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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: Eye Diseases, Hereditary (D015785)
Parent Node: Night Blindness (D009755)
..Starting node ..Night Blindness, Congenital Stationary, Autosomal Dominant 2 (C566869)
Child Nodes:
Sister Nodes:
..CSNB1C (C567704)
..Fleck Retina of Kandori (C562701)
..Night blindness skeletal anomalies unusual facies (C536121)
..Night blindness, congenital stationary (C536122) 4
..Night Blindness, Congenital Stationary, Autosomal Dominant 1 (C566474)
..Night Blindness, Congenital Stationary, Autosomal Dominant 2 (C566869)
..Night Blindness, Congenital Stationary, Autosomal Dominant 3 (C566475)
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (OMIM:610427)
..Oguchi disease (C537743)
..Retinopathy, Pericentral Pigmentary, Dominant (C566713)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8069

Name:

Night Blindness, Congenital Stationary, Autosomal Dominant 2

Definition:

Alternative IDs:

OMIM:163500

ParentIDs:

MESH:D009755|MESH:D015785

TreeNumbers:

C11.270/C566869 |C11.966.671/C566869 |C16.320.290/C566869

Synonyms:

CSNBAD2 |Night Blindness, Congenital Stationary, Rambusch Type

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C566869
MeSH: C566869
OMIM: 163500;

Genes: PDE6B;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007642	Congenital stationary night blindness

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_000283.3(PDE6B):c.772C>A (p.His258Asn)	5158	PDE6B	Pathogenic	121918582	RCV000013986;	N	MedGen:C1876182,OMIM:163500	4	647701	647701	NM_000283.3:c.772C>A	NP_000274.2:p.His258Asn	NC_000004.11:g.647701C>A	OMIM Allelic Variant:180072.0005	C1876182 163500 Congenital stationary night blindness, autosomal dominant 2