Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
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- mtDNA Tool:
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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: Vascular Diseases (D014652)
Parent Node: Wounds and Injuries (D014947)
..Starting node ..Vascular System Injuries (D057772)
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:	11536
Name:	Vascular System Injuries
Definition:	Injuries to blood vessels caused by laceration, contusion, puncture, or crush and other types of injuries. Symptoms vary by site and mode of injuries and may include bleeding, bruising, swelling, pain, and numbness. It does not include injuries secondary to pathologic function or diseases such as ATHEROSCLEROSIS.
Alternative IDs:
ParentIDs:	MESH:D014652\|MESH:D014947
TreeNumbers:	C14.907.937 \|C26.940
Synonyms:	Injuries, Vascular \|Injuries, Vascular System \|Injury, Vascular \|Injury, Vascular System \|System Injuries, Vascular \|System Injury, Vascular \|Vascular Injuries \|Vascular Injury \|Vascular System Injury
Slim Mappings:	Cardiovascular disease\|Wounds and injuries
Reference:	MedGen: D057772 MeSH: D057772 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants