Search Ontology:
Human Disease
autosomal dominant nonsyndromic deafness 51
- Term ID
- DOID:0110577
- Synonyms
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- autosomal dominant deafness 51
- chromosome 9q21.11 duplication syndrome
- DFNA51
- Definition
- An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. https://www.ncbi.nlm.nih.gov/pubmed/20602916
- References
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- ICD10CM:H90.3
- MIM:613558
- Ontology
- Human Disease ( DOID:0110577 )
- is a type of
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Genes Involved
Zebrafish Models