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: Esophageal Fistula (D004937)
Parent Node: Respiratory Tract Fistula (D016156)
Parent Node: Tracheal Diseases (D014133)
..Starting node ..Tracheoesophageal Fistula (D014138)
Child Nodes:
........Esophageal atresia with or without tracheoesophageal fistula (C531835)
........Martinez-Frias Syndrome (C563346)
........Oculodigitoesophagoduodenal syndrome (C537734)
........Vater Association With Hydrocephalus (C564752)
Sister Nodes:
..Novak syndrome (C537851)
..Tracheal Neoplasms (D014134)
..Tracheal Stenosis (D014135) 3
..Tracheitis (D014136)
..Tracheobronchomalacia (D055089) 4
..Tracheobronchomegaly (D014137)
..Tracheobronchopathia osteoplastica (C536977)
..Tracheoesophageal Fistula (D014138) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11191
Name:	Tracheoesophageal Fistula
Definition:	Abnormal passage between the ESOPHAGUS and the TRACHEA, acquired or congenital, often associated with ESOPHAGEAL ATRESIA.
Alternative IDs:
ParentIDs:	MESH:D004937\|MESH:D014133\|MESH:D016156
TreeNumbers:	C06.267.250.725 \|C06.405.117.367.725 \|C08.702.750 \|C08.907.863 \|C23.300.575.185.250.725
Synonyms:	Esophagotracheal Fistula \|Esophagotracheal Fistulas \|Fistula, Esophagotracheal \|Fistulas, Esophagotracheal \|Fistulas, Tracheoesophageal \|Fistula, Tracheoesophageal \|Tracheoesophageal Fistulas
Slim Mappings:	Digestive system disease\|Pathology (anatomical condition)\|Respiratory tract disease
Reference:	MedGen: D014138 MeSH: D014138 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants