Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1
Synonyms	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, EARLY-ONSET
ID	http://purl.bioontology.org/ontology/OMIM/136800
altLabel	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, EARLY-ONSET FECD1
cui	C1850959
Gene Locus	1p34.3-p32.3
Gene Symbol	PPCD2 FECD1 COL8A2
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU024210 http://purl.bioontology.org/ontology/OMIM/MTHU053445 http://purl.bioontology.org/ontology/OMIM/MTHU058230 http://purl.bioontology.org/ontology/OMIM/MTHU048501 http://purl.bioontology.org/ontology/OMIM/MTHU024209 http://purl.bioontology.org/ontology/OMIM/MTHU024207 http://purl.bioontology.org/ontology/OMIM/MTHU024211 http://purl.bioontology.org/ontology/OMIM/MTHU024204 http://purl.bioontology.org/ontology/OMIM/MTHU024202 http://purl.bioontology.org/ontology/OMIM/MTHU027078 http://purl.bioontology.org/ontology/OMIM/MTHU048502 http://purl.bioontology.org/ontology/OMIM/MTHU048500 http://purl.bioontology.org/ontology/OMIM/MTHU024206 http://purl.bioontology.org/ontology/OMIM/MTHU058229
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	136800
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C535478	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C535478	Medical Subject Headings	LOOM