About: megaconial type congenital muscular dystrophy

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	congenital muscular dystrophy autosomal recessive disease nodeID://b50943328 nodeID://b50943329
label	megaconial type congenital muscular dystrophy
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110632
database_cross_reference	ICD10CM:G71.2 OMIM:602541 ORDO:280671
has_exact_synonym	congenital megaconial myopathy (en) megaconial congenital muscular dystrophy (en) congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect (en) congenital muscular dystrophy with mitochondrial structural abnormalities (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50943330

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