About: congenital disorder of glycosylation type IIm

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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 II X-linked dominant disease nodeID://b50940031 nodeID://b50940032
label	congenital disorder of glycosylation type IIm
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0070265
has_alternative_id	DOID:0080469
database_cross_reference	GARD:12403 OMIM:300896 ORDO:356961
has_exact_synonym	Congenital disorder of glycosylation type 2m (en) SLC35A2-CDG (en) congenital disorder of glycosylation type 2m (en) developmental and epileptic encephalopathy 22 epileptic encephalopathy, early infantile, 22 (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940033

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