About: congenital disorder of glycosylation Ip

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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://b50941191 nodeID://b50941192 nodeID://b50941193 nodeID://b50941194
label	congenital disorder of glycosylation Ip
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080567
database_cross_reference	GARD:12396 OMIM:613661 ORDO:280071
has_exact_synonym	congenital disorder of glycosylation 1p (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50941195

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