Autosomal Dominant Congenital Deafness with Onychodystrophy

Preferred Label : Autosomal Dominant Congenital Deafness with Onychodystrophy;

NCIt synonyms : DDOD Syndrome; Autosomal Dominant Deafness-onychodystrophy Syndrome;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the ATP6V1B2 gene, encoding V-type proton ATPase subunit B, brain isoform. It is characterized by congenital deafness and onychodystrophy.;

Details

Origin ID

C175240;

UMLS CUI

C2675730;

Automatic exact mappings (from CISMeF team)
- autosomal dominant congenital deafness with onychodystrophy [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant deafness with onychodystrophy syndrome (disorder) [SNOMED CT concept]
- Autosomal dominant deafness-onychodystrophy syndrome [ORDO Disease]
- Deafness, congenital, with onychodystrophy, autosomal dominant [OMIM Phenotype]
- deafness, congenital, and onychodystrophy, autosomal dominant [MeSH Supplementary Concept]
- deafness, congenital, and onychodystrophy, autosomal dominant [MeSH 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)
- Autosomal dominant deafness with onychodystrophy syndrome (disorder) [SNOMED CT concept]
- Deafness, congenital, with onychodystrophy, autosomal dominant [OMIM Phenotype]
- deafness, congenital, and onychodystrophy, autosomal dominant [MeSH Supplementary Concept]
- deafness, congenital, and onychodystrophy, autosomal dominant [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ATP6V1B2 Gene [NCIt concept]

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