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Ontology Browser

Term:
lysosomal and lipase deficiency (DOID:0080217)
Annotations: Rat: (6) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (1) Pig: (2)
Parent Terms Term With Siblings Child Terms
Cephalin Lipidosis 
Familial Cardiac Lipidosis 
Farber lipogranulomatosis  
fatty liver disease +   
lysosomal and lipase deficiency +   
A lipid storage disease characterized by lysosomal and lipase deficiency. (DO)
mucolipidosis +   
neuronal ceroid lipofuscinosis +   
Neurovisceral Storage Disease with Curvilinear Bodies 
neutral lipid storage disease +   
Phospholipidosis  
Siddiqi syndrome  
Sjogren-Larsson syndrome +   
sphingolipidosis +   
Tremor of Intention, Ataxia, and Lipofuscinosis 
xanthomatosis +   

Synonyms
Exact Synonyms: CESD ;   LAL deficiency ;   LIPA deficiency ;   acid cholesteryl ester hydrolase deficiency, type 2 ;   acid lipase disease ;   cholesterol ester hydrolase deficiency ;   lysosomal acid lipase deficiency
Primary IDs: MESH:C531854
Alternate IDs: OMIM:278000
Definition Sources: https://omim.org/entry/278000 "DO" "DO", https://rarediseases.info.nih.gov/diseases/12097/lysosomal-acid-lipase-deficiency "DO" "DO"

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