Search Ontology:
Human Disease

Charcot-Marie-Tooth disease X-linked recessive 5

Term ID
DOID:0110210
Synonyms
  • 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
Ontology
Human Disease   ( DOID:0110210 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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