loading...| Preferred Name | gangliosidosis | |
| Synonyms | ||
| Definitions |
A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0017719 |
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| database_cross_reference |
UMLS:C0017083 MEDGEN:42149 DOID:2368 Orphanet:309144 SCTID:50967008 GARD:12510 icd11.foundation:797306953 |
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| definition |
A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. |
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| id |
MONDO:0017719 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
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| label |
gangliosidosis |
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| notation |
MONDO:0017719 |
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| prefLabel |
gangliosidosis |
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| skos_exactMatch |
http://identifiers.org/medgen/42149 http://identifiers.org/snomedct/50967008 http://linkedlifedata.com/resource/umls/id/C0017083 http://purl.obolibrary.org/obo/DOID_2368 http://purl.obolibrary.org/obo/Orphanet_309144 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/797306953 |
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| treeView | ||
| subClassOf |