loading...| Preferred Name | GM2 gangliosidosis | |
| Synonyms |
GM2-gangliosidosis, B, B1, AB variant GM>2< gangliosidosis gangliosidosis 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.obolibrary.org/obo/MONDO_0017720 |
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| database_cross_reference |
SCTID:33316007 GARD:21323 Orphanet:309152 MESH:D020143 UMLS:C0268274 ICD10CM:E75.0 DOID:3321 |
|
| 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. |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0268274 http://identifiers.org/mesh/D020143 http://purl.bioontology.org/ontology/ICD10CM/E75.0 http://identifiers.org/snomedct/33316007 |
|
| has_exact_synonym |
GM>2< gangliosidosis gangliosidosis GM2 |
|
| has_related_synonym |
GM2-gangliosidosis, B, B1, AB variant |
|
| id |
MONDO:0017720 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
GM2 gangliosidosis |
|
| notation |
MONDO:0017720 |
|
| prefLabel |
GM2 gangliosidosis |
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| treeView | ||
| subClassOf |