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DO Term : Charcot-Marie-Tooth disease X-linked recessive 5 [DOID:0110210] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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,
ORDO:99014,
optic atrophy, polyneuropathy, and deafness,
CMT5X,
ICD10CM:G60.0,
Rosenberg-Chutorian syndrome,
X-linked Charcot-Marie-Tooth disease type 5,
CMTX5,
OMIM:311070,
311070

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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