Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/136800 http://purl.bioontology.org/ontology/OMIM/136800
Preferred Name	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1
Synonyms	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, EARLY-ONSET FECD1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, EARLY-ONSET FECD1
prefLabel	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1
Gene Symbol	COL8A2 PPCD2 FECD1
Scope Statement	Caused by mutation in the collagen type VIII alpha-2 gene (COL8A2, 120252.0001) [MOLECULAR BASIS] Greater expression in females [MISCELLANEOUS] Onset by 3rd or 4th decade (earlier onset rare) [MISCELLANEOUS] Usually sporadic [MISCELLANEOUS] Female to male ratio, 1:1 [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU024206 http://purl.bioontology.org/ontology/OMIM/MTHU024207 http://purl.bioontology.org/ontology/OMIM/MTHU048502 http://purl.bioontology.org/ontology/OMIM/MTHU024204 http://purl.bioontology.org/ontology/OMIM/MTHU048501 http://purl.bioontology.org/ontology/OMIM/MTHU024202 http://purl.bioontology.org/ontology/OMIM/MTHU058230 http://purl.bioontology.org/ontology/OMIM/MTHU048500 http://purl.bioontology.org/ontology/OMIM/MTHU053445 See more See less
tui	T047
Gene Locus	1p34.3-p32.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	136800
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1850959
OMIM Entry Type	3
OMIM MimType Value	pound

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