X-Linked Deafness 5
Disease ID: disease_node_19407
Connections displayed (default: 10).
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| Dbxref | MIM:300614, ORDO:139583 |
|---|---|
| Subclassof | DOID_0080012, DOID_870 |
| Data Source | DOID |
| Synonyms | AUNX1, DFNX5, X-linked HSAN with deafness, X-linked auditory neuropathy 1 with peripheral sensory neuropathy, X-linked auditory neuropathy with peripheral sensory neuropathy type 1 |
| Doid Label | X-linked deafness 5 |
| Doid Description | A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_19407 |
| Doid Id | DOID_0111741 |
| Label | X-Linked Deafness 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Neuropathy(ID:disease_node_13534) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)