Regulation of Transcription Ontology

Last uploaded: December 4, 2018

Preferred Name	Lipoprotein lipase deficiency
Synonyms	LPL deficiency
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://identifiers.org/omim/238600
altLabel	LPL deficiency
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.
id	OMIM:238600
notation	OMIM:238600
prefLabel	Lipoprotein lipase deficiency
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

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Mapping To	Ontology	Source
http://identifiers.org/omim/238600	REXO	SAME_URI
http://identifiers.org/omim/238600	GEXO	SAME_URI
http://purl.obolibrary.org/obo/OMIM_238600	CCO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10084113	MEDDRA	LOOM
http://identifiers.org/omim/238600	REXO	LOOM
http://identifiers.org/omim/238600	GEXO	LOOM
http://purl.obolibrary.org/obo/DERMO_0000548	DERMO	LOOM