Cell Cycle Ontology

Last uploaded: June 26, 2014

Preferred Name	Lipoprotein lipase deficiency
Synonyms
Definitions	(LPL deficiency): Recessive disorder usually manifesting in childhood. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis.
ID	http://purl.obolibrary.org/obo/OMIM_238600
definition	(LPL deficiency): Recessive disorder usually manifesting in childhood. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis.
has_obo_namespace	cell_cycle_ontology
id	OMIM:238600
label	Lipoprotein lipase deficiency
notation	OMIM:238600
prefLabel	Lipoprotein lipase deficiency
treeView	http://purl.obolibrary.org/obo/OGMS_0000031
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MEDDRA/10084113	MEDDRA	LOOM
http://identifiers.org/omim/238600	REXO	LOOM
http://identifiers.org/omim/238600	GEXO	LOOM
http://identifiers.org/omim/238600	RETO	LOOM
http://purl.obolibrary.org/obo/DERMO_0000548	DERMO	LOOM