Online Mendelian Inheritance in Man - SELENOPROTEIN N - Classes

Preferred Name	SELENOPROTEIN N
Synonyms	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
ID	http://purl.bioontology.org/ontology/OMIM/606210
altLabel	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION SELN RIGID SPINE MUSCULAR DYSTROPHY 1 SEPN1 SELENON
cui	C0410180 C0546264 C1423899
Gene Locus	1p36-p35
Gene Symbol	CFTD SELN RSMD1 SEPN1 SELENON
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/606210.0005 http://purl.bioontology.org/ontology/OMIM/606210.0001 http://purl.bioontology.org/ontology/OMIM/606210.0006 http://purl.bioontology.org/ontology/OMIM/606210.0007 http://purl.bioontology.org/ontology/OMIM/606210.0002 http://purl.bioontology.org/ontology/OMIM/606210.0009 http://purl.bioontology.org/ontology/OMIM/606210.0004 http://purl.bioontology.org/ontology/OMIM/606210.0003 http://purl.bioontology.org/ontology/OMIM/606210.0008
MIMTYPEMEANING	Gene with known sequence
notation	606210
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	SELENOPROTEIN N
tui	T028 T019 T047

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/PR_000014645	Protein Ontology	LOOM
http://purl.bioontology.org/ontology/MESH/C535683	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.2	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/MESH/D020914	Medical Subject Headings	CUI