Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615523 http://purl.bioontology.org/ontology/OMIM/615523
Preferred Name	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8
Synonyms	FECD8
Type	http://www.w3.org/2002/07/owl#Class

altLabel	FECD8
prefLabel	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8
Gene Symbol	CCP4 AGBL1 FECD8
Scope Statement	Intrafamilial variability in severity [MISCELLANEOUS] Twelve or more lesions per eye in individuals over 60 years of age [MISCELLANEOUS] Caused by mutation in the ATP/GTP-binding protein-like-1 gene (AGBL1, 615496.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU044504
tui	T047
Gene Locus	15q25.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615523
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3809798
OMIM Entry Type	3
OMIM MimType Value	pound

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