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
- 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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- 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: Liver Diseases (D008107)
..Starting node ..Congenital Hepatic Fibrosis (C580013)
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:	2649
Name:	Congenital Hepatic Fibrosis
Definition:
Alternative IDs:
ParentIDs:	MESH:D008107
TreeNumbers:	C06.552/C580013
Synonyms:	Congenital Fibrose Liver
Slim Mappings:	Digestive system disease
Reference:	MedGen: C580013 MeSH: C580013 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants