Autosomal Recessive Nonsyndromic Deafness 1A
Disease ID: disease_node_15040
Connections displayed (default: 10).
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| Dbxref | ICD10CM:H90.3, MIM:220290 |
|---|---|
| Subclassof | DOID_0050565, DOID_0080578 |
| Data Source | DOID |
| Synonyms | DFNB1A, autosomal recessive deafness 1A |
| Doid Label | autosomal recessive nonsyndromic deafness 1A |
| Doid Description | An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. |
| Has Material Basis In | GENO_0000930 |
| Disease Node Id | disease_node_15040 |
| Doid Id | DOID_0110475 |
| Label | Autosomal Recessive Nonsyndromic Deafness 1A |
- Outgoing r'ship
SUBCLASS_OFto/from Digenic Disease(ID:disease_node_13627) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Nonsyndromic Deafness(ID:disease_node_14962) (Disease)