X-Linked Deafness 7
Disease ID: disease_node_14958
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| Dbxref | MIM:301018, ORDO:500188 |
|---|---|
| Subclassof | DOID_0050566 |
| Data Source | DOID |
| Synonyms | DFNX7, X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome |
| Doid Label | X-linked deafness 7 |
| Doid Description | An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1. |
| Disease Node Id | disease_node_14958 |
| Doid Id | DOID_0111738 |
| Label | X-Linked Deafness 7 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Nonsyndromic Deafness(ID:disease_node_14955) (Disease)