Search Ontology:
Human Disease

nemaline myopathy 5B

Term ID
DOID:0081374
Synonyms
Definition
A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. https://pubmed.ncbi.nlm.nih.gov/35165004/
References
Ontology
Human Disease   ( DOID:0081374 )
Relationships
is a type of
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Genes Involved
Zebrafish Models