Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Congenital Abnormalities (D000013)
Parent Node: Digestive System Diseases (D004066)
..Starting node ..Digestive System Abnormalities (D004065)
Child 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)
Sister Nodes:
..Biliary Tract Diseases (D001660) 68
..Digestive System Abnormalities (D004065) 78
..Digestive System Fistula (D016154) 12
..Digestive System Neoplasms (D004067) 99
..Gastrointestinal Diseases (D005767) 357
..Liver Diseases (D008107) 135
..Novak syndrome (C537851)
..Pancreatic Diseases (D010182) 51
..Peritoneal Diseases (D010532) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3368
Name:	Digestive System Abnormalities
Definition:	Congenital structural abnormalities of the DIGESTIVE SYSTEM.
Alternative IDs:
ParentIDs:	MESH:D000013\|MESH:D004066
TreeNumbers:	C06.198 \|C16.131.314
Synonyms:	Abnormalities, Digestive System \|Abnormality, Digestive System \|Digestive System Abnormality
Slim Mappings:	Congenital abnormality\|Digestive system disease
Reference:	MedGen: D004065 MeSH: D004065 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants