PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Glycogen Storage Disease

Synonyms
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://www.phoc.org.cn/pmo/class/PMO_00036659

Database_Cross_Reference

CHV:0000005607

CSP:4000-0193

MDR:10018465

AOD:0000005716

NCI_NICHD:C61272

RCD:C310.

ICD10AM:E74.0

ICD10CM:E74.0

SNM:D-1251

RCD:C310z

SNOMEDCT_US:190744005

SNOMEDCT_US:29633007

MDR:10061990

MEDCIN:33548

SNOMEDCT_US:154738008

ICD10CM:E74.00

SNMI:D6-50200

MTHICD9:271.0

NCI:C61272

MDR:10018463

ICD10:E74.0

NDFRT:N0000001361

SNOMEDCT_US:267498002

LCH_NW:sh85055399

DO:DOID:2747

MDR:10018466

ICD9CM:271.0

MSH:D006008

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.

label

Glycogen Storage Disease

MCID

MC00005742

PMOID

PMO:00036659

prefixIRI

pmo:PMO_00036659

prefLabel

Glycogen Storage Disease

Synonym

Disease, Glycogen Storage

diseases glycogen storage

glycogenosis

Glycogenoses

Glycogen storage disease

disease glycogen storage

Glycogen Storage Diseases

Storage Disease, Glycogen

Glycogenosis NOS (disorder)

Glycogen Storage Disease [Disease/Finding]

glycogenoses

Glycogen storage disease, NOS

Diseases, Glycogen Storage

Glycogen storage disorder NOS

glycogen storage disease (diagnosis)

glycogen storage diseases

Glycogen storage disorder

Glycogen storage disease, unspecified

glycogen storage disease

Glycogenosis NOS

glycogen storage disorder

Storage Diseases, Glycogen

disorders glycogen storage

GSD - Glycogen storage disease

Glycogen storage disease (disorder)

GLYCOGEN STORAGE DIS

Glycogenosis

Glycogenosis, NOS

Tree Number

T9.11.1.12.15.8

T9.8.4.14.15.8

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00036652

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Delete Mapping To Ontology Source
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 HHEAR 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://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