Disease browser and phenotype portal

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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

Disease Browser
Parent Node: Bile Duct Diseases (D001649)
..Starting node ..Cholestasis (D002779)
Child Nodes:
........Aagenaes syndrome (C535330)
........Arthrogryposis renal dysfunction cholestasis syndrome (C535382)
........Bile acid synthesis defect, congenital, 1 (C535442)
........Bile acid synthesis defect, congenital, 2 (C535443)
........Bile Acid Synthesis Defect, Congenital, 3 (C566340)
........Cholestasis with Gallstone, Ataxia, and Visual Disturbance (C565856)
........Cholestasis, Extrahepatic (D001651)
........Cholestasis, Intrahepatic (D002780) 14
........Cholesterol pneumonia (C535937)
........COACH syndrome (C536430)
........Finnish lethal neonatal metabolic syndrome (C537934)
........Hardikar syndrome (C535632)
........Lutz Richner Landolt syndrome (C537726)
........Mirizzi Syndrome (D057792)
Sister Nodes:
..Bile Duct Neoplasms (D001650) 2
..Biliary Atresia (D001656) 2
..Cholangitis (D002761) 3
..Choledochal Cyst (D015529) 2
..Cholestasis (D002779) 28
..Common Bile Duct Diseases (D003137) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2104
Name:	Cholestasis
Definition:	Impairment of bile flow due to obstruction in small bile ducts (INTRAHEPATIC CHOLESTASIS) or obstruction in large bile ducts (EXTRAHEPATIC CHOLESTASIS).
Alternative IDs:
ParentIDs:	MESH:D001649
TreeNumbers:	C06.130.120.135
Synonyms:	Bile Duct Obstruction \|Bile Duct Obstructions \|Biliary Stases \|Biliary Stasis \|Cholestases \|Duct Obstruction, Bile \|Duct Obstructions, Bile \|Obstruction, Bile Duct \|Obstructions, Bile Duct \|Stases, Biliary \|Stasis, Biliary
Slim Mappings:	Digestive system disease
Reference:	MedGen: D002779 MeSH: D002779 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants