Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618767 http://purl.bioontology.org/ontology/OMIM/618767
Preferred Name	CORNEAL DYSTROPHY, MEESMANN, 2
Synonyms	MECD2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MECD2
prefLabel	CORNEAL DYSTROPHY, MEESMANN, 2
Gene Symbol	MECD2 KRT3
Scope Statement	Disease is usually benign [MISCELLANEOUS] Many patients are asymptomatic [MISCELLANEOUS] Caused by mutation in the keratin 3, type II gene (KRT3, 148043.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002179 http://purl.bioontology.org/ontology/OMIM/MTHU036378 http://purl.bioontology.org/ontology/OMIM/MTHU070826 http://purl.bioontology.org/ontology/OMIM/MTHU070825 http://purl.bioontology.org/ontology/OMIM/MTHU070824
tui	T047
Gene Locus	12q13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618767
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5231495
OMIM Entry Type	3
OMIM MimType Value	pound

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