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: Arthropathy, Neurogenic (D001177)
Parent Node: Coxa Vara (D060905)
Parent Node: Hand Deformities, Congenital (D006228)
Parent Node: Synovitis (D013585)
..Starting node ..Jacobs syndrome (C537560)
Child Nodes:
Sister Nodes:
..Eosinophilic synovitis (C535954)
..Jacobs syndrome (C537560)
..Synovitis granulomatous with uveitis and cranial neuropathies (C538157)
..Synovitis, Pigmented Villonodular (D013586)
..Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals (C536894)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5937

Name:

Jacobs syndrome

Definition:

Alternative IDs:

OMIM:208250

ParentIDs:

MESH:D001177|MESH:D006228|MESH:D013585|MESH:D060905

TreeNumbers:

C05.116.214.500.500/C537560 |C05.390.408/C537560 |C05.550.186/C537560 |C05.550.870/C537560 |C05.660.585.988.425/C537560 |C16.131.621.585.425/C537560 |C23.300.970.249.500/C537560

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Pathology (anatomical condition)

Reference:

MedGen: C537560
MeSH: C537560
OMIM: 208250;

Genes: PRG4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001369	Arthritis
3	HP:0003040	Arthropathy
4	HP:0005879	Congenital finger flexion contractures
5	HP:0002563	Constrictive pericarditis
6	HP:0002812	Coxa vara
7	HP:0011909	Flattened metacarpal heads
8	HP:0005194	Flattened metatarsal heads
9	HP:0005197	Generalized morning stiffness
10	HP:0005186	Synovial hypertrophy
11	HP:0001239	Wrist flexion contracture

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_005807.4(PRG4):c.4190_4191delCCinsAG (p.Ser1397Ter)	-1	-	Pathogenic	387906339	RCV000006009;	N	MedGen:C1859690,OMIM:208250,ORPHA:2848	1	186282885	186282886	NM_005807.4:c.4190_4191delCCinsAG	NP_005798.3:p.Ser1397Ter	NC_000001.10:g.186282885_186282886delCCinsAG	OMIM Allelic Variant:604283.0005	C1859690 208250 Camptodactyly arthropathy coxa vara pericarditis syndrome