08:14:31Z MPheno.ontology MP:0030988 dysosmia MP:0030988 any qualitative alteration or distortion of the perception of smell; qualitative alterations differ from quantitative alterations, which include anosmia and hyposmia https://en.wikipedia.org/wiki/Dysosmia reduction in the number of trophoblast cells that arise in the junctional zone of the placenta 2019-10-31T08:45:01Z reduced spongiotrophoblast cell number MPheno.ontology MP:0030989 decreased spongiotrophoblast cell number MP:0030989 reduction in the number of trophoblast cells that arise in the junctional zone of the placenta https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in one or more nerves 2019-10-31T08:55:56Z neuritis MPheno.ontology MP:0030990 nerve inflammation MP:0030990 local accumulation of fluid, plasma proteins, and leukocytes in one or more nerves https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in the optic nerve 2019-10-31T09:13:44Z optic neuritis MPheno.ontology MP:0030991 optic nerve inflammation MP:0030991 local accumulation of fluid, plasma proteins, and leukocytes in the optic nerve https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the atrioventricular cushion, typically resulting in decreased size 2019-10-31T09:25:42Z endocardial cushion hypoplasia hypoplastic endocardial cushion hypoplastic atrioventricular cushion MPheno.ontology MP:0030992 atrioventricular cushion hypoplasia MP:0030992 decrease in the number of normal cells in normal arrangement in the atrioventricular cushion, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any anomaly in the concentration of a readily converted carbohydrate reserve in adipose tissue 2019-10-31T10:19:40Z abnormal fat tissue glycogen level MPheno.ontology MP:0030993 abnormal adipose tissue glycogen level MP:0030993 any anomaly in the concentration of a readily converted carbohydrate reserve in adipose tissue https://orcid.org/0000-0002-6490-7723 less than the normal concentration of a readily converted carbohydrate reserve in adipose tissue 2019-10-31T10:28:42Z decreased fat tissue glycogen level reduced adipose tissue glycogen level MPheno.ontology MP:0030994 decreased adipose tissue glycogen level MP:0030994 less than the normal concentration of a readily converted carbohydrate reserve in adipose tissue https://orcid.org/0000-0002-6490-7723 greater than the normal concentration of a readily converted carbohydrate reserve in adipose tissue 2019-10-31T10:34:07Z increased fat tissue glycogen level MPheno.ontology MP:0030995 increased adipose tissue glycogen level MP:0030995 greater than the normal concentration of a readily converted carbohydrate reserve in adipose tissue https://orcid.org/0000-0002-6490-7723 fewer than the expected number of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers and transmit signals generated by vibrations when grasping an object 2019-12-16T08:01:30Z decreased lamellar corpuscle number decreased lamellated corpuscle number reduced lamellar corpuscle number reduced lamellated corpuscle number reduced pacinian corpuscle number MPheno.ontology MP:0030996 decreased pacinian corpuscle number MP:0030996 fewer than the expected number of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers and transmit signals generated by vibrations when grasping an object https://orcid.org/0000-0002-6490-7723 absence of all of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers and transmit signals generated by vibrations when grasping an object 2019-12-16T08:14:47Z absent lamellar corpuscles absent lamellated corpuscles MPheno.ontology MP:0030997 absent pacinian corpuscles MP:0030997 absence of all of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers and transmit signals generated by vibrations when grasping an object https://orcid.org/0000-0002-6490-7723 decreased size of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers and transmit signals generated by vibrations when grasping an object 2019-12-16T08:21:40Z decreased lamellar corpuscle size decreased lamellated corpuscle size decreased pacinian corpuscle size reduced lamellar corpuscle size reduced lamellated corpuscle size reduced pacinian corpuscle size small lamellar corpuscles small lamellated corpuscles MPheno.ontology MP:0030998 small pacinian corpuscles MP:0030998 decreased size of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers and transmit signals generated by vibrations when grasping an object https://orcid.org/0000-0002-6490-7723 any anomaly in the reactions and pathways involved in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues 2019-12-16T10:10:55Z abnormal glycogen anabolism abnormal glycogen biosynthesis abnormal glycogen biosynthetic process abnormal glycogen formation MPheno.ontology MP:0030999 abnormal glycogen synthesis MP:0030999 any anomaly in the reactions and pathways involved in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues GO:0005978 https://orcid.org/0000-0002-6490-7723 any anomaly in the reactions and pathways involved in glycogen biosynthesis that results in reduced glycogen formation 2019-12-16T10:17:34Z decreased glycogen biosynthesis decreased glycogen formation impaired glycogen anabolism impaired glycogen biosynthesis impaired glycogen biosynthetic process impaired glycogen synthesis reduced glycogen biosynthesis reduced glycogen formation reduced glycogen synthesis MPheno.ontology MP:0031000 decreased glycogen synthesis MP:0031000 any anomaly in the reactions and pathways involved in glycogen biosynthesis that results in reduced glycogen formation GO:0005978 https://orcid.org/0000-0002-6490-7723 any anomaly in the reactions and pathways involved in glycogen biosynthesis that results in increased glycogen formation 2019-12-16T10:26:07Z enhanced glycogen biosynthesis enhanced glycogen formation enhanced glycogen synthesis increased glycogen anabolism increased glycogen biosynthesis increased glycogen biosynthetic process increased glycogen formation MPheno.ontology MP:0031001 increased glycogen synthesis MP:0031001 any anomaly in the reactions and pathways involved in glycogen biosynthesis that results in increased glycogen formation GO:0005978 https://orcid.org/0000-0002-6490-7723 any anomaly in the concentration of a readily converted carbohydrate reserve in kidney 2019-12-16T10:47:17Z abnormal renal glycogen level MPheno.ontology MP:0031002 abnormal kidney glycogen level MP:0031002 any anomaly in the concentration of a readily converted carbohydrate reserve in kidney https://orcid.org/0000-0002-6490-7723 greater than the normal concentration of a readily converted carbohydrate reserve in kidney 2019-12-16T11:08:40Z increased renal glycogen level MPheno.ontology MP:0031003 increased kidney glycogen level MP:0031003 greater than the normal concentration of a readily converted carbohydrate reserve in kidney https://orcid.org/0000-0002-6490-7723 less than the normal concentration of a readily converted carbohydrate reserve in kidney 2019-12-16T11:13:47Z decreased renal glycogen level reduced kidney glycogen level reduced renal glycogen level MPheno.ontology MP:0031004 decreased kidney glycogen level MP:0031004 less than the normal concentration of a readily converted carbohydrate reserve in kidney https://orcid.org/0000-0002-6490-7723 any anomaly in the concentration of a readily converted carbohydrate reserve in lung 2019-12-16T11:31:13Z abnormal pulmonary glycogen level MPheno.ontology MP:0031005 abnormal lung glycogen level MP:0031005 any anomaly in the concentration of a readily converted carbohydrate reserve in lung https://orcid.org/0000-0002-6490-7723 greater than the normal concentration of a readily converted carbohydrate reserve in lung 2019-12-16T11:35:34Z increased pulmonary glycogen level MPheno.ontology MP:0031006 increased lung glycogen level MP:0031006 greater than the normal concentration of a readily converted carbohydrate reserve in lung https://orcid.org/0000-0002-6490-7723 less than the normal concentration of a readily converted carbohydrate reserve in lung 2019-12-16T11:39:31Z decreased pulmonary glycogen level reduced lung glycogen level reduced pulmonary glycogen level MPheno.ontology MP:0031007 decreased lung glycogen level MP:0031007 less than the normal concentration of a readily converted carbohydrate reserve in lung https://orcid.org/0000-0002-6490-7723 decreased quantity of the bone marrow fat-storing cells/tissue 2019-12-16T12:36:50Z decreased bone marrow fat amount reduced bone marrow adipose tissue amount reduced bone marrow fat MPheno.ontology MP:0031008 decreased bone marrow adipose tissue amount MP:0031008 decreased quantity of the bone marrow fat-storing cells/tissue PMID:25934999 RGD:sjwang any anomaly in the binding and fusion of a sperm with the plasma membrane of the oocyte during the process of fertilization 2020-01-07T09:55:18Z abnormal fusion of sperm to egg plasma membrane abnormal sperm-oocyte fusion MPheno.ontology MP:0031009 abnormal sperm-egg fusion MP:0031009 any anomaly in the binding and fusion of a sperm with the plasma membrane of the oocyte during the process of fertilization GO:0007342 failure to initiate and/or complete the binding and fusion of a sperm with the plasma membrane of the oocyte during the process of fertilization 2020-01-07T10:12:01Z failure of sperm to egg plasma membrane fusion failure of sperm-oocyte fusion MPheno.ontology MP:0031010 failure of sperm-egg fusion MP:0031010 failure to initiate and/or complete the binding and fusion of a sperm with the plasma membrane of the oocyte during the process of fertilization GO:0007342 https://orcid.org/0000-0002-6490-7723 any anomaly in the ability of ejaculated sperm to migrate through the female genital tract to reach the oocyte in the oviduct; during their transit in the female tract, sperm encounter different environments with various mechanical and biochemical properties; to complete the journey, each sperm has to swim in a highly viscous medium in the cervix, avoid immunological detection in the uterus, cross the uterotubal junction, and ascend into the oviduct isthmus to ultimately reach the site of fertilization, the ampullary region of the oviduct 2020-01-07T10:51:59Z abnormal sperm migration through the female reproductive tract MPheno.ontology MP:0031011 abnormal sperm migration in female genital tract MP:0031011 any anomaly in the ability of ejaculated sperm to migrate through the female genital tract to reach the oocyte in the oviduct; during their transit in the female tract, sperm encounter different environments with various mechanical and biochemical properties; to complete the journey, each sperm has to swim in a highly viscous medium in the cervix, avoid immunological detection in the uterus, cross the uterotubal junction, and ascend into the oviduct isthmus to ultimately reach the site of fertilization, the ampullary region of the oviduct PMID:29353867 impaired ability of ejaculated sperm to migrate through the female genital tract and reach the oocyte at the site of fertilization, the ampullary region of the oviduct 2020-01-07T11:02:18Z impaired sperm migration through the female reproductive tract MPheno.ontology MP:0031012 impaired sperm migration in female genital tract MP:0031012 impaired ability of ejaculated sperm to migrate through the female genital tract and reach the oocyte at the site of fertilization, the ampullary region of the oviduct PMID:29353867 any anomaly in the series of biochemical and morphological events that converts a metaphase-II-arrested oocyte into a fertilized egg ready to begin embryogenesis; in most mammals, oocyte activation is a spatial-temporal regulated process induced by sperm entry that involves early events such a transient rise in intracellular calcium concentration, cortical granule exocytosis and meiotic cell-cycle resumption, and later events such as pronuclear formation, translation of maternal mRNAs and meiosis-to-mitosis transition 2020-01-07T11:22:13Z abnormal oocyte activation abnormal ovum activation MPheno.ontology MP:0031013 abnormal egg activation MP:0031013 any anomaly in the series of biochemical and morphological events that converts a metaphase-II-arrested oocyte into a fertilized egg ready to begin embryogenesis; in most mammals, oocyte activation is a spatial-temporal regulated process induced by sperm entry that involves early events such a transient rise in intracellular calcium concentration, cortical granule exocytosis and meiotic cell-cycle resumption, and later events such as pronuclear formation, translation of maternal mRNAs and meiosis-to-mitosis transition GO:0007343 ISBN:978-0-12-812571-7 PMID:10091064 https://doi.org/10.1016/J.RBMO.2014.01.008 increased incidence of fertilized oocytes fused with two or more sperm due to reduced ability or inability to prevent fertilization by multiple sperm during the egg activation process; normally only a single sperm fuses with the egg plasma membrane and injects its nucleus and other organelles into the egg cytoplasm; if more than one sperm fuses, multipolar or extra mitotic spindles are formed, resulting in faulty segregation of chromosomes during cell division; nondiploid cells are produced, and development usually stops 2020-01-07T11:47:39Z polyspermic fertilization MPheno.ontology failure of polyspermy block failure of polyspermy prevention MP:0031014 polyspermy MP:0031014 increased incidence of fertilized oocytes fused with two or more sperm due to reduced ability or inability to prevent fertilization by multiple sperm during the egg activation process; normally only a single sperm fuses with the egg plasma membrane and injects its nucleus and other organelles into the egg cytoplasm; if more than one sperm fuses, multipolar or extra mitotic spindles are formed, resulting in faulty segregation of chromosomes during cell division; nondiploid cells are produced, and development usually stops ISBN-10:0-8153-4072-9 PMID:16478602 change in the timing or the number of granulosa cells undergoing programmed cell death 2020-01-07T12:07:06Z MPheno.ontology MP:0031015 abnormal granulosa cell apoptosis MP:0031015 change in the timing or the number of granulosa cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 decrease in the number of granulosa cells undergoing programmed cell death 2020-01-07T12:19:47Z reduced granulosa cell apoptosis MPheno.ontology MP:0031016 decreased granulosa cell apoptosis MP:0031016 decrease in the number of granulosa cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 anomaly in the ability of a granulosa cell population to undergo expansion by cell division 2020-01-07T12:43:14Z MPheno.ontology MP:0031017 abnormal granulosa cell proliferation MP:0031017 anomaly in the ability of a granulosa cell population to undergo expansion by cell division https://orcid.org/0000-0002-6490-7723 reduction in the expansion rate of a granulosa cell population by cell division 2020-01-07T12:50:35Z reduced granulosa cell proliferation MPheno.ontology MP:0031018 decreased granulosa cell proliferation MP:0031018 reduction in the expansion rate of a granulosa cell population by cell division https://orcid.org/0000-0002-6490-7723 increase in the expansion rate of a granulosa cell population by cell division 2020-01-07T12:59:24Z elevated granulosa cell proliferation MPheno.ontology MP:0031019 increased granulosa cell proliferation MP:0031019 increase in the expansion rate of a granulosa cell population by cell division https://orcid.org/0000-0002-6490-7723 cessation of ovarian function occurring at an earlier than expected age 2020-01-07T13:21:18Z accelerated loss of ovarian function early cessation of ovarian function precocious ovarian failure MPheno.ontology MP:0031020 premature ovarian failure MP:0031020 cessation of ovarian function occurring at an earlier than expected age https://orcid.org/0000-0002-6490-7723 any structural anomaly of the layer of loose smooth muscle bundles (tunica muscularis) located beneath the mucosa of the gallbladder wall and composed of fibers that are not arranged in distinct layers but lie in circular, longitudinal, and oblique directions; when these fibers contract, the gallbladder’s contents are released through the cystic duct into the bile duct and eventually emptied into the duodenum to aid in the digestion of fats 2020-02-06T07:58:48Z MPheno.ontology MP:0031021 abnormal gallbladder smooth muscle morphology MP:0031021 any structural anomaly of the layer of loose smooth muscle bundles (tunica muscularis) located beneath the mucosa of the gallbladder wall and composed of fibers that are not arranged in distinct layers but lie in circular, longitudinal, and oblique directions; when these fibers contract, the gallbladder’s contents are released through the cystic duct into the bile duct and eventually emptied into the duodenum to aid in the digestion of fats https://en.wikipedia.org/wiki/Gallbladder https://www.histology.leeds.ac.uk/digestive/gallbladder.php a condition in which hepatocytes exhibit gross enlargement of cytoplasmic and nuclear volume without the formation of mitotic spindles and mitosis, potentially indicating irreversible injury 2020-02-06T08:57:13Z MPheno.ontology MP:0031022 hepatic megalocytosis MP:0031022 a condition in which hepatocytes exhibit gross enlargement of cytoplasmic and nuclear volume without the formation of mitotic spindles and mitosis, potentially indicating irreversible injury PMID:11509115 RGD:sjwang https://doi.org/10.1016/B978-0-08-046884-6.01026-5 decreased likelihood that an organism will display the expected moribund state caused by a Riboviria iinfection or from components of or toxins produced by a virus from this Realm increased resistance to Riboviria infection induced morbidity/mortality reduced sensitivity to Riboviria infection induced morbidity/mortality MPheno.ontology MP:0031023 decreased susceptibility to Riboviria infection induced morbidity/mortality MP:0031023 decreased likelihood that an organism will display the expected moribund state caused by a Riboviria iinfection or from components of or toxins produced by a virus from this Realm NCBITaxon:2559587 url:https://www.sciencedirect.com/science/article/pii/B9780128096338212314 increased likelihood that an organism will display the expected moribund state caused by a Riboviria iinfection or from components of or toxins produced by a virus from this Realm decreased resistance to Riboviria infection induced morbidity/mortality increased sensitivity to Riboviria infection induced morbidity/mortality MPheno.ontology MP:0031024 increased susceptibility to Riboviria infection induced morbidity/mortality MP:0031024 increased likelihood that an organism will display the expected moribund state caused by a Riboviria iinfection or from components of or toxins produced by a virus from this Realm NCBITaxon:2559587 url:https://www.sciencedirect.com/science/article/pii/B9780128096338212314 decreased likelihood that an organism will display the expected moribund state caused by a Herpesvirales infection or from components of or toxins produced by a virus from this Order increased resistance to Herpesvirales infection induced morbidity/mortality reduced sensitivity to Herpesvirales infection induced morbidity/mortality MPheno.ontology MP:0031025 decreased susceptibility to Herpesvirales infection induced morbidity/mortality MP:0031025 decreased likelihood that an organism will display the expected moribund state caused by a Herpesvirales infection or from components of or toxins produced by a virus from this Order NCBITaxon:548681 PMID:19066710 increased likelihood that an organism will display the expected moribund state caused by a Herpesvirales infection or from components of or toxins produced by a virus from this Order decreased resistance to Herpesvirales infection induced morbidity/mortality increased sensitivity to Herpesvirales infection induced morbidity/mortalit MPheno.ontology MP:0031026 increased susceptibility to Herpesvirales infection induced morbidity/mortality MP:0031026 increased likelihood that an organism will display the expected moribund state caused by a Herpesvirales infection or from components of or toxins produced by a virus from this Order NCBITaxon:548681 PMID:19066710 decreased likelihood that an organism will display the expected moribund state caused by an Ortervirales infection or from components of or toxins produced by a virus from this Order increased resistance to Ortervirales infection induced morbidity/mortality reduced sensitivity to Ortervirales infection induced morbidity/mortality MPheno.ontology MP:0031027 decreased susceptibility to Ortervirales infection induced morbidity/mortality MP:0031027 decreased likelihood that an organism will display the expected moribund state caused by an Ortervirales infection or from components of or toxins produced by a virus from this Order NCBITaxon:2169561 PMID:29618642 increased likelihood that an organism will display the expected moribund state caused by an Ortervirales infection or from components of or toxins produced by a virus from this Order decreased resistance to Ortervirales infection induced morbidity/mortality increased sensitivity to Ortervirales infection induced morbidity/mortality MPheno.ontology MP:0031028 increased susceptibility to Ortervirales infection induced morbidity/mortality MP:0031028 increased likelihood that an organism will display the expected moribund state caused by an Ortervirales infection or from components of or toxins produced by a virus from this Order NCBITaxon:2169561 PMID:29618642 decreased likelihood that an organism will display the expected moribund state caused by a Parvoviridae infection or from components of or toxins produced by a virus from this Family increased resistance to Parvoviridae infection induced morbidity/mortality reduced sensitivity to Parvoviridae infection induced morbidity/mortality MPheno.ontology MP:0031029 decreased susceptibility to Parvoviridae infection induced morbidity/mortality MP:0031029 decreased likelihood that an organism will display the expected moribund state caused by a Parvoviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:10780 url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/ssdna-viruses/w/parvoviridae increased likelihood that an organism will display the expected moribund state caused by a Parvoviridae infection or from components of or toxins produced by a virus from this Family decreased resistance to Parvoviridae infection induced morbidity/mortality increased sensitivity to Parvoviridae infection induced morbidity/mortality MPheno.ontology MP:0031030 increased susceptibility to Parvoviridae infection induced morbidity/mortality MP:0031030 increased likelihood that an organism will display the expected moribund state caused by a Parvoviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:10780 url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/ssdna-viruses/w/parvoviridae decreased likelihood that an organism will display the expected moribund state caused by a Hepadnaviridae infection or from components of or toxins produced by a virus from this Family increased resistance to Hepadnaviridae infection induced morbidity/mortality reduced sensitivity to Hepadnaviridae infection induced morbidity/mortality MPheno.ontology MP:0031031 decreased susceptibility to Hepadnaviridae infection induced morbidity/mortality MP:0031031 decreased likelihood that an organism will display the expected moribund state caused by a Hepadnaviridae infection or from components of or toxins produced by a virus from this Family url:https://talk.ictvonline.org/ictv-reports/ictv_9th_report/reverse-transcribing-dna-and-rna-viruses-2011/w/rt_viruses/155/hepadnaviridae url:https://www.sciencedirect.com/topics/immunology-and-microbiology/hepadnaviridae increased likelihood that an organism will display the expected moribund state caused by a Hepadnaviridae infection or from components of or toxins produced by a virus from this Family decreased resistance to Hepadnaviridae infection induced morbidity/mortality increased sensitivity to Hepadnaviridae infection induced morbidity/mortality MPheno.ontology MP:0031032 increased susceptibility to Hepadnaviridae infection induced morbidity/mortality MP:0031032 increased likelihood that an organism will display the expected moribund state caused by a Hepadnaviridae infection or from components of or toxins produced by a virus from this Family url:https://talk.ictvonline.org/ictv-reports/ictv_9th_report/reverse-transcribing-dna-and-rna-viruses-2011/w/rt_viruses/155/hepadnaviridae url:https://www.sciencedirect.com/topics/immunology-and-microbiology/hepadnaviridae decreased likelihood that an organism will display the expected moribund state caused by a Poxviridae infection or from components of or toxins produced by a virus from this Family increased resistance to Poxviridae infection induced morbidity/mortality reduced sensitivity to Poxviridae infection induced morbidity/mortality MPheno.ontology MP:0031033 decreased susceptibility to Poxviridae infection induced morbidity/mortality MP:0031033 decreased likelihood that an organism will display the expected moribund state caused by a Poxviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:10240 PMID:29145493 increased likelihood that an organism will display the expected moribund state caused by a Poxviridae infection or from components of or toxins produced by a virus from this Family decreased resistance to Poxviridae infection induced morbidity/mortality increased sensitivity to Poxviridae infection induced morbidity/mortality MPheno.ontology MP:0031034 increased susceptibility to Poxviridae infection induced morbidity/mortality MP:0031034 increased likelihood that an organism will display the expected moribund state caused by a Poxviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:10240 PMID:29145493 decreased likelihood that an organism will display the expected moribund state caused by an Adenoviridae infection or from components of or toxins produced by a virus from this Family increased resistance to Adenoviridae infection induced morbidity/mortality reduced sensitivity to Adenoviridae infection induced morbidity/mortality MPheno.ontology MP:0031035 decreased susceptibility to Adenoviridae infection induced morbidity/mortality MP:0031035 decreased likelihood that an organism will display the expected moribund state caused by an Adenoviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:10508 url:https://www.sciencedirect.com/topics/neuroscience/adenoviridae increased likelihood that an organism will display the expected moribund state caused by an Adenoviridae infection or from components of or toxins produced by a virus from this Family decreased resistance to Adenoviridae infection induced morbidity/mortality increased sensitivity to Adenoviridae infection induced morbidity/mortality MPheno.ontology MP:0031036 increased susceptibility to Adenoviridae infection induced morbidity/mortality MP:0031036 increased likelihood that an organism will display the expected moribund state caused by an Adenoviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:10508 url:https://www.sciencedirect.com/topics/neuroscience/adenoviridae decreased likelihood that an organism will display the expected moribund state caused by a Retroviridae infection or from components of or toxins produced by a virus from this Family increased resistance to Retroviridae infection induced morbidity/mortality reduced sensitivity to Retroviridae infection induced morbidity/mortality MPheno.ontology MP:0031037 decreased susceptibility to Retroviridae infection induced morbidity/mortality MP:0031037 decreased likelihood that an organism will display the expected moribund state caused by a Retroviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:11632 url:https://www.sciencedirect.com/topics/immunology-and-microbiology/retrovirus increased likelihood that an organism will display the expected moribund state caused by a Retroviridae infection or from components of or toxins produced by a virus from this Family decreased resistance to Retroviridae infection induced morbidity/mortality increased sensitivity to Retroviridae infection induced morbidity/mortality MPheno.ontology MP:0031038 increased susceptibility to Retroviridae infection induced morbidity/mortality MP:0031038 increased likelihood that an organism will display the expected moribund state caused by a Retroviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:11632 url:https://www.sciencedirect.com/topics/immunology-and-microbiology/retrovirus decreased likelihood that an organism will display the expected moribund state caused by a Picornaviridae infection or from components of or toxins produced by a virus from this Family increased resistance to Picornaviridae infection induced morbidity/mortality reduced sensitivity to Picornaviridae infection induced morbidity/mortality MPheno.ontology MP:0031039 decreased susceptibility to Picornaviridae infection induced morbidity/mortality MP:0031039 decreased likelihood that an organism will display the expected moribund state caused by a Picornaviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:12058 url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/positive-sense-rna-viruses/picornavirales/w/picornaviridae increased likelihood that an organism will display the expected moribund state caused by a Picornaviridae infection or from components of or toxins produced by a virus from this Family decreased resistance to Picornaviridae infection induced morbidity/mortality increased sensitvity to Picornaviridae infection induced morbidity/mortality MPheno.ontology MP:0031040 increased susceptibility to Picornaviridae infection induced morbidity/mortality MP:0031040 increased likelihood that an organism will display the expected moribund state caused by a Picornaviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:12058 url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/positive-sense-rna-viruses/picornavirales/w/picornaviridae decreased likelihood that an organism will display the expected moribund state caused by a Togaviridae infection or from components of or toxins produced by a virus from this Family increased resistance to Togaviridae infection induced morbidity/mortality reduced sensitivity to Togaviridae infection induced morbidity/mortality MPheno.ontology MP:0031041 decreased susceptibility to Togaviridae infection induced morbidity/mortality MP:0031041 decreased likelihood that an organism will display the expected moribund state caused by a Togaviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:11018 url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/positive-sense-rna-viruses/w/togaviridae increased likelihood that an organism will display the expected moribund state caused by a Togaviridae infection or from components of or toxins produced by a virus from this Family decreased resistance to Togaviridae infection induced morbidity/mortality increased sensitivity to Togaviridae infection induced morbidity/mortality MPheno.ontology MP:0031042 increased susceptibility to Togaviridae infection induced morbidity/mortality MP:0031042 increased likelihood that an organism will display the expected moribund state caused by a Togaviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:11018 url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/positive-sense-rna-viruses/w/togaviridae decreased likelihood that an organism will display the expected moribund state caused by a Flaviviridae infection or from components of or toxins produced by a virus from this Family increased resistance to Flaviviridae infection induced morbidity/mortality reduced sensitivity to Flaviviridae infection induced morbidity/mortality MPheno.ontology MP:0031043 decreased susceptibility to Flaviviridae infection induced morbidity/mortality MP:0031043 decreased likelihood that an organism will display the expected moribund state caused by a Flaviviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:11050 url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/positive-sense-rna-viruses/w/flaviviridae increased likelihood that an organism will display the expected moribund state caused by a Flaviviridae infection or from components of or toxins produced by a virus from this Family decreased resistance to Flaviviridae infection induced morbidity/mortality increased sensitivity to Flaviviridae infection induced morbidity/mortality MPheno.ontology MP:0031044 increased susceptibility to Flaviviridae infection induced morbidity/mortality MP:0031044 increased likelihood that an organism will display the expected moribund state caused by a Flaviviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:11050 url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/positive-sense-rna-viruses/w/flaviviridae decreased likelihood that an organism will display the expected moribund state caused by an Orthomyxoviridae infection or from components of or toxins produced by a virus from this Family increased resistance to Orthomyxoviridae infection induced morbidity/mortality reduced sensitivity to Orthomyxoviridae infection induced morbidity/mortality MPheno.ontology MP:0031045 decreased susceptibility to Orthomyxoviridae infection induced morbidity/mortality MP:0031045 decreased likelihood that an organism will display the expected moribund state caused by an Orthomyxoviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:11308 url:https://www.sciencedirect.com/topics/immunology-and-microbiology/orthomyxoviridae increased likelihood that an organism will display the expected moribund state caused by an Orthomyxoviridae infection or from components of or toxins produced by a virus from this Family decreased resistance to Orthomyxoviridae infection induced morbidity/mortality increased sensitivity to Orthomyxoviridae infection induced morbidity/mortality MPheno.ontology MP:0031046 increased susceptibility to Orthomyxoviridae infection induced morbidity/mortality MP:0031046 increased likelihood that an organism will display the expected moribund state caused by an Orthomyxoviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:11308 url:https://www.sciencedirect.com/topics/immunology-and-microbiology/orthomyxoviridae decreased likelihood that an organism will display the expected moribund state caused by a Coronaviridae infection or from components of or toxins produced by a virus from this Family increased resistance to Coronaviridae infection induced morbidity/mortality reduced sensitivity to Coronaviridae infection induced morbidity/mortality MPheno.ontology MP:0031047 decreased susceptibility to Coronaviridae infection induced morbidity/mortality MP:0031047 decreased likelihood that an organism will display the expected moribund state caused by a Coronaviridae infection or from components of or toxins produced by a virus from this Family PMID:30568804 PMID:6654644 increased likelihood that an organism will display the expected moribund state caused by a Coronaviridae infection or from components of or toxins produced by a virus from this Family decreased resistance to Coronaviridae infection induced morbidity/mortality increased sensitivity to Coronaviridae infection induced morbidity/mortality MPheno.ontology MP:0031048 increased susceptibility to Coronaviridae infection induced morbidity/mortality MP:0031048 increased likelihood that an organism will display the expected moribund state caused by a Coronaviridae infection or from components of or toxins produced by a virus from this Family PMID:30568804 PMID:6654644 decreased likelihood that an organism will display the expected moribund state caused by a Paramyxoviridae infection or from components of or toxins produced by a virus from this Family increased resistance to Paramyxoviridae infection induced morbidity/mortality reduced sensitivity to Paramyxoviridae infection induced morbidity/mortality MPheno.ontology MP:0031049 decreased susceptibility to Paramyxoviridae infection induced morbidity/mortality MP:0031049 decreased likelihood that an organism will display the expected moribund state caused by a Paramyxoviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:11158 url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/negative-sense-rna-viruses/mononegavirales/w/paramyxoviridae increased likelihood that an organism will display the expected moribund state caused by a Paramyxoviridae infection or from components of or toxins produced by a virus from this Family decreased resistance to Paramyxoviridae infection induced morbidity/mortality increased sensitivity to Paramyxoviridae infection induced morbidity/mortality MPheno.ontology MP:0031050 increased susceptibility to Paramyxoviridae infection induced morbidity/mortality MP:0031050 increased likelihood that an organism will display the expected moribund state caused by a Paramyxoviridae infection or from components of or toxins produced by a virus from this Family NCBITaxon:11158 url:https://talk.ictvonline.org/ictv-reports/ictv_online_report/negative-sense-rna-viruses/mononegavirales/w/paramyxoviridae bleeding into one or more lymph nodes 2020-05-25T13:31:07Z haemorrhagic lymph node hemorrhagic lymph node lymph node haemorrhage MPheno.ontology MP:0031051 lymph node hemorrhage MP:0031051 bleeding into one or more lymph nodes https://orcid.org/0000-0002-6490-7723 morphological changes resulting from pathological death of some or all lymph node tissue; usually due to irreversible damage 2020-05-25T13:54:18Z necrotic lymph node necrotic lymph nodes MPheno.ontology MP:0031052 lymph node necrosis MP:0031052 morphological changes resulting from pathological death of some or all lymph node tissue; usually due to irreversible damage https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in the invaginated serous membrane that surrounds the lungs (visceral portion) and lines the walls of the pleural cavity (parietal portion) 2020-05-25T14:05:07Z pleura inflammation pleurisy MPheno.ontology MP:0031053 pleuritis MP:0031053 local accumulation of fluid, plasma proteins, and leukocytes in the invaginated serous membrane that surrounds the lungs (visceral portion) and lines the walls of the pleural cavity (parietal portion) https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in the noncartilaginous conducting airways of the lungs found terminal to the bronchi 2020-05-25T14:21:39Z bronchiolar inflammation MPheno.ontology MP:0031054 bronchiolitis MP:0031054 local accumulation of fluid, plasma proteins, and leukocytes in the noncartilaginous conducting airways of the lungs found terminal to the bronchi https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in the bronchial tubes 2020-05-25T14:31:54Z bronchial inflammation bronchus inflammation MPheno.ontology MP:0031055 bronchitis MP:0031055 local accumulation of fluid, plasma proteins, and leukocytes in the bronchial tubes https://orcid.org/0000-0002-6490-7723 subjects demonstrate predilection for bitter tasting substances over other offered substances 2020-05-25T15:51:35Z MPheno.ontology MP:0031056 bitter preference MP:0031056 subjects demonstrate predilection for bitter tasting substances over other offered substances RGD:gthayman https://orcid.org/0000-0002-6490-7723 subjects demonstrate a low predilection for bitter tasting substances over other offered substances 2020-05-25T15:56:43Z MPheno.ontology MP:0031057 low bitter preference MP:0031057 subjects demonstrate a low predilection for bitter tasting substances over other offered substances RGD:gthayman https://orcid.org/0000-0002-6490-7723 simultaneous enlargement of the liver and spleen 2020-05-28T12:01:17Z enlarged liver and spleen enlarged liver and spleen size increased liver and spleen size MPheno.ontology MP:0031058 hepatosplenomegaly MP:0031058 simultaneous enlargement of the liver and spleen HP:0001433 abnormal elevation of the plasma protein that circulates in increased amounts during inflammation or after tissue damage and binds to phosphocholine expressed on the surface of dead or dying cells, including all types of pneumococci, in order to activate the complement system via the C1Q complex 2020-05-28T12:23:55Z elevated circulating CRP level increased circulating CRP level MPheno.ontology MP:0031059 increased circulating C-reactive protein level MP:0031059 abnormal elevation of the plasma protein that circulates in increased amounts during inflammation or after tissue damage and binds to phosphocholine expressed on the surface of dead or dying cells, including all types of pneumococci, in order to activate the complement system via the C1Q complex https://orcid.org/0000-0002-6490-7723 abnormal reduction of the plasma protein that circulates in increased amounts during inflammation or after tissue damage and binds to phosphocholine expressed on the surface of dead or dying cells, including all types of pneumococci, in order to activate the complement system via the C1Q complex 2020-05-28T12:30:11Z decreased circulating CRP level reduced circulating C-reactive protein level reduced circulating CRP level MPheno.ontology MP:0031060 decreased circulating C-reactive protein level MP:0031060 abnormal reduction of the plasma protein that circulates in increased amounts during inflammation or after tissue damage and binds to phosphocholine expressed on the surface of dead or dying cells, including all types of pneumococci, in order to activate the complement system via the C1Q complex https://orcid.org/0000-0002-6490-7723 a deviation in the rate at which red blood cells (RBCs) descend under the influence of gravity in a vertical column of anticoagulated whole blood over a period of one hour; the rate at which RBCs settle out from the plasma is measured as the number of millimeters of clear plasma present at the top of the column after one hour (mm/hr); a non-specific measure of inflammation 2020-05-28T12:41:08Z abnormal ESR abnormal Westergren sedimentation rate abnormal blood sedimentation rate MPheno.ontology abnormal sed rate MP:0031061 abnormal erythrocyte sedimentation rate MP:0031061 a deviation in the rate at which red blood cells (RBCs) descend under the influence of gravity in a vertical column of anticoagulated whole blood over a period of one hour; the rate at which RBCs settle out from the plasma is measured as the number of millimeters of clear plasma present at the top of the column after one hour (mm/hr); a non-specific measure of inflammation HP:0025021 http://www.medicine.mcgill.ca/physio/vlab/bloodlab/esr.htmnerythrocyte a reduction in the rate at which red blood cells (RBCs) descend under the influence of gravity in a vertical column of anticoagulated whole blood over a period of one hour; a decreased rate may be seen in polycythemia or in certain blood diseases in which RBCs have an irregular or smaller shape that causes slower settling 2020-05-28T12:50:14Z decreased ESR decreased blood sedimentation rate low ESR reduced ESR reduced erythrocyte sedimentation rate MPheno.ontology MP:0031062 decreased erythrocyte sedimentation rate MP:0031062 a reduction in the rate at which red blood cells (RBCs) descend under the influence of gravity in a vertical column of anticoagulated whole blood over a period of one hour; a decreased rate may be seen in polycythemia or in certain blood diseases in which RBCs have an irregular or smaller shape that causes slower settling HP:0025022 http://www.medicine.mcgill.ca/physio/vlab/bloodlab/esr.htmnerythrocyte an increase in the rate at which red blood cells descend under the influence of gravity in a vertical column of anticoagulated whole blood over a period of one hour; an elevated rate may indicate inflammation or may be caused by any condition that elevates fibrinogen 2020-05-28T12:54:26Z elevated ESR elevated blood sedimentation rate high ESR increased ESR increased blood sedimentation rate MPheno.ontology MP:0031063 increased erythrocyte sedimentation rate MP:0031063 an increase in the rate at which red blood cells descend under the influence of gravity in a vertical column of anticoagulated whole blood over a period of one hour; an elevated rate may indicate inflammation or may be caused by any condition that elevates fibrinogen HP:0003565 http://www.medicine.mcgill.ca/physio/vlab/bloodlab/esr.htmnerythrocyte any anomaly in the blood concentration of procalcitonin, a peptide precursor of the hormone calcitonin produced by parafollicular cells (C cells) of the thyroid and by the neuroendocrine cells of the lung and the intestine; the level of procalcitonin is virtually undetectable in the bloodstream of healthy individuals but can rise significantly in systemic bacterial infections and sepsis 2020-05-28T13:04:11Z abnormal circulating PCT level MPheno.ontology MP:0031064 abnormal circulating procalcitonin level MP:0031064 any anomaly in the blood concentration of procalcitonin, a peptide precursor of the hormone calcitonin produced by parafollicular cells (C cells) of the thyroid and by the neuroendocrine cells of the lung and the intestine; the level of procalcitonin is virtually undetectable in the bloodstream of healthy individuals but can rise significantly in systemic bacterial infections and sepsis https://en.wikipedia.org/wiki/Procalcitonin https://orcid.org/0000-0002-6490-7723 greater concentration in the blood of procalcitonin, a peptide precursor of the hormone calcitonin produced by parafollicular cells (C cells) of the thyroid and by the neuroendocrine cells of the lung and the intestine; the level of procalcitonin is virtually undetectable in the bloodstream of healthy individuals but can rise significantly in systemic bacterial infections and sepsis; it does not rise significantly with viral or non-infectious inflammations 2020-05-28T13:09:19Z increased circulating PCT level MPheno.ontology MP:0031065 increased circulating procalcitonin level MP:0031065 greater concentration in the blood of procalcitonin, a peptide precursor of the hormone calcitonin produced by parafollicular cells (C cells) of the thyroid and by the neuroendocrine cells of the lung and the intestine; the level of procalcitonin is virtually undetectable in the bloodstream of healthy individuals but can rise significantly in systemic bacterial infections and sepsis; it does not rise significantly with viral or non-infectious inflammations https://en.wikipedia.org/wiki/Procalcitonin https://orcid.org/0000-0002-6490-7723 dysregulated and excessive cytokine and chemokine release in response to infection and other stimuli; can cause acute respiratory distress syndrome (ARDS) or multiple-organ dysfunction, leading to physiological deterioration and death 2020-06-02T05:29:49Z MPheno.ontology hypercytokinaemia hypercytokinemia MP:0031066 cytokine storm MP:0031066 dysregulated and excessive cytokine and chemokine release in response to infection and other stimuli; can cause acute respiratory distress syndrome (ARDS) or multiple-organ dysfunction, leading to physiological deterioration and death PMID:32283152 any anomaly in the amount of oxygen bound to hemoglobin in the blood expressed as a percentage of the maximal binding capacity 2020-06-02T05:54:12Z MPheno.ontology MP:0031067 When arterial oxy-hemoglobin saturation is measured by an arterial blood gas it is called SaO2; when arterial oxy-hemoglobin saturation is measured non-invasively by a finger pulse oximeter or handheld pulse oximeter, it is called SpO2. abnormal blood oxygen saturation level MP:0031067 any anomaly in the amount of oxygen bound to hemoglobin in the blood expressed as a percentage of the maximal binding capacity CMO:0001324 https://orcid.org/0000-0002-6490-7723 When arterial oxy-hemoglobin saturation is measured by an arterial blood gas it is called SaO2; when arterial oxy-hemoglobin saturation is measured non-invasively by a finger pulse oximeter or handheld pulse oximeter, it is called SpO2. https://www.amperordirect.com/pc/help-pulse-oximeter/z-what-is-oxygen-saturation.html a reduction in the amount of oxygen bound to hemoglobin in the blood expressed as a percentage of the maximal binding capacity 2020-06-02T06:07:27Z low blood oxygen saturation level reduced blood oxygen saturation level MPheno.ontology MP:0031068 decreased blood oxygen saturation level MP:0031068 a reduction in the amount of oxygen bound to hemoglobin in the blood expressed as a percentage of the maximal binding capacity CMO:0001324 https://orcid.org/0000-0002-6490-7723 an increase in the amount of oxygen bound to hemoglobin in the blood expressed as a percentage of the maximal binding capacity 2020-06-02T06:20:58Z high blood oxygen saturation level MPheno.ontology MP:0031069 increased blood oxygen saturation level MP:0031069 an increase in the amount of oxygen bound to hemoglobin in the blood expressed as a percentage of the maximal binding capacity CMO:0001324 https://orcid.org/0000-0002-6490-7723 a pathologic process of engulfment of erythrocytes, leukocytes, platelets, and their precursors by histiocytes, either in the bone marrow or in other parts of the reticuloendothelial system; it is a nonspecific phenotypic feature observed in several conditions including hemolytic anemia, malignant disease, infections, and hemophagocytic syndrome (also known as hemophagocytic lymphohistiocytosis, a rare hyperinflammatory syndrome caused by severe hypercytokinemia due to a highly stimulated but ineffective immune process) 2020-06-02T06:35:09Z haemophagocytosis MPheno.ontology MP:0031070 hemophagocytosis MP:0031070 a pathologic process of engulfment of erythrocytes, leukocytes, platelets, and their precursors by histiocytes, either in the bone marrow or in other parts of the reticuloendothelial system; it is a nonspecific phenotypic feature observed in several conditions including hemolytic anemia, malignant disease, infections, and hemophagocytic syndrome (also known as hemophagocytic lymphohistiocytosis, a rare hyperinflammatory syndrome caused by severe hypercytokinemia due to a highly stimulated but ineffective immune process) HP:0012156 http://www.mjdrdypv.org/text.asp?2019/12/1/22/250440 acquired diminution of the size of lymph node tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation 2020-06-02T06:55:14Z atrophic lymph node MPheno.ontology MP:0031071 lymph node atrophy MP:0031071 acquired diminution of the size of lymph node tissue associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation https://orcid.org/0000-0002-6490-7723 any deviation from the normal amount of type I collagen C-terminal telopeptide (CTX) in the blood circulation; beta-CTX is released into the bloodstream during bone resorption and serves as a specific marker for the degradation of mature type I collagen 2020-06-02T07:06:40Z MPheno.ontology abnormal blood CTX level abnormal level of blood carboxy-terminal collagen crosslinks MP:0031072 abnormal circulating type I collagen C-terminal telopeptide level MP:0031072 any deviation from the normal amount of type I collagen C-terminal telopeptide (CTX) in the blood circulation; beta-CTX is released into the bloodstream during bone resorption and serves as a specific marker for the degradation of mature type I collagen CMO:0002818 https://orcid.org/0000-0002-6490-7723 https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/83175 less than the normal amount of type I collagen C-terminal telopeptide (CTX) in the blood circulation; beta-CTX is released into the bloodstream during bone resorption and serves as a specific marker for the degradation of mature type I collagen 2020-06-02T07:15:21Z reduced circulating type I collagen C-terminal telopeptide level MPheno.ontology decreased blood CTX level decreased level of blood carboxy-terminal collagen crosslinks MP:0031073 decreased circulating type I collagen C-terminal telopeptide level MP:0031073 less than the normal amount of type I collagen C-terminal telopeptide (CTX) in the blood circulation; beta-CTX is released into the bloodstream during bone resorption and serves as a specific marker for the degradation of mature type I collagen CMO:0002818 https://orcid.org/0000-0002-6490-7723 https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/83175 greater than the normal amount of type I collagen C-terminal telopeptide (CTX) in the blood circulation; beta-CTX is released into the bloodstream during bone resorption and serves as a specific marker for the degradation of mature type I collagen; elevated serum levels of beta-CTX indicate increased bone resorption 2020-06-02T07:24:29Z elevated circulating type I collagen C-terminal telopeptide level increased serum type I collagen C-terminal telopeptide level MPheno.ontology increased blood CTX level increased level of blood carboxy-terminal collagen crosslinks MP:0031074 increased circulating type I collagen C-terminal telopeptide level MP:0031074 greater than the normal amount of type I collagen C-terminal telopeptide (CTX) in the blood circulation; beta-CTX is released into the bloodstream during bone resorption and serves as a specific marker for the degradation of mature type I collagen; elevated serum levels of beta-CTX indicate increased bone resorption CMO:0002818 https://orcid.org/0000-0002-6490-7723 https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/83175 eviation from the normal concentration in the blood of troponin, a complex of three contractile regulatory proteins (troponin C, T and I) that control the calcium mediated interactions between actin and myosin in cardiac and skeletal muscles; in humans, cardiac-specific troponins I and T are regarded as the preferred biomarkers for the diagnosis of myocardial infarction due to their unique specificity for myocardial cell injury/necrosis 2020-06-02T10:30:19Z MPheno.ontology MP:0031075 abnormal circulating troponin level MP:0031075 eviation from the normal concentration in the blood of troponin, a complex of three contractile regulatory proteins (troponin C, T and I) that control the calcium mediated interactions between actin and myosin in cardiac and skeletal muscles; in humans, cardiac-specific troponins I and T are regarded as the preferred biomarkers for the diagnosis of myocardial infarction due to their unique specificity for myocardial cell injury/necrosis PMID:15452153 https://orcid.org/0000-0002-6490-7723 reduced concentration in the blood of troponin, a complex of three contractile regulatory proteins (troponin C, T and I) that control the calcium mediated interactions between actin and myosin in cardiac and skeletal muscles; in humans, cardiac-specific troponins I and T are regarded as the preferred biomarkers for the diagnosis of myocardial infarction due to their unique specificity for myocardial cell injury/necrosis 2020-06-02T10:39:55Z reduced circulating troponin level MPheno.ontology MP:0031076 decreased circulating troponin level MP:0031076 reduced concentration in the blood of troponin, a complex of three contractile regulatory proteins (troponin C, T and I) that control the calcium mediated interactions between actin and myosin in cardiac and skeletal muscles; in humans, cardiac-specific troponins I and T are regarded as the preferred biomarkers for the diagnosis of myocardial infarction due to their unique specificity for myocardial cell injury/necrosis PMID:15452153 https://orcid.org/0000-0002-6490-7723 increased concentration in the blood of troponin, a complex of three contractile regulatory proteins (troponin C, T and I) that control the calcium mediated interactions between actin and myosin in cardiac and skeletal muscles; in humans, elevated serum levels of cardiac-specific troponins (I and T) are highly sensitive and specific indicators of myocardial injury and used in the diagnosis of myocardial infarction 2020-06-02T10:45:54Z elevated circulating troponin level MPheno.ontology MP:0031077 increased circulating troponin level MP:0031077 increased concentration in the blood of troponin, a complex of three contractile regulatory proteins (troponin C, T and I) that control the calcium mediated interactions between actin and myosin in cardiac and skeletal muscles; in humans, elevated serum levels of cardiac-specific troponins (I and T) are highly sensitive and specific indicators of myocardial injury and used in the diagnosis of myocardial infarction PMID:15452153 https://orcid.org/0000-0002-6490-7723 greater than the normal concentration in the blood of troponin T (TnT), a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin; elevated serum cardiac troponin T levels are highly sensitive and specific indicators of myocardial injury and used in the diagnosis of myocardial infarction 2020-06-02T10:50:15Z increased serum cardiac troponin T levels MPheno.ontology MP:0031078 increased circulating troponin T level MP:0031078 greater than the normal concentration in the blood of troponin T (TnT), a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin; elevated serum cardiac troponin T levels are highly sensitive and specific indicators of myocardial injury and used in the diagnosis of myocardial infarction HP:0410174 PMID:15452153 https://orcid.org/0000-0002-6490-7723 greater than the normal concentration in the blood of troponin I (TnI), a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin; elevated serum cardiac troponin I levels are highly sensitive and specific indicators of myocardial injury and used in the diagnosis of myocardial infarction 2020-06-02T10:55:46Z increased serum cardiac troponin I level MPheno.ontology MP:0031079 increased circulating troponin I level MP:0031079 greater than the normal concentration in the blood of troponin I (TnI), a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin; elevated serum cardiac troponin I levels are highly sensitive and specific indicators of myocardial injury and used in the diagnosis of myocardial infarction HP:0410173 PMID:15452153 https://orcid.org/0000-0002-6490-7723 an embolus (an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung; usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery 2020-06-11T08:33:24Z blood clot in artery of lung pulmonary artery embolism pulmonary embolus MPheno.ontology MP:0031080 pulmonary embolism MP:0031080 an embolus (an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung; usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery HP:0002204 any anomaly in the concentration in the blood of this fibrin degradation product (FDP), a small protein fragment present in the blood after a blood clot is degraded by fibrinolysis; D-dimer constitutes two adjacent fibrin D domains that are cross-linked and released as an intact fragment 2020-06-11T09:02:27Z MPheno.ontology MP:0031081 abnormal circulating D-dimer level MP:0031081 any anomaly in the concentration in the blood of this fibrin degradation product (FDP), a small protein fragment present in the blood after a blood clot is degraded by fibrinolysis; D-dimer constitutes two adjacent fibrin D domains that are cross-linked and released as an intact fragment https://en.wikipedia.org/wiki/D-dimer https://medical-dictionary.thefreedictionary.com/d-dimer+test reduced concentration in the blood of this fibrin degradation product (FDP), a small protein fragment present in the blood after a blood clot is degraded by fibrinolysis 2020-06-11T09:10:32Z reduced circulating D-dimer level MPheno.ontology MP:0031082 decreased circulating D-dimer level MP:0031082 reduced concentration in the blood of this fibrin degradation product (FDP), a small protein fragment present in the blood after a blood clot is degraded by fibrinolysis https://en.wikipedia.org/wiki/D-dimer https://medical-dictionary.thefreedictionary.com/d-dimer+test increased concentration in the blood of this fibrin degradation product (FDP), a small protein fragment present in the blood after a blood clot is degraded by fibrinolysis; elevations can occur as a result of thrombotic disease (such as deep-vein thrombosis, pulmonary embolism or disseminated intravascular coagulation), in vasoocclusive crisis of sickle cell anemia, in malignancies, and in surgery 2020-06-11T09:14:49Z elevated D-dimer level MPheno.ontology MP:0031083 increased circulating D-dimer level MP:0031083 increased concentration in the blood of this fibrin degradation product (FDP), a small protein fragment present in the blood after a blood clot is degraded by fibrinolysis; elevations can occur as a result of thrombotic disease (such as deep-vein thrombosis, pulmonary embolism or disseminated intravascular coagulation), in vasoocclusive crisis of sickle cell anemia, in malignancies, and in surgery https://en.wikipedia.org/wiki/D-dimer https://medical-dictionary.thefreedictionary.com/d-dimer+test decreased propensity of erythrocytes to hemolyze when exposed to increasingly hypotonic saline solutions; seen in chronic liver disease, iron deficiency anemia, thalassemia, hyponatremia, polycythemia vera, and sickle cell anemia after splenectomy 2020-06-11T10:57:03Z decreased RBC osmotic fragility decreased erythrocyte sensitivity to osmotic lysis increased RBC resistance to osmotic lysis increased erythrocyte resistance to osmotic lysis increased red blood cell resistance to osmotic lysis reduced RBC osmotic fragility reduced erythrocyte osmotic fragility reduced red blood cell osmotic fragility MPheno.ontology MP:0031084 decreased erythrocyte osmotic fragility MP:0031084 decreased propensity of erythrocytes to hemolyze when exposed to increasingly hypotonic saline solutions; seen in chronic liver disease, iron deficiency anemia, thalassemia, hyponatremia, polycythemia vera, and sickle cell anemia after splenectomy http://www.clinlabnavigator.com/osmotic-fragility-of-red-blood-cells-unincubated-and-incubated.html https://en.wikipedia.org/wiki/Erythrocyte_fragility https://orcid.org/0000-0002-6490-7723 increased propensity of erythrocytes to hemolyze when exposed to increasingly hypotonic saline solutions; seen in hereditary spherocytosis, some forms of hemolytic anemia, and hypernatremia 2020-06-11T11:03:19Z decreased RBC resistance to osmotic lysis decreased erythrocyte resistance to osmotic lysis decreased red blood cell resistance to osmotic lysis increased RBC osmotic fragility increased erythrocyte sensitivity to osmotic lysis increased red blood cell osmotic fragility MPheno.ontology MP:0031085 increased erythrocyte osmotic fragility MP:0031085 increased propensity of erythrocytes to hemolyze when exposed to increasingly hypotonic saline solutions; seen in hereditary spherocytosis, some forms of hemolytic anemia, and hypernatremia https://en.wikipedia.org/wiki/Erythrocyte_fragility https://medical-dictionary.thefreedictionary.com/osmotic+fragility https://orcid.org/0000-0002-6490-7723 a high-pitched whistling sound associated with labored breathing 2020-06-11T11:36:17Z wheeze MPheno.ontology MP:0031086 wheezing MP:0031086 a high-pitched whistling sound associated with labored breathing HP:0030828 PMID:26229557 any anomaly in the shedding of alveolar epithelial cells into the alveolar space in response to infection/injury 2020-06-11T12:03:19Z abnormal desquamation of alveolar epithelial cells abnormal pneumonocyte desquamation MPheno.ontology MP:0031087 abnormal pneumocyte desquamation MP:0031087 any anomaly in the shedding of alveolar epithelial cells into the alveolar space in response to infection/injury https://orcid.org/0000-0002-6490-7723 a sudden expulsion of air through the large breathing passages that can help clear them of fluids, irritants, foreign particles and microbes; as a protective reflex, coughing can be repetitive with the cough reflex following three phases: an inhalation, a forced exhalation against a closed glottis, and a violent release of air from the lungs following opening of the glottis, usually accompanied by a distinctive sound 2020-06-12T12:26:37Z cough tussis MPheno.ontology MP:0031088 coughing MP:0031088 a sudden expulsion of air through the large breathing passages that can help clear them of fluids, irritants, foreign particles and microbes; as a protective reflex, coughing can be repetitive with the cough reflex following three phases: an inhalation, a forced exhalation against a closed glottis, and a violent release of air from the lungs following opening of the glottis, usually accompanied by a distinctive sound HP:0012735 https://en.wikipedia.org/wiki/Cough a semi-autonomous, convulsive expulsion of air from the lungs through the nose and mouth, usually caused by foreign particles irritating the nasal mucosa; a sneeze expels air forcibly from the mouth and nose in an explosive, audible, spasmodic involuntary action resulting chiefly from irritation of the nasal mucous membrane 2020-06-12T12:33:47Z sneeze sternutation MPheno.ontology MP:0031089 sneezing MP:0031089 a semi-autonomous, convulsive expulsion of air from the lungs through the nose and mouth, usually caused by foreign particles irritating the nasal mucosa; a sneeze expels air forcibly from the mouth and nose in an explosive, audible, spasmodic involuntary action resulting chiefly from irritation of the nasal mucous membrane HP:0025095 https://en.wikipedia.org/wiki/Sneeze complete absence or loss of the sense of taste, i.e. inability to detect sweetness, sourness, bitterness, saltiness, and umami (pleasant/savory taste) 2020-06-12T16:02:26Z ageustia gustatory anesthesia MPheno.ontology MP:0031090 ageusia MP:0031090 complete absence or loss of the sense of taste, i.e. inability to detect sweetness, sourness, bitterness, saltiness, and umami (pleasant/savory taste) https://medical-dictionary.thefreedictionary.com/ageusia https://www.slideshare.net/RizgarSaeed1/disturbances-of-taste-dysgeusia-hypogeusia-and-ageusia partial loss of taste or reduced ability to detect sweetness, sourness, bitterness, saltiness and/or umami (pleasant/savory taste); may be general to all tastants, partial to some tastants, or specific to one or more tastants 2020-06-12T16:14:54Z amblygeustia decreased taste sensitivity hypogeusesthesia partial loss of taste reduced taste sensitivity MPheno.ontology MP:0031091 hypogeusia MP:0031091 partial loss of taste or reduced ability to detect sweetness, sourness, bitterness, saltiness and/or umami (pleasant/savory taste); may be general to all tastants, partial to some tastants, or specific to one or more tastants https://medical-dictionary.thefreedictionary.com/hypogeusia a distortion or an alteration in the perception of a tastant; an unpleasant perception may occur when a normally pleasant taste is present, or the perception may occur when no tastant is present 2020-06-12T16:20:49Z altered taste sensation distorted taste sensation parageusia MPheno.ontology MP:0031092 dysgeusia MP:0031092 a distortion or an alteration in the perception of a tastant; an unpleasant perception may occur when a normally pleasant taste is present, or the perception may occur when no tastant is present https://medical-dictionary.thefreedictionary.com/dysgeusia altered function in two or more organ systems during an acute illness such that homeostasis cannot be maintained without intervention 2020-06-12T16:30:15Z multi-organ failure multiple organ system failure multiple system organ failure multisystem organ failure MPheno.ontology MP:0031093 multiple organ failure MP:0031093 altered function in two or more organ systems during an acute illness such that homeostasis cannot be maintained without intervention https://litfl.com/multiple-organ-dysfunction-syndrome/ abnormal enlargement of one or more visceral organs (internal organs enclosed in a cavity) of the body 2020-06-12T17:30:41Z MPheno.ontology MP:0031094 organomegaly MP:0031094 abnormal enlargement of one or more visceral organs (internal organs enclosed in a cavity) of the body ISBN:9780803609945 https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins and leukocytes in the pharynx, most often caused by viral or bacterial infections; less common causes include allergies, trauma, cancer, reflux, and certain toxins 2020-06-17T13:56:12Z pharyngeal inflammation pharynx inflammation MPheno.ontology sore throat MP:0031095 pharyngitis MP:0031095 local accumulation of fluid, plasma proteins and leukocytes in the pharynx, most often caused by viral or bacterial infections; less common causes include allergies, trauma, cancer, reflux, and certain toxins https://orcid.org/0000-0002-6490-7723 https://www.ncbi.nlm.nih.gov/books/NBK519550/ abnormal dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera 2020-06-17T14:12:06Z conjunctival hyperaemia conjunctival injection conjunctival vascular congestion MPheno.ontology MP:0031096 conjunctival hyperemia MP:0031096 abnormal dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera HP:0030953 abnormal swelling (or edema) of the conjunctiva; in chemosis, the integrity of conjunctival capillaries is compromised, leading to increased permeability and leakage of serous fluid; causes include conjunctival irritation, infection, inflammation, trauma, and severe intraorbital inflammation 2020-06-17T14:39:46Z conjunctival edema conjunctival oedema MPheno.ontology MP:0031097 conjunctival chemosis MP:0031097 abnormal swelling (or edema) of the conjunctiva; in chemosis, the integrity of conjunctival capillaries is compromised, leading to increased permeability and leakage of serous fluid; causes include conjunctival irritation, infection, inflammation, trauma, and severe intraorbital inflammation HP:0012375 https://link.springer.com/referenceworkentry/10.1007%2F978-3-642-35951-4_765-1 any anomaly in the amount of material expectorated (coughed up) from the respiratory system; sputum is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin in disease states 2020-06-17T14:53:04Z abnormal expectoration MPheno.ontology MP:0031098 abnormal sputum production MP:0031098 any anomaly in the amount of material expectorated (coughed up) from the respiratory system; sputum is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin in disease states https://orcid.org/0000-0002-6490-7723 https://www.merriam-webster.com/dictionary/sputum any anomaly in the gross appearance or other physical characteristics of sputum, that is, the material expectorated (coughed up) from the respiratory system, including its color, consistency, taste, and smell; sputum is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin in disease states 2020-06-17T15:08:03Z MPheno.ontology MP:0031099 abnormal sputum morphology MP:0031099 any anomaly in the gross appearance or other physical characteristics of sputum, that is, the material expectorated (coughed up) from the respiratory system, including its color, consistency, taste, and smell; sputum is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin in disease states https://www.merriam-webster.com/dictionary/sputum https://www.ncbi.nlm.nih.gov/books/NBK359/ expectoration (coughing up) of blood or blood-tinged sputum from the lungs or tracheobronchial tree 2020-06-17T15:27:40Z coughing up of blood expectoration of blood expectoration of blood-stained sputum haemoptysis MPheno.ontology bloody sputum coughing up blood or blood-stained mucus MP:0031100 hemoptysis MP:0031100 expectoration (coughing up) of blood or blood-tinged sputum from the lungs or tracheobronchial tree https://www.ncbi.nlm.nih.gov/books/NBK360/ a blockage within the nasal cavity, resulting in insufficient airflow through the nose; causes of obstruction include swelling of the mucous membrane (nasal congestion), nasal polyps, nasopharyngeal carcinoma or foreign bodies 2020-06-17T15:42:46Z blockage of nose nasal blockage obstruction of nose MPheno.ontology MP:0031101 nasal obstruction MP:0031101 a blockage within the nasal cavity, resulting in insufficient airflow through the nose; causes of obstruction include swelling of the mucous membrane (nasal congestion), nasal polyps, nasopharyngeal carcinoma or foreign bodies https://medical-dictionary.thefreedictionary.com/nasal+obstruction https://www.uptodate.com/contents/nasal-obstruction-diagnosis-and-management increased discharge of fluid (typically a watery mucus fluid) from the nose; a common symptom of allergies or certain viral infections 2020-06-17T15:59:48Z fluid dripping from the nose rhinorrhoea runny nose MPheno.ontology MP:0031102 rhinorrhea MP:0031102 increased discharge of fluid (typically a watery mucus fluid) from the nose; a common symptom of allergies or certain viral infections https://www.lexico.com/definition/rhinorrhoea https://www.mayoclinic.org/symptoms/runny-nose/basics/definition/sym-20050640 an eruption in the skin which affects its appearance and/or texture; a rash may be localized to one part of the body, or affect all the skin; rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful 2020-06-22T10:58:11Z cutaneous eruption skin eruption MPheno.ontology MP:0031103 skin rash MP:0031103 an eruption in the skin which affects its appearance and/or texture; a rash may be localized to one part of the body, or affect all the skin; rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful NCIT:C39594 fine, short, high-pitched, intermittently crackling sounds heard in a lung field that has fluid in the small airways; crackles are commonly heard in the bases of the lung lobes during inspiration; the cause of crackles can be from air passing through fluid, pus or mucus; crackles can be further categorised as coarse or fine: the sound quality of fine crackles is similar to the sound of hair rubbed between your fingers near the ear and may be heard in congestive heart failure and pulmonary fibrosis; coarse crackles are lower-pitched and moist-sounding, like pouring water out of a bottle or ripping open velcro, and are often a sign of adult respiratory distress syndrome (ARDS), early congestive heart failure, asthma and pulmonary edema 2020-06-22T11:17:02Z crepitations rales alveolar rales MPheno.ontology MP:0031104 crackles MP:0031104 fine, short, high-pitched, intermittently crackling sounds heard in a lung field that has fluid in the small airways; crackles are commonly heard in the bases of the lung lobes during inspiration; the cause of crackles can be from air passing through fluid, pus or mucus; crackles can be further categorised as coarse or fine: the sound quality of fine crackles is similar to the sound of hair rubbed between your fingers near the ear and may be heard in congestive heart failure and pulmonary fibrosis; coarse crackles are lower-pitched and moist-sounding, like pouring water out of a bottle or ripping open velcro, and are often a sign of adult respiratory distress syndrome (ARDS), early congestive heart failure, asthma and pulmonary edema https://www.ausmed.com/cpd/articles/rhonchi-vs-rales-wheezing-crackles continuous low-pitched, rattling lung sounds that often resemble snoring, frequently caused by obstruction or secretions in larger airways; they can be heard in chronic obstructive pulmonary disease (COPD), bronchiectasis, pneumonia, chronic bronchitis, or cystic fibrosis 2020-06-22T11:23:24Z rhonchus MPheno.ontology MP:0031105 rhonchi MP:0031105 continuous low-pitched, rattling lung sounds that often resemble snoring, frequently caused by obstruction or secretions in larger airways; they can be heard in chronic obstructive pulmonary disease (COPD), bronchiectasis, pneumonia, chronic bronchitis, or cystic fibrosis https://www.easyauscultation.com/rhonchi a change in the likelihood that an organism will form an eosinophilic hyaline (glass-like) material composed of fibrin, proteinaceous exudate and cellular debris, and lining or filling the alveoli, alveolar ducts and bronchioles 2020-06-22T11:43:24Z altered susceptibility to pulmonary hyaline membrane formation MPheno.ontology MP:0031106 abnormal susceptibility to pulmonary hyaline membrane formation MP:0031106 a change in the likelihood that an organism will form an eosinophilic hyaline (glass-like) material composed of fibrin, proteinaceous exudate and cellular debris, and lining or filling the alveoli, alveolar ducts and bronchioles https://orcid.org/0000-0002-6490-7723 anomaly in the blood level of myoglobin, a low molecular weight oxygen binding heme protein that is normally found exclusively in heart and skeletal muscle cells; in blood, myoglobin is bound primarily to plasma globulins, a complex which is filtered by the kidneys; if the plasma concentration exceeds the plasma binding capacity, myoglobin begins to appear in the urine; monitoring myoglobin levels in blood (and urine) has been used as a means to detect skeletal or cardiac muscle cell injury 2020-06-22T13:04:49Z MPheno.ontology MP:0031107 abnormal circulating myoglobin level MP:0031107 anomaly in the blood level of myoglobin, a low molecular weight oxygen binding heme protein that is normally found exclusively in heart and skeletal muscle cells; in blood, myoglobin is bound primarily to plasma globulins, a complex which is filtered by the kidneys; if the plasma concentration exceeds the plasma binding capacity, myoglobin begins to appear in the urine; monitoring myoglobin levels in blood (and urine) has been used as a means to detect skeletal or cardiac muscle cell injury ISBN:9780124157590 increased blood level of myoglobin, a low molecular weight oxygen binding heme protein that is normally found exclusively in heart and skeletal muscle cells; in blood, myoglobin is bound primarily to plasma globulins, a complex which is filtered by the kidneys; if the plasma concentration exceeds the plasma binding capacity, myoglobin begins to appear in the urine; myoglobin is rapidly released into the bloodstream after muscle damage, and thus can be a useful biomarker in the early phases of heart or skeletal muscle injury 2020-06-22T13:11:41Z elevated blood myoglobin level MPheno.ontology MP:0031108 increased circulating myoglobin level MP:0031108 increased blood level of myoglobin, a low molecular weight oxygen binding heme protein that is normally found exclusively in heart and skeletal muscle cells; in blood, myoglobin is bound primarily to plasma globulins, a complex which is filtered by the kidneys; if the plasma concentration exceeds the plasma binding capacity, myoglobin begins to appear in the urine; myoglobin is rapidly released into the bloodstream after muscle damage, and thus can be a useful biomarker in the early phases of heart or skeletal muscle injury ISBN:9780124157590 bleeding into the space between the arachnoid mater and the pia mater 2020-06-30T08:32:31Z subarachnoid haemorrhage subarachnoid space haemorrhage subarachnoid space hemorrhage MPheno.ontology MP:0031109 subarachnoid hemorrhage MP:0031109 bleeding into the space between the arachnoid mater and the pia mater HP:0002138 local accumulation of fluid, plasma proteins, and leukocytes in the protective membranes (meninges) covering the brain and spinal cord, commonly caused by a bacterial or viral infection 2020-06-30T10:09:04Z inflammation of the meninges meningeal inflammation MPheno.ontology MP:0031110 meningitis MP:0031110 local accumulation of fluid, plasma proteins, and leukocytes in the protective membranes (meninges) covering the brain and spinal cord, commonly caused by a bacterial or viral infection https://en.wikipedia.org/wiki/Meningitis https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in the brain and its surrounding protective membranes (meninges) 2020-06-30T10:22:05Z encephalomeningitis MPheno.ontology MP:0031111 meningoencephalitis MP:0031111 local accumulation of fluid, plasma proteins, and leukocytes in the brain and its surrounding protective membranes (meninges) https://medical-dictionary.thefreedictionary.com/meningoencephalitis https://orcid.org/0000-0002-6490-7723 breakdown of skeletal muscle fibers leading to leakage of muscle contents into the bloodstream; damage to the sarcolemma results in loss of its intrinsic function, an influx of calcium, activation of intracellular proteases, and release of intracellular contents (e.g. myoglobin, creatine phosphokinase, aldolase, lactate dehydrogenase, aspartate transaminase, and potassium) into the circulation; common causes include trauma, prolonged exertion, hyperthermia, infections, electrolyte abnormalities, electrical current injury, drugs or toxins, and conditions that cause tissue hypoxia; complications may include acute renal failure, metabolic abnormalities, and disseminated intravascular congestion 2020-07-07T10:04:24Z MPheno.ontology MP:0031112 rhabdomyolysis MP:0031112 breakdown of skeletal muscle fibers leading to leakage of muscle contents into the bloodstream; damage to the sarcolemma results in loss of its intrinsic function, an influx of calcium, activation of intracellular proteases, and release of intracellular contents (e.g. myoglobin, creatine phosphokinase, aldolase, lactate dehydrogenase, aspartate transaminase, and potassium) into the circulation; common causes include trauma, prolonged exertion, hyperthermia, infections, electrolyte abnormalities, electrical current injury, drugs or toxins, and conditions that cause tissue hypoxia; complications may include acute renal failure, metabolic abnormalities, and disseminated intravascular congestion ISBN:978-1-4160-2971-7 https://www.aafp.org/afp/2002/0301/p907.html replacement of alveolar air by fluid (exudate/transudate/blood), cells (inflammatory), tissue, or other material, rendering the pulmonary parenchyma airless; consolidated tissue is more radio-opaque than normally aerated lung parenchyma, so that it is clearly demonstrable in radiography and on CT scans 2020-07-07T10:54:12Z pulmonary consolidation lung parenchymal consolidation MPheno.ontology MP:0031113 pulmonary parenchymal consolidation MP:0031113 replacement of alveolar air by fluid (exudate/transudate/blood), cells (inflammatory), tissue, or other material, rendering the pulmonary parenchyma airless; consolidated tissue is more radio-opaque than normally aerated lung parenchyma, so that it is clearly demonstrable in radiography and on CT scans doi:10.1097/CPM.0b013e3182a2b140 https://en.wikipedia.org/wiki/Pulmonary_consolidation#Radiology https://radiologykey.com/consolidation-and-atelectasis/ https://radiopaedia.org/articles/lobar-consolidation elevated blood level of the enzyme that catalyzes the transfer of gamma-glutamyl functional groups from molecules such as glutathione to an acceptor that may be an amino acid, a peptide or water (forming glutamate); GGT plays a key role in the gamma-glutamyl cycle, a pathway for the synthesis and degradation of glutathione as well as drug and xenobiotic detoxification; GGT is present in many organs throughout the body, with the highest concentrations found in liver, and elevated in the blood in most diseases that cause damage to the liver or bile ducts 2020-07-07T11:27:05Z increased circulating GGT level increased circulating gamma-GT level increased circulating gamma-glutamyl transpeptidase level MPheno.ontology MP:0031114 increased circulating gamma-glutamyl transferase level MP:0031114 elevated blood level of the enzyme that catalyzes the transfer of gamma-glutamyl functional groups from molecules such as glutathione to an acceptor that may be an amino acid, a peptide or water (forming glutamate); GGT plays a key role in the gamma-glutamyl cycle, a pathway for the synthesis and degradation of glutathione as well as drug and xenobiotic detoxification; GGT is present in many organs throughout the body, with the highest concentrations found in liver, and elevated in the blood in most diseases that cause damage to the liver or bile ducts https://en.wikipedia.org/wiki/Gamma-glutamyltransferase https://labtestsonline.org/tests/gamma-glutamyl-transferase-ggt a common form of hepatic steatosis characterized by the presence of large lipid droplets that displace the nucleus and organelles to the cell periphery in affected hepatocytes; may be caused by oversupply of lipids due to obesity, obstructive sleep apnea, insulin resistance, or alcoholism 2020-07-07T12:25:03Z large droplet steatosis macrovesicular steatosis MPheno.ontology MP:0031115 macrovesicular hepatic steatosis MP:0031115 a common form of hepatic steatosis characterized by the presence of large lipid droplets that displace the nucleus and organelles to the cell periphery in affected hepatocytes; may be caused by oversupply of lipids due to obesity, obstructive sleep apnea, insulin resistance, or alcoholism ISBN:978-0-323-37591-7 https://en.wikipedia.org/wiki/Steatosis a less common form of hepatic steatosis characterized by accumulation of multiple small lipid droplets giving the cytoplasm a foamy appearance without displacing the nucleus in affected hepatocytes; causes include tetracyclines, acute fatty liver of pregnancy, Reye's syndrome, and hepatitis C 2020-07-07T12:29:33Z microvesicular steatosis small droplet steatosis MPheno.ontology MP:0031116 microvesicular hepatic steatosis MP:0031116 a less common form of hepatic steatosis characterized by accumulation of multiple small lipid droplets giving the cytoplasm a foamy appearance without displacing the nucleus in affected hepatocytes; causes include tetracyclines, acute fatty liver of pregnancy, Reye's syndrome, and hepatitis C ISBN:978-0-323-37591-7 https://en.wikipedia.org/wiki/Steatosis bleeding into the subdural space, the potential space between the dura and arachnoid mater of the meninges around the brain 2020-08-25T06:14:55Z subdural haemorrhage MPheno.ontology subdural haematoma subdural hematoma MP:0031117 subdural hemorrhage MP:0031117 bleeding into the subdural space, the potential space between the dura and arachnoid mater of the meninges around the brain HP:0100309 https://radiopaedia.org/articles/subdural-haemorrhage local accumulation of fluid, plasma proteins, and leukocytes in one or more valves of the heart 2020-08-25T06:39:20Z cardiac valve inflammation cardiac valvulitis cardial valve inflammation heart valve inflammation heart valvulitis inflammation of the cardiac valves inflammation of the heart valves MPheno.ontology MP:0031118 cardiovalvulitis MP:0031118 local accumulation of fluid, plasma proteins, and leukocytes in one or more valves of the heart https://medical-dictionary.thefreedictionary.com/cardiovalvulitis presence of an abnormal gas-filled space within a zone of pulmonary consolidation or within a pulmonary mass or nodule appearing as a lucency or low-attenuation area on plain chest radiography or computed tomography; a pulmonary cavity may contain a fluid level and is surrounded by a wall, usually of varied thickness 2020-08-25T07:13:19Z abnormal lung cavities abnormal pulmonary cavities cavitary lung lesion(s) lung cavitation MPheno.ontology MP:0031119 pulmonary cavitation MP:0031119 presence of an abnormal gas-filled space within a zone of pulmonary consolidation or within a pulmonary mass or nodule appearing as a lucency or low-attenuation area on plain chest radiography or computed tomography; a pulmonary cavity may contain a fluid level and is surrounded by a wall, usually of varied thickness PMID:18400799 https://radiopaedia.org/articles/pulmonary-cavitation decreased frequency, rate or severity of thrombus formation following stimulation of thrombosis by an external agent 2020-08-25T09:50:39Z increased resistance to induced thrombosis reduced susceptibility to induced thrombosis MPheno.ontology MP:0031120 This term should be used in conjunction with any mechanical, chemical, physical or infectious agent that induces thrombus formation. decreased susceptibility to induced thrombosis MP:0031120 decreased frequency, rate or severity of thrombus formation following stimulation of thrombosis by an external agent https://orcid.org/0000-0002-6490-7723 increased frequency, rate or severity of thrombus formation following stimulation of thrombosis by an external agent 2020-08-25T10:04:30Z decreased resistance to induced thrombosis MPheno.ontology MP:0031121 This term should be used in conjunction with any mechanical, chemical, physical or infectious agent that induces thrombus formation. increased susceptibility to induced thrombosis MP:0031121 increased frequency, rate or severity of thrombus formation following stimulation of thrombosis by an external agent https://orcid.org/0000-0002-6490-7723 complete absence or loss of neurological reflexes 2020-08-25T10:30:49Z absence of reflexes absent reflexes MPheno.ontology MP:0031122 areflexia MP:0031122 complete absence or loss of neurological reflexes ISBN:9781786842961 https://www.merriam-webster.com/medical/areflexia any structural anomaly of the strong, broad fibrous band that covers and connects the anterolateral aspects of the vertebral bodies and intervertebral (IV) discs; this ligament extends from the pelvic surface of the sacrum to the anterior tubercle of vertebra C1 (atlas) and the occipital bone anterior to the foramen magnum; it prevents hyperflexion of the vertebral column, maintaining stability of the joints between the vertebral bodies; it is the only ligament that limits extension; all other ligaments of the vertebral column, like the IV ligaments, limit forms of flexion 2020-08-25T14:01:06Z MPheno.ontology MP:0031123 abnormal anterior longitudinal ligament morphology MP:0031123 any structural anomaly of the strong, broad fibrous band that covers and connects the anterolateral aspects of the vertebral bodies and intervertebral (IV) discs; this ligament extends from the pelvic surface of the sacrum to the anterior tubercle of vertebra C1 (atlas) and the occipital bone anterior to the foramen magnum; it prevents hyperflexion of the vertebral column, maintaining stability of the joints between the vertebral bodies; it is the only ligament that limits extension; all other ligaments of the vertebral column, like the IV ligaments, limit forms of flexion https://www.kenhub.com/en/library/anatomy/joints-and-ligaments-of-the-vertebral-column local accumulation of fluid, plasma proteins, and leukocytes in the aortic valve 2020-08-31T09:14:02Z aortic semi-lunar valve inflammation aortic semilunar valve inflammation left arterial valve inflammation left