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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:0001270 | Motor delay |
| HP:0000510 | Rod-cone dystrophy |
| HP:0003481 | Segmental peripheral demyelination/remyelination |
| HP:0002522 | Areflexia of lower limbs |
| HP:0001271 | Polyneuropathy |
| HP:0003693 | Distal amyotrophy |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0001419 | X-linked recessive inheritance |
| HP:0003828 | Variable expressivity |
| HP:0003383 | Onion bulb formation |
