Disease browser and phenotype portal

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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
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- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
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- LeighMap
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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)
..Starting node ..Lithiasis (D020347)
Child Nodes:
Sister 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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6494
Name:	Lithiasis
Definition:	A condition characterized by the formation of CALCULI and concretions in the hollow organs or ducts of the body. They occur most often in the gallbladder, kidney, and lower urinary tract.
Alternative IDs:
ParentIDs:	MESH:D010335
TreeNumbers:	C23.550.537
Synonyms:	Calculoses \|Calculosis \|Lithiases
Slim Mappings:	Pathology (process)
Reference:	MedGen: D020347 MeSH: D020347 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants