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DO Term : nemaline myopathy 3 [DOID:0110927] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.

synonyms:
OMIM:161800,
congenital myopathy 2A,
nemaline myopathy 3, autosomal dominant or recessive,
161800,
NEM3

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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