About: congenital disorder of glycosylation Ik

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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 disorder of glycosylation type I autosomal recessive disease nodeID://b50941178 nodeID://b50941179
label	congenital disorder of glycosylation Ik
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080563
database_cross_reference	GARD:9838 OMIM:608540 ORDO:79327
has_exact_synonym	congenital disorder of glycosylation 1k (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50941180

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