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DO Term : Charcot-Marie-Tooth disease recessive intermediate C [DOID:0110198] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.
  • synonyms:
  • OMIM:615376,
  • autosomal recessive intermediate Charcot-Marie-Tooth disease type C,
  • ORDO:369867,
  • RI-CMT type C,
  • 615376,
  • CMTRIC,
  • RI-CMTC,
  • ICD10CM:G60.0
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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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