FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

Gaucher's disease

Synonyms
Definitions

A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.

ID

http://purl.obolibrary.org/obo/DOID_1926

definition

A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

Gaucher's disease

prefixIRI

DOID:1926

prefLabel

Gaucher's disease

subClassOf

http://purl.obolibrary.org/obo/DOID_1927

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