megaconial type congenital muscular dystrophy

Summary

DOID:0110632 - megaconial type congenital muscular dystrophy

Disease Ontology Definition:A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13.

Synonyms: congenital megaconial myopathy, congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect, congenital muscular dystrophy with mitochondrial structural abnormalities, megaconial congenital muscular dystrophy,

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

: chkb

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011246 - megaconial type congenital muscular dystrophy

MONDO:0011246 - megaconial type congenital muscular dystrophy

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

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

Parent(s): autosomal recessive disease (is_a), congenital muscular dystrophy (is_a)