Online Mendelian Inheritance in Man - CORNEAL DYSTROPHY, CONGENITAL STROMAL - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	CORNEAL DYSTROPHY, CONGENITAL STROMAL
Synonyms	CSCD
ID	http://purl.bioontology.org/ontology/OMIM/610048
altLabel	CSCD CONGENITAL STROMAL CORNEAL DYSTROPHY
cui	C1864738
Gene Locus	12q21.3
Gene Symbol	CSCD DCN
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU042988 http://purl.bioontology.org/ontology/OMIM/MTHU039009 http://purl.bioontology.org/ontology/OMIM/MTHU039007 http://purl.bioontology.org/ontology/OMIM/MTHU042986 http://purl.bioontology.org/ontology/OMIM/MTHU017834 http://purl.bioontology.org/ontology/OMIM/MTHU039008 http://purl.bioontology.org/ontology/OMIM/MTHU039011 http://purl.bioontology.org/ontology/OMIM/MTHU042987
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	610048
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CORNEAL DYSTROPHY, CONGENITAL STROMAL
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C566452	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C566452	Medical Subject Headings	LOOM