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Charcot-Marie-Tooth disease X-linked recessive 5
Summary
- Synonym
-
- 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
- Definition
- A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22.
- Super Class
- Charcot-Marie-Tooth disease type X X-linked recessive disease
External Links
- Disease Ontology
- DOID:0110210
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001761 | Pes cavus |
| HP:0000763 | Sensory neuropathy |
| HP:0002808 | Kyphosis |
| HP:0001288 | Gait disturbance |
| HP:0007328 | Impaired pain sensation |
| HP:0001337 | Tremor |
| HP:0001260 | Dysarthria |
| HP:0002463 | Language impairment |
| HP:0002936 | Distal sensory impairment |
| HP:0011463 | Childhood onset |
