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DOID:0110926 - nemaline myopathy 1
Disease Ontology Definition:A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21.
Synonyms: congenital myopathy 4B, NEM1, nemaline myopathy 1, autosomal dominant or recessive
Xenbase Genes
:
tpm3
| MONDO:0012239 - urinary bladder vasculature |
| MIM:609284 - CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE; CMYO4B |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
autosomal recessive disease (is_a),
nemaline myopathy (is_a)