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: Liver Cirrhosis, Biliary (D008105)
Parent Node: Raynaud Disease (D011928)
Parent Node: Scleroderma, Systemic (D012595)
Parent Node: Telangiectasis (D013684)
..Starting node ..REYNOLDS SYNDROME (OMIM:613471)
Child Nodes:
Sister Nodes:
..Ataxia Telangiectasia (D001260) 6
..CREST Syndrome (D017675)
..Cutis marmorata telangiectatica congenita (C536226)
..Epilepsy telangiectasia (C535497)
..Frenkel Russe syndrome (C535638)
..Glomerulonephritis sparse hair telangiectases (C536825)
..Hypotrichosis-Lymphedema-Telangiectasia Syndrome (C564327)
..Megalencephaly cutis marmorata telangiectatica congenita (C536142)
..Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related (C563358)
..Retinal Telangiectasis (D058456) 1
..REYNOLDS SYNDROME (OMIM:613471)
..Telangiectasia, Generalized Essential (C562998)
..Telangiectasia, Hereditary Benign (C562908)
..Telangiectasia, Hereditary Hemorrhagic (D013683) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9811

Name:

REYNOLDS SYNDROME

Definition:

Alternative IDs:

ParentIDs:

MESH:D008105|MESH:D011928|MESH:D012595|MESH:D013684

TreeNumbers:

C06.130.120.135.250.250/613471 |C06.552.150.250/613471 |C06.552.630.400/613471 |C14.907.617.812/613471 |C14.907.823/613471 |C17.300.799/613471 |C17.800.784/613471

Synonyms:

PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA

Slim Mappings:

Cardiovascular disease|Connective tissue disease|Digestive system disease|Skin disease

Reference:

MedGen: 613471
MeSH: 613471
OMIM: 613471;

Genes: LBR;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002613	Biliary cirrhosis
3	HP:0003761	Calcinosis
4	HP:0025520	Calcinosis cutis
5	HP:0003155	Elevated circulating alkaline phosphatase concentration
6	HP:0002910	Elevated hepatic transaminase
7	HP:0002239	Gastrointestinal hemorrhage
8	HP:0002240	Hepatomegaly
9	HP:0002904	Hyperbilirubinemia
10	HP:0000952	Jaundice
11	HP:0000214	Lip telangiectasia
12	HP:0100869	Palmar telangiectasia
13	HP:0000989	Pruritus
14	HP:0030880	Raynaud phenomenon
15	HP:0011838	Sclerodactyly
16	HP:0100324	Scleroderma
17	HP:0001744	Splenomegaly
18	HP:0002570	Steatorrhea

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_194442.2(LBR):c.1114C>T (p.Arg372Cys)	3930	LBR	Pathogenic	200180113	RCV000010141;	N	MedGen:C0748397,OMIM:613471,ORPHA:779	1	225599113	225599113	NM_194442.2:c.1114C>T	NP_919424.1:p.Arg372Cys	NC_000001.10:g.225599113G>A	OMIM Allelic Variant:600024.0007	C0748397 613471 Reynolds syndrome