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DO Term : Charcot-Marie-Tooth disease type 4K [DOID:0110187] 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 SURF1 gene on chromosome 9q34.

synonyms:
SURF1-related CMT4,
SURF1-related severe demyelinating Charcot-Marie-Tooth disease,
616684,
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K,
SURF1-related Charcot-Marie-Tooth disease type 4,
ICD10CM:G60.0,
CMT4K,
OMIM:616684,
autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K,
ORDO:391351

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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