Human Disease Ontology

Last uploaded: May 1, 2024
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Preferred Name

GM2 gangliosidosis
Synonyms

gangliosidosis GM2
Definitions

A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes.
ID

http://purl.obolibrary.org/obo/DOID_3321
database_cross_reference

SNOMEDCT_US_2023_03_01:33316007

ICD10CM:E75.0

MESH:D020143

UMLS_CUI:C0268274
definition

A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes.
has exact synonym

gangliosidosis GM2
has_obo_namespace

disease_ontology
id

DOID:3321
label

GM2 gangliosidosis
notation

DOID:3321
prefLabel

GM2 gangliosidosis
subClassOf

http://purl.obolibrary.org/obo/DOID_2368
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http://purl.obolibrary.org/obo/DOID_3321 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_3321 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_3321 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_3321 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_3321 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0017720 MONDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268274 OCHV LOOM
http://nanbyodata.jp/ontology/NANDO_2200559 NANDO LOOM
http://purl.bioontology.org/ontology/RCD/X40Uw RCD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C197908 NCIT LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_6_11 HAMIDEHSGH LOOM
http://nanbyodata.jp/ontology/NANDO_1200070 NANDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.0 ICD10CM LOOM
http://purl.bioontology.org/ontology/ICD10/E75.0 ICD10 LOOM
http://www.orpha.net/ORDO/Orphanet_309152 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_21352 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0017720 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0017720 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0017720 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_3321 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3321 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3321 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3321 FNS-H LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/33316007 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10083933 MEDDRA LOOM
http://www.gamuts.net/entity#GM2_gangliosidosis GAMUTS LOOM