WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111736 X-linked deafness 3 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2.

1 Ontology

Name
Disease Ontology

11 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:863 nervous system disease A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
DOID:0050155 sensory system disease A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell).
DOID:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:2742 auditory system disease A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.
DOID:0050735 X-linked monogenic disease A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
DOID:0050563 nonsyndromic deafness An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.
DOID:0050566 X-linked nonsyndromic deafness A nonsyndromic deafness characterized by an X-linked inheritance mode.
DOID:0111736 X-linked deafness 3 An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050566 DOID:0111736
is_a DOID:4 DOID:0111736
is_a DOID:0050735 DOID:0111736
is_a DOID:0050563 DOID:0111736
is_a DOID:2742 DOID:0111736
is_a DOID:0050177 DOID:0111736
is_a DOID:0050155 DOID:0111736
is_a DOID:630 DOID:0111736
is_a DOID:7 DOID:0111736
is_a DOID:863 DOID:0111736

3 Synonyms

Name Type
congenital sensorineural X-linked deafness 4 synonym
DFN4 synonym
DFNX3 synonym