Search Ontology:
Human Disease
Charcot-Marie-Tooth disease X-linked recessive 5
- Term ID
- DOID:0110210
- Synonyms
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- Charcot-Marie-Tooth neuropathy X-linked recessive 5
- CMT5X
- CMTX5
- optic atrophy, polyneuropathy, and deafness
- Rosenberg-Chutorian syndrome
- X-linked Charcot-Marie-Tooth disease type 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
- References
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- ICD10CM:G60.0
- MIM:311070
- ORDO:99014
- Ontology
- Human Disease ( DOID:0110210 )
- is a type of
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Genes Involved
Zebrafish Models