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. [ Orphanet:309152 ]
Synonyms: GM>2< gangliosidosis gangliosidosis GM2
Term information
- UMLS:C0268274 (Orphanet:309152/e)
- DOID:3321 (MONDO:equivalentTo)
- MESH:D020143 (MONDO:equivalentTo)
- SCTID:33316007 (MONDO:equivalentTo)
- Orphanet:309152 (MONDO:equivalentTo)
- GARD:21323 (Orphanet:309152)
- ICD10CM:E75.0 (Orphanet:309152/specific)
gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, ordo_group_of_disorders
http://purl.bioontology.org/ontology/ICD10CM/E75.0
http://purl.obolibrary.org/obo/DOID_3321
http://identifiers.org/mesh/D020143
http://www.orpha.net/ORDO/Orphanet_309152
http://linkedlifedata.com/resource/umls/id/C0268274
http://identifiers.org/snomedct/33316007