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

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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Pathologic Processes (D010335)
Parent Node: Wounds and Injuries (D014947)
..Starting node ..Extravasation of Diagnostic and Therapeutic Materials (D005119)
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:	4038
Name:	Extravasation of Diagnostic and Therapeutic Materials
Definition:	The escape of diagnostic or therapeutic material from the vessel into which it is introduced into the surrounding tissue or body cavity.
Alternative IDs:
ParentIDs:	MESH:D010335\|MESH:D014947
TreeNumbers:	C23.550.340 \|C26.371
Synonyms:	Contrast Media Extravasation \|Extravasation of Contrast Media \|Extravasation of Diagnostic, Therapeutic Materials
Slim Mappings:	Pathology (process)\|Wounds and injuries
Reference:	MedGen: D005119 MeSH: D005119 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants