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DOID:0110669 - congenital myasthenic syndrome 14
Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22.
Synonyms: CMS14, CMSTA3, congenital myasthenic syndrome 14, with tubular aggregates, congenital myasthenic syndrome with tubular aggregates 3,
Xenbase Genes
:
alg2
| MONDO:0014543 - congenital myasthenic syndrome 14 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
congenital myasthenic syndrome (is_a)