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DO Term : nemaline myopathy 2 [DOID:0110928] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.

synonyms:
OMIM:256030,
NEM2,
congenital myopathy 2,
nemaline myopathy 2, autosomal recessive,
MESH:C538349,
256030

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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