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
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- 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: Kidney Diseases (D007674)
Parent Node: Liver Diseases (D008107)
..Starting node ..Hepatorenal Syndrome (D006530)
Child Nodes:
Sister Nodes:
..alpha 1-Antitrypsin Deficiency (D019896) 1
..Budd-Chiari Syndrome (D006502) 1
..Carnitine Palmitoyltransferase II Deficiency, Infantile (C563462)
..Cholestasis, Intrahepatic (D002780) 14
..COACH syndrome (C536430)
..Congenital Hepatic Fibrosis (C580013)
..Cyanosis and Hepatic Disease (C565660)
..Drug-Induced Liver Injury (D056486) 2
..Fatty Liver (D005234) 6
..Focal Nodular Hyperplasia (D020518)
..Glycogen Storage Disease 0, Liver (C565485)
..GSD IV, Nonprogressive Hepatic (C565540)
..Hepatic Insufficiency (D048550) 9
..Hepatic Veno-Occlusive Disease (D006504) 1
..Hepatitis (D006505) 17
..Hepatolenticular Degeneration (D006527) 2
..Hepatomegaly (D006529) 4
..Hepatopulmonary Syndrome (D020065)
..Hepatorenal Syndrome (D006530)
..Hypertension, Portal (D006975) 3
..Liver Abscess (D008100) 2
..Liver Cirrhosis (D008103) 16
..Liver Diseases, Alcoholic (D008108) 3
..Liver Diseases, Parasitic (D008109) 5
..Liver Fibrocystic Disease and Polydactyly (C565272)
..Liver Neoplasms (D008113) 8
..Navajo neurohepatopathy (C538344) 1
..Peliosis Hepatis (D010382)
..Phosphoenolpyruvate carboxykinase deficiency (C536654)
..Polycystic liver disease (C536330)
..Porphyrias, Hepatic (D017094) 14
..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
..Retinohepatoendocrinologic Syndrome (C564839)
..Tuberculosis, Hepatic (D014386)
..Zellweger Syndrome (D015211) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5102
Name:	Hepatorenal Syndrome
Definition:	Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention.
Alternative IDs:
ParentIDs:	MESH:D007674\|MESH:D008107
TreeNumbers:	C06.552.465 \|C12.777.419.291 \|C13.351.968.419.291
Synonyms:	Syndrome, Hepatorenal
Slim Mappings:	Digestive system disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D006530 MeSH: D006530 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants