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: Marfan Syndrome (D008382)
..Starting node ..Marfanoid hypermobility syndrome (C531742)
Child Nodes:
Sister Nodes:
..Cutis Laxa-Marfanoid Syndrome (C563639)
..Furlong syndrome (C538192)
..Lujan Fryns syndrome (C537724)
..Marfan Syndrome type 2 (C535911)
..Marfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
..Marfanoid Habitus with Situs Inversus (C563814)
..Marfanoid hypermobility syndrome (C531742)
..Marfanoid Mental Retardation Syndrome, Autosomal (C565410)
..Shprintzen Golberg craniosynostosis (C537328)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6791

Name:

Marfanoid hypermobility syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D008382

TreeNumbers:

C05.116.099.674/C531742 |C14.240.400.725/C531742 |C14.280.400.725/C531742 |C16.131.077.550/C531742 |C16.131.240.400.720/C531742 |C16.320.540/C531742 |C17.300.500/C531742

Synonyms:

Contractural arachnodactyly |Marfan syndrome type 1

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: C531742
MeSH: C531742
OMIM: 154750;

Genes:

Phenotypes

1	HP:0000951	Abnormality of the skin
2	HP:0004942	Aortic aneurysm
3	HP:0001659	Aortic regurgitation
4	HP:0001166	Arachnodactyly
5	HP:0001083	Ectopia lentis
6	HP:0001507	Growth abnormality
7	HP:0000218	High palate
8	HP:0002705	High, narrow palate
9	HP:0001382	Joint hypermobility
10	HP:0001653	Mitral regurgitation
11	HP:0007700	Ocular anterior segment dysgenesis
12	HP:0000768	Pectus carinatum
13	HP:0000767	Pectus excavatum
14	HP:0002650	Scoliosis

Disease Causing ClinVar Variants