Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	EMERIN
Synonyms	STA
ID	http://purl.bioontology.org/ontology/OMIM/300384
altLabel	STA EMD EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED
cui	C1414386 C0751337
Gene Locus	Xq28
Gene Symbol	STA EDMD EMD
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/300384.0009 http://purl.bioontology.org/ontology/OMIM/300384.0004 http://purl.bioontology.org/ontology/OMIM/300384.0006 http://purl.bioontology.org/ontology/OMIM/300384.0005 http://purl.bioontology.org/ontology/OMIM/300384.0010 http://purl.bioontology.org/ontology/OMIM/300384.0001 http://purl.bioontology.org/ontology/OMIM/300384.0002 http://purl.bioontology.org/ontology/OMIM/300384.0008 http://purl.bioontology.org/ontology/OMIM/300384.0003 http://purl.bioontology.org/ontology/OMIM/300384.0007
MIMTYPEMEANING	Gene with known sequence
notation	300384
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	EMERIN
tui	T028 T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D020389	Medical Subject Headings	CUI
http://purl.obolibrary.org/obo/PR_000007050	Protein Ontology	LOOM
http://purl.bmicc.cn/ontology/HPCH/HP_0030116	Human Phenotype Ontology China	LOOM
http://purl.bmicc.cn/ontology/HPCH/HP_0030117	Human Phenotype Ontology China	LOOM
http://purl.bioontology.org/ontology/MESH/C092710	Medical Subject Headings	LOOM
http://purl.bmicc.cn/ontology/HPCH/HP_0030118	Human Phenotype Ontology China	LOOM
http://purl.bioontology.org/ontology/ICD10CM/G71.0	International Classification of Diseases, Version 10 - Clinical Modification	CUI