Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/609140 http://purl.bioontology.org/ontology/OMIM/609140
Preferred Name	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
Synonyms	PPCD2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PPCD2
prefLabel	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
Gene Symbol	COL8A2 PPCD2 FECD1
Scope Statement	Limited clinical details available [MISCELLANEOUS] Based on 3 patients in 2 families (last curated December 2017) [MISCELLANEOUS] Caused by mutation in the collagen type VIII alpha-2 gene (120252.0001) [MOLECULAR BASIS] Onset by 12 years of age [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU058739 http://purl.bioontology.org/ontology/OMIM/MTHU058737 http://purl.bioontology.org/ontology/OMIM/MTHU058736 http://purl.bioontology.org/ontology/OMIM/MTHU058738
tui	T047
Gene Locus	1p34.3-p32.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	609140
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1852795
OMIM Entry Type	3
OMIM MimType Value	pound

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