hasExactSynonym
type: AnnotationProperty
definition source: hasExactSynonym
description: An alias in which the alias exhibits true synonymy. Example: ornithine cycle is an exact synonym of urea cycle.
created by: Jade Hotchkiss
creation date: 2019-06-06T11:12:46.678811Z

definition source
type: AnnotationProperty
definition source: IAO_0000119
description: 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.
created by: Jade Hotchkiss
creation date: 2019-07-17T14:29:18.44134Z
preferred label: description source

database cross reference
type: AnnotationProperty
hasExactSynonym: DbXref
hasExactSynonym: Xref
hasExactSynonym: database cross-reference
hasExactSynonym: database_cross_reference
hasExactSynonym: db xref
hasExactSynonym: hasDbXref
definition source: HIO_0000554
database cross reference: SBO:0000554
description: A database cross-reference. An annotation which directs one to information contained within a database.

existence in other ontologies
type: AnnotationProperty
description: 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.
created by: Jade Hotchkiss
creation date: 2019-07-17T14:48:28.267928Z
comment: 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

curator note
type: AnnotationProperty
hasExactSynonym: editor_notes
definition source: IAO_0000232
database cross reference: IAO:0000232
description: An administrative note of use for a curator but of no use for a user.
created by: Jade Hotchkiss
creation date: 2019-07-17T14:56:11.09874Z

hasDeprecatedSynonym
type: AnnotationProperty
creator: HLO (Jade Hotchkiss)
description: An alias in which the alias exhibits outdated or deprecated synonymy.
created by: Jade Hotchkiss
creation date: 2019-07-18T11:58:41.536629Z

has protocol
type: AnnotationProperty
existence in other ontologies: Sufficient
curator note: SCDO requested inclusion of this property into RO. Update details here again after inclusion.
creator: SCDO
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-07T11:49:00.948425Z

has manifestation
type: ObjectProperty
sub property of: topObjectProperty
inverse of: manifestation of
definition source: SCDO_1000218
database cross reference: SCDO:1000218
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.908937Z

gene carrying contributing genetic variation
type: ObjectProperty
sub property of: topObjectProperty
inverse of: carries genetic variation contributing to
existence in other ontologies: None
curator note: Suggest inclusion into RO
creator: HIO (Jade Hotchkiss)
description: A relationship between a condition and a gene where the gene contains one or more genetic variations that contribute to the condition.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.910162Z

has gene product
type: ObjectProperty
sub property of: topObjectProperty
inverse of: gene product of
existence in other ontologies: Suggest update of description
curator note: Suggest update of description in RO.
creator: HIO (Jade Hotchkiss)
description: 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.
source: RO_0002205
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.911337Z

has genetic variation
type: ObjectProperty
sub property of: topObjectProperty
inverse of: is genetic variation in gene
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: A relationship between a gene and a genetic variation, where the gene carries the genetic variation.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.912507Z

caused or contributed to by
type: ObjectProperty
sub property of: topObjectProperty
definition source: SCDO_0000660
database cross reference: SCDO:0000660
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in SCDO SCDO to suggest inclusion of property into RO. Update annotations at a later stage if necessary.
description: A relationship between an entity and another entity, where the second entity has a causal role for the first entity.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.913699Z

has causal or contributing genetic variation
type: ObjectProperty
sub property of: caused or contributed to by
definition source: SCDO_1000210
database cross reference: SCDO:1000210
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.915005Z

has causal genotype
type: ObjectProperty
sub property of: caused or contributed to by
inverse of: causes condition
definition source: SCDO_1000172
database cross reference: SCDO:1000172
existence in other ontologies: Sufficient
description: A relation between a condition (hemoglobinopathy) and the genotype that causes the condition.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.916229Z

has causal molecular phenotype
type: ObjectProperty
sub property of: caused or contributed to by
definition source: SCDO_1000223
database cross reference: SCDO:1000223
existence in other ontologies: Sufficient
description: A relation between a condition (disease such as a Hemoglobinopathy) and a molecular phenotype, where the molecular phenotype is evidence of the condition.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.917563Z

causes or contributes to molecular phenotype
type: ObjectProperty
sub property of: causes or contributes to
inverse of: molecular phenotype has causal or contributing genetic variation
definition source: SCDO_1000217
database cross reference: SCDO:1000217
existence in other ontologies: Sufficient
description: A relation between an entity (genotype) and a molecular phenotype, where the entity has some causal or contributing role that influences the molecular phenotype.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.918893Z

causes molecular phenotype
type: ObjectProperty
sub property of: causes or contributes to
definition source: SCDO_1000222
existence in other ontologies: Sufficient
curator note: SCDO to suggest inclusion of property into RO. Update annotations at a later stage if necessary.
description: A relation between a genotype and a molecular phenotype, where the genotype has a causal role for the molecular phenotype.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.920058Z

contributes to genotype
type: ObjectProperty
sub property of: causes or contributes to
inverse of: has contributing genetic variation
definition source: SCDO_1000184
database cross reference: SCDO:1000184
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.92124Z

may cause
type: ObjectProperty
sub property of: topObjectProperty
existence in other ontologies: None
curator note: Suggest inclusion into RO
creator: HIO (Jade Hotchkiss)
description: A relationship between an entity and another entity, where the first entity has the potential to cause the second entity.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.922404Z

induced by
type: ObjectProperty
sub property of: topObjectProperty
definition source: SCDO_1000199
database cross reference: SCDO:1000199
existence in other ontologies: Sufficient
description: A condition (phenotype or disease) or event (adverse event) induced by an entity (e.g. a drug) or activity (e.g. exercise).
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.923583Z

has risk factor
type: ObjectProperty
sub property of: topObjectProperty
inverse of: risk factor for
definition source: SCDO_1000203
database cross reference: SCDO:1000203
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.924776Z

associated with
type: ObjectProperty
sub property of: topObjectProperty
definition source: http://www.ontobee.org/ontology/SO
existence in other ontologies: Suggest update to description
curator note: Suggest inclusion of description in SO
creator: HIO (Jade Hotchkiss)
description: A relationship between an entity and another entity where the first entity is connected with the second in some way.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.925969Z

has mode of inheritance
type: ObjectProperty
sub property of: topObjectProperty
definition source: SCDO_0001364
database cross reference: SCDO:0001364
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.927171Z

diagnosed using tool
type: ObjectProperty
sub property of: topObjectProperty
definition source: SCDO_0000663
database cross reference: SCDO:0000663
existence in other ontologies: Sufficient
description: A relation between a phenotype that is a diagnosis and a diagnostic tool used in making the diagnosis.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.928349Z

diagnosed using measurement
type: ObjectProperty
sub property of: topObjectProperty
definition source: SCDO_1000220
database cross reference: SCDO:1000220
existence in other ontologies: Sufficient
description: A relation between a condition that is a diagnosis and a phenotype used in making the diagnosis.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.92955Z

measures
type: ObjectProperty
sub property of: topObjectProperty
inverse of: obtained via diagnostic tool
definition source: SCDO_1000194
database cross reference: SCDO:1000194
existence in other ontologies: Sufficient
description: A relation between a diagnostic tool and the diagnostic measurement that it measures.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.930712Z

uses diagnostic device
type: ObjectProperty
sub property of: topObjectProperty
inverse of: used by diagnostic tool
definition source: SCDO_1000192
database cross reference: SCDO:1000192
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.931852Z

has output measurement
type: ObjectProperty
sub property of: topObjectProperty
inverse of: output by diagnostic device
definition source: SCDO_0000474
database cross reference: SCDO:0000474
existence in other ontologies: Sufficient
description: A relation between a device (diagnostic device) and the recording of the output (diagnostic measurement) of the device.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.93301Z

treated with
type: ObjectProperty
sub property of: topObjectProperty
inverse of: treats
definition source: SCDO_0000664
database cross reference: SCDO:0000664
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.934158Z

uses medical device
type: ObjectProperty
sub property of: topObjectProperty
definition source: SCDO_0000475
database cross reference: SCDO:0000475
existence in other ontologies: Sufficient
description: A relation between a process (e.g. a form of therapy) and a medical device, where the medical device is used in the process.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.935311Z

manifestation of
type: ObjectProperty
sub property of: topObjectProperty
definition source: SCDO_1000180
database cross reference: SCDO:1000180
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.936461Z

carries genetic variation contributing to
type: ObjectProperty
sub property of: topObjectProperty
existence in other ontologies: None
curator note: Suggest inclusion into RO
creator: HIO (Jade Hotchkiss)
description: A relationship between a gene and a condition where the gene contains one or more genetic variations that contribute to the condition.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.93763Z

gene product of
type: ObjectProperty
sub property of: topObjectProperty
existence in other ontologies: Suggest update to description
curator note: Needs additional reviewing before change suggested to RO. Suggest update to description in RO.
creator: HIO (Jade Hotchkiss)
description: 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.
source: RO_0002204
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.938818Z

is genetic variation in gene
type: ObjectProperty
sub property of: topObjectProperty
existence in other ontologies: None
curator note: Suggest inclusion into RO
creator: HIO (Jade Hotchkiss)
description: A relationship between a gene variation and a gene, where the genetic variation is carried on the gene.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.939946Z

causes or contributes to condition
type: ObjectProperty
sub property of: causes or contributes to
inverse of: condition caused or contributed to by
definition source: RO_0003302
database cross reference: RO:0003302
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.941098Z

causes condition
type: ObjectProperty
sub property of: causes or contributes to
hasExactSynonym: results_in
definition source: RO_0003303
database cross reference: RO:0003303
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.942235Z

has contributing genetic variation
type: ObjectProperty
sub property of: caused or contributed to by
definition source: SCDO_1000196
database cross reference: SCDO:1000196
existence in other ontologies: Sufficient
description: A relation between a genotype and a genetic variation (e.g. mutation or genetic recombination), where the genetic variation contributes to the genotype.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.943399Z

risk factor for
type: ObjectProperty
sub property of: topObjectProperty
definition source: SCDO_1000204
database cross reference: SCDO:1000204
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.944551Z

obtained via diagnostic tool
type: ObjectProperty
sub property of: topObjectProperty
definition source: SCDO_1000190
database cross reference: SCDO:1000190
existence in other ontologies: Sufficient
description: A relationship between a diagnostic measurement and the diagnostic tool used to produce the measurement.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.94568Z

used by diagnostic tool
type: ObjectProperty
sub property of: topObjectProperty
definition source: SCDO_1000191
database cross reference: SCDO:1000191
existence in other ontologies: Sufficient
description: A relationship between a diagnostic device and the diagnostic tool by which the device is used.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.94681Z

output by diagnostic device
type: ObjectProperty
sub property of: topObjectProperty
definition source: SCDO_1000193
database cross reference: SCDO:1000193
existence in other ontologies: Sufficient
description: A relation between a diagnostic measurement and a diagnostic device, where the diagnostic measurement is the output of the diagnostic device.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.94795Z

treats
type: ObjectProperty
sub property of: topObjectProperty
definition source: SCDO_1000018
database cross reference: SCDO_1000018
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-20T20:01:55.949136Z

causes or contributes to
type: ObjectProperty
sub property of: topObjectProperty
definition source: SCDO_1000183
database cross reference: SCDO:1000183
existence in other ontologies: Sufficient
description: A relationship between 'a' and 'b', where 'a' has some causal role for 'b'.
created by: Jade Hotchkiss
creation date: 2019-08-21T19:27:50.52577Z

modified by
type: ObjectProperty
sub property of: topObjectProperty
inverse of: modifies
definition source: SCDO_1000005
database cross reference: SCDO:1000005
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-22T08:18:39.73081Z

modifies
type: ObjectProperty
sub property of: topObjectProperty
definition source: SCDO_1000015
database cross reference: SCDO:1000015
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in SCDO
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-22T08:18:39.732033Z

has age of onset
type: ObjectProperty
sub property of: topObjectProperty
definition source: SCDO_0000468
database cross reference: SCDO:0000468
existence in other ontologies: Suggest update in SCDO
curator note: Used as annotation property in SCDO. Suggest inclusion of "Age of Onset" class and use of this property as an object property.
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-22T08:58:41.109618Z

has mode of onset
type: ObjectProperty
sub property of: topObjectProperty
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: A relation between a disease and the manner in which the initial symptoms or manifestations of the disease usually appear in individuals.
created by: Jade Hotchkiss
creation date: 2019-08-22T09:01:48.76434Z

has qualifier
type: ObjectProperty
sub property of: topObjectProperty
hasExactSynonym: has_qualifying_context
definition source: GENO_0000580
database cross reference: GENO:0000580
existence in other ontologies: Sufficient
description: A relation used to describe a context or conditions that define and/or identify an entity.
created by: Jade Hotchkiss
creation date: 2019-08-22T09:05:41.389308Z

condition caused or contributed to by
type: ObjectProperty
sub property of: caused or contributed to by
existence in other ontologies: None
curator note: 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"
creator: HIO (Jade Hotchkiss)
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-23T14:08:55.305299Z

genetic variation causes or contributes to condition
type: ObjectProperty
sub property of: causes or contributes to
inverse of: condition has causal or contributing genetic variation
existence in other ontologies: none
curator note: Suggest inclusion into
creator: HIO (Jade Hotchkiss)
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-23T19:44:30.600971Z

molecular phenotype has causal or contributing genetic variation
type: ObjectProperty
sub property of: has causal or contributing genetic variation
existence in other ontologies: None
curator note: Suggest inclusion into RO
creator: HIO (Jade Hotchkiss)
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-23T19:54:48.329598Z

condition has causal or contributing genetic variation
type: ObjectProperty
sub property of: has causal or contributing genetic variation
existence in other ontologies: None
curator note: Suggest inclusion into RO
creator: HIO (Jade Hotchkiss)
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-23T19:54:48.330725Z

HIO
type: Class
subclass of: Thing
hasExactSynonym: Hearing Impairment Ontology
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-24T09:50:47.087225Z

Hearing Impairment
type: Class
subclass of: HIO
hasExactSynonym: Deafness
hasExactSynonym: Hearing Defect
hasExactSynonym: Hearing Loss
definition source: HP_0000365
database cross reference: HP:0000365
existence in other ontologies: Suggest update to description
curator note: 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.
description: A decreased perception and/or transmission of sound.
source: HP_0000365
created by: Jade Hotchkiss
creation date: 2019-05-24T09:51:09.421966Z
comment: 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.

Phenotype
type: Class
subclass of: HIO
definition source: http://bioportal.bioontology.org/ontologies/OGMS
database cross reference: OGMS:0000023
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-24T09:51:21.117445Z

Gene
type: Class
subclass of: Genetic Structure
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C16612
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-24T09:51:45.627156Z

deprecated terms
type: Class
subclass of: Thing
definition source: SCDO_0000359
database cross reference: SCDO_0000359
existence in other ontologies: Sufficient
created by: Jade Hotchkiss
creation date: 2019-05-24T09:54:51.10188Z

Sensorineural Hearing Impairment
type: Class
subclass of: Hearing Impairment by Physiopathology Mechanism
hasExactSynonym: Central Hearing Loss
hasExactSynonym: High Frequency Hearing Loss
hasExactSynonym: High-Frequency Hearing Loss
hasExactSynonym: Inner Ear Hearing Impairment
hasExactSynonym: Perceptive Deafness
hasExactSynonym: Perceptive Hearing Loss
hasExactSynonym: Perceptive Hearing Loss or Deafness
hasExactSynonym: SNHL
hasExactSynonym: Sensorineural Deafness
hasExactSynonym: Sensorineural Hearing Loss
hasExactSynonym: Sensorineural Hearing Loss Disorder
hasExactSynonym: Sensory Hearing Loss
definition source: EFO_1001176
database cross reference: EFO:1001176
existence in other ontologies: Sufficient
description: 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.
source: EFO_1001176
created by: Jade Hotchkiss
creation date: 2019-05-24T09:58:12.272446Z

Conductive Hearing Impairment
type: Class
subclass of: Hearing Impairment by Physiopathology Mechanism
subclass of: Restriction
  on property: treated with
  some values from: Otologic Surgery
hasExactSynonym: Conduction Deafness
hasExactSynonym: Conductive Deafness
hasExactSynonym: Conductive Hearing Loss
hasExactSynonym: Hearing Loss, Conductive
hasExactSynonym: Outer or Middle Ear Hearing Impairment
definition source: HP_0000405
database cross reference: HP:0000405
existence in other ontologies: Sufficient
description: An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
source: HP_0000405
created by: Jade Hotchkiss
creation date: 2019-05-24T09:58:12.273093Z

Mixed Hearing Impairment
type: Class
subclass of: Hearing Impairment by Physiopathology Mechanism
hasExactSynonym: Inner and Outer or Middle Ear Hearing Impairment
hasExactSynonym: Mixed Hearing Loss
definition source: HP_0000410
database cross reference: HP:0000410
existence in other ontologies: Sufficient
description: A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.
created by: Jade Hotchkiss
creation date: 2019-05-24T09:58:12.273764Z

Nonsyndromic Hearing Impairment
type: Class
subclass of: Hearing Impairment of Genetic Origin
hasExactSynonym: Non-Syndromic Hearing Impairment
hasExactSynonym: Non-Syndromic Hearing Loss
hasExactSynonym: Nonsyndromic Hearing Loss
definition source: MP_0006328
database cross reference: MP:0006328
existence in other ontologies: Sufficient
curator note: Populate with sub-classes of "nonsyndromic deafness" in DO. See dc:source. but use Uniprot, Human Diseases, to write appropriate descriptions.
description: 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
source: DOID_0050563
created by: Jade Hotchkiss
creation date: 2019-05-24T09:58:12.274397Z

Syndromic Hearing Impairment
type: Class
subclass of: Hearing Impairment of Genetic Origin
hasExactSynonym: Hearing Loss Associated with Syndrome
hasExactSynonym: SHL
hasExactSynonym: Syndromic Genetic Deafness
hasExactSynonym: Syndromic Hearing Loss
definition source: MP_0006330
database cross reference: MP:0006330
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in MP
description: Hearing impairment that is usually associated with malformations of the external ear and/or other inherited signs and symptoms.
created by: Jade Hotchkiss
creation date: 2019-05-24T09:58:12.274993Z

Usher Syndrome
type: Class
subclass of: Syndromic Hearing Impairment
created by: Jade Hotchkiss
creation date: 2019-05-24T09:59:42.321442Z

Usher Syndrome Type I
type: Class
subclass of: Usher Syndrome
hasExactSynonym: Usher Syndrome Type 1
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C126327
existence in other ontologies: Sufficient
description: A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.
created by: Jade Hotchkiss
creation date: 2019-05-24T10:00:24.387053Z

Usher Syndrome Type II
type: Class
subclass of: Usher Syndrome
hasExactSynonym: Usher Syndrome Type 2
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C126328
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in NCIT
description: 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
created by: Jade Hotchkiss
creation date: 2019-05-24T10:00:59.51614Z

Usher Syndrome Type III
type: Class
subclass of: Usher Syndrome
hasExactSynonym: Usher Syndrome Type 3
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C126329
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-24T10:00:59.51685Z

Pendred Syndrome
type: Class
subclass of: Syndromic Hearing Impairment
hasExactSynonym: Goiter-Deafness Syndrome
definition source: https://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C121745
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-24T10:01:38.567547Z

Brancho-Oto-Renal Syndrome
type: Class
subclass of: Syndromic Hearing Impairment
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Dominant
hasExactSynonym: BOR Syndrome
hasExactSynonym: Branchiootorenal (BOR) Syndrome
hasExactSynonym: Branchiootorenal Spectrum Disorders
hasExactSynonym: Branchiootorenal Syndrome
hasExactSynonym: Melnick-Fraser Syndrome
definition source: D019280
database cross reference: MESH:D019280
existence in other ontologies: Sufficient
description: 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.
source: branchiootorenal-branchiootic-syndrome#
created by: Jade Hotchkiss
creation date: 2019-05-24T10:03:32.367226Z
comment: 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.

Waardenburg Syndrome
type: Class
subclass of: Syndromic Hearing Impairment
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Dominant
definition source: NCIT C85222
database cross reference: NCIT:C85222
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-24T10:04:49.777475Z

Stickler Syndrome
type: Class
subclass of: Syndromic Hearing Impairment
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Dominant
definition source: https://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C74984
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-24T10:04:49.778171Z

Alport Syndrome
type: Class
subclass of: Syndromic Hearing Impairment
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: COL4A5
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: COL4A3
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: COL4A4
subclass of: Restriction
  on property: has mode of inheritance
  some values from: X-Linked Inheritance
hasExactSynonym: Alport's Syndrome
hasExactSynonym: Hereditary Nephritis
definition source: NCIT C34842
database cross reference: NCIT:C34842
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-24T10:04:49.778837Z

Jervell and Lange-Nielsen Syndrome
type: Class
subclass of: Syndromic Hearing Impairment
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Recessive
hasExactSynonym: Cardioauditory Syndrome of Jervell and Lange Nielsen
hasExactSynonym: Cardioauditory Syndrome of Jervell and Lange-Nielsen
hasExactSynonym: JLNS
hasExactSynonym: Jervell Lange Nielsen Syndrome
hasExactSynonym: Jervell-Lange Nielsen Syndrome; Cardio-Auditory Syndrome
hasExactSynonym: Long QT Interval-Deafness Syndrome
definition source: Orphanet_90647
database cross reference: ORPHA:90647
existence in other ontologies: Sufficient
description: 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.
source: D029593
created by: Jade Hotchkiss
creation date: 2019-05-24T10:04:49.779529Z
comment: It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).

Treacher Collins Syndrome
type: Class
subclass of: Syndromic Hearing Impairment
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Dominant
hasExactSynonym: Franceschetti-Klein Syndrome
hasExactSynonym: Mandibulofacial Dysostosis
hasExactSynonym: Mandibulofacial Dysostosis without Limb Anomalies
hasExactSynonym: Treacher-Collins' Syndrome
definition source: https://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C75018
existence in other ontologies: Sufficient
description: 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.
source: Orphanet 861
created by: Jade Hotchkiss
creation date: 2019-05-24T10:46:46.481915Z
comment: A Malformation Syndrome

Auditory Neuropathy
type: Class
subclass of: Auditory System Disease or Disorder
hasExactSynonym: ANSD
hasExactSynonym: Auditory Dys-synchrony
hasExactSynonym: Auditory Neuropathy Spectrum Disorder
definition source: NCIT C116364
database cross reference: NCIT:C116364
existence in other ontologies: Sufficient
description: A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.
created by: Jade Hotchkiss
creation date: 2019-05-24T10:52:49.502419Z

Perrault Syndrome
type: Class
subclass of: Syndromic Hearing Impairment
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Recessive
hasExactSynonym: Gonodal Dysgenesis, XX Type, with Deafness
hasExactSynonym: XX Gonodal Dysgenesis - Deafness
hasExactSynonym: XX Gonodal Dysgenesis-Deafness Syndrome
definition source: DOID_0050857
database cross reference: DOID:0050857c
existence in other ontologies: Sufficient
description: An autosomal recessive disease that is characterized by sensorineural hearing loss and ovarian failure.
created by: Jade Hotchkiss
creation date: 2019-05-24T10:54:43.652395Z

Norrie Syndrome
type: Class
subclass of: Syndromic Hearing Impairment
subclass of: Restriction
  on property: has mode of inheritance
  some values from: X-Linked Inheritance
hasExactSynonym: Anderson-Warburg Syndrome
hasExactSynonym: Atrophia Bulborum Hereditaria
hasExactSynonym: Episkopi Blindness
hasExactSynonym: Fetal Iritis Syndrome
hasExactSynonym: ND
hasExactSynonym: Norrie Disease
hasExactSynonym: Whitnall-Norman Syndrome
definition source: https://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C118634
existence in other ontologies: Sufficient
description: 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.
source: norrie-disease
created by: Jade Hotchkiss
creation date: 2019-05-24T10:59:25.7514Z

CHARGE Syndrome
type: Class
subclass of: Syndromic Hearing Impairment
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Dominant
hasExactSynonym: Coloboma Heart Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities; and Ear Malformations (CHARGE) Association
hasExactSynonym: Coloboma, Heart Defects, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Anomalies Association
hasExactSynonym: Heart Malformation;
definition source: NCIT C75100
database cross reference: NCIT:C75100
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-24T11:00:01.2135Z

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC) Syndrome
type: Class
subclass of: Syndrome Associated with Hearing Impairment
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: ABHD12
hasExactSynonym: PHARC
hasExactSynonym: PHARC Syndrome
hasExactSynonym: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract Syndrome
hasExactSynonym: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract Syndrome (Disorder)
definition source: HIO_723452007
database cross reference: SNOMEDCT:723452007
existence in other ontologies: Sufficient
description: 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).
created by: Jade Hotchkiss
creation date: 2019-05-24T12:01:15.412753Z

Wolfram Syndrome
type: Class
subclass of: Syndrome Associated with Hearing Impairment
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Recessive
hasExactSynonym: DIDMOAD
hasExactSynonym: DIDMOAD Syndrome
hasExactSynonym: Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness
hasExactSynonym: Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome
hasExactSynonym: WS
definition source: Orphanet 3463
database cross reference: ORPHA:3463
existence in other ontologies: Sufficient
description: 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).
created by: Jade Hotchkiss
creation date: 2019-05-24T12:08:57.432291Z

Wolfram Syndrome 1
type: Class
subclass of: Wolfram Syndrome
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Recessive
hasExactSynonym: WFS
hasExactSynonym: WFS1
hasExactSynonym: WS1
definition source: DOID_0110629
database cross reference: DOID:0110629
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-27T18:07:44.46914Z

Wolfram Syndrome 2
type: Class
subclass of: Wolfram Syndrome
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Recessive
hasExactSynonym: WFS2
hasExactSynonym: WS2
database cross reference: DOID_0110630
database cross reference: DOID:0110630
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-27T18:07:44.469849Z

Wolfram-Like Syndrome
type: Class
subclass of: Syndrome Associated with Hearing Impairment
definition source: Orphanet_411590
database cross reference: ORPHA:411590
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in Orphanet. We have removed part of the description and put it in a comment.
description: 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.
source: Orphanet_411590
created by: Jade Hotchkiss
creation date: 2019-05-27T18:33:13.190471Z
comment: 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.

Axenfeld-Rieger Syndrome, Type 3
type: Class
subclass of: Syndrome Associated with Hearing Impairment
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: FOXC1
hasExactSynonym: Anterior Chamber Cleavage Syndrome
hasExactSynonym: RIEG3
hasExactSynonym: Rieger Syndrome Type 3
definition source: http://identifiers.org/omim/602482
database cross reference: OMIM:602482
existence in other ontologies: Sufficient
curator note: The link to OMIM does not work, but it is sited by other ontologies too.
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-27T19:24:49.818667Z

Disease, Disorder or Syndrome Associated with Hearing Impairment
type: Class
subclass of: Intrinsic Disease Cause
hasExactSynonym: Disease, Disorder, or Syndrome Associated with Hearing Loss
existence in other ontologies: None
curator note: Term too specific to HIO to be requested for inclusion in other ontologies.
creator: HIO (Jade Hotchkiss)
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-30T08:58:46.772723Z

Genetic Phenomena
type: Class
subclass of: HIO
hasExactSynonym: Concepts, Genetic
definition source: D055614
database cross reference: MESH:D055614
existence in other ontologies: Sufficient
description: The biological processes, properties, and objects that are involved in maintaining, expressing, and transmitting from one organism to another, genetically encoded traits.
created by: Jade Hotchkiss
creation date: 2019-05-31T07:19:21.5092Z

Genetic Variation
type: Class
subclass of: Genetic Phenomena
subclass of: Genetic Disease Cause
definition source: SCDO_0001369
database cross reference: SCDO:0001369
existence in other ontologies: Sufficient
curator note: SCDO to request update to description in NCIT. Update at a later stage if necessary.
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-31T07:19:42.003651Z

Diagnostics
type: Class
subclass of: HIO
definition source: SCDO_0000379
database cross reference: SCDO:0000379
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-31T07:22:27.329219Z

Therapeutics
type: Class
subclass of: HIO
hasExactSynonym: Therapy
hasExactSynonym: Treatment
definition source: D013812
database cross reference: MESH:D013812
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in MESH
description: Procedures, agents or devices concerned with the remedial treatment or prevention of diseases.
created by: Jade Hotchkiss
creation date: 2019-05-31T07:22:43.208574Z

Meniere's Disease
type: Class
subclass of: Auditory System Disease or Disorder
hasExactSynonym: Meniere Disease
hasExactSynonym: Meniere Vertigo
hasExactSynonym: Otogenic Vertigo
definition source: D008575
database cross reference: MESH:D008575
existence in other ontologies: Sufficient
description: 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.
source: HIO_13445001
created by: Jade Hotchkiss
creation date: 2019-05-31T07:28:23.969246Z

Charcot-Marie-Tooth Disease
type: Class
subclass of: Nervous System Disease
hasExactSynonym: CMT
hasExactSynonym: Hereditary Motor and Sensory Neuropathy
hasExactSynonym: Hereditary Sensorimotor Neuropathy
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C75467
existence in other ontologies: Sufficient
hasDeprecatedSynonym: Friedreich's Ataxia
hasDeprecatedSynonym: Marie Ataxia
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-31T07:28:23.969977Z

Distal Renal Tubular Acidosis (dRTA)
type: Class
subclass of: Urinary System Disease
hasExactSynonym: Classic RTA
hasExactSynonym: Familial Distal Primary Acidosis
hasExactSynonym: Renal Tubular Acidosis Type 1
hasExactSynonym: dRTA
definition source: Orphanet 18
database cross reference: ORPHA:18
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-31T07:28:23.970686Z

Cardiomyopathy, Dilated, 1J
type: Class
subclass of: Syndrome Associated with Hearing Impairment
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: EYA4
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Dominant
hasExactSynonym: Autosomal Dominant Dilated Cardiomyopathy with Sensorineural Hearing Loss
hasExactSynonym: CMD1J
hasExactSynonym: Cardiomyopathy, Dilated, 1J
hasExactSynonym: Cardiomyopathy, Dilated, with Sensorineural Hearing Loss, Autosomal Dominant
hasExactSynonym: Dilated Cardiomyopathy 1J
hasExactSynonym: Neurosensory Hearing Loss with Dilated Cardiomyopathy
hasExactSynonym: Sensorineural Deafness with Dilated Cardiomyopathy
hasExactSynonym: Sensorineural Hearing Loss with Dilated Cardiomyopathy
definition source: MONDO_0011541
database cross reference: MONDO:0011541
existence in other ontologies: Suggest update to description
curator note: 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"?
description: 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.
source: DOID_0110440
source: DI-00217
created by: Jade Hotchkiss
creation date: 2019-05-31T07:30:50.301074Z
comment: A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2.

Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss
type: Class
subclass of: Syndrome Associated with Hearing Impairment
hasExactSynonym: MYH9-Related Disease
definition source: https://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C158788
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-31T07:32:25.393602Z

May-Hegglin Anomaly
type: Class
subclass of: Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: MYH9
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Dominant
hasExactSynonym: Bleeding Disorder, Platelet-Type, 6
hasExactSynonym: Dohle Leukocyte Inclusions
hasExactSynonym: Dohle Leukocyte Inclusions with Giant Platelets
hasExactSynonym: MHA
hasExactSynonym: MYH9-Related Disease
hasExactSynonym: Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss
hasExactSynonym: Macrothrombocytopenia with Leukocyte Inclusions
hasExactSynonym: Matins
hasExactSynonym: May-Hegglin Thrombocytopenia
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Not relevant to context of HLO
creator: HIO (Samuel)
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-31T07:46:18.524666Z

Sebastian Syndrome
type: Class
subclass of: Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss
hasExactSynonym: Sebastian Platelet Syndrome
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Not relevant to context of HLO
creator: HIO (Samuel)
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-31T07:46:18.525359Z

Epstein Syndrome
type: Class
subclass of: Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: MYH9
definition source: NCIT C131639
database cross reference: NCIT:C131639
existence in other ontologies: Sufficient
description: An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene.
created by: Jade Hotchkiss
creation date: 2019-05-31T07:46:18.52605Z

Fechtner Syndrome
type: Class
subclass of: Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: MYH9
definition source: NCIT C131642
database cross reference: NCIT:C131642
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-31T07:46:18.526683Z

Keratitis-Ichthyosis-Deafness (KID) Syndrome
type: Class
subclass of: Syndromic Hearing Impairment
hasExactSynonym: Autosomal Dominant Keratitis-Ichthyosis-Deafness Syndrome
hasExactSynonym: KID Syndrome
hasExactSynonym: Keratitis Ichthyosis and Deafness Syndrome
hasExactSynonym: Keratitis, Ichthyosis, and Deafness (KID) Syndrome
hasExactSynonym: Keratitis-Ichthyosis-Deafness Syndrome
hasExactSynonym: Kid Syndrome, Autosomal Dominant
definition source: http://identifiers.org/omim/148210
database cross reference: OMIM:148210
existence in other ontologies: Suggest update to description
curator note: Suggest OMIM removes name of syndrome from the start of the description.
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.
created by: Jade Hotchkiss
creation date: 2019-05-31T07:49:43.168998Z

Palmoplantar Keratoderma with Deafness Syndrome
type: Class
subclass of: Syndromic Hearing Impairment
hasExactSynonym: Keratoderma Palmoplantar with Deafness
hasExactSynonym: Keratoderma, Palmoplantar, with Deafness
hasExactSynonym: Palmoplantar Keratoderma with Deafness Syndrome (Disorder)
hasExactSynonym: Palmoplantar Keratoderma-Hearing Loss Syndrome
hasExactSynonym: PpK with Deafness
hasExactSynonym: Ppk-Deafness Syndrome
definition source: HIO_722203001
database cross reference: SNOMEDCT:722203001
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-31T07:55:48.14987Z

Noise-Induced Hearing Impairment
type: Class
subclass of: Sensorineural Hearing Impairment
subclass of: Hearing Impairment of Environmental Aetiology
hasExactSynonym: Hearing Loss, Noise-Induced
hasExactSynonym: NIHL
hasExactSynonym: Noise Induced Deafness
hasExactSynonym: Noise Induced Hearing Impairment
hasExactSynonym: Noise Induced Hearing Loss
hasExactSynonym: Noise-Induced Hearing Loss
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C34664
existence in other ontologies: Sufficient
description: A condition in which a person loses the ability to hear due to exposure to high intensity sound.
created by: Jade Hotchkiss
creation date: 2019-06-06T18:55:55.160836Z

Syndrome Associated with Hearing Impairment
type: Class
subclass of: Disease, Disorder or Syndrome Associated with Hearing Impairment
hasExactSynonym: Syndrome Associated with Hearing Impairment
existence in other ontologies: None
curator note: Term too specific to HIO to be requested for inclusion in other ontologies.
creator: HIO (Jade Hotchkiss)
description: 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.
created by: Jade Hotchkiss
creation date: 2019-05-31T09:40:21.835799Z

Disease or Disorder Associated with Hearing Impairment
type: Class
subclass of: Disease, Disorder or Syndrome Associated with Hearing Impairment
hasExactSynonym: Disease or Disorder Associated with Hearing Loss
existence in other ontologies: None
curator note: Term too specific to HLO to be irequested for nclusion in other ontologies.
creator: HIO (Jade Hotchkiss)
description: 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.
source: OGMS_0000045
created by: Jade Hotchkiss
creation date: 2019-05-31T09:40:21.836524Z

Mild Hearing Impairment
type: Class
subclass of: Clinical Phenotype
hasExactSynonym: Mild HI
hasExactSynonym: Mild HL
hasExactSynonym: Mild Hearing Loss
definition source: Degree-of-Hearing-Loss
existence in other ontologies: Few but definitions not specific enough
curator note: Suggest update to description in HPO.
creator: HIO (Jade Hotchkiss)
description: When hearing loss ranges between 26 to 40 dB.
created by: Jade Hotchkiss
creation date: 2019-05-31T10:39:13.3914Z

Moderate Hearing Impairment
type: Class
subclass of: Clinical Phenotype
hasExactSynonym: Moderate HI
hasExactSynonym: Moderate HL
hasExactSynonym: Moderate Hearing Loss
definition source: Degree-of-Hearing-Loss
existence in other ontologies: Few but definitions not specific enough
curator note: Suggest update to description in HPO.
creator: HIO (Jade Hotchkiss)
description: When hearing loss ranges between 41 to 55 dB.
created by: Jade Hotchkiss
creation date: 2019-05-31T10:39:13.392407Z

Severe Hearing Impairment
type: Class
subclass of: Clinical Phenotype
hasExactSynonym: Severe HI
hasExactSynonym: Severe HL
hasExactSynonym: Severe Hearing Loss
definition source: Degree-of-Hearing-Loss
existence in other ontologies: Few but definitions not specific enough
curator note: Suggest update to description in HPO.
creator: HIO (Jade Hotchkiss)
description: When hearing loss ranges between 71 to 90 dB.
created by: Jade Hotchkiss
creation date: 2019-05-31T10:39:13.393348Z

Profound Hearing Impairment
type: Class
subclass of: Clinical Phenotype
hasExactSynonym: Profound HI
hasExactSynonym: Profound HL
hasExactSynonym: Profound Hearing Loss
definition source: Degree-of-Hearing-Loss
existence in other ontologies: Few but definitions not specific enough
curator note: Suggest update to description in HPO.
creator: HIO (Jade Hotchkiss)
description: When hearing loss range is above 91 dB.
created by: Jade Hotchkiss
creation date: 2019-05-31T10:39:13.394283Z

Progressive Hearing Impairment
type: Class
subclass of: Clinical Phenotype
hasExactSynonym: Progressive Hearing Loss
hasExactSynonym: Progressive HI
hasExactSynonym: Progressive HL
existence in other ontologies: Few but definitions not specific enough
curator note: Suggest update to description in HPO.
creator: HIO (Jade Hotchkiss)
description: Hearing loss that becomes worse over time.
created by: Jade Hotchkiss
creation date: 2019-05-31T10:39:13.395214Z

Diagnostic Device
type: Class
subclass of: Diagnostics
definition source: ERO_0001448
database cross reference: ERO:0001448
existence in other ontologies: Sufficient
description: A medical device used to diagnose medical conditions.
created by: Jade Hotchkiss
creation date: 2019-05-31T10:41:48.789368Z

Therapeutic Device
type: Class
subclass of: Therapeutics
definition source: SCDO_0001150
database cross reference: SCDO:0001150
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: A medical device used to prevent and treat medical conditions, or to alleviate pain or injury.
created by: Jade Hotchkiss
creation date: 2019-05-31T10:42:05.460152Z

Clinical Phenotype
type: Class
subclass of: Phenotype
created by: Jade Hotchkiss
creation date: 2019-05-31T10:47:19.895679Z

Normal Hearing
type: Class
subclass of: Clinical Phenotype
hasExactSynonym: Hearing Normal
definition source: Degree-of-Hearing-Loss
existence in other ontologies: Few but definitions not freely available
creator: HIO (Jade Hotchkiss)
description: When hearing loss ranges between -10 to 15 dB.
created by: Jade Hotchkiss
creation date: 2019-05-31T14:10:43.993526Z

Abnormal Phenotype
type: Class
subclass of: Phenotype
hasExactSynonym: Phenotypic Abnormality
definition source: FYPO_0001985
database cross reference: FYPO:0001985
existence in other ontologies: Sufficient
description: A phenotype that shows detectable differences from normal.
created by: Jade Hotchkiss
creation date: 2019-05-31T14:11:04.679353Z

Symptomatic Therapeutics
type: Class
subclass of: Therapeutics
hasExactSynonym: Symptomatic Treatment
definition source: SCDO_0001133
database cross reference: SCDO:0001133
existence in other ontologies: Sufficient
description: Therapeutics that ease the symptoms without addressing the basic cause of the disease.
created by: Jade Hotchkiss
creation date: 2019-06-06T07:51:10.492445Z

Supportive Therapeutics
type: Class
subclass of: Therapeutics
hasExactSynonym: Supportive Therapy
hasExactSynonym: Tertiary Prevention
definition source: D055512
database cross reference: MESH:D055512
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-06T07:51:10.49338Z

Preventative Therapeutics
type: Class
subclass of: Therapeutics
hasExactSynonym: Preventive Therapeutics
hasExactSynonym: Prophylactic Therapeutics
definition source: SCDO_0000922
database cross reference: SCDO:0000922
existence in other ontologies: Sufficient
description: Activities to prevent a disease or its complications.
created by: Jade Hotchkiss
creation date: 2019-06-06T07:51:10.494403Z

Lifestyle Therapy
type: Class
subclass of: Therapeutics
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C15900
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-06T07:51:10.495139Z

Drug
type: Class
subclass of: Therapeutics
definition source: CHEBI_23888
database cross reference: CHEBI:23888
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-06T07:51:10.495859Z

Curative Therapeutics
type: Class
subclass of: Therapeutics
definition source: SCDO_0000301
database cross reference: SCDO:0000301
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: Therapeutics relating to or used in the cure of diseases.
created by: Jade Hotchkiss
creation date: 2019-06-06T07:51:10.49661Z

Diagnostic Measurement
type: Class
subclass of: Diagnostics
hasExactSynonym: Diagnostic Quantitative Measurement
definition source: SCDO_0000728
database cross reference: SCDO:0000728
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-06T07:57:10.042Z

Diagnostic Device Visual Output
type: Class
subclass of: Diagnostics
hasExactSynonym: Visual Output of a Diagnostic Device
definition source: SCDO_1000313
database cross reference: SCDO:1000313
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: The visual output that a specific diagnostic device produces.
created by: Jade Hotchkiss
creation date: 2019-06-06T07:57:10.042806Z

Diagnostic Tool
type: Class
subclass of: Diagnostics
definition source: SCDO_1000032
database cross reference: SCDO:1000032
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: A diagnostic instrument, technique, laboratory assay or test, or method of patient examination used for differential diagnosis.
created by: Jade Hotchkiss
creation date: 2019-06-06T07:57:10.043528Z

Genotype
type: Class
subclass of: Genetic Phenomena
subclass of: Genetic Disease Cause
definition source: D005838
database cross reference: MESH:D005838
existence in other ontologies: Sufficient
description: The genetic constitution of the individual, comprising the alleles present at each genetic locus.
created by: Jade Hotchkiss
creation date: 2019-06-06T08:03:46.503564Z

Genetic Structure
type: Class
subclass of: Genetic Phenomena
hasExactSynonym: Genetic Structures
definition source: D040342
database cross reference: MESH:D040342
existence in other ontologies: Sufficient
description: A biological object that contains genetic information and that is involved in transmitting genetically encoded traits from one organism to another.
created by: Jade Hotchkiss
creation date: 2019-06-06T08:03:46.504553Z

Diagnostic Instrument
type: Class
subclass of: Diagnostic Tool
hasExactSynonym: Diagnostic Questionnaire
definition source: SCDO_1000033
database cross reference: SCDO:1000033
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-06T08:04:53.846434Z

Diagnostic Technique, Method, Test or Assay
type: Class
subclass of: Diagnostic Tool
hasExactSynonym: Diagnostic Assay
hasExactSynonym: Diagnostic Method
hasExactSynonym: Diagnostic Technique
hasExactSynonym: Diagnostic Test
definition source: SCDO_0000082
database cross reference: SCDO:0000082
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-06T08:04:53.847134Z

Mode of Inheritance
type: Class
subclass of: HIO
hasExactSynonym: Inheritance
definition source: HP_0000005
database cross reference: HP:0000005
existence in other ontologies: Sufficient
description: The pattern in which a particular genetic trait or disorder is passed from one generation to the next.
created by: Jade Hotchkiss
creation date: 2019-06-06T08:08:07.152108Z

Autosomal Recessive
type: Class
subclass of: Mode of Inheritance
hasExactSynonym: Autosomal Recessive Form
hasExactSynonym: Autosomal Recessive Inheritance
hasExactSynonym: Autosomal Recessive Predisposition
definition source: HP_0000007
database cross reference: HP:0000007
existence in other ontologies: Sufficient
description: 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).
created by: Jade Hotchkiss
creation date: 2019-06-06T08:08:44.917476Z

Autosomal Dominant
type: Class
subclass of: Mode of Inheritance
hasExactSynonym: Autosomal Dominant Form
hasExactSynonym: Autosomal Dominant Inheritance
hasExactSynonym: Autosomal Dominant Predisposition
definition source: HP_0000006
database cross reference: HP:0000006
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-06T08:08:44.918569Z

Disease Cause
type: Class
subclass of: Disease Attribute
hasExactSynonym: Disease Etiology
definition source: cause. (n.d.) Saunders Comprehensive Veterinary Dictionary, 3 ed.. (2007). Retrieved July 2 2019 from https://medical-dictionary.thefreedictionary.com/cause
existence in other ontologies: None
curator note: Request inclusion into existing ontology See dc:sources for causes of congenital and acquired hearing loss
creator: HIO (Jade Hotchkiss)
description: An agent, event, condition or characteristic which plays an essential role in producing an occurrence of disease.
source: Acquired-Hearing-Loss
source: Congenital-Hearing-Loss
created by: Jade Hotchkiss
creation date: 2019-06-06T09:25:00.631374Z

Antidepressant-Induced Hearing Impairment
type: Class
subclass of: Drug-Induced Hearing Impairment
hasExactSynonym: Antidepressant Induced Hearing Impairment
hasExactSynonym: Antidepressant Induced Hearing Loss
hasExactSynonym: Antidepressant-Induced Hearing Loss
definition source: EFO_0006324
database cross reference: EFO:0006324
existence in other ontologies: Sufficient
description: Hearing impairment such as ringing in the ears that is the direct result of treatment with antidepressant medication.
created by: Jade Hotchkiss
creation date: 2019-08-14T08:38:56.483586Z

Disease Attribute
type: Class
subclass of: HIO
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: A characteristic of a disease.
created by: Jade Hotchkiss
creation date: 2019-08-14T08:45:38.02359Z

Age of Onset
type: Class
subclass of: Disease Attribute
hasExactSynonym: Age Symptoms Begin
hasExactSynonym: Onset
definition source: HP_0003674
database cross reference: HP:0003674
existence in other ontologies: Sufficient
description: The age group in which disease manifestations appear.
created by: Jade Hotchkiss
creation date: 2019-08-14T08:48:53.204079Z

Mode of Onset
type: Class
subclass of: Disease Attribute
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: The manner in which a disease first manifests.
created by: Jade Hotchkiss
creation date: 2019-08-14T08:48:53.204899Z

Environmental Disease Cause
type: Class
subclass of: Disease Cause
hasExactSynonym: Acquired Disease Cause
hasExactSynonym: External Disease Cause
hasExactSynonym: Extrinsic Disease Cause
hasExactSynonym: Extrinsic Disease Etiology
definition source: etiology-of-disease-definition-example.html
existence in other ontologies: Negligable
curator note: Request inclusion into existing ontology
creator: HIO (Jade Hotchkiss)
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-06T09:31:09.947612Z

Genetic Disease Cause
type: Class
subclass of: Intrinsic Disease Cause
hasExactSynonym: Genetic Cause of Disease
hasExactSynonym: Genetic Cause of Disease, Genetic
existence in other ontologies: None
curator note: Request inclusion into existing ontology
creator: HIO (Jade Hotchkiss)
description: A genetic factor that is able to cause disease.
created by: Jade Hotchkiss
creation date: 2019-06-06T09:31:26.131914Z

Intrinsic Disease Cause
type: Class
subclass of: Disease Cause
hasExactSynonym: Internal Disease Cause
hasExactSynonym: Intrinsic Disease Etiology
definition source: etiology-of-disease-definition-example.html
existence in other ontologies: None
curator note: Request inclusion into existing ontology
creator: HIO (Jade Hotchkiss)
description: A cause of disease that is from inside the body, such as bodily dysfunctions or inherited conditions or disorders.
created by: Jade Hotchkiss
creation date: 2019-06-06T09:34:44.913232Z

Infection
type: Class
subclass of: Environmental Disease Cause
definition source: IDO_0000586
database cross reference: IDO:0000586
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-06T09:39:20.15818Z

Hearing Impairment by Physiopathology Mechanism
type: Class
subclass of: Hearing Impairment
hasExactSynonym: Hearing Impairment by Region of Auditory System
hasExactSynonym: Hearing Impairment by Region of Ear
hasExactSynonym: Hearing Impairment by Site
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: The classification of hearing impairments according to the region of the auditory system that is affected.
created by: Jade Hotchkiss
creation date: 2019-06-06T10:53:43.33207Z

Drug-Induced Hearing Impairment
type: Class
subclass of: Hearing Impairment of Environmental Aetiology
hasExactSynonym: Drug Induced Hearing Impairment
hasExactSynonym: Drug Induced Hearing Loss
hasExactSynonym: Drug-Induced Hearing Loss
definition source: DOID_0070310
database cross reference: DOID:0070310
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in DO
description: A hearing impairment that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity.
created by: Jade Hotchkiss
creation date: 2019-08-14T08:27:30.974668Z

Personal History of Meningitis
type: Class
subclass of: Personal Medical History
existence in other ontologies: None
curator note: Request inclusion into NCIT as a sub-class of "Personal Medical History".
creator: HIO (Jade Hotchkiss)
description: A record of an individual's history of Meningitis.
created by: Jade Hotchkiss
creation date: 2019-08-16T12:20:26.659395Z

Insidious Onset
type: Class
subclass of: Mode of Onset
hasExactSynonym: Gradual Onset
hasExactSynonym: Slow Onset
definition source: HP_0003587
database cross reference: HP:0003587
existence in other ontologies: Sufficient
description: Gradual, very slow onset of disease manifestations.
created by: Jade Hotchkiss
creation date: 2019-08-14T08:59:51.948119Z

Acute Onset
type: Class
subclass of: Mode of Onset
hasExactSynonym: Sudden Onset
definition source: HP_0011009
database cross reference: HP:0011009
existence in other ontologies: Sufficient
description: 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.
created by: Jaded Hotchkiss
creation date: 2019-08-14T09:02:35.402622Z

deprecated - Disorder
type: Class
subclass of: deprecated terms
definition source: OGMS_0000045
database cross reference: OGMS:0000045
existence in other ontologies: Sufficient
description: A material entity which is clinically abnormal and part of an extended organism. Disorders are the physical basis of disease.
created by: Jade Hotchkiss
creation date: 2019-06-06T11:27:13.692977Z
deprecated: true

Injury
type: Class
subclass of: Environmental Disease Cause
hasExactSynonym: Trauma
hasExactSynonym: Wound
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C3671
existence in other ontologies: Sufficient
description: Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity.
source: EFO_0000546
created by: Jade Hotchkiss
creation date: 2019-06-06T11:27:27.276161Z

Accident
type: Class
subclass of: Environmental Disease Cause
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C34340
existence in other ontologies: Sufficient
description: An unforeseen and unplanned event or circumstance frequently causing loss or injury.
created by: Jade Hotchkiss
creation date: 2019-06-06T11:42:23.319481Z

Aging-Related Process
type: Class
subclass of: Intrinsic Disease Cause
hasExactSynonym: Aging Process
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C21172
existence in other ontologies: Sufficient
description: Any physiological aspect of aging; irreversible changes in an organism that occur over time and lead to a more mature condition.
created by: Jade Hotchkiss
creation date: 2019-06-06T11:46:58.773586Z

Aging
type: Class
subclass of: Aging-Related Process
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C16269
existence in other ontologies: Sufficient
description: The process of change in the structure and function of an organism that occurs with the passage of time.
created by: Jade Hotchkiss
creation date: 2019-06-06T11:52:32.472643Z

Senescence
type: Class
subclass of: Aging-Related Process
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C17467
existence in other ontologies: Sufficient
description: The process of growing old and showing the effects of time.
created by: Jade Hotchkiss
creation date: 2019-06-06T11:52:32.473371Z

Hearing Impairment by Stage of Language Development
type: Class
subclass of: Hearing Impairment by Onset
hasExactSynonym: Hearing Loss by Stage of Language Development
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Hearing loss according to when it first occurs with relation to the stage of language development.
created by: Jade Hotchkiss
creation date: 2019-09-04T08:47:06.548209Z

Exposure to Loud Noise
type: Class
subclass of: Environmental Disease Cause
definition source: noise-induced-hearing-loss
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Being in the vicinity of a loud noise such that one is hearing 85 A-weighted decibels (dBA) or more.
created by: Jade Hotchkiss
creation date: 2019-06-06T12:18:55.545407Z

Treatment of Precipitating Factors
type: Class
subclass of: Primary Preventative Therapeutics
hasExactSynonym: Management of Precipitating Factors
hasExactSynonym: Management of Underlying Cause
hasExactSynonym: Treatment of Underlying Cause
definition source: SCDO_1000020
database cross reference: SCDO:1000020
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-07T07:38:15.605441Z

Personal Attribute
type: Class
subclass of: HIO
hasExactSynonym: Subject Characteristics
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C19332
existence in other ontologies: Sufficient
description: The distinguishing qualities or prominent aspects of an individual person.
created by: Jade Hotchkiss
creation date: 2019-06-07T07:38:49.96033Z

Age
type: Class
subclass of: Personal Attribute
hasExactSynonym: Aged
hasExactSynonym: Chronological Age
hasExactSynonym: Postnatal Age
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C25150
existence in other ontologies: Sufficient
curator note: Could add many sub-classes of "Age" from NCIT.
description: How long something has existed; elapsed time since birth.
created by: Jade Hotchkiss
creation date: 2019-06-07T07:39:04.605464Z

Acute Onset over Minutes
type: Class
subclass of: Acute Onset
hasExactSynonym: Acute Emergence Over Minutes
hasExactSynonym: Sudden Onset over Minutes
definition source: HP_0025306
database cross reference: HP:0025306
existence in other ontologies: Sufficient
description: Acute appearance of disease manifestations in a period of minutes.
created by: Jade Hotchkiss
creation date: 2019-08-14T09:07:48.978223Z

Acute Onset over Hours
type: Class
subclass of: Acute Onset
hasExactSynonym: Acute Emergence Over Hours
hasExactSynonym: Sudden Onset over Hours
definition source: HP_0025307
database cross reference: HP:0025307
existence in other ontologies: Sufficient
description: Acute appearance of disease manifestations in a period of hours.
created by: Jade Hotchkiss
creation date: 2019-08-14T09:07:48.979067Z

Acute Onset over Days
type: Class
subclass of: Acute Onset
hasExactSynonym: Acute Emergence Over Days
hasExactSynonym: Sudden Onset over Days
definition source: HP_0025308
database cross reference: HP:0025308
existence in other ontologies: Sufficient
description: Acute appearance of disease manifestations in a period of hours.
created by: Jade Hotchkiss
creation date: 2019-08-14T09:08:15.546154Z

Unknown Etiology
type: Class
subclass of: Disease Cause
hasExactSynonym: Unknown Cause of Disease
hasExactSynonym: Unknown Disease Cause
existence in other ontologies: None
curator note: Request inclusion into existing ontology
creator: HIO (Jade Hotchkiss)
description: When the cause of a disease is unknown.
created by: Jade Hotchkiss
creation date: 2019-06-07T09:38:07.206007Z

Adult Onset
type: Class
subclass of: Age of Onset
hasExactSynonym: Onset in Adulthood
hasExactSynonym: Symptoms Begin in Adulthood
definition source: HP_0003581
database cross reference: HP:0003581
existence in other ontologies: Sufficient
description: Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
created by: Jade Hotchkiss
creation date: 2019-08-14T10:21:13.325265Z

Molecular Phenotype
type: Class
subclass of: Phenotype
definition source: http://bioportal.bioontology.org/ontologies/BAO
definition source: BAO_0170001
database cross reference: BAO:0170001
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-07T11:06:20.029935Z

Protein Phenotype
type: Class
subclass of: Molecular Phenotype
definition source: SCDO_0009613
database cross reference: SCDO:0009613
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into BioAssayontology. Update at a later stage if necessary.
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-07T11:06:43.951718Z

Abnormal Protein
type: Class
subclass of: Protein Phenotype
subclass of: Gene Product
created by: Jade Hotchkiss
creation date: 2019-06-07T11:07:05.334142Z

Hearing Aid
type: Class
subclass of: Therapeutic Device
definition source: http://bioportal.bioontology.org/ontologies/CRISP
database cross reference: CRISP:0977-5562
existence in other ontologies: Sufficient
description: Wearable sound-amplifying devices that are intended to compensate for impaired hearing; devices include air-conduction hearing aids and bone-conduction hearing aids.
created by: Jade Hotchkiss
creation date: 2019-06-10T08:26:53.430403Z

Vibrotactile Device
type: Class
subclass of: Therapeutic Device
definition source: https://www.medicinenet.com/script/main/art.asp
existence in other ontologies: None
creator: HIO (Samuel Mawuli Adadey)
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-10T08:26:53.431183Z

Rehabilitation
type: Class
subclass of: Supportive Therapeutics
hasExactSynonym: Habilitation
definition source: D012046
database cross reference: MESH:D012046
existence in other ontologies: Sufficient
description: Restoration of human functions to the maximum degree possible in a person or persons suffering from disease or injury.
created by: Jade Hotchkiss
creation date: 2019-06-10T08:31:00.270694Z

Speech Therapy
type: Class
subclass of: Rehabilitation
subclass of: Improvement of Communication Skills
created by: Jade Hotchkiss
creation date: 2019-06-10T08:32:43.334019Z

Improvement of Communication Skills
type: Class
subclass of: Lifestyle Therapy
created by: Jade Hotchkiss
creation date: 2019-06-10T08:36:15.939573Z

Sign Language
type: Class
subclass of: Improvement of Communication Skills
created by: Jade Hotchkiss
creation date: 2019-06-10T08:37:01.514685Z

Lip Reading
type: Class
subclass of: Improvement of Communication Skills
created by: Jade Hotchkiss
creation date: 2019-06-10T08:37:36.381138Z

Gene Therapy
type: Class
subclass of: Curative Therapeutics
hasExactSynonym: DNA Therapy
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C15238
existence in other ontologies: Sufficient
description: Application of genetic material (usually DNA) into cells in order to permanently correct an inherited disease or acquired disease.
created by: Jade Hotchkiss
creation date: 2019-06-10T08:42:38.190718Z

Surgery
type: Class
subclass of: Symptomatic Therapeutics
definition source: ERO_0000378
database cross reference: ERO:0000378
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-10T08:57:23.649106Z

Otologic Surgery
type: Class
subclass of: Surgery
hasExactSynonym: Otologic Surgical Procedure
definition source: D013506
database cross reference: MESH:D013506
existence in other ontologies: Sufficient
description: Surgery performed on the external, middle, or internal ear.
created by: Jade Hotchkiss
creation date: 2019-06-10T08:57:23.649868Z

Plastic Surgery
type: Class
subclass of: Surgery
hasExactSynonym: Cosmetic Surgery
definition source: D013518
database cross reference: MESH:D013518
description: The branch of surgery concerned with restoration, reconstruction, or improvement of defective, damaged, or missing structures.
created by: Jade Hotchkiss
creation date: 2019-06-10T08:57:23.650596Z

Cleft Palate Surgery
type: Class
subclass of: Plastic Surgery
created by: Jade Hotchkiss
creation date: 2019-06-10T08:57:23.651309Z

Cleft Lips Surgery
type: Class
subclass of: Plastic Surgery
created by: Jade Hotchkiss
creation date: 2019-06-10T08:57:23.652035Z

Craniofacial Surgery
type: Class
subclass of: Plastic Surgery
created by: Jade Hotchkiss
creation date: 2019-06-10T08:57:23.652737Z

Branchial Cysts and Fistula Surgery
type: Class
subclass of: Plastic Surgery
created by: Jade Hotchkiss
creation date: 2019-06-10T08:57:23.653449Z

Antiarrhythmic Drug
type: Class
subclass of: Drug
subclass of: Treatment of Cardiac Complications
hasExactSynonym: Anti-arrhythmic Agent
hasExactSynonym: Antiarrhythmic Agent
hasExactSynonym: Cardiac Depressant
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C47793
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-10T09:15:09.499661Z

Beta-Adrenergic Blocker
type: Class
subclass of: Antiarrhythmic Drug
hasExactSynonym: Beta-Adrenergic Antagonist
hasExactSynonym: Beta-Adrenergic Blocker
hasExactSynonym: Beta-Adrenergic Blockers
hasExactSynonym: Beta-Adrenergic Receptor Blockaders
hasExactSynonym: Beta-Adrenoceptor Antagonists
hasExactSynonym: Beta-Blocker
hasExactSynonym: Beta-Blockers
definition source: CHEBI_35530
database cross reference: CHEBI:35530
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-10T09:16:39.394472Z

Hormone Replacement Therapy
type: Class
subclass of: Symptomatic Therapeutics
subclass of: Treatment of Endocrine Complications
hasExactSynonym: HRT
definition source: D020249
database cross reference: MESH:D020249
existence in other ontologies: Sufficient
description: Therapeutic use of hormones to alleviate the effects of hormone deficiency.
created by: Jade Hotchkiss
creation date: 2019-06-10T09:23:22.240391Z

Estrogen Replacement Therapy
type: Class
subclass of: Hormone Replacement Therapy
hasExactSynonym: Replacements, Estrogen
definition source: D015914
database cross reference: MESH:D01591
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-10T09:26:40.353276Z

Cochlear Implantation
type: Class
subclass of: Curative Therapeutics
subclass of: Otologic Surgery
subclass of: Treatment of Hearing Loss
hasExactSynonym: Cochlear Implantations
hasExactSynonym: Cochlear Prosthesis Implantation
hasExactSynonym: Cochlear Prosthesis Implantations
hasExactSynonym: Prosthesis Implantation, Cochlear
definition source: D019929
database cross reference: MESH:D019929
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-10T09:31:58.774938Z

Goitre Surgery
type: Class
subclass of: Surgery
subclass of: Treatment of Endocrine Complications
hasExactSynonym: Thyroid Surgery
hasExactSynonym: Thyroidectomy
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C51648
existence in other ontologies: Sufficient
description: Surgery to remove part or all of the thyroid gland.
created by: Jade Hotchkiss
creation date: 2019-06-10T09:41:28.840806Z

Antithyroid Drug
type: Class
subclass of: Drug
subclass of: Treatment of Endocrine Complications
hasExactSynonym: Antithyroid Agent
definition source: CHEBI_50671
database cross reference: CHEBI:50671
existence in other ontologies: Sufficient
description: A drug used to treat hyperthyroidism by reducing the excessive production of thyroid hormones.
created by: Jade Hotchkiss
creation date: 2019-06-10T09:42:59.275375Z

Ophthalmologic Surgical Procedure
type: Class
subclass of: Surgery
subclass of: Treatment of Ophthalmologic Complications
hasExactSynonym: Ophthalmologic Surgical Procedures
hasExactSynonym: Ophthalmological Surgical Procedure
definition source: D013508
database cross reference: MESH:D013508
existence in other ontologies: Sufficient
description: Surgery performed on the eye or any of its parts.
created by: Jade Hotchkiss
creation date: 2019-06-10T09:50:30.379191Z
preferred label: Ophthalmologic Surgery

Lens Extraction
type: Class
subclass of: Ophthalmologic Surgical Procedure
created by: Jade Hotchkiss
creation date: 2019-06-10T09:52:03.253478Z

Retinal Prosthesis
type: Class
subclass of: Ophthalmologic Surgical Procedure
created by: Jade Hotchkiss
creation date: 2019-06-10T09:52:03.254251Z

Optical Aid
type: Class
subclass of: Therapeutic Device
created by: Jade Hotchkiss
creation date: 2019-06-10T09:53:35.858373Z

Eye Drops
type: Class
subclass of: Symptomatic Therapeutics
subclass of: Treatment of Ophthalmologic Complications
created by: Jade Hotchkiss
creation date: 2019-06-10T09:54:25.590573Z

Orthopaedic Surgery
type: Class
subclass of: Surgery
created by: Jade Hotchkiss
creation date: 2019-06-10T09:56:26.760283Z

Intestinal Transplantation
type: Class
subclass of: Digestive System Surgery
created by: Jade Hotchkiss
creation date: 2019-06-10T10:05:58.670589Z

Digestive System Surgery
type: Class
subclass of: Surgery
hasExactSynonym: Digestive Surgery
hasExactSynonym: Digestive System Operative Procedure
hasExactSynonym: Digestive System Surgical Procedure
hasExactSynonym: Gastrointestinal Surgical Procedure
hasExactSynonym: Gastrointestinal System Operative Procedure
hasExactSynonym: Operative Procedure on the Digestive System
hasExactSynonym: Operative Procedure on the Gastrointestinal System
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C15330
existence in other ontologies: Sufficient
description: Surgery performed on any part of the digestive system.
created by: Jade Hotchkiss
creation date: 2019-06-10T10:06:10.664753Z

Primary Preventative Therapeutics
type: Class
subclass of: Preventative Therapeutics
created by: Jade Hotchkiss
creation date: 2019-06-10T10:31:18.084801Z

Secondary Preventative Therapeutics
type: Class
subclass of: Preventative Therapeutics
created by: Jade Hotchkiss
creation date: 2019-06-10T10:31:18.08557Z

Audiologic Surveillance
type: Class
subclass of: Secondary Preventative Therapeutics
definition source: https://www.asha.org/articlesummary.aspx
existence in other ontologies: None
creator: HIO (Samuel Mawuli Adadey)
description: Early identification, surveillance, and monitoring of individuals (especially children) for permanent hearing loss.
created by: Jade Hotchkiss
creation date: 2019-06-10T10:37:13.042567Z

Clinical Surveillance
type: Class
subclass of: Secondary Preventative Therapeutics
hasExactSynonym: Newborn Hearing Screening
definition source: PMC3114997
database cross reference: PMC3114997
existence in other ontologies: None
creator: HIO (Samuel Mawuli Adadey)
description: Clinical screening of hearing impairment as part of the universal newborn hearing screening.
created by: Jade Hotchkiss
creation date: 2019-06-10T10:37:13.0433Z

Paraclinical Surveillance
type: Class
subclass of: Secondary Preventative Therapeutics
definition source: deafness-and-hearing-loss
existence in other ontologies: None
creator: HIO (Samuel Mawuli Adadey)
description: 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;
created by: Jade Hotchkiss
creation date: 2019-06-10T10:37:13.043981Z

Identification and Treatment of Superimposed Hearing Loss Aetiologies
type: Class
subclass of: Secondary Preventative Therapeutics
created by: Jade Hotchkiss
creation date: 2019-06-10T10:41:25.618062Z

Scleral Buckling
type: Class
subclass of: Ophthalmologic Surgical Procedure
hasExactSynonym: Scleral Buckle Surgery
hasExactSynonym: Scleral Bucklings
definition source: D012591
database cross reference: MESH:D012591
existence in other ontologies: Sufficient
description: An operation for retinal detachment which reduces the size of the globe by indenting the sclera so that it approximates the retina.
created by: Jade Hotchkiss
creation date: 2019-06-10T11:17:02.63582Z

Genetic Counseling
type: Class
subclass of: Primary Preventative Therapeutics
hasExactSynonym: Prenatal Genetic Counseling
definition source: D005817
database cross reference: MESH:D005817
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-10T10:45:59.617143Z

Neonatal Screening
type: Class
subclass of: Therapeutic Screening
hasExactSynonym: Newborn Infant Screening
definition source: D015997
database cross reference: MESH:D015997
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-10T10:48:04.903652Z

Exposure Avoidance
type: Class
subclass of: Primary Preventative Therapeutics
definition source: deafness-and-hearing-loss
existence in other ontologies: None
creator: HIO (Samuel Mawuli Adadey)
description: Reducing exposure to environmental risk factors which may be harmful to hearing.
created by: Jade Hotchkiss
creation date: 2019-06-10T10:53:48.414847Z

Avoidance of Noise
type: Class
subclass of: Exposure Avoidance
definition source: deafness-and-hearing-loss
existence in other ontologies: None
creator: HIO (Samuel Mawuli Adadey)
description: Reducing exposure to both occupational and recreational loud sound.
created by: Jade Hotchkiss
creation date: 2019-06-10T10:54:46.014864Z

Avoidance of Radiation Therapy During First Trimester of Pregnancy
type: Class
subclass of: Exposure Avoidance
created by: Jade Hotchkiss
creation date: 2019-06-10T10:54:46.01566Z

Early Diagnosis of Precipitating Factors
type: Class
subclass of: Primary Preventative Therapeutics
created by: Jade Hotchkiss
creation date: 2019-06-10T11:06:05.820516Z

Proper Use of Ototoxic Drugs
type: Class
subclass of: Exposure Avoidance
definition source: deafness-and-hearing-loss
existence in other ontologies: None
creator: HIO (Samuel Mawuli Adadey)
description: Avoiding the use of particular drugs which may be harmful to hearing, unless prescribed and monitored by a qualified physician
created by: Jade Hotchkiss
creation date: 2019-06-10T11:09:18.070327Z

Vitrectomy
type: Class
subclass of: Ophthalmologic Surgical Procedure
hasExactSynonym: Vitrectomies
definition source: D014821
database cross reference: MESH:D014821
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-10T11:17:02.636611Z

Pneumatic Retinopexy
type: Class
subclass of: Ophthalmologic Surgical Procedure
definition source: SCDO_0000908
database cross reference: SCDO:0000908
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-10T11:19:29.575066Z

Trabeculectomy
type: Class
subclass of: Ophthalmologic Surgical Procedure
hasExactSynonym: Goniotomies
hasExactSynonym: Goniotomy
hasExactSynonym: Trabeculoplasties
hasExactSynonym: Trabeculoplasty
definition source: D014130
database cross reference: MESH:D014130
existence in other ontologies: Sufficient
description: Any surgical procedure for treatment of glaucoma by means of puncture or reshaping of the trabecular meshwork. It includes goniotomy, trabeculectomy, and laser perforation.
created by: Jade Hotchkiss
creation date: 2019-06-10T11:37:24.863335Z

Laser Therapy
type: Class
subclass of: Symptomatic Therapeutics
subclass of: Treatment of Ophthalmologic Complications
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C15466
existence in other ontologies: Sufficient
description: Any procedure in which an intense beam of light is used to cut, burn, or destroy tissue.
created by: Jade Hotchkiss
creation date: 2019-06-10T12:45:48.879769Z

Vaccination
type: Class
subclass of: Immunization
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C15346
existence in other ontologies: Sufficient
description: Administration of vaccines to stimulate the host's immune response. This includes any preparation intended for active immunological prophylaxis or treatment.
created by: Jade Hotchkiss
creation date: 2019-06-10T14:49:22.884714Z

Adequate Labour and Delivery Monitoring
type: Class
subclass of: Primary Preventative Therapeutics
created by: Jade Hotchkiss
creation date: 2019-06-10T14:58:30.409307Z

Adequate Pregnancy Monitoring
type: Class
subclass of: Primary Preventative Therapeutics
created by: Jade Hotchkiss
creation date: 2019-06-10T14:58:59.008584Z

Screening of Relative at Risk
type: Class
subclass of: Therapeutic Screening
created by: Jade Hotchkiss
creation date: 2019-06-10T15:07:46.624159Z

Therapeutic Screening
type: Class
subclass of: Primary Preventative Therapeutics
existence in other ontologies: None
creator: HIO (Samuel Mawuli Adadey)
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-10T15:08:01.8496Z

Treatment by Phenotye
type: Class
subclass of: Therapeutics
created by: Jade Hotchkiss
creation date: 2019-06-10T15:11:18.765042Z

Treatment of Renal Complications
type: Class
subclass of: Treatment by Phenotye
created by: Jade Hotchkiss
creation date: 2019-06-10T15:13:30.595069Z

Treatment of Dermatologic Complications
type: Class
subclass of: Treatment by Phenotye
created by: Jade Hotchkiss
creation date: 2019-06-10T15:13:30.595842Z

Treatment of Ophthalmologic Complications
type: Class
subclass of: Treatment by Phenotye
created by: Jade Hotchkiss
creation date: 2019-06-10T15:13:30.596585Z

Treatment of Endocrine Complications
type: Class
subclass of: Treatment by Phenotye
created by: Jade Hotchkiss
creation date: 2019-06-10T15:13:30.597334Z

Treatment of Cardiac Complications
type: Class
subclass of: Treatment by Phenotye
created by: Jade Hotchkiss
creation date: 2019-06-10T15:13:30.598077Z

Treatment of Hearing Loss
type: Class
subclass of: Treatment by Phenotye
created by: Jade Hotchkiss
creation date: 2019-06-10T15:13:30.598806Z

Congenital Heart Surgery
type: Class
subclass of: Cardiac Surgery
created by: Jade Hotchkiss
creation date: 2019-06-10T15:18:58.974542Z

Implantable Cardioverter Defibrillator
type: Class
subclass of: Therapeutic Device
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: ICD
database cross reference: ICDs
database cross reference: NCIT:C93238
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-10T15:22:34.919079Z

Cardioverter Defibrillator Implantation
type: Class
subclass of: Cardiac Surgery
created by: Jade Hotchkiss
creation date: 2019-06-10T15:25:18.053603Z

Cardiac Surgery
type: Class
subclass of: Surgery
subclass of: Treatment of Cardiac Complications
hasExactSynonym: Heart Surgery
hasExactSynonym: Pericardiotomy
definition source: http://bioportal.bioontology.org/ontologies/CRISP
database cross reference: CRISP:1397-6326
existence in other ontologies: Sufficient
description: Procedures performed on the heart, used in the treatment of disease, injuries, or deformities.
created by: Jade Hotchkiss
creation date: 2019-06-10T15:31:06.605473Z

Renal Dialysis
type: Class
subclass of: Renal Replacement Therapy
hasExactSynonym: Dialyses, Renal
hasExactSynonym: Extracorporeal Dialyses
hasExactSynonym: Extracorporeal Dialysis
hasExactSynonym: Haemodialysis
hasExactSynonym: Hemodialyses
hasExactSynonym: Renal Dialyses
definition source: D006435
database cross reference: MESH:D006435
existence in other ontologies: Sufficient
description: Therapy for the insufficient cleansing of the BLOOD by the kidneys based on dialysis and including hemodialysis, peritoneal dialysis, and hemodiafiltration.
created by: Jade Hotchkiss
creation date: 2019-06-10T18:35:40.778804Z

Renal Transplant
type: Class
subclass of: Renal Replacement Therapy
hasExactSynonym: Kidney Grafting
hasExactSynonym: Kidney Transplantation
hasExactSynonym: Kidney Transplantations
hasExactSynonym: Renal Transplantation
hasExactSynonym: Renal Transplantations
definition source: D016030
database cross reference: MESH:D016030
existence in other ontologies: Sufficient
description: The transference of a kidney from one human or animal to another.
created by: Jade Hotchkiss
creation date: 2019-06-10T18:38:23.42415Z

Renal Replacement Therapy
type: Class
subclass of: Supportive Therapeutics
subclass of: Treatment of Renal Complications
definition source: D017582
database cross reference: MESH:D017582
existence in other ontologies: Sufficient
description: Procedures which temporarily or permanently remedy insufficient cleansing of body fluids by the kidneys.
created by: Jade Hotchkiss
creation date: 2019-06-10T18:38:23.424953Z

Resection and Anastomosis of Intestine
type: Class
subclass of: Digestive System Surgery
created by: Jade Hotchkiss
creation date: 2019-06-10T18:44:06.519854Z

Skin Softening Emollients
type: Class
subclass of: Treatment of Dermatologic Complications
created by: Jade Hotchkiss
creation date: 2019-06-10T18:46:48.703708Z

Auditory Brainstem Implantation
type: Class
subclass of: Otologic Surgery
subclass of: Treatment of Hearing Loss
hasExactSynonym: Auditory Brain Stem Implantation
definition source: D038263
database cross reference: MESH:D038263
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-10T19:02:37.723099Z

Cochlear Implant
type: Class
subclass of: Therapeutic Device
hasExactSynonym: Cochlear Prosthesis
definition source: D003054
database cross reference: MESH:D003054
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-10T19:07:21.116032Z

Auditory Midbrain Implantation
type: Class
subclass of: Otologic Surgery
subclass of: Treatment of Hearing Loss
definition source: D038263
database cross reference: MESH:D038263
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-10T19:19:45.649098Z

Thyroid Hormone Replacement Therapy
type: Class
subclass of: Hormone Replacement Therapy
created by: Jade Hotchkiss
creation date: 2019-06-10T19:36:26.276464Z

Testosterone Replacement Therapy
type: Class
subclass of: Hormone Replacement Therapy
created by: Jade Hotchkiss
creation date: 2019-06-10T19:41:45.504913Z

Endocrine Drug
type: Class
subclass of: Drug
hasExactSynonym: Endocrine System Drug
hasExactSynonym: Endocrinology Drug
definition source: https://www.ncbi.nlm.nih.gov/pubmed/24365354
database cross reference: PMID: 24365354
existence in other ontologies: Few but definitions not available
description: Agents directed to a malfunctioning endocrine path.
created by: Jade Hotchkiss
creation date: 2019-06-10T19:49:16.324675Z

Insulin
type: Class
subclass of: Endocrine Drug
hasExactSynonym: Sodium Insulin
definition source: D007328
database cross reference: MESH:D007328
existence in other ontologies: Sufficient
description: 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).
created by: Jade Hotchkiss
creation date: 2019-06-10T19:50:47.249828Z

Estrogen
type: Class
subclass of: Endocrine Drug
hasExactSynonym: Estrogen Replacement Therapy
hasExactSynonym: Estrogen Sulfate
hasExactSynonym: Estrogen Sulphate
hasExactSynonym: Premarin
definition source: http://bioportal.bioontology.org/ontologies/CRISP/
database cross reference: CRISP:1065-6197
existence in other ontologies: Sufficient
description: Hormones which stimulate the female reproductive organs, and the development of secondary female sex characteristics.
created by: Jade Hotchkiss
creation date: 2019-06-10T19:53:43.564342Z

Thyroid Hormone
type: Class
subclass of: Endocrine Drug
hasExactSynonym: Thyroid Gland Hormone
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C886
existence in other ontologies: Sufficient
description: Any of several closely related compounds that are produced by the thyroid gland and are active metabolically.
created by: Jade Hotchkiss
creation date: 2019-06-10T19:53:55.978928Z

Testosterone
type: Class
subclass of: Endocrine Drug
hasExactSynonym: 4-androsten-17beta-ol-3-one
created by: Jade Hotchkiss
creation date: 2019-06-10T19:54:06.965261Z

Insulin Therapy
type: Class
subclass of: Hormone Replacement Therapy
created by: Jade Hotchkiss
creation date: 2019-06-10T19:59:11.100659Z

Desmopressin
type: Class
subclass of: Endocrine Drug
hasExactSynonym: DDAVP
hasExactSynonym: Desmopressine
definition source: CHEBI 4450
database cross reference: CHEBI:450
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-10T20:04:18.520855Z

Vasopressin Replacement Therapy
type: Class
subclass of: Hormone Replacement Therapy
created by: Jade Hotchkiss
creation date: 2019-06-10T20:08:46.518885Z

Crouzon Syndrome
type: Class
subclass of: Syndrome Associated with Hearing Impairment
subclass of: Restriction
  on property: treated with
  some values from: Otologic Surgery
hasExactSynonym: Craniofacial Dysostosis
definition source: HP_0004439
database cross reference: HP:0004439
existence in other ontologies: Sufficient
description: A characteristic appearance resulting from defective ossification of craniofacial bones.
source: HP_0004439
created by: Jade Hotchkiss
creation date: 2019-06-14T10:39:55.08973Z
comment: 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.

Ototoxicity
type: Class
subclass of: Injury of Inner Ear
definition source: EFO_0006951
database cross reference: NCIT:C66929
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-14T11:00:46.433799Z

Ocular Injury
type: Class
subclass of: Injury
hasExactSynonym: Eye Injury
hasExactSynonym: Injury of Eye Region
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C34602
existence in other ontologies: Sufficient
description: Damage to the eye.
created by: Jade Hotchkiss
creation date: 2019-06-14T11:00:46.434655Z

Abnormality of the Ear
type: Class
subclass of: Abnormal Phenotype
hasExactSynonym: Ear Anomaly
definition source: HP_0031704
database cross reference: HP:0031704
existence in other ontologies: Sufficient
description: Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. An abnormality of the ear.
created by: Jade Hotchkiss
creation date: 2019-06-14T11:04:30.619622Z

Heimler Syndrome
type: Class
subclass of: Syndromic Hearing Impairment
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Recessive
hasExactSynonym: Deafness Enamel Hypoplasia Nail Defects
hasExactSynonym: Deafness, Enamel Hypoplasia, Nail Defect Syndrome
hasExactSynonym: Deafness, Enamel Hypoplasia, Nail Defect Syndrome (Disorder)
definition source: HIO_721085000
database cross reference: SNOMEDCT:721085000
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-14T11:27:29.480154Z

Presbycusis
type: Class
subclass of: Aging-Related Process
hasExactSynonym: Age-Related Hearing Loss
hasExactSynonym: Senile Deafness
definition source: D011304
database cross reference: MESH:D011304
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-14T11:28:11.27961Z

Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss Syndrome
type: Class
subclass of: Sensorineural Hearing Impairment
subclass of: Syndromic Hearing Impairment
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: ATP1A3
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Dominant
subclass of: Restriction
  on property: condition has causal or contributing genetic variation
  some values from: ATP1A3, GLU818LYS
hasExactSynonym: CAPOS
hasExactSynonym: CAPOS Syndrome
hasExactSynonym: Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss (CAPOS) Syndrome
definition source: http://identifiers.org/omim/601338
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-14T11:40:18.699708Z

Heimler Syndrome 1
type: Class
subclass of: Heimler Syndrome
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: PEX1
hasExactSynonym: HMLR1
hasExactSynonym: Hearing Loss, Sensorineural, With Enamel Hypoplasia and Nail Defects
hasExactSynonym: PBD1C
hasExactSynonym: Peroxisome Biogenesis Disorder 1C
definition source: https://www.omim.org/entry/234580
definition source: DI-04563
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in OMIM: http://purl.bioontology.org/ontology/OMIM/234580
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-14T11:42:40.958647Z

Heimler Syndrome 2
type: Class
subclass of: Heimler Syndrome
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: PEX6
hasExactSynonym: HMLR2
hasExactSynonym: PBD4C
hasExactSynonym: Peroxisome Biogenesis Disorder 4C
definition source: https://www.omim.org/entry/616617
definition source: DI-04564
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in OMIM: http://purl.bioontology.org/ontology/OMIM/616617
description: 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.
created by: Jade Hotchkiss
creation date: 2019-06-14T11:42:40.95982Z

Cisplatin
type: Class
subclass of: Drug
subclass of: Therapeutic Disease Cause
created by: Jade Hotchkiss
creation date: 2019-06-14T12:02:48.434014Z

Physical Examination
type: Class
subclass of: Diagnostic Technique, Method, Test or Assay
hasExactSynonym: Physical Assessment
definition source: D010808
database cross reference: MESH:D010808
existence in other ontologies: Sufficient
description: Systematic and thorough inspection of the patient for physical signs of disease or abnormality.
created by: Jade Hotchkiss
creation date: 2019-06-14T12:22:52.239701Z

ATP1A3, GLU818LYS
type: Class
subclass of: Missense Mutation
hasExactSynonym: E818K
definition source: https://omim.org/entry/182350#0014
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in OMIM ontology on BioPortal
creator: HIO (Jade Hotchkiss)
description: A heterozygous missense mutation in the ATP1A3 gene, where a glutamic acid residue is substituted with a lysine residue at position 818.
created by: Jade Hotchkiss
creation date: 2019-06-14T12:30:32.12598Z
comment: Not clear whether this is a loss or gain of function mutation.

Mutation
type: Class
subclass of: Genetic Variation
definition source: IDOMAL_50000026
database cross reference: IDOMAL:50000026
existence in other ontologies: Sufficient
description: A permanent change in the DNA sequence of a gene that alters the genetic message carried by that gene.
created by: Jade Hotchkiss
creation date: 2019-06-14T12:31:32.180131Z

ATP1A3
type: Class
subclass of: Gene
subclass of: Restriction
  on property: has gene product
  some values from: Sodium/Potassium-Transporting ATPase Subunit Alpha-3
subclass of: Restriction
  on property: has genetic variation
  some values from: ATP1A3, GLU818LYS
created by: Jade Hotchkiss
creation date: 2019-06-14T12:33:23.100751Z

WFS1
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-06-14T12:34:11.668526Z

CISD2
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-06-14T12:34:11.669382Z

FOXC1
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-06-14T12:34:11.670206Z

EYA4
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-06-14T12:34:11.671012Z

MYH9
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-06-14T12:34:11.671818Z

DIAPH1
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-06-14T12:34:11.672612Z

KCNQ4
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-06-14T12:34:11.673419Z

Pediatric Onset
type: Class
subclass of: Age of Onset
hasExactSynonym: Onset Before Adulthood
definition source: HP_0410280
database cross reference: HP:0410280
existence in other ontologies: Sufficient
description: Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset.
created by: Jade Hotchkiss
creation date: 2019-08-14T10:23:41.245255Z

Cisplatin-Induced Hearing Impairment
type: Class
subclass of: Drug-Induced Hearing Impairment
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: TPMT
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: COMT
subclass of: Restriction
  on property: induced by
  some values from: Cisplatin
hasExactSynonym: CIHL
hasExactSynonym: Cisplatin-Induced Hearing Loss
definition source: https://omim.org/entry/613290
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Hearing loss caused by cisplatin (a chemotherapeutic agent) ototoxicity.
source: https://omim.org/entry/613290
created by: Jade Hotchkiss
creation date: 2019-06-14T12:45:56.239569Z

Therapeutic Disease Cause
type: Class
subclass of: Environmental Disease Cause
existence in other ontologies: None
curator note: Request inclusion into existing ontology
description: A cause of disease that is (at least initially) external to the organism and is part of a form of therapy.
description: HIO (Jade Hotchkiss)
created by: Jade Hotchkiss
creation date: 2019-06-14T12:50:20.859558Z

Mitochondrial Inheritance
type: Class
subclass of: Mode of Inheritance
definition source: HP_0001427
database cross reference: HP:0001427
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-07-01T12:17:42.699043Z

Sex-Linked Inheritance
type: Class
subclass of: Mode of Inheritance
hasExactSynonym: Gonosomal Inheritance
definition source: HP_0010985
database cross reference: HP:0010985
existence in other ontologies: Sufficient
description: A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes (X and Y).
created by: Jade Hotchkiss
creation date: 2019-07-01T12:17:42.700176Z

Occupational Exposure to Loud Noise
type: Class
subclass of: Exposure to Loud Noise
definition source: HIO_10030019
definition source: noise-induced-hearing-loss
database cross reference: MEDDRA:10030019
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in MEDDRA (currently no description).
creator: HIO (Jade Hotchkiss)
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.
created by: Jade Hotchkiss
creation date: 2019-07-02T12:03:19.243225Z

Recreational Exposure to Loud Noise
type: Class
subclass of: Exposure to Loud Noise
definition source: noise-induced-hearing-loss
existence in other ontologies: None
curator note: Request inclusion into existing ontology
creator: HIO (Jade Hotchkiss)
description: 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.
created by: Jade Hotchkiss
creation date: 2019-07-02T12:03:19.244207Z

Ear Injury
type: Class
subclass of: Injury
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C35348
existence in other ontologies: Sufficient
description: Trauma to the ear.
created by: Jade Hotchkiss
creation date: 2019-07-02T12:40:18.724174Z

Injury of Inner Ear
type: Class
subclass of: Ear Injury
hasExactSynonym: Inner Ear Injury
definition source: details
database cross reference: NCIT:C27160
existence in other ontologies: Suggest update to description (currently no description)
curator note: Suggest update to description in NCIT (currently no description).
creator: HIO (Jade Hotchkiss)
description: Damage to the inner ear.
created by: Jade Hotchkiss
creation date: 2019-07-02T12:44:38.274614Z

Acoustic Trauma
type: Class
subclass of: Injury of Inner Ear
hasExactSynonym: Blast Injury
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C50453
existence in other ontologies: Sufficient
description: Injury to the hearing mechanisms within the inner ear, caused by excessively loud noise.
source: what causes hearing loss
created by: Jade Hotchkiss
creation date: 2019-07-02T12:46:54.777194Z

Intraoperative Ear Injury
type: Class
subclass of: Ear Injury
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C78378
existence in other ontologies: Sufficient
description: Damage to the ear during a surgical procedure.
created by: Jade Hotchkiss
creation date: 2019-07-02T12:48:31.048909Z

Pseudo-Dominant Inheritance
type: Class
subclass of: Mode of Inheritance
hasExactSynonym: Pseudodominance
hasExactSynonym: Pseudodominant Inheritance
definition source: Pseudodominance
existence in other ontologies: None
curator note: Suggest inclusion into HPO
creator: HIO (Jade Hotchkiss)
description: When the inheritance of a recessive trait mimics a dominant pattern of inheritance.
created by: Jade Hotchkiss
creation date: 2019-07-17T14:55:08.318465Z

Multifactorial Inheritance
type: Class
subclass of: Mode of Inheritance
definition source: HP_0001426
database cross reference: HP:0001426
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-07-17T14:58:46.068393Z

KCNQ1
type: Class
subclass of: Gene
subclass of: Restriction
  on property: has gene product
  some values from: Potassium Voltage-Gated Channel Subfamily KQT Member 1
hasExactSynonym: KCNQ1 Gene
definition source: DTO_01200232
database cross reference: DTO:01200232
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-07-18T08:17:56.932257Z

KCNE1
type: Class
subclass of: Gene
hasExactSynonym: KCNE1 Gene
definition source: DTO_01200196
database cross reference: DTO:01200196
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-07-18T08:18:44.749515Z

Hearing Impairment by Ear Affected
type: Class
subclass of: Hearing Impairment
hasExactSynonym: Hearing Impairment by Ear
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: The classification of hearing impairments according to the ear that is involved in the hearing impairment.
created by: Jade Hotchkiss
creation date: 2019-09-02T09:17:42.281181Z

Nonsyndromic Hearing Impairment, Autosomal Dominant
type: Class
subclass of: Nonsyndromic Hearing Impairment
hasExactSynonym: Autosomal Dominant Nonsyndromic Deafness
hasExactSynonym: Nonsyndromic Deafness, Autosomal Dominant
definition source: DOID_0050564
database cross reference: DOID:0050564
existence in other ontologies: Sufficient
curator note: Add synonyms and sub-classes of "autosomal dominant nonsyndromic deafness" from MONDO (see dc:source)
description: A nonsyndromic deafness characterized by an autosomal dominant inheritance mode.
source: http://bioportal.bioontology.org/ontologies/MONDO/
created by: Jade Hotchkiss
creation date: 2019-07-18T08:28:01.474936Z

Nonsyndromic Hearing Impairment, Autosomal Recessive
type: Class
subclass of: Nonsyndromic Hearing Impairment
hasExactSynonym: Autosomal Recessive Nonsyndromic Deafness
hasExactSynonym: Nonsyndromic Deafness, Autosomal Recessive
definition source: DOID_0050565
database cross reference: DOID:0050565
existence in other ontologies: Sufficient
curator note: Add synonyms and sub-classes of "autosomal recessive nonsyndromic deafness" from MONDO (see dc:source)
description: A nonsyndromic deafness characterized by an autosomal recessive inheritance mode.
source: http://bioportal.bioontology.org/ontologies/MONDO/
created by: Jade Hotchkiss
creation date: 2019-07-18T08:32:40.345823Z

Nonsyndromic Hearing Impairment, X-Linked
type: Class
subclass of: Nonsyndromic Hearing Impairment
hasExactSynonym: Nonsyndromic Deafness, X-Linked
hasExactSynonym: X-linked Deafness
hasExactSynonym: X-linked Nonsyndromic Deafness
definition source: DOID_0050566
database cross reference: DOID:0050566
existence in other ontologies: Sufficient
description: A nonsyndromic deafness characterized by an X-linked inheritance mode.
created by: Jade Hotchkiss
creation date: 2019-07-18T08:36:58.125429Z

Nonsyndromic Hearing Impairment, Mitochondrial
type: Class
subclass of: Nonsyndromic Hearing Impairment
created by: Jade Hotchkiss
creation date: 2019-07-18T08:36:58.126777Z

Aminoglycoside-Induced Hearing Impairment
type: Class
subclass of: Drug-Induced Hearing Impairment
subclass of: Restriction
  on property: induced by
  some values from: Aminoglycoside
hasExactSynonym: Aminoglycoside Induced Hearing Impairment
hasExactSynonym: Aminoglycoside Induced Hearing Loss
hasExactSynonym: Aminoglycoside-Induced Hearing Loss
definition source: HP_0011975
database cross reference: HP:0011975
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-07-19T07:59:36.111631Z

Aminoglycoside
type: Class
subclass of: Therapeutic Disease Cause
subclass of: Antibiotic
hasExactSynonym: Aminoglycoside Agent
hasExactSynonym: Aminoglycoside Antibiotic
hasExactSynonym: Aminoglycoside Drug
definition source: NCIT C2363
database cross reference: NCIT:C2363
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-07-19T08:02:57.830511Z

TPMT
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-07-19T08:09:44.47895Z

COMT
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-07-19T08:09:44.480177Z

Rubella Syndrome
type: Class
subclass of: Hearing Impairment of Environmental Aetiology
subclass of: Restriction
  on property: condition caused or contributed to by
  some values from: Rubella Infection
hasExactSynonym: Rubella Syndrome, Congenital
definition source: D012410
database cross reference: MESH:D012410
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-07-19T08:20:16.061688Z

Rubella Infection
type: Class
subclass of: Infection
hasExactSynonym: German Measles
hasExactSynonym: Measles
hasExactSynonym: Rubella
hasExactSynonym: Rubella Infection
hasExactSynonym: Three-Day Measles
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C85051
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-07-19T08:32:04.029976Z

Ehlers-Danlos Syndrome, Kyphoscoliotic and Deafness Type
type: Class
subclass of: Sensorineural Hearing Impairment
subclass of: Syndromic Hearing Impairment
hasExactSynonym: EDS with Progressive Kyphoscoliosis, Myopathy, and Deafness
hasExactSynonym: EDS with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
hasExactSynonym: EDS, Kphoscoliotic and Hearing Loss Type
hasExactSynonym: EDSKMH
hasExactSynonym: EDSKSCL2
hasExactSynonym: Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Deafness
hasExactSynonym: Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
hasExactSynonym: Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
hasExactSynonym: Ehlers-Danlos Syndrome, Kyphoscoliotic and Hearing Loss Type
hasExactSynonym: Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss
definition source: Orphanet_300179
database cross reference: ORPHA:300179
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in Orphanet, removing the name of the term from the start of the description.
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.
created by: Jade Hotchkiss
creation date: 2019-07-19T08:40:12.504522Z

FKBP14
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-07-19T09:32:09.586768Z

MYH14
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-07-19T09:32:09.587862Z

Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss Syndrome
type: Class
subclass of: Sensorineural Hearing Impairment
subclass of: Syndromic Hearing Impairment
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: MYH14
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Dominant
hasExactSynonym: PNMHH
hasExactSynonym: Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
definition source: Orphanet_397744
database cross reference: ORPHA:397744
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in Orphanet, removing the name of the term from the start of the description.
description: 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.
source: https://www.omim.org/entry/614369
created by: Jade Hotchkiss
creation date: 2019-07-19T09:35:39.359326Z
comment: Caused by heterozygous mutation in the MYH14 gene (608568) on chromosome 19q13. One such family has been reported.

X-Linked Inheritance
type: Class
subclass of: Sex-Linked Inheritance
hasExactSynonym: X-Linked
hasExactSynonym: X-Linked Form
definition source: HIO_0001417
database cross reference: HP:0001417
existence in other ontologies: Sufficient
description: A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.
created by: Jade Hotchkiss
creation date: 2019-07-24T09:34:22.65492Z

Y-Linked Inheritance
type: Class
subclass of: Sex-Linked Inheritance
hasExactSynonym: Y-Linked
hasExactSynonym: Y-Linked Form
definition source: HIO_0001450
database cross reference: HP:0001450
existence in other ontologies: Sufficient
description: A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.
created by: Jade Hotchkiss
creation date: 2019-07-24T09:34:22.658607Z

ABHD12
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-07-24T11:46:24.654775Z

Gene Product
type: Class
subclass of: HIO
hasExactSynonym: Genome Encoded Entity
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C26548
existence in other ontologies: Sufficient
curator note: 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)
description: A protein, RNA or a complex that contains proteins and/or RNA.
created by: Jade Hotchkiss
creation date: 2019-07-30T09:13:13.960072Z

Abnormal Ear Morphology
type: Class
subclass of: Abnormality of the Ear
hasExactSynonym: Abnormal Auditory/ Vestibular System Morphology
hasExactSynonym: Abnormal Ear Development/ Ear Malformation
hasExactSynonym: Auditory/ Vestibular System Abnormalities;
hasExactSynonym: Auditory/ Vestibular System Defects
hasExactSynonym: Ear Dysplasia
hasExactSynonym: Ears: Dysmorphology
definition source: MP_0002102
database cross reference: MP:0002102
existence in other ontologies: Sufficient
description: Any structural anomaly of any of the structures involved in the ear or vestibular system.
created by: Jade Hotchkiss
creation date: 2019-07-30T12:52:49.034438Z

Abnormal Middle Ear Morphology
type: Class
subclass of: Abnormal Ear Morphology
hasExactSynonym: Middle Ear Dysplasia
definition source: MP_0000049
database cross reference: MP:0000049
existence in other ontologies: Sufficient
description: Any structural anomaly of any components of the tympanic cavity or its ossicles.
created by: Jade Hotchkiss
creation date: 2019-07-30T13:04:50.765797Z

Abnormal Tympanic Membrane Morphology
type: Class
subclass of: Abnormal Middle Ear Morphology
hasExactSynonym: Abnormal Drum Membrane Morphology
hasExactSynonym: Abnormal Eardrum Morphology
hasExactSynonym: Abnormal Membrane Tympani Morphology
hasExactSynonym: Abnormal Myringa Morphology
hasExactSynonym: Abnormal Myrinx Morphology
definition source: MP_0006018
database cross reference: MP:0006018
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-07-30T13:29:29.068037Z

Tympanic Membrane Perforation
type: Class
subclass of: Abnormal Tympanic Membrane Morphology
subclass of: Auditory System Disease or Disorder
hasExactSynonym: Eardrum Perforation
hasExactSynonym: Perforated Eardrum
hasExactSynonym: Perforated Tympanic Membrane
hasExactSynonym: Ruptured Eardrum
hasExactSynonym: Tympanic Membrane Rupture
definition source: MP_0030414
database cross reference: MP:0030414
existence in other ontologies: Sufficient
description: Presence of a hole or tear in the tympanic membrane (eardrum).
created by: Jade Hotchkiss
creation date: 2019-07-30T13:33:48.264414Z

Abnormal Outer Ear Morphology
type: Class
subclass of: Abnormal Ear Morphology
hasExactSynonym: Abnormal Pinna Morphology
hasExactSynonym: Dysplastic Pinna
hasExactSynonym: Outer Ear Dysplasia
definition source: MP_0002177
database cross reference: MP:0002177
existence in other ontologies: Sufficient
description: Any structural anomaly of any components of the auricles or external acoustic meatus.
created by: Jade Hotchkiss
creation date: 2019-07-30T13:38:56.292997Z

Abnormal External Auditory Canal Morphology
type: Class
subclass of: Abnormal Outer Ear Morphology
hasExactSynonym: Abnormal External Meatus
definition source: MP_0006033
database cross reference: MP:0006033
existence in other ontologies: Sufficient
description: Any structural anomaly of the canal that connects the outer and middle ear.
created by: Jade Hotchkiss
creation date: 2019-07-30T13:44:44.850321Z

Excessive Cerumen in Ear Canal
type: Class
subclass of: Abnormal External Auditory Canal Morphology
subclass of: Auditory System Disease or Disorder
hasExactSynonym: Cerumen Impaction
hasExactSynonym: Ear Wax Accumulation
hasExactSynonym: Ear Wax Buildup
hasExactSynonym: Earwax Blockage
hasExactSynonym: Earwax Buildup
hasExactSynonym: Excessive Cerumen
hasExactSynonym: Excessive Ear Wax
hasExactSynonym: Excessive Earwax
definition source: MP_0030419
database cross reference: MP:0030419
existence in other ontologies: Sufficient
description: Excess buildup of cerumen, a yellowish waxy substance (earwax), in the external auditory canal.
created by: Jade Hotchkiss
creation date: 2019-07-30T13:54:53.749936Z

Temporary Hearing Impairment
type: Class
subclass of: Clinical Phenotype
hasExactSynonym: Temporary Deafness
hasExactSynonym: Temporary Hearing Loss
hasExactSynonym: Transitory Deafness
definition source: ear-blockages
existence in other ontologies: Few but definitions not freely available
creator: HIO (Jade Hotchkiss)
description: A decreased magnitude of the sensory perception of sound that is not permanent.
created by: Jade Hotchkiss
creation date: 2019-07-30T14:06:51.494209Z

Permanent Hearing Impairment
type: Class
subclass of: Clinical Phenotype
hasExactSynonym: Deafness Permanent
hasExactSynonym: Permanent Deafness
hasExactSynonym: Permanent Hearing Loss
existence in other ontologies: Few but definitions not specific enough
creator: HIO (Jade Hotchkiss)
description: A decreased magnitude of the sensory perception of sound that is permanent.
created by: Jade Hotchkiss
creation date: 2019-07-30T14:13:51.933686Z

Temporary
type: Class
subclass of: Disease Qualifier
definition source: details
database cross reference: NCIT:C53288
existence in other ontologies: Sufficient
description: Not permanent; not lasting; lacking continuity or regularity.
created by: Jade Hotchkiss
creation date: 2019-08-14T11:47:47.823533Z

Ear Obstruction
type: Class
subclass of: Environmental Disease Cause
hasExactSynonym: Ear Blockage
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Blockage of a part of the ear.
created by: Jade Hotchkiss
creation date: 2019-07-30T14:30:48.074846Z

External Ear Canal Obstruction
type: Class
subclass of: Ear Obstruction
hasExactSynonym: External Ear Canal Blockage
definition source: what causes hearing loss
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Blockage in the external ear canal due to cerumen (wax) build-up, hematoma (blood collection), or a foreign body in the ear canal.
created by: Jade Hotchkiss
creation date: 2019-07-30T14:34:59.264517Z

Careful Manual Removal of Obstruction
type: Class
subclass of: Curative Therapeutics
created by: Jade Hotchkiss
creation date: 2019-07-30T14:38:00.785265Z

Irrigation of Ear
type: Class
subclass of: Curative Therapeutics
hasExactSynonym: Ear Irrigation
hasExactSynonym: Irrigation of External Auditory Canal
hasExactSynonym: Syringing of Ear
definition source: ear-blockages
existence in other ontologies: Few but definitions not freely available
creator: HIO (Jade Hotchkiss)
description: The use of water to flush out ear wax. The water may be combined with an agent to soften the ear wax.
created by: Jade Hotchkiss
creation date: 2019-07-30T14:45:18.296496Z

Childhood Onset
type: Class
subclass of: Pediatric Onset
hasExactSynonym: Symptoms Begin in Childhood
definition source: HP_0011463
database cross reference: HP:0011463
existence in other ontologies: Sufficient
description: 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).
created by: Jade Hotchkiss
creation date: 2019-08-14T10:25:49.538379Z

Foreign Body in Ear Canal
type: Class
subclass of: External Ear Canal Obstruction
existence in other ontologies: Few but definitions not freely available
creator: HIO (Jade Hotchkiss)
description: When an object from the environment has inadvertently entered and lodged in the ear canal.
source: RID5425
created by: Jade Hotchkiss
creation date: 2019-07-31T12:15:16.799027Z

Injury of Middle Ear
type: Class
subclass of: Ear Injury
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Damage to the middle ear.
created by: Jade Hotchkiss
creation date: 2019-07-31T12:41:09.383982Z

Ossicular Dislocation
type: Class
subclass of: Injury of Middle Ear
hasExactSynonym: Abnormal Separation of Middle Ear B-ones
hasExactSynonym: Dislocation of Ear Ossicle
hasExactSynonym: Ossicular Chain Discontinuity
hasExactSynonym: Ossicular Chain Dislocation
definition source: MONDO_0001199
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in MONDO
description: A separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss).
created by: Jade Hotchkiss
creation date: 2019-07-31T12:41:57.573287Z

Otitis Media
type: Class
subclass of: Infection
hasExactSynonym: Middle Ear Infection
definition source: HP_0000388
database cross reference: HP:0000388
existence in other ontologies: Sufficient
curator note: Possibly include sub-classes from HPO
description: Inflammation or infection of the middle ear.
created by: Jade Hotchkiss
creation date: 2019-07-31T12:48:04.045012Z

Otitis Externa
type: Class
subclass of: Infection
definition source: HP_0410017
database cross reference: HP:0410017
existence in other ontologies: Sufficient
description: Inflammation or infection of the external auditory canal (EAC), the auricle, or both.
created by: Jade Hotchkiss
creation date: 2019-07-31T13:23:41.689596Z

Tympanic Membrane Retraction
type: Class
subclass of: Abnormal Tympanic Membrane Morphology
subclass of: Auditory System Disease or Disorder
hasExactSynonym: Eardrum Retraction
hasExactSynonym: Retracted Eardrum
hasExactSynonym: Retracted Tympanic Membrane
definition source: MP_003041
database cross reference: MP:0030413
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-07-31T13:26:13.507942Z

Barotrauma
type: Class
subclass of: Injury
hasExactSynonym: Pressure Trauma
definition source: D001469
database cross reference: MESH:D001469
existence in other ontologies: Sufficient
description: Injury following pressure changes; includes injury to the eustachian tube, ear drum, lung and stomach.
created by: Jade Hotchkiss
creation date: 2019-07-31T13:41:03.049479Z

Blast Injury
type: Class
subclass of: Injury
definition source: D001753
database cross reference: MESH:D001753
existence in other ontologies: Sufficient
description: 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)
created by: Jade Hotchkiss
creation date: 2019-07-31T13:45:20.768154Z

Head Injury
type: Class
subclass of: Injury
hasExactSynonym: Injury of Head
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C34660
existence in other ontologies: Sufficient
description: A traumatic injury to the head.
created by: Jade Hotchkiss
creation date: 2019-07-31T13:53:27.775007Z

Temporal Bone Fracture
type: Class
subclass of: Head Injury
hasExactSynonym: Fracture of Temporal Bone
existence in other ontologies: Few but definitions not freely available
creator: HIO (Jade Hotchkiss)
description: Traumatic injury to the temporal bone in which the continuity of the bone is broken.
source: CCTO_000679
created by: Jade Hotchkiss
creation date: 2019-08-01T07:02:17.649973Z

Gentamicin
type: Class
subclass of: Aminoglycoside
hasExactSynonym: Garamicin
hasExactSynonym: Garamycin
hasExactSynonym: Genoptic
hasExactSynonym: Genoptic S.O.P.
hasExactSynonym: Gentamycin
hasExactSynonym: Gentamycin Complex
hasExactSynonym: U-Gencin
definition source: NCIT C519
database cross reference: NCIT:C519
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-01T07:09:06.598586Z

Antibiotic
type: Class
subclass of: Drug
hasExactSynonym: Antibiotic Agents
hasExactSynonym: Antibiotic Drug
hasExactSynonym: Antibiotic Drugs
hasExactSynonym: Antibiotics
hasExactSynonym: Antimicrobial
hasExactSynonym: Antimicrobial Agent
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C258
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-01T07:21:03.213903Z

Vancomycin
type: Class
subclass of: Therapeutic Disease Cause
subclass of: Glycopeptide Antibiotic
definition source: details
database cross reference: NCIT:C925
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-01T07:23:19.718945Z

Glycopeptide Antibiotic
type: Class
subclass of: Antibiotic
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C61101
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-01T07:39:10.094007Z

Erythromycin
type: Class
subclass of: Therapeutic Disease Cause
subclass of: Antibiotic
hasExactSynonym: Abomacetin
hasExactSynonym: Emgel
hasExactSynonym: Eritromicina
hasExactSynonym: Erymax
hasExactSynonym: Erythrocin
hasExactSynonym: Erythromycin A
hasExactSynonym: Erythromycine
hasExactSynonym: Erythromycinum
hasExactSynonym: N-methylerythromycin A
definition source: ARO_0000006
database cross reference: ARO:0000006
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-01T07:45:46.53341Z

Tetracycline Antibiotic
type: Class
subclass of: Antibiotic
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C1595
existence in other ontologies: Sufficient
description: 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)
created by: Jade Hotchkiss
creation date: 2019-08-01T07:48:44.538489Z

Neomycin
type: Class
subclass of: Aminoglycoside
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C683
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-01T08:27:40.961313Z

Neomycin-Induced Hearing Impairment
type: Class
subclass of: Aminoglycoside-Induced Hearing Impairment
subclass of: Restriction
  on property: induced by
  some values from: Neomycin
hasExactSynonym: Neomycin-Induced Hearing Loss
existence in other ontologies: None
curator note: Request inclusion into HPO below "Aminoglycoside-Induced Hearing Loss"
creator: HIO (Jade Hotchkiss)
description: Partial or complete loss of hearing following ingestion of neomycin.
source: HIO 276068740 Minocycline Protection of Neomycin Induced Hearing Loss in Gerbils
created by: Jade Hotchkiss
creation date: 2019-08-01T08:30:41.100357Z

Minocycline
type: Class
subclass of: Tetracycline Antibiotic
hasExactSynonym: Minocin
existence in other ontologies: Few but definitions not specific enough
creator: HIO (Jade Hotchkiss)
description: 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.
source: minocycline.html
source: HIO 276068740 Minocycline Protection of Neomycin Induced Hearing Loss in Gerbils
created by: Jade Hotchkiss
creation date: 2019-08-01T08:35:33.730052Z
comment: Minocycline reduces but does not completely eliminate neomycin induced hearing loss.

Temporal Bone Fracture with Otic Capsule Involvement
type: Class
subclass of: Temporal Bone Fracture
hasExactSynonym: Otic Capsule-Disrupting Fracture
hasExactSynonym: Otic Capsule-Involvement Fracture
hasExactSynonym: Otic Capsule-Violating Fracture
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Traumatic injury to the temporal bone in which the continuity of the bone is broken and violation of the otic capsule is involved.
source: HIO_5023437
created by: Jade Hotchkiss
creation date: 2019-08-01T08:50:08.938307Z
comment: 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 without Otic Capsule Involvement
type: Class
subclass of: Temporal Bone Fracture
hasExactSynonym: Otic Capsule-Sparing Fracture
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Traumatic injury to the temporal bone in which the continuity of the bone is broken and violation of the otic capsule is not involved.
source: HIO_5023437
created by: Jade Hotchkiss
creation date: 2019-08-01T09:00:41.814315Z

Diuretic
type: Class
subclass of: Drug
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C448
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-01T09:05:28.281113Z

Furosemide
type: Class
subclass of: Diuretic
hasExactSynonym: FRS
hasExactSynonym: LB 502
hasExactSynonym: Lasix
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C515
existence in other ontologies: Sufficient
description: 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.
source: what causes hearing loss
created by: Jade Hotchkiss
creation date: 2019-08-01T09:08:10.193462Z
comment: Can cause Sensorineural Hearing Loss

Ethacrynic Acid
type: Class
subclass of: Diuretic
hasExactSynonym: EA
hasExactSynonym: Edecrin
hasExactSynonym: [2,3-Dichloro-4-(2-methylene-1-oxobutyl)phenoxy]acetic Acid
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C485
existence in other ontologies: Sufficient
description: 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.
source: what causes hearing loss
created by: Jade Hotchkiss
creation date: 2019-08-01T09:13:35.819811Z
comment: Can cause Sensorineural Hearing Loss

Acoustic Neuroma
type: Class
subclass of: Nervous System Disease
hasExactSynonym: Acoustic Neurilemmoma
definition source: D009464
database cross reference: MESH:D009464
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-01T09:25:38.285706Z

Nervous System Disease
type: Class
subclass of: Disease or Disorder Associated with Hearing Impairment
definition source: EFO_0000618
database cross reference: EFO:0000618
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-09-02T12:03:42.215364Z

Sickle Cell Disease
type: Class
subclass of: Hematologic and Lymphocytic Disorder
definition source: SCDO_1000106
database cross reference: SCDO:1000106
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-02T09:42:04.30967Z

Diabetes Mellitus
type: Class
subclass of: Metabolic Disease
definition source: HP_0000819
database cross reference: HP:0000819
existence in other ontologies: Sufficient
description: A group of abnormalities characterized by hyperglycemia and glucose intolerance.
created by: Jade Hotchkiss
creation date: 2019-08-02T09:42:04.310992Z

Leukemia
type: Class
subclass of: Hematologic and Lymphocytic Disorder
definition source: DOID 1240
database cross reference: DOID:1240
existence in other ontologies: Sufficient
description: A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.
created by: Jade Hotchkiss
creation date: 2019-08-02T09:42:04.312244Z

Polycythemia
type: Class
subclass of: Hematologic and Lymphocytic Disorder
hasExactSynonym: Erythrocytosis
hasExactSynonym: Increased Red Blood Cells
hasExactSynonym: Polycythaemia
hasExactSynonym: Polyglobulia
definition source: HP_0001901
database cross reference: HP:0001901
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-02T09:42:04.313482Z

Ermine Phenotype
type: Class
subclass of: Sensorineural Hearing Impairment
subclass of: Syndromic Hearing Impairment
hasExactSynonym: BADS
hasExactSynonym: Black Lock-Albinism-Deafness Syndrome (BADS)
hasExactSynonym: O'Doherty Syndrome
hasExactSynonym: Pigmentary Disorder with Hearing Loss
definition source: Orphanet 999
database cross reference: ORPHA:999
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-02T10:26:01.339433Z

Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
type: Class
subclass of: Sensorineural Hearing Impairment
subclass of: Syndromic Hearing Impairment
hasExactSynonym: Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
hasExactSynonym: MPMCHD
hasExactSynonym: Mitochondrial Complex Deficiency, Combined
hasExactSynonym: Myopathy with Cataract and Combined Respiratory-Chain Deficiency
hasExactSynonym: Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay
definition source: Orphanet_330054
database cross reference: ORPHA:330054
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in ORDO (remove name of syndrome from start of description)
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.
created by: Jade Hotchkiss
creation date: 2019-08-02T10:42:38.691316Z

DLX5
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-08-02T10:51:36.251567Z

Split Hand-Foot Malformation 1 with Sensorineural Hearing Loss
type: Class
subclass of: Sensorineural Hearing Impairment
subclass of: Syndromic Hearing Impairment
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: DLX5
hasExactSynonym: SHFM1D
hasExactSynonym: Split Hand, Split Foot Malformation with Sensorineural Hearing Loss Syndrome
hasExactSynonym: Split Hand-Foot Malformation 1 with Sensorineural Hearing Loss
hasExactSynonym: Split-Hand/Foot Malformation-1 with Sensorineural Hearing Loss (SHFM1D)
definition source: HIO_723611008
database cross reference: SNOMEDCT:723611008
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-02T10:57:48.029889Z

IARS2
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-08-02T11:03:45.591925Z

Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia Syndrome
type: Class
subclass of: Sensorineural Hearing Impairment
subclass of: Syndromic Hearing Impairment
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: IARS2
hasExactSynonym: CAGSSS
hasExactSynonym: Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
definition source: https://www.omim.org/entry/616007
existence in other ontologies: Few but definitions not freely available
creator: HIO (Jade Hotchkiss)
description: 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).
created by: Jade Hotchkiss
creation date: 2019-08-02T11:17:50.40585Z

Fluvastatin
type: Class
subclass of: Drug
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C61768
existence in other ontologies: Sufficient
description: 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.
source: HIO_29445111
created by: Jade Hotchkiss
creation date: 2019-08-06T08:52:56.635927Z
comment: Been shown to protects cochleae from damage by high-level noise.

ADCY1
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-08-06T12:40:15.918665Z

Genetic Locus
type: Class
subclass of: Genetic Structure
hasExactSynonym: Genetic Loci
hasExactSynonym: Loci, Genetic
hasExactSynonym: Locus, Genetic
definition source: D056426
database cross reference: MESH:D056426
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-06T12:46:59.460543Z

Nonsyndromic Dominant Auditory Neuropathy
type: Class
subclass of: Auditory Neuropathy
subclass of: Nonsyndromic Hearing Impairment, Autosomal Dominant
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: DIAPH3
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Dominant
subclass of: Restriction
  on property: condition has causal or contributing genetic variation
  some values from: DIAPH3, -172G-A
hasExactSynonym: AUNA1
hasExactSynonym: Autosomal Dominant Auditory Neuropathy 1
definition source: DOID_0060690
database cross reference: DOID:0060690
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-06T14:08:35.654315Z

DIAPH3
type: Class
subclass of: Gene
subclass of: Restriction
  on property: has gene product
  some values from: Protein Diaphanous Homolog 3
subclass of: Restriction
  on property: has genetic variation
  some values from: DIAPH3, -172G-A
hasExactSynonym: AUNA1
hasExactSynonym: DIA2
hasExactSynonym: DIAP3
hasExactSynonym: Diaphanous-Related Formin 3 Protein-Coding Gene
hasExactSynonym: NSDAN
hasExactSynonym: diap3
definition source: http://identifiers.org/ncbigene/81624
database cross reference: NCBIGene:81624
existence in other ontologies: Sufficient
description: The protein-coding gene DIAPH3 (diaphanous-related formin 3) located on the chromosome 13 mapped at 13q21.2.
created by: Jade Hotchkiss
creation date: 2019-08-06T14:11:47.698765Z

COL4A5
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-08-06T15:01:22.10918Z

COL4A3
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-08-06T15:06:29.86976Z

COL4A4
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-08-06T15:06:29.870832Z

ILDR1
type: Class
subclass of: Gene
created by: Jade Hotchkiss
creation date: 2019-08-06T18:15:55.950721Z

Disease Clinical Qualifier
type: Class
subclass of: Disease Qualifier
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in NCIT (no current description)
creator: HIO (Jade Hotchkiss)
description: An clinical adjectival term used to specify and describe a disease appearance or processes.
created by: Jade Hotchkiss
creation date: 2019-08-14T11:19:38.669685Z

Progressive
type: Class
subclass of: Disease Clinical Qualifier
hasExactSynonym: Worsens With Time
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C25254
existence in other ontologies: Sufficient
description: Advancing in extent or severity.
created by: Jade Hotchkiss
creation date: 2019-08-14T11:24:50.273217Z

Postlingual Nonsyndromic Genetic Hearing Impairment
type: Class
subclass of: Nonsyndromic Hearing Impairment
subclass of: Postlingual Hearing Impairment
hasExactSynonym: Isolated Postlingual Genetic Deafness
hasExactSynonym: Postlingual Non-Syndromic Genetic Deafness
hasExactSynonym: Postlingual Non-Syndromic Genetic Hearing Impairment
hasExactSynonym: Postlingual Nonsyndromic Genetic Deafness
definition source: Orphanet_216452
database cross reference: Orphanet:216452
existence in other ontologies: Sufficient
curator note: Perhaps add sub-classes of "Postlingual non-syndromic genetic deafness" from the EFO.
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-06T18:52:11.316103Z

Prelingual Nonsyndromic Genetic Hearing Impairment
type: Class
subclass of: Nonsyndromic Hearing Impairment
subclass of: Prelingual Hearing Impairment
hasExactSynonym: Isolated Prelingual Genetic Deafness
hasExactSynonym: Prelingual Non-Syndromic Genetic Deafness
hasExactSynonym: Prelingual Non-Syndromic Genetic Hearing Impairment
hasExactSynonym: Prelingual Nonsyndromic Genetic Deafness
definition source: Orphanet_216445
database cross reference: Orphanet:216445
existence in other ontologies: Sufficient
curator note: Perhaps add sub-classes of "Prelingual non-syndromic genetic deafness" from the EFO.
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-06T18:55:49.0247Z

Inherited
type: Class
subclass of: Disease Qualifier
hasExactSynonym: Constitutitional Genetic
hasExactSynonym: Familial
hasExactSynonym: Genetic
hasExactSynonym: Hereditary
definition source: MONDO_0021152
database cross reference: MONDO:0021152
existence in other ontologies: Sufficient
description: A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents.
created by: Jade Hotchkiss
creation date: 2019-08-14T11:36:23.898894Z

Rare
type: Class
subclass of: Disease Qualifier
definition source: MONDO_0021136
database cross reference: MONDO:0021136
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-14T11:38:53.675159Z

Permanent
type: Class
subclass of: Disease Qualifier
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C160628
existence in other ontologies: Sufficient
description: Continuing or enduring over time, without fundamental or marked change.
created by: Jade Hotchkiss
creation date: 2019-08-14T11:45:54.114801Z

Personal History of Mumps
type: Class
subclass of: Personal Medical History
existence in other ontologies: None
curator note: Request inclusion into NCIT as a sub-class of "Personal Medical History".
creator: HIO (Jade Hotchkiss)
description: A record of an individual's history of mumps.
created by: Jade Hotchkiss
creation date: 2019-08-16T12:27:00.585053Z

Personal History of Chronic Ear Infections
type: Class
subclass of: Personal Medical History
existence in other ontologies: None
curator note: Request inclusion into NCIT as a sub-class of "Personal Medical History".
creator: HIO (Jade Hotchkiss)
description: A record of an individual's history of chronic ear infections.
created by: Jade Hotchkiss
creation date: 2019-08-16T12:28:18.545472Z

Childhood Onset Sensorineural Hearing Impairment
type: Class
subclass of: Sensorineural Hearing Impairment
subclass of: Childhood Onset Hearing Impairment
hasExactSynonym: Sensorineural Hearing Impairment with Childhood Onset
definition source: HP_0011474
database cross reference: HP:0011474
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in HPO
description: Sensorineural hearing impairment that begins manifesting at the age of between 1 and 5 years (not including the fifth birthday).
created by: Jade Hotchkiss
creation date: 2019-08-06T19:56:11.839411Z

GRXCR2
type: Class
subclass of: Gene
subclass of: Restriction
  on property: has gene product
  some values from: Glutaredoxin Domain-Containing Cysteine-Rich Protein 2
subclass of: Restriction
  on property: has genetic variation
  some values from: GRXCR2, 1-BP DUP, 714T
created by: Jade Hotchkiss
creation date: 2019-08-06T19:59:07.675833Z

Autosomal Recessive Nonsyndromic Hearing Impairment 101
type: Class
subclass of: Nonsyndromic Hearing Impairment, Autosomal Recessive
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: GRXCR2
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Recessive
subclass of: Restriction
  on property: condition has causal or contributing genetic variation
  some values from: GRXCR2, 1-BP DUP, 714T
hasExactSynonym: Autosomal Recessive Deafness 101
hasExactSynonym: Autosomal Recessive Nonsyndromic Deafness 101
hasExactSynonym: Autosomal Recessive Nonsyndromic Deafness Caused by Mutation in GRXCR2
hasExactSynonym: Autosomal Recessive Nonsyndromic Deafness Type 101
hasExactSynonym: DFNB101
hasExactSynonym: Deafness, Autosomal Recessive 101
hasExactSynonym: Deafness, Autosomal Recessive Type 101
hasExactSynonym: Deafness, Autosomal Recessive, 101
hasExactSynonym: GRXCR2 Autosomal Recessive Nonsyndromic Deafness
definition source: MONDO_0014363
database cross reference: MONDO:0014363
existence in other ontologies: Sufficient
description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene.
source: DI-03029
created by: Jade Hotchkiss
creation date: 2019-08-06T20:02:04.044833Z
comment: 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.

Current Age
type: Class
subclass of: Age
hasExactSynonym: Current Chronological Age
definition source: CurrentChronologicalAge
database cross reference: SDO:CurrentChronologicalAge
existence in other ontologies: Sufficient
description: Current age of a patient calculated using the current date and the patient's date of birth.
created by: Jade Hotchkiss
creation date: 2019-08-07T11:46:16.135032Z

Annual Family Income
type: Class
subclass of: Personal Attribute
subclass of: Socioeconomic Factors
definition source: SCDO_0000056
database cross reference: SCDO:0000056
existence in other ontologies: Sufficient
curator note: 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
has protocol: PhenX protocol: Annual Family Income #11101
description: The respondent's total family income from the last calendar year.
created by: Jade Hotchkiss
creation date: 2019-08-07T11:47:21.609651Z

Birthplace
type: Class
subclass of: Personal Attribute
hasExactSynonym: Place of Birth
definition source: SCDO_0000123
database cross reference: SCDO:0000123
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: The country in which the respondent was born.
created by: Jade Hotchkiss
creation date: 2019-08-07T11:52:21.093415Z

Clinic Subject ID
type: Class
subclass of: Personal Attribute
hasExactSynonym: Clinical Study Subject Unique Identifier
hasExactSynonym: Clinical Trial Subject Unique Identifier
hasExactSynonym: Research Subject ID
hasExactSynonym: Subject Identification Code
hasExactSynonym: Subject Unique Identifier
hasExactSynonym: Subject's Unique Identifier
hasExactSynonym: USUBJID
definition source: NCIT C70731
database cross reference: NCIT:C70731
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-07T12:02:46.720255Z

Current Educational Attainment
type: Class
subclass of: Personal Attribute
subclass of: Socioeconomic Factors
hasExactSynonym: Educational Attainment
definition source: SCDO_0000305
database cross reference: SCDO:0000305
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into MESH. Update at a later stage if necessary.
description: The respondent's highest level of education at the current time.
created by: Jade Hotchkiss
creation date: 2019-08-07T12:05:36.588548Z

Current Employment Status
type: Class
subclass of: Personal Attribute
subclass of: Socioeconomic Factors
hasExactSynonym: Employment Status
definition source: https://www.phenxtoolkit.org/protocols/view/11301
database cross reference: phenX:11301
existence in other ontologies: Sufficient
has protocol: PhenX protocol: Current Employment Status #11301
description: The respondent's current employment status.
created by: Jade Hotchkiss
creation date: 2019-08-07T12:09:53.948711Z

Current Marital Status
type: Class
subclass of: Personal Attribute
subclass of: Socioeconomic Factors
hasExactSynonym: Marital Status
definition source: https://www.phenxtoolkit.org/protocols/view/10902
database cross reference: phenX:10902
existence in other ontologies: Sufficient
curator note: Can add sub-classes of "Marital Status" from MESH.
has protocol: PhenX protocol: Current Marital Status #10902
description: The respondent's current marital status.
created by: Jade Hotchkiss
creation date: 2019-08-07T12:11:26.334676Z

Gender
type: Class
subclass of: Personal Attribute
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C17357
existence in other ontologies: Sufficient
description: The assemblage of properties that distinguish people on the basis of the societal roles expected for the two sexes.
created by: Jade Hotchkiss
creation date: 2019-08-07T12:14:25.770106Z

Gender Identity
type: Class
subclass of: Personal Attribute
definition source: D005783
database cross reference: MESH:D005783
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-07T12:15:32.013363Z

Health Insurance Coverage
type: Class
subclass of: Personal Attribute
definition source: SCDO_0000490
database cross reference: SCDO:0000490
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into MESH. Update at a later stage if necessary.
has protocol: PhenX protocol: Health Insurance Coverage #11502
description: Whether the respondent is covered by health insurance or some other form of health care coverage at the time of the interview.
created by: Jade Hotchkiss
creation date: 2019-08-07T12:16:33.122414Z
comment: Also applicable to a population not just to an individual.

Medication Inventory
type: Class
subclass of: Personal Attribute
definition source: SCDO_0000740
database cross reference: SCDO:0000740
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
has protocol: PhenX protocol: Medication Inventory #140301
description: 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.
source: https://www.phenxtoolkit.org/protocols/view/140301
created by: Jade Hotchkiss
creation date: 2019-08-07T12:22:54.012584Z

National Origin
type: Class
subclass of: Personal Attribute
subclass of: Socioeconomic Factors
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C28407
existence in other ontologies: Sufficient
description: System of classification based on nation from which a person originates, regardless of the nation in which he/she currently resides.
created by: Jade Hotchkiss
creation date: 2019-08-07T12:25:26.964175Z

Occupation
type: Class
subclass of: Personal Attribute
subclass of: Socioeconomic Factors
hasExactSynonym: Career
hasExactSynonym: Employment
hasExactSynonym: Job
hasExactSynonym: Vocation
definition source: ExO_0000034
database cross reference: ExO:0000034
existence in other ontologies: Sufficient
description: An individual attribute that is the usual or principal work or business of an individual.
created by: Jade Hotchkiss
creation date: 2019-08-07T12:26:31.88615Z

Personal Medical History
type: Class
subclass of: Personal Attribute
hasExactSynonym: General Medical History
hasExactSynonym: Medical History
hasExactSynonym: PMH
hasExactSynonym: Past Medical History
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C18772
existence in other ontologies: Sufficient
curator note: Sub-classes in NCIT to be added here?
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-07T12:32:05.885119Z

Race
type: Class
subclass of: Personal Attribute
hasExactSynonym: Racial Group
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C17049
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-07T12:33:41.769384Z

Research Participant Compensation
type: Class
subclass of: Personal Attribute
hasExactSynonym: Study Participant Compensation
definition source: SCDO_0002243
database cross reference: SCDO:0002243
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-07T12:35:14.330866Z
comment: 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.

Corticosteroid
type: Class
subclass of: Drug
hasExactSynonym: Corticoides
hasExactSynonym: Corticosteroides
hasExactSynonym: Corticosteroids
definition source: CHEBI_50858
database cross reference: CHEBI:50858
existence in other ontologies: Sufficient
description: A natural or synthetic analogue of the hormones secreted by the adrenal gland.
created by: Jade Hotchkiss
creation date: 2019-08-07T18:41:00.661169Z

PEX1
type: Class
subclass of: Gene
subclass of: Restriction
  on property: has gene product
  some values from: Peroxisomal Biogenesis Factor 1
hasExactSynonym: PEX1 Gene
database cross reference: NCBIGene:5189
existence in other ontologies: Sufficient
description: The protein-coding gene PEX1 (peroxisomal biogenesis factor 1) located on the chromosome 7 mapped at 7q21.2.
created by: Jade Hotchkiss
creation date: 2019-08-08T09:29:27.114199Z

PEX6
type: Class
subclass of: Gene
subclass of: Restriction
  on property: has gene product
  some values from: Peroxisomal Biogenesis Factor 6
hasExactSynonym: PEX6 Gene
hasExactSynonym: PXAAA1
definition source: http://identifiers.org/ncbigene/5190
database cross reference: NCBIGene:5190
existence in other ontologies: Sufficient
description: The protein-coding gene PEX6 (peroxisomal biogenesis factor 6) located on the chromosome 6 mapped at 6p21.1.
created by: Jade Hotchkiss
creation date: 2019-08-08T09:29:27.11521Z

Peroxisomal Biogenesis Factor 6
type: Class
subclass of: Gene Product
hasExactSynonym: PAF-2
hasExactSynonym: Peroxin-6
hasExactSynonym: Peroxisomal-type ATPase 1
hasExactSynonym: Peroxisome Assembly Factor 2
existence in other ontologies: Few but definitions not freely available
creator: HIO (Jade Hotchkiss)
description: A protein that is a translation product of the human PEX6 gene or a 1:1 ortholog thereof.
source: Q13608
created by: Jade Hotchkiss
creation date: 2019-08-08T11:05:28.924491Z

Peroxisomal Biogenesis Factor 1
type: Class
subclass of: Gene Product
hasExactSynonym: Peroxin-1
hasExactSynonym: Peroxisomal Biogenesis Factor 1
hasExactSynonym: Peroxisome Assembly Factor 1
definition source: PR_000012553
database cross reference: PR:000012553
existence in other ontologies: Sufficient
description: A protein that is a translation product of the human PEX1 gene or a 1:1 ortholog thereof.
created by: Jade Hotchkiss
creation date: 2019-08-08T11:05:28.925534Z

Glutaredoxin Domain-Containing Cysteine-Rich Protein 2
type: Class
subclass of: Gene Product
hasExactSynonym: GRXCR1-Like Protein
hasExactSynonym: Glutaredoxin Domain-Containing Cysteine-Rich Protein 1-Like Protein
definition source: PR_000031772
database cross reference: PR:000031772
existence in other ontologies: Sufficient
description: A protein that is a translation product of the human GRXCR2 gene or a 1:1 ortholog thereof.
created by: Jade Hotchkiss
creation date: 2019-08-10T19:18:06.654765Z

GRXCR2, 1-BP DUP, 714T
type: Class
subclass of: Loss of Function Mutation
subclass of: Nonsense Mutation
definition source: https://www.omim.org/entry/615762#0001
existence in other ontologies: Negligable (nothing useful/outdated ontology)
creator: HIO (Jade Hotchkiss)
description: 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.
source: https://www.omim.org/entry/615837
created by: Jade Hotchkiss
creation date: 2019-08-11T17:17:50.619491Z

Sodium/Potassium-Transporting ATPase Subunit Alpha-3
type: Class
subclass of: Gene Product
hasExactSynonym: EC:7.2.2.13
hasExactSynonym: Na(+)/K(+) ATPase Alpha(III) Subunit
hasExactSynonym: Na(+)/K(+) ATPase Alpha-3 Subunit
hasExactSynonym: Sodium Pump Subunit Alpha-3
definition source: PR_000004437
definition source: P13637
database cross reference: PR:000004437
existence in other ontologies: Suggest update to description in the Protein Ontology
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-11T17:56:52.980218Z

Protein Diaphanous Homolog 3
type: Class
subclass of: Gene Product
hasExactSynonym: DRF3
hasExactSynonym: Diaphanous-Related Formin-3
hasExactSynonym: MDia2
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C131339
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-11T18:45:58.536158Z

Loss of Function Mutation
type: Class
subclass of: Mutation
hasExactSynonym: Leaky Mutation
definition source: HIO_000073658
database cross reference: MESH:D000073658
existence in other ontologies: Sufficient
description: A mutation that causes a decrease in or elimination of a gene product's activity.
created by: Jade Hotchkiss
creation date: 2019-08-11T19:01:26.10758Z

Gain of Function Mutation
type: Class
subclass of: Mutation
hasExactSynonym: Activation Mutation
definition source: HIO_000073659
database cross reference: MESH:D000073659
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-11T19:01:26.10878Z

DIAPH3, -172G-A
type: Class
subclass of: Gain of Function Mutation
hasExactSynonym: -172G-A
definition source: https://www.omim.org/entry/614567#0001
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in OMIM ontology on BioPortal
creator: HIO (Jade Hotchkiss)
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-11T19:06:36.595141Z

Cholesteatoma
type: Class
subclass of: Abnormal Middle Ear Morphology
subclass of: Auditory System Disease or Disorder
definition source: HP_0009797
database cross reference: HP:0009797
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-11T19:56:09.941474Z

Jervell and Lange-Nielsen Syndrome 1
type: Class
subclass of: Jervell and Lange-Nielsen Syndrome
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: KCNQ1
hasExactSynonym: Deafness, Congenital, and Functional Heart Disease
hasExactSynonym: JLNS1
hasExactSynonym: Jervell and Lange-Nielsen Syndrome Caused by Mutation in KCNQ1
hasExactSynonym: KCNQ1 Jervell and Lange-Nielsen Syndrome
hasExactSynonym: Prolonged QT Interval in EKG and Sudden Death
hasExactSynonym: Surdo-Cardiac Syndrome
definition source: MONDO_0024540
database cross reference: MONDO:0024540
existence in other ontologies: Sufficient
description: Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.
created by: Jade Hotchkiss
creation date: 2019-08-12T14:08:21.148855Z

Jervell and Lange-Nielsen Syndrome 2
type: Class
subclass of: Jervell and Lange-Nielsen Syndrome
subclass of: Restriction
  on property: gene carrying contributing genetic variation
  some values from: KCNE1
hasExactSynonym: JLNS2
hasExactSynonym: Jervell and Lange-Nielsen Syndrome Caused by Mutation in KCNE1
hasExactSynonym: Jervell and Lange-Nielsen Syndrome Type 2
hasExactSynonym: KCNE1 Jervell and Lange-Nielsen Syndrome
definition source: MONDO_0012871
database cross reference: MONDO:0012871
existence in other ontologies: Sufficient
description: Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.
created by: Jade Hotchkiss
creation date: 2019-08-12T14:08:21.149942Z

Potassium Voltage-Gated Channel Subfamily KQT Member 1
type: Class
subclass of: Gene Product
hasExactSynonym: IKs Producing Slow Voltage-Gated Potassium Channel Subunit Alpha KvLQT1
hasExactSynonym: KQT-Like 1
hasExactSynonym: KvLQT1
hasExactSynonym: Slow Delayed Rectifier Channel Subunit
hasExactSynonym: Voltage-Gated Potassium Channel Subunit Kv7.1
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C75624
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-12T18:44:41.476606Z

Moderately Severe Hearing Impairment
type: Class
subclass of: Clinical Phenotype
hasExactSynonym: Moderately Severe HI
hasExactSynonym: Moderately Severe HL
hasExactSynonym: Moderately Severe Hearing Loss
definition source: Degree-of-Hearing-Loss
existence in other ontologies: None
curator note: Suggest inclusion into HPO
creator: HIO (Jade Hotchkiss)
description: When hearing loss ranges between 56 to 70 dB.
created by: Jade Hotchkiss
creation date: 2019-08-13T12:33:26.86595Z

Slight Hearing Impairment
type: Class
subclass of: Clinical Phenotype
hasExactSynonym: Slight HI
hasExactSynonym: Slight HL
hasExactSynonym: Slight Hearing Loss
definition source: Degree-of-Hearing-Loss
existence in other ontologies: None
curator note: Suggest inclusion into HPO
creator: HIO (Jade Hotchkiss)
description: When hearing loss ranges between 16 to 25 dB.
created by: Jade Hotchkiss
creation date: 2019-08-13T12:36:17.824393Z

Personal History of Cancer
type: Class
subclass of: Personal Medical History
existence in other ontologies: None
curator note: Request inclusion into NCIT as a sub-class of "Personal Medical History".
creator: HIO (Jade Hotchkiss)
description: A record of an individual's history of cancer.
created by: Jade Hotchkiss
creation date: 2019-08-16T12:33:36.450747Z

Maternal Medical History
type: Class
subclass of: Personal Attribute
existence in other ontologies: None
curator note: Request inclusion into NCIT as a sub-class of "Personal Attribute".
creator: HIO (Jade Hotchkiss)
description: A record of a patient's biological mother's background regarding health and the occurrence of disease events of the mother.
created by: Jade Hotchkiss
creation date: 2019-08-16T12:37:20.934315Z

Unilateral Hearing Impairment
type: Class
subclass of: Hearing Impairment by Ear Affected
hasExactSynonym: Bilateral HI
hasExactSynonym: Bilateral HL
hasExactSynonym: Bilateral Hearing Loss
hasExactSynonym: Hearing Loss, Unilateral
hasExactSynonym: Unilateral HI
hasExactSynonym: Unilateral HL
hasExactSynonym: Unilateral Hearing Loss
definition source: D046088
database cross reference: MESH:D046088
existence in other ontologies: Sufficient
creator: HIO (Jade Hotchkiss)
description: Partial or complete hearing loss in one ear.
created by: Jade Hotchkiss
creation date: 2019-08-13T13:16:08.017786Z

Bilateral Hearing Impairment
type: Class
subclass of: Hearing Impairment by Ear Affected
hasExactSynonym: Hearing Loss, Bilateral
existence in other ontologies: Suggest update to description
curator note: Suggest update to "Hearing Loss, Bilateral" in MESH
description: Hearing impairment in both ears.
created by: Jade Hotchkiss
creation date: 2019-08-13T13:16:08.019012Z

Symmetrical Bilateral Hearing Impairment
type: Class
subclass of: Bilateral Hearing Impairment
hasExactSynonym: Symmetrical Bilateral HI
hasExactSynonym: Symmetrical Bilateral HL
hasExactSynonym: Symmetrical Bilateral Hearing Loss
definition source: Configuration-of-Hearing-Loss
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: When the severity and configuration of hearing impairment is approximately the same in both ears.
created by: Jade Hotchkiss
creation date: 2019-08-13T13:34:33.253865Z

Asymmetrical Bilateral Hearing Impairment
type: Class
subclass of: Bilateral Hearing Impairment
hasExactSynonym: Asymmetrical Bilateral HI
hasExactSynonym: Asymmetrical Bilateral HL
hasExactSynonym: Asymmetrical Bilateral Hearing Loss
definition source: Configuration-of-Hearing-Loss
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: When each ear has a different severity and configuration of hearing impairment.
created by: Jade Hotchkiss
creation date: 2019-08-13T13:34:33.255122Z

History of Maternal TORCH Infections
type: Class
subclass of: Maternal Medical History
existence in other ontologies: None
curator note: Request inclusion into NCIT as a sub-class of "Maternal Medical History" (also requested for inclusion).
creator: HIO (Jade Hotchkiss)
description: A record of an individual's biological mother's history of Toxoplasmosis, Other Agents, Rubella, Cytomegalovirus, Herpes Simplex (TORCH) infections.
created by: Jade Hotchkiss
creation date: 2019-08-16T12:43:18.014813Z

Sudden Hearing Impairment
type: Class
subclass of: Clinical Phenotype
hasExactSynonym: Hearing Loss, Sudden
hasExactSynonym: Sudden HI
hasExactSynonym: Sudden HL
hasExactSynonym: Sudden Hearing Loss
definition source: D003639
database cross reference: MESH:D003639
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in MESH
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-13T13:59:46.304824Z

Functional Hearing Impairment
type: Class
subclass of: Hearing Impairment of Unknown Etiology
hasExactSynonym: FHL
hasExactSynonym: Functional Hearing Loss
hasExactSynonym: Hearing Impairment, Functional
hasExactSynonym: Hearing Loss, Functional
hasExactSynonym: Hearing Loss, Nonorganic
hasExactSynonym: NOHL
hasExactSynonym: Non-Organic Hearing Loss
hasExactSynonym: Nonorganic Hearing Loss
hasExactSynonym: Psychogenic Deafness
hasExactSynonym: Psychogenic Hearing Loss
definition source: D006315
database cross reference: MESH:D006315
existence in other ontologies: Sufficient
description: Hearing loss without a physical basis. Often observed in patients with psychological or behavioral disorders.
source: HIO_30169000
created by: Jade Hotchkiss
creation date: 2019-08-13T14:54:40.156668Z

Cogan Syndrome
type: Class
subclass of: Syndromic Hearing Impairment
hasExactSynonym: CS
hasExactSynonym: Cogan's Syndrome
hasExactSynonym: Diffuse Interstitual Keratitis
definition source: Orphanet 1467
database cross reference: ORPHA:1467
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-13T15:16:14.501377Z

Disease Modifier
type: Class
subclass of: Modifier
hasExactSynonym: Phenotypic Modifier
definition source: SCDO_0000391
database cross reference: SCDO:0000391
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-13T20:36:03.754131Z

Social Environment
type: Class
subclass of: Disease Modifier
hasExactSynonym: Social Ecology
definition source: D012931
database cross reference: MESH:D012931
existence in other ontologies: Sufficient
description: The aggregate of social and cultural institutions, forms, patterns, and processes that influence the life of an individual or community.
created by: Jade Hotchkiss
creation date: 2019-08-13T20:41:30.056883Z

Genetic Disease Modifier
type: Class
subclass of: Disease Modifier
definition source: SCDO_0000444
database cross reference: SCDO:0000444
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: A biological disease modifier that is of a genetic nature.
created by: Jade Hotchkiss
creation date: 2019-08-13T20:41:30.05814Z

Modifier Gene
type: Class
subclass of: Genetic Disease Modifier
hasExactSynonym: Gene, Modifier
definition source: D060045
database cross reference: MESH:D060045
existence in other ontologies: Sufficient
description: Genes with alleles that affect the phenotype associated with a nonallelic gene.
created by: Jade Hotchkiss
creation date: 2019-08-13T20:45:32.968516Z

Genetic Disorder
type: Class
subclass of: Genetic Disease Modifier
definition source: OGMS_0000047
database cross reference: OGMS:0000047
existence in other ontologies: Sufficient
description: A disorder whose etiology involves an abnormality in the nucleotide sequence of an organism's genome.
created by: Jade Hotchkiss
creation date: 2019-08-13T20:46:41.538681Z

Socioeconomic Factors
type: Class
subclass of: Social Environment
definition source: D012959
database cross reference: MESH:D012959
existence in other ontologies: Sufficient
description: Social and economic factors that characterize the individual or group within the social structure.
created by: Jade Hotchkiss
creation date: 2019-08-13T20:49:23.809412Z

Socioeconomic Status
type: Class
subclass of: Socioeconomic Factors
definition source: http://bioportal.bioontology.org/ontologies/APAONTO/
database cross reference: APAONTO:Socioeconomic_Status
existence in other ontologies: Sufficient
description: The combination of one's social class and income level. Includes socioeconomic differences between individuals or groups.
created by: Jade Hotchkiss
creation date: 2019-08-13T20:53:28.554104Z

Gene-Environment Interaction
type: Class
subclass of: Disease Modifier
definition source: D059647
database cross reference: MESH:D059647
existence in other ontologies: Sufficient
description: Combined effects of genotypes and environmental factors together to affect phenotypic characteristics.
created by: Jade Hotchkiss
creation date: 2019-08-13T21:03:58.399779Z

Community
type: Class
subclass of: Social Environment
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C16453
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-13T21:07:56.504218Z

Environmental Disease Modifier
type: Class
subclass of: Disease Modifier
definition source: SCDO_0000435
database cross reference: SCDO:0000435
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-13T21:10:30.285604Z

Health Behaviour
type: Class
subclass of: Environmental Disease Modifier
hasExactSynonym: Health Behavior
definition source: http://bioportal.bioontology.org/ontologies/APAONTO
database cross reference: APAONTO:Health_Behavior
existence in other ontologies: Sufficient
description: Individual lifestyle and behavior which may or may not enhance or maintain good health.
created by: Jade Hotchkiss
creation date: 2019-08-13T21:12:04.798058Z

Health Risk Behavior
type: Class
subclass of: Health Behaviour
hasExactSynonym: Health Risk Behaviors
hasExactSynonym: Risky Health Behavior
hasExactSynonym: Risky Health Behaviors
definition source: HIO_000073599
database cross reference: MESH:D000073599
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-13T21:17:30.356454Z

Physical Environment
type: Class
subclass of: Environmental Disease Modifier
definition source: SCDO_0000897
database cross reference: SCDO:0000897
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-13T21:19:06.935061Z

Built Environment
type: Class
subclass of: Physical Environment
definition source: ExO_0000048
database cross reference: ExO:0000048
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-13T21:21:46.595672Z

Geographic Location
type: Class
subclass of: Physical Environment
hasExactSynonym: Geographic Region
definition source: GAZ_00000448
database cross reference: GAZ:00000448
existence in other ontologies: Sufficient
description: A reference to a place on the Earth, by its name or by its geographical location.
created by: Jade Hotchkiss
creation date: 2019-08-13T21:21:46.59682Z

Rural Location
type: Class
subclass of: Geographic Location
hasExactSynonym: Rural
hasExactSynonym: Rural Area
hasExactSynonym: Rural Setting
definition source: SCDO_0001017
database cross reference: SCDO:0001017
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: An open swath of land that has few homes or other buildings, and not very many people.
created by: Jade Hotchkiss
creation date: 2019-08-13T21:24:09.711094Z

Urban Location
type: Class
subclass of: Geographic Location
hasExactSynonym: Urban
hasExactSynonym: Urban Area
hasExactSynonym: Urban Environment
hasExactSynonym: Urban Setting
definition source: SCDO_0001204
database cross reference: SCDO:0001204
existence in other ontologies: Sufficient
curator note: SCDO to request inclusion into relevant ontology. Update at a later stage if necessary.
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-13T21:24:09.712335Z

Modifier
type: Class
subclass of: HIO
existence in other ontologies: Not relevant to context of HLO
creator: HIO (Jade Hotchkiss)
description: A factor that changes another factor or entity in some way.
created by: Jade Hotchkiss
creation date: 2019-08-13T21:29:18.995664Z

Disease Cause Modifier
type: Class
subclass of: Modifier
existence in other ontologies: None
curator note: 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
creator: HIO (Jade Hotchkiss)
description: A factor that modifies one or more potential causes of a disease.
source: drug-induced-ototoxicity
created by: Jade Hotchkiss
creation date: 2019-08-13T21:35:31.596294Z

Infantile Onset
type: Class
subclass of: Pediatric Onset
hasExactSynonym: Onset in First Year of Life
hasExactSynonym: Onset in Infancy
definition source: HP_0003593
database cross reference: HP:0003593
existence in other ontologies: Sufficient
description: Onset of signs or symptoms of disease between 28 days to one year of life.
created by: Jade Hotchkiss
creation date: 2019-08-14T10:25:49.539625Z

Prelingual Onset
type: Class
subclass of: Pediatric Onset
definition source: Prelingual deafness
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in MONDO
creator: HIO (Jade Hotchkiss)
description: Onset of disease before the acquisition of speech and language, usually before the age of 6.
created by: Jade Hotchkiss
creation date: 2019-08-14T10:25:49.540814Z

Neonatal Onset
type: Class
subclass of: Age of Onset
hasExactSynonym: Onset in First Weeks of Life
hasExactSynonym: Onset in Neonatal Period
definition source: HP_0003623
database cross reference: HP:0003623
existence in other ontologies: Sufficient
description: Onset of signs or symptoms of disease within the first 28 days of life.
created by: Jade Hotchkiss
creation date: 2019-08-14T10:31:11.753342Z

Juvenile Onset
type: Class
subclass of: Pediatric Onset
hasExactSynonym: Signs and Symptoms Begin Before 15 Years of Age
definition source: HP_0003621
database cross reference: HP:0003621
existence in other ontologies: Sufficient
description: Onset of signs or symptoms of disease between the age of 5 and 15 years.
created by: Jade Hothckiss
creation date: 2019-08-14T10:50:46.763719Z

Acquired
type: Class
subclass of: Disease Qualifier
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C85869
existence in other ontologies: Sufficient
description: Of or relating to a medical condition or characteristic that is not present at birth but develops subsequently.
created by: Jade Hotchkiss
creation date: 2019-08-14T11:07:15.36997Z

Disease Qualifier
type: Class
subclass of: Disease Attribute
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C27992
existence in other ontologies: Sufficient
description: An adjectival term used to specify and describe a disease appearance or processes.
created by: Jade Hotchkiss
creation date: 2019-08-14T11:03:12.630198Z

Congenital
type: Class
subclass of: Disease Qualifier
hasExactSynonym: Connatal
hasExactSynonym: Inborn
definition source: MONDO_0021140
database cross reference: MONDO:0021140
existence in other ontologies: Sufficient
description: A characteristic of a disease in which the disease is present at birth, regardless of cause.
created by: Jade Hotchkiss
creation date: 2019-08-14T11:03:45.265732Z

Personal History of Tuberculosis
type: Class
subclass of: Personal Medical History
hasExactSynonym: History of TB
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in ICD10CM (currenlty no description)
creator: HIO (Jade Hotchkiss)
description: A record of an individual's history of Tuberculosis.
created by: Jade Hotchkiss
creation date: 2019-08-16T12:50:04.976082Z

Primary Caregiver
type: Class
subclass of: Personal Attribute
definition source: details
existence in other ontologies: Few but definitions not available
curator note: 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.
description: The primary person in charge of the care of a patient, usually a family member or a designated health care professional.
created by: Jade Hotchkiss
creation date: 2019-08-19T12:33:51.299499Z

Age at Diagnosis
type: Class
subclass of: Age
definition source: details
database cross reference: NCIT:C156420
existence in other ontologies: Sufficient
description: The age of an individual at the time of initial pathologic diagnosis.
created by: Jade Hotchkiss
creation date: 2019-08-19T12:37:28.125142Z

Genetic Susceptibility
type: Class
subclass of: Disease Cause Modifier
hasExactSynonym: Genetic Predisposition
definition source: OGSF_0000000
database cross reference: OGSF:0000000
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-20T09:46:15.363226Z

Duration of Therapy
type: Class
subclass of: Disease Cause Modifier
hasExactSynonym: Time Course of Drug Use
definition source: http://purl.bioontology.org/ontology/CSP/5000-0012
database cross reference: CSP:5000-0012
existence in other ontologies: Suggest update to description
curator note: Suggest CRISP removes "coordinate indexing with therapy or disease." from description.
description: Period of time a disease or treatment regimen occurs; includes therapies, education, interventions, prevention programs.
created by: Jade Hotchkiss
creation date: 2019-08-20T11:08:54.110281Z

Point Mutation
type: Class
subclass of: Mutation
definition source: NCIT C62200
database cross reference: NCIT:C62200
existence in other ontologies: Sufficient
description: A small scale mutation caused by the substitution of a single nucleotide for another nucleotide.
created by: Jade Hotchkiss
creation date: 2019-08-29T20:57:03.81501Z

Deletion Mutation
type: Class
subclass of: Mutation
hasExactSynonym: Deletion Abnormality
definition source: NCIT C19296
database cross reference: NCIT:C19296
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-29T20:57:03.816649Z

Indel Mutation
type: Class
subclass of: Mutation
hasExactSynonym: Insertion-Deletion Mutation
definition source: D054643
database cross reference: MeSH:D054643
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-29T20:57:03.81824Z

Insertion
type: Class
subclass of: Mutation
hasExactSynonym: Gene Insertion
hasExactSynonym: Insertion Mutation
definition source: D016254
database cross reference: MESH:D016254
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-29T20:57:03.819768Z

Missense Mutation
type: Class
subclass of: Point Mutation
definition source: NCIT C18133
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-29T20:57:51.889183Z

Nonsense Mutation
type: Class
subclass of: Point Mutation
hasExactSynonym: Premature Termination Abnormality
hasExactSynonym: Premature Termination Mutation
definition source: NCIT C62198
database cross reference: NCIT:C62198
existence in other ontologies: Sufficient
description: A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein.
created by: Jade Hotchkiss
creation date: 2019-08-29T20:57:51.890709Z

Silent Mutation
type: Class
subclass of: Point Mutation
hasExactSynonym: Exon Synonymous Mutation
hasExactSynonym: Exonic Synonymous Mutation
hasExactSynonym: Synonymous Mutation
definition source: NCIT C20629
database cross reference: NCIT:C20629
existence in other ontologies: Sufficient
description: A point mutation occurring within the protein-coding region of a gene, and which codes for the same amino acid as expected.
created by: Jade Hotchkiss
creation date: 2019-08-29T20:57:51.891872Z

Genetic Polymorphism
type: Class
subclass of: Genetic Variation
definition source: NCIT C17004
database cross reference: NCIT:C17004
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-29T21:13:46.258595Z

Genetic Recombination
type: Class
subclass of: Genetic Variation
hasExactSynonym: Recombination
hasExactSynonym: Recombination, Genetic
definition source: D011995
database cross reference: MESH:D011995
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-29T21:14:37.964076Z

Pharmacogenomic Variants
type: Class
subclass of: Genetic Polymorphism
definition source: http://purl.bioontology.org/ontology/MESH/D000071184
database cross reference: MESH:D000071184
existence in other ontologies: Sufficient
description: 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).
created by: Jade Hotchkiss
creation date: 2019-08-29T21:15:44.992069Z

Single Nucleotide Polymorphism
type: Class
subclass of: Genetic Polymorphism
created by: Jade Hotchkiss
creation date: 2019-08-29T21:15:44.993678Z

Homologous Recombination
type: Class
subclass of: Genetic Recombination
hasExactSynonym: Homologous Recombinations
definition source: D059765
existence in other ontologies: Sufficient
description: An exchange of DNA between matching or similar sequences.
created by: Jade Hotchkiss
creation date: 2019-08-29T21:19:01.40354Z

Genetic Crossing Over
type: Class
subclass of: Homologous Recombination
hasExactSynonym: Crossing Over, Genetic
definition source: D003434
database cross reference: MESH:D003434
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-29T21:20:11.774261Z

Genetic Code
type: Class
subclass of: Genetic Structure
definition source: D005815
database cross reference: MESH:D005815
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-29T21:26:41.455347Z

