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Metadata
ID DOID:0110936
Name nemaline myopathy 5A
Definition A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset.
https://www.ncbi.nlm.nih.gov/pubmed/10952871
Xrefs

GARD:8334

MESH:C538397

OMIM:605355

ORDO:98902

Subsets

DO_rare_slim

Synonyms

Amish nemaline myopathy [EXACT]

ANM [EXACT]

NEM5 [EXACT]

nemaline myopathy 5, Amish type [EXACT]

Parent Relationships

is_a nemaline myopathy

is_a autosomal recessive disease

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