Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/122200 http://purl.bioontology.org/ontology/OMIM/122200
Preferred Name	CORNEAL DYSTROPHY, LATTICE TYPE I
Synonyms	LCD1 CDL1 LCD LATTICE CORNEAL DYSTROPHY, TYPE I
Type	http://www.w3.org/2002/07/owl#Class

altLabel	LCD1 CDL1 LCD LATTICE CORNEAL DYSTROPHY, TYPE I
prefLabel	CORNEAL DYSTROPHY, LATTICE TYPE I
Gene Symbol	TGFBI CSD CSD2 CDGG1 BIGH3 EBMD CDG2 See more See less
Scope Statement	Caused by mutation in the 68-kD transforming growth factor-beta-induced gene (TGFBI, 601692.0003) [MOLECULAR BASIS] Significant phenotypic variability [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036632 http://purl.bioontology.org/ontology/OMIM/MTHU036630 http://purl.bioontology.org/ontology/OMIM/MTHU036631 http://purl.bioontology.org/ontology/OMIM/MTHU036633
tui	T047
Gene Locus	5q31
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	122200
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1690006
OMIM Entry Type	3
OMIM MimType Value	pound

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