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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,
Echinobase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
MIM:602541 - muscular dystrophy, congenital, megaconial type; mdcmc |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
congenital muscular dystrophy (is_a)