loading...| Preferred Name | GM2 gangliosidosis | |
| Synonyms |
GM2-gangliosidosis, B, B1, AB variant gangliosidosis GM2 GM>2< gangliosidosis |
|
| 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 |
|
| database_cross_reference |
UMLS:C0268274 Orphanet:309152 ICD10CM:E75.0 MEDGEN:78656 NANDO:2200559 SCTID:33316007 icd11.foundation:1513691830 MESH:D020143 NANDO:1200070 DOID:3321 GARD:21323 |
|
| 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. |
|
| has_exact_synonym |
gangliosidosis GM2 GM>2< gangliosidosis |
|
| has_related_synonym |
GM2-gangliosidosis, B, B1, AB variant |
|
| id |
MONDO:0017720 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
GM2 gangliosidosis |
|
| notation |
MONDO:0017720 |
|
| preferred label |
GM2 gangliosidosis |
|
| prefLabel |
GM2 gangliosidosis |
|
| skos_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 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1513691830 http://purl.obolibrary.org/obo/DOID_3321 |
|
| subClassOf |