An alias in which the alias exhibits true synonymy. Example: ornithine cycle is an exact synonym of urea cycle.
A source from where the formal description was derived. This can be in the form of a link to a relevant webpage, the IRI of a term in an existing ontology, a reference to specific literature, etc.
A database cross-reference. An annotation which directs one to information contained within a database.
An indication of whether a term/class already exists in other ontologies. Only used for term (descriptions) that were not taken directly from an existing ontology.
Annotation options: Negligable Not relevant to context of sickle cell Few but definitions not freely available Suggest update to description Suggest update to label None
An administrative note of use for a curator but of no use for a user.
An alias in which the alias exhibits outdated or deprecated synonymy.
SCDO requested inclusion of this property into RO. Update details here again after inclusion.
A relation between a measurement and a plan specification for obtaining the measurement that has sufficient level of detail and quantitative information to communicate it between investigation agents, so that different investigation agents will reliably be able to independently reproduce the process.
A relationship that holds between a condition such as a disease (hemoglobinopathy) and a phenotype (i.e. manifestation), where the phenotype is evidence of the condition.
A relationship between a condition and a gene where the gene contains one or more genetic variations that contribute to the condition.
gene carrying contributing genetic variation
A relationship between a gene and a gene product where the gene participates in some gene expression process (GO:0010467) where the output of that process is the gene product.
A relationship between a gene and a genetic variation, where the gene carries the genetic variation.
Suggest update to description in SCDO SCDO to suggest inclusion of property into RO. Update annotations at a later stage if necessary.
A relationship between an entity and another entity, where the second entity has a causal role for the first entity.
A relation between a condition (disease or phenotype) or an entity (molecular phenotype) and a genetic variation (e.g. mutation or genetic recombination), where the genetic variation has some causal or contributing role that influences the condition or entity.
has causal or contributing genetic variation
A relation between a condition (hemoglobinopathy) and the genotype that causes the condition.
A relation between a condition (disease such as a Hemoglobinopathy) and a molecular phenotype, where the molecular phenotype is evidence of the condition.
A relation between an entity (genotype) and a molecular phenotype, where the entity has some causal or contributing role that influences the molecular phenotype.
causes or contributes to molecular phenotype
SCDO to suggest inclusion of property into RO. Update annotations at a later stage if necessary.
A relation between a genotype and a molecular phenotype, where the genotype has a causal role for the molecular phenotype.
A relationship between an entity (e.g. genetic variation such as mutation or specific allele) and a genotype, where the entity contributes to the genotype.
A relationship between an entity and another entity, where the first entity has the potential to cause the second entity.
A condition (phenotype or disease) or event (adverse event) induced by an entity (e.g. a drug) or activity (e.g. exercise).
A relation between a condition (disease or phenotype) and an aspect of an individual's life (personal attribute), behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of the condition.
A relationship between an entity and another entity where the first entity is connected with the second in some way.
A relation between a particular genotype or disorder and the pattern in which the particular genotype or disorder is passed from one generation to the next.
A relation between a phenotype that is a diagnosis and a diagnostic tool used in making the diagnosis.
A relation between a condition that is a diagnosis and a phenotype used in making the diagnosis.
A relation between a diagnostic tool and the diagnostic measurement that it measures.
A relation between a diagnostic tool (test, method, assay, etc.) and a diagnostic device, where the diagnostic device is used in the application of the diagnostic tool.
A relation between a device (diagnostic device) and the recording of the output (diagnostic measurement) of the device.
A relation between a condition (phenotype or disease) and a type of treatment or a specific treatment, where the condition can be treated with the treatment.
A relation between a process (e.g. a form of therapy) and a medical device, where the medical device is used in the process.
A relationship that holds between a phenotype (i.e. manifestation) and a condition such as a disease (hemoglobinopathy), wherein the phenotype is evidence of the condition.
A relationship between a gene and a condition where the gene contains one or more genetic variations that contribute to the condition.
carries genetic variation contributing to
Needs additional reviewing before change suggested to RO. Suggest update to description in RO.
A relationship between a gene product and a gene where the gene participates in some gene expression process (GO:0010467) where the output of that process is the gene product.
A relationship between a gene variation and a gene, where the genetic variation is carried on the gene.
A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the entity has some causal or contributing role that influences the condition.
A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the entity has some causal role for the condition.
A relation between a genotype and a genetic variation (e.g. mutation or genetic recombination), where the genetic variation contributes to the genotype.
A relation between an aspect of an individual's life (personal attribute), behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a condition and the condition (disease or phenotype) that it increases the likelihood of.
A relationship between a diagnostic measurement and the diagnostic tool used to produce the measurement.
A relationship between a diagnostic device and the diagnostic tool by which the device is used.
A relation between a diagnostic measurement and a diagnostic device, where the diagnostic measurement is the output of the diagnostic device.
A relation between a type of treatment or a specific treatment and a condition (phenotype or disease), where the type of treatment or specific treatment treat the condition.
A relationship between 'a' and 'b', where 'a' has some causal role for 'b'.
A relationship between a condition (phenotype or disease), contributing cause of condition, entity (aspect of quality of life) or process (therapy) and a modifier, where the condition, contributing cause of condition, entity, or process is modified by the modifier in some way.
A relationship between a modifier and a condition (phenotype or disease) or contributing cause of a condition, entity (aspect of quality of life) or process (therapy), where the modifier modifies the condition or cause of condition, entity, or process in some way.
Used as annotation property in SCDO. Suggest inclusion of "Age of Onset" class and use of this property as an object property.
A relation between a disease and the age, developmental stage, or period of life at which the disease or the initial symptoms or manifestations of the disease usually appear in individuals.
A relation between a disease and the manner in which the initial symptoms or manifestations of the disease usually appear in individuals.
A relation used to describe a context or conditions that define and/or identify an entity.
Suggest inclusion of this property in the SCDO and suggest they use (as we have done) their initial description of "caused or contributed to by"
A relationship between a condition (a phenotype or disease) and an entity (a genotype or genetic variation or other cause) where the entity has a causal role for the condition.
A relation between a genetic variation (e.g. mutation or genetic recombination) and a condition (disease or phenotype), where the genetic variation has some causal or contributing role that influences the condition.
genetic variation causes or contributes to condition
A relation between a molecular phenotype and a genetic variation (e.g. mutation or genetic recombination), where the genetic variation has some causal or contributing role that influences the molecular phenotype.
molecular phenotype has causal or contributing genetic variation
A relation between a condition and a genetic variation (e.g. mutation or genetic recombination), where the genetic variation has some causal or contributing role that influences the condition.
condition has causal or contributing genetic variation
The root of all terms in the Hearing Impairment Ontology, an effort to unambiguously describe all concepts and unifying up-to-date knowledge in hearing impairment.
Suggest update to description in the HPO. The new description also encompasses conductive hearing impairment whereby the problem is not the perception of sound but the transmission of sound from the outer environment to the inner ear.
A decreased perception and/or transmission of sound.
Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing.
A (combination of) quality(ies) of an organism determined by the interaction of its genetic make-up and environment that differentiates specific instances of a species from other instances of the same species.
A functional unit of heredity which occupies a specific position on a particular chromosome and serves as the template for a product that contributes to a phenotype or a biological function.
Hearing loss due to disease of the auditory pathways (in the central nervous system) which originate in the cochlear nuclei of the pons and then ascend bilaterally to the midbrain, the thalamus, and then the auditory cortex in the temporal lobe. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral brain stem lesions involving the cochlear nuclei may result in unilateral hearing loss.
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Inner and Outer or Middle Ear Hearing Impairment
A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.
Populate with sub-classes of "nonsyndromic deafness" in DO. See dc:source. but use Uniprot, Human Diseases, to write appropriate descriptions.
A form of hearing impairment that is not associated with visible abnormalities of the external ear or other signs and symptoms and can be associated with abnormalities of the middle ear and/or inner ear
Hearing impairment that is usually associated with malformations of the external ear and/or other inherited signs and symptoms.
A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.
A syndrome characterised by congenital sensorineural hearing impairment that presents as mild to moderate hearing impairment at low frequencies and severe to profound hearing impairment at higher frequencies. Patients experience adolsescent or adult onset progressive vision loss due to retinitis pigmentosa but do not present vestibular dysfunction
A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life.
A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition.
An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation.
Researchers estimate that BOR/BO syndrome affects about 1 in 40,000 people. Mutations in three genes, EYA1, SIX1, and SIX5, have been reported in people with BOR/BO syndrome. About 40 percent of people with this condition have a mutation in the EYA1 gene.
A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.
A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.
A genetic syndrome usually inherited as an X-link trait. It is caused by mutations in the COL4A3, COL4A4, or COL4A5 genes. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities.
Cardioauditory Syndrome of Jervell and Lange Nielsen
Cardioauditory Syndrome of Jervell and Lange-Nielsen
Jervell-Lange Nielsen Syndrome; Cardio-Auditory Syndrome
An autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias.
It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).
Mandibulofacial Dysostosis without Limb Anomalies
A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures.
A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.
Gonodal Dysgenesis, XX Type, with Deafness
An autosomal recessive disease that is characterized by sensorineural hearing loss and ovarian failure.
A rare, X-linked recessive inherited syndrome caused by mutations in the NPD gene. It is characterized by developmental retinal abnormalities that result in blindness in male infants at birth or soon after birth. Additional manifestations include progressive hearing loss and developmental motor skills delays.
Coloboma Heart Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities; and Ear Malformations (CHARGE) Association
Coloboma, Heart Defects, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Anomalies Association
A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities.
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract Syndrome
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract Syndrome (Disorder)
A slowly progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that becomes evident during the third decade of life. The syndrome has been described in three patients from a consanguineous family (one brother, one sister and a male cousin). The disease manifests during childhood with pes cavus and tendo-achilles contractures. A disorder of gait, due to ataxia and spasticity, develops during adulthood. Contrarily to Refsum disease, plasmatic phytanic and pristanic acid levels as well as alpha-oxidation enzymatic activity are normal. Transmission is autosomal recessive. The disease was mapped on chromosome 20 (20p11.21-q12).
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC) Syndrome
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness
Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome
Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).
An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1.
An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24.
Suggest update to description in Orphanet. We have removed part of the description and put it in a comment.
A rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy.
Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.
The link to OMIM does not work, but it is sited by other ontologies too.
An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome.
Disease, Disorder, or Syndrome Associated with Hearing Loss
Term too specific to HIO to be requested for inclusion in other ontologies.
A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition (a syndrome) or a material entity which is clinically abnormal and part of an extended organism (disorder), or a definite pathologic process with a characteristic set of signs and symptomsa (a disease) that's presence has been associated with the occurrence of hearing impairment.
Disease, Disorder or Syndrome Associated with Hearing Impairment
The biological processes, properties, and objects that are involved in maintaining, expressing, and transmitting from one organism to another, genetically encoded traits.
SCDO to request update to description in NCIT. Update at a later stage if necessary.
Deviation(s) in the nucleotide sequence of the genetic material of an individual from that typical of the group to which the individual belongs, or deviation(s) in the nucleotide sequence of the genetic material of offspring from that of its parents.
SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
Diagnostic tools (including the instruments, laboratory assays and methods of patient examination) used for differential diagnosis, the measurements obtained using these tools, and the diagnostic devices used in obtaining the measurements.
Procedures, agents or devices concerned with the remedial treatment or prevention of diseases.
A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops.
An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves.
Is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.
Autosomal Dominant Dilated Cardiomyopathy with Sensorineural Hearing Loss
Cardiomyopathy, Dilated, with Sensorineural Hearing Loss, Autosomal Dominant
Neurosensory Hearing Loss with Dilated Cardiomyopathy
Sensorineural Deafness with Dilated Cardiomyopathy
Sensorineural Hearing Loss with Dilated Cardiomyopathy
Suggest update to description in MONDO, by removing the name of the term from the start of the description. Positioning of this term still up for discussion...perhaps should be moved below "Syndromic Hearing Impairment"?
An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.
A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2.
An autosomal dominant disorder caused by mutation(s) of the MYH9 gene, encoding myosin-9. Clinical features include thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, and may be associated with other organ dysfunction. It comprises the Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, and Sebastian syndrome-- all of which were previously believed to be distinct entities.
Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss
Dohle Leukocyte Inclusions with Giant Platelets
Macrothrombocytopenia with Leukocyte Inclusions
A disorder that may result in skin haemorrhage or blood spots on the skin (purpura) and bleeding. It is characterized by low blood platelet count (thrombocytopenia), giant platelets, and characteristic inclusions in peripheral blood leukocytes, and it is associated with mutation of the MYH9 gene. The condition may cause abnormalities in the inner ear of some patients hence the development of sensorineural hearing impairment. The hearing impairment may be congenital or developed at a later age or even in late adulthood.
A rare autosomal dominant genetic disease which results in abnormal platelet formation and impaired blood clotting function. The signs and symptoms include bleeding problems, hearing impairment, kidney disorders and abnormal eye lens function. The condition is a MYH9-related disorder.
An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene.
An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, with the additional features of nephritis, hearing loss, and eye abnormalities, mostly cataracts; it is associated with mutation of the MYH9 gene.
Autosomal Dominant Keratitis-Ichthyosis-Deafness Syndrome
Keratitis Ichthyosis and Deafness Syndrome
Keratitis, Ichthyosis, and Deafness (KID) Syndrome
Suggest OMIM removes name of syndrome from the start of the description.
An autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Keratitis-ichthyosis-deafness syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails.
Keratitis-Ichthyosis-Deafness (KID) Syndrome
Keratoderma, Palmoplantar, with Deafness
Palmoplantar Keratoderma with Deafness Syndrome (Disorder)
Palmoplantar Keratoderma-Hearing Loss Syndrome
A keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenar, hypothenar and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. Caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; 121011) on chromosome 13q12.
Palmoplantar Keratoderma with Deafness Syndrome
A condition in which a person loses the ability to hear due to exposure to high intensity sound.
Syndrome Associated with Hearing Impairment
A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition (a syndrome) that's presence has been associated with the occurrence of hearing impairment.
Disease or Disorder Associated with Hearing Loss
Term too specific to HLO to be irequested for nclusion in other ontologies.
A definite pathologic process with a characteristic set of signs and symptoms (a disease) or a material entity which is clinically abnormal and part of an extended organism (disorder) that's presence has been associated with the occurrence of hearing impairment.
Disease or Disorder Associated with Hearing Impairment
When hearing loss ranges between 26 to 40 dB.
When hearing loss ranges between 41 to 55 dB.
When hearing loss ranges between 71 to 90 dB.
Hearing loss that becomes worse over time.
A medical device used to diagnose medical conditions.
A medical device used to prevent and treat medical conditions, or to alleviate pain or injury.
Few but definitions not freely available
When hearing loss ranges between -10 to 15 dB.
A phenotype that shows detectable differences from normal.
Therapeutics that ease the symptoms without addressing the basic cause of the disease.
Measures aimed at providing appropriate supportive and rehabilitative services to minimize morbidity and maximize quality of life after a long-term disease or injury is present.
Activities to prevent a disease or its complications.
Therapy dealing with lifestyle management and includes: behavioral and dietary modifications, exercise, stress management, and addiction control. This therapy must be used as major adjunct to 'standard care' or be applied as alternative treatment to conventional medicine practices.
Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances.
Therapeutics relating to or used in the cure of diseases.
An information entity used in the diagnosis of medical conditions. It could be the recording of the output of a diagnostic device or the outcome of a diagnostic tool.
The visual output that a specific diagnostic device produces.
A diagnostic instrument, technique, laboratory assay or test, or method of patient examination used for differential diagnosis.
The genetic constitution of the individual, comprising the alleles present at each genetic locus.
A biological object that contains genetic information and that is involved in transmitting genetically encoded traits from one organism to another.
A research instrument consisting of a series of questions and other prompts for the purpose of gathering information from respondents to assist with differential diagnosis.
A planned process with the objective of producing diagnostic information about the material entity that is the evaluant, by physically examining it or its proxies.
Diagnostic Technique, Method, Test or Assay
The pattern in which a particular genetic trait or disorder is passed from one generation to the next.
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygous (two copies of the same mutant allele) or compound heterozygous (whereby each copy of a gene has a distinct mutant allele).
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. An autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
cause. (n.d.) Saunders Comprehensive Veterinary Dictionary, 3 ed.. (2007). Retrieved July 2 2019 from https://medical-dictionary.thefreedictionary.com/cause
Request inclusion into existing ontology See dc:sources for causes of congenital and acquired hearing loss
An agent, event, condition or characteristic which plays an essential role in producing an occurrence of disease.
Antidepressant Induced Hearing Impairment
Hearing impairment such as ringing in the ears that is the direct result of treatment with antidepressant medication.
Antidepressant-Induced Hearing Impairment
The age group in which disease manifestations appear.
The manner in which a disease first manifests.
Request inclusion into existing ontology
A cause of disease that is (at least initially) external to the organism. This includes exposure to a toxic or infectious agent, physical factors in the environment, or an event that causes injury.
A genetic factor that is able to cause disease.
A cause of disease that is from inside the body, such as bodily dysfunctions or inherited conditions or disorders.
A part of an extended organism that itself has as part a population of one or more infectious agents and that (1) exists as a result of processes initiated by members of the infectious agent population and is (2) clinically abnormal in virtue of the presence of this infectious agent population, or (3) has a disposition to bring clinical abnormality to immunocompetent organisms of the same Species as the host (the organism corresponding to the extended organism) through transmission of a member or offspring of a member of the infectious agent population.
Hearing Impairment by Region of Auditory System
The classification of hearing impairments according to the region of the auditory system that is affected.
Hearing Impairment by Physiopathology Mechanism
A hearing impairment that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity.
Request inclusion into NCIT as a sub-class of "Personal Medical History".
A record of an individual's history of Meningitis.
Gradual, very slow onset of disease manifestations.
Sudden appearance of disease manifestations over a short period of time. The word acute is applied to different time scales depending on the disease or manifestation and does not have an exact definition in minutes, hours, or days.
A material entity which is clinically abnormal and part of an extended organism. Disorders are the physical basis of disease.
Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity.
An unforeseen and unplanned event or circumstance frequently causing loss or injury.
Any physiological aspect of aging; irreversible changes in an organism that occur over time and lead to a more mature condition.
The process of change in the structure and function of an organism that occurs with the passage of time.
The process of growing old and showing the effects of time.
Hearing Loss by Stage of Language Development
Hearing loss according to when it first occurs with relation to the stage of language development.
Hearing Impairment by Stage of Language Development
Being in the vicinity of a loud noise such that one is hearing 85 A-weighted decibels (dBA) or more.
Treatment of factors associated with the definitive onset of a disease, illness, accident, behavioral response, or course of action. Usually one factor is more important or more obviously recognizable than others, if several are involved, and one may often be regarded as necessary. Examples include exposure to specific disease; amount or level of an infectious organism, drug, or noxious agent, etc.
The distinguishing qualities or prominent aspects of an individual person.
Could add many sub-classes of "Age" from NCIT.
How long something has existed; elapsed time since birth.
Acute appearance of disease manifestations in a period of minutes.
Acute appearance of disease manifestations in a period of hours.
Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
The molecular characteristics of a cell of tissue including expressed coding and non-coding RNAs, proteins and their post-translational modifications, lipids, carbohydrates and small molecules that characterize the state in a cell or tissue and that result from the interaction of its genotype and the environment.
SCDO to request inclusion into BioAssayontology. Update at a later stage if necessary.
The physical characteristics and levels of proteins that characterize the state in a cell or tissue and that result from the interaction of its genotype and the environment.
Wearable sound-amplifying devices that are intended to compensate for impaired hearing; devices include air-conduction hearing aids and bone-conduction hearing aids.
A mechanical instrument attached to the head, near the ear(s), that helps individuals who are deaf to detect and interpret sounds through their sense of touch. It is called a vibrotactile aid because it serves as an aid by permitting a person to feel the vibrations, in this case, of sounds.
Restoration of human functions to the maximum degree possible in a person or persons suffering from disease or injury.
Application of genetic material (usually DNA) into cells in order to permanently correct an inherited disease or acquired disease.
A material processing technique that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury or to help improve bodily function or appearance.
Surgery performed on the external, middle, or internal ear.
The branch of surgery concerned with restoration, reconstruction, or improvement of defective, damaged, or missing structures.
Agents used for the treatment or prevention of cardiac arrhythmias; they may effect the polarization-repolarization phase of the action potential, its excitability or refractoriness, or impulse conduction or membrane responsiveness within cardiac fibers.
An agent that binds to but does not activate beta-adrenergic receptors thereby blocking the actions of endogenous or exogenous beta-adrenergic agonists. beta-Adrenergic antagonists are used for treatment of hypertension, cardiac arrhythmias, angina pectoris, glaucoma, migraine headaches and anxiety.
Therapeutic use of hormones to alleviate the effects of hormone deficiency.
The use of hormonal agents with estrogen-like activity in postmenopausal or other estrogen-deficient women to alleviate effects of hormone deficiency, such as vasomotor symptoms, dyspareunia, and progressive development of osteoporosis. This may also include the use of progestational agents in combination therapy.
Surgical insertion of an electronic hearing device (cochlear implants) with electrodes to the cochlear nerve in the inner ear to create sound sensation in patients with residual nerve fibers.
Surgery to remove part or all of the thyroid gland.
A drug used to treat hyperthyroidism by reducing the excessive production of thyroid hormones.
Surgery performed on the eye or any of its parts.
Gastrointestinal System Operative Procedure
Operative Procedure on the Digestive System
Operative Procedure on the Gastrointestinal System
Surgery performed on any part of the digestive system.
Early identification, surveillance, and monitoring of individuals (especially children) for permanent hearing loss.
Clinical screening of hearing impairment as part of the universal newborn hearing screening.
Referring infants at high risk, such as those with a family history of deafness or those born with low birth weight, birth asphyxia, jaundice or meningitis, for early assessment of hearing, to ensure prompt diagnosis and appropriate management, as required;
Identification and Treatment of Superimposed Hearing Loss Aetiologies
An operation for retinal detachment which reduces the size of the globe by indenting the sclera so that it approximates the retina.
An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.
The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.
Reducing exposure to environmental risk factors which may be harmful to hearing.
Reducing exposure to both occupational and recreational loud sound.
Avoidance of Radiation Therapy During First Trimester of Pregnancy
Early Diagnosis of Precipitating Factors
Avoiding the use of particular drugs which may be harmful to hearing, unless prescribed and monitored by a qualified physician
Removal of the whole or part of the vitreous body in treating endophthalmitis, diabetic retinopathy, retinal detachment, intraocular foreign bodies, and some types of glaucoma.
A nonincisional procedure that has become a well-accepted alternative to scleral buckling and vitrectomy for the repair of selected cases of rhegmatogenous retinal detachment.
Any surgical procedure for treatment of glaucoma by means of puncture or reshaping of the trabecular meshwork. It includes goniotomy, trabeculectomy, and laser perforation.
Any procedure in which an intense beam of light is used to cut, burn, or destroy tissue.
Administration of vaccines to stimulate the host's immune response. This includes any preparation intended for active immunological prophylaxis or treatment.
Preliminary use of testing procedures or instruments to identify individuals at risk for a particular problem, or in need of a more thorough evaluation, or to determine an individual's suitability for a specific treatment.
Treatment of Ophthalmologic Complications
A small device used to correct a heartbeat that is abnormal (too fast, too slow, or irregular). The device is placed by surgery in the chest or abdomen. Wires are passed through a vein to connect the device to the heart. When it detects abnormal heartbeats, it sends an electrical shock to the heart to restore the heartbeat to normal.
Procedures performed on the heart, used in the treatment of disease, injuries, or deformities.
Therapy for the insufficient cleansing of the BLOOD by the kidneys based on dialysis and including hemodialysis, peritoneal dialysis, and hemodiafiltration.
The transference of a kidney from one human or animal to another.
Procedures which temporarily or permanently remedy insufficient cleansing of body fluids by the kidneys.
Surgical insertion of an electronic hearing device (auditory brain stem implants) with electrodes to the cochlea nucleus in the brain stem rather than to the inner ear as in cochlear implantation.
Electronic hearing devices typically used for patients with normal outer and middle ear function, but defective inner ear function. In the cochlea, the hair cells may be absent or damaged but there are residual nerve fibers. The device electrically stimulates the cochlear nerve to create sound sensation.
Agents directed to a malfunctioning endocrine path.
A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (glycogenolysis; gluconeogenesis) and indirectly by suppressing glucagon secretion and lipolysis. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (diabetes mellitus, type 1).
Hormones which stimulate the female reproductive organs, and the development of secondary female sex characteristics.
Any of several closely related compounds that are produced by the thyroid gland and are active metabolically.
A synthetic analogue of vasopressin in which 3-mercaptopropionic acid replaces the cysteine residue at position 1 and D-arginine replaces the residue at position 8. An antidiuretic, it increases urine concentration and decreases urine production, and is used (usually as the trihydrate of the acetic acid salt) to prevent and control excessive thirst, urination, and dehydration caused by injury, surgery, and certain medical conditions. It is also used in the diagnosis and treatment of cranial diabetes insipidus and in tests of renal function.
A characteristic appearance resulting from defective ossification of craniofacial bones.
Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future. A characteristic appearance resulting from defective ossification of craniofacial bones.
Damage to the ear, specifically the cochlea or auditory nerve as a result of some toxic stimulus, eg from a drug. Ototoxicity can result in hearing loss.
Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. An abnormality of the ear.
Deafness, Enamel Hypoplasia, Nail Defect Syndrome
Deafness, Enamel Hypoplasia, Nail Defect Syndrome (Disorder)
This syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.
Gradual bilateral hearing loss associated with aging that is due to progressive degeneration of cochlear structures and central auditory pathways. Hearing loss usually begins with the high frequencies then progresses to sounds of middle and low frequencies.
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss (CAPOS) Syndrome
An autosomal dominant neurologic disorder characterized by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies.
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss Syndrome
Hearing Loss, Sensorineural, With Enamel Hypoplasia and Nail Defects
Suggest update to description in OMIM: http://purl.bioontology.org/ontology/OMIM/234580
A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities. This form of Heimler Syndrome is caused by homozygous or compound heterozygous mutations in the PEX1 gene (602136) on chromosome 7q21.
Suggest update to description in OMIM: http://purl.bioontology.org/ontology/OMIM/616617
A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities. This form of Heimler Syndrome is caused by compound heterozygous mutation in the PEX6 gene (601498) on chromosome 6p21.
Systematic and thorough inspection of the patient for physical signs of disease or abnormality.
Suggest update to description in OMIM ontology on BioPortal
A heterozygous missense mutation in the ATP1A3 gene, where a glutamic acid residue is substituted with a lysine residue at position 818.
Not clear whether this is a loss or gain of function mutation.
A permanent change in the DNA sequence of a gene that alters the genetic message carried by that gene.
Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset.
Hearing loss caused by cisplatin (a chemotherapeutic agent) ototoxicity.
A cause of disease that is (at least initially) external to the organism and is part of a form of therapy.
A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary, this is known as heteroplasmy.
A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes (X and Y).
Suggest update to description in MEDDRA (currently no description).
Being in the vicinity of a loud noise at one's place of work such that one is hearing 85 A-weighted decibels (dBA) or more.
Being in the vicinity of a loud noise while taking part in recreational or leisure activities such that one is hearing 85 A-weighted decibels (dBA) or more.
Suggest update to description (currently no description)
Suggest update to description in NCIT (currently no description).
Injury to the hearing mechanisms within the inner ear, caused by excessively loud noise.
Damage to the ear during a surgical procedure.
When the inheritance of a recessive trait mimics a dominant pattern of inheritance.
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene.
The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified.
The classification of hearing impairments according to the ear that is involved in the hearing impairment.
Autosomal Dominant Nonsyndromic Deafness
Nonsyndromic Deafness, Autosomal Dominant
Add synonyms and sub-classes of "autosomal dominant nonsyndromic deafness" from MONDO (see dc:source)
A nonsyndromic deafness characterized by an autosomal dominant inheritance mode.
Nonsyndromic Hearing Impairment, Autosomal Dominant
Autosomal Recessive Nonsyndromic Deafness
Nonsyndromic Deafness, Autosomal Recessive
Add synonyms and sub-classes of "autosomal recessive nonsyndromic deafness" from MONDO (see dc:source)
A nonsyndromic deafness characterized by an autosomal recessive inheritance mode.
Nonsyndromic Hearing Impairment, Autosomal Recessive
A nonsyndromic deafness characterized by an X-linked inheritance mode.
Nonsyndromic Hearing Impairment, X-Linked
Nonsyndromic Hearing Impairment, Mitochondrial
Aminoglycoside Induced Hearing Impairment
Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics. The ototoxicity of aminoglycoside antibiotics is related to the destruction of sensory hair cells in the cochlea and vestibular labyrinth.
Aminoglycoside-Induced Hearing Impairment
Any antibiotic containing amino-modified sugars originally isolated from various Streptomyces and Micromonospora species. Aminoglycoside antibiotics bind to the 16S RNA of the bacterial 30S ribosomal subunit, inhibiting translation and protein synthesis. Aminoglycoside use is associated with ototoxicity, neurotxicity and nephrotoxicity.
Transplacental infection of the fetus with rubella usually in the first trimester of pregnancy, as a consequence of maternal infection, resulting in various developmental abnormalities in the newborn infant. They include cardiac and ocular lesions, deafness, microcephaly, mental retardation, and generalized growth retardation.
A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body.
EDS with Progressive Kyphoscoliosis, Myopathy, and Deafness
EDS with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
EDS, Kphoscoliotic and Hearing Loss Type
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Deafness
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Ehlers-Danlos Syndrome, Kyphoscoliotic and Hearing Loss Type
Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss
Suggest update to description in Orphanet, removing the name of the term from the start of the description.
A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.
Ehlers-Danlos Syndrome, Kyphoscoliotic and Deafness Type
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
A rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.
Caused by heterozygous mutation in the MYH14 gene (608568) on chromosome 19q13. One such family has been reported.
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss Syndrome
A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.
A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.
If additional gene products are included in the future, they can be categorised according to those below this term in the "National Cancer Institute Thesaurus" (NCIT)
A protein, RNA or a complex that contains proteins and/or RNA.
Abnormal Auditory/ Vestibular System Morphology
Abnormal Ear Development/ Ear Malformation
Auditory/ Vestibular System Abnormalities;
Any structural anomaly of any of the structures involved in the ear or vestibular system.
Any structural anomaly of any components of the tympanic cavity or its ossicles.
Any structural anomaly of the thin, tense membrane forming the greater part of the lateral wall of the tympanic cavity and separating it from the external acoustic meatus; the tympanic membrane constitutes the boundary between the external and middle ear.
Presence of a hole or tear in the tympanic membrane (eardrum).
Any structural anomaly of any components of the auricles or external acoustic meatus.
Any structural anomaly of the canal that connects the outer and middle ear.
Abnormal External Auditory Canal Morphology
Excess buildup of cerumen, a yellowish waxy substance (earwax), in the external auditory canal.
A decreased magnitude of the sensory perception of sound that is not permanent.
A decreased magnitude of the sensory perception of sound that is permanent.
Not permanent; not lasting; lacking continuity or regularity.
Blockage in the external ear canal due to cerumen (wax) build-up, hematoma (blood collection), or a foreign body in the ear canal.
The use of water to flush out ear wax. The water may be combined with an agent to soften the ear wax.
Onset of disease at the age of between 1 and 5 years. This term refers to ages up to but not including the fifth birthday (see Juvenile onset).
When an object from the environment has inadvertently entered and lodged in the ear canal.
Abnormal Separation of Middle Ear B-ones
A separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss).
Inflammation or infection of the middle ear.
Inflammation or infection of the external auditory canal (EAC), the auricle, or both.
A condition in which a segment of the tympanic membrane (eardrum) collapses inwards towards the middle ear space and lies more medially (deeper) than its normal position; the retracted segment is often known as a retraction pocket.
Injury following pressure changes; includes injury to the eustachian tube, ear drum, lung and stomach.
Injury resulting when a person is struck by particles impelled with violent force from an explosion. Blast causes pulmonary concussion and hemorrhage, laceration of other thoracic and abdominal viscera, ruptured ear drums, and minor effects in the central nervous system. (From Dorland, 27th ed)
Traumatic injury to the temporal bone in which the continuity of the bone is broken.
A broad-spectrum aminoglycoside antibiotic produced by fermentation of Micromonospora purpurea or M. echinospora. Gentamicin is an antibiotic complex consisting of four major (C1, C1a, C2, and C2a) and several minor components. This agent irreversibly binds to the bacterial 30S ribosomal subunit. Specifically, this antibiotic is lodged between 16S rRNA and S12 protein within the 30S subunit. This leads to interference with translational initiation complex, misreading of mRNA, thereby hampering protein synthesis and resulting in bactericidal effect. Aminoglycosides are mostly ineffective against anaerobic bacteria, fungi and viruses.
Substances naturally produced by microorganisms or their derivatives that selectively target microorganisms not humans. Antibiotics kill or inhibit the growth of microorganisms by targeting components of the microbial cell absent from human cells, including bacterial cell walls, cell membrane, and 30S or 50S ribosomal subunits. These substances are used in the treatment of bacterial and other microbial infections.
A branched tricyclic glycosylated peptide with bactericidal activity against most organisms and bacteriostatic effect on enterococci. At a site different from that of penicillins and cephalosporins, vancomycin binds tightly to the D-alanyl-D-alanine portion of cell wall precursors, thereby interfering with bacterial cell wall synthesis. This leads to activation of bacterial autolysins that destroy the cell wall by lysis. Vancomycin may also alter the permeability of bacterial cytoplasmic membranes and may selectively inhibit RNA synthesis.
One of a class of antibiotics originally isolated from plant and soil bacteria with structures containing either a glycosylated cyclic or polycyclic nonribosomal peptide. These antibiotics inhibit the cell wall structure of susceptible organisms (principally Gram-positive cocci) by inhibiting peptidoglycan synthesis. First-generation glycopeptide antibiotics include vancomycin, teicoplanin, and ramoplanin; second-generation semi-synthetic glycopeptide antibiotics include oritavancin, dalbavancin, and telavancin.
Erythromycin is a macrolide antibiotic with a 14-carbon ring that has an antimicrobial spectrum similar to or slightly wider than that of penicillin, and is often used for people that have an allergy to penicillins. Erythromycin may possess bacteriocidal activity, particularly at higher concentrations by binding to the 50S subunit of the bacterial 70S rRNA complex, inhibiting peptidyl-tRNA translocation. Thus, protein synthesis and subsequently structure/function processes critical for life or replication are inhibited.
Any of a group of broad spectrum naphthacene antibiotics isolated from various species of Streptomyces or produced semisynthetically. In bacteria, tetracycline antibiotics block binding of aminoacyl-tRNA to the mRNA-ribosome complex, thereby inhibiting protein synthesis. (NCI05)
A broad spectrum aminoglycoside antibiotic derived from Streptomyces fradiae with antibacterial activity. Neomycin is an antibiotic complex consisting of 3 components: the two isomeric components B and C are the active components, and neomycin A is the minor component. Neomycin irreversibly binds to the 16S rRNA and S12 protein of the bacterial 30S ribosomal subunit. As a result, this agent interferes with the assembly of initiation complex between mRNA and the bacterial ribosome, thereby inhibiting the initiation of protein synthesis. In addition, neomycin induces misreading of the mRNA template and causes translational frameshift, thereby results in premature termination. This eventually leads to bacterial cell death.
Request inclusion into HPO below "Aminoglycoside-Induced Hearing Loss"
Partial or complete loss of hearing following ingestion of neomycin.
A tetracycline antibiotic used to treat many different bacterial infections, such as urinary tract infections, respiratory infections, skin infections, severe acne, chlamydia, tick fever, and others. It is also used for gonorrhoea, syphilis, and other infections as a second-line drug in those with a penicillin allergy.
Minocycline reduces but does not completely eliminate neomycin induced hearing loss.
Traumatic injury to the temporal bone in which the continuity of the bone is broken and violation of the otic capsule is involved.
Fractures that disrupt the otic capsule will almost always result in a sensorineural hearing loss (SNHL) and are associated with a much higher incidence of facial nerve paralysis, nerve disruption, CSF fistula, and intracranial complications as compared with otic capsule sparing fractures.1 13 14 15 16 17 Otic capsule sparing fractures usually cause a conductive or mixed hearing loss.
Temporal Bone Fracture with Otic Capsule Involvement
Traumatic injury to the temporal bone in which the continuity of the bone is broken and violation of the otic capsule is not involved.
Temporal Bone Fracture without Otic Capsule Involvement
A class of agents that increases the production of urine by the kidney. Via various mechanism of actions, diuretics retain water in urine, thus provides a means of forced diuresis.
A sulfamoylanthranilic acid derivative, also known as frusemide, and potent loop diuretic. Furosemide is widely used to treat hypertension and edema. This agent is highly bound to albumin and is largely excreted unchanged in the urine.
[2,3-Dichloro-4-(2-methylene-1-oxobutyl)phenoxy]acetic Acid
An unsaturated ketone derivative of aryloxyacetic acid without a sulfonamide substituent belonging to the class of loop diuretics. Ethacrynic acid is extensively bound to plasma proteins; both ethacrynic acid in its unchanged form as well as its metabolites are excreted in bile and urine.
A benign schwannoma of the eighth cranial nerve (vestibulocochlear nerve), mostly arising from the vestibular branch (vestibular nerve) during the fifth or sixth decade of life. Clinical manifestations include hearing loss; headache; vertigo; tinnitus; and facial pain. Bilateral acoustic neuromas are associated with neurofibromatosis 2.
A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. a general class of medical conditions affecting the nervous system.
Sickle cell disease (SCD) is a pleiotropic inherited disorder of the blood, characterised by the appearance of sickle-shaped red blood cells and anemia. It results from homozygosity for the sickle beta-globin gene mutation at position 6 (glu > val), or double heterozygosity for the sickle gene and another mutation for a different hemoglobin variant or one of numerous beta-thalassemia mutations.
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.
Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.
Black Lock-Albinism-Deafness Syndrome (BADS)
Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease.
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Mitochondrial Complex Deficiency, Combined
Myopathy with Cataract and Combined Respiratory-Chain Deficiency
Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay
Suggest update to description in ORDO (remove name of syndrome from start of description)
A rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Split Hand, Split Foot Malformation with Sensorineural Hearing Loss Syndrome
Split Hand-Foot Malformation 1 with Sensorineural Hearing Loss
Split-Hand/Foot Malformation-1 with Sensorineural Hearing Loss (SHFM1D)
An extremely rare genetic syndrome with clinical characteristics of split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. There is evidence this syndrome may be caused by homozygous mutation in the DLX5 gene on chromosome 7q21.
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
An autosomal recessive multisystemic disorder with a highly variable phenotypic spectrum. It comprises cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, but not all of these features are always present, and almost all the features may present at different times and/or become more apparent with age. The skeletal features are consistent with spondyloepimetaphyseal dysplasia (SEMD).
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia Syndrome
A synthetic lipid-lowering agent with antilipidemic and potential antineoplastic properties. Fluvastatin competitively inhibits hepatic 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase, which catalyzes the conversion of HMG-CoA to mevalonate, a key step in cholesterol synthesis. This agent lowers plasma cholesterol and lipoprotein levels, and modulates immune responses through the suppression of MHC II (major histocompatibility complex II) on interferon gamma-stimulated antigen-presenting cells such as human vascular endothelial cells. Due to its anti-inflammatory effects mediated by alterations of lipid metabolism, fluvastatin may possess chemopreventive and therapeutic antineoplastic properties.
Been shown to protects cochleae from damage by high-level noise.
A specific region that is mapped within a genome. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or hereditary disease.
Autosomal Dominant Auditory Neuropathy 1
An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q.
Nonsyndromic Dominant Auditory Neuropathy
Diaphanous-Related Formin 3 Protein-Coding Gene
The protein-coding gene DIAPH3 (diaphanous-related formin 3) located on the chromosome 13 mapped at 13q21.2.
Suggest update to description in NCIT (no current description)
An clinical adjectival term used to specify and describe a disease appearance or processes.
Postlingual Non-Syndromic Genetic Deafness
Postlingual Non-Syndromic Genetic Hearing Impairment
Postlingual Nonsyndromic Genetic Deafness
Perhaps add sub-classes of "Postlingual non-syndromic genetic deafness" from the EFO.
Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed.
Postlingual Nonsyndromic Genetic Hearing Impairment
Prelingual Non-Syndromic Genetic Deafness
Prelingual Non-Syndromic Genetic Hearing Impairment
Prelingual Nonsyndromic Genetic Deafness
Perhaps add sub-classes of "Prelingual non-syndromic genetic deafness" from the EFO.
Prelingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition.
Prelingual Nonsyndromic Genetic Hearing Impairment
A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents.
A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. Here we take the European definition to be consistent with Orphanet.
Continuing or enduring over time, without fundamental or marked change.
A record of an individual's history of mumps.
A record of an individual's history of chronic ear infections.
Personal History of Chronic Ear Infections
Sensorineural Hearing Impairment with Childhood Onset
Sensorineural hearing impairment that begins manifesting at the age of between 1 and 5 years (not including the fifth birthday).
Childhood Onset Sensorineural Hearing Impairment
Autosomal Recessive Nonsyndromic Deafness 101
Autosomal Recessive Nonsyndromic Deafness Caused by Mutation in GRXCR2
Autosomal Recessive Nonsyndromic Deafness Type 101
GRXCR2 Autosomal Recessive Nonsyndromic Deafness
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene.
A prelingual, non-progressive form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Autosomal Recessive Nonsyndromic Hearing Impairment 101
Current age of a patient calculated using the current date and the patient's date of birth.
SCDO to request inclusion into MESH. Update at a later stage if necessary. The PhenX protocol is U.S. specific. Is there one relevant to the African setting? --> also asked in SCDO
PhenX protocol: Annual Family Income #11101
The respondent's total family income from the last calendar year.
The country in which the respondent was born.
Clinical Study Subject Unique Identifier
Clinical Trial Subject Unique Identifier
A unique identifier assigned to each clinical trial subject to protect the subject's identity and used in lieu of the subject's name when the investigator reports adverse events and/or other trial-related data.
SCDO to request inclusion into MESH. Update at a later stage if necessary.
The respondent's highest level of education at the current time.
PhenX protocol: Current Employment Status #11301
The respondent's current employment status.
Can add sub-classes of "Marital Status" from MESH.
PhenX protocol: Current Marital Status #10902
The respondent's current marital status.
The assemblage of properties that distinguish people on the basis of the societal roles expected for the two sexes.
A person's concept of self as being male and masculine or female and feminine, or ambivalent, based in part on physical characteristics, parental responses, and psychological and social pressures. It is the internal experience of gender role.
PhenX protocol: Health Insurance Coverage #11502
Whether the respondent is covered by health insurance or some other form of health care coverage at the time of the interview.
Also applicable to a population not just to an individual.
PhenX protocol: Medication Inventory #140301
A record of the type and dosage of all prescription and over-the-counter medications as well as dietary supplements currently being taken by the individual.
System of classification based on nation from which a person originates, regardless of the nation in which he/she currently resides.
An individual attribute that is the usual or principal work or business of an individual.
A record of a patient's background regarding health and the occurrence of disease events of the individual. In addition, personal medical history may be a variable in epidemiologic studies.
An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution.
Reimbursement of research participants for costs directly incurred during the research, such as travel costs and reasonable compensation for their inconvenience and time spent. Compensation can be monetary or non-monetary.
Research participants should be reasonably reimbursed for costs directly incurred during the research, such as travel costs, and compensated reasonably for their inconvenience and time spent. Compensation can be monetary or non-monetary. Compensation must not be so large as to induce potential participants to consent to participate in the research against their better judgment ("undue inducement"). A local research ethics committee must approve reimbursement and compensation for research participants.
A natural or synthetic analogue of the hormones secreted by the adrenal gland.
The protein-coding gene PEX1 (peroxisomal biogenesis factor 1) located on the chromosome 7 mapped at 7q21.2.
The protein-coding gene PEX6 (peroxisomal biogenesis factor 6) located on the chromosome 6 mapped at 6p21.1.
A protein that is a translation product of the human PEX6 gene or a 1:1 ortholog thereof.
A protein that is a translation product of the human PEX1 gene or a 1:1 ortholog thereof.
Glutaredoxin Domain-Containing Cysteine-Rich Protein 1-Like Protein
A protein that is a translation product of the human GRXCR2 gene or a 1:1 ortholog thereof.
Glutaredoxin Domain-Containing Cysteine-Rich Protein 2
Negligable (nothing useful/outdated ontology)
A homozygous 1-bp duplication (c.714dupT) in the GRXCR2 gene, resulting in a frameshift and premature termination (Gly239TrpfsTer74) of the Glutaredoxin Domain-Containing Cysteine-Rich Protein 2. The mutation is predicted to remove conserved residues, including the last 2 cysteines from the zinc finger motif, and to generate a protein with an abnormal C-terminal extension.
Suggest update to description in the Protein Ontology
A protein that is a translation product of the human ATP1A3 gene or a 1:1 ortholog thereof. This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients.
Sodium/Potassium-Transporting ATPase Subunit Alpha-3
Protein diaphanous homolog 3 (1193 aa, ~137 kDa) is encoded by the human DIAPH3 gene. This protein plays a role in Rho and Src coupling, cytokinesis and actin polymerization.
A mutation that causes a decrease in or elimination of a gene product's activity.
A mutation that results in an increase in a gene's activity or in acquiring a new molecular function or a new pattern of gene expression.
A heterozygous G-to-A transition at position -172 in the 5-prime untranslated region of the DIAPH3 gene which causes overexpression of the DIAPH3 gene.
Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.
Deafness, Congenital, and Functional Heart Disease
Jervell and Lange-Nielsen Syndrome Caused by Mutation in KCNQ1
KCNQ1 Jervell and Lange-Nielsen Syndrome
Prolonged QT Interval in EKG and Sudden Death
Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.
Jervell and Lange-Nielsen Syndrome Caused by Mutation in KCNE1
Jervell and Lange-Nielsen Syndrome Type 2
KCNE1 Jervell and Lange-Nielsen Syndrome
Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.
IKs Producing Slow Voltage-Gated Potassium Channel Subunit Alpha KvLQT1
Voltage-Gated Potassium Channel Subunit Kv7.1
Potassium voltage-gated channel subfamily KQT member 1 (676 aa, ~75 kDa) is encoded by the human KCNQ1 gene. This protein is involved in cardiac repolarization through modulation of potassium ion transport.
Potassium Voltage-Gated Channel Subfamily KQT Member 1
When hearing loss ranges between 56 to 70 dB.
When hearing loss ranges between 16 to 25 dB.
A record of an individual's history of cancer.
Request inclusion into NCIT as a sub-class of "Personal Attribute".
A record of a patient's biological mother's background regarding health and the occurrence of disease events of the mother.
Partial or complete hearing loss in one ear.
Suggest update to "Hearing Loss, Bilateral" in MESH
When the severity and configuration of hearing impairment is approximately the same in both ears.
Symmetrical Bilateral Hearing Impairment
When each ear has a different severity and configuration of hearing impairment.
Asymmetrical Bilateral Hearing Impairment
Request inclusion into NCIT as a sub-class of "Maternal Medical History" (also requested for inclusion).
A record of an individual's biological mother's history of Toxoplasmosis, Other Agents, Rubella, Cytomegalovirus, Herpes Simplex (TORCH) infections.
Hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning.
Hearing loss without a physical basis. Often observed in patients with psychological or behavioral disorders.
Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases.
A factor that modifies one or more aspects of a disease, such as sickle cell disease (SCD) (e.g. aspects such as temporal pattern, age of onset and mortality), for specific phenotype(s) of the disease.
The aggregate of social and cultural institutions, forms, patterns, and processes that influence the life of an individual or community.
A biological disease modifier that is of a genetic nature.
Genes with alleles that affect the phenotype associated with a nonallelic gene.
A disorder whose etiology involves an abnormality in the nucleotide sequence of an organism's genome.
Social and economic factors that characterize the individual or group within the social structure.
The combination of one's social class and income level. Includes socioeconomic differences between individuals or groups.
Combined effects of genotypes and environmental factors together to affect phenotypic characteristics.
A set of people with some shared element. The substance of shared element varies widely, from geography to a situation to interest to lives and values. The term is widely used to evoke sense of collectivity.
An environmental factor that modifies one or more aspects of sickle cell disease (SCD) (such as temporal pattern, age of onset and mortality) for specific phenotype(s) in the Phenotype class.
Individual lifestyle and behavior which may or may not enhance or maintain good health.
Pattern of behavior which predisposes certain individuals to increased risk for contracting disease or sustaining personal injury. These behaviors may cluster into a risky lifestyle.
The part of the human environment that consists of purely physical factors, including the natural environment (such as soil, climate, water supply) and the built environment.
Human-made surroundings that provide the setting for human activity, ranging in scale from personal shelter and buildings to neighborhoods and cite, and can often include their supporting infrastructure, such as water supply or energy networks.
A reference to a place on the Earth, by its name or by its geographical location.
An open swath of land that has few homes or other buildings, and not very many people.
The region surrounding a city. Most inhabitants of urban areas have nonagricultural jobs. Urban areas are very developed, meaning there is a density of human structures such as houses, commercial buildings, roads, bridges, and railways.
A factor that changes another factor or entity in some way.
Use dc:source to include: Dose, Duration of therapy, Concurrent renal failure, Infusion rate, Lifetime dose, Coadministration with other drugs having ototoxic potential, Genetic susceptibility
A factor that modifies one or more potential causes of a disease.
Onset of signs or symptoms of disease between 28 days to one year of life.
Onset of disease before the acquisition of speech and language, usually before the age of 6.
Onset of signs or symptoms of disease within the first 28 days of life.
Signs and Symptoms Begin Before 15 Years of Age
Onset of signs or symptoms of disease between the age of 5 and 15 years.
Of or relating to a medical condition or characteristic that is not present at birth but develops subsequently.
An adjectival term used to specify and describe a disease appearance or processes.
A characteristic of a disease in which the disease is present at birth, regardless of cause.
Suggest update to description in ICD10CM (currenlty no description)
A record of an individual's history of Tuberculosis.
Suggest NCIT updates their definition for "Caregiver" to the other alternative definition and includes "Primary Caregiver" as a sub-class of "Caregiver", using the definition currenlty provided for "Caregiver" instead for "Primary Caregiver", as we have done here.
The primary person in charge of the care of a patient, usually a family member or a designated health care professional.
The age of an individual at the time of initial pathologic diagnosis.
A disposition that is physically based on some genetic material, such as one or more gene mutations or variant, such that if the genome of an organism has the genetic material as its part, the organism may have an increased likelihood or chance to develop: 1) a particular disease; 2) a peculiar biological/bodily process.
Suggest CRISP removes "coordinate indexing with therapy or disease." from description.
Period of time a disease or treatment regimen occurs; includes therapies, education, interventions, prevention programs.
A small scale mutation caused by the substitution of a single nucleotide for another nucleotide.
Any rearrangement to the genomic content that results in the loss of one or more nucleotides of DNA. Deletions are generally irreversible rearrangements. They may alter the reading frame of a gene, or may result in loss of large chromosomal regions.
A mutation named with the blend of insertion and deletion. It refers to a length difference between two alleles where it is unknowable if the difference was originally caused by a sequence insertion or by a sequence deletion. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a frameshift mutation.
Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt genetic translation of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.
A single base pair substitution that alters the genetic code in a way that produces an amino acid that is different from the usual amino acid at that position. Some missense mutations will alter the function of the protein.
A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein.
A point mutation occurring within the protein-coding region of a gene, and which codes for the same amino acid as expected.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site to large nucleotide sequences visible at a chromosomal level.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, crossing over; gene conversion; genetic transformation; genetic conjugation; genetic transduction; or mixed infection of viruses.
Naturally occurring genetic variations associated with drug response. While these variants are not markers for genetic predisposition to disease, they influence pharmacokinetics and pharmacodynamics and often occur on genes encoding drug metabolism enzymes and transporters (e.g., angiotensin converting enzyme; cytochrome P-450 CYP2D6).
An exchange of DNA between matching or similar sequences.
The reciprocal exchange of segments at corresponding positions along pairs of homologous chromosomes by symmetrical breakage and crosswise rejoining forming cross-over sites (Holliday junctions) that are resolved during chromosome segregation. Crossing-over typically occurs during meiosis but it may also occur in the absence of meiosis, for example, with bacterial chromosomes, organelle chromosomes, or somatic cell nuclear chromosomes.
The meaning ascribed to the base sequence with respect to how it is translated into amino acid sequence. The start, stop, and order of amino acids of a protein is specified by consecutive triplets of nucleotides called codons.
The sequential set of three nucleotides in transfer RNA that interacts with its complement in messenger RNA, the Codon, during translation in the ribosome.
Also known as sense codon, a set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (terminator codon). Most codons are universal, but some organisms do not produce the transfer RNAs complementary to all codons. These codons are referred to as unassigned codons (nonsense codons).
A codon that directs initiation of protein translation (Translation, Genetic) by stimulating the binding of initiator tRNA (RNA, TRANSFER, MET). In prokaryotes, the codons AUG or GUG can act as initiators while in eukaryotes, AUG is the only initiator codon.
An amino acid-specifying codon that has been converted to a stop codon by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.
The classification of hearing impairments according to the agent, event, condition or characteristic which play an essential role in producing the hearing impairments.
A hearing impairment in which a disease causing genetic factor plays an essential role in producing the hearing impairment.
A hearing impairment in which an environmental disease cause plays an essential role in producing the hearing impairment.
Hearing Impairment of Environmental Aetiology
A hearing impairment for which the cause(s) (agents, events, conditions or characteristics that play an essential role in producing the hearing impairment) is/are unknown.
Generic term for diseases caused by an abnormal metabolic process.
A neoplastic or non-neoplastic disorder that affects the production and proliferation of the hematopoietic cells including lymphoid cells, the synthesis of hemoglobin, and/or the mechanisms of coagulation.
Pathological processes of the ear, the hearing, and the equilibrium system of the body.
Hearing loss according to when it first occurs.
Hearing loss that occurs any time after birth.
Hearing impairment which develops after the acquisition of speech and language, usually after the age of six.
Post-lingual hearing impairments are far more common than prelingual deafness
Hearing impairment which is either congenital or develops before the acquisition of speech and language, usually before the age of 6.
Hearing impairment that begins manifesting during adulthood (at the age of 16 years or later).
Hearing impairment that begins manifesting before adulthood (before the age of 16 years, but excluding neonatal or congenital onset).
Hearing Impairment with Onset in Childhood
Hearing impairment that begins manifesting at the age of between 1 and 5 years (not including the fifth birthday).
Hearing Impairment with Onset in Infancy
Hearing impairment that begins manifesting between 28 days to one year of life.
Sensorineural hearing impairment that begins manifesting during adulthood (at the age of 16 years or later).
Adult Onset Sensorineural Hearing Impairment
Hearing impairment that begins manifesting within the first 28 days of life.
The Standing Balance Test is a measure developed to assess static standing balance. It involves the participant assuming and maintaining up to five poses for 50 seconds each. The sequence of poses is: eyes open on a solid surface, eyes closed on a solid surface, eyes open on a 18 foam surface, eyes closed on a foam surface, eyes open in tandem stance on a solid surface. Detailed stopping rules are in place to ensure participant safety with these progressively demanding poses. Postural sway is recorded for each pose using an accelerometer that the participant wears at waist level.
Otoacoustic emissions test is a hearing assay with the objective to detect, record and measure the otoacoustic emissions (OAEs), the sound waves that are produced by the motion of the outer cochlea hair cells responding to the auditory stimulation (as a by-product of a cochlear mechanism known as 'cochlear amplification') and that are transmitted backwards through the middle ear and received by the tympanum (ear drum). Definition source: http://asha.org./public/hearing/Otoacoustic-Emissions Even though the intensity of the observed OAE response is a primary factor of in OAE detectability, it is the presence of a detectable OAE response to a particular stimulus that is clinically important and not its strength. [Source: Kemp, D. F. (2002) Otoacoustic emissions, their origin in cochlear function, and use. British Medical Bulletin 2002;63: pp 223-241.] Definition source: Kemp, D. F. (2002) Otoacoustic emissions, their origin in cochlear function, and use. British Medical Bulletin 2002;63: pp 223-241 Otoacoustic emissions (OAEs) are recorded via an ear canal probe (containing both the miniature sound source and the microphone transducer) which is inserted deeply into the ear canal) after an auditory stimulus presentation. Unlike other audiometric tests,in the case of OAE recording, it is not necessary for the stimulus to be near to threshold levels to detect departures from normal function. Middle ear status (middle ear fluid or blockage) affects the OAEs and can prevent their detection. OAE signals are very sensitive to minos conductive losses caused by middle ear fluid and ear canal debris in neonates, so that sometimes, in first few hours after birth, an auditory brain-stem response (ARB) can be recorded and OAE cannot.
A method used to test the condition of the middle ear, including mobility of the tympanic membrane (eardrum) and condition of conduction bones. During the test, a tympanometer is inserted into the ear canal and the instrument causes a series of changes in the pressure in the ear, generates a tone and measures the response of the eardrum at the different pressures.
Measurement of hearing based on the use of pure tones of various frequencies and intensities as auditory stimuli.
Hearing impairment that occurs due to premature birth (birth at or before 37 weeks of gestational age).
Past record of an individual's working life, including periods of unemployment.
Any structural anomaly of any components of the labyrinth, including the semicircular canals, vestibule and cochlea.
A graphic record of the softest sounds that a person can hear at various frequencies, used to measure hearing loss.
Anomaly in auditory function as it relates to electrical phenomena.
Educating young people and population in general on hearing loss, its causes, prevention and identification.
Absence or failure to form of the external auditory canal.
Any functional anomaly of the ear, not due to an anatomical defect.
A record of an individual's history of otological treatment.
Personal History of Otological Treatment
An acute infectious disease caused by RUBULAVIRUS, spread by direct contact, airborne droplet nuclei, fomites contaminated by infectious saliva, and perhaps urine, and usually seen in children under the age of 15, although adults may also be affected.
Any sound other than the sound being monitored (primary sound).
Vertigo is a dizziness characterized by a specific type of dizziness, a major symptom of a balance disorder. It is the sensation of spinning or swaying while the body is stationary with respect to the surroundings.
A test used to determine if the brain or balance portion of the inner ear are causing dizziness.
An examination that allows determination of the mobility of a patient's tympanic membrane (TM) in response to pressure changes.
Meningitis is the infection of the meninges that surround the brain and spinal cord. The infection may be due to bacterial, viral, fungal or parasitic infections or due to non-infectious causes. Symptoms include, but are not limited to, high fever( 38°C or above), severe headache, general malaise and/or confusion, photosensitivity, stiff neck, drowsiness and/or unresponsiveness, and/or seizures.
Part of an ear examination that measures the ability of sound to reach the brain.
Any functional anomaly in the ability to perceive auditory stimuli.
Examination of the ear canal and eardrum with an otoscope.
A test made available via a mobile app that can be used to self-screen for moderate hearing loss.
The testing of the acuity of the sense of hearing to determine the thresholds of the lowest intensity levels at which an individual can hear a set of tones. The frequencies between 125 and 8000 Hz are used to test air conduction thresholds and the frequencies between 250 and 4000 Hz are used to test bone conduction thresholds.
Abnormal Brainstem Auditory Brainstem Response(s)
Abnormal Brainstem Auditory Evoked Potential
Anomaly in the electrical activity generated in the ascending auditory system in response to short tone bursts; may be used to evaluate sensorineural hearing function; measurements may include the amplitude (the number of neurons firing), latency (the speed of transmission), interpeak latency (the time between peaks), interaural latency (the difference in wave V latency between ears) and threshold
Deliberate stimulation of the host's immune response. Active immunization involves administration of antigens or immunologic adjuvants. Passive immunization involves administration of immune sera or lymphocytes or their extracts (e.g., transfer factor, immune RNA) or transplantation of immunocompetent cell producing tissue (thymus or bone marrow).
Any functional anomaly of the sensory system responsible for the sense of head position and movement of the body through space; such anomalies may result in impaired balance, dizziness, poor regulation of postural muscle tone and inability to detect quick movements of the head.
Formation of spongy bone in the bony labyrinth of the ear, especially adjacent to the footplate of the stapes; it may cause bony ankylosis of the stapes, resulting in conductive hearing loss; cochlear otosclerosis results in sensorineural hearing loss.
Persistent sensation of buzzing, ringing, clicking, or other noises in the ear.
A pattern or manner of running, walking, or moving on foot.
Elicitation of a rotatory nystagmus by stimulating the semicircular canals with water or air which is above or below body temperature. In warm caloric stimulation a rotatory nystagmus is developed toward the side of the stimulated ear; in cold, away from the stimulated side. Absence of nystagmus indicates the labyrinth is not functioning.
A test of the transmission of sound to the inner ear through the bones of the skull. This testing can measure functionality of the inner ear independent of the functionality of the outer and middle ears.
A small vibrator connected to a hearing aid that produces vibrations that are transmitted through the skull to the inner ear, where they are perceived as sound.
Instruments designed to inspect or auscultate the ear. They are designed primarily to examine the outer ear canal and tympanic membrane by means of light and air under moderate pressure, as with a pneumatic otoscope.
Any structural anomaly in the series of cavities (cochlea, vestibule, and semicircular canals) contained within the otic capsule of the petrous portion of the temporal bone; the bony labyrinth is filled with perilymph, in which the delicate, endolymph-filled membranous labyrinth is suspended.
A viral infection caused by the cytomegalovirus. Infection rarely causes symptoms in healthy people, but symptoms may be similar to glandular fever; however, infection in pregnant or immunocompromised individuals is a cause for concern. CMV infection may result in serious congenital defects in children infected prior to birth or serious symptoms affecting the eyes, lungs, liver, oesophogus, stomach, and intestines in immunicompromised individuals.
A record of an individual's history of ear surgery.
An activity carried out for recreation or exercise, or as part of daily life.