Online Mendelian Inheritance in Man - CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
Synonyms	PPCD2
ID	http://purl.bioontology.org/ontology/OMIM/609140
altLabel	PPCD2
cui	C1852795
Gene Locus	1p34.3-p32.3
Gene Symbol	PPCD2 FECD1 COL8A2
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU058739 http://purl.bioontology.org/ontology/OMIM/MTHU058743 http://purl.bioontology.org/ontology/OMIM/MTHU058737 http://purl.bioontology.org/ontology/OMIM/MTHU058741 http://purl.bioontology.org/ontology/OMIM/MTHU058738 http://purl.bioontology.org/ontology/OMIM/MTHU058736 http://purl.bioontology.org/ontology/OMIM/MTHU058742 http://purl.bioontology.org/ontology/OMIM/MTHU058740
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	609140
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C565176	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C565176	Medical Subject Headings	LOOM