loading...| Preferred Name | sphingolipidosis | |
| Synonyms |
sphingolipidoses |
|
| Definitions |
An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019255 |
|
| database_cross_reference |
MEDGEN:52453 UMLS:C0037899 MESH:D013106 SCTID:238028008 NCIT:C117254 Orphanet:79225 icd11.foundation:1875237176 DOID:1927 GARD:7672 |
|
| definition |
An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. |
|
| exactMatch |
http://identifiers.org/snomedct/238028008 http://linkedlifedata.com/resource/umls/id/C0037899 http://identifiers.org/medgen/52453 http://identifiers.org/mesh/D013106 http://purl.obolibrary.org/obo/NCIT_C117254 http://purl.obolibrary.org/obo/DOID_1927 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1875237176 |
|
| has_exact_synonym |
sphingolipidoses |
|
| id |
MONDO:0019255 |
|
| 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 |
sphingolipidosis |
|
| notation |
MONDO:0019255 |
|
| preferred label |
sphingolipidosis |
|
| prefLabel |
sphingolipidosis |
|
| see also |
https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis |
|
| subClassOf |