Autosomal Domit Nonsyndromic Deafness 51
Disease ID: disease_node_15079
Connections displayed (default: 10).
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| Dbxref | ICD10CM:H90.3, MIM:613558 |
|---|---|
| Subclassof | DOID_0050564, DOID_0060429 |
| Data Source | DOID |
| Synonyms | DFNA51, autosomal dominant deafness 51, chromosome 9q21.11 duplication syndrome |
| Doid Label | autosomal domit nonsyndromic deafness 51 |
| Doid Description | An autosomal domit 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. |
| Disease Node Id | disease_node_15079 |
| Doid Id | DOID_0110577 |
| Label | Autosomal Domit Nonsyndromic Deafness 51 |
- Outgoing r'ship
SUBCLASS_OFto/from Chromosomal Duplication Syndrome(ID:disease_node_13621) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Nonsyndromic Deafness(ID:disease_node_15056) (Disease)