Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	EMOPAMIL-BINDING PROTEIN
Synonyms	MEND SYNDROME
ID	http://purl.bioontology.org/ontology/OMIM/300205
altLabel	MEND SYNDROME EBP CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL 3-BETA-HYDROXYSTEROID-DELTA-8,DELTA-7 ISOMERASE CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
cui	C4016464 C0282102 C1414236 C4085243
Gene Locus	Xp11.23-p11.22
Gene Symbol	CDPX2 MEND CPXD EBP CPX
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/300205.0014 http://purl.bioontology.org/ontology/OMIM/300205.0010 http://purl.bioontology.org/ontology/OMIM/300205.0001 http://purl.bioontology.org/ontology/OMIM/300205.0003 http://purl.bioontology.org/ontology/OMIM/300205.0002 http://purl.bioontology.org/ontology/OMIM/300205.0017 http://purl.bioontology.org/ontology/OMIM/300205.0015 http://purl.bioontology.org/ontology/OMIM/300205.0016 http://purl.bioontology.org/ontology/OMIM/300205.0008 http://purl.bioontology.org/ontology/OMIM/300205.0009 http://purl.bioontology.org/ontology/OMIM/300205.0012 http://purl.bioontology.org/ontology/OMIM/300205.0013 http://purl.bioontology.org/ontology/OMIM/300205.0011 http://purl.bioontology.org/ontology/OMIM/300205.0005 http://purl.bioontology.org/ontology/OMIM/300205.0007
MIMTYPEMEANING	Gene with known sequence
Moved from	603938
notation	300205
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	EMOPAMIL-BINDING PROTEIN
tui	T028 T033 T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D002806	Medical Subject Headings	CUI