Preferred Name | sphingolipidosis | |
Synonyms |
sphingolipidoses |
|
Definitions |
A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. |
|
ID |
http://purl.obolibrary.org/obo/DOID_1927 |
|
database_cross_reference |
ICD10CM:E75.3 MESH:D013106 SNOMEDCT_US_2023_03_01:58459009 NCI:C117254 UMLS_CUI:C0037899 GARD:7672 |
|
definition |
A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. |
|
has exact synonym |
sphingolipidoses |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:1927 |
|
in_subset | ||
label |
sphingolipidosis |
|
notation |
DOID:1927 |
|
prefLabel |
sphingolipidosis |
|
subClassOf |
Create mapping