Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	EOSINOPHIL PEROXIDASE DEFICIENCY
Synonyms	EPXD
ID	http://purl.bioontology.org/ontology/OMIM/261500
altLabel	EPXD PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS EOSINOPHIL PEROXIDASE DEFICIENCY, PARTIAL PRESENTEY ANOMALY
cui	C1850000
Gene Locus	17q23.1
Gene Symbol	EPXD EPX
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU049092 http://purl.bioontology.org/ontology/OMIM/MTHU049096 http://purl.bioontology.org/ontology/OMIM/MTHU049094 http://purl.bioontology.org/ontology/OMIM/MTHU049095 http://purl.bioontology.org/ontology/OMIM/MTHU049093 http://purl.bioontology.org/ontology/OMIM/MTHU049097
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	261500
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	EOSINOPHIL PEROXIDASE DEFICIENCY
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C564893	Medical Subject Headings	CUI