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: Pathological Conditions, Signs and Symptoms (D013568)
..Starting node ..Pathologic Processes (D010335)
Child Nodes:
........Acantholysis (D000051) 1
........Arrhythmias, Cardiac (D001145) 112
........Ascites (D001201)
........Atrial Remodeling (D064752)
........Azotemia (D053099)
........Cardiotoxicity (D066126)
........Channelopathies (D053447) 1
........Chromosome Aberrations (D002869) 271
........Death (D003643) 27
........Dehydration (D003681)
........Delayed Graft Function (D051799)
........Disease (D004194) 1
........Disease Attributes (D020969) 171
........Dysbiosis (D064806)
........Emphysema (D004646) 6
........Extravasation of Diagnostic and Therapeutic Materials (D005119)
........Femoracetabular Impingement (D057925)
........Fibrosis (D005355) 16
........Genomic Instability (D042822) 5
........Gliosis (D005911) 1
........Granuloma (D006099) 17
........Granulomatosis, Orofacial (D051261)
........Growth Disorders (D006130) 191
........Hemolysis (D006461) 2
........Hemorrhage (D006470) 84
........Hyperammonemia (D022124) 3
........Hyperamylasemia (D034321)
........Hyperbilirubinemia (D006932) 13
........Hyperplasia (D006965) 4
........Hyperuricemia (D033461) 8
........Hypovolemia (D020896)
........Inflammation (D007249) 52
........Intraoperative Complications (D007431) 15
........Ischemia (D007511) 3
........Leukoaraiosis (D049292)
........Leukocytosis (D007964) 6
........Lithiasis (D020347)
........Malacoplakia (D008287) 1
........Menstruation Disturbances (D008599) 10
........Metaplasia (D008679) 4
........Muscle Weakness (D018908) 5
........Necrosis (D009336) 12
........Neointima (D058426)
........Neoplastic Processes (D009385) 18
........Nerve Degeneration (D009410) 7
........Ochronosis (D009794) 2
........Ossification, Heterotopic (D009999) 7
........Polydipsia (D059606) 1
........Postoperative Complications (D011183) 42
........Protein Aggregation, Pathological (D066263)
........Respiratory Aspiration (D053120) 1
........Retropneumoperitoneum (D012188)
........Sclerosis (D012598) 8
........Shock (D012769) 18
........Teratogenesis (D064793)
........Ulcer (D014456) 1
........Vascular Remodeling (D066253)
........Yang Deficiency (D016711)
........Yin Deficiency (D016710)
Sister Nodes:
..Morphological and Microscopic Findings (D065308) 3
..Pathologic Processes (D010335) 1132
..Pathological Conditions, Anatomical (D020763) 522
..Signs and Symptoms (D012816) 1837
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8722
Name:	Pathologic Processes
Definition:	The abnormal mechanisms and forms involved in the dysfunctions of tissues and organs.
Alternative IDs:
ParentIDs:	MESH:D013568
TreeNumbers:	C23.550
Synonyms:	Pathological Processes \|Processes, Pathologic \|Processes, Pathological
Slim Mappings:	Pathology (process)
Reference:	MedGen: D010335 MeSH: D010335 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants