Deafness, Autosomal Recessive 1A

Preferred Label : Deafness, Autosomal Recessive 1A;

NCIt synonyms : DFNB1A;

NCIt definition : An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.;

Details

Origin ID

C129022;

UMLS CUI

C2673759;

Currated CISMeF NLP mapping
- Deafness, autosomal recessive 1a [OMIM Phenotype]
- autosomal recessive nonsyndromic deafness 1A [DO Concept]
- deafness, autosomal recessive 1A [MeSH concept]
- deafness, autosomal recessive 1A [MeSH Supplementary Concept]
Has associated anatomic sites
- Ear [NCIt concept]
- Head and Neck [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, autosomal recessive 1a [OMIM Phenotype]
- autosomal recessive nonsyndromic deafness 1A [DO Concept]
- deafness, autosomal recessive 1A [MeSH Supplementary Concept]
- deafness, autosomal recessive 1A [MeSH 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
- GJB2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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