WormMine: DiseaseOntology DOID:0111737 X-linked deafness 2 Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1.

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:0111737	X-linked deafness 2	An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1.

10 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:0050566	DOID:0111737
is_a	DOID:0050177	DOID:0111737
is_a	DOID:0050155	DOID:0111737
is_a	DOID:4	DOID:0111737
is_a	DOID:0050563	DOID:0111737
is_a	DOID:2742	DOID:0111737
is_a	DOID:0050735	DOID:0111737
is_a	DOID:7	DOID:0111737
is_a	DOID:630	DOID:0111737
is_a	DOID:863	DOID:0111737

14 Synonyms

• Name: mixed deafness with perilymphatic gusher
• Type: synonym

• Name: Nance deafness
• Type: synonym

• Name: X-linked deafness type 2
• Type: synonym

• Name: X-linked mixed conductive and neurosensory deafness
• Type: synonym

• Name: X-linked mixed conductive and neurosensory hearing loss
• Type: synonym

• Name: X-linked mixed conductive and sensorineural deafness
• Type: synonym

• Name: X-linked mixed conductive and sensorineural hearing loss
• Type: synonym

• Name: X-linked sensorineural deafness
• Type: synonym

• Name: X-linked stapes gusher syndrome
• Type: synonym

• Name: DOID:0080783
• Type: alt_id

• Name: conductive deafness 3 with stapes fixation
• Type: synonym

• Name: conductive deafness with stapes fixation
• Type: synonym

• Name: DFN3
• Type: synonym

• Name: DFNX2
• Type: synonym