semi-lunar valve inflammation left semilunar valve inflammation left ventriculoarterial junction inflammation MPheno.ontology MP:0031124 aortic valve inflammation MP:0031124 local accumulation of fluid, plasma proteins, and leukocytes in the aortic valve https://orcid.org/0000-0002-6490-7723 pneumonia occurring after abnormal entry of material from the oral cavity or upper gastrointestinal tract into the lungs through the larynx; aspirated material can include saliva, nasopharyngeal secretions, bacteria, liquids, toxic substances, food, or gastric contents; can result in pulmonary complications by way of chemical pneumonitis, bacterial infection, or mechanical obstruction 2020-08-31T09:32:28Z MPheno.ontology MP:0031125 aspiration pneumonia MP:0031125 pneumonia occurring after abnormal entry of material from the oral cavity or upper gastrointestinal tract into the lungs through the larynx; aspirated material can include saliva, nasopharyngeal secretions, bacteria, liquids, toxic substances, food, or gastric contents; can result in pulmonary complications by way of chemical pneumonitis, bacterial infection, or mechanical obstruction HP:0011951 PMID:28879323 necrosis or death of soft tissue due to lack of blood flow resulting from injury, infection or other conditions that affect blood circulation 2020-08-31T10:40:52Z gangrenous necrosis MPheno.ontology MP:0031126 gangrene MP:0031126 necrosis or death of soft tissue due to lack of blood flow resulting from injury, infection or other conditions that affect blood circulation HP:0100758 https://my.clevelandclinic.org/health/diseases/21070-gangrene https://www.dictionary.com/browse/gangrene a form of coagulative necrosis that develops in ischemic tissue, where the blood supply is inadequate to keep tissue viable, in the absence of superimposed microbial infection; can be due to peripheral artery disease or acute limb ischemia; the affected body part is dry, shrunken, and dark reddish-black and can fall off (autoamputate) if not removed surgically 2020-08-31T10:58:35Z MPheno.ontology MP:0031127 The term dry is used only when referring to a limb or to the gut; in other locations, this same type of necrosis is called an infarction, such as myocardial infarction dry gangrene MP:0031127 a form of coagulative necrosis that develops in ischemic tissue, where the blood supply is inadequate to keep tissue viable, in the absence of superimposed microbial infection; can be due to peripheral artery disease or acute limb ischemia; the affected body part is dry, shrunken, and dark reddish-black and can fall off (autoamputate) if not removed surgically http://www.pathwaymedicine.org/gangrenous-necrosis https://en.wikipedia.org/wiki/Gangrene#Dry_gangrene The term dry is used only when referring to a limb or to the gut; in other locations, this same type of necrosis is called an infarction, such as myocardial infarction https://en.wikipedia.org/wiki/Gangrene#Dry_gangrene an abnormal communication (shunt) between the right and left sides of the heart or between the systemic and pulmonary vessels, allowing blood to flow directly from one circulatory system to the other; blood can either be shunted from the systemic circulation to pulmonary circulation (i.e. left-to-right shunt) or between the pulmonary circulation and systemic circulation (i.e. right-to-left shunt); rarely, the shunted blood returns to the same cardiac chamber without traversing a capillary bed (i.e. circular shunt); most commonly shunts are the result of congenital heart disease 2020-09-11T06:43:51Z cardiac shunt MPheno.ontology MP:0031128 cardiovascular shunt MP:0031128 an abnormal communication (shunt) between the right and left sides of the heart or between the systemic and pulmonary vessels, allowing blood to flow directly from one circulatory system to the other; blood can either be shunted from the systemic circulation to pulmonary circulation (i.e. left-to-right shunt) or between the pulmonary circulation and systemic circulation (i.e. right-to-left shunt); rarely, the shunted blood returns to the same cardiac chamber without traversing a capillary bed (i.e. circular shunt); most commonly shunts are the result of congenital heart disease https://radiopaedia.org/articles/cardiovascular-shunts a left-to-right shunt allows the oxygenated, pulmonary venous blood to return directly to the lungs rather than being pumped to the body thereby reducing the cardiac output by the amount of the shunted volume; as a result, tissue oxygen delivery is reduced 2020-09-11T06:55:18Z L-R shunt left-to-right shunting MPheno.ontology MP:0031129 left-to-right shunt MP:0031129 a left-to-right shunt allows the oxygenated, pulmonary venous blood to return directly to the lungs rather than being pumped to the body thereby reducing the cardiac output by the amount of the shunted volume; as a result, tissue oxygen delivery is reduced PMID:18299514 a right-to-left shunt allows the deoxygenated, systemic venous return to bypass the lungs and return directly to the systemic arterial circulation; the oxygen content of the systemic arterial blood falls in proportion to the volume of systemic venous blood mixing with the normal pulmonary venous return; with reduced oxygen content, even with normal cardiac output, tissue oxygen delivery falls and the work capacity of muscles is limited 2020-09-11T06:59:53Z R-L shunt right-to-left shunting MPheno.ontology MP:0031130 right-to-left shunt MP:0031130 a right-to-left shunt allows the deoxygenated, systemic venous return to bypass the lungs and return directly to the systemic arterial circulation; the oxygen content of the systemic arterial blood falls in proportion to the volume of systemic venous blood mixing with the normal pulmonary venous return; with reduced oxygen content, even with normal cardiac output, tissue oxygen delivery falls and the work capacity of muscles is limited PMID:18299514 loss of the normal parallel alignment of cardiac myocytes, whereby adjacent myocytes are arranged obliquely or perpendicularly to each other around foci of interstitial collagen (plexiform fibrosis) in a pinwheel or herringbone pattern; disarray is characterized by regions of architectural disorganization of hypertrophied myocytes and distinct nuclear changes 2020-09-11T08:39:34Z myocardial disarray adult cardiomyocyte disarray cardiac myocyte disarray myocardial cell disarray myocardial fibre disarray MPheno.ontology MP:0031131 Myocardial fiber disarray is not specific for hypertrophic cardiomyopathy (HCM); this architectural disorganization of cardiac myocytes has been found, although to a lesser extent, in dilated cardiomyopathy (CM), alcoholic CM, various congenital heart diseases and cardiovascular diseases (systemic hypertension, coronary artery disease and cor pulmonale) and in normal hearts myocardial fiber disarray MP:0031131 loss of the normal parallel alignment of cardiac myocytes, whereby adjacent myocytes are arranged obliquely or perpendicularly to each other around foci of interstitial collagen (plexiform fibrosis) in a pinwheel or herringbone pattern; disarray is characterized by regions of architectural disorganization of hypertrophied myocytes and distinct nuclear changes PMID:15657260 PMID:7890275 https://doi.org/10.15420/ecr.2010.6.2.88 Myocardial fiber disarray is not specific for hypertrophic cardiomyopathy (HCM); this architectural disorganization of cardiac myocytes has been found, although to a lesser extent, in dilated cardiomyopathy (CM), alcoholic CM, various congenital heart diseases and cardiovascular diseases (systemic hypertension, coronary artery disease and cor pulmonale) and in normal hearts https://doi.org/10.15420/ecr.2010.6.2.88 increase in the degree of twisting of one or more arteries 2020-09-11T10:26:58Z increased arterial tortuosity tortuous arteries MPheno.ontology MP:0031132 increased artery tortuosity MP:0031132 increase in the degree of twisting of one or more arteries https://orcid.org/0000-0002-6490-7723 increase in the degree of twisting of the aorta 2020-09-11T10:37:01Z increased aortic tortuosity tortuous aorta MPheno.ontology MP:0031133 increased aorta tortuosity MP:0031133 increase in the degree of twisting of the aorta https://orcid.org/0000-0002-6490-7723 increase in the degree of twisting of the common carotid artery and/or any of its arterial branches 2020-09-11T10:42:40Z tortuous carotid artery MPheno.ontology MP:0031134 increased carotid artery tortuosity MP:0031134 increase in the degree of twisting of the common carotid artery and/or any of its arterial branches https://orcid.org/0000-0002-6490-7723 increase in the degree of twisting of any of the arteries that branch from the ascending aorta to supply blood to the heart 2020-09-11T10:49:32Z tortuous coronary artery MPheno.ontology MP:0031135 increased coronary artery tortuosity MP:0031135 increase in the degree of twisting of any of the arteries that branch from the ascending aorta to supply blood to the heart https://orcid.org/0000-0002-6490-7723 bleeding into one or more muscles 2020-09-11T11:04:37Z intramuscular haemorrhage intramuscular hemorrhage muscle haemorrhage MPheno.ontology MP:0031136 muscle hemorrhage MP:0031136 bleeding into one or more muscles https://orcid.org/0000-0002-6490-7723 bleeding into the vagina 2020-09-11T11:26:37Z vagina haemorrhage vagina hemorrhage vaginal bleeding vaginal haemorrhage MPheno.ontology MP:0031137 vaginal hemorrhage MP:0031137 bleeding into the vagina https://orcid.org/0000-0002-6490-7723 bleeding into one or both testes 2020-09-11T11:41:24Z intratesticular haemorrhage intratesticular hemorrhage testes haemorrhage testes hemorrhage testicular haemorrhage MPheno.ontology MP:0031138 testicular hemorrhage MP:0031138 bleeding into one or both testes https://orcid.org/0000-0002-6490-7723 any structural anomaly of the central retinal artery that branches off the ophthalmic artery, running inferior to the optic nerve within its dural sheath to the eyeball; this artery provides the majority of the retinal arterial supply except for the layer of cones and rods; it splits into multiple terminal branches within the ninth layer of retina, which then comprise a cobweb of retinal arterioles and capillaries that nourishes the inner retinal layers 2020-09-11T12:08:36Z abnormal Zinn artery morphology abnormal central retinal artery morphology abnormal retinal artery morphology MPheno.ontology MP:0031139 abnormal retina artery morphology MP:0031139 any structural anomaly of the central retinal artery that branches off the ophthalmic artery, running inferior to the optic nerve within its dural sheath to the eyeball; this artery provides the majority of the retinal arterial supply except for the layer of cones and rods; it splits into multiple terminal branches within the ninth layer of retina, which then comprise a cobweb of retinal arterioles and capillaries that nourishes the inner retinal layers https://en.wikipedia.org/wiki/Central_retinal_artery https://www.kenhub.com/en/library/anatomy/central-retinal-artery increase in the degree of twisting of the retinal artery 2020-09-11T12:24:29Z increased central retinal artery tortuosity increased retinal arterial tortuosity increased retinal artery tortuosity tortuous retinal arteries MPheno.ontology MP:0031140 increased retina artery tortuosity MP:0031140 increase in the degree of twisting of the retinal artery https://orcid.org/0000-0002-6490-7723 increase in the degree of twisting of any of the retinal blood vessels 2020-09-11T12:30:27Z increased retinal vascular tortuosity tortuous retinal blood vessels MPheno.ontology MP:0031141 increased retina vascular tortuosity MP:0031141 increase in the degree of twisting of any of the retinal blood vessels https://orcid.org/0000-0002-6490-7723 abnormal narrowing or constriction of the retinal artery 2020-09-11T12:44:50Z central retinal artery stenosis constricted retinal artery narrowed retinal artery retinal arterial stenosis retinal artery stenosis MPheno.ontology MP:0031142 retina artery stenosis MP:0031142 abnormal narrowing or constriction of the retinal artery https://orcid.org/0000-0002-6490-7723 blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina 2020-09-11T12:52:44Z blocked retinal artery central retinal artery occlusion retinal arterial occlusion retinal artery occlusion MPheno.ontology MP:0031143 retina artery occlusion MP:0031143 blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina HP:0025326 any structural anomaly of any of the retinal arterioles 2020-09-11T13:35:09Z abnormal retinal arteriole morphology MPheno.ontology MP:0031144 abnormal retina arteriole morphology MP:0031144 any structural anomaly of any of the retinal arterioles https://orcid.org/0000-0002-6490-7723 abnormal narrowing or constriction of any of the retinal arterioles 2020-09-11T13:42:35Z constricted retinal arterioles narrowed retinal arterioles retinal arteriolar stenosis retinal arteriole stenosis MPheno.ontology MP:0031145 retina arteriole stenosis MP:0031145 abnormal narrowing or constriction of any of the retinal arterioles https://orcid.org/0000-0002-6490-7723 blockage of any of the retinal arterioles, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina 2020-09-11T13:51:45Z blocked retinal arterioles retinal arteriolar occlusion retinal arteriole occlusion MPheno.ontology MP:0031146 retina arteriole occlusion MP:0031146 blockage of any of the retinal arterioles, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina HP:0007985 any anomaly in the formation or presence of one or more thrombi in the ventricles of the heart 2020-09-14T08:49:52Z abnormal cardiac ventricular thrombosis abnormal heart ventricle thrombosis abnormal heart ventricular thrombosis MPheno.ontology MP:0031147 abnormal ventricular thrombosis MP:0031147 any anomaly in the formation or presence of one or more thrombi in the ventricles of the heart https://orcid.org/0000-0002-6490-7723 any structural anomaly of the endothelial cells that line the hepatic sinusoids, constituting the sinusoidal wall; these represent the most abundant non-parenchymal hepatic cell population, are characterized by the presence of fenestrae clustered in sieve plates and lacking a basement membrane, play roles in filtration, endocytosis, antigen presentation and leukocyte recruitment, and in combination with Kupffer cells, constitute a scavenger system in the body 2020-09-14T12:51:34Z abnormal HSEC morphology abnormal LSEC morphology abnormal hepatic sinusoidal endothelial cell morphology MPheno.ontology MP:0031148 abnormal liver sinusoidal endothelial cell morphology MP:0031148 any structural anomaly of the endothelial cells that line the hepatic sinusoids, constituting the sinusoidal wall; these represent the most abundant non-parenchymal hepatic cell population, are characterized by the presence of fenestrae clustered in sieve plates and lacking a basement membrane, play roles in filtration, endocytosis, antigen presentation and leukocyte recruitment, and in combination with Kupffer cells, constitute a scavenger system in the body PMID:12437787 PMID:29844586 differences from the expected moribund state caused by thrombus formation following stimulation of thrombosis by an external agent 2020-09-14T13:52:41Z abnormal resistance to thrombosis induced morbidity/mortality abnormal sensitivity to thrombosis induced morbidity/mortality altered susceptibility to thrombosis induced morbidity/mortality MPheno.ontology MP:0031149 This term should be used in conjunction with any mechanical, chemical, physical or infectious agent that induces thrombus formation. abnormal susceptibility to thrombosis induced morbidity/mortality MP:0031149 differences from the expected moribund state caused by thrombus formation following stimulation of thrombosis by an external agent https://orcid.org/0000-0002-6490-7723 reduced likelihood that an organism will display the expected moribund state caused by thrombus formation following stimulation of thrombosis by an external agent 2020-09-14T13:56:17Z decreased sensitivity to thrombosis induced morbidity/mortality increased resistance to thrombosis induced morbidity/mortality MPheno.ontology MP:0031150 This term should be used in conjunction with any mechanical, chemical, physical or infectious agent that induces thrombus formation. decreased susceptibility to thrombosis induced morbidity/mortality MP:0031150 reduced likelihood that an organism will display the expected moribund state caused by thrombus formation following stimulation of thrombosis by an external agent https://orcid.org/0000-0002-6490-7723 increased likelihood that an organism will display the expected moribund state caused by thrombus formation following stimulation of thrombosis by an external agent 2020-09-14T13:59:57Z decreased resistance to thrombosis induced morbidity/mortality increased sensitivity to thrombosis induced morbidity/mortality MPheno.ontology MP:0031151 This term should be used in conjunction with any mechanical, chemical, physical or infectious agent that induces thrombus formation. increased susceptibility to thrombosis induced morbidity/mortality MP:0031151 increased likelihood that an organism will display the expected moribund state caused by thrombus formation following stimulation of thrombosis by an external agent https://orcid.org/0000-0002-6490-7723 bleeding below the skin 2020-09-14T16:04:16Z bleeding underneath the skin subcutaneous bleeding subcutaneous haemorrhage MPheno.ontology MP:0031152 subcutaneous hemorrhage MP:0031152 bleeding below the skin HP:0001933 bleeding into the stomach 2020-09-15T09:24:48Z gastric bleeding gastric haemorrhage gastric hemorrhage stomach bleeding stomach haemorrhage MPheno.ontology MP:0031153 stomach hemorrhage MP:0031153 bleeding into the stomach https://orcid.org/0000-0002-6490-7723 bleeding into any segment of the small intestine and/or the large intestine 2020-09-15T09:30:55Z intestinal bleeding intestinal haemorrhage intestine haemorrhage intestine hemorrhage MPheno.ontology MP:0031154 intestinal hemorrhage MP:0031154 bleeding into any segment of the small intestine and/or the large intestine https://orcid.org/0000-0002-6490-7723 bleeding into any segment of the small intestine 2020-09-15T09:36:14Z small intestinal bleeding small intestinal haemorrhage small intestinal hemorrhage small intestine bleeding small intestine haemorrhage MPheno.ontology MP:0031155 small intestine hemorrhage MP:0031155 bleeding into any segment of the small intestine https://orcid.org/0000-0002-6490-7723 bleeding into any segment the large intestine 2020-09-15T09:41:55Z large intestinal bleeding large intestinal haemorrhage large intestinal hemorrhage large intestine bleeding large intestine haemorrhage MPheno.ontology MP:0031156 large intestine hemorrhage MP:0031156 bleeding into any segment the large intestine https://orcid.org/0000-0002-6490-7723 any anomaly in the formation or presence of thrombi inside one or more arteries, causing the obstruction of blood flow 2020-09-15T10:28:07Z abnormal artery thrombosis blood clot in one or more arteries MPheno.ontology MP:0031157 abnormal arterial thrombosis MP:0031157 any anomaly in the formation or presence of thrombi inside one or more arteries, causing the obstruction of blood flow https://orcid.org/0000-0002-6490-7723 any anomaly in the formation or presence of thrombi inside one or more veins, causing the obstruction of blood flow 2020-09-15T11:23:34Z abnormal vein thrombosis blood clot in one or more veins MPheno.ontology MP:0031158 abnormal venous thrombosis MP:0031158 any anomaly in the formation or presence of thrombi inside one or more veins, causing the obstruction of blood flow https://orcid.org/0000-0002-6490-7723 any anomaly in the formation or presence of thrombi inside the hepatic portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins 2020-09-15T11:26:07Z blood clot in hepatic portal vein MPheno.ontology MP:0031159 abnormal hepatic portal vein thrombosis MP:0031159 any anomaly in the formation or presence of thrombi inside the hepatic portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins https://orcid.org/0000-0002-6490-7723 any anomaly in the formation or presence of thrombi inside any cerebral vein, causing the obstruction of blood flow 2020-09-15T11:30:40Z abnormal cerebral vein thrombosis blood clot in cerebral vein MPheno.ontology MP:0031160 abnormal cerebral venous thrombosis MP:0031160 any anomaly in the formation or presence of thrombi inside any cerebral vein, causing the obstruction of blood flow HP:0005305 https://orcid.org/0000-0002-6490-7723 any anomaly in the formation or presence of thrombi inside any kidney venous blood vessel, causing the obstruction of blood flow 2020-09-15T11:33:53Z blood clot in kidney venous blood vessel MPheno.ontology MP:0031161 abnormal kidney venous thrombosis MP:0031161 any anomaly in the formation or presence of thrombi inside any kidney venous blood vessel, causing the obstruction of blood flow https://orcid.org/0000-0002-6490-7723 any functional anomaly of the fibromuscular tubular tract leading from the uterus to the exterior of the body; it serves as a passageway for cervical mucus, menstrual fluid and other secretions out of the body; during sexual intercourse, it receives the penis and ejaculate, assisting in its transport to the uterus; during the birth process, it expands to provide a channel for delivery of a newborn from the uterus 2020-09-15T14:46:14Z abnormal vaginal physiology MPheno.ontology MP:0031162 abnormal vagina physiology MP:0031162 any functional anomaly of the fibromuscular tubular tract leading from the uterus to the exterior of the body; it serves as a passageway for cervical mucus, menstrual fluid and other secretions out of the body; during sexual intercourse, it receives the penis and ejaculate, assisting in its transport to the uterus; during the birth process, it expands to provide a channel for delivery of a newborn from the uterus https://teachmeanatomy.info/pelvis/female-reproductive-tract/vagina/ https://www.verywellhealth.com/what-is-the-vagina-2616563 any anomaly in the blood level of the large multimeric glycoprotein produced by vascular endothelial cells and megakaryocytes that chaperones blood coagulation cofactor factor VIII and tethers platelets to the injured blood vessel wall 2020-09-21T10:08:42Z abnormal circulating VWF level abnormal circulating vWF level abnormal plasma VWF level abnormal plasma vWF level abnormal plasma von Willebrand factor level MPheno.ontology MP:0031163 abnormal circulating von Willebrand factor level MP:0031163 any anomaly in the blood level of the large multimeric glycoprotein produced by vascular endothelial cells and megakaryocytes that chaperones blood coagulation cofactor factor VIII and tethers platelets to the injured blood vessel wall PMID:29507883 reduced blood level of the large multimeric glycoprotein produced by vascular endothelial cells and megakaryocytes that chaperones blood coagulation cofactor factor VIII and tethers platelets to the injured blood vessel wall 2020-09-21T10:24:39Z reduced circulating VWF level reduced circulating vWF level decreased plasma VWF level decreased plasma vWF level decreased plasma von Willebrand factor level reduced plasma VWF level reduced plasma vWF level reduced plasma von Willebrand factor level MPheno.ontology MP:0031164 decreased circulating von Willebrand factor level MP:0031164 reduced blood level of the large multimeric glycoprotein produced by vascular endothelial cells and megakaryocytes that chaperones blood coagulation cofactor factor VIII and tethers platelets to the injured blood vessel wall PMID:29507883 https://orcid.org/0000-0002-6490-7723 elevated blood level of the large multimeric glycoprotein produced by vascular endothelial cells and megakaryocytes that chaperones blood coagulation cofactor factor VIII and tethers platelets to the injured blood vessel wall 2020-09-21T10:30:09Z increased circulating VWF level increased circulating vWF level increased plasma VWF level increased plasma vWF level increased plasma von Willebrand factor level MPheno.ontology MP:0031165 increased circulating von Willebrand factor level MP:0031165 elevated blood level of the large multimeric glycoprotein produced by vascular endothelial cells and megakaryocytes that chaperones blood coagulation cofactor factor VIII and tethers platelets to the injured blood vessel wall PMID:29507883 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the space or area between each anchored aortic valve leaflet to the aortic wall; the aortic valve is composed of 3 commissures that act as support to the base structure of the cusps 2020-09-23T09:34:29Z MPheno.ontology MP:0031166 abnormal aortic valve commissure morphology MP:0031166 any structural anomaly of the space or area between each anchored aortic valve leaflet to the aortic wall; the aortic valve is composed of 3 commissures that act as support to the base structure of the cusps https://www.cardioserv.net/echo-aortic-valve-anatomy/ any anomaly in the formation or presence of one or more thrombi within the blood vessel network of the lung 2020-09-23T10:00:46Z abnormal pulmonary thrombosis MPheno.ontology MP:0031167 abnormal lung thrombosis MP:0031167 any anomaly in the formation or presence of one or more thrombi within the blood vessel network of the lung https://orcid.org/0000-0002-6490-7723 any anomaly in the formation or presence of one or more thrombi within the blood vessel network of the brain 2020-09-23T10:04:58Z MPheno.ontology MP:0031168 abnormal brain thrombosis MP:0031168 any anomaly in the formation or presence of one or more thrombi within the blood vessel network of the brain https://orcid.org/0000-0002-6490-7723 any functional anomaly of any moveable articulation point of two or more bones 2020-09-23T16:15:20Z MPheno.ontology MP:0031169 abnormal joint physiology MP:0031169 any functional anomaly of any moveable articulation point of two or more bones https://orcid.org/0000-0002-6490-7723 any functional anomaly of any blood and/or lymphatic vessel 2020-09-29T06:44:01Z abnormal vessel physiology MPheno.ontology abnormal vascular physiology MP:0031170 abnormal vasculature physiology MP:0031170 any functional anomaly of any blood and/or lymphatic vessel https://orcid.org/0000-0002-6490-7723 any anomaly in the blood concentration of zinc 2020-10-26T13:29:04Z MPheno.ontology MP:0031171 abnormal circulating zinc level MP:0031171 any anomaly in the blood concentration of zinc https://orcid.org/0000-0002-6490-7723 less than the normal concentration of zinc in the blood 2020-10-26T13:34:43Z reduced circulating zinc level MPheno.ontology MP:0031172 decreased circulating zinc level MP:0031172 less than the normal concentration of zinc in the blood https://orcid.org/0000-0002-6490-7723 greater than the normal concentration of zinc in the blood 2020-10-26T13:38:51Z elevated circulating zinc level MPheno.ontology MP:0031173 increased circulating zinc level MP:0031173 greater than the normal concentration of zinc in the blood https://orcid.org/0000-0002-6490-7723 reduced number of unique club-shaped epithelial structures formed at the tip of the mammary duct at the onset of puberty (approximately 3 weeks of age in mouse) under the action of circulating hormones; normally, TEBs proliferate, ramify, and actively invade the fad pad to allow the formation of a complex branching structure; this process of branching morphogenesis concludes at about 10-12 weeks of age in mouse, when TEBs have traversed the length of the fat pad and a fully developed ductal tree has formed 2020-10-27T08:48:02Z decreased mammary duct TEB number reduced mammary duct TEB number reduced mammary duct terminal end bud number MPheno.ontology MP:0031174 decreased mammary duct terminal end bud number MP:0031174 reduced number of unique club-shaped epithelial structures formed at the tip of the mammary duct at the onset of puberty (approximately 3 weeks of age in mouse) under the action of circulating hormones; normally, TEBs proliferate, ramify, and actively invade the fad pad to allow the formation of a complex branching structure; this process of branching morphogenesis concludes at about 10-12 weeks of age in mouse, when TEBs have traversed the length of the fat pad and a fully developed ductal tree has formed PMID:16280048 PMID:16916375 PMID:18296651 greater number of unique club-shaped epithelial structures formed at the tip of the mammary duct at the onset of puberty (approximately 3 weeks of age in mouse) under the action of circulating hormones; normally, TEBs proliferate, ramify, and actively invade the fad pad to allow the formation of a complex branching structure; this process of branching morphogenesis concludes at about 10-12 weeks of age in mouse, when TEBs have traversed the length of the fat pad and a fully developed ductal tree has formed; increase in TEBs is often associated with increased ductal outgrowth and branching morphogenesis 2020-10-27T08:57:20Z increased mammary duct TEB number MPheno.ontology MP:0031175 increased mammary duct terminal end bud number MP:0031175 greater number of unique club-shaped epithelial structures formed at the tip of the mammary duct at the onset of puberty (approximately 3 weeks of age in mouse) under the action of circulating hormones; normally, TEBs proliferate, ramify, and actively invade the fad pad to allow the formation of a complex branching structure; this process of branching morphogenesis concludes at about 10-12 weeks of age in mouse, when TEBs have traversed the length of the fat pad and a fully developed ductal tree has formed; increase in TEBs is often associated with increased ductal outgrowth and branching morphogenesis PMID:16280048 PMID:16916375 PMID:18296651 anomaly in the thickness of the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea 2020-10-27T11:45:33Z MPheno.ontology MP:0031176 abnormal Descemet membrane thickness MP:0031176 anomaly in the thickness of the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea https://orcid.org/0000-0002-6490-7723 reduced thickness of the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea 2020-10-27T12:07:11Z reduced Descemet membrane thickness thin Descemet membrane thinned Descemet membrane thinning of Descemet membrane MPheno.ontology MP:0031177 decreased Descemet membrane thickness MP:0031177 reduced thickness of the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea https://orcid.org/0000-0002-6490-7723 increased thickness of the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea 2020-10-27T12:11:55Z thick Descemet membrane thickened Descemet membrane thickening of Descemet membrane MPheno.ontology MP:0031178 increased Descemet membrane thickness MP:0031178 increased thickness of the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea https://orcid.org/0000-0002-6490-7723 aberrant rate of blood flow in the blood vessels supplying the brain 2020-10-28T11:50:27Z MPheno.ontology MP:0031179 abnormal brain blood flow rate MP:0031179 aberrant rate of blood flow in the blood vessels supplying the brain https://orcid.org/0000-0002-6490-7723 reduced rate of blood flow in the blood vessels supplying the brain 2020-10-28T11:55:58Z reduced brain blood flow rate MPheno.ontology MP:0031180 decreased brain blood flow rate MP:0031180 reduced rate of blood flow in the blood vessels supplying the brain https://orcid.org/0000-0002-6490-7723 elevated rate of blood flow in the blood vessels supplying the brain 2020-10-28T11:58:29Z elevated brain blood flow rate MPheno.ontology MP:0031181 increased brain blood flow rate MP:0031181 elevated rate of blood flow in the blood vessels supplying the brain https://orcid.org/0000-0002-6490-7723 aberrant rate of blood flow in the blood vessels supplying the cerebral hemispheres 2020-10-28T12:02:30Z MPheno.ontology MP:0031182 abnormal cerebral blood flow rate MP:0031182 aberrant rate of blood flow in the blood vessels supplying the cerebral hemispheres https://orcid.org/0000-0001-5356-4174 reduced rate of blood flow in the blood vessels supplying the cerebral hemispheres 2020-10-28T12:05:59Z reduced cerebral blood flow rate MPheno.ontology MP:0031183 decreased cerebral blood flow rate MP:0031183 reduced rate of blood flow in the blood vessels supplying the cerebral hemispheres PMID:25397684 https://orcid.org/0000-0001-5356-4174 elevated rate of blood flow in the blood vessels supplying the cerebral hemispheres 2020-10-28T12:12:50Z elevated cerebral blood flow rate MPheno.ontology MP:0031184 increased cerebral blood flow rate MP:0031184 elevated rate of blood flow in the blood vessels supplying the cerebral hemispheres https://orcid.org/0000-0001-5356-4174 sudden, unexpected death in an organism displaying seizures resulting from a persistent epileptogenic abnormality of the brain, with or without evidence for a seizure immediately preceding the death, in which there is no evidence of other disease, injury, or drowning that caused the death 2020-10-29T10:09:24Z SUDEP sudden unexplained death in epilepsy MPheno.ontology MP:0031185 SUDEP occurs in both humans and non-humans, including non-human primates (PMID:31592545), dogs (PMID:17708395) and mice (PMID:26272185, PMID:23524966). sudden unexpected death in epilepsy MP:0031185 sudden, unexpected death in an organism displaying seizures resulting from a persistent epileptogenic abnormality of the brain, with or without evidence for a seizure immediately preceding the death, in which there is no evidence of other disease, injury, or drowning that caused the death ORCID:orcid.org/0000-0003-1726-4769 PMID:22191982 any anomaly of the density of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina 2020-10-29T12:15:34Z abnormal horizontal cell density abnormal retinal horizontal cell density MPheno.ontology MP:0031186 abnormal retina horizontal cell density MP:0031186 any anomaly of the density of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina ORCID:orcid.org/0000-0003-3645-6803 PMID:20127257 decrease of the density of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina 2020-10-29T12:27:46Z decreased horizontal cell density decreased retinal horizontal cell density reduced horizontal cell density reduced retina horizontal cell density reduced retinal horizontal cell density MPheno.ontology MP:0031187 decreased retina horizontal cell density MP:0031187 decrease of the density of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina ORCID:orcid.org/0000-0003-3645-6803 PMID:20127257 increase of the density of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina 2020-10-29T12:43:29Z increased horizontal cell density increased retinal horizontal cell density MPheno.ontology MP:0031188 increased retina horizontal cell density MP:0031188 increase of the density of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina ORCID:orcid.org/0000-0003-3645-6803 PMID:20127257 any anomaly of the density of the bipolar cells that function in low light and transmit signals only through amacrine cells 2020-10-29T12:49:54Z abnormal retinal rod bipolar cell density MPheno.ontology MP:0031189 abnormal retina rod bipolar cell density MP:0031189 any anomaly of the density of the bipolar cells that function in low light and transmit signals only through amacrine cells ORCID:orcid.org/0000-0003-3645-6803 PMID:20127257 decrease of the density of the bipolar cells that function in low light and transmit signals only through amacrine cells 2020-10-29T12:54:21Z decreased retinal rod bipolar cell density reduced retina rod bipolar cell density reduced retinal rod bipolar cell density MPheno.ontology MP:0031190 decreased retina rod bipolar cell density MP:0031190 decrease of the density of the bipolar cells that function in low light and transmit signals only through amacrine cells ORCID:orcid.org/0000-0003-3645-6803 PMID:20127257 increase of the density of the bipolar cells that function in low light and transmit signals only through amacrine cells 2020-10-29T12:57:04Z increased retinal rod bipolar cell density MPheno.ontology MP:0031191 increased retina rod bipolar cell density MP:0031191 increase of the density of the bipolar cells that function in low light and transmit signals only through amacrine cells ORCID:orcid.org/0000-0003-3645-6803 PMID:20127257 a multi-factorial, transient, and abrupt reduction of luminal diameter of an epicardial coronary artery due to inappropriate constriction of coronary smooth muscle that can generate distal ischemia 2020-10-29T15:34:07Z coronary artery vasospasm coronary spasm coronary vasospasm MPheno.ontology MP:0031192 coronary artery spasm MP:0031192 a multi-factorial, transient, and abrupt reduction of luminal diameter of an epicardial coronary artery due to inappropriate constriction of coronary smooth muscle that can generate distal ischemia https://www.wikidoc.org/index.php/Coronary_vasospasm increase in mass of the tunica media of the arteries in the pulmonary circulation 2020-10-29T15:54:34Z hypertrophy of the pulmonary artery wall MPheno.ontology MP:0031193 pulmonary arterial medial hypertrophy MP:0031193 increase in mass of the tunica media of the arteries in the pulmonary circulation HP:0004964 PMID:25593290 https://orcid.org/0000-0001-5356-4174 any structural anomaly of either of a paired branch of the abdominal aorta that supplies blood to the testis 2020-10-30T11:42:01Z MPheno.ontology abnormal internal spermatic artery morphology abnormal spermatic artery morphology MP:0031194 abnormal testicular artery morphology MP:0031194 any structural anomaly of either of a paired branch of the abdominal aorta that supplies blood to the testis PMID:11693268 RGD:gthayman https://orcid.org/0000-0002-6490-7723 a decrease in the ratio of vascular wall thickness to luminal diameter in the testicular artery compared to controls 2020-10-30T12:22:01Z decreased testicular artery wall to lumen ratio decreased wall to lumen ratio of testicular artery decreased wall-to-lumen ratio of testicular artery reduced testicular artery wall to lumen ratio reduced testicular artery wall-to-lumen ratio MPheno.ontology MP:0031195 decreased testicular artery wall-to-lumen ratio MP:0031195 a decrease in the ratio of vascular wall thickness to luminal diameter in the testicular artery compared to controls PMID:11693268 RGD:gthayman https://orcid.org/0000-0002-6490-7723 an increase in the ratio of vascular wall thickness to luminal diameter in the testicular artery compared to controls 2020-10-30T12:24:54Z increased testicular artery wall to lumen ratio increased wall to lumen ratio of testicular artery increased wall-to-lumen ratio of testicular artery MPheno.ontology MP:0031196 increased testicular artery wall-to-lumen ratio MP:0031196 an increase in the ratio of vascular wall thickness to luminal diameter in the testicular artery compared to controls PMID:11693268 RGD:gthayman https://orcid.org/0000-0002-6490-7723 pathologic deposition of calcium salts in the testicular artery, a branch of the abdominal aorta that supplies blood to the testis 2020-10-30T13:01:55Z testicular artery calcification MPheno.ontology calcified internal spermatic artery calcified spermatic artery MP:0031197 calcified testicular artery MP:0031197 pathologic deposition of calcium salts in the testicular artery, a branch of the abdominal aorta that supplies blood to the testis PMID:22912827 https://orcid.org/0000-0002-6490-7723 a retrogressive impairment or destruction of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells 2020-10-30T14:07:16Z retinal INL degeneration retinal inner nuclear layer degeneration MPheno.ontology MP:0031198 retina inner nuclear layer degeneration MP:0031198 a retrogressive impairment or destruction of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells https://orcid.org/0000-0002-4154-7358 decrease in the average weight of the aorta 2020-11-02T07:15:41Z decreased aorta weight reduced aorta weight reduced aortic weight MPheno.ontology MP:0031199 decreased aortic weight MP:0031199 decrease in the average weight of the aorta ORCID:orcid.org/0000-0001-5256-8683 increase in the average weight of the aorta 2020-11-02T07:23:59Z increased aorta weight MPheno.ontology MP:0031200 increased aortic weight MP:0031200 increase in the average weight of the aorta ORCID:orcid.org/0000-0001-5256-8683 mild loss of strength in the limb(s) and sometimes face on one side of the body 2020-11-02T16:47:46Z unilateral paresis MPheno.ontology MP:0031201 hemiparesis MP:0031201 mild loss of strength in the limb(s) and sometimes face on one side of the body HP:0001269 https://www.healthline.com/health/hemiparesis-vs-hemiplegia severe or complete loss of muscle function (paralysis) in the limb(s) and in some cases the face on one side of the body 2020-11-02T17:03:20Z paralysis on one side of body MPheno.ontology MP:0031202 hemiplegia MP:0031202 severe or complete loss of muscle function (paralysis) in the limb(s) and in some cases the face on one side of the body HP:0002301 https://www.healthline.com/health/hemiparesis-vs-hemiplegia mild loss of strength in one or both of the forelimbs 2020-11-02T17:19:38Z fore limb paresis fore limb weakness forelimb weakness MPheno.ontology MP:0031203 forelimb paresis MP:0031203 mild loss of strength in one or both of the forelimbs https://orcid.org/0000-0002-6490-7723 mild loss of strength in one or both of the hindlimbs 2020-11-02T17:34:25Z hind limb paresis hind limb weakness hindlimb weakness leg weakness MPheno.ontology lameness MP:0031204 hindlimb paresis MP:0031204 mild loss of strength in one or both of the hindlimbs https://orcid.org/0000-0002-6490-7723 decrease in the amount of phytosterols in the blood; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol 2020-11-03T16:26:28Z decreased circulating phytosterol concentration decreased circulating plant sterol concentration decreased circulating plant sterol level reduced circulating phytosterol level reduced circulating plant sterol level MPheno.ontology MP:0031205 decreased circulating phytosterol level MP:0031205 decrease in the amount of phytosterols in the blood; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol https://orcid.org/0000-0002-6490-7723 abnormally low concentration of lipids in the circulating blood 2020-11-03T16:34:58Z hypolipaemia hypolipemia hypolipidaemia MPheno.ontology MP:0031206 hypolipidemia MP:0031206 abnormally low concentration of lipids in the circulating blood PMID:30991053 reduction in the directed movement of a lymphocyte in response to an external stimulus 2020-11-04T07:53:53Z reduced lymphocyte chemotaxis MPheno.ontology MP:0031207 decreased lymphocyte chemotaxis MP:0031207 reduction in the directed movement of a lymphocyte in response to an external stimulus https://orcid.org/0000-0002-4154-7358 increase in the directed movement of a lymphocyte in response to an external stimulus 2020-11-04T08:08:15Z MPheno.ontology MP:0031208 increased lymphocyte chemotaxis MP:0031208 increase in the directed movement of a lymphocyte in response to an external stimulus https://orcid.org/0000-0002-6490-7723 increase in the average size of the tail of the epididymis 2020-11-04T09:15:24Z increased cauda epididymis size increased caudal epididymis size MPheno.ontology MP:0031209 enlarged cauda epididymis MP:0031209 increase in the average size of the tail of the epididymis PMID:31318116 https://orcid.org/0000-0002-4154-7358 decrease in the average size of the tail of the epididymis 2020-11-04T09:23:05Z decreased cauda epididymis size decreased caudal epididymis size reduced cauda epididymis size reduced caudal epididymis size MPheno.ontology MP:0031210 small cauda epididymis MP:0031210 decrease in the average size of the tail of the epididymis https://orcid.org/0000-0002-4154-7358 decrease in the average size of the body of the epididymis 2020-11-04T09:47:42Z decreased corpus epididymis size reduced corpus epididymis size MPheno.ontology MP:0031211 small corpus epididymis MP:0031211 decrease in the average size of the body of the epididymis https://orcid.org/0000-0002-4154-7358 reduced distance between the iris and the cornea at the center plane (maximum distance) of the eye anterior chamber compared to controls 2020-11-10T08:00:13Z reduced eye anterior chamber depth shallow eye anterior chamber MPheno.ontology MP:0031212 decreased eye anterior chamber depth MP:0031212 reduced distance between the iris and the cornea at the center plane (maximum distance) of the eye anterior chamber compared to controls https://orcid.org/0000-0002-6490-7723 increased distance between the iris and the cornea at the center plane (maximum distance) of the eye anterior chamber compared to controls 2020-11-10T08:05:14Z deep eye anterior chamber MPheno.ontology MP:0031213 increased eye anterior chamber depth MP:0031213 increased distance between the iris and the cornea at the center plane (maximum distance) of the eye anterior chamber compared to controls https://orcid.org/0000-0002-6490-7723 a state or condition marked