ZFIN Human Disease: megaconial type congenital muscular dystrophy

OBO ID: DOID:0110632

Term Name:	megaconial type congenital muscular dystrophy		Search Ontology:
Synonyms:	congenital megaconial myopathy congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect congenital muscular dystrophy with mitochondrial structural abnormalities megaconial congenital muscular dystrophy
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. (2)
References:	ICD10CM:G71.2 OMIM:602541 ORDO:280671
Ontology:	Human Disease ( DOID:0110632 )

Relationships

is a type of:	autosomal recessive disease congenital muscular dystrophy autosomal recessive disease congenital muscular dystrophy Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CHKB	chkb	Muscular dystrophy, congenital, megaconial type	602541

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None