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: Eye Diseases (D005128)
Parent Node: Infection (D007239)
..Starting node ..Eye Infections (D015817)
Child Nodes:
........Corneal Ulcer (D003320) 1
........Endophthalmitis (D009877) 2
........Eye Infections, Bacterial (D015818) 9
........Eye Infections, Fungal (D015821) 2
........Eye Infections, Parasitic (D015822) 3
........Eye Infections, Viral (D015828) 6
Sister Nodes:
..Aneurysm, Infected (D000785)
..Arthritis, Infectious (D001170) 2
..Bone Diseases, Infectious (D001850) 22
..Cardiovascular Infections (D053821) 5
..Catheter-Related Infections (D055499)
..Coinfection (D060085)
..Communicable Diseases (D003141) 1
..Community-Acquired Infections (D017714)
..Cross Infection (D003428) 1
..ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 (OMIM:608033)
..Eye Infections (D015817) 25
..Focal Infection (D005490) 1
..Gingivitis, Necrotizing Ulcerative (D005892)
..Intraabdominal Infections (D059413) 7
..Laboratory Infection (D007757)
..Ludwig's Angina (D008158)
..Opportunistic Infections (D009894) 3
..Pelvic Infection (D034161) 7
..Pregnancy Complications, Infectious (D011251) 4
..Prosthesis-Related Infections (D016459)
..Reproductive Tract Infections (D060737)
..Respiratory Tract Infections (D012141) 75
..Sepsis (D018805) 10
..Sexually Transmitted Diseases (D012749) 41
..Skin Diseases, Infectious (D012874) 103
..Soft Tissue Infections (D018461)
..Suppuration (D013492) 31
..Toxemia (D014115) 1
..Urinary Tract Infections (D014552) 3
..Wound Infection (D014946) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4052
Name:	Eye Infections
Definition:	Infection, moderate to severe, caused by bacteria, fungi, or viruses, which occurs either on the external surface of the eye or intraocularly with probable inflammation, visual impairment, or blindness.
Alternative IDs:
ParentIDs:	MESH:D005128\|MESH:D007239
TreeNumbers:	C01.539.375 \|C11.294
Synonyms:	Eye Infection \|Infection, Eye \|Infection, Ocular \|Infections, Eye \|Infections, Ocular \|Ocular Infection \|Ocular Infections
Slim Mappings:	Bacterial infection or mycosis\|Eye disease
Reference:	MedGen: D015817 MeSH: D015817 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants