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: Gastrointestinal Diseases (D005767)
..Starting node ..Esophageal Diseases (D004935)
Child Nodes:
........Barrett Esophagus (D001471) 1
........Deglutition Disorders (D003680) 19
........Diverticulosis, Esophageal (D045723)
........Esophageal and Gastric Varices (D004932)
........Esophageal Atresia (D004933) 2
........Esophageal Cyst (D004934)
........Esophageal Fistula (D004937) 5
........Esophageal Neoplasms (D004938) 4
........Esophageal Perforation (D004939) 2
........Esophageal Stenosis (D004940)
........Esophagitis (D004941) 2
Sister Nodes:
..Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities (C567716)
..Esophageal Diseases (D004935) 46
..Gastroenteritis (D005759) 66
..Gastrointestinal anthrax (C571911)
..Gastrointestinal Hemorrhage (D006471) 3
..Gastrointestinal Neoplasms (D005770) 60
..Intestinal Diseases (D007410) 264
..Peptic Ulcer (D010437) 9
..Siegler Brewer Carey syndrome (C537335)
..Stomach Diseases (D013272) 42
..Tuberculosis, Gastrointestinal (D014385)
..Visceral Prolapse (D014782)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3989
Name:	Esophageal Diseases
Definition:	Pathological processes in the ESOPHAGUS.
Alternative IDs:
ParentIDs:	MESH:D005767
TreeNumbers:	C06.405.117
Synonyms:	Disease, Esophageal \|Diseases, Esophageal \|Esophageal Disease
Slim Mappings:	Digestive system disease
Reference:	MedGen: D004935 MeSH: D004935 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants