Terminology Service for NFDI4Health
Sphingolipidosis
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http://purl.obolibrary.org/obo/NCIT_C117254
An inherited metabolic disorder that affects the metabolism of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. [ ]
Term info
Label
Sphingolipidosis
Synonyms
- Sphingolipidosis
Subsets
NCIT_C99147, NCIT_C90259, NCIT_C118168, NCIT_C116977
Contributing Source
CTRP, NICHD
Display Name
Sphingolipidosis
Has NICHD Parent
http://purl.obolibrary.org/obo/NCIT_C3235
NICHD Hierarchy Term
Sphingolipidosis
Preferred Name
Sphingolipidosis
Semantic Type
Disease or Syndrome
UMLS CUI
C0037899
code
C117254