| Metadata | |
|---|---|
| ID | DOID:0110210 |
| Name | Charcot-Marie-Tooth disease X-linked recessive 5 |
| Definition | A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. https://www.ncbi.nlm.nih.gov/pubmed/15955956 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Charcot-Marie-Tooth neuropathy X-linked recessive 5 [EXACT] CMT5X [EXACT] CMTX5 [EXACT] optic atrophy, polyneuropathy, and deafness [EXACT] Rosenberg-Chutorian syndrome [EXACT] X-linked Charcot-Marie-Tooth disease type 5 [EXACT] |
| Parent Relationships |