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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: Night Blindness (D009755)
Parent Node: Retinal Dystrophies (D058499)
..Starting node ..Retinopathy, Pericentral Pigmentary, Dominant (C566713)
Child Nodes:
Sister Nodes:
..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..CONE-ROD DYSTROPHY 15 (OMIM:613660)
..CONE-ROD DYSTROPHY 9 (OMIM:612775)
..CONE-ROD DYSTROPHY, X-LINKED, 1 (OMIM:304020)
..Ghose Sachdev Kumar syndrome (C537803)
..Patterned dystrophy of retinal pigment epithelium (C536309)
..Reticular Dystrophy Of Retinal Pigment Epithelium (C566721)
..Retinal Dystrophy, Early Onset Severe (C565741)
..Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole (C564844)
..Retinitis Pigmentosa (D012174) 132
..Retinopathy, Pericentral Pigmentary, Dominant (C566713)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9790

Name:

Retinopathy, Pericentral Pigmentary, Dominant

Definition:

Alternative IDs:

ParentIDs:

MESH:D009755|MESH:D058499

TreeNumbers:

C11.768.585.658/C566713 |C11.966.671/C566713

Synonyms:

Slim Mappings:

Eye disease

Reference:

MedGen: C566713
MeSH: C566713
OMIM: 180210;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007843	Attenuation of retinal blood vessels
3	HP:0000618	Blindness
4	HP:0007737	Bone spicule pigmentation of the retina
5	HP:0000662	Nyctalopia
6	HP:0000580	Pigmentary retinopathy
7	HP:0001105	Retinal atrophy
8	HP:0000556	Retinal dystrophy
9	HP:0000488	Retinopathy

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_000546.5(TP53):c.475_481dupGCCATGG (p.Ala161Glyfs)	7157	TP53	Pathogenic	863223301	RCV000013180; RCV000013179;	N	MedGen:C0029463,OMIM:259500,ORPHA:668,SNOMED CT:21708004; MedGen:C0205770,OMIM:260500,ORPHA:2807,SNOMED CT:18021007	17	7578449	7578455	NM_000546.5:c.475_481dupGCCATGG	NP_000537.3:p.Ala161Glyfs	NC_000017.10:g.7578449_7578455dupCCATGGC	OMIM Allelic Variant:191170.0036	C0205770 260500 Choroid plexus papilloma; C1857588 217080 Cone-rod dystrophy amelogenesis imperfecta; C0029463 259500 Osteosarcoma; C1867261 180210 Retinopathy, pericentral pigmentary, dominant