Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY
Synonyms	PAFAD
ID	http://purl.bioontology.org/ontology/OMIM/614278
altLabel	PAFAD
cui	C3280315
Gene Locus	6p21.2-p12
Gene Symbol	PAFAH PAFAD PLA2G7
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU058961 http://purl.bioontology.org/ontology/OMIM/MTHU058959 http://purl.bioontology.org/ontology/OMIM/MTHU058960 http://purl.bioontology.org/ontology/OMIM/MTHU058958
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614278
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY
tui	T047

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/HP_0040175	Human Phenotype Ontology	LOOM
http://purl.bioontology.org/ontology/MESH/C566640	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C566640	Medical Subject Headings	LOOM