Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	BIGLYCAN
Synonyms	PGI
ID	http://purl.bioontology.org/ontology/OMIM/301870
altLabel	PGI BGN PROTEOGLYCAN I SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED MEESTER-LOEYS SYNDROME
cui	C1848097 C1412792 C4310811
Gene Locus	Xq28
Gene Symbol	BGN SEMDX MRLS
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/301870.0002 http://purl.bioontology.org/ontology/OMIM/301870.0004 http://purl.bioontology.org/ontology/OMIM/301870.0003 http://purl.bioontology.org/ontology/OMIM/301870.0001 http://purl.bioontology.org/ontology/OMIM/301870.0005 http://purl.bioontology.org/ontology/OMIM/301870.0006
MIMTYPEMEANING	Gene with known sequence
notation	301870
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	BIGLYCAN
tui	T028 T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D058578	Medical Subject Headings	LOOM
http://purl.obolibrary.org/obo/FMA_82825	Foundational Model of Anatomy	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C105840	National Cancer Institute Thesaurus	LOOM
http://purl.obolibrary.org/obo/PR_000004735	Protein Ontology	LOOM
http://purl.bioontology.org/ontology/MESH/C564714	Medical Subject Headings	CUI