X-Linked Retinitis Pigmentosa And Sinorespiratory Infections
Disease ID: disease_node_13361
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| Dbxref | MIM:300455, ORDO:247522 |
|---|---|
| Subclassof | DOID_225, DOID_0050735 |
| Data Source | DOID |
| Synonyms | primary ciliary dyskinesia-retinitis pigmentosa syndrome |
| Doid Label | X-linked retinitis pigmentosa and sinorespiratory infections |
| Doid Description | A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4. |
| Has Material Basis In | GENO_0000936 |
| Disease Node Id | disease_node_13361 |
| Doid Id | DOID_0112124 |
| Label | X-Linked Retinitis Pigmentosa And Sinorespiratory Infections |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Monogenic Disease(ID:disease_node_13360) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)