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

• ICD10CM:G60.0
• OMIM:311070
• ORDO:99014

Ontology

Human Disease   ( DOID:0110210 )