Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Aphakia (D001035)
..Starting node ..Aphakia, congenital primary (C537786)
Child Nodes:
Sister Nodes:
..Aphakia, congenital primary (C537786)
..Aphakia, Postcataract (D001036)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

806

Name:

Aphakia, congenital primary

Definition:

Alternative IDs:

OMIM:610256

ParentIDs:

MESH:D001035

TreeNumbers:

C11.510.103/C537786

Synonyms:

Congenital primary aphakia

Slim Mappings:

Eye disease

Reference:

MedGen: C537786
MeSH: C537786
OMIM: 610256;

Genes: FOXE3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000526	Aniridia
3	HP:0007779	Anterior segment of eye aplasia
4	HP:0000518	Cataract
5	HP:0007707	Congenital aphakia
6	HP:0000482	Microcornea
7	HP:0000568	Microphthalmia
8	HP:0000639	Nystagmus
9	HP:0000659	Peters anomaly
10	HP:0011484	Posterior synechiae of the anterior chamber
11	HP:0000647	Sclerocornea

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_012186.2(FOXE3):c.720C>A (p.Cys240Ter)	-1	-	Pathogenic	80358194	RCV000008963;	N	MedGen:C1853230,OMIM:610256	1	47882707	47882707	NM_012186.2:c.720C>A	NP_036318.1:p.Cys240Ter	NC_000001.10:g.47882707C>A	OMIM Allelic Variant:601094.0002	C1853230 610256 Aphakia, congenital primary