by an increased tendency to form blood clots within a blood vessel(s) 2020-11-10T09:06:39Z excessive blood clotting excessive blood coagulability hypercoagulability state prothrombotic state thrombophilia MPheno.ontology MP:0031214 hypercoagulability MP:0031214 a state or condition marked by an increased tendency to form blood clots within a blood vessel(s) HP:0100724 https://www.merriam-webster.com/dictionary/hypercoagulability altered response to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of the myocardium 2020-12-09T14:22:55Z abnormal response to myocardial ischaemic injury altered response to myocardial ischaemic injury altered response to myocardial ischemic injury MPheno.ontology MP:0031215 abnormal response to myocardial ischemic injury MP:0031215 altered response to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of the myocardium https://orcid.org/0000-0002-6490-7723 less severe response, such as decreased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of the myocardium compared to controls 2020-12-09T14:28:01Z decreased susceptibility to myocardial ischaemic injury increased resistance to myocardial ischaemic injury increased resistance to myocardial ischemic injury reduced susceptibility to myocardial ischaemic injury reduced susceptibility to myocardial ischemic injury MPheno.ontology MP:0031216 decreased susceptibility to myocardial ischemic injury MP:0031216 less severe response, such as decreased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of the myocardium compared to controls https://orcid.org/0000-0002-6490-7723 more severe response, such as increased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of the myocardium compared to controls 2020-12-09T14:31:59Z decreased resistance to myocardial ischaemic injury decreased resistance to myocardial ischemic injury increased susceptibility to myocardial ischaemic injury reduced resistance to myocardial ischaemic injury reduced resistance to myocardial ischemic injury MPheno.ontology MP:0031217 increased susceptibility to myocardial ischemic injury MP:0031217 more severe response, such as increased incidence and/or size of necrotic tissue, to lack of adequate blood flow resulting from trauma or disease, to support the normal functioning of the myocardium compared to controls https://orcid.org/0000-0002-6490-7723 deviation from the normal blood levels of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3; it is involved in a variety of processes including chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects, and plays an important role during viral infections by stimulating the activation and migration of immune cells to infected sites 2020-12-22T09:42:39Z abnormal circulating C-X-C motif chemokine ligand 10 level abnormal circulating IFN gamma-inducible protein 10 level abnormal circulating IP-10 level abnormal circulating IP10 level abnormal circulating gamma-IP10 level abnormal circulating interferon gamma-induced protein 10 level abnormal circulating small-inducible cytokine B10 level MPheno.ontology MP:0031218 abnormal circulating CXCL10 level MP:0031218 deviation from the normal blood levels of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3; it is involved in a variety of processes including chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects, and plays an important role during viral infections by stimulating the activation and migration of immune cells to infected sites https://www.prospecbio.com/ip-10 https://www.uniprot.org/uniprot/P02778 reduction in the blood levels of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3; this chemokine is involved in a variety of processes including chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects, and plays an important role during viral infections by stimulating the activation and migration of immune cells to infected sites 2020-12-22T10:49:53Z decreased circulating C-X-C motif chemokine ligand 10 level decreased circulating IFN gamma-inducible protein 10 level decreased circulating IP-10 level decreased circulating IP10 level decreased circulating gamma-IP10 level decreased circulating interferon gamma-induced protein 10 level decreased circulating small-inducible cytokine B10 level reduced circulating CXCL10 level MPheno.ontology MP:0031219 decreased circulating CXCL10 level MP:0031219 reduction in the blood levels of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3; this chemokine is involved in a variety of processes including chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects, and plays an important role during viral infections by stimulating the activation and migration of immune cells to infected sites https://www.prospecbio.com/ip-10 https://www.uniprot.org/uniprot/P02778 elevation in the blood levels of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3; this chemokine is involved in a variety of processes including chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects, and plays an important role during viral infections by stimulating the activation and migration of immune cells to infected sites 2020-12-22T11:29:23Z elevated circulating CXCL10 level increased circulating C-X-C motif chemokine ligand 10 level increased circulating IFN gamma-inducible protein 10 level increased circulating IP-10 level increased circulating IP10 level increased circulating gamma-IP10 level increased circulating interferon gamma-induced protein 10 level increased circulating small-inducible cytokine B10 level MPheno.ontology MP:0031220 increased circulating CXCL10 level MP:0031220 elevation in the blood levels of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3; this chemokine is involved in a variety of processes including chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects, and plays an important role during viral infections by stimulating the activation and migration of immune cells to infected sites https://www.prospecbio.com/ip-10 https://www.uniprot.org/uniprot/P02778 anomaly in the production or cellular release of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3 2020-12-22T11:59:05Z abnormal C-X-C motif chemokine ligand 10 secretion abnormal IFN gamma-inducible protein 10 secretion abnormal IP-10 secretion abnormal IP10 secretion abnormal gamma-IP10 secretion abnormal interferon gamma-induced protein 10 secretion abnormal small-inducible cytokine B10 secretion MPheno.ontology MP:0031221 abnormal CXCL10 secretion MP:0031221 anomaly in the production or cellular release of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3 https://www.prospecbio.com/ip-10 https://www.uniprot.org/uniprot/P02778 reduction in the production or cellular release of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3 2020-12-22T12:10:18Z decreased C-X-C motif chemokine ligand 10 secretion decreased IFN gamma-inducible protein 10 secretion decreased IP-10 secretion decreased IP10 secretion decreased gamma-IP10 secretion decreased interferon gamma-induced protein 10 secretion decreased small-inducible cytokine B10 secretion reduced CXCL10 secretion MPheno.ontology MP:0031222 decreased CXCL10 secretion MP:0031222 reduction in the production or cellular release of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3 https://orcid.org/0000-0002-6490-7723 increase in the production or cellular release of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3 2020-12-22T12:22:27Z elevated CXCL10 secretion increased C-X-C motif chemokine ligand 10 secretion increased IFN gamma-inducible protein 10 secretion increased IP-10 secretion increased IP10 secretion increased gamma-IP10 secretion increased interferon gamma-induced protein 10 secretion increased small-inducible cytokine B10 secretion MPheno.ontology MP:0031223 increased CXCL10 secretion MP:0031223 increase in the production or cellular release of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3 https://orcid.org/0000-0002-6490-7723 deviation from the normal levels of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3; it is involved in a variety of processes including chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects, and plays an important role during viral infections by stimulating the activation and migration of immune cells to infected sites 2020-12-22T12:32:14Z abnormal C-X-C motif chemokine ligand 10 level abnormal IFN gamma-inducible protein 10 level abnormal IP-10 level abnormal IP10 level abnormal gamma-IP10 level abnormal interferon gamma-induced protein 10 level abnormal small-inducible cytokine B10 level MPheno.ontology MP:0031224 abnormal CXCL10 level MP:0031224 deviation from the normal levels of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3; it is involved in a variety of processes including chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects, and plays an important role during viral infections by stimulating the activation and migration of immune cells to infected sites https://www.prospecbio.com/ip-10 https://www.uniprot.org/uniprot/P02778 reduction in the amount of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3 2020-12-22T12:40:36Z decreased C-X-C motif chemokine ligand 10 level decreased IFN gamma-inducible protein 10 level decreased IP-10 level decreased IP10 level decreased gamma-IP10 level decreased interferon gamma-induced protein 10 level decreased small-inducible cytokine B10 level reduced CXCL10 level MPheno.ontology MP:0031225 decreased CXCL10 level MP:0031225 reduction in the amount of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3 https://orcid.org/0000-0002-6490-7723 increase in the amount of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3 2020-12-22T12:53:08Z elevated CXCL10 level increased C-X-C motif chemokine ligand 10 level increased IFN gamma-inducible protein 10 level increased IP-10 level increased IP10 level increased gamma-IP10 level increased interferon gamma-induced protein 10 level increased small-inducible cytokine B10 level MPheno.ontology MP:0031226 increased CXCL10 level MP:0031226 increase in the amount of CXCL10 protein, a pro-inflammatory cytokine that is secreted by a wide range of cell types in response to interferon-gamma, and produces its effects by binding to the cell surface chemokine receptor CXCR3 https://orcid.org/0000-0002-6490-7723 any anomaly in the concentration of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone 2020-12-22T13:37:32Z MPheno.ontology MP:0031227 abnormal angiotensin II level MP:0031227 any anomaly in the concentration of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone https://medical-dictionary.thefreedictionary.com/angiotensin+II https://www.uniprot.org/uniprot/P01019 reduced concentration of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone 2020-12-22T13:45:02Z reduced angiotensin II level MPheno.ontology MP:0031228 decreased angiotensin II level MP:0031228 reduced concentration of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone https://medical-dictionary.thefreedictionary.com/angiotensin+II https://orcid.org/0000-0002-6490-7723 https://www.uniprot.org/uniprot/P01019 increased concentration of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone 2020-12-22T13:54:19Z elevated angiotensin II level MPheno.ontology MP:0031229 increased angiotensin II level MP:0031229 increased concentration of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone https://medical-dictionary.thefreedictionary.com/angiotensin+II https://orcid.org/0000-0002-6490-7723 https://www.uniprot.org/uniprot/P01019 aberrant concentration in the blood of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone 2020-12-22T13:58:23Z abnormal plasma angiotensin II level abnormal serum angiotensin II level MPheno.ontology MP:0031230 abnormal circulating angiotensin II level MP:0031230 aberrant concentration in the blood of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone https://medical-dictionary.thefreedictionary.com/angiotensin+II https://orcid.org/0000-0002-6490-7723 https://www.uniprot.org/uniprot/P01019 reduced concentration in the blood of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone 2020-12-22T14:07:10Z reduced circulating angiotensin II level decreased plasma angiotensin II level decreased serum angiotensin II level reduced plasma angiotensin II level reduced serum angiotensin II level MPheno.ontology MP:0031231 decreased circulating angiotensin II level MP:0031231 reduced concentration in the blood of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone https://medical-dictionary.thefreedictionary.com/angiotensin+II https://orcid.org/0000-0002-6490-7723 https://www.uniprot.org/uniprot/P01019 increased concentration in the blood of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone 2020-12-22T14:16:01Z elevated circulating angiotensin II level increased plasma angiotensin II level increased serum angiotensin II level MPheno.ontology MP:0031232 increased circulating angiotensin II level MP:0031232 increased concentration in the blood of angiotensin II, a vasoactive octapeptide produced by the action of angiotensin-converting enzyme on angiotensin I; it acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone https://medical-dictionary.thefreedictionary.com/angiotensin+II https://orcid.org/0000-0002-6490-7723 https://www.uniprot.org/uniprot/P01019 reduced levels in the blood of an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis 2020-12-23T10:41:30Z decreased SAA protein level decreased Serum Amyloid A Protein level reduced SAA protein level reduced Serum Amyloid A Protein level reduced circulating serum amyloid protein level MPheno.ontology MP:0031233 decreased circulating serum amyloid protein level MP:0031233 reduced levels in the blood of an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis https://orcid.org/0000-0002-6490-7723 elevated levels in the blood of an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis 2020-12-23T10:53:02Z elevated SAA protein level elevated Serum Amyloid A Protein level elevated circulating serum amyloid protein level increased SAA protein level increased Serum Amyloid A Protein level MPheno.ontology MP:0031234 increased circulating serum amyloid protein level MP:0031234 elevated levels in the blood of an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis https://orcid.org/0000-0002-6490-7723 reduction in the weight of the large sac at the ileum and large intestine junction 2021-03-08T08:22:27Z decreased caecum weight reduced caecum weight reduced cecum weight MPheno.ontology MP:0031235 decreased cecum weight MP:0031235 reduction in the weight of the large sac at the ileum and large intestine junction https://orcid.org/0000-0002-6490-7723 increase in the weight of the large sac at the ileum and large intestine junction 2021-03-08T08:28:07Z increased caecum weight MPheno.ontology MP:0031236 increased cecum weight MP:0031236 increase in the weight of the large sac at the ileum and large intestine junction https://orcid.org/0000-0002-6490-7723 a common histological injury pattern of the lung, whereby the early stages are characterized by epithelial cell necrosis and sloughing, fibrous exudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli and resulting in impaired gas exchange; in later stages, alveolar type II cells and myofibroblasts proliferate within the interstitium and airspaces; the corresponding clinical entity is ARDS (acute respiratory distress syndrome) 2021-03-08T10:36:03Z MPheno.ontology MP:0031237 diffuse alveolar damage MP:0031237 a common histological injury pattern of the lung, whereby the early stages are characterized by epithelial cell necrosis and sloughing, fibrous exudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli and resulting in impaired gas exchange; in later stages, alveolar type II cells and myofibroblasts proliferate within the interstitium and airspaces; the corresponding clinical entity is ARDS (acute respiratory distress syndrome) HP:0033006 PMID:28570160 alteration to type II pneumocytes following lung injury that results in increased numbers of these cells occurring in clusters and having morphological alterations including: cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin 2021-03-08T12:21:37Z reactive alveolar type II cell hyperplasia MPheno.ontology MP:0031238 reactive type II pneumocyte hyperplasia develops as a response to alveolar injury in various pulmonary disorders, esp. in the setting of inflammation and interstitial fibrosis and during the healing phase of diffuse alveolar damage reactive type II pneumocyte hyperplasia MP:0031238 alteration to type II pneumocytes following lung injury that results in increased numbers of these cells occurring in clusters and having morphological alterations including: cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin PMID:11079017 increase in the number of degenerated immature ovarian follicles 2021-03-29T08:00:01Z elevated atretic ovarian follicle number MPheno.ontology MP:0031239 increased atretic ovarian follicle number MP:0031239 increase in the number of degenerated immature ovarian follicles http://medcell.med.yale.edu/histology/female_reproductive_system_lab/atretic_follicle.php https://www.sciencedirect.com/topics/medicine-and-dentistry/ovary-follicle-atresia deviation from the normal levels of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways 2021-03-29T10:18:21Z abnormal G-CSF level abnormal GCSF level abnormal colony stimulating factor 3 (granulocyte) level abnormal colony stimulating factor 3 level abnormal colony-stimulating factor 3 level abnormal granulocyte colony stimulating factor level abnormal granulocyte colony-stimulating factor level MPheno.ontology MP:0031240 abnormal CSF3 level MP:0031240 deviation from the normal levels of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways ISBN:978-0-12-802225-2 https://en.wikipedia.org/wiki/Granulocyte_colony-stimulating_factor reduction in the amount of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways 2021-03-29T10:30:40Z decreased G-CSF level decreased GCSF level decreased colony stimulating factor 3 (granulocyte) level decreased colony stimulating factor 3 level decreased colony-stimulating factor 3 level decreased granulocyte colony stimulating factor level decreased granulocyte colony-stimulating factor level reduced G-CSF level reduced GCSF level reduced colony stimulating factor 3 (granulocyte) level reduced colony stimulating factor 3 level reduced colony-stimulating factor 3 level reduced granulocyte colony stimulating factor level reduced granulocyte colony-stimulating factor level MPheno.ontology MP:0031241 decreased CSF3 level MP:0031241 reduction in the amount of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways ISBN:978-0-12-802225-2 https://en.wikipedia.org/wiki/Granulocyte_colony-stimulating_factor increase in the amount of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways 2021-03-29T10:42:19Z increased G-CSF level increased GCSF level increased colony stimulating factor 3 (granulocyte) level increased colony stimulating factor 3 level increased colony-stimulating factor 3 level increased granulocyte colony stimulating factor level increased granulocyte colony-stimulating factor level MPheno.ontology MP:0031242 increased CSF3 level MP:0031242 increase in the amount of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways ISBN:978-0-12-802225-2 https://en.wikipedia.org/wiki/Granulocyte_colony-stimulating_factor deviation from the normal blood levels of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways 2021-03-29T10:48:41Z abnormal circulating G-CSF level abnormal circulating GCSF level abnormal circulating colony stimulating factor 3 (granulocyte) level abnormal circulating colony stimulating factor 3 level abnormal circulating colony-stimulating factor 3 level abnormal circulating granulocyte colony stimulating factor level abnormal circulating granulocyte colony-stimulating factor level MPheno.ontology MP:0031243 abnormal circulating CSF3 level MP:0031243 deviation from the normal blood levels of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways ISBN:978-0-12-802225-2 https://en.wikipedia.org/wiki/Granulocyte_colony-stimulating_factor reduction in the blood levels of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways 2021-03-29T10:56:54Z decreased circulating G-CSF level decreased circulating GCSF level decreased circulating colony stimulating factor 3 (granulocyte) level decreased circulating colony stimulating factor 3 level decreased circulating colony-stimulating factor 3 level decreased circulating granulocyte colony stimulating factor level decreased circulating granulocyte colony-stimulating factor level reduced circulating G-CSF level reduced circulating GCSF level reduced circulating colony stimulating factor 3 (granulocyte) level reduced circulating colony stimulating factor 3 level reduced circulating colony-stimulating factor 3 level reduced circulating granulocyte colony stimulating factor level reduced circulating granulocyte colony-stimulating factor level MPheno.ontology MP:0031244 decreased circulating CSF3 level MP:0031244 reduction in the blood levels of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways ISBN:978-0-12-802225-2 https://en.wikipedia.org/wiki/Granulocyte_colony-stimulating_factor increase in the blood levels of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways 2021-03-29T11:07:13Z increased circulating G-CSF level increased circulating GCSF level increased circulating colony stimulating factor 3 (granulocyte) level increased circulating colony stimulating factor 3 level increased circulating colony-stimulating factor 3 level increased circulating granulocyte colony stimulating factor level increased circulating granulocyte colony-stimulating factor level MPheno.ontology MP:0031245 increased circulating CSF3 level MP:0031245 increase in the blood levels of CSF3, a cytokine glycoprotein produced by endothelium, macrophages and other immune cells that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream; it also stimulates the survival, proliferation, differentiation, and function of neutrophil precursors and mature neutrophils via signal transduction pathways ISBN:978-0-12-802225-2 https://en.wikipedia.org/wiki/Granulocyte_colony-stimulating_factor deviation from the normal levels of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation 2021-03-29T11:54:53Z abnormal C-C motif chemokine 3 level abnormal MIP-1 alpha level abnormal MIP-1alpha level abnormal MIP1-alpha level abnormal MIP1A level abnormal macrophage inflammatory protein 1-alpha level MPheno.ontology MP:0031246 abnormal CCL3 level MP:0031246 deviation from the normal levels of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation https://link.springer.com/referenceworkentry/10.1007%2F978-94-007-7696-8_27 reduction in the amount of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation 2021-03-29T12:03:23Z decreased C-C motif chemokine 3 level decreased MIP-1 alpha level decreased MIP-1alpha level decreased MIP1-alpha level decreased MIP1A level decreased macrophage inflammatory protein 1-alpha level reduced C-C motif chemokine 3 level reduced MIP-1 alpha level reduced MIP-1alpha level reduced MIP1-alpha level reduced MIP1A level reduced macrophage inflammatory protein 1-alpha level MPheno.ontology MP:0031247 decreased CCL3 level MP:0031247 reduction in the amount of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation https://link.springer.com/referenceworkentry/10.1007%2F978-94-007-7696-8_27 increase in the amount of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation 2021-03-29T12:10:19Z increased C-C motif chemokine 3 level increased MIP-1 alpha level increased MIP-1alpha level increased MIP1-alpha level increased MIP1A level increased macrophage inflammatory protein 1-alpha level MPheno.ontology MP:0031248 increased CCL3 level MP:0031248 increase in the amount of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation https://link.springer.com/referenceworkentry/10.1007%2F978-94-007-7696-8_27 deviation from the normal blood levels of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation 2021-03-29T12:14:52Z abnormal circulating C-C motif chemokine 3 level abnormal circulating MIP-1 alpha level abnormal circulating MIP-1alpha level abnormal circulating MIP1-alpha level abnormal circulating MIP1A level abnormal circulating macrophage inflammatory protein 1-alpha level MPheno.ontology MP:0031249 abnormal circulating CCL3 level MP:0031249 deviation from the normal blood levels of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation https://link.springer.com/referenceworkentry/10.1007%2F978-94-007-7696-8_27 reduction in the blood levels of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation 2021-03-29T12:23:34Z decreased circulating C-C motif chemokine 3 level decreased circulating MIP-1 alpha level decreased circulating MIP-1alpha level decreased circulating MIP1-alpha level decreased circulating MIP1A level decreased circulating macrophage inflammatory protein 1-alpha level reduced circulating C-C motif chemokine 3 level reduced circulating MIP-1 alpha level reduced circulating MIP-1alpha level reduced circulating MIP1-alpha level reduced circulating MIP1A level reduced circulating macrophage inflammatory protein 1-alpha level MPheno.ontology MP:0031250 decreased circulating CCL3 level MP:0031250 reduction in the blood levels of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation https://link.springer.com/referenceworkentry/10.1007%2F978-94-007-7696-8_27 increase in the blood levels of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation 2021-03-29T12:31:21Z increased circulating C-C motif chemokine 3 level increased circulating MIP-1 alpha level increased circulating MIP-1alpha level increased circulating MIP1-alpha level increased circulating MIP1A level increased circulating macrophage inflammatory protein 1-alpha level MPheno.ontology MP:0031251 increased circulating CCL3 level MP:0031251 increase in the blood levels of CCL3 protein, a chemokine that is secreted by a variety of hematopoietic and non-hematopoietic cells upon stimulation and plays a key role in recruiting inflammatory cells (macrophages, lymphocytes, eosinophils and basophils) to sites of injury or inflammation via the CCR1 or CCR5 receptor; it helps promote wound healing by recruiting macrophages to sites of tissue injury; acts as a potent osteoclast activator and induces bone resorption; exerts HIV-suppressive activity; and inhibits hematopoietic stem cell proliferation https://link.springer.com/referenceworkentry/10.1007%2F978-94-007-7696-8_27 any anomaly in the expected physiological response of a cell or an organism to reduced tissue levels of oxygen resulting from either internal or external changes in oxygen levels 2021-03-29T13:08:50Z abnormal physiological response to hypoxic stress MPheno.ontology MP:0031252 This term is not to be used for behavioral responses to hypoxia. abnormal physiological response to hypoxia MP:0031252 any anomaly in the expected physiological response of a cell or an organism to reduced tissue levels of oxygen resulting from either internal or external changes in oxygen levels https://orcid.org/0000-0002-6490-7723 a combination of kyphosis and lordosis 2021-04-12T10:49:35Z kypholordosis MPheno.ontology MP:0031253 lordokyphosis MP:0031253 a combination of kyphosis and lordosis https://en.wiktionary.org/wiki/lordokyphosis any concentration below the normal range of L-ascorbic acid (vitamin C), which is a common co-factor and has anti-oxidant activities in many species 2021-04-12T17:50:46Z decreased L-ascorbic acid level decreased ascorbate level decreased ascorbic acid level reduced L-ascorbic acid level reduced ascorbate level reduced ascorbic acid level reduced vitamin C level MPheno.ontology MP:0031254 decreased vitamin C level MP:0031254 any concentration below the normal range of L-ascorbic acid (vitamin C), which is a common co-factor and has anti-oxidant activities in many species GO:0019852 any concentration above the normal range of L-ascorbic acid (vitamin C), which is a common co-factor and has anti-oxidant activities in many species 2021-04-12T18:03:25Z increased L-ascorbic acid level increased ascorbate level increased ascorbic acid level MPheno.ontology MP:0031255 increased vitamin C level MP:0031255 any concentration above the normal range of L-ascorbic acid (vitamin C), which is a common co-factor and has anti-oxidant activities in many species GO:0019852 any anomaly in the concentration of L-ascorbic acid (vitamin C) in the blood 2021-04-12T18:08:19Z abnormal circulating L-ascorbic acid level abnormal circulating ascorbate level abnormal circulating ascorbic acid level abnormal plasma L-ascorbic acid level abnormal plasma ascorbate level abnormal plasma ascorbic acid level abnormal plasma vitamin C level abnormal serum L-ascorbic acid level abnormal serum ascorbate level abnormal serum ascorbic acid level abnormal serum vitamin C level MPheno.ontology MP:0031256 abnormal circulating vitamin C level MP:0031256 any anomaly in the concentration of L-ascorbic acid (vitamin C) in the blood https://orcid.org/0000-0002-6490-7723 reduced concentration of L-ascorbic acid (vitamin C) in the blood 2021-04-12T18:15:43Z decreased circulating L-ascorbic acid level decreased circulating ascorbate level decreased circulating ascorbic acid level reduced circulating L-ascorbic acid level reduced circulating ascorbate level reduced circulating ascorbic acid level reduced circulating vitamin C level decreased plasma L-ascorbic acid level decreased plasma ascorbate level decreased plasma ascorbic acid level decreased plasma vitamin C level decreased serum L-ascorbic acid level decreased serum ascorbate level decreased serum ascorbic acid level decreased serum vitamin C level MPheno.ontology MP:0031257 decreased circulating vitamin C level MP:0031257 reduced concentration of L-ascorbic acid (vitamin C) in the blood https://orcid.org/0000-0002-6490-7723 increased concentration of L-ascorbic acid (vitamin C) in the blood 2021-04-12T18:22:46Z increased circulating L-ascorbic acid level increased circulating ascorbate level increased circulating ascorbic acid level increased plasma L-ascorbic acid level increased plasma ascorbate level increased plasma ascorbic acid level increased plasma vitamin C level increased serum L-ascorbic acid level increased serum ascorbate level increased serum ascorbic acid level increased serum vitamin C level MPheno.ontology MP:0031258 increased circulating vitamin C level MP:0031258 increased concentration of L-ascorbic acid (vitamin C) in the blood https://orcid.org/0000-0002-6490-7723 any anomaly in the concentration of L-ascorbic acid (vitamin C) in the liver 2021-04-12T18:29:30Z abnormal hepatic L-ascorbic acid level abnormal hepatic ascorbate level abnormal hepatic ascorbic acid level abnormal hepatic vitamin C level abnormal liver L-ascorbic acid level abnormal liver ascorbate level abnormal liver ascorbic acid level MPheno.ontology MP:0031259 abnormal liver vitamin C level MP:0031259 any anomaly in the concentration of L-ascorbic acid (vitamin C) in the liver https://orcid.org/0000-0002-6490-7723 reduced concentration of L-ascorbic acid (vitamin C) in the liver 2021-04-12T18:35:42Z decreased hepatic L-ascorbic acid level decreased hepatic ascorbate level decreased hepatic ascorbic acid level decreased hepatic vitamin C level decreased liver L-ascorbic acid level decreased liver ascorbate level decreased liver ascorbic acid level reduced hepatic L-ascorbic acid level reduced hepatic ascorbate level reduced hepatic ascorbic acid level reduced hepatic vitamin C level reduced liver L-ascorbic acid level reduced liver ascorbate level reduced liver ascorbic acid level reduced liver vitamin C level MPheno.ontology MP:0031260 decreased liver vitamin C level MP:0031260 reduced concentration of L-ascorbic acid (vitamin C) in the liver https://orcid.org/0000-0002-6490-7723 increased concentration of L-ascorbic acid (vitamin C) in the liver 2021-04-12T18:41:38Z increased hepatic L-ascorbic acid level increased hepatic ascorbate level increased hepatic ascorbic acid level increased hepatic vitamin C level increased liver L-ascorbic acid level increased liver ascorbate level increased liver ascorbic acid level MPheno.ontology MP:0031261 increased liver vitamin C level MP:0031261 increased concentration of L-ascorbic acid (vitamin C) in the liver https://orcid.org/0000-0002-6490-7723 any anomaly in the concentration of any of the forms of vitamin K, quinone-derived vitamins which are involved in the synthesis of blood-clotting factors in mammals; vitamin K substances share a methylated naphthoquinone ring structure and vary in the aliphatic side chains attached to the molecule 2021-04-26T08:25:04Z MPheno.ontology MP:0031262 abnormal vitamin K level MP:0031262 any anomaly in the concentration of any of the forms of vitamin K, quinone-derived vitamins which are involved in the synthesis of blood-clotting factors in mammals; vitamin K substances share a methylated naphthoquinone ring structure and vary in the aliphatic side chains attached to the molecule GO:0042373 reduced concentration of any of the forms of vitamin K, quinone-derived vitamins which are involved in the synthesis of blood-clotting factors in mammals 2021-04-26T08:31:52Z low vitamin K level reduced vitamin K level MPheno.ontology MP:0031263 decreased vitamin K level MP:0031263 reduced concentration of any of the forms of vitamin K, quinone-derived vitamins which are involved in the synthesis of blood-clotting factors in mammals GO:0042373 increased concentration of any of the forms of vitamin K, quinone-derived vitamins which are involved in the synthesis of blood-clotting factors in mammals 2021-04-26T08:34:48Z elevated vitamin K level MPheno.ontology MP:0031264 increased vitamin K level MP:0031264 increased concentration of any of the forms of vitamin K, quinone-derived vitamins which are involved in the synthesis of blood-clotting factors in mammals GO:0042373 more likely than normal to develop hepatic steatosis 2021-05-10T10:25:09Z decreased resistance to fatty liver development decreased resistance to hepatic steatosis increased susceptibility to fatty liver development reduced resistance to fatty liver development reduced resistance to hepatic steatosis MPheno.ontology MP:0031265 increased susceptibility to hepatic steatosis MP:0031265 more likely than normal to develop hepatic steatosis https://orcid.org/0000-0002-6490-7723 less likely than normal to develop hepatic steatosis following acute or chronic alcohol administration 2021-05-10T10:29:59Z decreased susceptibility to alcohol-induced fatty liver development decreased susceptibility to ethanol-induced fatty liver development decreased susceptibility to ethanol-induced hepatic steatosis increased resistance to alcohol-induced hepatic steatosis increased resistance to ethanol-induced hepatic steatosis reduced susceptibility to alcohol-induced hepatic steatosis reduced susceptibility to ethanol-induced hepatic steatosis MPheno.ontology MP:0031266 decreased susceptibility to alcohol-induced hepatic steatosis MP:0031266 less likely than normal to develop hepatic steatosis following acute or chronic alcohol administration https://orcid.org/0000-0002-6490-7723 more likely than normal to develop hepatic steatosis following acute or chronic alcohol administration 2021-05-10T10:33:28Z decreased resistance to alcohol-induced hepatic steatosis decreased resistance to ethanol-induced hepatic steatosis increased susceptibility to alcohol-induced fatty liver development increased susceptibility to ethanol-induced fatty liver development increased susceptibility to ethanol-induced hepatic steatosis reduced resistance to alcohol-induced hepatic steatosis reduced resistance to ethanol-induced hepatic steatosis MPheno.ontology MP:0031267 increased susceptibility to alcohol-induced hepatic steatosis MP:0031267 more likely than normal to develop hepatic steatosis following acute or chronic alcohol administration https://orcid.org/0000-0002-6490-7723 less likely than normal to develop diet-induced hepatic steatosis 2021-05-10T10:37:49Z decreased susceptibility to diet-induced fatty liver development increased resistance to diet-induced hepatic steatosis reduced susceptibility to diet-induced hepatic steatosis MPheno.ontology MP:0031268 decreased susceptibility to diet-induced hepatic steatosis MP:0031268 less likely than normal to develop diet-induced hepatic steatosis https://orcid.org/0000-0002-6490-7723 more likely than normal to develop diet-induced hepatic steatosis 2021-05-10T10:41:15Z decreased resistance to diet-induced hepatic steatosis increased susceptibility to diet-induced fatty liver development reduced resistance to diet-induced hepatic steatosis MPheno.ontology MP:0031269 increased susceptibility to diet-induced hepatic steatosis MP:0031269 more likely than normal to develop diet-induced hepatic steatosis https://orcid.org/0000-0002-6490-7723 less likely than normal to develop hepatic steatosis that is progressive with age 2021-05-10T10:44:40Z decreased susceptibility to age-related fatty liver development increased resistance to age-related hepatic steatosis reduced susceptibility to age-related hepatic steatosis MPheno.ontology MP:0031270 decreased susceptibility to age-related hepatic steatosis MP:0031270 less likely than normal to develop hepatic steatosis that is progressive with age https://orcid.org/0000-0002-6490-7723 more likely than normal to develop hepatic steatosis that is progressive with age 2021-05-10T10:47:45Z decreased resistance to age-related hepatic steatosis increased susceptibility to age-related fatty liver development reduced resistance to age-related hepatic steatosis MPheno.ontology MP:0031271 increased susceptibility to age-related hepatic steatosis MP:0031271 more likely than normal to develop hepatic steatosis that is progressive with age https://orcid.org/0000-0002-6490-7723 any anomaly in the frequency, rate or severity of aneurysm formation following experimental induction of heart or vessel wall weakening by chemical and/or physical means 2021-05-10T15:49:22Z altered susceptibility to induced aneurysm formation MPheno.ontology altered resistance to induced aneurysm formation MP:0031272 abnormal susceptibility to induced aneurysm formation MP:0031272 any anomaly in the frequency, rate or severity of aneurysm formation following experimental induction of heart or vessel wall weakening by chemical and/or physical means https://orcid.org/0000-0002-6490-7723 decreased frequency, rate or severity of aneurysm formation following experimental induction of heart or vessel wall weakening by chemical and/or physical means 2021-05-10T15:53:43Z increased resistance to induced aneurysm formation reduced susceptibility to induced aneurysm formation MPheno.ontology MP:0031273 decreased susceptibility to induced aneurysm formation MP:0031273 decreased frequency, rate or severity of aneurysm formation following experimental induction of heart or vessel wall weakening by chemical and/or physical means https://orcid.org/0000-0002-6490-7723 increased frequency, rate or severity of aneurysm formation following experimental induction of heart or vessel wall weakening by chemical and/or physical means 2021-05-10T15:58:50Z decreased resistance to induced aneurysm formation reduced resistance to induced aneurysm formation MPheno.ontology MP:0031274 increased susceptibility to induced aneurysm formation MP:0031274 increased frequency, rate or severity of aneurysm formation following experimental induction of heart or vessel wall weakening by chemical and/or physical means https://orcid.org/0000-0002-6490-7723 any anomaly in the chemical reactions and pathways involving heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring 2021-06-07T10:52:10Z abnormal heme metabolic process MPheno.ontology MP:0031275 abnormal heme metabolism MP:0031275 any anomaly in the chemical reactions and pathways involving heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring GO:0042168 any anomaly in the process by which erythroid output is increased in response to anemic stress 2021-06-07T11:11:39Z abnormal stress-induced erythropoiesis MPheno.ontology MP:0031276 abnormal stress erythropoiesis MP:0031276 any anomaly in the process by which erythroid output is increased in response to anemic stress PMID:32750404 a congenital deformity of the anterior chest wall characterized by outward protrusion of the sternum and/or adjacent ribs 2021-06-11T09:57:35Z keel chest pigeon chest MPheno.ontology pigeon breast pyramidal chest sternal kyphosis thorax cuneiform MP:0031277 pectus carinatum MP:0031277 a congenital deformity of the anterior chest wall characterized by outward protrusion of the sternum and/or adjacent ribs PMID:23868604 PMID:29325984 https://www.uptodate.com/contents/pectus-carinatum less than the expected number of a malignant neoplasm derived form mesenchymal stem cells, osteoblasts or osteocytes, occurring in a specific population in a given time period; osteosarcoma is a highly invasive and destructive tumor rising in the skeleton with osteoid and immature woven bone 2021-06-30T07:29:26Z MPheno.ontology decreased osteogenic sarcoma incidence MP:0031278 decreased osteosarcoma incidence MP:0031278 less than the expected number of a malignant neoplasm derived form mesenchymal stem cells, osteoblasts or osteocytes, occurring in a specific population in a given time period; osteosarcoma is a highly invasive and destructive tumor rising in the skeleton with osteoid and immature woven bone MPATH:397 differences from the expected moribund state caused by aneurysm rupture following experimental induction of heart or vessel wall weakening by chemical and/or physical means 2021-06-30T08:51:19Z abnormal sensitivity to aneurysm induced morbidity/mortality altered susceptibility to aneurysm induced morbidity/mortality MPheno.ontology altered resistance to aneurysm induced morbidity/mortality MP:0031279 abnormal susceptibility to aneurysm induced morbidity/mortality MP:0031279 differences from the expected moribund state caused by aneurysm rupture following experimental induction of heart or vessel wall weakening by chemical and/or physical means https://orcid.org/0000-0002-6490-7723 reduced likelihood that an organism will display the expected moribund state caused by aneurysm rupture following experimental induction of heart or vessel wall weakening by chemical and/or physical means 2021-06-30T08:56:21Z decreased sensitivity to aneurysm induced morbidity/mortality increased resistance to aneurysm induced morbidity/mortality reduced susceptibility to aneurysm induced morbidity/mortality MPheno.ontology MP:0031280 decreased susceptibility to aneurysm induced morbidity/mortality MP:0031280 reduced likelihood that an organism will display the expected moribund state caused by aneurysm rupture following experimental induction of heart or vessel wall weakening by chemical and/or physical means https://orcid.org/0000-0002-6490-7723 increased likelihood that an organism will display the expected moribund state caused by aneurysm rupture following experimental induction of heart or vessel wall weakening by chemical and/or physical means 2021-06-30T09:00:11Z decreased resistance to aneurysm induced morbidity/mortality increased sensitivity to aneurysm induced morbidity/mortality reduced resistance to aneurysm induced morbidity/mortality MPheno.ontology MP:0031281 increased susceptibility to aneurysm induced morbidity/mortality MP:0031281 increased likelihood that an organism will display the expected moribund state caused by aneurysm rupture following experimental induction of heart or vessel wall weakening by chemical and/or physical means https://orcid.org/0000-0002-6490-7723 less than the expected number of benign lobulated neoplasms of hyaline cartilage occurring in bones of endochondral origin, in a specific population in a given time period; enchondromas are usually solitary, intramedullary lesions commonly found in the short tubular bones of the hands and feet, distal femur, and proximal humerus 2021-06-30T15:54:48Z reduced enchondroma incidence MPheno.ontology MP:0031282 decreased enchondroma incidence MP:0031282 less than the expected number of benign lobulated neoplasms of hyaline cartilage occurring in bones of endochondral origin, in a specific population in a given time period; enchondromas are usually solitary, intramedullary lesions commonly found in the short tubular bones of the hands and feet, distal femur, and proximal humerus https://www.ncbi.nlm.nih.gov/books/NBK536938/ greater than the expected number of benign lobulated neoplasms of hyaline cartilage occurring in bones of endochondral origin, in a specific population in a given time period; enchondromas are usually solitary, intramedullary lesions commonly found in the short tubular bones of the hands and feet, distal femur, and proximal humerus 2021-06-30T16:04:55Z MPheno.ontology enchondroma MP:0031283 increased enchondroma incidence MP:0031283 greater than the expected number of benign lobulated neoplasms of hyaline cartilage occurring in bones of endochondral origin, in a specific population in a given time period; enchondromas are usually solitary, intramedullary lesions commonly found in the short tubular bones of the hands and feet, distal femur, and proximal humerus https://www.ncbi.nlm.nih.gov/books/NBK536938/ an abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs 2021-07-01T08:54:30Z MPheno.ontology MP:0031284 abdominal situs abnormality MP:0031284 an abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs HP:0011620 abnormal narrowing or constriction of the external auditory canal 2021-07-26T08:26:22Z external acoustic meatus stenosis narrow external auditory canal narrowing of external auditory canal stenosis of external auditory canal stenotic external acoustic meatus stenotic external auditory canal MPheno.ontology MP:0031285 external auditory canal stenosis MP:0031285 abnormal narrowing or constriction of the external auditory canal https://orcid.org/0000-0002-6490-7723 failure of one of the testes to descend into the scrotum 2021-07-26T10:58:08Z unilateral cryptorchidism MPheno.ontology MP:0031286 unilateral cryptorchism MP:0031286 failure of one of the testes to descend into the scrotum https://orcid.org/0000-0002-6490-7723 failure of both testes to descend into the scrotum 2021-07-26T11:02:30Z bilateral cryptorchidism MPheno.ontology MP:0031287 bilateral cryptorchism MP:0031287 failure of both testes to descend into the scrotum https://orcid.org/0000-0002-6490-7723 increased length of any of the hairs that grow at the edge of the upper or lower eyelid 2021-09-20T06:51:06Z increased eyelash length increased eyelid cilia length increased eyelid cilium length increased lash length long eyelashes MPheno.ontology MP:0031288 long eyelid cilia MP:0031288 increased length of any of the hairs that grow at the edge of the upper or lower eyelid https://orcid.org/0000-0002-6490-7723 reduced average size of one eye; generally refers to a congenital defect 2021-09-20T08:58:44Z unilateral microphthalmos MPheno.ontology MP:0031289 unilateral microphthalmia MP:0031289 reduced average size of one eye; generally refers to a congenital defect https://orcid.org/0000-0002-6490-7723 reduced average size of both eyes; generally refers to a congenital defect 2021-09-20T09:02:48Z bilateral microphthalmos MPheno.ontology MP:0031290 bilateral microphthalmia MP:0031290 reduced average size of both eyes; generally refers to a congenital defect https://orcid.org/0000-0002-6490-7723 an outward deviation of the foot at the talocalcaneal or subtalar joint 2021-09-20T09:46:05Z valgus foot deformity MPheno.ontology MP:0031291 pes valgus MP:0031291 an outward deviation of the foot at the talocalcaneal or subtalar joint HP:0008081 https://www.biologyonline.com/dictionary/pes-valgus greater than the expected number of benign tumors characterized by blood-filled spaces lined by benign endothelial cells in the face, occurring in a specific population in a given time period 2021-09-21T09:16:55Z increased facial haemangioma incidence MPheno.ontology facial angioma facial haemangioma facial hemangioma increased facial angiomoma incidence MP:0031292 increased facial hemangioma incidence MP:0031292 greater than the expected number of benign tumors characterized by blood-filled spaces lined by benign endothelial cells in the face, occurring in a specific population in a given time period https://orcid.org/0000-0002-6490-7723 less than the expected number of benign tumors characterized by blood-filled spaces lined by benign endothelial cells in the face, occurring in a specific population in a given time period 2021-09-21T09:29:16Z decreased facial haemangioma incidence MPheno.ontology decreased facial angiomoma incidence MP:0031293 decreased facial hemangioma incidence MP:0031293 less than the expected number of benign tumors characterized by blood-filled spaces lined by benign endothelial cells in the face, occurring in a specific population in a given time period https://orcid.org/0000-0002-6490-7723 a form of male hypospadia where the opening of the male urethra is located on the inferior aspect of the penis 2021-09-21T11:27:25Z MPheno.ontology MP:0031294 penile hypospadia MP:0031294 a form of male hypospadia where the opening of the male urethra is located on the inferior aspect of the penis HP:0003244 the mildest and most common form of male hypospadias where the opening of the male urethra is located on the head of the penis, but not at the tip 2021-09-21T11:33:19Z MPheno.ontology glandular hypospadia MP:0031295 Also referred to as glandular hypospadia. glanular hypospadia MP:0031295 the mildest and most common form of male hypospadias where the opening of the male urethra is located on the head of the penis, but not at the tip https://nyulangone.org/conditions/hypospadias-in-children/types a severe form of male hypospadia where the opening of the male urethra is located where the shaft of the penis meets the scrotum 2021-09-21T11:36:54Z MPheno.ontology MP:0031296 penoscrotal hypospadia MP:0031296 a severe form of male hypospadia where the opening of the male urethra is located where the shaft of the penis meets the scrotum HP:0000808 a form of male hypospadia where the opening of the male urethra is located in the middle of the inferior shaft of the penis 2021-09-21T11:39:22Z MPheno.ontology MP:0031297 midshaft hypospadia MP:0031297 a form of male hypospadia where the opening of the male urethra is located in the middle of the inferior shaft of the penis HP:0012854 https://nyulangone.org/conditions/hypospadias-in-children/types a form of male hypospadia where the opening of the male urethra is located at the corona glandis 2021-09-21T11:43:07Z MPheno.ontology MP:0031298 coronal hypospadia MP:0031298 a form of male hypospadia where the opening of the male urethra is located at the corona glandis https://www.statpearls.com/ArticleLibrary/viewarticle/26901 a form of male hypospadia where the opening of the male urethra is located at the junction of the corona and the body of the penis 2021-09-21T11:45:07Z MPheno.ontology MP:0031299 subcoronal hypospadia MP:0031299 a form of male hypospadia where the opening of the male urethra is located at the junction of the corona and the body of the penis https://www.dynamed.com/condition/hypospadias https://www.statpearls.com/ArticleLibrary/viewarticle/26901 a form of male hypospadia where the scrotum is abnormally divided (bifid) and the male urethral opening is located in the perineal region along the center of the divided sac 2021-09-21T11:48:12Z MPheno.ontology MP:0031300 perineal hypospadia MP:0031300 a form of male hypospadia where the scrotum is abnormally divided (bifid) and the male urethral opening is located in the perineal region along the center of the divided sac https://nyulangone.org/conditions/hypospadias-in-children/types persistent inflammatory response in the liver, often caused by persistent infection or during an autoimmune response 2021-09-27T08:31:36Z chronic hepatic inflammation chronic hepatitis MPheno.ontology MP:0031301 chronic liver inflammation MP:0031301 persistent inflammatory response in the liver, often caused by persistent infection or during an autoimmune response https://orcid.org/0000-0002-6490-7723 a transient loss of consciousness due to cerebral hypoperfusion with spontaneous return to baseline function without intervention 2021-09-27T09:16:42Z fainting fainting spell MPheno.ontology MP:0031302 syncope MP:0031302 a transient loss of consciousness due to cerebral hypoperfusion with spontaneous return to baseline function without intervention PMID:27752576 increased sensitivity to methamphetamine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response 2021-10-04T11:22:00Z enhanced behavioural response to methamphetamine MPheno.ontology MP:0031303 enhanced behavioral response to methamphetamine MP:0031303 increased sensitivity to methamphetamine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0002-6490-7723 decreased sensitivity to methamphetamine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response 2021-10-04T11:26:03Z attenuated behavioral response to methamphetamine attenuated behavioural response to methamphetamine impaired behavioural response to methamphetamine MPheno.ontology MP:0031304 impaired behavioral response to methamphetamine MP:0031304 decreased sensitivity to methamphetamine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response https://orcid.org/0000-0002-6490-7723 a rudimentary tag of skin, that may also contain cartilage or fat, located in front of the auricle (outer part of the ear) 2021-10-12T06:44:32Z skin tag in front of the ear preauricular skin tags preauricular tag preauricular tags MPheno.ontology MP:0031305 preauricular skin tag MP:0031305 a rudimentary tag of skin, that may also contain cartilage or fat, located in front of the auricle (outer part of the ear) HP:0000384 https://www.biologyonline.com/dictionary/preauricular https://www.chop.edu/conditions-diseases/ear-tags any functional anomaly of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life 2021-10-12T08:00:59Z abnormal cartilage tissue physiology MPheno.ontology MP:0031306 abnormal cartilage physiology MP:0031306 any functional anomaly of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 a condition characterized by flaccidity of the bronchial support cartilage 2021-10-12T08:15:30Z MPheno.ontology MP:0031307 bronchomalacia MP:0031307 a condition characterized by flaccidity of the bronchial support cartilage HP:0002780 https://orcid.org/0000-0002-6490-7723 a condition characterized by flaccidity of the tracheal and bronchial support cartilage 2021-10-12T08:33:28Z MPheno.ontology MP:0031308 tracheobronchomalacia MP:0031308 a condition characterized by flaccidity of the tracheal and bronchial support cartilage HP:0002786 https://orcid.org/0000-0002-6490-7723 presence of one or more abnormal membranous sacs in any portion of the skin 2021-10-12T09:47:29Z cutaneous cyst cutaneous cysts cystic skin skin cysts MPheno.ontology MP:0031309 skin cyst MP:0031309 presence of one or more abnormal membranous sacs in any portion of the skin https://orcid.org/0000-0002-6490-7723 presence of one or more abnormal membranous sacs in one or more organs or tissues of the body 2021-10-12T10:55:13Z cysts MPheno.ontology MP:0031310 abnormal cyst MP:0031310 presence of one or more abnormal membranous sacs in one or more organs or tissues of the body https://orcid.org/0000-0002-6490-7723 a bony defect or stress fracture within the pars interarticularis of the vertebral arch in the spinal column; pars interarticularis is the part of a vertebra located between the inferior and superior articular processes of the facet joint 2021-10-25T08:50:19Z MPheno.ontology MP:0031312 spondylolysis MP:0031312 a bony defect or stress fracture within the pars interarticularis of the vertebral arch in the spinal column; pars interarticularis is the part of a vertebra located between the inferior and superior articular processes of the facet joint https://en.wikipedia.org/wiki/Spondylolysis https://www.spine-health.com/glossary/spondylolysis a condition of the spine whereby one of the vertebra slips forward or backward in relation to the next vertebra; forward slippage of an upper vertebra on a lower vertebra is referred to as anterolisthesis, while backward slippage is referred to as retrolisthesis 2021-10-25T09:40:22Z spondylolistheses anterolisthesis retrolisthesis MPheno.ontology MP:0031313 Spondylolisthesis can lead to a deformity of the spine as well as a narrowing of the spinal canal (central spinal stenosis) or compression of the exiting nerve roots (foraminal stenosis). Spondylolisthesis is most common in the low back (lumbar spine) but can also occur in the mid to upper back (thoracic spine) and neck (cervical spine). spondylolisthesis MP:0031313 a condition of the spine whereby one of the vertebra slips forward or backward in relation to the next vertebra; forward slippage of an upper vertebra on a lower vertebra is referred to as anterolisthesis, while backward slippage is referred to as retrolisthesis https://en.wikipedia.org/wiki/Spondylolisthesis https://www.medicinenet.com/spondylolisthesis/article.htm reduced strength of one or more of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) 2021-10-25T10:24:25Z decreased facial muscle strength reduced facial muscle strength weak facial muscle weak facial muscles MPheno.ontology MP:0031314 facial muscle weakness MP:0031314 reduced strength of one or more of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) https://orcid.org/0000-0002-6490-7723 one or more bile ducts inside or outside the liver are abnormally narrow, blocked, or absent 2021-10-25T16:16:01Z biliary duct atresia MPheno.ontology MP:0031315 biliary atresia MP:0031315 one or more bile ducts inside or outside the liver are abnormally narrow, blocked, or absent https://en.wikipedia.org/wiki/Biliary_atresia https://medlineplus.gov/ency/article/001145.htm globular projection of the anterior or posterior surface of the lens 2021-10-25T16:28:48Z globoid shaped lens MPheno.ontology MP:0031316 Lentiglobus refers to a globular projection of the anterior or posterior surface of the lens, whereas lenticonus refers to a conical projection of the anterior or posterior surface of the lens. lentiglobus MP:0031316 globular projection of the anterior or posterior surface of the lens https://www.ufrgs.br/imunovet/molecular_immunology/senseorgans.html globoid shaped lens https://veterinaryophthalmicconsulting.com/pages/microphakia a developmental defect in which a smaller, more spherical optic lens than normal is formed, with partial or complete aplasia of the zonule 2021-10-25T16:41:42Z MPheno.ontology MP:0031317 spherophakia MP:0031317 a developmental defect in which a smaller, more spherical optic lens than normal is formed, with partial or complete aplasia of the zonule https://www.ufrgs.br/imunovet/molecular_immunology/senseorgans.html#spherophakia increase in the renewal, repair, and/or regrowth of skeletal muscle tissue following injury or disease 2021-11-01T17:11:28Z improved skeletal muscle regeneration increased skeletal muscle regeneration MPheno.ontology MP:0031318 enhanced skeletal muscle regeneration MP:0031318 increase in the renewal, repair, and/or regrowth of skeletal muscle tissue following injury or disease https://orcid.org/0000-0002-6490-7723 decrease in the renewal, repair, and/or regrowth of intestinal tissue following injury or disease 2021-11-01T18:15:11Z decreased intestinal regeneration decreased intestine regeneration impaired intestinal regeneration reduced intestinal regeneration reduced intestine regeneration MPheno.ontology MP:0031319 impaired intestine regeneration MP:0031319 decrease in the renewal, repair, and/or regrowth of intestinal tissue following injury or disease https://orcid.org/0000-0002-6490-7723 increase in the renewal, repair, and/or regrowth of intestinal tissue following injury or disease 2021-11-01T18:19:35Z enhanced intestinal regeneration improved intestinal regeneration improved intestine regeneration increased intestinal regeneration increased intestine regeneration MPheno.ontology MP:0031320 enhanced intestine regeneration MP:0031320 increase in the renewal, repair, and/or regrowth of intestinal tissue following injury or disease https://orcid.org/0000-0002-6490-7723 increase in the renewal, repair, and/or regrowth of cardiac muscle tissue following injury or disease 2021-11-01T18:44:49Z enhanced heart muscle regeneration improved cardiac muscle regeneration improved heart muscle regeneration increased cardiac muscle regeneration increased heart muscle regeneration MPheno.ontology MP:0031321 enhanced cardiac muscle regeneration MP:0031321 increase in the renewal, repair, and/or regrowth of cardiac muscle tissue following injury or disease https://orcid.org/0000-0002-6490-7723 reduction in the expansion rate of a skeletal muscle satellite cell population by cell division 2021-11-15T10:23:31Z reduced skeletal muscle satellite cell proliferation MPheno.ontology MP:0031322 decreased skeletal muscle satellite cell proliferation MP:0031322 reduction in the expansion rate of a skeletal muscle satellite cell population by cell division https://orcid.org/0000-0002-6490-7723 increase in the expansion rate of a skeletal muscle satellite cell population by cell division 2021-11-15T10:36:41Z MPheno.ontology MP:0031323 increased skeletal muscle satellite cell proliferation MP:0031323 increase in the expansion rate of a skeletal muscle satellite cell population by cell division https://orcid.org/0000-0002-6490-7723 late onset of the renewal, repair, and/or regrowth of liver tissue following injury or disease 2021-11-15T11:38:22Z delayed hepatic regeneration MPheno.ontology MP:0031324 delayed liver regeneration MP:0031324 late onset of the renewal, repair, and/or regrowth of liver tissue following injury or disease https://orcid.org/0000-0002-6490-7723 late onset of the renewal, repair, and/or regrowth of pancreatic tissue following injury or disease 2021-11-15T11:45:50Z delayed pancreatic regeneration MPheno.ontology MP:0031325 delayed pancreas regeneration MP:0031325 late onset of the renewal, repair, and/or regrowth of pancreatic tissue following injury or disease https://orcid.org/0000-0002-6490-7723 late onset of the renewal, repair, and/or regrowth of muscle tissue following injury or disease 2021-11-15T12:04:05Z MPheno.ontology MP:0031326 delayed muscle regeneration MP:0031326 late onset of the renewal, repair, and/or regrowth of muscle tissue following injury or disease https://orcid.org/0000-0002-6490-7723 late onset of the renewal, repair, and/or regrowth of cardiac muscle tissue following injury or disease 2021-11-15T12:08:54Z delayed heart muscle regeneration MPheno.ontology MP:0031327 delayed cardiac muscle regeneration MP:0031327 late onset of the renewal, repair, and/or regrowth of cardiac muscle tissue following injury or disease https://orcid.org/0000-0002-6490-7723 late onset of the renewal, repair, and/or regrowth of skeletal muscle tissue following injury or disease 2021-11-15T12:16:35Z MPheno.ontology MP:0031328 delayed skeletal muscle regeneration MP:0031328 late onset of the renewal, repair, and/or regrowth of skeletal muscle tissue following injury or disease https://orcid.org/0000-0002-6490-7723 late onset of the renewal, repair, and/or regrowth of central nervous system tissue following injury or disease 2021-11-15T12:51:40Z delayed CNS regeneration MPheno.ontology MP:0031329 delayed central nervous system regeneration MP:0031329 late onset of the renewal, repair, and/or regrowth of central nervous system tissue following injury or disease https://orcid.org/0000-0002-6490-7723 late onset of the renewal, repair, and/or regrowth of peripheral nervous system tissue following injury or disease 2021-11-15T12:56:40Z delayed PNS regeneration MPheno.ontology MP:0031330 delayed peripheral nervous system regeneration MP:0031330 late onset of the renewal, repair, and/or regrowth of peripheral nervous system tissue following injury or disease https://orcid.org/0000-0002-6490-7723 late onset of the renewal, repair, and/or regrowth of intestinal tissue following injury or disease 2021-11-15T13:01:56Z delayed intestinal regeneration MPheno.ontology MP:0031331 delayed intestine regeneration MP:0031331 late onset of the renewal, repair, and/or regrowth of intestinal tissue following injury or disease https://orcid.org/0000-0002-6490-7723 anomaly in the size (height or maximum displacement) or shape of the evoked inhibitory postsynaptic current wave 2021-11-15T14:06:56Z abnormal inhibitory post-synaptic current amplitude MPheno.ontology MP:0031332 abnormal inhibitory postsynaptic current amplitude MP:0031332 anomaly in the size (height or maximum displacement) or shape of the evoked inhibitory postsynaptic current wave https://orcid.org/0000-0002-4154-7358 reduction in the size (height or maximum displacement) of the evoked inhibitory postsynaptic current wave 2021-11-15T14:14:40Z decreased inhibitory post-synaptic current amplitude reduced inhibitory post-synaptic current amplitude reduced inhibitory postsynaptic current amplitude MPheno.ontology MP:0031333 decreased inhibitory postsynaptic current amplitude MP:0031333 reduction in the size (height or maximum displacement) of the evoked inhibitory postsynaptic current wave https://orcid.org/0000-0002-4154-7358 increase in the size (height or maximum displacement) of the evoked inhibitory postsynaptic current wave 2021-11-15T14:19:46Z increased inhibitory post-synaptic current amplitude MPheno.ontology MP:0031334 increased inhibitory postsynaptic current amplitude MP:0031334 increase in the size (height or maximum displacement) of the evoked inhibitory postsynaptic current wave https://orcid.org/0000-0002-4154-7358 any anomaly in the progression of an epithelium of the uterus over time from its initial formation to the mature structure 2021-12-13T11:16:54Z abnormal uterine epithelial development abnormal uterus epithelial development abnormal uterus epithelium development MPheno.ontology MP:0031336 abnormal uterine epithelium development MP:0031336 any anomaly in the progression of an epithelium of the uterus over time from its initial formation to the mature structure GO:0035847 https://orcid.org/0000-0002-6490-7723 any anomaly in the amount of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores 2021-12-13T12:37:03Z abnormal LCN2 level abnormal NGAL level abnormal neutrophil gelatinase-associated lipocalin level MPheno.ontology MP:0031337 abnormal lipocalin 2 level MP:0031337 any anomaly in the amount of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores https://en.wikipedia.org/wiki/Lipocalin-2 https://orcid.org/0000-0002-6490-7723 reduction in the amount of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores 2021-12-13T12:43:26Z decreased LCN2 level decreased NGAL level decreased neutrophil gelatinase-associated lipocalin level reduced LCN2 level reduced NGAL level reduced lipocalin 2 level reduced neutrophil gelatinase-associated lipocalin level MPheno.ontology MP:0031338 decreased lipocalin 2 level MP:0031338 reduction in the amount of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores https://en.wikipedia.org/wiki/Lipocalin-2 https://orcid.org/0000-0002-6490-7723 increase in the amount of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores 2021-12-13T13:03:45Z elevated LCN2 level elevated lipocalin 2 level increased LCN2 level increased NGAL level increased neutrophil gelatinase-associated lipocalin level MPheno.ontology MP:0031339 increased lipocalin 2 level MP:0031339 increase in the amount of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores https://en.wikipedia.org/wiki/Lipocalin-2 https://orcid.org/0000-0002-6490-7723 any anomaly in the amount in the blood of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores 2021-12-13T13:15:24Z abnormal circulating LCN2 level abnormal circulating NGAL level abnormal circulating neutrophil gelatinase-associated lipocalin level abnormal plasma lipocalin 2 level abnormal serum lipocalin 2 level MPheno.ontology MP:0031340 abnormal circulating lipocalin 2 level MP:0031340 any anomaly in the amount in the blood of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores https://en.wikipedia.org/wiki/Lipocalin-2 https://orcid.org/0000-0002-6490-7723 reduction in the amount in the blood of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores 2021-12-13T13:19:48Z decreased circulating LCN2 level decreased circulating NGAL level decreased circulating neutrophil gelatinase-associated lipocalin level reduced circulating LCN2 level reduced circulating NGAL level reduced circulating lipocalin 2 level reduced circulating neutrophil gelatinase-associated lipocalin level decreased plasma lipocalin 2 level decreased serum lipocalin 2 level reduced plasma lipocalin 2 level reduced serum lipocalin 2 level MPheno.ontology MP:0031341 decreased circulating lipocalin 2 level MP:0031341 reduction in the amount in the blood of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores https://en.wikipedia.org/wiki/Lipocalin-2 https://orcid.org/0000-0002-6490-7723 increase in the amount in the blood of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores 2021-12-13T13:26:05Z elevated circulating LCN2 level elevated circulating lipocalin 2 level increased circulating LCN2 level increased circulating NGAL level increased circulating neutrophil gelatinase-associated lipocalin level increased plasma lipocalin 2 level increased serum lipocalin 2 level MPheno.ontology MP:0031342 increased circulating lipocalin 2 level MP:0031342 increase in the amount in the blood of lipocalin 2, a protein that plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores https://en.wikipedia.org/wiki/Lipocalin-2 https://orcid.org/0000-0002-6490-7723 congenital blockage or absence of the lumen of the colon 2021-12-20T14:28:05Z colonic atresia MPheno.ontology MP:0031343 colon atresia MP:0031343 congenital blockage or absence of the lumen of the colon https://orcid.org/0000-0002-6490-7723 a protruding sac formed by the dilation of the wall of the aortic bulb resulting from a weakening of the vessel wall 2022-01-31T14:13:21Z aortic root aneurysm MPheno.ontology MP:0031344 aortic bulb aneurysm MP:0031344 a protruding sac formed by the dilation of the wall of the aortic bulb resulting from a weakening of the vessel wall https://orcid.org/0000-0002-6490-7723 a lens opacity that is present before or at birth 2022-02-01T08:33:38Z congenital cataract congenital cataracts developmental cataracts MPheno.ontology MP:0031345 developmental cataract MP:0031345 a lens opacity that is present before or at birth https://orcid.org/0000-0002-6490-7723 any anomaly of the structure or arrangement of blood vessels supplying the eye 2022-02-01T09:08:53Z abnormal eye blood vessel morphology abnormal ocular blood vessel morphology abnormal ocular vasculature morphology MPheno.ontology MP:0031346 abnormal eye vasculature morphology MP:0031346 any anomaly of the structure or arrangement of blood vessels supplying the eye https://orcid.org/0000-0002-6490-7723 a condition where the white part of the eye (sclera) appears reddened or bloodshot, ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera 2022-02-01T09:42:52Z red eyes MPheno.ontology MP:0031347 This term should be used for vascular related redness, not the red eyes seen in albinism. red eye MP:0031347 a condition where the white part of the eye (sclera) appears reddened or bloodshot, ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera HP:0025337 https://medlineplus.gov/ency/article/003031.htm normal bone and marrow is replaced with scar-like (fibrous) connective tissue, resulting in formation of bone that is weak and prone to expansion 2022-02-01T10:29:40Z fibrous dysplasia of bone MPheno.ontology MP:0031348 bone fibrous dysplasia MP:0031348 normal bone and marrow is replaced with scar-like (fibrous) connective tissue, resulting in formation of bone that is weak and prone to expansion https://en.wikipedia.org/wiki/Fibrous_dysplasia_of_bone https://rarediseases.org/rare-diseases/fibrous-dysplasia/ a form of fibrous dysplasia affecting one solitary bone 2022-02-01T10:34:23Z MPheno.ontology MP:0031349 monostotic fibrous dysplasia MP:0031349 a form of fibrous dysplasia affecting one solitary bone https://rarediseases.org/rare-diseases/fibrous-dysplasia/ a form of fibrous dysplasia affecting multiple bones throughout the body 2022-02-01T10:37:26Z MPheno.ontology MP:0031350 polyostotic fibrous dysplasia MP:0031350 a form of fibrous dysplasia affecting multiple bones throughout the body https://rarediseases.org/rare-diseases/fibrous-dysplasia/ any anomaly in the distance across the short axis of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility 2022-02-07T12:41:30Z MPheno.ontology MP:0031351 abnormal sperm flagellum thickness MP:0031351 any anomaly in the distance across the short axis of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility https://orcid.org/0000-0002-6490-7723 missing the central pair of microtubules in the sperm axoneme, thereby forming a 9 + 0 pattern instead of the normal 9 + 2 pattern 2022-02-07T14:18:52Z absent sperm axonemal microtubule central pair absent sperm axoneme central pair MPheno.ontology MP:0031352 absent sperm axonemal central pair MP:0031352 missing the central pair of microtubules in the sperm axoneme, thereby forming a 9 + 0 pattern instead of the normal 9 + 2 pattern https://orcid.org/0000-0002-6490-7723 change in the timing or the number of cells in testicular tissue undergoing programmed cell death 2022-02-07T14:45:18Z abnormal testicular apoptosis MPheno.ontology MP:0031353 abnormal testis apoptosis MP:0031353 change in the timing or the number of cells in testicular tissue undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 any anomaly in the formation of the acrosome from the spermatid Golgi 2022-02-14T10:06:48Z abnormal acrosome formation MPheno.ontology abnormal acrosome biogenesis MP:0031354 abnormal acrosome assembly MP:0031354 any anomaly in the formation of the acrosome from the spermatid Golgi GO:0001675 https://orcid.org/0000-0002-6490-7723 any anomaly in the fusion of the membrane of a proacrosomal vesicle with the membrane of another proacrosomal vesicle to form a single large acrosomal granule at the nuclear surface 2022-02-14T10:58:55Z MPheno.ontology MP:0031355 abnormal proacrosomal vesicle fusion MP:0031355 any anomaly in the fusion of the membrane of a proacrosomal vesicle with the membrane of another proacrosomal vesicle to form a single large acrosomal granule at the nuclear surface GO:0120211 PMID:31620437 any structural anomaly of the highly condensed, modified intermediate cytoskeletal filaments strengthened by disulfide linked keratin proteins that progress from the midpiece to the principal piece of the sperm tail; outer dense fibers are believed to maintain flagellar elasticity and play a role in the protection of the sperm tail against shear forces during epididymal transport and ejaculation 2022-02-14T12:57:48Z abnormal ODF morphology abnormal outer dense fibre morphology MPheno.ontology MP:0031356 In the mammalian sperm tail, each ODF, which is numbered from 1 to 9 according to differences in cross-sectional shape and size, connects with one microtubular doublet of the axoneme resulting in a 9 + 9 + 2 cross-sectional pattern. In the principal piece, the fibrous sheath replaces ODFs 3 and 8, and the sizes of other ODFs progressively decrease distally. The shapes, sizes and lengths of ODFs are quite distinct in different species. abnormal outer dense fiber morphology MP:0031356 any structural anomaly of the highly condensed, modified intermediate cytoskeletal filaments strengthened by disulfide linked keratin proteins that progress from the midpiece to the principal piece of the sperm tail; outer dense fibers are believed to maintain flagellar elasticity and play a role in the protection of the sperm tail against shear forces during epididymal transport and ejaculation PMID:29168316 https://royalsocietypublishing.org/doi/10.1098/rsif.2018.0668 In the mammalian sperm tail, each ODF, which is numbered from 1 to 9 according to differences in cross-sectional shape and size, connects with one microtubular doublet of the axoneme resulting in a 9 + 9 + 2 cross-sectional pattern. In the principal piece, the fibrous sheath replaces ODFs 3 and 8, and the sizes of other ODFs progressively decrease distally. The shapes, sizes and lengths of ODFs are quite distinct in different species. PMID:29168316 increased size of the rodent prostate lobe that is located below the ventral aspect of the bladder neck 2022-02-14T15:42:27Z enlarged ventral prostate gland increased prostate gland ventral lobe size large VP large ventral prostate gland MPheno.ontology MP:0031357 enlarged prostate gland ventral lobe MP:0031357 increased size of the rodent prostate lobe that is located below the ventral aspect of the bladder neck https://orcid.org/0000-0002-6490-7723 a reduction in the volume of urine produced and excreted or the absence of urine production and excretion 2022-02-14T17:39:37Z decreased urine volume reduced urine output reduced urine volume MPheno.ontology MP:0031358 decreased urine output MP:0031358 a reduction in the volume of urine produced and excreted or the absence of urine production and excretion https://orcid.org/0000-0002-6490-7723 reduction in the average weight of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles 2022-02-15T09:52:55Z decreased AP weight decreased CG weight decreased anterior prostate lobe weight decreased anterior prostate weight decreased coagulating gland weight reduced AP weight reduced CG weight reduced anterior prostate lobe weight reduced anterior prostate weight reduced coagulating gland weight reduced prostate gland anterior lobe weight MPheno.ontology MP:0031359 decreased prostate gland anterior lobe weight MP:0031359 reduction in the average weight of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the prostate gland anterior lobe, typically resulting in decreased size 2022-02-15T10:08:41Z AP hypoplasia CG hypoplasia anterior prostate hypoplasia coagulating gland hypoplasia hypoplastic anterior prostate lobe hypoplastic coagulating gland hypoplastic prostate gland anterior lobe MPheno.ontology MP:0031360 prostate gland anterior lobe hypoplasia MP:0031360 decrease in the number of normal cells in normal arrangement in the prostate gland anterior lobe, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increase in the average weight of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles 2022-02-15T10:18:48Z increased AP weight increased CG weight increased anterior prostate lobe weight increased coagulating gland weight MPheno.ontology MP:0031361 increased prostate gland anterior lobe weight MP:0031361 increase in the average weight of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles https://orcid.org/0000-0002-6490-7723 reduction in the average weight of the rodent prostate lobe that is located below the ventral aspect of the bladder neck 2022-02-15T10:27:34Z decreased VP weight decreased ventral prostate lobe weight reduced VP weight reduced prostate gland ventral lobe weight reduced ventral prostate lobe weight MPheno.ontology MP:0031362 decreased prostate gland ventral lobe weight MP:0031362 reduction in the average weight of the rodent prostate lobe that is located below the ventral aspect of the bladder neck https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the prostate gland ventral lobe, typically resulting in decreased size 2022-02-15T10:33:44Z VP hypoplasia hypoplastic prostate gland ventral lobe hypoplastic ventral prostate lobe ventral prostate hypoplasia MPheno.ontology MP:0031363 prostate gland ventral lobe hypoplasia MP:0031363 decrease in the number of normal cells in normal arrangement in the prostate gland ventral lobe, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increase in the average weight of the rodent prostate lobe that is located below the ventral aspect of the bladder neck 2022-02-15T10:41:18Z increased VP weight increased ventral prostate lobe weight MPheno.ontology MP:0031364 increased prostate gland ventral lobe weight MP:0031364 increase in the average weight of the rodent prostate lobe that is located below the ventral aspect of the bladder neck https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the prostate gland ventral lobe, typically resulting in increased size 2022-02-15T10:45:42Z VP hyperplasia hyperplastic prostate gland ventral lobe hyperplastic ventral prostate lobe ventral prostate hyperplasia MPheno.ontology MP:0031365 prostate gland ventral lobe hyperplasia MP:0031365 increase in the number of normal cells in normal arrangement in the prostate gland ventral lobe, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 reduction in the average weight of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle 2022-02-15T10:51:24Z decreased DLP weight decreased dorsolateral prostate lobe weight reduced DLP weight reduced dorsolateral prostate lobe weight reduced prostate gland dorsolateral lobe weight MPheno.ontology MP:0031366 decreased prostate gland dorsolateral lobe weight MP:0031366 reduction in the average weight of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the prostate gland dorsolateral lobe, typically resulting in decreased size 2022-02-15T10:56:10Z DLP hypoplasia dorsolateral prostate hypoplasia hypoplastic dorsolateral prostate lobe hypoplastic prostate gland dorsolateral lobe MPheno.ontology MP:0031367 prostate gland dorsolateral lobe hypoplasia MP:0031367 decrease in the number of normal cells in normal arrangement in the prostate gland dorsolateral lobe, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increase in the average weight of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle 2022-02-15T11:00:20Z increased DLP weight increased dorsolateral prostate lobe weight MPheno.ontology MP:0031368 increased prostate gland dorsolateral lobe weight MP:0031368 increase in the average weight of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the prostate gland dorsolateral lobe, typically resulting in increased size 2022-02-15T11:06:29Z DLP hyperplasia dorsolateral prostate hyperplasia hyperplastic dorsolateral prostate lobe hyperplastic prostate gland dorsolateral lobe MPheno.ontology MP:0031369 prostate gland dorsolateral lobe hyperplasia MP:0031369 increase in the number of normal cells in normal arrangement in the prostate gland dorsolateral lobe, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 anomaly in the resolution of the male germline syncytium or cyst into individual gametes by packaging each spermatid into its own plasma membrane 2022-02-28T11:03:33Z MPheno.ontology MP:0031372 abnormal sperm individualization MP:0031372 anomaly in the resolution of the male germline syncytium or cyst into individual gametes by packaging each spermatid into its own plasma membrane GO:0007291 any structural morphology of the ring-like portion of the manchette that surrounds the base of the elongating spermatid nucleus below the acroplaxome marginal ring and plays a key role in shaping the nucleus and the sperm head; microtubules extend from the perinuclear ring into the cytoplasm and/or basal body of the spermatid 2022-03-14T12:21:08Z MPheno.ontology MP:0031373 Although the perinuclear ring is regarded as the microtubule-organizing center for the manchette, findings about the nucleation site and the direction of microtubules are inconsistent. During spermatid differentiation, the manchette moves toward the tail neck region, with constriction of the perinuclear ring, which contributes to sculpting of the sperm head in mice. abnormal manchette perinuclear ring morphology MP:0031373 any structural morphology of the ring-like portion of the manchette that surrounds the base of the elongating spermatid nucleus below the acroplaxome marginal ring and plays a key role in shaping the nucleus and the sperm head; microtubules extend from the perinuclear ring into the cytoplasm and/or basal body of the spermatid PMID:22366765 PMID:33144677 Although the perinuclear ring is regarded as the microtubule-organizing center for the manchette, findings about the nucleation site and the direction of microtubules are inconsistent. During spermatid differentiation, the manchette moves toward the tail neck region, with constriction of the perinuclear ring, which contributes to sculpting of the sperm head in mice. PMID:33144677 any anomaly in the aggregation, arrangement and/or bonding together of a set of components to form a manchette 2022-03-14T13:06:14Z abnormal manchette formation MPheno.ontology MP:0031374 abnormal manchette assembly MP:0031374 any anomaly in the aggregation, arrangement and/or bonding together of a set of components to form a manchette GO:1905198 any anomaly in the disaggregation of a manchette into its constituent components 2022-03-14T13:46:52Z MPheno.ontology MP:0031375 abnormal manchette disassembly MP:0031375 any anomaly in the disaggregation of a manchette into its constituent components GO:1905199 anomaly in the calcium ion regulated exocytosis which results in fusion of the acrosomal vesicle with the plasma membrane of the sperm as part of the acrosome reaction 2022-03-14T16:46:42Z abnormal acrosome exocytosis MPheno.ontology abnormal acrosomal granule exocytosis MP:0031376 abnormal acrosomal vesicle exocytosis MP:0031376 anomaly in the calcium ion regulated exocytosis which results in fusion of the acrosomal vesicle with the plasma membrane of the sperm as part of the acrosome reaction GO:0060478 an external genital phenotype that is not clearly assignable to a single sex 2022-03-14T18:47:07Z ambiguous genitalia indeterminate external genitalia MPheno.ontology MP:0031377 ambiguous external genitalia MP:0031377 an external genital phenotype that is not clearly assignable to a single sex HP:0000062 ambiguous external genitalia in an organism with XY genetic sex 2022-03-14T18:57:50Z ambiguous external genitalia in males MPheno.ontology MP:0031378 ambiguous external male genitalia MP:0031378 ambiguous external genitalia in an organism with XY genetic sex HP:0000033 ambiguous external genitalia in an organism with XX genetic sex 2022-03-14T19:02:20Z ambiguous external genitalia in females MPheno.ontology MP:0031379 ambiguous external female genitalia MP:0031379 ambiguous external genitalia in an organism with XX genetic sex HP:0000061 abnormal numbers of the maturing ovarian follicle that has two or more layers of granulosa cells but lacks antra 2022-03-16T10:48:12Z abnormal folliculus ovaricus secondarius number abnormal pre-antral follicle number abnormal preantral follicle number MPheno.ontology MP:0031380 abnormal secondary ovarian follicle number MP:0031380 abnormal numbers of the maturing ovarian follicle that has two or more layers of granulosa cells but lacks antra UBERON:0000036 fewer than normal numbers of the maturing ovarian follicle that has two or more layers of granulosa cells but lacks antra 2022-03-16T11:06:54Z decreased folliculus ovaricus secondarius number decreased pre-antral follicle number decreased preantral follicle number reduced folliculus ovaricus secondarius number reduced pre-antral follicle number reduced preantral follicle number reduced secondary ovarian follicle number MPheno.ontology MP:0031381 decreased secondary ovarian follicle number MP:0031381 fewer than normal numbers of the maturing ovarian follicle that has two or more layers of granulosa cells but lacks antra UBERON:0000036 absence of the maturing ovarian follicle that has two or more layers of granulosa cells but lacks antra 2022-03-16T11:21:25Z absent folliculus ovaricus secondarius absent pre-antral follicles absent preantral follicles MPheno.ontology MP:0031382 absent secondary ovarian follicles MP:0031382 absence of the maturing ovarian follicle that has two or more layers of granulosa cells but lacks antra UBERON:0000036 greater than normal numbers of the maturing ovarian follicle that has two or more layers of granulosa cells but lacks antra 2022-03-16T11:29:33Z increased folliculus ovaricus secondarius number increased pre-antral follicle number increased preantral follicle number MPheno.ontology MP:0031383 increased secondary ovarian follicle number MP:0031383 greater than normal numbers of the maturing ovarian follicle that has two or more layers of granulosa cells but lacks antra UBERON:0000036 reduced ability of the group of barriers and transport systems in the brain capillary endothelium to control the entry of substances into the brain extracellular space from the blood 2022-03-21T16:35:28Z impaired BBB function increased BBB leakage increased BBB permeability increased blood-brain barrier leakage increased blood-brain barrier permeability leaky blood-brain barrier MPheno.ontology MP:0031384 impaired blood-brain barrier function MP:0031384 reduced ability of the group of barriers and transport systems in the brain capillary endothelium to control the entry of substances into the brain extracellular space from the blood ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 increased ability of the group of barriers and transport systems in the brain capillary endothelium to control the entry of substances into the brain extracellular space from the blood 2022-03-21T16:42:14Z decreased BBB leakage decreased BBB permeability decreased blood-brain barrier leakage decreased blood-brain barrier permeability enhanced BBB function improved BBB function improved blood-brain barrier function reduced BBB leakage reduced BBB permeability reduced blood-brain barrier leakage reduced blood-brain barrier permeability MPheno.ontology MP:0031385 enhanced blood-brain barrier function MP:0031385 increased ability of the group of barriers and transport systems in the brain capillary endothelium to control the entry of substances into the brain extracellular space from the blood ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 increased distance between the perinuclear ring of the manchette and the posterior portion of the spermatid nucleus 2022-03-24T09:08:35Z increased manchette length long manchette manchette elongation MPheno.ontology MP:0031386 elongated manchette MP:0031386 increased distance between the perinuclear ring of the manchette and the posterior portion of the spermatid nucleus PMID:22654669 anomaly in the movement of vesicles and protein complexes carried out by molecular motors, kinesins and dynein, along the microtubule tracks within the manchette and by myosin along actin filaments 2022-03-24T10:45:10Z abnormal IMT MPheno.ontology MP:0031387 abnormal intramanchette transport MP:0031387 anomaly in the movement of vesicles and protein complexes carried out by molecular motors, kinesins and dynein, along the microtubule tracks within the manchette and by myosin along actin filaments GO:1990953 absence of the conic array of microtubules that invests the posterior nucleus of a spermatid and is believed to play a role in definitive posterior head-shaping events during spermiogenesis 2022-03-24T11:13:41Z MPheno.ontology MP:0031388 absent manchette MP:0031388 absence of the conic array of microtubules that invests the posterior nucleus of a spermatid and is believed to play a role in definitive posterior head-shaping events during spermiogenesis https://orcid.org/0000-0002-6490-7723 any structural anomaly of the testis-specific adheren junctions that are present during the seminiferous epithelial cycle of spermatogenesis at the Sertoli-Sertoli cell interface (known as the basal ES at the blood-testis barrier) or at the Sertoli-elongating spermatid interface (known as the apical ES in the adluminal compartment) 2022-03-24T15:02:54Z abnormal ectoplasmic specialisation morphology MPheno.ontology MP:0031389 abnormal ectoplasmic specialization morphology MP:0031389 any structural anomaly of the testis-specific adheren junctions that are present during the seminiferous epithelial cycle of spermatogenesis at the Sertoli-Sertoli cell interface (known as the basal ES at the blood-testis barrier) or at the Sertoli-elongating spermatid interface (known as the apical ES in the adluminal compartment) PMID:18068662 PMID:23546604 increase in the number of normal cells in normal arrangement in the myometrium, typically resulting in increased size 2022-03-31T14:43:44Z hyperplastic myometrium myometrial hyperplasia uterine smooth muscle hyperplasia uterus smooth muscle hyperplasia MPheno.ontology MP:0031390 myometrium hyperplasia MP:0031390 increase in the number of normal cells in normal arrangement in the myometrium, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 general increase in locomotor activity; increased movement from one place to another 2022-04-04T12:34:06Z high spontaneous locomotor activity hyperlocomotion increased activity in horizontal open field test increased spontaneous locomotor activity wild running MPheno.ontology MP:0031391 increased locomotor activity MP:0031391 general increase in locomotor activity; increased movement from one place to another https://orcid.org/0000-0002-6490-7723 general reduction in the movement of the body or any of its parts 2022-04-04T13:50:11Z decreased physical activity hypoactive reduced physical activity underactive MPheno.ontology MP:0031392 hypoactivity MP:0031392 general reduction in the movement of the body or any of its parts NBO:0000338 https://orcid.org/0000-0002-6490-7723 anomaly in the processes involved in the maintenance of an internal equilibrium of bicarbonate within the body or between a cell and its external environment; bicarbonate is a polyatomic anion with the chemical formula HCO3- that serves a crucial role in the physiological pH buffering system 2022-04-18T11:32:32Z abnormal HCO3- homeostasis abnormal hydrogencarbonate homeostasis MPheno.ontology MP:0031393 IUPAC (International Union of Pure and Applied Chemistry)-recommended nomenclature is hydrogencarbonate with the chemical formula CHO3. abnormal bicarbonate homeostasis MP:0031393 anomaly in the processes involved in the maintenance of an internal equilibrium of bicarbonate within the body or between a cell and its external environment; bicarbonate is a polyatomic anion with the chemical formula HCO3- that serves a crucial role in the physiological pH buffering system CHEBI:17544 https://orcid.org/0000-0002-6490-7723 any anomaly in the concentration of bicarbonate in the body 2022-04-18T11:42:35Z abnormal HCO3- level abnormal hydrogencarbonate level MPheno.ontology MP:0031394 abnormal bicarbonate level MP:0031394 any anomaly in the concentration of bicarbonate in the body https://orcid.org/0000-0002-6490-7723 presence of excess mast cell numbers in any portion of the skin 2022-04-18T14:25:11Z increased cutaneous mast cell number increased mast cell number in the skin increased skin mast cell number MPheno.ontology MP:0031395 Cutaneous mastocytosis is limited to the skin whereas systemic mastocytosis affects extracutaneous tissues (such as spleen, liver, bone marrow, and lymph nodes) in addition to skin. cutaneous mastocytosis MP:0031395 presence of excess mast cell numbers in any portion of the skin https://orcid.org/0000-0002-6490-7723 Cutaneous mastocytosis is limited to the skin whereas systemic mastocytosis affects extracutaneous tissues (such as spleen, liver, bone marrow, and lymph nodes) in addition to skin. https://www.mdpi.com/2077-0383/10/7/1474/htm https://www.uptodate.com/contents/mastocytosis-cutaneous-and-systemic-in-children-epidemiology-clinical-manifestations-evaluation-and-diagnosis any anomaly in the concentration of the enzyme that catalyzes the reaction: N-acyl-L-aspartate + H2O = a fatty acid anion + L-aspartate 2022-05-16T07:27:25Z aberrant aspartoacylase level abnormal N-acetylaspartate amidohydrolase level abnormal N-acyl-L-aspartate amidohydrolase level abnormal acetyl-aspartic deaminase level abnormal acylase II level abnormal aminoacylase II level altered aspartoacylase level MPheno.ontology MP:0031396 abnormal aspartoacylase level MP:0031396 any anomaly in the concentration of the enzyme that catalyzes the reaction: N-acyl-L-aspartate + H2O = a fatty acid anion + L-aspartate GO:0019807 PMID:10820213 https://orcid.org/0000-0003-3645-6803 elevated concentration of the enzyme that catalyzes the reaction: N-acyl-L-aspartate + H2O = a fatty acid anion + L-aspartate 2022-05-16T07:57:02Z elevated aspartoacylase level increased N-acetylaspartate amidohydrolase level increased N-acyl-L-aspartate amidohydrolase level increased acetyl-aspartic deaminase level increased acylase II level increased aminoacylase II level MPheno.ontology MP:0031397 increased aspartoacylase level MP:0031397 elevated concentration of the enzyme that catalyzes the reaction: N-acyl-L-aspartate + H2O = a fatty acid anion + L-aspartate GO:0019807 PMID:10820213 https://orcid.org/0000-0003-3645-6803 reduced concentration of the enzyme that catalyzes the reaction: N-acyl-L-aspartate + H2O = a fatty acid anion + L-aspartate 2022-05-16T08:10:08Z decreased N-acetylaspartate amidohydrolase level decreased N-acyl-L-aspartate amidohydrolase level decreased acetyl-aspartic deaminase level decreased acylase II level decreased aminoacylase II level reduced N-acetylaspartate amidohydrolase level reduced N-acyl-L-aspartate amidohydrolase level reduced acetyl-aspartic deaminase level reduced acylase II level reduced aminoacylase II level reduced aspartoacylase level MPheno.ontology MP:0031398 decreased aspartoacylase level MP:0031398 reduced concentration of the enzyme that catalyzes the reaction: N-acyl-L-aspartate + H2O = a fatty acid anion + L-aspartate GO:0019807 PMID:10820213 https://orcid.org/0000-0003-3645-6803 the separation of the prepuce from the glans penis (balanus), a result of the cornification of the balano-preputial epithelium, occurs at an earlier than expected age 2022-05-16T09:15:28Z early balano-preputial separation early onset of balano-preputial separation early onset of balanopreputial separation early onset of preputial separation early preputial separation precocious balano-preputial separation precocious balanopreputial separation precocious preputial separation MPheno.ontology MP:0031399 Balanopreputial separation is used as an index for the onset of male puberty and is androgen-sensitive in the rat early balanopreputial separation MP:0031399 the separation of the prepuce from the glans penis (balanus), a result of the cornification of the balano-preputial epithelium, occurs at an earlier than expected age PMID:889997 Balanopreputial separation is used as an index for the onset of male puberty and is androgen-sensitive in the rat PMID:889997 less than the expected number of esophageal carcinomas derived from stratified squamous epithelium, occurring in a specific population in a given time period 2022-05-16T10:32:39Z decreased esophageal squamous cell carcinoma incidence decreased oesophageal squamous cell carcinoma incidence decreased oesophagus squamous cell carcinoma incidence reduced esophageal squamous cell carcinoma incidence reduced esophagus squamous cell carcinoma incidence reduced oesophageal squamous cell carcinoma incidence reduced oesophagus squamous cell carcinoma incidence MPheno.ontology MP:0031400 decreased esophagus squamous cell carcinoma incidence MP:0031400 less than the expected number of esophageal carcinomas derived from stratified squamous epithelium, occurring in a specific population in a given time period PMID:32123074 https://orcid.org/0000-0001-5256-8683 https://orcid.org/0000-0002-6490-7723 greater than the expected number of esophageal carcinomas derived from stratified squamous epithelium, occurring in a specific population in a given time period 2022-05-16T10:44:25Z increased esophageal squamous cell carcinoma incidence increased oesophageal squamous cell carcinoma incidence increased oesophagus squamous cell carcinoma incidence MPheno.ontology MP:0031401 increased esophagus squamous cell carcinoma incidence MP:0031401 greater than the expected number of esophageal carcinomas derived from stratified squamous epithelium, occurring in a specific population in a given time period https://orcid.org/0000-0002-6490-7723 decreased muscle exhaustion or decreased susceptibility to muscle exhaustion 2022-05-16T11:36:42Z decreased muscle fatiguability decreased susceptibility to muscle fatigue increased resistance to muscle fatigue reduced muscle fatigability reduced muscle fatiguability reduced susceptibility to muscle fatigue MPheno.ontology MP:0031402 decreased muscle fatigability MP:0031402 decreased muscle exhaustion or decreased susceptibility to muscle exhaustion https://orcid.org/0000-0002-6490-7723 enhancement of the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa 2022-05-23T08:32:13Z enhanced TGF response enhanced tubuloglomerular feedback response improved TGF response improved tubuloglomerular feedback response increased TGF response MPheno.ontology MP:0031404 increased tubuloglomerular feedback response MP:0031404 enhancement of the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa PMID:31932071 https://orcid.org/0000-0001-5256-8683 any anomaly in the ability of a Sertoli cell population to undergo expansion by cell division 2022-06-02T11:39:01Z MPheno.ontology MP:0031405 abnormal Sertoli cell proliferation MP:0031405 any anomaly in the ability of a Sertoli cell population to undergo expansion by cell division https://orcid.org/0000-0002-6490-7723 reduction in the expansion rate of a Sertoli cell population by cell division 2022-06-02T11:44:14Z reduced Sertoli cell proliferation MPheno.ontology MP:0031406 decreased Sertoli cell proliferation MP:0031406 reduction in the expansion rate of a Sertoli cell population by cell division https://orcid.org/0000-0002-6490-7723 increase in the expansion rate of a Sertoli cell population by cell division 2022-06-02T11:47:28Z elevated Sertoli cell proliferation MPheno.ontology MP:0031407 increased Sertoli cell proliferation MP:0031407 increase in the expansion rate of a Sertoli cell population by cell division https://orcid.org/0000-0002-6490-7723 presence of more than one heads per sperm cell 2022-06-02T12:17:48Z multiheaded sperm multiple sperm heads polycephalic sperm supernumerary sperm heads MPheno.ontology MP:0031408 multi-headed sperm MP:0031408 presence of more than one heads per sperm cell PMID:26472152 PMID:33008835 https://orcid.org/0000-0002-6490-7723 presence of two heads per sperm cell 2022-06-02T12:43:43Z bicephalic sperm dicephalic sperm double headed sperm double sperm heads two sperm heads two-headed sperm MPheno.ontology MP:0031409 double-headed sperm MP:0031409 presence of two heads per sperm cell https://orcid.org/0000-0002-6490-7723 presence of two flagella per sperm cell 2022-06-02T13:17:33Z bi-flagellate sperm bi-flagellated sperm biflagellate sperm double sperm tails double-tailed sperm duplicate sperm tails two sperm flagella two sperm tails two tailed sperm two-tailed sperm MPheno.ontology MP:0031410 biflagellated sperm MP:0031410 presence of two flagella per sperm cell https://orcid.org/0000-0002-6490-7723 increase in the frequency in which an ovum (or ova) is/are released from a rupturing ovarian follicle(s) 2022-06-02T13:48:37Z enhanced ovulation increased ovulation increased ovulation frequency MPheno.ontology MP:0031411 increased ovulation rate MP:0031411 increase in the frequency in which an ovum (or ova) is/are released from a rupturing ovarian follicle(s) ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any anomaly in the concentration of naturally occurring esters of three fatty acids and glycerol in muscle tissue 2022-06-06T09:30:40Z MPheno.ontology MP:0031412 abnormal muscle triglyceride level MP:0031412 any anomaly in the concentration of naturally occurring esters of three fatty acids and glycerol in muscle tissue https://orcid.org/0000-0002-6490-7723 any anomaly in the concentration of naturally occurring esters of three fatty acids and glycerol in skeletal muscle tissue 2022-06-06T09:40:08Z MPheno.ontology MP:0031413 abnormal skeletal muscle triglyceride level MP:0031413 any anomaly in the concentration of naturally occurring esters of three fatty acids and glycerol in skeletal muscle tissue PMID:11254461 https://orcid.org/0000-0001-5256-8683 https://orcid.org/0000-0002-6490-7723 less than the normal concentration of naturally occurring esters of three fatty acids and glycerol in skeletal muscle tissue 2022-06-06T09:51:35Z reduced skeletal muscle triglyceride level MPheno.ontology MP:0031414 decreased skeletal muscle triglyceride level MP:0031414 less than the normal concentration of naturally occurring esters of three fatty acids and glycerol in skeletal muscle tissue PMID:11254461 https://orcid.org/0000-0001-5256-8683 https://orcid.org/0000-0002-6490-7723 greater than the normal concentration of naturally occurring esters of three fatty acids and glycerol in skeletal muscle tissue 2022-06-06T09:59:22Z elevated skeletal muscle triglyceride level MPheno.ontology MP:0031415 increased skeletal muscle triglyceride level MP:0031415 greater than the normal concentration of naturally occurring esters of three fatty acids and glycerol in skeletal muscle tissue PMID:11254461 https://orcid.org/0000-0001-5256-8683 https://orcid.org/0000-0002-6490-7723 any anomaly in the concentration of naturally occurring esters of three fatty acids and glycerol in heart muscle 2022-06-06T10:06:02Z abnormal cardiomyocyte triglyceride level abnormal heart muscle triglyceride level abnormal myocardial triglyceride level MPheno.ontology MP:0031416 abnormal cardiac muscle triglyceride level MP:0031416 any anomaly in the concentration of naturally occurring esters of three fatty acids and glycerol in heart muscle https://orcid.org/0000-0002-6490-7723 less than the normal concentration of naturally occurring esters of three fatty acids and glycerol in heart muscle 2022-06-06T10:16:27Z decreased cardiomyocyte triglyceride level decreased heart muscle triglyceride level decreased myocardial triglyceride level reduced cardiac muscle triglyceride level reduced cardiomyocyte triglyceride level reduced heart muscle triglyceride level reduced myocardial triglyceride level MPheno.ontology MP:0031417 decreased cardiac muscle triglyceride level MP:0031417 less than the normal concentration of naturally occurring esters of three fatty acids and glycerol in heart muscle https://orcid.org/0000-0002-6490-7723 greater than the normal concentration of naturally occurring esters of three fatty acids and glycerol in heart muscle 2022-06-06T10:23:25Z elevated cardiac muscle triglyceride level increased cardiomyocyte triglyceride level increased heart muscle triglyceride level increased myocardial triglyceride level MPheno.ontology MP:0031418 increased cardiac muscle triglyceride level MP:0031418 greater than the normal concentration of naturally occurring esters of three fatty acids and glycerol in heart muscle https://orcid.org/0000-0002-6490-7723 increase in the time between the estrus phases of the estrous cycle in females 2022-06-06T13:47:20Z delayed estrous delayed estrous phase delayed estrus phase delayed oestrous delayed oestrous phase MPheno.ontology MP:0031419 delayed estrus MP:0031419 increase in the time between the estrus phases of the estrous cycle in females https://orcid.org/0000-0002-6490-7723 https://orcid.org/0000-0003-4606-0597 decreased ability of a female to be induced to ovulate resulting in fewer than the expected number of ova after treatment with specific gonadotrophic hormones 2022-06-06T17:57:42Z decreased superovulation reduced superovulation decreased superovulation frequency reduced superovulation frequency reduced superovulation rate MPheno.ontology MP:0031420 decreased superovulation rate MP:0031420 decreased ability of a female to be induced to ovulate resulting in fewer than the expected number of ova after treatment with specific gonadotrophic hormones https://orcid.org/0000-0002-6490-7723 increased ability of a female to be induced to ovulate resulting in greater than the expected number of ova after treatment with specific gonadotrophic hormones 2022-06-06T18:02:51Z enhanced superovulation increased superovulation increased superovulation frequency MPheno.ontology MP:0031421 increased superovulation rate MP:0031421 increased ability of a female to be induced to ovulate resulting in greater than the expected number of ova after treatment with specific gonadotrophic hormones https://orcid.org/0000-0002-6490-7723 inability of a female to be induced to ovulate after treatment with specific gonadotrophic hormones 2022-06-06T18:07:06Z MPheno.ontology MP:0031422 failure of superovulation MP:0031422 inability of a female to be induced to ovulate after treatment with specific gonadotrophic hormones https://orcid.org/0000-0002-6490-7723 any anomaly in the structural and functional degradation of the corpus luteum occurring at the end of the luteal phase of both the estrous and menstrual cycles in the absence of pregnancy; during normal luteolysis, loss of the capacity to synthesize and secrete progesterone (functional luteolysis) is followed by loss of the cells that comprise the corpus luteum (structural luteolysis) 2022-06-20T12:43:29Z abnormal CL regression abnormal corpus luteum regression abnormal luteal regression MPheno.ontology MP:0031423 The regression of the corpus luteum is essential to reset the ovarian cycle, so that mammals obtain another chance to become pregnant. abnormal luteolysis MP:0031423 any anomaly in the structural and functional degradation of the corpus luteum occurring at the end of the luteal phase of both the estrous and menstrual cycles in the absence of pregnancy; during normal luteolysis, loss of the capacity to synthesize and secrete progesterone (functional luteolysis) is followed by loss of the cells that comprise the corpus luteum (structural luteolysis) GO:0001554 https://en.wiktionary.org/wiki/luteolysis The regression of the corpus luteum is essential to reset the ovarian cycle, so that mammals obtain another chance to become pregnant. PMID:24586455 increased physiological ability of a female organism to produce live offspring 2022-06-20T13:24:18Z increased female fertility MPheno.ontology MP:0031424 enhanced female fertility MP:0031424 increased physiological ability of a female organism to produce live offspring https://orcid.org/0000-0002-6490-7723 increased physiological ability of a male organism to produce live offspring 2022-06-20T13:29:01Z increased male fertility MPheno.ontology MP:0031425 enhanced male fertility MP:0031425 increased physiological ability of a male organism to produce live offspring https://orcid.org/0000-0002-6490-7723 increased mobility of the spermatozoa 2022-06-27T06:50:15Z enhanced sperm motility MPheno.ontology MP:0031426 increased sperm motility MP:0031426 increased mobility of the spermatozoa https://orcid.org/0000-0002-6490-7723 increase in the ability of sperm to move in a more or less straight line 2022-06-27T07:27:34Z enhanced sperm progressive motility MPheno.ontology MP:0031427 increased sperm progressive motility MP:0031427 increase in the ability of sperm to move in a more or less straight line https://orcid.org/0000-0002-6490-7723 partial or complete displacement of the crystalline lens of the eye out of its normal position 2022-06-27T08:37:19Z dislocated lens dislocated lenses ectopia lentis lens displacement MPheno.ontology MP:0031428 A partial displacement (or dislocation) of the lens is described as lens subluxation, while a complete displacement is termed lens luxation. lens dislocation MP:0031428 partial or complete displacement of the crystalline lens of the eye out of its normal position https://orcid.org/0000-0002-6490-7723 complete displacement of the crystalline lens of the eye out of its normal position 2022-06-27T10:39:13Z complete lens dislocation complete lens displacement fully luxated lens fully luxated lenses MPheno.ontology MP:0031429 The lens is defined as luxated (dislocated) when it lies completely outside of the hyaloid fossa, is free-floating in the vitreous, is in the anterior chamber, or lies directly on the retina. lens luxation MP:0031429 complete displacement of the crystalline lens of the eye out of its normal position https://orcid.org/0000-0002-6490-7723 The lens is defined as luxated (dislocated) when it lies completely outside of the hyaloid fossa, is free-floating in the vitreous, is in the anterior chamber, or lies directly on the retina. https://eyewiki.aao.org/Ectopia_Lentis partial displacement of the crystalline lens of the eye out of its normal position 2022-06-27T11:08:33Z partial lens dislocation partial lens displacement partially dislocated lens partially dislocated lenses subluxated lens subluxated lenses MPheno.ontology MP:0031430 The lens is considered subluxated when it is partially displaced but remains within the lens space. lens subluxation MP:0031430 partial displacement of the crystalline lens of the eye out of its normal position https://orcid.org/0000-0002-6490-7723 The lens is considered subluxated when it is partially displaced but remains within the lens space. https://eyewiki.aao.org/Ectopia_Lentis increase in the number of trophoblast cells that arise in the junctional zone of the placenta 2022-06-27T11:59:42Z higher spongiotrophoblast cell number MPheno.ontology MP:0031431 increased spongiotrophoblast cell number MP:0031431 increase in the number of trophoblast cells that arise in the junctional zone of the placenta https://orcid.org/0000-0002-6490-7723 a puncture or hole through the cornea stroma resulting from various diseases or trauma 2022-06-27T14:10:06Z corneal perforation corneal perforations perforated cornea perforated corneas MPheno.ontology MP:0031432 cornea perforation MP:0031432 a puncture or hole through the cornea stroma resulting from various diseases or trauma https://meshb-prev.nlm.nih.gov/record/ui?ui=D057112 decrease in the frequency of a natural or accidental termination of a pregnancy at a stage where the embryo or the fetus is incapable of surviving independently of the mother 2022-07-11T16:47:12Z decreased spontaneous abortion rate reduced miscarriage rate reduced spontaneous abortion rate MPheno.ontology MP:0031433 decreased miscarriage rate MP:0031433 decrease in the frequency of a natural or accidental termination of a pregnancy at a stage where the embryo or the fetus is incapable of surviving independently of the mother https://orcid.org/0000-0002-6490-7723 increase in the frequency of a natural or accidental termination of a pregnancy at a stage where the embryo or the fetus is incapable of surviving independently of the mother 2022-07-11T16:52:18Z miscarriage elevated miscarriage rate increased spontaneous abortion rate MPheno.ontology MP:0031434 increased miscarriage rate MP:0031434 increase in the frequency of a natural or accidental termination of a pregnancy at a stage where the embryo or the fetus is incapable of surviving independently of the mother https://orcid.org/0000-0002-6490-7723 any anomaly in the reactions and pathways involved in the formation of a copulatory plug; typically, plugs are formed by coagulation of ejaculated proteins to form a solid mass within the female reproductive tract 2022-07-11T17:47:53Z abnormal mating plug biosynthesis abnormal vaginal plug biosynthesis MPheno.ontology MP:0031435 This term should be used when there is a physiological anomaly in the ability to create a copulatory plug but mating behavior is normal abnormal copulatory plug biosynthesis MP:0031435 any anomaly in the reactions and pathways involved in the formation of a copulatory plug; typically, plugs are formed by coagulation of ejaculated proteins to form a solid mass within the female reproductive tract PMID:33077605 decrease in the number of copulatory plugs deposited in a study population of females by a male(s) at the termination of copulation 2022-07-11T18:49:35Z decreased copulatory plug formation decreased mating plug formation decreased vaginal plug formation decreased mating plug deposition decreased vaginal plug deposition reduced copulatory plug deposition reduced mating plug deposition reduced vaginal plug deposition MPheno.ontology MP:0031436 decreased copulatory plug deposition MP:0031436 decrease in the number of copulatory plugs deposited in a study population of females by a male(s) at the termination of copulation https://orcid.org/0000-0003-3645-6803 increase in the number of copulatory plugs deposited in a study population of females by a male(s) at the termination of copulation 2022-07-11T18:54:48Z increased copulatory plug formation increased mating plug formation increased vaginal plug formation increased mating plug deposition increased vaginal plug deposition MPheno.ontology MP:0031437 increased copulatory plug deposition MP:0031437 increase in the number of copulatory plugs deposited in a study population of females by a male(s) at the termination of copulation https://orcid.org/0000-0003-3645-6803 any structural anomaly of the T-shaped protein complex that links an outer microtubule doublet of the sperm flagellum axoneme with the sheath that surrounds the central pair of microtubules; it is composed of a stalk that attaches to each doublet microtubule and a globular structure (spoke head) that projects toward the central pair of microtubules 2022-08-01T10:17:38Z MPheno.ontology MP:0031438 abnormal sperm radial spoke morphology MP:0031438 any structural anomaly of the T-shaped protein complex that links an outer microtubule doublet of the sperm flagellum axoneme with the sheath that surrounds the central pair of microtubules; it is composed of a stalk that attaches to each doublet microtubule and a globular structure (spoke head) that projects toward the central pair of microtubules GO:0001534 PMID:34871179 decreased size of the lymphatic vessels which form a network that carries lymph around the body 2022-08-02T08:05:24Z decreased lymphatic vessel size reduced lymphatic vessel size small lymphatic vessels MPheno.ontology MP:0031439 small lymphatic vessel MP:0031439 decreased size of the lymphatic vessels which form a network that carries lymph around the body https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the lymphatic vessels, typically resulting in decreased size 2022-08-02T08:12:30Z hypoplastic lymphatic vessel hypoplastic lymphatic vessels MPheno.ontology MP:0031440 lymphatic vessel hypoplasia MP:0031440 decrease in the number of normal cells in normal arrangement in the lymphatic vessels, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increase in the number of cells of the periocular mesenchyme undergoing programmed cell death 2022-09-26T06:37:22Z MPheno.ontology MP:0031441 increased periocular mesenchyme apoptosis MP:0031441 increase in the number of cells of the periocular mesenchyme undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increased size of the channel in the mesencephalon that connects the third and fourth ventricles 2022-10-10T09:56:13Z enlarged aqueduct of Sylvius enlarged aqueduct of midbrain enlarged cerebral aqueduct of Sylvius enlarged mesencephalic duct enlarged mesencephalic vesicle enlarged midbrain cerebral aqueduct expanded cerebral aqueduct expanded midbrain cerebral aqueduct MPheno.ontology MP:0031442 enlarged cerebral aqueduct MP:0031442 increased size of the channel in the mesencephalon that connects the third and fourth ventricles https://orcid.org/0000-0002-6490-7723 atypical location or placement of the tongue in the oral cavity 2022-10-10T16:00:11Z abnormal lingual location abnormal lingual placement abnormal lingual position abnormal tongue location abnormal tongue placement MPheno.ontology MP:0031443 abnormal tongue position MP:0031443 atypical location or placement of the tongue in the oral cavity https://orcid.org/0000-0002-6490-7723 downward or posterior displacement of the tongue toward the pharynx 2022-10-10T16:18:58Z lingual retraction posterior displacement of the tongue retraction of the tongue MPheno.ontology MP:0031444 glossoptosis MP:0031444 downward or posterior displacement of the tongue toward the pharynx HP:0000162 https://en.wikipedia.org/wiki/Glossoptosis a vertical cleft through the center of the upper lip 2022-10-10T16:51:42Z median cleft lip midline cleft lip central cleft upper lip median cleft upper lip median upper lip notch MPheno.ontology MP:0031445 midline cleft upper lip MP:0031445 a vertical cleft through the center of the upper lip PMID:27218021 a cleft of the upper lip affecting the lateral portions rather than the center (midline/median region) of the upper lip 2022-10-10T16:56:37Z non-midline cleft lip paramedian cleft lip non-midline cleft of the upper lip paramedian cleft of the upper lip paramedian cleft upper lip MPheno.ontology MP:0031446 non-midline cleft upper lip MP:0031446 a cleft of the upper lip affecting the lateral portions rather than the center (midline/median region) of the upper lip HP:0100335 https://orcid.org/0000-0002-6490-7723 a non-midline cleft occurring on only one side of the upper lip 2022-10-10T17:05:10Z unilateral cleft lip one sided cleft upper lip one-sided cleft upper lip unilateral cheiloschisis MPheno.ontology MP:0031447 unilateral cleft upper lip MP:0031447 a non-midline cleft occurring on only one side of the upper lip HP:0100333 https://orcid.org/0000-0002-6490-7723 a non-midline cleft occurring on both sides of the upper lip 2022-10-10T17:18:26Z bilateral cleft lip bilateral cheiloschisis MPheno.ontology MP:0031448 bilateral cleft upper lip MP:0031448 a non-midline cleft occurring on both sides of the upper lip HP:0100336 https://orcid.org/0000-0002-6490-7723 any structural abnormality of any of the cartilaginous elements formed from hyaline cartilage that provide form and support to the nose 2022-10-17T07:36:27Z MPheno.ontology MP:0031449 abnormal nasal cartilage morphology MP:0031449 any structural abnormality of any of the cartilaginous elements formed from hyaline cartilage that provide form and support to the nose https://en.wikipedia.org/wiki/Nasal_cartilages https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in any of the hyaline cartilaginous components of the nose, typically resulting in decreased size 2022-10-17T08:35:26Z hypoplastic nasal cartilage hypoplastic nasal cartilages MPheno.ontology MP:0031450 nasal cartilage hypoplasia MP:0031450 decrease in the number of normal cells in normal arrangement in any of the hyaline cartilaginous components of the nose, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of the slight longitudinal depression on the dorsal surface of the tongue which extends from the tip of the tongue to the foramen cecum and divides the dorsum into right and left halves 2022-10-17T10:17:51Z abnormal median groove of tongue morphology abnormal median longitudinal raphe of tongue morphology MPheno.ontology MP:0031451 abnormal median sulcus of tongue morphology MP:0031451 any structural anomaly of the slight longitudinal depression on the dorsal surface of the tongue which extends from the tip of the tongue to the foramen cecum and divides the dorsum into right and left halves https://medical-dictionary.thefreedictionary.com/median+sulcus+of+tongue https://www.imaios.com/en/e-Anatomy/Anatomical-Parts/Median-sulcus-of-tongue decreased number of any population of neural crest cells undergoing programmed cell death 2022-10-17T11:21:05Z decreased NCC apoptosis reduced NCC apoptosis reduced neural crest cell apoptosis MPheno.ontology MP:0031452 decreased neural crest cell apoptosis MP:0031452 decreased number of any population of neural crest cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 decreased number of cardiac neural crest cells (NCCs) undergoing programmed cell death 2022-10-17T11:35:07Z decreased cardiac NCC apoptosis reduced cardiac NCC apoptosis reduced cardiac neural crest cell apoptosis MPheno.ontology MP:0031453 decreased cardiac neural crest cell apoptosis MP:0031453 decreased number of cardiac neural crest cells (NCCs) undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 decreased number of cranial neural crest cells (NCCs) undergoing programmed cell death 2022-10-17T11:41:05Z decreased cephalic NCC apoptosis decreased cephalic neural crest cell apoptosis decreased cranial NCC apoptosis decreased head NCC apoptosis decreased head neural crest cell apoptosis reduced cephalic NCC apoptosis reduced cephalic neural crest cell apoptosis reduced cranial NCC apoptosis reduced cranial neural crest cell apoptosis reduced head NCC apoptosis reduced head neural crest cell apoptosis MPheno.ontology MP:0031454 decreased cranial neural crest cell apoptosis MP:0031454 decreased number of cranial neural crest cells (NCCs) undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 decreased number of trunk neural crest cells (NCCs) undergoing programmed cell death 2022-10-17T11:53:23Z decreased trunk NCC apoptosis reduced trunk NCC apoptosis reduced trunk neural crest cell apoptosis MPheno.ontology MP:0031455 decreased trunk neural crest cell apoptosis MP:0031455 decreased number of trunk neural crest cells (NCCs) undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 decreased number of vagal neural crest cells (NCCs) undergoing programmed cell death 2022-10-17T11:58:33Z decreased vagal NCC apoptosis reduced vagal NCC apoptosis reduced vagal neural crest cell apoptosis MPheno.ontology MP:0031456 decreased vagal neural crest cell apoptosis MP:0031456 decreased number of vagal neural crest cells (NCCs) undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 any structural anomaly of the narrow process of cartilage found between the vomer and the cartilage of the nasal septum; it lies below, but is not connected to, the rudimentary vomeronasal organ 2022-10-24T07:10:08Z abnormal Huschke's cartilage morphology abnormal Jacobson's cartilage morphology MPheno.ontology MP:0031457 abnormal vomeronasal cartilage morphology MP:0031457 any structural anomaly of the narrow process of cartilage found between the vomer and the cartilage of the nasal septum; it lies below, but is not connected to, the rudimentary vomeronasal organ https://en.wikipedia.org/wiki/Vomeronasal_cartilage https://orcid.org/0000-0002-6490-7723 https://www.merriam-webster.com/medical/vomeronasal%20cartilage absence of both the maxillary and palatine shelves that comprise the bones of the hard palate 2022-10-24T08:56:00Z absent palatal bones MPheno.ontology MP:0031458 absent palate bones MP:0031458 absence of both the maxillary and palatine shelves that comprise the bones of the hard palate https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the maxillary zygomatic process, typically resulting in decreased size 2022-11-14T09:40:02Z hypoplastic malar process hypoplastic maxilla zygomatic process hypoplastic maxillary zygomatic process hypoplastic zygomatic process of the maxilla malar process hypoplasia MPheno.ontology MP:0031459 maxillary zygomatic process hypoplasia MP:0031459 decrease in the number of normal cells in normal arrangement in the maxillary zygomatic process, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 any structural anomaly of either one of the paired outgrowths arising from the oral surface of the embryonic maxillary processes that come together during prenatal development to form the secondary palate 2022-11-14T14:56:55Z abnormal lateral palatine process morphology abnormal secondary palatal shelf morphology MPheno.ontology MP:0031460 abnormal palatal shelf morphology MP:0031460 any structural anomaly of either one of the paired outgrowths arising from the oral surface of the embryonic maxillary processes that come together during prenatal development to form the secondary palate PMID:22186724 UBERON:0005619 https://orcid.org/0000-0002-6490-7723 anomaly in the size of either one or both of the palatal shelves compared to controls 2022-11-14T15:24:07Z abnormal lateral palatine process size abnormal secondary palatal shelf size MPheno.ontology MP:0031461 abnormal palatal shelf size MP:0031461 anomaly in the size of either one or both of the palatal shelves compared to controls https://orcid.org/0000-0002-6490-7723 reduced size of either one or both of the palatal shelves compared to controls 2022-11-14T15:31:00Z decreased lateral palatine process size decreased secondary palatal shelf size reduced lateral palatine process size reduced palatal shelf size reduced secondary palatal shelf size small lateral palatine process small palatal shelf small secondary palatal shelf MPheno.ontology MP:0031462 decreased palatal shelf size MP:0031462 reduced size of either one or both of the palatal shelves compared to controls https://orcid.org/0000-0002-6490-7723 increased size of either one or both of the palatal shelves compared to controls 2022-11-14T15:37:55Z enlarged lateral palatine process enlarged palatal shelf enlarged secondary palatal shelf increased lateral palatine process size increased secondary palatal shelf size MPheno.ontology MP:0031463 increased palatal shelf size MP:0031463 increased size of either one or both of the palatal shelves compared to controls https://orcid.org/0000-0002-6490-7723 any anomaly in the spontaneous neuromuscular movements of the mandible and tongue prior to birth 2023-02-08T08:03:51Z abnormal spontaneous foetal mouth movement MPheno.ontology MP:0031464 Spontaneous fetal mouth movements play a role in proper development of the palate. abnormal spontaneous fetal mouth movement MP:0031464 any anomaly in the spontaneous neuromuscular movements of the mandible and tongue prior to birth PMID:31300413 https://orcid.org/0000-0002-6490-7723 any structural anomaly of the taste bud, a specialized receptor organ consisting of a group of clustered sensory cells, located on the soft palate, in the roof of the mouth; palatal taste buds lack supporting papilla structures and are directly embedded in the epithelium of the soft palate 2023-05-08T10:09:25Z MPheno.ontology MP:0031466 abnormal palatal taste bud morphology MP:0031466 any structural anomaly of the taste bud, a specialized receptor organ consisting of a group of clustered sensory cells, located on the soft palate, in the roof of the mouth; palatal taste buds lack supporting papilla structures and are directly embedded in the epithelium of the soft palate PMID:25299669 UBERON:0034670 absence of the palatal taste buds that normally develop in the epithelium of the soft palate without associated papilla structures 2023-05-08T10:39:10Z absent palatal taste buds MPheno.ontology MP:0031467 absent palatal taste bud MP:0031467 absence of the palatal taste buds that normally develop in the epithelium of the soft palate without associated papilla structures PMID:17015430 PMID:25299669 any structural anomaly of the specialized receptor organ that is a collection of cells spanning the gustatory epithelium 2023-05-15T18:41:47Z abnormal taste buds taste bud dysplasia MPheno.ontology MP:0031468 In humans, lingual taste buds are found exclusively within gustatory papillae of the tongue, including the circumvallate, foliate, and fungiform papillae. Extra-lingual taste buds are smoothly embedded in the surface mucosa without papillae, e.g., buds of the soft palate, oropharynx, larynx (epiglottis), and the upper esophagus. abnormal taste bud morphology MP:0031468 any structural anomaly of the specialized receptor organ that is a collection of cells spanning the gustatory epithelium UBERON:0001727 In humans, lingual taste buds are found exclusively within gustatory papillae of the tongue, including the circumvallate, foliate, and fungiform papillae. Extra-lingual taste buds are smoothly embedded in the surface mucosa without papillae, e.g., buds of the soft palate, oropharynx, larynx (epiglottis), and the upper esophagus. PMID:31604544 https://www.kenhub.com/en/library/anatomy/taste-buds any anomaly in the endocytosis process that results in the uptake of liquid material by cells from their external environment; liquid is enclosed in vesicles, called pinosomes, formed by invagination of the plasma membrane 2023-05-22T10:18:50Z abnormal cell drinking abnormal cellular drinking abnormal fluid-phase endocytosis MPheno.ontology MP:0031469 abnormal pinocytosis MP:0031469 any anomaly in the endocytosis process that results in the uptake of liquid material by cells from their external environment; liquid is enclosed in vesicles, called pinosomes, formed by invagination of the plasma membrane GO:0006907 https://www.biologyonline.com/dictionary/pinocytosis any anomaly in the endocytosis process that results in the uptake of liquid material by cells from their external environment by the 'ruffling' of the cell membrane to form heterogeneously sized intracellular vesicles called macropinosomes, which can be up to 5 micrometers in size 2023-05-22T10:23:32Z MPheno.ontology MP:0031470 abnormal macropinocytosis MP:0031470 any anomaly in the endocytosis process that results in the uptake of liquid material by cells from their external environment by the 'ruffling' of the cell membrane to form heterogeneously sized intracellular vesicles called macropinosomes, which can be up to 5 micrometers in size GO:0044351 https://www.biologyonline.com/dictionary/pinocytosis any anomaly in the endocytosis process that results in the uptake of liquid material by cells from their external environment by invagination of the plasma membrane to form uncoated micropinosomes, differentiated from macropinosomes by their smaller size, on average 95 nm 2023-05-22T10:27:16Z MPheno.ontology MP:0031471 abnormal micropinocytosis MP:0031471 any anomaly in the endocytosis process that results in the uptake of liquid material by cells from their external environment by invagination of the plasma membrane to form uncoated micropinosomes, differentiated from macropinosomes by their smaller size, on average 95 nm GO:0044350 https://www.biologyonline.com/dictionary/pinocytosis change in the timing or the number of female germ cells undergoing programmed cell death 2023-05-22T11:40:31Z abnormal oocyte apoptosis MPheno.ontology MP:0031472 abnormal female germ cell apoptosis MP:0031472 change in the timing or the number of female germ cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 decrease in the number of female germ cells undergoing programmed cell death 2023-05-22T11:45:33Z reduced female germ cell apoptosis decreased oocyte apoptosis reduced oocyte apoptosis MPheno.ontology MP:0031473 decreased female germ cell apoptosis MP:0031473 decrease in the number