congenital myasthenic syndrome 10

Summary

DOID:0110668 - congenital myasthenic syndrome 10

Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3.

Synonyms: CMS10, CMS1B, CMS Ib, congenital muscular dystrophy merosin-positive, congenital myasthenic syndrome type Ib, familial limb-girdle myasthenia, LGM

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dok7

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009690 - congenital myasthenic syndrome 10

MONDO:0009690 - congenital myasthenic syndrome 10

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital myasthenic syndrome (is_a)