Anticodon
type: Class
subclass of: Genetic Code
definition source: D000926
database cross reference: MESH:D000926
existence in other ontologies: Sufficient
description: The sequential set of three nucleotides in transfer RNA that interacts with its complement in messenger RNA, the Codon, during translation in the ribosome.
created by: Jade Hotchkiss
creation date: 2019-08-29T21:28:01.774846Z

Codon
type: Class
subclass of: Genetic Code
definition source: D003062
database cross reference: MESH:D003062
existence in other ontologies: Sufficient
description: 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).
created by: Jade Hotchkiss
creation date: 2019-08-29T21:28:01.775789Z

Initiator Codon
type: Class
subclass of: Codon
hasExactSynonym: Codon, Initiation
hasExactSynonym: Codon, Initiator
hasExactSynonym: Initiation Codon
hasExactSynonym: Initiation Codons
hasExactSynonym: Initiator Codons
hasExactSynonym: Start Codon
hasExactSynonym: Start Codons
definition source: D018387
database cross reference: MESH:D018387
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-29T21:30:00.005587Z

Nonsense Codon
type: Class
subclass of: Codon
definition source: D018389
database cross reference: MESH:D018389
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hotchkiss
creation date: 2019-08-29T21:30:00.006643Z

Hearing Impairment by Cause
type: Class
subclass of: Hearing Impairment
hasExactSynonym: HI by Cause
hasExactSynonym: HL by Cause
hasExactSynonym: Hearing Loss by Cause
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: The classification of hearing impairments according to the agent, event, condition or characteristic which play an essential role in producing the hearing impairments.
created by: Jade Hotchkiss
creation date: 2019-09-02T09:21:12.841508Z

Hearing Impairment of Genetic Origin
type: Class
subclass of: Hearing Impairment by Cause
hasExactSynonym: Hearing Loss of Genetic Origin
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: A hearing impairment in which a disease causing genetic factor plays an essential role in producing the hearing impairment.
created by: Jade Hotchkiss
creation date: 2019-09-02T09:23:38.61916Z

Hearing Impairment of Environmental Aetiology
type: Class
subclass of: Hearing Impairment by Cause
hasExactSynonym: Hearing Loss of Environmental Aetiology
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: A hearing impairment in which an environmental disease cause plays an essential role in producing the hearing impairment.
created by: Jade Hotchkiss
creation date: 2019-09-02T09:25:39.53984Z

Hearing Impairment of Unknown Etiology
type: Class
subclass of: Hearing Impairment by Cause
hasExactSynonym: Hearing Impairment of Unknown Cause
hasExactSynonym: Hearing Loss of Unknown Cause
hasExactSynonym: Hearing Loss of Unknown Etiology
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: 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.
created by: Jade Hotchkiss
creation date: 2019-09-02T10:26:28.139829Z

Metabolic Disease
type: Class
subclass of: Disease or Disorder Associated with Hearing Impairment
definition source: EFO_0000589
database cross reference: EFO:0000589
existence in other ontologies: Sufficient
description: Generic term for diseases caused by an abnormal metabolic process.
created by: Jade Hotchkiss
creation date: 2019-09-02T10:33:12.638375Z

Hematologic and Lymphocytic Disorder
type: Class
subclass of: Disease or Disorder Associated with Hearing Impairment
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C26323
existence in other ontologies: Sufficient
description: 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.
created by: Jade Hothckiss
creation date: 2019-09-02T11:05:27.054751Z

Urinary System Disease
type: Class
subclass of: Disease or Disorder Associated with Hearing Impairment
hasExactSynonym: Disorder of Urinary System
hasExactSynonym: Renal Disease
hasExactSynonym: Urinary Tract Disease
definition source: EFO_0009690
database cross reference: EFO:0009690
existence in other ontologies: Sufficient
description: A disease involving the renal system.
created by: Jade Hotchkiss
creation date: 2019-09-02T12:17:22.623521Z

Auditory System Disease or Disorder
type: Class
subclass of: Disease or Disorder Associated with Hearing Impairment
hasExactSynonym: Disease or Disorder of Auditory System
definition source: EFO_1001455
database cross reference: EFO:1001455
existence in other ontologies: Sufficient
description: Pathological processes of the ear, the hearing, and the equilibrium system of the body.
created by: Jade Hotchkiss
creation date: 2019-09-02T12:22:57.205261Z

Hearing Impairment by Onset
type: Class
subclass of: Hearing Impairment
hasExactSynonym: HI by Onset
hasExactSynonym: HL by Onset
hasExactSynonym: Hearing Loss by Onset
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Hearing loss according to when it first occurs.
created by: Jade Hotchkiss
creation date: 2019-09-03T16:15:09.845773Z

Acquired Hearing Impairment
type: Class
subclass of: Hearing Impairment by Onset
hasExactSynonym: Acquired HI
hasExactSynonym: Acquired HL
hasExactSynonym: Acquired Hearing Loss
definition source: Acquired-Hearing-Loss
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Hearing loss that occurs any time after birth.
created by: Jade Hotchkiss
creation date: 2019-09-03T16:57:59.324538Z

Congenital Hearing Impairment
type: Class
subclass of: Hearing Impairment by Onset
hasExactSynonym: Congenital HI
hasExactSynonym: Congenital HL
hasExactSynonym: Congenital Hearing Loss
definition source: Congenital-Hearing-Loss
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Hearing loss that is present at birth.
created by: Jade Hotchkiss
creation date: 2019-09-03T16:57:59.325573Z

Postlingual Hearing Impairment
type: Class
subclass of: Hearing Impairment by Stage of Language Development
subclass of: Acquired Hearing Impairment
hasExactSynonym: Postlingual Deafness
hasExactSynonym: Postlingual Hearing Loss
definition source: Post-lingual deafness
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Hearing impairment which develops after the acquisition of speech and language, usually after the age of six.
source: Post-lingual deafness
created by: Jade Hotchkiss
creation date: 2019-09-03T17:01:14.593854Z
comment: Post-lingual hearing impairments are far more common than prelingual deafness

Prelingual Hearing Impairment
type: Class
subclass of: Hearing Impairment by Stage of Language Development
subclass of: Pediatric Onset Hearing Impairment
hasExactSynonym: Prelingual Deafness
hasExactSynonym: Prelingual Hearing Loss
definition source: Prelingual deafness
existence in other ontologies: None
description: Hearing impairment which is either congenital or develops before the acquisition of speech and language, usually before the age of 6.
created by: Jade Hotchkiss
creation date: 2019-09-03T17:01:14.594964Z

Adult Onset Hearing Impairment
type: Class
subclass of: Acquired Hearing Impairment
hasExactSynonym: Adult Onset Deafness
hasExactSynonym: Adult Onset Hearing Loss
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Hearing impairment that begins manifesting during adulthood (at the age of 16 years or later).
source: HP_0003581
created by: Jade Hotchkiss
creation date: 2019-09-03T17:08:03.165385Z

Pediatric Onset Hearing Impairment
type: Class
subclass of: Acquired Hearing Impairment
hasExactSynonym: Paediatric Onset Deafness
hasExactSynonym: Paediatric Onset Hearing Impairment
hasExactSynonym: Paediatric Onset Hearing Loss
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Hearing impairment that begins manifesting before adulthood (before the age of 16 years, but excluding neonatal or congenital onset).
source: HP_0410280
created by: Jade Hotchkiss
creation date: 2019-09-03T17:08:03.166355Z

Childhood Onset Hearing Impairment
type: Class
subclass of: Pediatric Onset Hearing Impairment
hasExactSynonym: Childhood Onset Deafness
hasExactSynonym: Childhood Onset Hearing Loss
hasExactSynonym: Hearing Impairment with Onset in Childhood
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Hearing impairment that begins manifesting at the age of between 1 and 5 years (not including the fifth birthday).
source: HP_0011463
created by: Jade Hotchkiss
creation date: 2019-09-03T17:08:03.16738Z

Infantile Onset Hearing Impairment
type: Class
subclass of: Pediatric Onset Hearing Impairment
hasExactSynonym: Hearing Impairment with Onset in Infancy
hasExactSynonym: Infantile Onset Deafness
hasExactSynonym: Infantile Onset Hearing Loss
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Hearing impairment that begins manifesting between 28 days to one year of life.
source: HP_0003593
created by: Jade Hotchkiss
creation date: 2019-09-03T17:08:03.168358Z

Adult Onset Sensorineural Hearing Impairment
type: Class
subclass of: Adult Onset Hearing Impairment
hasExactSynonym: Sensorineural Deafness, Late-Onset
definition source: HP_0008615
database cross reference: HP:0008615
existence in other ontologies: Suggest update to description
curator note: Suggest update to description in HPO
description: Sensorineural hearing impairment that begins manifesting during adulthood (at the age of 16 years or later).
created by: Jade Hotchkiss
creation date: 2019-09-03T17:12:14.921893Z

Neonatal Onset Hearing Impairment
type: Class
subclass of: Acquired Hearing Impairment
hasExactSynonym: Neonatal Onset Hearing Loss
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Hearing impairment that begins manifesting within the first 28 days of life.
created by: Jade Hotchkiss
creation date: 2019-09-03T17:57:00.494767Z

Standing Balance
type: Class
subclass of: Diagnostic Measurement

Postural Sway
type: Class
subclass of: Diagnostic Measurement

Audiometer
type: Class
subclass of: Diagnostic Device

Two-Channel Audiometer
type: Class
subclass of: Audiometer

Accelerometer
type: Class
subclass of: Diagnostic Device

Auditory Brainstem Response
type: Class
subclass of: Diagnostic Measurement

Configuration of Hearing Loss
type: Class
subclass of: Diagnostic Measurement

Air Conduction Testing
type: Class
subclass of: Audiometry

Balance and Cerebellar Test
type: Class
subclass of: Diagnostic Technique, Method, Test or Assay

NIH Toolbox Standing Balance Test
type: Class
subclass of: Balance and Cerebellar Test
definition source: details
database cross reference: cogat:CAO_01322
existence in other ontologies: Sufficient
curator note: Link to Accelerometer
description: 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.

Stenger Test
type: Class
subclass of: Hearing Test

Test for Endolymphatic Hydrops
type: Class
subclass of: Diagnostic Technique, Method, Test or Assay

Head and Neck Examination
type: Class
subclass of: Physical Examination

Cranial Nerve Test
type: Class
subclass of: Diagnostic Technique, Method, Test or Assay

Interaural Time Difference
type: Class
subclass of: Diagnostic Measurement

Interaural Intensity Difference
type: Class
subclass of: Diagnostic Measurement

Change Since Last Hearing Test
type: Class
subclass of: Diagnostic Measurement

Otoacoustic Emissions
type: Class
subclass of: Diagnostic Measurement
hasExactSynonym: OAEs

Otoacoustic Emissions Test
type: Class
subclass of: Hearing Test
hasExactSynonym: OAE Recording
hasExactSynonym: OAE Test
definition source: http://bioportal.bioontology.org/ontologies/ONSTR
existence in other ontologies: Sufficient
description: 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.

Auditory Brainstem Response Test
type: Class
subclass of: Hearing Test

Whisper Test
type: Class
subclass of: Hearing Test

Acoustic Immittance
type: Class
subclass of: Diagnostic Measurement
created by: H3Africa
creation date: 2019-10-30T10:39:17.904519Z

Acoustic Immittance Testing
type: Class
subclass of: Audiologic Function Test

Tympanometry
type: Class
subclass of: Acoustic Immittance Testing
hasExactSynonym: Impedance Testing
definition source: MMO_0000624
database cross reference: MMO:0000624
existence in other ontologies: Sufficient
description: 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.

Acoustic Reflex Threshold Testing
type: Class
subclass of: Acoustic Immittance Testing

Audiologic Function Test
type: Class
subclass of: Diagnostic Technique, Method, Test or Assay

Audiometry, Pure-Tone
type: Class
subclass of: Audiometry
hasExactSynonym: Bekesy Audiometry
hasExactSynonym: Pure-Tone Audiometry
definition source: D001301
database cross reference: MESH:D001301
existence in other ontologies: Sufficient
description: Measurement of hearing based on the use of pure tones of various frequencies and intensities as auditory stimuli.

Acoustic Reflex Threshold
type: Class
subclass of: Diagnostic Measurement

Acoustic Reflex Decay Testing
type: Class
subclass of: Acoustic Immittance Testing

Acoustic Reflex Decay
type: Class
subclass of: Diagnostic Measurement

Tympanometer
type: Class
subclass of: Diagnostic Device

Hearing Impairment based on Immaturity
type: Class
subclass of: Hearing Impairment of Environmental Aetiology
subclass of: Neonatal Onset Hearing Impairment
hasExactSynonym: Hearing Impairment due to Prematurity
hasExactSynonym: Hearing Loss based on Immaturity
hasExactSynonym: Hearing Loss due to Prematurity
definition source: HP_0001622
definition source: vision-and-hearing-tests
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Hearing impairment that occurs due to premature birth (birth at or before 37 weeks of gestational age).

Employment History
type: Class
subclass of: Personal Attribute
hasExactSynonym: Work History
hasExactSynonym: Work Record
definition source: http://bioportal.bioontology.org/ontologies/APAONTO
database cross reference: APAONTO:Employment_History
existence in other ontologies: Sufficient
description: Past record of an individual's working life, including periods of unemployment.

Abnormal Inner Ear Morphology
type: Class
subclass of: Abnormal Ear Morphology
hasExactSynonym: Inner Ear Dysplasia
definition source: MP_0000026
database cross reference: MP:0000026
existence in other ontologies: Sufficient
description: Any structural anomaly of any components of the labyrinth, including the semicircular canals, vestibule and cochlea.

Audiogram
type: Class
subclass of: Diagnostic Device Visual Output
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C92448
existence in other ontologies: Sufficient
description: A graphic record of the softest sounds that a person can hear at various frequencies, used to measure hearing loss.

Abnormal Hearing Electrophysiology
type: Class
subclass of: Abnormal Hearing Physiology
definition source: MP_0006335
database cross reference: MP:0006335
existence in other ontologies: Sufficient
description: Anomaly in auditory function as it relates to electrical phenomena.

Educating About Causes of Hearing Loss
type: Class
subclass of: Primary Preventative Therapeutics
definition source: deafness-and-hearing-loss
existence in other ontologies: None
creator: HIO (Samuel Mawuli Adadey)
description: Educating young people and population in general on hearing loss, its causes, prevention and identification.

External Auditory Canal Atresia
type: Class
subclass of: Abnormal External Auditory Canal Morphology
subclass of: Auditory System Disease or Disorder
hasExactSynonym: Absent Auditory Canals
hasExactSynonym: Absent Ear Canal
hasExactSynonym: Atresia of the External Auditory Canal
hasExactSynonym: Atresia of the External Auditory Canals
hasExactSynonym: Atretic Auditory Canal
hasExactSynonym: Atretic Auditory Canals
hasExactSynonym: Atretic External Auditory Cana
hasExactSynonym: Atretic External Auditory Canals
hasExactSynonym: Auditory Canal Atresia
hasExactSynonym: External Acoustic Meatus Atresia
hasExactSynonym: External Auditory Meatal Atresia
hasExactSynonym: External Auditory Meatus Atresia
definition source: HP_0000413
database cross reference: HP:0000413
existence in other ontologies: Sufficient
description: Absence or failure to form of the external auditory canal.

Abnormal Ear Physiology
type: Class
subclass of: Abnormality of the Ear
definition source: MP_0003878
database cross reference: MP:0003878
existence in other ontologies: Sufficient
description: Any functional anomaly of the ear, not due to an anatomical defect.

Personal History of Otological Treatment
type: Class
subclass of: Personal Medical History
definition source: https://www.nap.edu/read/11099/chapter/5#70
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: A record of an individual's history of otological treatment.

Mumps
type: Class
subclass of: Infection
hasExactSynonym: Epidemic Parotitides
hasExactSynonym: Epidemic Parotitis
definition source: D009107
database cross reference: MESH:D009107
existence in other ontologies: Sufficient
description: 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.

Background Noise
type: Class
subclass of: Physical Environment
hasExactSynonym: Ambient Noise
definition source: Background noise
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: Any sound other than the sound being monitored (primary sound).

Vertigo
type: Class
subclass of: Abnormal Vestibular System Physiology
definition source: SYMP_0000399
database cross reference: SYMP:0000399
existence in other ontologies: Sufficient
description: 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.

Vestibular Function Test
type: Class
subclass of: Diagnostic Technique, Method, Test or Assay
hasExactSynonym: VFT
hasExactSynonym: Vestibular Function Tests
definition source: A test used to determine if the brain or balance portion of the inner ear are causing dizziness.
database cross reference: MESH:D014724
existence in other ontologies: Sufficient
description: A test used to determine if the brain or balance portion of the inner ear are causing dizziness.

Pneumatic Otoscopy
type: Class
subclass of: Otoscopy
definition source: 1348950-overview
existence in other ontologies: Few but definitions not available
creator: HIO (Jade Hotchkiss)
description: An examination that allows determination of the mobility of a patient's tympanic membrane (TM) in response to pressure changes.

Meningitis
type: Class
subclass of: Infection
hasExactSynonym: Inflammation of Meninx
hasExactSynonym: Meninx Inflammation
existence in other ontologies: Few but definitions not specific enough
creator: HIO (Noluthando Manyisa)
description: 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.

Hearing Test
type: Class
subclass of: Audiologic Function Test
definition source: D006320
database cross reference: MESH:D006320
existence in other ontologies: Sufficient
description: Part of an ear examination that measures the ability of sound to reach the brain.

Abnormal Hearing Physiology
type: Class
subclass of: Abnormal Ear Physiology
hasExactSynonym: Abnormal Auditory Perception
hasExactSynonym: Abnormal Auditory Physiology
hasExactSynonym: Auditory Abnormalities
definition source: MP_0001963
database cross reference: MP:0001963
existence in other ontologies: Sufficient
description: Any functional anomaly in the ability to perceive auditory stimuli.

Otoscopy
type: Class
subclass of: Physical Examination
definition source: D038781
definition source: Examination of the ear canal and eardrum with an otoscope.
database cross reference: MESH:D038781
existence in other ontologies: Sufficient
description: Examination of the ear canal and eardrum with an otoscope.

App-Based Hearing Test
type: Class
subclass of: Hearing Test
definition source: drc-20373077
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: A test made available via a mobile app that can be used to self-screen for moderate hearing loss.

Audiometry
type: Class
subclass of: Hearing Test
hasExactSynonym: Audiometer Test
hasExactSynonym: Audiometric Test
definition source: D001299
database cross reference: MESH:D001299
existence in other ontologies: Sufficient
description: 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 Auditory Brainstem Response
type: Class
subclass of: Abnormal Hearing Electrophysiology
hasExactSynonym: Abnormal ABRs
hasExactSynonym: Abnormal BAEP(s)
hasExactSynonym: Abnormal Brainstem Auditory Brainstem Response(s)
hasExactSynonym: Abnormal Brainstem Auditory Evoked Potential
hasExactSynonym: Abnormal Brainstem Evoked Responses
definition source: MP_0004738
database cross reference: MP:0004738
existence in other ontologies: Sufficient
description: 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

Immunization
type: Class
subclass of: Primary Preventative Therapeutics
hasExactSynonym: Sensitization, Immunologic
definition source: D007114
database cross reference: MESH:D007114
existence in other ontologies: Sufficient
description: 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).

Abnormal Vestibular System Physiology
type: Class
subclass of: Abnormal Ear Physiology
hasExactSynonym: Impaired Vestibular Function
hasExactSynonym: Vestibular Dysfunction
hasExactSynonym: Vestibular Function Defect
definition source: MP_0004742
database cross reference: MP:0004742
existence in other ontologies: Sufficient
description: 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.

Otosclerosis
type: Class
subclass of: Auditory System Disease or Disorder
subclass of: Abnormal Bony Labyrinth
definition source: MP_0004897
database cross reference: MP:0004897
existence in other ontologies: Sufficient
description: 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.

Tinnitus
type: Class
subclass of: Abnormal Hearing Physiology
definition source: MP_0003741
database cross reference: MP:0003741
existence in other ontologies: Sufficient
description: Persistent sensation of buzzing, ringing, clicking, or other noises in the ear.

Gait
type: Class
subclass of: Diagnostic Measurement
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C75445
existence in other ontologies: Sufficient
description: A pattern or manner of running, walking, or moving on foot.

Caloric Test
type: Class
subclass of: Vestibular Function Test
hasExactSynonym: Barany's Test
hasExactSynonym: Baranys Test
hasExactSynonym: Caloric Tests
definition source: D002150
database cross reference: MESH:D002150
existence in other ontologies: Sufficient
description: 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.

Bone Conduction Testing
type: Class
subclass of: Audiometry
hasExactSynonym: Bone Conduction Assessment
hasExactSynonym: Bone Conduction Hearing Test
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C60916
existence in other ontologies: Sufficient
description: 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.

Bone Vibrator
type: Class
subclass of: Diagnostic Device
hasExactSynonym: Bone Conduction Vibrator
hasExactSynonym: Bone Conductor
definition source: bone-vibrators-in-general
existence in other ontologies: Few but definitions not freely available
creator: HIO (Jade Hotchkiss)
description: 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.

Otoscope
type: Class
subclass of: Diagnostic Device
hasExactSynonym: Auriscope
definition source: D019720
database cross reference: MESH:D019720
existence in other ontologies: Sufficient
description: 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.

Abnormal Bony Labyrinth
type: Class
subclass of: Abnormal Inner Ear Morphology
hasExactSynonym: Abnormal Labyrinthus Osseus
hasExactSynonym: Abnormal Osseous Labyrinth
definition source: MP_0004289
database cross reference: MP:0004289
existence in other ontologies: Sufficient
description: 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.

Cytomegalovirus Infection
type: Class
subclass of: Infection
hasExactSynonym: CMV Infection
hasExactSynonym: Cytomegaloviral Infection
hasExactSynonym: HCMV Infection
database cross reference: HIO (Noluthando Manyisa)
existence in other ontologies: Few but definitions not specific enough
description: 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.

Personal History of Ear Surgery
type: Class
subclass of: Personal History of Otological Treatment
definition source: https://www.nap.edu/read/11099/chapter/5#70
existence in other ontologies: None
creator: HIO (Jade Hotchkiss)
description: A record of an individual's history of ear surgery.

Daily or Recreational Activity
type: Class
subclass of: Personal Attribute
definition source: http://bioportal.bioontology.org/ontologies/ROO
database cross reference: STY:T056
existence in other ontologies: Sufficient
description: An activity carried out for recreation or exercise, or as part of daily life.