Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Eye Diseases, Hereditary (D015785)
Parent Node: Retinal Diseases (D012164)
..Starting node ..Bothnia Retinal Dystrophy (C564392)
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:

1387

Name:

Bothnia Retinal Dystrophy

Definition:

Alternative IDs:

OMIM:607475

ParentIDs:

MESH:D012164|MESH:D015785

TreeNumbers:

C11.270/C564392 |C11.768/C564392 |C16.320.290/C564392

Synonyms:

Vasterbotten Dystrophy

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C564392
MeSH: C564392
OMIM: 607475;

Genes: RLBP1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000512	Abnormal electroretinogram
3	HP:0000608	Macular degeneration
4	HP:0000662	Nyctalopia
5	HP:0000556	Retinal dystrophy

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_000326.4(RLBP1):c.700C>T (p.Arg234Trp)	6017	RLBP1	Pathogenic	28933990	RCV000013979; RCV000013978;	N	MedGen:C1405854; MedGen:C1843816,OMIM:607475,ORPHA:85128	15	89754025	89754025	NM_000326.4:c.700C>T	NP_000317.1:p.Arg234Trp	NC_000015.9:g.89754025G>A	OMIM Allelic Variant:180090.0004	C1843816 607475 Bothnia retinal dystrophy; C1405854 Retinitis punctata albescens
NM_000326.4(RLBP1):c.286_297delTTCCTGCGCTTC (p.Phe96_Phe99del)	6017	RLBP1	Likely pathogenic	786205626	RCV000197318; RCV000171480;	N	MedGen:C1843816,OMIM:607475,ORPHA:85128; MedGen:CN221809	15	89760400	89760411	NM_000326.4:c.286_297delTTCCTGCGCTTC	NP_000317.1:p.Phe96_Phe99del	NC_000015.9:g.89760400_89760411delGAAGCGCAGGAA	-	C1843816 607475 Bothnia retinal dystrophy; CN221809 not provided