An inherited metabolic disorder that affects the metabolism of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. [ NCI ]

Synonyms: Sphingolipidosis

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Term information

Subsets

NCIT_C90259, NCIT_C99147, NCIT_C118168, NCIT_C116977

Contributing Source

CTRP

NICHD

Display Name

Sphingolipidosis

NICHD Hierarchy Term

Sphingolipidosis

Preferred Name

Sphingolipidosis

Semantic Type

Disease or Syndrome

UMLS CUI

C0037899

code

C117254

Term relations