Search Ontology:
Human Disease
nemaline myopathy 3
- Term ID
- DOID:0110927
- Synonyms
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- congenital myopathy 2A
- NEM3
- nemaline myopathy 3, autosomal dominant or recessive
- Definition
- A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. (2)
- References
- Ontology
- Human Disease ( DOID:0110927 )
- is a type of
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- inverse disjoint_from
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