of female germ cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increase in the number of female germ cells undergoing programmed cell death 2023-05-22T11:51:10Z elevated female germ cell apoptosis elevated oocyte apoptosis increased oocyte apoptosis MPheno.ontology MP:0031474 increased female germ cell apoptosis MP:0031474 increase in the number of female germ cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 decrease in the number of male germ cells undergoing programmed cell death 2023-05-22T16:40:12Z reduced male germ cell apoptosis MPheno.ontology MP:0031475 decreased male germ cell apoptosis MP:0031475 decrease in the number of male germ cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 decrease in the number of ovary cells undergoing programmed cell death 2023-05-22T16:52:11Z decreased ovarian apoptosis reduced ovarian apoptosis reduced ovary apoptosis MPheno.ontology MP:0031476 decreased ovary apoptosis MP:0031476 decrease in the number of ovary cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 abnormal narrowing or constriction of one or more veins venous stenosis MPheno.ontology MP:0031477 vein stenosis MP:0031477 abnormal narrowing or constriction of one or more veins https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in Brunner’s gland, typically resulting in increased size duodenal gland hyperplasia hyperplasia of Brunner’s gland hyperplastic Brunner’s gland hyperplastic Brunner’s glands hyperplastic duodenal gland hyperplastic duodenal glands MPheno.ontology MP:0031478 Brunner’s gland hyperplasia MP:0031478 increase in the number of normal cells in normal arrangement in Brunner’s gland, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 excretion of excessive amounts of xanthine in the urine; xanthine (2,6-dihydroxypurine) is a purine formed in the metabolic breakdown of guanine, but is not present in nucleic acids 2023-07-06T09:32:24Z hyperxanthinuria increased urinary xanthine level xanthinuria MPheno.ontology MP:0031479 increased urine xanthine level MP:0031479 excretion of excessive amounts of xanthine in the urine; xanthine (2,6-dihydroxypurine) is a purine formed in the metabolic breakdown of guanine, but is not present in nucleic acids CHEBI:15318 GO:0046111 https://emedicine.medscape.com/article/984002-overview any anomaly in the amount in the urine of xanthine (2,6-dihydroxypurine), a purine that is formed in the metabolic breakdown of guanine but is not present in nucleic acids 2023-07-06T10:02:48Z abnormal urinary xanthine level MPheno.ontology MP:0031480 abnormal urine xanthine level MP:0031480 any anomaly in the amount in the urine of xanthine (2,6-dihydroxypurine), a purine that is formed in the metabolic breakdown of guanine but is not present in nucleic acids CHEBI:15318 GO:0046111 https://orcid.org/0000-0002-6490-7723 a reduced amount of xanthine in the urine compared to the normal state 2023-07-06T10:08:58Z decreased urinary xanthine level reduced urine xanthine level MPheno.ontology MP:0031481 decreased urine xanthine level MP:0031481 a reduced amount of xanthine in the urine compared to the normal state CHEBI:15318 GO:0046111 https://orcid.org/0000-0002-6490-7723 any anomaly in the amount in the urine of hypoxanthine (6-hydroxy purine), an intermediate in the degradation of adenylate 2023-07-06T10:46:36Z abnormal urinary hypoxanthine level MPheno.ontology MP:0031482 abnormal urine hypoxanthine level MP:0031482 any anomaly in the amount in the urine of hypoxanthine (6-hydroxy purine), an intermediate in the degradation of adenylate CHEBI:17368 GO:0046101 https://orcid.org/0000-0002-6490-7723 a reduced amount of hypoxanthine in the urine compared to the normal state 2023-07-06T10:52:34Z decreased urinary hypoxanthine level reduced urine hypoxanthine level MPheno.ontology MP:0031483 decreased urine hypoxanthine level MP:0031483 a reduced amount of hypoxanthine in the urine compared to the normal state CHEBI:17368 GO:0046101 https://orcid.org/0000-0002-6490-7723 an increased amount of hypoxanthine in the urine compared to the normal state 2023-07-06T10:56:51Z hypoxanthinuria increased urinary hypoxanthine level MPheno.ontology MP:0031484 increased urine hypoxanthine level MP:0031484 an increased amount of hypoxanthine in the urine compared to the normal state CHEBI:17368 GO:0046101 https://orcid.org/0000-0002-6490-7723 any anomaly in the amount in the blood of hypoxanthine (6-hydroxy purine), an intermediate in the degradation of adenylate 2023-07-06T11:23:39Z abnormal blood hypoxanthine level abnormal serum hypoxanthine level MPheno.ontology MP:0031485 abnormal circulating hypoxanthine level MP:0031485 any anomaly in the amount in the blood of hypoxanthine (6-hydroxy purine), an intermediate in the degradation of adenylate CHEBI:17368 GO:0046101 https://orcid.org/0000-0002-6490-7723 a reduced amount of hypoxanthine in the blood compared to the normal state 2023-07-06T11:28:29Z decreased blood hypoxanthine level reduced circulating hypoxanthine level decreased serum hypoxanthine level reduced serum hypoxanthine level MPheno.ontology MP:0031486 decreased circulating hypoxanthine level MP:0031486 a reduced amount of hypoxanthine in the blood compared to the normal state CHEBI:17368 GO:0046101 https://orcid.org/0000-0002-6490-7723 an increased amount of hypoxanthine in the blood compared to the normal state 2023-07-06T11:36:53Z increased blood hypoxanthine level increased serum hypoxanthine level MPheno.ontology MP:0031487 increased circulating hypoxanthine level MP:0031487 an increased amount of hypoxanthine in the blood compared to the normal state CHEBI:17368 GO:0046101 https://orcid.org/0000-0002-6490-7723 any anomaly in the amount in the blood of xanthine (2,6-dihydroxypurine), a purine that is formed in the metabolic breakdown of guanine but is not present in nucleic acids 2023-07-06T12:11:34Z abnormal blood xanthine level abnormal serum xanthine level MPheno.ontology MP:0031488 abnormal circulating xanthine level MP:0031488 any anomaly in the amount in the blood of xanthine (2,6-dihydroxypurine), a purine that is formed in the metabolic breakdown of guanine but is not present in nucleic acids CHEBI:15318 GO:0046111 https://orcid.org/0000-0002-6490-7723 a reduced amount of xanthine in the blood compared to the normal state 2023-07-06T12:17:54Z decreased blood xanthine level reduced circulating xanthine level decreased serum xanthine level reduced serum xanthine level MPheno.ontology MP:0031489 decreased circulating xanthine level MP:0031489 a reduced amount of xanthine in the blood compared to the normal state CHEBI:15318 GO:0046111 https://orcid.org/0000-0002-6490-7723 an increased amount of xanthine in the blood compared to the normal state 2023-07-06T12:22:06Z hyperxanthinaemia hyperxanthinemia increased blood xanthine level increased serum xanthine level MPheno.ontology MP:0031490 increased circulating xanthine level MP:0031490 an increased amount of xanthine in the blood compared to the normal state CHEBI:15318 GO:0046111 https://orcid.org/0000-0002-6490-7723 less than average size of the oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes 2023-07-17T12:29:12Z decreased fenestra ovalis size decreased vestibular window size reduced oval window size reduced vestibular window size small fenestra ovalis small fenestra vestibuli small oval window small vestibular window MPheno.ontology MP:0031491 decreased oval window size MP:0031491 less than average size of the oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 greater than average size of the oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes 2023-07-17T12:37:35Z enlarged fenestra vestibuli enlarged oval window enlarged vestibular window increased fenestra ovalis size increased vestibular window size large fenestra vestibuli large oval window large vestibular window MPheno.ontology MP:0031492 increased oval window size MP:0031492 greater than average size of the oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 greater than average size of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; it serves to regulate fluid pressure in the inner ear 2023-07-17T12:49:24Z enlarged cochlear window enlarged fenestra cochleae enlarged fenestra rotunda enlarged round window increased cochlear window size increased fenestra cochleae size increased fenestra rotunda size large cochlear window large fenestra cochleae large fenestra rotunda large round window MPheno.ontology MP:0031493 increased round window size MP:0031493 greater than average size of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; it serves to regulate fluid pressure in the inner ear ISBN:0-683-40008-8 https://orcid.org/0000-0002-6490-7723 any anomaly in the movements of a developing organism within the uterus 2023-07-17T16:19:43Z abnormal fetal movement abnormal foetal movement MPheno.ontology MP:0031494 abnormal prenatal movement MP:0031494 any anomaly in the movements of a developing organism within the uterus https://en.wikipedia.org/wiki/Fetal_movement https://orcid.org/0000-0002-6490-7723 absence of any movements of a developing organism within the uterus 2023-07-17T16:31:32Z absent fetal movement absent foetal movement MPheno.ontology MP:0031495 absent prenatal movement MP:0031495 absence of any movements of a developing organism within the uterus https://en.wikipedia.org/wiki/Fetal_movement https://orcid.org/0000-0002-6490-7723 acquisition of motor skills or milestones, including gross and/or fine motor abilities, occurs later in development compared to controls 2023-07-20T08:06:39Z locomotor delay motor retardation delay in motor development delayed development of motor milestones delayed motor development delayed motor milestones retarded motor development delayed early motor milestones MPheno.ontology MP:0031496 motor developmental delay MP:0031496 acquisition of motor skills or milestones, including gross and/or fine motor abilities, occurs later in development compared to controls HP:0001270 https://orcid.org/0000-0002-6490-7723 gain in visual acuity or increased ability to distinguish small details 2023-07-20T08:42:02Z MPheno.ontology MP:0031497 increased visual acuity MP:0031497 gain in visual acuity or increased ability to distinguish small details https://orcid.org/0000-0002-6490-7723 deviation from the average range of cornea size for a given organism 2023-07-20T10:12:44Z abnormal corneal size MPheno.ontology MP:0031498 abnormal cornea size MP:0031498 deviation from the average range of cornea size for a given organism https://orcid.org/0000-0002-6490-7723 reduced average size of one or both corneas; generally refers to a congenital defect 2023-07-20T10:18:44Z decreased corneal size microcornea reduced cornea size reduced corneal size small cornea small corneas MPheno.ontology MP:0031499 decreased cornea size MP:0031499 reduced average size of one or both corneas; generally refers to a congenital defect HP:0000482 https://orcid.org/0000-0002-6490-7723 increased average size of one or both corneas 2023-07-20T10:25:39Z enlarged cornea enlarged corneas increased corneal size large cornea large corneas macrocornea megalocornea MPheno.ontology MP:0031500 increased cornea size MP:0031500 increased average size of one or both corneas https://orcid.org/0000-0002-6490-7723 any anomaly in the characteristic surface outline or contour of the mouth of an organism 2023-07-24T16:09:43Z mouth shape abnormalities MPheno.ontology MP:0031501 abnormal mouth shape MP:0031501 any anomaly in the characteristic surface outline or contour of the mouth of an organism https://orcid.org/0000-0002-6490-7723 abnormal presence of a permanently or nearly permanently opened mouth 2023-07-24T16:19:26Z gaping mouth MPheno.ontology MP:0031502 open mouth MP:0031502 abnormal presence of a permanently or nearly permanently opened mouth HP:0000194 https://orcid.org/0000-0002-6490-7723 anomaly in the size of the mouth compared to controls 2023-07-24T16:27:21Z MPheno.ontology MP:0031503 abnormal mouth size MP:0031503 anomaly in the size of the mouth compared to controls https://orcid.org/0000-0002-6490-7723 increased side-to-side or lateral distance of the mouth 2023-07-24T16:41:46Z broad mouth wide mouth MPheno.ontology MP:0031504 increased mouth width MP:0031504 increased side-to-side or lateral distance of the mouth https://orcid.org/0000-0002-6490-7723 decreased side-to-side or lateral distance of the mouth 2023-07-24T16:48:07Z narrow mouth reduced mouth width MPheno.ontology MP:0031505 decreased mouth width MP:0031505 decreased side-to-side or lateral distance of the mouth https://orcid.org/0000-0002-6490-7723 decrease in the renewal, repair, and/or regrowth of peripheral nervous system tissue following injury or disease 2023-09-19T07:29:44Z decreased PNS regeneration decreased peripheral nervous system regeneration impaired PNS regeneration reduced PNS regeneration reduced peripheral nervous system regeneration MPheno.ontology MP:0031506 impaired peripheral nervous system regeneration MP:0031506 decrease in the renewal, repair, and/or regrowth of peripheral nervous system tissue following injury or disease https://orcid.org/0000-0002-6490-7723 increase in the renewal, repair, and/or regrowth of peripheral nervous system tissue following injury or disease 2023-09-19T07:38:57Z enhanced PNS regeneration improved PNS regeneration improved peripheral nervous system regeneration increased PNS regeneration increased peripheral nervous system regeneration MPheno.ontology MP:0031507 enhanced peripheral nervous system regeneration MP:0031507 increase in the renewal, repair, and/or regrowth of peripheral nervous system tissue following injury or disease https://orcid.org/0000-0002-6490-7723 anomaly in the ability of any smooth muscle cell population associated with the vasculature to undergo expansion by cell division 2023-10-09T10:49:32Z abnormal VSMC proliferation MPheno.ontology MP:0031508 abnormal vascular smooth muscle cell proliferation MP:0031508 anomaly in the ability of any smooth muscle cell population associated with the vasculature to undergo expansion by cell division GO:1990874 https://orcid.org/0000-0002-6490-7723 decrease in the expansion rate of any vascular smooth muscle cell population by cell division 2023-10-09T11:09:26Z decreased VSMC proliferation reduced VSMC proliferation reduced vascular smooth muscle cell proliferation MPheno.ontology MP:0031509 decreased vascular smooth muscle cell proliferation MP:0031509 decrease in the expansion rate of any vascular smooth muscle cell population by cell division GO:1990874 https://orcid.org/0000-0002-6490-7723 increase in the expansion rate of any vascular smooth muscle cell population by cell division 2023-10-09T11:16:22Z elevated VSMC proliferation elevated vascular smooth muscle cell proliferation increased VSMC proliferation MPheno.ontology MP:0031510 increased vascular smooth muscle cell proliferation MP:0031510 increase in the expansion rate of any vascular smooth muscle cell population by cell division GO:1990874 https://orcid.org/0000-0002-6490-7723 overall shape of the heart is more rounded than usual, lacking a distinct apex 2023-10-17T06:38:38Z globose heart round heart rounded heart MPheno.ontology MP:0031511 globular heart MP:0031511 overall shape of the heart is more rounded than usual, lacking a distinct apex PMID:29078393 PMID:37553261 https://orcid.org/0000-0002-6490-7723 anomaly in the amount in the blood of the connecting (C) peptide that links the A and B chains in proinsulin 2023-11-13T16:45:27Z abnormal blood C-peptide level abnormal circulating connecting peptide level abnormal plasma C-peptide level abnormal serum C-peptide level MPheno.ontology MP:0031512 C-peptide provides a means to promote the efficient folding and assembly of the A and B chains of proinsulin in the endoplasmic reticulum during insulin biosynthesis; after cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing an independent indicator of insulin secretion. abnormal circulating C-peptide level MP:0031512 anomaly in the amount in the blood of the connecting (C) peptide that links the A and B chains in proinsulin HP:0030794 PMID:30252282 a reduction in the amount of the C-peptide in the blood 2023-11-13T16:56:16Z decreased blood C-peptide level reduced circulating C-peptide level decreased plasma C-peptide level decreased serum C-peptide level MPheno.ontology MP:0031513 Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion. decreased circulating C-peptide level MP:0031513 a reduction in the amount of the C-peptide in the blood https://orcid.org/0000-0002-6490-7723 an elevation in the amount of the C-peptide in the blood 2023-11-13T17:01:25Z elevated circulating C-peptide level increased blood C-peptide level increased plasma C-peptide level increased serum C-peptide level MPheno.ontology MP:0031514 Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion. increased circulating C-peptide level MP:0031514 an elevation in the amount of the C-peptide in the blood https://orcid.org/0000-0002-6490-7723 a type of transposition of the great arteries (TGA) in which the aorta is positioned to the left and front of the pulmonary artery; it is characterized by atrioventricular and ventriculoarterial discordance and usually associated with ventricular inversion due to leftward looping of the primitive heart tube 2023-12-04T08:07:29Z CCTGA L-TGA L-looped transposition of the great arteries L-transposition of the great arteries congenitally corrected TGA congenitally corrected transposition of the great arteries double discordance levo-transposition of the great arteries levotransposition of the great arteries ventricular inversion MPheno.ontology MP:0031515 L-TGA is commonly referred to as congenitally corrected TGA since the blood flows in the correct physiologic direction, resulting in normal oxygenation of the systemic venous return via the abnormally placed ventricles and great arteries. l-loop transposition of the great arteries MP:0031515 a type of transposition of the great arteries (TGA) in which the aorta is positioned to the left and front of the pulmonary artery; it is characterized by atrioventricular and ventriculoarterial discordance and usually associated with ventricular inversion due to leftward looping of the primitive heart tube HP:0031349 ISBN:978-0-12-822224-9 https://medilib.ir/uptodate/show/83229 local accumulation of fluid, plasma proteins, and leukocytes in the mitral valve 2023-12-04T09:22:22Z inflammation of the bicuspid valve left AV valve inflammation left atrioventricular valve inflammation MPheno.ontology MP:0031516 mitral valve inflammation MP:0031516 local accumulation of fluid, plasma proteins, and leukocytes in the mitral valve https://orcid.org/0000-0002-6490-7723 complete discontinuation/blockage between the ascending and descending aorta with the interruption located between the brachiocephalic (innominate) artery and the left common carotid artery 2023-12-04T09:43:27Z IAA Type C IAA type c IAA-C interrupted aortic arch type C interrupted aortic arch type c MPheno.ontology MP:0031517 interrupted aortic arch, type c MP:0031517 complete discontinuation/blockage between the ascending and descending aorta with the interruption located between the brachiocephalic (innominate) artery and the left common carotid artery https://en.wikipedia.org/wiki/Interrupted_aortic_arch https://pedecho.org/library/chd/iaa https://radiopaedia.org/articles/interrupted-aortic-arch https://www.childrensmercy.org/departments-and-clinics/heart-center/interrupted-aortic-arch/ pathologic deposition of calcium salts in one or more cusps (leaflets) of the aortic valve 2023-12-04T10:56:11Z aortic cusp calcification aortic leaflet calcification aortic valve cusp calcification aortic valve leaflet calcification calcified aortic valve cusps calcified aortic valve leaflet calcified aortic valve leaflets MPheno.ontology MP:0031518 calcified aortic valve cusp MP:0031518 pathologic deposition of calcium salts in one or more cusps (leaflets) of the aortic valve https://orcid.org/0000-0002-6490-7723 pathologic deposition of calcium salts in the aortic valve annulus 2023-12-04T11:11:19Z aortic annular calcification aortic annulus calcification aortic anulus calcification aortic valve annulus calcification aortic valve anulus calcification calcified aortic valve anulus MPheno.ontology MP:0031519 calcified aortic valve annulus MP:0031519 pathologic deposition of calcium salts in the aortic valve annulus https://orcid.org/0000-0002-6490-7723 pathologic deposition of calcium salts in one or both cusps (leaflets) of the mitral valve 2023-12-04T12:13:24Z calcified bicuspid valve cusp calcified bicuspid valve cusps calcified bicuspid valve leaflet calcified bicuspid valve leaflets calcified left AV valve cusp calcified left AV valve leaflet calcified left atrioventricular valve cusp calcified left atrioventricular valve leaflet calcified mitral valve cusps calcified mitral valve leaflet calcified mitral valve leaflets mitral cusp calcification mitral leaflet calcification mitral valve cusp calcification mitral valve leaflet calcification MPheno.ontology MP:0031520 calcified mitral valve cusp MP:0031520 pathologic deposition of calcium salts in one or both cusps (leaflets) of the mitral valve https://orcid.org/0000-0002-6490-7723 pathologic deposition of calcium salts in the mitral valve annulus 2023-12-04T12:25:05Z bicuspid valve annulus calcification bicuspid valve anulus calcification calcified bicuspid valve annulus calcified bicuspid valve anulus calcified left AV valve annulus calcified left AV valve anulus calcified left atrioventricular valve annulus calcified left atrioventricular valve anulus calcified mitral valve anulus mitral annular calcification mitral annulus calcification mitral valve annulus calcification MPheno.ontology MP:0031521 calcified mitral valve annulus MP:0031521 pathologic deposition of calcium salts in the mitral valve annulus https://orcid.org/0000-0002-6490-7723 a decrease in the total area occupied by the mitral valve 2023-12-04T12:49:31Z decreased bicuspid valve size decreased left AV valve size decreased left atrioventricular valve size decreased mitral valve size small bicuspid valve small left AV valve small left atrioventricular valve MPheno.ontology MP:0031522 small mitral valve MP:0031522 a decrease in the total area occupied by the mitral valve https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the mitral valve, typically resulting in decreased size 2023-12-04T13:17:41Z bicuspid valve hypoplasia hypoplastic bicuspid valve hypoplastic bicuspid valves hypoplastic left AV valve hypoplastic left atrioventricular valve hypoplastic mitral valve hypoplastic mitral valves left AV valve hypoplasia left atrioventricular valve hypoplasia MPheno.ontology MP:0031523 mitral valve hypoplasia MP:0031523 decrease in the number of normal cells in normal arrangement in the mitral valve, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the mitral valve, typically resulting in increased size 2023-12-04T13:24:24Z bicuspid valve hyperplasia hyperplastic bicuspid valve hyperplastic bicuspid valves hyperplastic left AV valve hyperplastic left atrioventricular valve hyperplastic mitral valve hyperplastic mitral valves left AV valve hyperplasia left atrioventricular valve hyperplasia MPheno.ontology MP:0031524 mitral valve hyperplasia MP:0031524 increase in the number of normal cells in normal arrangement in the mitral valve, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 decreased myocardium compact layer thickness in the left heart ventricle 2023-12-04T13:46:23Z thin LV myocardium compact layer thin left ventricle myocardium compact zone thin left ventricular myocardial compact layer thin left ventricular myocardial compact zone MPheno.ontology MP:0031525 thin left ventricle myocardium compact layer MP:0031525 decreased myocardium compact layer thickness in the left heart ventricle https://orcid.org/0000-0002-6490-7723 decreased myocardium compact layer thickness in the right heart ventricle 2023-12-04T13:58:52Z thin RV myocardium compact layer thin right ventricle myocardium compact zone thin right ventricular myocardial compact layer thin right ventricular myocardial compact zone MPheno.ontology MP:0031526 thin right ventricle myocardium compact layer MP:0031526 decreased myocardium compact layer thickness in the right heart ventricle https://orcid.org/0000-0002-6490-7723 a decrease in the total area occupied by the pulmonary valve 2023-12-04T14:19:02Z decreased pulmonary valve size decreased pulmonic valve size small pulmonic valve small right arterial valve small right semi-lunar valve small right semilunar valve MPheno.ontology MP:0031527 small pulmonary valve MP:0031527 a decrease in the total area occupied by the pulmonary valve https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the pulmonary valve, typically resulting in decreased size 2023-12-04T14:24:08Z hypoplastic pulmonary valve hypoplastic pulmonary valves hypoplastic pulmonic valve hypoplastic pulmonic valves pulmonic valve hypoplasia right arterial valve hypoplasia right semi-lunar valve hypoplasia right semilunar valve hypoplasia MPheno.ontology MP:0031528 pulmonary valve hypoplasia MP:0031528 decrease in the number of normal cells in normal arrangement in the pulmonary valve, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the pulmonary valve, typically resulting in increased size 2023-12-04T14:33:53Z hyperplastic pulmonary valve hyperplastic pulmonary valves hyperplastic pulmonic valve hyperplastic pulmonic valves pulmonic valve hyperplasia right arterial valve hyperplasia right semi-lunar valve hyperplasia right semilunar valve hyperplasia MPheno.ontology MP:0031529 pulmonary valve hyperplasia MP:0031529 increase in the number of normal cells in normal arrangement in the pulmonary valve, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 any anomaly in the characteristic surface outline or contour of one or both heart ventricles 2023-12-12T13:08:23Z abnormal cardiac ventricle shape abnormal cardiac ventricular shape abnormal heart ventricular shape MPheno.ontology MP:0031530 abnormal heart ventricle shape MP:0031530 any anomaly in the characteristic surface outline or contour of one or both heart ventricles https://orcid.org/0000-0002-6490-7723 less than average size of the atrioventricular node compared to controls 2023-12-12T13:44:32Z decreased AV nodal size reduced AV nodal size reduced atrioventricular node size small A-V node small AV node small atrioventricular node MPheno.ontology MP:0031531 decreased atrioventricular node size MP:0031531 less than average size of the atrioventricular node compared to controls https://orcid.org/0000-0002-6490-7723 any structural anomaly of the cardiac wall of the heart ventricles 2023-12-12T17:13:00Z abnormal heart ventricular wall morphology MPheno.ontology MP:0031532 abnormal heart ventricle wall morphology MP:0031532 any structural anomaly of the cardiac wall of the heart ventricles https://orcid.org/0000-0002-6490-7723 any structural anomaly of the cardiac wall of the heart left ventricle 2023-12-12T17:37:59Z abnormal heart LV wall morphology abnormal heart left ventricular wall morphology MPheno.ontology MP:0031533 abnormal heart left ventricle wall morphology MP:0031533 any structural anomaly of the cardiac wall of the heart left ventricle https://orcid.org/0000-0002-6490-7723 any structural anomaly of the cardiac wall of the heart right ventricle 2023-12-12T18:15:23Z abnormal heart RV wall morphology abnormal heart right ventricular wall morphology MPheno.ontology MP:0031534 abnormal heart right ventricle wall morphology MP:0031534 any structural anomaly of the cardiac wall of the heart right ventricle https://orcid.org/0000-0002-6490-7723 anomaly in the depth of the cardiac wall of the heart atria 2023-12-13T12:00:26Z abnormal atrial wall thickness abnormal heart atrial wall thickness MPheno.ontology MP:0031535 abnormal heart atrium wall thickness MP:0031535 anomaly in the depth of the cardiac wall of the heart atria https://orcid.org/0000-0002-6490-7723 decreased depth of the cardiac wall of the heart atria 2023-12-13T12:17:02Z decreased atrial wall thickness reduced atrial wall thickness reduced heart atrium wall thickness thin atrial wall MPheno.ontology MP:0031536 decreased heart atrium wall thickness MP:0031536 decreased depth of the cardiac wall of the heart atria https://orcid.org/0000-0002-6490-7723 increased depth of the cardiac wall of the heart atria 2023-12-13T12:20:59Z increased atrial wall thickness increased heart atrial wall thickness thick atrial wall MPheno.ontology MP:0031537 increased heart atrium wall thickness MP:0031537 increased depth of the cardiac wall of the heart atria https://orcid.org/0000-0002-6490-7723 presence of four cusps (leaflets) of equal or varying sizes in the aortic valve instead of three 2023-12-13T13:43:40Z QAV four-cusp aortic valve four-leaflet aortic valve MPheno.ontology MP:0031538 quadricuspid aortic valve MP:0031538 presence of four cusps (leaflets) of equal or varying sizes in the aortic valve instead of three HP:0031655 PMID:28076624 https://orcid.org/0000-0002-6490-7723 less than average dimensions of one or more of the ventricular papillary muscles 2023-12-13T14:35:42Z decreased ventricle papillary muscle size reduced papillary muscle size small papillary muscle small papillary muscles MPheno.ontology MP:0031539 decreased papillary muscle size MP:0031539 less than average dimensions of one or more of the ventricular papillary muscles https://orcid.org/0000-0002-6490-7723 greater than average dimensions of one or more of the ventricular papillary muscles 2023-12-13T14:59:52Z enlarged papillary muscle enlarged papillary muscles increased ventricle papillary muscle size MPheno.ontology MP:0031540 increased papillary muscle size MP:0031540 greater than average dimensions of one or more of the ventricular papillary muscles https://orcid.org/0000-0002-6490-7723 reduction in the average size of the sinoatrial node 2023-12-14T11:20:00Z reduced sinoatrial node size small SA node small SAN small sinoatrial node MPheno.ontology MP:0031541 decreased sinoatrial node size MP:0031541 reduction in the average size of the sinoatrial node https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the sinoatrial node, typically resulting in decreased size 2023-12-14T11:28:29Z SA node hypoplasia SAN hypoplasia hypoplastic SA node hypoplastic SAN hypoplastic sinoatrial node MPheno.ontology MP:0031542 sinoatrial node hypoplasia MP:0031542 decrease in the number of normal cells in normal arrangement in the sinoatrial node, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 anomaly in the average size of either one or both of the heart ventricles compared to the average for a particular population 2023-12-14T14:27:24Z abnormal cardiac ventricle size abnormal heart ventricular size MPheno.ontology MP:0031543 abnormal heart ventricle size MP:0031543 anomaly in the average size of either one or both of the heart ventricles compared to the average for a particular population https://orcid.org/0000-0002-6490-7723 reduced average size of one or both heart ventricles compared to the average for a particular population 2023-12-14T14:47:06Z decreased heart ventricular size reduced heart ventricle size reduced heart ventricular size small heart ventricle small heart ventricles MPheno.ontology MP:0031544 decreased heart ventricle size MP:0031544 reduced average size of one or both heart ventricles compared to the average for a particular population https://orcid.org/0000-0002-6490-7723 increase in the average size of the sinoatrial node 2023-12-15T10:29:44Z enlarged SA node enlarged SAN enlarged sinoatrial node increased SA node size MPheno.ontology MP:0031545 increased sinoatrial node size MP:0031545 increase in the average size of the sinoatrial node https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the sinoatrial node, typically resulting in increased size 2023-12-15T10:35:53Z SA node hyperplasia SAN hyperplasia hyperplastic SA node hyperplastic SAN hyperplastic sinoatrial node MPheno.ontology MP:0031546 sinoatrial node hyperplasia MP:0031546 increase in the number of normal cells in normal arrangement in the sinoatrial node, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 greater than average size of the atrioventricular node 2023-12-15T11:07:29Z enlarged A-V node enlarged AV node enlarged atrioventricular node increased AV nodal size increased AV node size MPheno.ontology MP:0031547 increased atrioventricular node size MP:0031547 greater than average size of the atrioventricular node https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the atrioventricular node, typically resulting in increased size 2023-12-15T11:12:00Z AV node hyperplasia hyperplastic A-V node hyperplastic AV node hyperplastic atrioventricular node MPheno.ontology MP:0031548 atrioventricular node hyperplasia MP:0031548 increase in the number of normal cells in normal arrangement in the atrioventricular node, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 anomaly in the progression of a heart valve over time, from its formation to the mature structure 2023-12-18T11:38:06Z abnormal cardiac valve development MPheno.ontology MP:0031549 abnormal heart valve development MP:0031549 anomaly in the progression of a heart valve over time, from its formation to the mature structure GO:0003170 https://orcid.org/0000-0002-6490-7723 anomaly in the progression of an atrioventricular valve over time, from its formation to the mature structure 2023-12-18T11:43:52Z abnormal AV valve development MPheno.ontology MP:0031550 abnormal atrioventricular valve development MP:0031550 anomaly in the progression of an atrioventricular valve over time, from its formation to the mature structure https://orcid.org/0000-0002-6490-7723 GO:0003171 anomaly in the progression of the mitral valve over time, from its formation to the mature structure 2023-12-18T11:59:50Z abnormal bicuspid valve development abnormal left AV valve development abnormal left atrioventricular valve development MPheno.ontology MP:0031551 abnormal mitral valve development MP:0031551 anomaly in the progression of the mitral valve over time, from its formation to the mature structure GO:0003174 https://orcid.org/0000-0002-6490-7723 anomaly in the progression of the tricuspid valve over time, from its formation to the mature structure 2023-12-18T12:08:37Z abnormal right AV valve development abnormal right atrioventricular valve development MPheno.ontology MP:0031552 abnormal tricuspid valve development MP:0031552 anomaly in the progression of the tricuspid valve over time, from its formation to the mature structure GO:0003175 https://orcid.org/0000-0002-6490-7723 anomaly in the progression of a semilunar valve over time, from its formation to the mature structure 2023-12-18T12:16:42Z abnormal semi-lunar valve development MPheno.ontology MP:0031553 abnormal semilunar valve development MP:0031553 anomaly in the progression of a semilunar valve over time, from its formation to the mature structure GO:1905314 https://orcid.org/0000-0002-6490-7723 anomaly in the progression of the aortic valve over time, from its formation to the mature structure 2023-12-18T12:21:56Z abnormal aortic semi-lunar valve development abnormal aortic semilunar valve development abnormal left arterial valve development abnormal left semi-lunar valve development abnormal left semilunar valve development abnormal left ventriculoarterial junction development MPheno.ontology MP:0031554 abnormal aortic valve development MP:0031554 anomaly in the progression of the aortic valve over time, from its formation to the mature structure GO:0003176 https://orcid.org/0000-0002-6490-7723 anomaly in the progression of the pulmonary valve over time, from its formation to the mature structure 2023-12-18T12:38:57Z abnormal pulmonic valve development abnormal right arterial valve development abnormal right semi-lunar valve development abnormal right semilunar valve development MPheno.ontology MP:0031555 abnormal pulmonary valve development MP:0031555 anomaly in the progression of the pulmonary valve over time, from its formation to the mature structure GO:0003177 https://orcid.org/0000-0002-6490-7723 anomaly in the progression of the sinoatrial valve over time, from its formation to the mature structure 2023-12-18T12:46:19Z MPheno.ontology MP:0031556 abnormal sinoatrial valve development MP:0031556 anomaly in the progression of the sinoatrial valve over time, from its formation to the mature structure GO:0003172 https://orcid.org/0000-0002-6490-7723 a decrease in the total area occupied by the tricuspid valve 2023-12-18T15:09:32Z decreased right AV valve size decreased right atrioventricular valve size reduced right AV valve size reduced right atrioventricular valve size small right AV valve small right atrioventricular valve MPheno.ontology MP:0031557 small tricuspid valve MP:0031557 a decrease in the total area occupied by the tricuspid valve https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the tricuspid valve, typically resulting in increased size 2023-12-18T15:18:36Z hyperplastic right AV valve hyperplastic right atrioventricular valve hyperplastic tricuspid valve right AV valve hyperplasia right atrioventricular valve hyperplasia MPheno.ontology MP:0031558 tricuspid valve hyperplasia MP:0031558 increase in the number of normal cells in normal arrangement in the tricuspid valve, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 increase in the bulk size of the tricuspid valve due to cell enlargement 2023-12-18T15:22:43Z hypertrophic right AV valve hypertrophic right atrioventricular valve hypertrophic tricuspid valve right AV valve hypertrophy right atrioventricular valve hypertrophy MPheno.ontology MP:0031559 tricuspid valve hypertrophy MP:0031559 increase in the bulk size of the tricuspid valve due to cell enlargement https://orcid.org/0000-0002-6490-7723 reduction in the concentration of the molecule composed of a glycosphingolipid (ceramide and oligosaccharide) with one or more sialic acids linked on the sugar chain 2024-01-08T09:34:08Z diminished ganglioside level reduced ganglioside level MPheno.ontology MP:0031560 decreased ganglioside level MP:0031560 reduction in the concentration of the molecule composed of a glycosphingolipid (ceramide and oligosaccharide) with one or more sialic acids linked on the sugar chain CHEBI:28892 PMID:34928329 increase in the concentration of the molecule composed of a glycosphingolipid (ceramide and oligosaccharide) with one or more sialic acids linked on the sugar chain 2024-01-08T09:56:08Z accumulation of ganglioside elevated ganglioside level MPheno.ontology MP:0031561 increased ganglioside level MP:0031561 increase in the concentration of the molecule composed of a glycosphingolipid (ceramide and oligosaccharide) with one or more sialic acids linked on the sugar chain CHEBI:28892 PMID:34928329 any anomaly in the characteristic surface outline or contour of one or both heart atria 2024-01-08T17:27:25Z abnormal cardiac atrial shape abnormal cardiac atrium shape abnormal heart atrial shape MPheno.ontology MP:0031562 abnormal heart atrium shape MP:0031562 any anomaly in the characteristic surface outline or contour of one or both heart atria https://orcid.org/0000-0002-6490-7723 increase in the bulk size of the pulmonary valve due to cell enlargement 2024-01-08T18:39:39Z hypertrophic pulmonary valve hypertrophic pulmonic valve pulmonic valve hypertrophy right arterial valve hypertrophy right semi-lunar valve hypertrophy right semilunar valve hypertrophy MPheno.ontology MP:0031563 pulmonary valve hypertrophy MP:0031563 increase in the bulk size of the pulmonary valve due to cell enlargement https://orcid.org/0000-0002-6490-7723 increase in the bulk size of the mitral valve due to cell enlargement 2024-01-08T18:51:11Z bicuspid valve hypertrophy hypertrophic bicuspid valve hypertrophic left AV valve hypertrophic left atrioventricular valve hypertrophic mitral valve left AV valve hypertrophy left atrioventricular valve hypertrophy MPheno.ontology MP:0031564 mitral valve hypertrophy MP:0031564 increase in the bulk size of the mitral valve due to cell enlargement https://orcid.org/0000-0002-6490-7723 any structural anomaly of the temporary opening (space) between the free rim of the muscular interventricular septum and the fused endocardial cushions, allowing for communication between the developing right and left heart ventricles; in normal development, the interventricular foramen closes off when the septum fuses with the endocardial cushions and bulbar ridges to form the membranous part of the interventricular septum 2024-01-09T11:31:14Z abnormal cardiac interventricular foramen morphology abnormal primary interventricular foramen morphology MPheno.ontology MP:0031565 Failure to close the interventricular foramen leads to an interventricular septal defect known as a patent interventricular foramen. abnormal heart interventricular foramen morphology MP:0031565 any structural anomaly of the temporary opening (space) between the free rim of the muscular interventricular septum and the fused endocardial cushions, allowing for communication between the developing right and left heart ventricles; in normal development, the interventricular foramen closes off when the septum fuses with the endocardial cushions and bulbar ridges to form the membranous part of the interventricular septum UBERON:0013152 https://discovery.lifemapsc.com/library/review-of-medical-embryology/chapter-120-septation-of-ventricles-truncus-arteriosus-and-conus-cordis https://ebook.sts.org/sts/view/Cardiac-and-Congenital/1864080/all/Ventricular_Septal_Defects__VSD https://embryology.med.unsw.edu.au/embryology/index.php?title=Intermediate_-_Atrial_Ventricular_Septation https://journals.sagepub.com/doi/pdf/10.1177/87564790122250507 a decrease in the total area occupied by the aortic valve 2024-01-09T12:29:00Z decreased aortic valve size reduced aortic valve size small aortic semi-lunar valve small aortic semilunar valve small left arterial valve small left semi-lunar valve small left semilunar valve small left ventriculoarterial junction MPheno.ontology MP:0031566 small aortic valve MP:0031566 a decrease in the total area occupied by the aortic valve https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in the aortic valve, typically resulting in decreased size 2024-01-09T12:35:33Z aortic semi-lunar valve hypoplasia aortic semilunar valve hypoplasia hypoplastic aortic valve left arterial valve hypoplasia left semi-lunar valve hypoplasia left semilunar valve hypoplasia left ventriculoarterial junction hypoplasia MPheno.ontology MP:0031567 aortic valve hypoplasia MP:0031567 decrease in the number of normal cells in normal arrangement in the aortic valve, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in the aortic valve, typically resulting in increased size 2024-01-09T12:40:51Z aortic semi-lunar valve hyperplasia aortic semilunar valve hyperplasia hyperplastic aortic valve left arterial valve hyperplasia left semi-lunar valve hyperplasia left semilunar valve hyperplasia left ventriculoarterial junction hyperplasia MPheno.ontology MP:0031568 aortic valve hyperplasia MP:0031568 increase in the number of normal cells in normal arrangement in the aortic valve, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 increase in the bulk size of the aortic valve due to cell enlargement 2024-01-09T12:45:12Z aortic semi-lunar valve hypertrophy aortic semilunar valve hypertrophy hypertrophic aortic valve left arterial valve hypertrophy left semi-lunar valve hypertrophy left semilunar valve hypertrophy left ventriculoarterial junction hypertrophy MPheno.ontology MP:0031569 aortic valve hypertrophy MP:0031569 increase in the bulk size of the aortic valve due to cell enlargement https://orcid.org/0000-0002-6490-7723 an increase in the total area occupied by either one or both of the atrioventricular valves 2024-01-09T13:15:06Z enlarged AV valve enlarged atrioventricular valves increased AV valve size increased atrioventricular valve size MPheno.ontology MP:0031570 enlarged atrioventricular valve MP:0031570 an increase in the total area occupied by either one or both of the atrioventricular valves https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in either one or both of the atrioventricular valves, typically resulting in increased size 2024-01-09T13:21:52Z AV valve hyperplasia hyperplastic AV valve hyperplastic AV valves hyperplastic atrioventricular valve hyperplastic atrioventricular valves MPheno.ontology MP:0031571 atrioventricular valve hyperplasia MP:0031571 increase in the number of normal cells in normal arrangement in either one or both of the atrioventricular valves, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 a decrease in the total area occupied by either one or both of the atrioventricular valves 2024-01-09T13:37:57Z decreased AV valve