Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
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Preferred Name

glycogen storage disease
Synonyms

glycogenosis

glycogenoses
Definitions

A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
ID

http://purl.obolibrary.org/obo/DOID_2747
database_cross_reference

ICD9CM:271.0

MESH:D006008

SNOMEDCT_US_2023_03_01:267498002

UMLS_CUI:C0017919

ICD10CM:E74.0

NCI:C61272
has exact synonym

glycogenosis
has narrow synonym

glycogenoses
has_obo_namespace

disease_ontology
id

DOID:2747
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus
label

glycogen storage disease
notation

DOID:2747
prefLabel

glycogen storage disease
textual definition

A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
subClassOf

http://purl.obolibrary.org/obo/DOID_0050728
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2747 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_2747 GAMUTS SAME_URI
http://purl.obolibrary.org/obo/DOID_2747 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_2747 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_2747 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_2747 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_2747 FNS-H SAME_URI
http://purl.obolibrary.org/obo/OMIT_0007197 OMIT LOOM
http://bmi.utah.edu/ontologies/hfontology/C0017919 HFO LOOM
http://purl.bioontology.org/ontology/ICD10/E74.0 ICD10 LOOM
http://purl.obolibrary.org/obo/DOID_2747 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2747 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2747 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2747 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2747 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2747 FNS-H LOOM
http://purl.bioontology.org/ontology/MESH/D006008 MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036659 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006008 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11227 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.202.449 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0002412 KTAO LOOM
http://www.gamuts.net/entity#glycogen_storage_disease GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Glycogen_Storage_Disease CSEO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0017919 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.202.449 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_79201 ORDO LOOM
http://purl.obolibrary.org/obo/NCIT_C61272 BERO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#5607 OCHV LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2747 NATPRO LOOM
http://purl.bioontology.org/ontology/ICD10CM/E74.0 ICD10CM LOOM
http://purl.bioontology.org/ontology/CSP/4000-0193 CRISP LOOM
http://purl.bioontology.org/ontology/RCD/C310. RCD LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/29633007 SNOMEDCT LOOM
http://pat.nichd.nih.gov/maternalconditions/C0017919 PATMHC LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Glycogen_Storage_Disease PEDTERM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61272 NCIT LOOM
http://id.nlm.nih.gov/mesh/D006008 MDM LOOM