Charcot-Marie-Tooth Disease X-Linked Recessive 5
Disease ID: disease_node_18824
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G60.0, MIM:311070, ORDO:99014 |
|---|---|
| Subclassof | DOID_0050542, DOID_0080012 |
| Data Source | DOID |
| Synonyms | CMT5X, CMTX5, Charcot-Marie-Tooth neuropathy X-linked recessive 5, Rosenberg-Chutorian syndrome, X-linked Charcot-Marie-Tooth disease type 5, optic atrophy, polyneuropathy, and deafness |
| Doid Label | Charcot-Marie-Tooth disease X-linked recessive 5 |
| Doid Description | A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_18824 |
| Doid Id | DOID_0110210 |
| Label | Charcot-Marie-Tooth Disease X-Linked Recessive 5 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Charcot-Marie-Tooth Disease Type X(ID:disease_node_18822) (Disease)