Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2
Synonyms	LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE-BETA AGPAT2 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 LPAAT-BETA
ID	http://purl.bioontology.org/ontology/OMIM/603100
altLabel	LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE-BETA AGPAT2 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 LPAAT-BETA
cui	C1412282 C1720862
Gene Locus	9q34.3
Gene Symbol	BSCL1 AGPAT2 LPAAB BSCL
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/603100.0005 http://purl.bioontology.org/ontology/OMIM/603100.0001 http://purl.bioontology.org/ontology/OMIM/603100.0002 http://purl.bioontology.org/ontology/OMIM/603100.0006 http://purl.bioontology.org/ontology/OMIM/603100.0004 http://purl.bioontology.org/ontology/OMIM/603100.0003 http://purl.bioontology.org/ontology/OMIM/603100.0009 http://purl.bioontology.org/ontology/OMIM/603100.0007 http://purl.bioontology.org/ontology/OMIM/603100.0008 http://purl.bioontology.org/ontology/OMIM/603100.0010 http://purl.bioontology.org/ontology/OMIM/603100.0012 http://purl.bioontology.org/ontology/OMIM/603100.0011
MIMTYPEMEANING	Gene with known sequence
Moved from	606166
notation	603100
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2
tui	T047 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D052497	MESH	CUI
http://purl.bioontology.org/ontology/MSHFRE/D052497	MSHFRE	CUI
http://www.orpha.net/ORDO/Orphanet_119525	ORDO	LOOM