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: Abnormalities, Multiple (D000015)
Parent Node: Contracture (D003286)
Parent Node: Corneal Opacity (D003318)
Parent Node: Growth Disorders (D006130)
Parent Node: Osteolysis (D010014)
Parent Node: Osteoporosis (D010024)
..Starting node ..Winchester syndrome (C536709)
Child Nodes:
Sister Nodes:
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 (OMIM:613418)
..Exudative vitreoretinopathy 1 (C536382)
..Female Athlete Triad Syndrome (D053716)
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..Hernandez Fragoso syndrome (C536062)
..Juvenile osteoporosis (C537700)
..Macroepiphyseal dysplasia, McAlister Coe type (C537721)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
..NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
..NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (OMIM:612287)
..Neurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
..Osteoporosis, Postmenopausal (D015663)
..Prader-Willi habitus, osteopenia, and camptodactyly (C538276)
..Premature aging, Okamoto type (C535270)
..Singleton Merten syndrome (C537343)
..Winchester syndrome (C536709)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11763
Name:	Winchester syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D003286\|MESH:D003318\|MESH:D006130\|MESH:D010014\|MESH:D010024
TreeNumbers:	C05.116.198.579/C536709 \|C05.116.264.579/C536709 \|C05.550.323/C536709 \|C05.651.197/C536709 \|C11.204.299/C536709 \|C16.131.077/C536709 \|C23.550.393/C536709
Synonyms:	Winchester disease \|Winchester-Grossman disease \|Winchester-Grossman syndrome
Slim Mappings:	Congenital abnormality\|Eye disease\|Musculoskeletal disease\|Pathology (process)
Reference:	MedGen: C536709 MeSH: C536709 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants