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DO Term : Charcot-Marie-Tooth disease type 2B1 [DOID:0110156] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.

synonyms:
Charcot-Marie-Tooth disease neuronal type 2B1,
autosomal recessive axonal CMT4C1,
605588,
CMT2B1,
ICD10CM:G60.0,
OMIM:605588,
autosomal recessive Charcot-Marie-Tooth disease type 2B1,
ORDO:98856,
Charcot-Marie-Tooth neuropathy type 2B1,
MESH:C537990,
autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1

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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