Charcot-Marie-Tooth disease X-linked recessive 5

Summary

DOID:0110210 - Charcot-Marie-Tooth disease X-linked recessive 5

Disease Ontology Definition:A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: prps1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010699 - Charcot-Marie-Tooth disease X-linked recessive 5

MONDO:0010699 - Charcot-Marie-Tooth disease X-linked recessive 5

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Charcot-Marie-Tooth disease type X (is_a)