Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Gangliosidoses, GM2

Synonyms

Gangliosidoses GM2

Gangliosidose, GM2

Definitions

A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.

ID

http://purl.bioontology.org/ontology/MESH/D020143

altLabel

Gangliosidoses GM2

GM2 Gangliosidosis

GM2 Gangliosidoses

GM2, Gangliosidoses

G(M2) Gangliosidoses

GM2 Gangliosidose

Gangliosidosis, GM2

Gangliosidose, GM2

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C0268274

DC

1

definition

A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.

DX

20000101

FX

D001619

HN

2007 (2000)

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401

Inverse of RO

http://purl.bioontology.org/ontology/MESH/D001619

Machine permutation

2007; see GANGLIOSIDOSES GM2 2000-2006

MDA

19991108

MMR

20210701

MN

C16.320.565.595.554.825.300.300

C18.452.648.189.435.825.300.300

C16.320.565.189.435.825.300.300

C18.452.648.595.554.825.300.300

C16.320.565.398.641.803.350.300

C10.228.140.163.100.435.825.300.300

C18.452.132.100.435.825.300.300

C18.452.584.563.641.803.350.300

C18.452.648.398.641.803.350.300

notation

D020143

prefLabel

Gangliosidoses, GM2

TERMUI

T358040

T368291

T368285

T647014

TH

NLM (2000)

NLM (2007)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D005733

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http://purl.bioontology.org/ontology/MDRGER/10083933 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D6-76100 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X40Uw RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D020143 MSHFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004000 NDFRT CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.0 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.00 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10083933 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10/E75.0 ICD10 CUI
http://purl.bioontology.org/ontology/SNOMEDCT/33316007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/33316007 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10083933 MEDDRA CUI
http://purl.obolibrary.org/obo/OMIT_0020067 OMIT LOOM
http://purl.jp/bio/4/id/200906019563045638 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.554.825.300.300 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D020143 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D020143 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.687.803.350.300 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.641.803.350.300 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.435.825.300.300 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.554.825.300.300 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.641.803.350.300 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.435.825.300.300 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038559 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.435.825.300.300 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_3321 CLO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.435.825.300.300 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#26285 OCHV LOOM