Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/608470 http://purl.bioontology.org/ontology/OMIM/608470
Preferred Name	CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE
Synonyms	REIS-BUCKLERS CORNEAL DYSTROPHY CDB1 GRANULAR CORNEAL DYSTROPHY, TYPE III CDRB RBCD CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I CORNEAL DYSTROPHY, GEOGRAPHIC
Type	http://www.w3.org/2002/07/owl#Class

altLabel	REIS-BUCKLERS CORNEAL DYSTROPHY CDB1 GRANULAR CORNEAL DYSTROPHY, TYPE III CDRB RBCD CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I CORNEAL DYSTROPHY, GEOGRAPHIC See more See less
prefLabel	CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE
Gene Symbol	TGFBI CSD CSD2 CDGG1 BIGH3 EBMD CDG2 See more See less
Scope Statement	Severe impairment of vision by the second decade of life [MISCELLANEOUS] Caused by mutation in the transforming growth factor, beta-induced 68-kd gene (TGFBI, 601692.0006) [MOLECULAR BASIS] Rapid progression of corneal opacities [MISCELLANEOUS] Onset in childhood [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU019383 http://purl.bioontology.org/ontology/OMIM/MTHU073700 http://purl.bioontology.org/ontology/OMIM/MTHU064280 http://purl.bioontology.org/ontology/OMIM/MTHU073697 http://purl.bioontology.org/ontology/OMIM/MTHU073699 http://purl.bioontology.org/ontology/OMIM/MTHU036378 http://purl.bioontology.org/ontology/OMIM/MTHU073698 http://purl.bioontology.org/ontology/OMIM/MTHU073696 See more See less
tui	T047
Gene Locus	5q31
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	608470
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C0339278
OMIM Entry Type	3
OMIM MimType Value	pound

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