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Namespace Prefixes

Prefix	IRI
n8	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
n4	http://purl.obolibrary.org/obo/doid#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

n2:DOID_2750

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_2747

rdfs:label

glycogen storage disease IV

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n8:doid.owl

obo:id

DOID:2750

obo:hasDbXref

NCI:C84737 ICD10CM:E74.09 OMIM:232500 MESH:D006011 UMLS_CUI:C0017923 SNOMEDCT_US_2021_09_01:11179002 GARD:2520

obo:hasExactSynonym

Amylopectinosis deficiency of 1,4-alpha-glucan branching enzyme brancher deficiency glycogenosis Branching-transferase deficiency glycogenosis Glycogen storage disease, type IV

obo:hasOBONamespace

disease_ontology

obo:inSubset

n4:NCIthesaurus

n2:IAO_0000115

A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12.