Online Mendelian Inheritance in Man - EMERIN - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/300384 http://purl.bioontology.org/ontology/OMIM/300384
Preferred Name	EMERIN
Synonyms	EMD EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED STA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EMD EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED STA
prefLabel	EMERIN
Gene Symbol	EDMD EMD STA
notation	300384
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/300384.0005 http://purl.bioontology.org/ontology/OMIM/300384.0001 http://purl.bioontology.org/ontology/OMIM/300384.0006 http://purl.bioontology.org/ontology/OMIM/300384.0008 http://purl.bioontology.org/ontology/OMIM/300384.0004 http://purl.bioontology.org/ontology/OMIM/300384.0002 http://purl.bioontology.org/ontology/OMIM/300384.0007 http://purl.bioontology.org/ontology/OMIM/300384.0009 http://purl.bioontology.org/ontology/OMIM/300384.0003 http://purl.bioontology.org/ontology/OMIM/300384.0010 See more See less
OMIM MimType Value	star
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047 http://purl.bioontology.org/ontology/STY/T028
OMIM Entry Type	1
type	http://www.w3.org/2002/07/owl#Class
MIMTYPEMEANING	Gene with known sequence
Gene Locus	Xq28
Phenotype of	http://purl.bioontology.org/ontology/OMIM/300384.0005 http://purl.bioontology.org/ontology/OMIM/300384.0001 http://purl.bioontology.org/ontology/OMIM/300384.0006 http://purl.bioontology.org/ontology/OMIM/300384.0008 http://purl.bioontology.org/ontology/OMIM/300384.0004 http://purl.bioontology.org/ontology/OMIM/300384.0002 http://purl.bioontology.org/ontology/OMIM/300384.0007 http://purl.bioontology.org/ontology/OMIM/300384.0009 http://purl.bioontology.org/ontology/OMIM/300384.0003 http://purl.bioontology.org/ontology/OMIM/300384.0010 See more See less
tui	T047 T028
cui	C0751337 C1414386

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