OBO ID: DOID:0080720
Term Name: autosomal dominant congenital deafness with onychodystrophy Search Ontology:
Synonyms:
Definition: A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21. https://pubmed.ncbi.nlm.nih.gov/28396750/
References:
Ontology: Human Disease   ( DOID:0080720 )
OTHER autosomal dominant congenital deafness with onychodystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP6V1B2 Deafness, congenital, with onychodystrophy, autosomal dominant 124480
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None