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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Fuchs' Endothelial Dystrophy (D005642)
..Starting node ..Corneal dystrophy, Fuchs' endothelial, 2 (C535479)
Child Nodes:
Sister Nodes:
..Cornea guttata with anterior polar cataract (C535471)
..Corneal Dystrophy, Fuchs Endothelial, 3 (C567678)
..Corneal Dystrophy, Fuchs Endothelial, 4 (C567677)
..Corneal Dystrophy, Fuchs Endothelial, 5 (C567676)
..Corneal Dystrophy, Fuchs Endothelial, 6 (C567675)
..Corneal Dystrophy, Fuchs Endothelial, 7 (C567674)
..Corneal dystrophy, Fuchs' endothelial, 1 (C535478)
..Corneal dystrophy, Fuchs' endothelial, 2 (C535479)
..Corneal endothelial dystrophy type 2 (C536439)
..Fuchs atrophia gyrata chorioideae et retinae (C538071)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2721

Name:

Corneal dystrophy, Fuchs' endothelial, 2

Definition:

Alternative IDs:

OMIM:610158

ParentIDs:

MESH:D005642

TreeNumbers:

C11.204.236.438/C535479 |C11.270.162.438/C535479 |C16.320.290.162.410/C535479

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C535479
MeSH: C535479
OMIM: 610158;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007705	Corneal degeneration
3	HP:0001131	Corneal dystrophy
4	HP:0012038	Corneal guttata
5	HP:0000969	Edema

Disease Causing ClinVar Variants