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DO Term : Charcot-Marie-Tooth disease type 1D [DOID:0110150] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2).

synonyms:
CMT1D,
hereditary motor and sensory neuropathy 1D,
OMIM:607678,
HMSN1D,
MESH:C537985,
HMSN ID,
Charcot-Marie-Tooth neuropathy type 1D,
ICD10CM:G60.0,
ORDO:101084,
607678

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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