High Myopia-Sensorineural Deafness Syndrome
Disease ID: disease_node_20240
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| Dbxref | GARD:12844, MIM:221200, ORDO:363396 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | DFNMYP, deafness and myopia, deafness and myopia syndrome |
| Doid Label | high myopia-sensorineural deafness syndrome |
| Doid Description | A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20240 |
| Doid Id | DOID_0111628 |
| Label | High Myopia-Sensorineural Deafness Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)