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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
sphingolipidosis +     
Fabry disease +   
Farber lipogranulomatosis  
gangliosidosis +   
Gaucher's disease +   
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. (DO)
Krabbe disease +   
metachromatic leukodystrophy +   
mucosulfatidosis  
Niemann-Pick disease +   
sea-blue histiocytosis  
Sulfatidosis +   

Synonyms
Exact Synonyms: Chronic Gaucher Disease ;   GBA Deficiency ;   GBA deficiencies ;   Gaucher Splenomegaly ;   Gaucher Syndrome ;   Gaucher disease ;   Gauchers Disease ;   Glucocerebrosidase Deficiencies ;   Glucocerebrosidase Deficiency ;   Glucocerebrosidase Deficiency Disease ;   Glucocerebrosidase Deficiency Diseases ;   Glucocerebrosidoses ;   Glucocerebrosidosis ;   Glucosyl Cerebroside Lipidoses ;   Glucosyl Cerebroside Lipidosis ;   Glucosylceramidase Deficiency ;   Glucosylceramide Beta-Glucosidase Deficiency ;   Glucosylceramide Beta-Glucosidase Deficiency Disease ;   Glucosylceramide Lipidoses ;   Glucosylceramide Lipidosis ;   Infantile Gaucher Disease ;   Kerasin Histiocytoses ;   Kerasin Histiocytosis ;   Kerasin Lipoidoses ;   acid beta-glucosidase deficiency ;   acid beta-glucosidase deficiency disease ;   cerebroside lipidosis syndrome ;   cerebroside lipidosis syndromes ;   glocucerebrosidase deficiency ;   kerasin lipoidosis ;   kerasin thesaurismoses ;   kerasin thesaurismosis ;   lipoid histiocytoses (kerasin type) ;   lipoid histiocytosis ;   lipoid histiocytosis (kerasin type) ;   neuronopathic Gaucher disease
Narrow Synonyms: GAUCHER DISEASE, NORRBOTTNIAN TYPE ;   GAUCHER DISEASE, TYPE IIIB
Primary IDs: MESH:D005776
Xrefs: EFO:0004721 ;   GARD:8233 ;   ICD10CM:E75.22 ;   MONDO:0018150 ;   NCI:C61268 ;   ORDO:355
Definition Sources: http://en.wikipedia.org/wiki/Gaucher%27s_disease "DO" "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract "DO" "DO"

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