loading...| Preferred Name |
sphingolipidosis |
|
| Synonyms |
sphingolipidoses sphingolipidosis, NOS |
|
| 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 |
Orphanet:79225 ICD10:E75.1 ICD10:E75.0 SCTID:238028008 DOID:1927 MESH:D013106 ICD10:E75.2 NCIT:C117254 UMLS:C0037899 ICD10:E75.3 GARD:0007672 |
|
| disease has basis in disruption of | ||
| exactMatch |
http://www.orpha.net/ORDO/Orphanet_79225 http://identifiers.org/snomedct/238028008 http://linkedlifedata.com/resource/umls/id/C0037899 http://identifiers.org/mesh/D013106 |
|
| has exact synonym |
sphingolipidoses |
|
| has related synonym |
sphingolipidosis, NOS |
|
| id |
MONDO:0019255 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
sphingolipidosis |
|
| notation |
MONDO:0019255 |
|
| prefLabel |
sphingolipidosis |
|
| see also |
https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis |
|
| textual 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. |
|
| subClassOf |