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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
adult xanthogranuloma 
Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d  
Erdheim-Chester disease 
Fabry disease +   
familial hyperlipidemia +   
Farber lipogranulomatosis  
gangliosidosis +   
Gaucher's disease +   
hemophagocytic lymphohistiocytosis +   
Hooft Disease 
Hypocholesterolemia  
hypolipoproteinemia +   
juvenile xanthogranuloma 
Krabbe disease +   
metachromatic leukodystrophy +   
mucosulfatidosis  
multicentric reticulohistiocytosis 
Niemann-Pick disease +   
reticulohistiocytic granuloma 
sea-blue histiocytosis  
A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids. (DO)
Sinus Histiocytosis +   
Smith-Lemli-Opitz syndrome +   
Sulfatidosis +   

Synonyms
Exact Synonyms: sea-blue histiocyte disease ;   sea-blue histiocyte diseases ;   sea-blue histiocyte syndrome ;   sea-blue histiocyte syndromes ;   sea-blue histiocytoses
Related Synonyms: APOE2 Isoforms
Primary IDs: MESH:D012618
Alternate IDs: MIM:269600
Xrefs: EFO:1001170 ;   NCI:C85062 ;   ORDO:158029
Definition Sources: https://en.wikipedia.org/wiki/Sea-blue_histiocytosis "DO" "DO", https://rarediseases.info.nih.gov/diseases/8241/sea-blue-histiocytosis "DO" "DO"

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