Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
Synonyms	EDMMD
ID	http://purl.bioontology.org/ontology/OMIM/132450
altLabel	EDMMD
cui	C1851536
Gene Locus	12q13.11-q13.2
Gene Symbol	COL2A1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU005669 http://purl.bioontology.org/ontology/OMIM/MTHU036730 http://purl.bioontology.org/ontology/OMIM/MTHU036735 http://purl.bioontology.org/ontology/OMIM/MTHU011178 http://purl.bioontology.org/ontology/OMIM/MTHU036732 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU036728 http://purl.bioontology.org/ontology/OMIM/MTHU036726 http://purl.bioontology.org/ontology/OMIM/MTHU000257 http://purl.bioontology.org/ontology/OMIM/MTHU002016 http://purl.bioontology.org/ontology/OMIM/MTHU036733 http://purl.bioontology.org/ontology/OMIM/MTHU036731 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU036734 http://purl.bioontology.org/ontology/OMIM/MTHU001976 http://purl.bioontology.org/ontology/OMIM/MTHU008756 http://purl.bioontology.org/ontology/OMIM/MTHU036725 http://purl.bioontology.org/ontology/OMIM/MTHU036729 http://purl.bioontology.org/ontology/OMIM/MTHU036727
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	132450
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C565046	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C565046	Medical Subject Headings	LOOM