Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

COLLAGEN, TYPE VIII, ALPHA-2

Synonyms

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1

ID

http://purl.bioontology.org/ontology/OMIM/120252

altLabel

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1

COL8A2

CORNEAL DYSTROPHY, POLYMORPHOUS POSTERIOR, 2

cui

C1850959

C1413594

C1852795

Gene Locus

1p34.3-p32.3

Gene Symbol

PPCD2

FECD1

COL8A2

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/120252.0001

http://purl.bioontology.org/ontology/OMIM/120252.0003

http://purl.bioontology.org/ontology/OMIM/120252.0004

MIMTYPEMEANING

Gene with known sequence

notation

120252

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

COLLAGEN, TYPE VIII, ALPHA-2

tui

T028

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/C535478 Medical Subject Headings CUI