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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

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Disease Browser
Parent Node: Retinal Diseases (D012164)
..Starting node ..Fundus Albipunctatus (C562733)
Child Nodes:
Sister Nodes:
..Al Gazali Sabrinathan Nair syndrome (C535617)
..Angioid Streaks (D000793)
..Ausems Wittebol-Post Hennekam syndrome (C538272)
..Bestrophinopathy (C567518)
..BESTROPHINOPATHY, AUTOSOMAL RECESSIVE (OMIM:611809)
..Bietti Crystalline Dystrophy (C535440)
..Bothnia Retinal Dystrophy (C564392)
..Central Serous Chorioretinopathy (D056833)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Diabetic Retinopathy (D003930) 1
..Epiretinal Membrane (D019773)
..Exudative Vitreoretinopathy 4 (C566619)
..Exudative Vitreoretinopathy 5 (C567648)
..Familial Exudative Vitreoretinopathy (C580083)
..Fleck Retina, Familial Benign (C565564)
..FLOTCH syndrome (C537065)
..Fundus Albipunctatus (C562733)
..Grouped Pigmentation of the Macula (C565530)
..Hypertensive Retinopathy (D058437)
..Iris hypoplasia and glaucoma (C535538)
..Leber Congenital Amaurosis (D057130) 20
..Microcephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..Oculomelic amyoplasia (C537737)
..Rambaud Galian syndrome (C535283)
..Ramos Arroyo Clark syndrome (C535286)
..Retinal Aplasia (C566720)
..Retinal Artery Occlusion (D015356) 1
..Retinal Degeneration (D012162) 195
..Retinal Detachment (D012163) 9
..Retinal Dysplasia (D015792) 2
..RETINAL DYSPLASIA, PRIMARY (OMIM:312550)
..Retinal Hemorrhage (D012166) 2
..Retinal Neoplasms (D019572) 3
..Retinal Neovascularization (D015861)
..Retinal Nonattachment, Nonsyndromic Congenital (C565633)
..Retinal Perforations (D012167)
..Retinal Telangiectasis (D058456) 1
..Retinal Vasculitis (D031300) 1
..Retinal Vein Occlusion (D012170)
..Retinitis (D012173) 4
..Retinopathy of Prematurity (D012178)
..Roifman syndrome (C535866)
..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..Vasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..Vitreoretinopathy, Proliferative (D018630) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4456

Name:

Fundus Albipunctatus

Definition:

Alternative IDs:

OMIM:136880

ParentIDs:

MESH:D012164

TreeNumbers:

C11.768/C562733

Synonyms:

Retinitis Punctata Albescens |RETINITIS PUNCTATA ALBESCENS, INCLUDED

Slim Mappings:

Eye disease

Reference:

MedGen: C562733
MeSH: C562733
OMIM: 136880;

Genes: PRPH2; RDH5; RHO; RLBP1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0030642	Fundus albipunctatus

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_002905.3(RDH5):c.285G>A (p.Trp95Ter)	-1	-	Pathogenic	774122562	RCV000190620;	N	MedGen:C0311338,OMIM:136880,SNOMED CT:68222009	12	56115253	56115253	NM_002905.3:c.285G>A	NP_002896.2:p.Trp95Ter	NC_000012.11:g.56115253G>A	-	C0311338 136880 Pigmentary retinal dystrophy
NM_000326.4(RLBP1):c.452G>A (p.Arg151Gln)	6017	RLBP1	Pathogenic	137853290	RCV000013974; RCV000013973;	N	MedGen:C0311338,OMIM:136880,SNOMED CT:68222009; MedGen:C1405854	15	89758364	89758364	NM_000326.4:c.452G>A	NP_000317.1:p.Arg151Gln	NC_000015.9:g.89758364C>T	OMIM Allelic Variant:180090.0001	C0311338 136880 Pigmentary retinal dystrophy; C1405854 Retinitis punctata albescens