Medical Subject Headings

Last uploaded: November 5, 2019

Preferred Name	Corneal dystrophy, Fuchs' endothelial, 1
Synonyms	Fuchs' dystrophy
ID	http://purl.bioontology.org/ontology/MESH/C535478
altLabel	Fuchs' dystrophy Corneal Dystrophy, Fuchs Endothelial, Early-Onset Corneal Dystrophy, Fuchs Endothelial, 1 Dystrophia epithelialis corneae Corneal dystrophy, Fuchs' endothelial, early-onset Fuchs' endothelial corneal dystrophy, early-onset
cui	C1850959
HM	D005642
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D005642
MDA	20100825
MeSH Frequency	19
MMR	20160929
notation	C535478
prefLabel	Corneal dystrophy, Fuchs' endothelial, 1
SC	3
Scope Statement	Hereditary Fuch's Endothelial Corneal Dystrophy that is caused by mutations in the COLLAGEN TYPE VIII alpha-2 gene (COL8A2). OMIM: 136800
TERMUI	T736214 T736213 T736210 T805975 T736211 T736208 T805976
TH	ORD (2010) OMIM (2013)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/136800	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/136800	Online Mendelian Inheritance in Man	LOOM
http://purl.bioontology.org/ontology/OMIM/120252	Online Mendelian Inheritance in Man	CUI