About: congenital disorder of glycosylation Icc

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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 X-linked recessive disease nodeID://b50945574 nodeID://b50945575
label	congenital disorder of glycosylation Icc
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111839
database_cross_reference	OMIM:301031
has_exact_synonym	congenital disorder of glycosylation type Icc
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in MAGT1 on chromosome Xq21.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945576

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