Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct

Preferred Label : Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct;

NCIt synonyms : DFNB4; Autosomal Recessive Deafness-4 with Enlarged Vestibular Aqueduct;

NCIt definition : An autosomal recessive condition caused by mutation(s) in one of several genes, most often SLC26A4 encoding pendrin. It is characterized by hearing loss and enlargement of the vestibular aqueduct. Mutation(s) in the SLC26A4 gene also cause Pendred syndrome.;

Details

Origin ID

C158787;

UMLS CUI

C3538946;

CISMeF manual mappings
- Deafness, autosomal recessive 4, with enlarged vestibular aqueduct [OMIM Phenotype]
- autosomal recessive nonsyndromic deafness 4 [DO Concept]
Has associated anatomic sites
- Ear [NCIt concept]
- Head and Neck [NCIt concept]
See also inter- (CISMeF)
- Deafness, Autosomal Recessive 4 [MeSH Supplementary Concept]
- Enlarged vestibular aqueduct [HPO term]
- enlarged vestibular aqueduct [DO Concept]
- enlarged vestibular aqueduct [MeSH concept]
- enlarged vestibular aqueduct [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, Autosomal Recessive 4 [MeSH Supplementary Concept]
- Deafness, autosomal recessive 4, with enlarged vestibular aqueduct [OMIM Phenotype]
- autosomal recessive nonsyndromic deafness 4 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Ear [NCIt concept]
- Head and Neck [NCIt concept]
disease_mapped_to_gene
- SLC26A4 Gene [NCIt concept]

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