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DO Term : Charcot-Marie-Tooth disease type 4D [DOID:0110186] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24.

synonyms:
HMSN-Lom,
OMIM:601455,
ICD10CM:G60.0,
HMSNL,
CMT4D,
HMSN Lom type,
601455,
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D,
hereditary motor and sensory neuropathy LOM type,
Charcot-Marie-Tooth neuropathy type 4D,
HMSN4D,
ORDO:99950

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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