size decreased atrioventricular valve size reduced AV valve size reduced atrioventricular valve size small AV valve small atrioventricular valves MPheno.ontology MP:0031572 small atrioventricular valve MP:0031572 a decrease in the total area occupied by either one or both of the atrioventricular valves https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in either one or both of the atrioventricular valves, typically resulting in decreased size 2024-01-09T13:46:04Z AV valve hypoplasia hypoplastic AV valve hypoplastic AV valves hypoplastic atrioventricular valve hypoplastic atrioventricular valves MPheno.ontology MP:0031573 atrioventricular valve hypoplasia MP:0031573 decrease in the number of normal cells in normal arrangement in either one or both of the atrioventricular valves, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 an increase in the ratio of an atrioventricular valve wall thickness to the atrioventricular septum thickness 2024-01-09T13:55:36Z thick AV valve thick atrioventricular valves thickened atrioventricular valve MPheno.ontology MP:0031574 thick atrioventricular valve MP:0031574 an increase in the ratio of an atrioventricular valve wall thickness to the atrioventricular septum thickness https://orcid.org/0000-0002-6490-7723 abnormal narrowing or constriction of either one or both of the atrioventricular valves 2024-01-09T14:05:14Z AV valve stenosis stenotic AV valve stenotic atrioventricular valve stenotic atrioventricular valves MPheno.ontology MP:0031575 atrioventricular valve stenosis MP:0031575 abnormal narrowing or constriction of either one or both of the atrioventricular valves https://orcid.org/0000-0002-6490-7723 anomaly in the average size of either one or both of the heart atria compared to the average for a particular population 2024-01-09T15:54:59Z abnormal cardiac atrial size abnormal cardiac atrium size abnormal heart atrial size MPheno.ontology MP:0031576 abnormal heart atrium size MP:0031576 anomaly in the average size of either one or both of the heart atria compared to the average for a particular population https://orcid.org/0000-0002-6490-7723 reduced average size of either one or both of the heart atria compared to the average for a particular population 2024-01-09T16:12:26Z decreased cardiac atrium size decreased heart atrial size reduced heart atrial size small cardiac atrium small heart atria small heart atrium MPheno.ontology MP:0031577 decreased heart atrium size MP:0031577 reduced average size of either one or both of the heart atria compared to the average for a particular population https://orcid.org/0000-0002-6490-7723 less than average size of the heart left atrium compared to the average for a particular population 2024-01-09T16:47:54Z decreased heart left atrial size decreased left cardiac atrium size reduced heart left atrium size small heart left atrium MPheno.ontology MP:0031578 decreased heart left atrium size MP:0031578 less than average size of the heart left atrium compared to the average for a particular population https://orcid.org/0000-0002-6490-7723 less than average size of the heart right atrium compared to the average for a particular population 2024-01-09T17:09:50Z decreased heart right atrial size decreased right cardiac atrium size reduced heart right atrial size reduced heart right atrium size small heart right atrium small right cardiac atrium MPheno.ontology MP:0031579 decreased heart right atrium size MP:0031579 less than average size of the heart right atrium compared to the average for a particular population https://orcid.org/0000-0002-6490-7723 an increase in the total area occupied by either one or both of the semilunar valves 2024-01-10T12:42:17Z enlarged outflow tract valve enlarged semi-lunar valve increased outflow tract valve size increased semi-lunar valve size increased semilunar valve size MPheno.ontology MP:0031580 enlarged semilunar valve MP:0031580 an increase in the total area occupied by either one or both of the semilunar valves https://orcid.org/0000-0002-6490-7723 increase in the number of normal cells in normal arrangement in either one or both of the semilunar valves, typically resulting in increased size 2024-01-10T12:51:02Z hyperplastic outflow tract valve hyperplastic semi-lunar valve hyperplastic semilunar valve outflow tract valve hyperplasia semi-lunar valve hyperplasia MPheno.ontology MP:0031581 semilunar valve hyperplasia MP:0031581 increase in the number of normal cells in normal arrangement in either one or both of the semilunar valves, typically resulting in increased size https://orcid.org/0000-0002-6490-7723 a decrease in the total area occupied by either one or both of the semilunar valves 2024-01-10T13:01:46Z decreased semi-lunar valve size decreased semilunar valve size reduced semi-lunar valve size reduced semilunar valve size small outflow tract valve small semi-lunar valve MPheno.ontology MP:0031582 small semilunar valve MP:0031582 a decrease in the total area occupied by either one or both of the semilunar valves https://orcid.org/0000-0002-6490-7723 decrease in the number of normal cells in normal arrangement in either one or both of the semilunar valves, typically resulting in decreased size 2024-01-10T13:18:37Z hypoplastic outflow tract valve hypoplastic semi-lunar valve hypoplastic semilunar valve outflow tract valve hypoplasia semi-lunar valve hypoplasia MPheno.ontology MP:0031583 semilunar valve hypoplasia MP:0031583 decrease in the number of normal cells in normal arrangement in either one or both of the semilunar valves, typically resulting in decreased size https://orcid.org/0000-0002-6490-7723 an increase in the ratio of a semilunar valve wall thickness to its corresponding arterial wall thickness 2024-01-10T13:35:10Z increased semi-lunar valve thickness increased semilunar valve thickness thick outflow tract valve thick semi-lunar valve thickened semi-lunar valve thickened semilunar valve MPheno.ontology MP:0031584 thick semilunar valve MP:0031584 an increase in the ratio of a semilunar valve wall thickness to its corresponding arterial wall thickness https://orcid.org/0000-0002-6490-7723 abnormal narrowing or constriction of either one or both of the semilunar valves 2024-01-10T13:48:38Z outflow tract valve stenosis semi-lunar valve stenosis stenotic outflow tract valve stenotic semi-lunar valve stenotic semilunar valve MPheno.ontology MP:0031585 semilunar valve stenosis MP:0031585 abnormal narrowing or constriction of either one or both of the semilunar valves https://orcid.org/0000-0002-6490-7723 deposition of fibrous connective tissue in spaces surrounding blood vessels in the heart, often resulting from inflammation or injury 2024-01-10T14:12:56Z MPheno.ontology MP:0031586 perivascular cardiac fibrosis MP:0031586 deposition of fibrous connective tissue in spaces surrounding blood vessels in the heart, often resulting from inflammation or injury HP:0031328 https://orcid.org/0000-0002-6490-7723 https://www.jmcc-online.com/article/S0022-2828%2815%2930110-3/fulltext any anomaly in the process whose specific outcome is the progression of the pericardium over time, from its formation to the mature structure 2024-02-05T11:31:18Z abnormal pericardial development MPheno.ontology MP:0031587 abnormal pericardium development MP:0031587 any anomaly in the process whose specific outcome is the progression of the pericardium over time, from its formation to the mature structure GO:0060039 https://orcid.org/0000-0002-6490-7723 an expansion in the volume of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart 2024-02-05T12:04:35Z dilated epicardium distended visceral serous pericardium of heart distended visceral serous pericardium proper epicardial distension MPheno.ontology MP:0031588 distended epicardium MP:0031588 an expansion in the volume of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart https://orcid.org/0000-0002-6490-7723 partial or complete dissociation of the epicardium from the underlying myocardium 2024-02-05T12:19:22Z detached visceral serous pericardium of heart detached visceral serous pericardium proper epicardial detachment epicardial dissociation MPheno.ontology MP:0031589 detached epicardium MP:0031589 partial or complete dissociation of the epicardium from the underlying myocardium https://orcid.org/0000-0002-6490-7723 any anomaly in the the progression of the heart epicardium over time, from its formation to the mature structure 2024-02-05T12:39:11Z abnormal development of the visceral serous pericardium of heart abnormal epicardial development abnormal visceral serous pericardium proper development MPheno.ontology MP:0031590 abnormal epicardium development MP:0031590 any anomaly in the the progression of the heart epicardium over time, from its formation to the mature structure GO:0061032 https://orcid.org/0000-0002-6490-7723 partial or complete dissociation of the endocardium from the myocardial layer 2024-02-05T13:32:06Z detached endocardial lining endocardial detachment endocardial dissociation MPheno.ontology MP:0031591 detached endocardium MP:0031591 partial or complete dissociation of the endocardium from the myocardial layer https://orcid.org/0000-0002-6490-7723 any anomaly in the process whose specific outcome is the progression of the endocardium over time, from its formation to the mature structure 2024-02-05T13:36:20Z abnormal endocardial development MPheno.ontology MP:0031592 abnormal endocardium development MP:0031592 any anomaly in the process whose specific outcome is the progression of the endocardium over time, from its formation to the mature structure GO:0003157 https://orcid.org/0000-0002-6490-7723 reduction in the amount of the gelatinous non-cellular material present between the endothelial lining and the myocardial layer of the developing heart 2024-02-05T13:55:22Z reduced cardiac jelly amount MPheno.ontology MP:0031593 decreased cardiac jelly amount MP:0031593 reduction in the amount of the gelatinous non-cellular material present between the endothelial lining and the myocardial layer of the developing heart https://orcid.org/0000-0002-6490-7723 increase in the amount of the gelatinous non-cellular material present between the endothelial lining and the myocardial layer of the developing heart 2024-02-05T14:00:50Z expanded cardiac jelly MPheno.ontology MP:0031594 increased cardiac jelly amount MP:0031594 increase in the amount of the gelatinous non-cellular material present between the endothelial lining and the myocardial layer of the developing heart https://orcid.org/0000-0002-6490-7723 change in the timing or the number of cells in adipose tissue undergoing programmed cell death 2024-02-05T15:05:19Z MPheno.ontology MP:0031595 abnormal adipose tissue apoptosis MP:0031595 change in the timing or the number of cells in adipose tissue undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 reduction in the number of adipose tissue cells undergoing programmed cell death 2024-02-05T15:14:14Z reduced adipose tissue apoptosis MPheno.ontology MP:0031596 decreased adipose tissue apoptosis MP:0031596 reduction in the number of adipose tissue cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increase in the number of adipose tissue cells undergoing programmed cell death 2024-02-05T15:18:29Z elevated adipose tissue apoptosis MPheno.ontology MP:0031597 increased adipose tissue apoptosis MP:0031597 increase in the number of adipose tissue cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 change in the timing or the number of cells in white adipose tissue undergoing programmed cell death 2024-02-05T15:21:26Z abnormal WAT apoptosis MPheno.ontology MP:0031598 abnormal white adipose tissue apoptosis MP:0031598 change in the timing or the number of cells in white adipose tissue undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 reduction in the number of white adipose tissue cells undergoing programmed cell death 2024-02-05T15:26:42Z decreased WAT apoptosis reduced WAT apoptosis MPheno.ontology MP:0031599 decreased white adipose tissue apoptosis MP:0031599 reduction in the number of white adipose tissue cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increase in the number of white adipose tissue cells undergoing programmed cell death 2024-02-05T15:31:49Z elevated WAT apoptosis increased WAT apoptosis MPheno.ontology MP:0031600 increased white adipose tissue apoptosis MP:0031600 increase in the number of white adipose tissue cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 reduction in the accumulation of misfolded or unfolded proteins in the endoplasmic reticulum lumen in response to stimulation by genetic or environmental factors 2024-02-19T12:21:35Z decreased ER stress reduced ER stress reduced endoplasmic reticulum stress MPheno.ontology MP:0031601 decreased endoplasmic reticulum stress MP:0031601 reduction in the accumulation of misfolded or unfolded proteins in the endoplasmic reticulum lumen in response to stimulation by genetic or environmental factors https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in white adipose tissue 2024-02-19T14:42:11Z WAT inflammation MPheno.ontology MP:0031602 white adipose tissue inflammation MP:0031602 local accumulation of fluid, plasma proteins, and leukocytes in white adipose tissue https://orcid.org/0000-0002-6490-7723 local accumulation of fluid, plasma proteins, and leukocytes in brown adipose tissue 2024-02-19T14:46:47Z BAT inflammation MPheno.ontology MP:0031603 brown adipose tissue inflammation MP:0031603 local accumulation of fluid, plasma proteins, and leukocytes in brown adipose tissue https://orcid.org/0000-0002-6490-7723 a change in the likelihood that an organism will develop retinal degeneration that is progressive with age 2024-03-04T12:33:20Z altered susceptibility to age-related retinal degeneration MPheno.ontology MP:0031604 abnormal susceptibility to age-related retinal degeneration MP:0031604 a change in the likelihood that an organism will develop retinal degeneration that is progressive with age https://orcid.org/0000-0002-6490-7723 less likely than normal to develop retinal degeneration that is progressive with age 2024-03-04T12:40:14Z increased resistance to age-related retinal degeneration reduced susceptibility to age-related retinal degeneration MPheno.ontology MP:0031605 decreased susceptibility to age-related retinal degeneration MP:0031605 less likely than normal to develop retinal degeneration that is progressive with age https://orcid.org/0000-0002-6490-7723 more likely than normal to develop retinal degeneration that is progressive with age 2024-03-04T12:44:10Z decreased resistance to age-related retinal degeneration reduced resistance to age-related retinal degeneration MPheno.ontology MP:0031606 increased susceptibility to age-related retinal degeneration MP:0031606 more likely than normal to develop retinal degeneration that is progressive with age https://orcid.org/0000-0002-6490-7723 any structural anomaly of the semiautonomous, self replicating organelles in fetal and neonatal cardiomyocytes 2024-03-04T15:12:50Z abnormal cardiomyoblast mitochondria morphology abnormal cardiomyoblast mitochondrial morphology abnormal fetal cardiomyocyte mitochondria morphology abnormal foetal cardiomyocyte mitochondria morphology abnormal foetal cardiomyocyte mitochondrial morphology MPheno.ontology MP:0031607 abnormal fetal cardiomyocyte mitochondrial morphology MP:0031607 any structural anomaly of the semiautonomous, self replicating organelles in fetal and neonatal cardiomyocytes https://orcid.org/0000-0002-6490-7723 reduced size of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes 2024-03-04T15:21:22Z decreased foetal cardiomyocyte size reduced fetal cardiomyocyte size reduced foetal cardiomyocyte size small fetal cardiomyocyte small foetal cardiomyocyte MPheno.ontology MP:0031608 decreased fetal cardiomyocyte size MP:0031608 reduced size of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes https://orcid.org/0000-0002-6490-7723 increased size of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes 2024-03-04T15:27:26Z enlarged fetal cardiomyocyte enlarged foetal cardiomyocyte fetal cardiomyocyte hypertrophy foetal cardiomyocyte hypertrophy increased foetal cardiomyocyte size MPheno.ontology MP:0031609 increased fetal cardiomyocyte size MP:0031609 increased size of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes https://orcid.org/0000-0002-6490-7723 any anomaly of the number of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes 2024-03-04T17:38:51Z abnormal foetal cardiomyocyte number MPheno.ontology MP:0031610 abnormal fetal cardiomyocyte number MP:0031610 any anomaly of the number of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes https://orcid.org/0000-0002-6490-7723 decrease in the number of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes 2024-03-04T17:42:04Z decreased foetal cardiomyocyte number reduced fetal cardiomyocyte number reduced foetal cardiomyocyte number MPheno.ontology MP:0031611 decreased fetal cardiomyocyte number MP:0031611 decrease in the number of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes https://orcid.org/0000-0002-6490-7723 increase in the number of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes 2024-03-04T17:45:58Z elevated fetal cardiomyocyte number elevated foetal cardiomyocyte number increased foetal cardiomyocyte number MPheno.ontology MP:0031612 increased fetal cardiomyocyte number MP:0031612 increase in the number of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes https://orcid.org/0000-0002-6490-7723 disorganization or loss of the normal orientation and/or alignment of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes 2024-03-04T17:49:12Z foetal cardiomyocyte disarray MPheno.ontology MP:0031613 fetal cardiomyocyte disarray MP:0031613 disorganization or loss of the normal orientation and/or alignment of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes https://orcid.org/0000-0002-6490-7723 abnormal presence of fluid-filled vesicles in the cytoplasm of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes 2024-03-04T17:54:09Z foetal cardiomyocyte vacuoles vacuolated fetal cardiomyocytes vacuolated foetal cardiomyocytes MPheno.ontology MP:0031614 fetal cardiomyocyte vacuoles MP:0031614 abnormal presence of fluid-filled vesicles in the cytoplasm of the fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes https://orcid.org/0000-0002-6490-7723 less than the normal concentration of a readily converted carbohydrate reserve in any muscle tissue 2024-03-11T10:48:09Z reduced muscle glycogen level MPheno.ontology MP:0031615 decreased muscle glycogen level MP:0031615 less than the normal concentration of a readily converted carbohydrate reserve in any muscle tissue https://orcid.org/0000-0002-6490-7723 greater than the normal concentration of a readily converted carbohydrate reserve in any muscle tissue 2024-03-11T11:07:58Z elevated muscle glycogen level MPheno.ontology MP:0031616 increased muscle glycogen level MP:0031616 greater than the normal concentration of a readily converted carbohydrate reserve in any muscle tissue https://orcid.org/0000-0002-6490-7723 anomaly in the ability of any skeletal muscle cells to take in glucose 2024-03-11T13:21:03Z MPheno.ontology MP:0031617 abnormal skeletal muscle cell glucose uptake MP:0031617 anomaly in the ability of any skeletal muscle cells to take in glucose https://orcid.org/0000-0002-6490-7723 reduced ability of any skeletal muscle cells to take in glucose 2024-03-11T13:34:33Z impaired skeletal muscle cell glucose uptake reduced skeletal muscle cell glucose uptake MPheno.ontology MP:0031618 decreased skeletal muscle cell glucose uptake MP:0031618 reduced ability of any skeletal muscle cells to take in glucose https://orcid.org/0000-0002-6490-7723 increased ability of any skeletal muscle cells to take in glucose 2024-03-11T13:42:11Z enhanced skeletal muscle cell glucose uptake improved skeletal muscle cell glucose uptake MPheno.ontology MP:0031619 increased skeletal muscle cell glucose uptake MP:0031619 increased ability of any skeletal muscle cells to take in glucose https://orcid.org/0000-0002-6490-7723 any structural anomaly in the ribonucleoprotein complex found in the cytoplasm of male germ cells, composed of exceedingly thin filaments that are consolidated into a compact mass or into dense strands of varying thickness that branch to form an irregular network MPheno.ontology MP:0031620 abnormal chromatoid body morphology MP:0031620 any structural anomaly in the ribonucleoprotein complex found in the cytoplasm of male germ cells, composed of exceedingly thin filaments that are consolidated into a compact mass or into dense strands of varying thickness that branch to form an irregular network GO:0033391 https://orcid.org/0000-0002-6490-7723 decreased size of the portion of the dental pulp cavity within the crown of a tooth 2024-05-20T08:32:14Z decreased coronal pulp chamber size decreased dental pulp chamber size reduced dental pulp chamber size small coronal pulp chamber small dental pulp chambers small tooth pulp chambers MPheno.ontology MP:0031621 small dental pulp chamber MP:0031621 decreased size of the portion of the dental pulp cavity within the crown of a tooth https://orcid.org/0000-0002-6490-7723 decreased size of the portion of the dental pulp cavity within the root of a tooth 2024-05-20T09:39:54Z decreased dental pulp canal size decreased radicular pulp size reduced dental pulp canal size small dental pulp canals small pulp canals small radicular pulp small root canals small tooth pulp canals MPheno.ontology MP:0031622 small dental pulp canal MP:0031622 decreased size of the portion of the dental pulp cavity within the root of a tooth https://orcid.org/0000-0002-6490-7723 any functional anomaly of the hard or soft tissues of the skeletal element within the mouth that is composed of dentine and used to procure or masticate food 2024-05-20T11:04:54Z abnormal tooth function MPheno.ontology MP:0031623 abnormal tooth physiology MP:0031623 any functional anomaly of the hard or soft tissues of the skeletal element within the mouth that is composed of dentine and used to procure or masticate food https://orcid.org/0000-0002-6490-7723 change in the timing or the number of cells in dental pulp tissue undergoing programmed cell death 2024-05-20T11:34:47Z MPheno.ontology MP:0031624 abnormal dental pulp cell apoptosis MP:0031624 change in the timing or the number of cells in dental pulp tissue undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 reduction in the number of dental pulp cells undergoing programmed cell death 2024-05-20T11:47:30Z reduced dental pulp cell apoptosis MPheno.ontology MP:0031625 decreased dental pulp cell apoptosis MP:0031625 reduction in the number of dental pulp cells undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increase in the number of dental pulp cells undergoing programmed cell death 2024-05-20T11:54:55Z elevated dental pulp cell apoptosis MPheno.ontology MP:0031626 increased dental pulp cell apoptosis MP:0031626 increase in the number of dental pulp cells undergoing programmed cell death PMID:38105557 https://orcid.org/0000-0002-6490-7723 any anomaly in the physiological processes involved in the act of sexual union that normally enables the transfer of ejaculate (sperm) from male to female 2024-06-05T09:14:51Z abnormal copulatory physiology MPheno.ontology MP:0031627 abnormal copulation physiology MP:0031627 any anomaly in the physiological processes involved in the act of sexual union that normally enables the transfer of ejaculate (sperm) from male to female https://orcid.org/0000-0002-6490-7723 any anomaly in the insertion or period of insertion of the penis into the vagina in copulation 2024-06-05T10:31:17Z abnormal intravaginal penile insertion abnormal intravaginal penis insertion MPheno.ontology MP:0031628 abnormal intromission MP:0031628 any anomaly in the insertion or period of insertion of the penis into the vagina in copulation PMID:3593827 PMID:9037078 https://www.merriam-webster.com/dictionary/intromission any anomaly in the behavior during which a male typically climbs onto a female adopting a position that facilitates copulation; in mammals, mounting usually consists of a male's standing on his hindlegs and grasping a female's flanks from behind 2024-06-05T10:58:06Z abnormal mounting behaviour MPheno.ontology MP:0031629 In rodents, the male assumes a copulatory position that is dorsally and from the rear. Mounting is mostly associated with thrusting motions of the hindquarters (pelvic thrusts). During mounting, the male lifts his forebody over the female hindquarters, clasping her flanks with its forepaws while keeping its hindlegs on the floor, and begins a series of rapid shallow movements of the pelvis without achieving penetration. Mounting may or may not result in intromission. abnormal mounting behavior MP:0031629 any anomaly in the behavior during which a male typically climbs onto a female adopting a position that facilitates copulation; in mammals, mounting usually consists of a male's standing on his hindlegs and grasping a female's flanks from behind ISBN:9780128132524 http://ndl.ethernet.edu.et/bitstream/123456789/718/1/66.pdf.pdf In rodents, the male assumes a copulatory position that is dorsally and from the rear. Mounting is mostly associated with thrusting motions of the hindquarters (pelvic thrusts). During mounting, the male lifts his forebody over the female hindquarters, clasping her flanks with its forepaws while keeping its hindlegs on the floor, and begins a series of rapid shallow movements of the pelvis without achieving penetration. Mounting may or may not result in intromission. PMID:37324524 aberrant amount in the lung of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues 2024-06-10T10:21:46Z abnormal pulmonary cholesterol level MPheno.ontology MP:0031630 abnormal lung cholesterol level MP:0031630 aberrant amount in the lung of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues https://orcid.org/0000-0002-6490-7723 less than normal amount in the lung of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues 2024-06-10T10:35:18Z decreased pulmonary cholesterol level reduced lung cholesterol level reduced pulmonary cholesterol level MPheno.ontology MP:0031631 decreased lung cholesterol level MP:0031631 less than normal amount in the lung of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues https://orcid.org/0000-0002-6490-7723 greater than normal amount in the lung of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues 2024-06-10T10:41:43Z elevated lung cholesterol level elevated pulmonary cholesterol level increased pulmonary cholesterol level MPheno.ontology MP:0031632 increased lung cholesterol level MP:0031632 greater than normal amount in the lung of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues PMID:37890669 https://orcid.org/0000-0002-6490-7723 reduced ability of the heart left ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume 2024-06-10T11:54:37Z decreased left ventricle muscle contractility decreased left ventricular muscle contractility impaired left ventricle muscle contractility reduced left ventricle muscle contractility decreased left ventricular ejection fraction MPheno.ontology MP:0031633 decreased heart left ventricle muscle contractility MP:0031633 reduced ability of the heart left ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume https://orcid.org/0000-0002-6490-7723 reduced ability of the heart right ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume 2024-06-10T12:44:11Z decreased right ventricle muscle contractility decreased right ventricular muscle contractility impaired right ventricle muscle contractility reduced right ventricle muscle contractility decreased right ventricular ejection fraction MPheno.ontology MP:0031634 decreased heart right ventricle muscle contractility MP:0031634 reduced ability of the heart right ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume https://orcid.org/0000-0002-6490-7723 greater than the normal ability of the heart left ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume 2024-06-10T16:29:43Z enhanced left ventricle muscle contractility increased left ventricle muscle contractility increased left ventricular muscle contractility increased left ventricular ejection fraction MPheno.ontology MP:0031635 increased heart left ventricle muscle contractility MP:0031635 greater than the normal ability of the heart left ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume https://orcid.org/0000-0002-6490-7723 greater than the normal ability of the heart right ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume 2024-06-10T16:46:35Z enhanced right ventricle muscle contractility increased right ventricle muscle contractility increased right ventricular muscle contractility increased right ventricular ejection fraction MPheno.ontology MP:0031636 increased heart right ventricle muscle contractility MP:0031636 greater than the normal ability of the heart right ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume https://orcid.org/0000-0002-6490-7723 excretion of excessive amounts of methionine in the urine 2024-07-01T09:47:28Z increased urinary methionine level increased urine methionine level MPheno.ontology MP:0031637 methioninuria MP:0031637 excretion of excessive amounts of methionine in the urine HP:0032352 anomaly in the amount of alanine, an alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2 2024-07-01T10:52:06Z abnormal 2-aminopropanoic acid level MPheno.ontology MP:0031638 abnormal alanine level MP:0031638 anomaly in the amount of alanine, an alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2 CHEBI:16449 https://orcid.org/0000-0002-6490-7723 reduction in the amount of alanine, an alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2 2024-07-01T10:56:22Z decreased 2-aminopropanoic acid level reduced 2-aminopropanoic acid level reduced alanine level MPheno.ontology MP:0031639 decreased alanine level MP:0031639 reduction in the amount of alanine, an alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2 CHEBI:16449 https://orcid.org/0000-0002-6490-7723 increase in the amount of alanine, an alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2 2024-07-01T11:00:57Z elevated 2-aminopropanoic acid level elevated alanine level increased 2-aminopropanoic acid level MPheno.ontology MP:0031640 increased alanine level MP:0031640 increase in the amount of alanine, an alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2 CHEBI:16449 https://orcid.org/0000-0002-6490-7723 excretion of excessive amounts of alanine in the urine 2024-07-01T11:26:52Z increased urinary alanine level increased urine alanine level MPheno.ontology MP:0031641 alaninuria MP:0031641 excretion of excessive amounts of alanine in the urine HP:0020078 https://orcid.org/0000-0002-6490-7723 excretion of excessive amounts of phenylalanine in the urine 2024-07-01T11:32:34Z increased urinary phenylalanine level increased urine phenylalanine level MPheno.ontology MP:0031642 phenylalaninuria MP:0031642 excretion of excessive amounts of phenylalanine in the urine HP:0032351 https://orcid.org/0000-0002-6490-7723 change in the timing or the number of adult cardiomyocytes undergoing programmed cell death 2024-07-01T16:24:07Z abnormal adult cardiomyocyte apoptosis abnormal myocardial fibre apoptosis MPheno.ontology MP:0031643 abnormal myocardial fiber apoptosis MP:0031643 change in the timing or the number of adult cardiomyocytes undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 reduction in the number of adult cardiomyocytes undergoing programmed cell death 2024-07-01T16:30:05Z decreased adult cardiomyocyte apoptosis decreased myocardial fibre apoptosis reduced adult cardiomyocyte apoptosis reduced myocardial fiber apoptosis reduced myocardial fibre apoptosis MPheno.ontology MP:0031644 decreased myocardial fiber apoptosis MP:0031644 reduction in the number of adult cardiomyocytes undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 increase in the number of adult cardiomyocytes undergoing programmed cell death 2024-07-01T16:33:40Z elevated adult cardiomyocyte apoptosis elevated myocardial fiber apoptosis elevated myocardial fibre apoptosis increased adult cardiomyocyte apoptosis increased myocardial fibre apoptosis MPheno.ontology MP:0031645 increased myocardial fiber apoptosis MP:0031645 increase in the number of adult cardiomyocytes undergoing programmed cell death https://orcid.org/0000-0002-6490-7723 persistent or recurrent inability to develop or to maintain a penile erection during sexual activity 2024-07-08T11:58:29Z erectile dysfunction absence of penile erection erectile impotence failure of penile erection male sexual impotence MPheno.ontology MP:0031646 impotence MP:0031646 persistent or recurrent inability to develop or to maintain a penile erection during sexual activity HP:0000802 https://www.ncbi.nlm.nih.gov/books/NBK562253/ any deviation from the normal concentration of glucose in the cerebrospinal fluid 2024-07-22T13:40:43Z abnormal CSF glucose concentration abnormal CSF glucose level abnormal cerebrospinal fluid glucose concentration MPheno.ontology MP:0031647 abnormal cerebrospinal fluid glucose level MP:0031647 any deviation from the normal concentration of glucose in the cerebrospinal fluid HP:0031884 less than the normal concentration of glucose in the cerebrospinal fluid 2024-07-22T13:46:49Z decreased CSF glucose concentration decreased CSF glucose level hypoglycorrhachia reduced CSF glucose level reduced cerebrospinal fluid glucose level MPheno.ontology MP:0031648 decreased cerebrospinal fluid glucose level MP:0031648 less than the normal concentration of glucose in the cerebrospinal fluid HP:0011972 PMID:31399478 greater than the normal concentration of glucose in the cerebrospinal fluid 2024-07-22T13:51:43Z elevated CSF glucose level elevated cerebrospinal fluid glucose level hyperglycorrhachia increased CSF glucose concentration increased CSF glucose level MPheno.ontology MP:0031649 increased cerebrospinal fluid glucose level MP:0031649 greater than the normal concentration of glucose in the cerebrospinal fluid HP:0031885 a decreased display, frequency, or duration of mounting activity, with or without pelvic thrusting and intromission, occurring prior to ejaculation 2024-07-22T16:49:05Z decreased mounting behaviour reduced mounting behavior reduced mounting behaviour MPheno.ontology MP:0031650 decreased mounting behavior MP:0031650 a decreased display, frequency, or duration of mounting activity, with or without pelvic thrusting and intromission, occurring prior to ejaculation https://orcid.org/0000-0002-6490-7723 an increased display, frequency, or duration of mounting activity, with or without pelvic thrusting and intromission, occurring prior to ejaculation 2024-07-22T16:52:43Z elevated mounting behavior elevated mounting behaviour increased mounting behaviour MPheno.ontology MP:0031651 increased mounting behavior MP:0031651 an increased display, frequency, or duration of mounting activity, with or without pelvic thrusting and intromission, occurring prior to ejaculation https://orcid.org/0000-0002-6490-7723 any anomaly in the amount of calcium present in the brain tissue 2024-09-09T07:14:12Z MPheno.ontology MP:0031652 abnormal brain calcium level MP:0031652 any anomaly in the amount of calcium present in the brain tissue https://orcid.org/0000-0002-6490-7723 a reduced amount of calcium in brain tissue compared to controls 2024-09-09T07:23:10Z reduced brain calcium level MPheno.ontology MP:0031653 decreased brain calcium level MP:0031653 a reduced amount of calcium in brain tissue compared to controls https://orcid.org/0000-0002-6490-7723 an increased amount of calcium in brain tissue compared to controls 2024-09-09T07:29:34Z elevated brain calcium level MPheno.ontology MP:0031654 increased brain calcium level MP:0031654 an increased amount of calcium in brain tissue compared to controls https://orcid.org/0000-0002-6490-7723 any anomaly in the amount of magnesium present in the brain tissue 2024-09-09T07:41:27Z MPheno.ontology MP:0031655 abnormal brain magnesium level MP:0031655 any anomaly in the amount of magnesium present in the brain tissue https://orcid.org/0000-0002-6490-7723 a reduced amount of magnesium in brain tissue compared to controls 2024-09-09T07:46:02Z reduced brain magnesium level MPheno.ontology MP:0031656 decreased brain magnesium level MP:0031656 a reduced amount of magnesium in brain tissue compared to controls https://orcid.org/0000-0002-6490-7723 an increased amount of magnesium in brain tissue compared to controls 2024-09-09T07:52:57Z elevated brain magnesium level MPheno.ontology MP:0031657 increased brain magnesium level MP:0031657 an increased amount of magnesium in brain tissue compared to controls https://orcid.org/0000-0002-6490-7723 reduction in the concentration of magnesium in the body 2024-09-09T08:01:32Z reduced magnesium level MPheno.ontology MP:0031658 decreased magnesium level MP:0031658 reduction in the concentration of magnesium in the body https://orcid.org/0000-0002-6490-7723 increase in the concentration of magnesium in the body 2024-09-09T08:16:49Z elevated magnesium level MPheno.ontology MP:0031659 increased magnesium level MP:0031659 increase in the concentration of magnesium in the body https://orcid.org/0000-0002-6490-7723 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms, prior to the completion of heart atrial septation (Mus: E14.5-15.5) 2024-09-30T07:49:40Z partial prenatal lethality prior to heart atrial septation MPheno.ontology MP:0031660 prenatal lethality prior to heart atrial septation, incomplete penetrance MP:0031660 the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms, prior to the completion of heart atrial septation (Mus: E14.5-15.5) https://orcid.org/0000-0002-6490-7723 death of all organisms of a given genotype in a population prior to the completion of heart atrial septation (Mus: E14.5-15.5) 2024-09-30T07:55:31Z complete prenatal lethality prior to heart atrial septation MPheno.ontology MP:0031661 prenatal lethality prior to heart atrial septation, complete penetrance MP:0031661 death of all organisms of a given genotype in a population prior to the completion of heart atrial septation (Mus: E14.5-15.5) https://orcid.org/0000-0002-6490-7723 any structural anomaly of the pear shaped trilaminar embryonic stage in which the primititve streak elongates, the epiblast cells migrate medially towards the streak, enter the primitive groove and migrate laterally to organize into the intraembryonic mesoderm (epithelio-mesenchymal transition) between the embryonic ectoderm and primitive endoderm; the notochordal process forms and extends, and the disc becomes pear shaped as the notochordal process grows csmith 2014-06-26T15:11:51Z abnormal trilaminar blastocyst morphology abnormal trilaminar embryonic disc morphology abnormal trilaminar embryonic disk morphology abnormal trilaminar germ disc morphology abnormal trilaminar germ disk morphology MPheno.ontology abnormal trilaminar disc morphology abnormal trilaminar disk morphology MP:3000001 abnormal gastrula morphology MP:3000001 any structural anomaly of the pear shaped trilaminar embryonic stage in which the primititve streak elongates, the epiblast cells migrate medially towards the streak, enter the primitive groove and migrate laterally to organize into the intraembryonic mesoderm (epithelio-mesenchymal transition) between the embryonic ectoderm and primitive endoderm; the notochordal process forms and extends, and the disc becomes pear shaped as the notochordal process grows http://discovery.lifemapsc.com/library/review-of-medical-embryology/chapter-18-week-3-of-development-trilaminar-germ-disk-embryo-formation-and-gastrulation Any structural anomaly of a skull. nvasilevsky 2014-07-01T01:03:12Z MPheno.ontology MP:3000002 obsolete abnormal skull morphology true MP:3000002 Any structural anomaly of a skull. GOC:TermGenie any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete lingual lipase initiating the process of lipid hydrolysis in the mouth and empty their serous secretion into the base of the moats around the foliate and circumvallate papillae; their secretion presumably flushes material from the moat to enable the taste buds to respond rapidly to changing stimuli. csmith 2014-12-04T20:40:06Z abnormal Von Ebner's gland morphology abnormal gustatory gland morphology posterior deep lingual gland posterior lingual serous gland MPheno.ontology MP:3000003 abnormal Ebner's gland morphology MP:3000003 any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete lingual lipase initiating the process of lipid hydrolysis in the mouth and empty their serous secretion into the base of the moats around the foliate and circumvallate papillae; their secretion presumably flushes material from the moat to enable the taste buds to respond rapidly to changing stimuli. GOC:TermGenie https://orcid.org/0000-0002-6490-7723 any structural anomaly of the translucent fold of the mucous membrane of the conjunctiva present in some animals that can be drawn across the eye for protection and to moisten it while maintaining visibility; in many mammals, a small, vestigial portion of the membrane remains in the corner of the eye; in mice, the nictitating membrane is very small and composed of a very thin core of cartilage covered by loose connective tissue csmith 2014-12-04T20:44:25Z abnormal nictitans morphology abnormal palperbra tertia morphology abnormal third eyelid morphology MPheno.ontology MP:3000004 abnormal nictitating membrane morphology MP:3000004 any structural anomaly of the translucent fold of the mucous membrane of the conjunctiva present in some animals that can be drawn across the eye for protection and to moisten it while maintaining visibility; in many mammals, a small, vestigial portion of the membrane remains in the corner of the eye; in mice, the nictitating membrane is very small and composed of a very thin core of cartilage covered by loose connective tissue GOC:TermGenie https://orcid.org/0000-0002-6490-7723 any structural anomaly of the upper dilated end of the nasolacrimal duct that is lodged in a deep groove formed by the lacrimal bone and frontal process of the maxilla; it connects the lacrimal canaliculi, which drain tears from the eye's surface, and the nasolacrimal duct, which conveys this fluid into the nasal cavity; like the nasolacrimal duct, the sac is lined by stratified columnar epithelium with mucus-secreting goblet cells, and is surrounded by connective tissue csmith 2014-12-04T20:44:33Z abnormal lacrymal sac morphology abnormal saccus lacrimalis morphology MPheno.ontology MP:3000005 abnormal lacrimal sac morphology MP:3000005 any structural anomaly of the upper dilated end of the nasolacrimal duct that is lodged in a deep groove formed by the lacrimal bone and frontal process of the maxilla; it connects the lacrimal canaliculi, which drain tears from the eye's surface, and the nasolacrimal duct, which conveys this fluid into the nasal cavity; like the nasolacrimal duct, the sac is lined by stratified columnar epithelium with mucus-secreting goblet cells, and is surrounded by connective tissue GOC:TermGenie https://orcid.org/0000-0002-6490-7723 2025-05-22 Alicia Valenzuela Anna Anagnostopolous Christopher Mungall Eisuke Dohi Georgios V. Gkoutos Hiroshi Masuya Howard Dene Melissa Berry Michelle Knowlton Nicole Vasilevsky Paul Schofield Tatsuya Kushida Terue Takatsuki Toyofumi Fujiwara Carroll W. Goldsmith Cynthia L. Smith Janan T. Eppig Susan Bello The Mammalian Phenotype Ontology is being developed by Cynthia L. Smith, Susan M. Bello, Anna, Anagnostopoulos, Carroll W. Goldsmith and Janan T. Eppig, as part of the Mouse Genome Database (MGD) Project, Mouse Genome Informatics (MGI), The Jackson Laboratory, Bar Harbor, ME. This file contains pre-coordinated phenotype terms, definitions and synonyms that can be used to describe mammalian phenotypes. The ontology is represented as a directed acyclic graph (DAG). It organizes phenotype terms into major biological system headers such as nervous system and respiratory system. This ontology is currently under development. Weekly updates are available at the Mouse Genome Informatics (MGI) ftp site (ftp://ftp.informatics.jax.org/pub/reports/index.html#pheno) as well as the OBO Foundry site (http://obofoundry.org/). Japanese labels of MP were created by the MP Japanese Translation Project (https://github.com/dbcls/MP_Japanse). Questions, comments and suggestions are welcome, and should be directed to pheno@jax.org, Susan.Bello@jax.org or to GitHub tracker (https://github.com/mgijax/mammalian-phenotype-ontology/issues) MGD is funded by NIH/NHGRI grant HG000330. English The Mammalian Phenotype Ontology MPheno.ontology 1.2 The Mammalian Phenotype Ontology Copyright © 2007, 2008, 2011, 2012, 2015, 2024 by The Jackson Laboratory. 2025-05-22