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: Wounds and Injuries (D014947)
..Starting node ..Soft Tissue Injuries (D017695)
Child Nodes:
Sister Nodes:
..Abdominal Injuries (D000007) 4
..Amputation, Traumatic (D000673)
..Arm Injuries (D001134) 10
..Asphyxia (D001237)
..Athletic Injuries (D001265)
..Back Injuries (D019567) 2
..Barotrauma (D001469) 2
..Battered Child Syndrome (D001497)
..Birth Injuries (D001720) 1
..Bites and Stings (D001733) 8
..Burns (D002056) 6
..Contrecoup Injury (D056886)
..Contusions (D003288)
..Craniocerebral Trauma (D006259) 61
..Dislocations (D004204) 16
..Drowning (D004332) 1
..Electric Injuries (D004556) 3
..Esophageal Perforation (D004939) 2
..Extravasation of Diagnostic and Therapeutic Materials (D005119)
..Foreign Bodies (D005547) 8
..Fractures, Bone (D050723) 42
..Fractures, Cartilage (D050724)
..Frostbite (D005627) 2
..Hand Injuries (D006230) 1
..Heat Stress Disorders (D018882) 3
..Hip Injuries (D025981) 3
..Lacerations (D022125)
..Leg Injuries (D007869) 15
..Multiple Trauma (D009104)
..Nasal Septal Perforation (D061270)
..Neck Injuries (D019838) 1
..Occupational Injuries (D060051)
..Radiation Injuries (D011832) 12
..Retropneumoperitoneum (D012188)
..Rupture (D012421) 6
..Self Mutilation (D012652)
..Shock, Traumatic (D012774) 1
..Soft Tissue Injuries (D017695)
..Spinal Cord Injuries (D013119) 3
..Spinal Injuries (D013124) 1
..Sprains and Strains (D013180) 5
..Tendon Injuries (D013708) 6
..Thoracic Injuries (D013898) 24
..Tooth Injuries (D018677) 3
..Trauma, Nervous System (D020196) 73
..Tympanic Membrane Perforation (D018058)
..Vascular System Injuries (D057772)
..Wound Infection (D014946) 1
..Wounds, Nonpenetrating (D014949) 5
..Wounds, Penetrating (D014950) 7
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10338
Name:	Soft Tissue Injuries
Definition:	Injuries of tissue other than bone. The concept is usually general and does not customarily refer to internal organs or viscera. It is meaningful with reference to regions or organs where soft tissue (muscle, fat, skin) should be differentiated from bones or bone tissue, as 'soft tissue injuries of the hand'.
Alternative IDs:
ParentIDs:	MESH:D014947
TreeNumbers:	C26.808
Synonyms:	Injuries, Soft Tissue \|Injury, Soft Tissue \|Soft Tissue Injury
Slim Mappings:	Wounds and injuries
Reference:	MedGen: D017695 MeSH: D017695 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants