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DOID:0081374 - nemaline myopathy 5B
Disease Ontology 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.
Synonyms:
Xenbase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee