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DO Term : Charcot-Marie-Tooth disease type 4C [DOID:0110183] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene.
  • synonyms:
  • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C,
  • ORDO:99949,
  • Charcot-Marie-Tooth neuropathy type 4C,
  • 601596,
  • OMIM:601596,
  • CMT4C,
  • 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