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)
Parent Node: Digestive System Abnormalities (D004065)
..Starting node ..Biliary Atresia (D001656)
Child Nodes:
........Ichthyosis Congenita With Biliary Atresia (C562886)
........Lambert syndrome (C538396)
Sister Nodes:
..Absent duct of Santorini (C535567)
..Acrorenal mandibular syndrome (C535665)
..Acrorenal syndrome recessive (C535666)
..Anus, Imperforate (D001006) 21
..Barrett Esophagus (D001471) 1
..Biliary Atresia (D001656) 2
..Choledochal Cyst (D015529) 2
..Craniosynostosis, anal anomalies, and porokeratosis (C536789)
..Currarino triad (C536221)
..Diaphragmatic Eventration (D003965) 1
..Esophageal Atresia (D004933) 2
..Hirschsprung Disease (D006627) 22
..Intestinal Atresia (D007409) 11
..Meckel Diverticulum (D008467)
..VACTERL Association With Hydrocephalus (C564751)
..Volvulus Of Midgut (C562456)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1266
Name:	Biliary Atresia
Definition:	Progressive destruction or the absence of all or part of the extrahepatic BILE DUCTS, resulting in the complete obstruction of BILE flow. Usually, biliary atresia is found in infants and accounts for one third of the neonatal cholestatic JAUNDICE.
Alternative IDs:
ParentIDs:	MESH:D001649\|MESH:D004065
TreeNumbers:	C06.130.120.123 \|C06.198.125 \|C16.131.314.125
Synonyms:	Atresia, Biliary \|Atresia, Extrahepatic Biliary \|Atresias, Extrahepatic Biliary \|Biliary Atresia, Extrahepatic \|Biliary Atresias, Extrahepatic \|Extrahepatic Biliary Atresia \|Extrahepatic Biliary Atresias \|Familial Extrahepatic Biliary Atresia \|Idiopathic Extrahe
Slim Mappings:	Congenital abnormality\|Digestive system disease
Reference:	MedGen: D001656 MeSH: D001656 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants