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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Fuchs' Endothelial Dystrophy (D005642)
..Starting node ..Corneal endothelial dystrophy type 2 (C536439)
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:

2742

Name:

Corneal endothelial dystrophy type 2

Definition:

Alternative IDs:

OMIM:217700

ParentIDs:

MESH:D005642

TreeNumbers:

C11.204.236.438/C536439 |C11.270.162.438/C536439 |C16.320.290.162.410/C536439

Synonyms:

CHED2 |CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY OF CORNEA |Congenital hereditary endothelial dystrophy of the cornea |Corneal dystrophy, congenital hereditary endothelial |Corneal Endothelial Dystrophy 2 |CORNEAL ENDOTHELIAL DYSTROPHY 2, AUTOSOMAL RECESSIV

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C536439
MeSH: C536439
OMIM: 217700;

Genes: SLC4A11;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008005	Congenital corneal dystrophy
3	HP:0007759	Opacification of the corneal stroma

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_001174089.1(SLC4A11):c.425_433delGCTTCGCCAinsC (p.Arg142Profs)	83959	SLC4A11	Pathogenic	797045107	RCV000190625;	N	MedGen:C1857569,OMIM:217700,ORPHA:293603	20	3214819	3214827	NM_001174089.1:c.425_433delGCTTCGCCAinsC	NP_001167560.1:p.Arg142Profs	NC_000020.10:g.3214819_3214827delinsG	-	C1857569 217700 Corneal endothelial dystrophy type 2