About: congenital disorder of glycosylation Ih

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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://b50941160 nodeID://b50941161 nodeID://b50941162 nodeID://b50941163 nodeID://b50941164 nodeID://b50941165 nodeID://b50941166 nodeID://b50941167 nodeID://b50941168 nodeID://b50941169 nodeID://b50941170
label	congenital disorder of glycosylation Ih
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080560
database_cross_reference	GARD:9834 OMIM:608104 ORDO:79325
has_exact_synonym	congenital disorder of glycosylation 1h (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50941171

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