Autosomal Domit Nonsyndromic Deafness 1
Disease ID: disease_node_15115
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| Dbxref | ICD10CM:H90.3, MIM:124900 |
|---|---|
| Subclassof | DOID_0050564 |
| Data Source | DOID |
| Synonyms | DFNA1, Konigsmark syndrome, LFHL1, autosomal dominant deafness 1, autosomal dominant deafness 1, with or without thrombocytopenia, hereditary low frequency hearing loss 1 |
| Doid Label | autosomal domit nonsyndromic deafness 1 |
| Doid Description | An autosomal domit nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. |
| Disease Node Id | disease_node_15115 |
| Doid Id | DOID_0110541 |
| Label | Autosomal Domit Nonsyndromic Deafness 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Nonsyndromic Deafness(ID:disease_node_15056) (Disease)