X-Linked Deafness 1
Disease ID: disease_node_14957
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| Dbxref | MIM:304500 |
|---|---|
| Subclassof | DOID_0050566 |
| Data Source | DOID |
| Synonyms | DFN2, DFNX1, X-linked sensorineural congenital deafness 2 |
| Doid Label | X-linked deafness 1 |
| Doid Description | An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3. |
| Disease Node Id | disease_node_14957 |
| Doid Id | DOID_0111739 |
| Label | X-Linked Deafness 1 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Nonsyndromic Deafness(ID:disease_node_14955) (Disease)