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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 Motility Disorders (D015154)
..Starting node ..Esophageal Achalasia (D004931)
Child Nodes:
........Achalasia Addisonianism Alacrimia syndrome (C536008)
........Achalasia microcephaly (C536010)
........Achalasia, familial esophageal (C536011)
........Deafness, Congenital, with Vitiligo and Achalasia (C565642)
Sister Nodes:
..CREST Syndrome (D017675)
..Esophageal Achalasia (D004931) 4
..Esophageal Spasm, Diffuse (D015155)
..Gastroesophageal Reflux (D005764) 4
..Plummer-Vinson Syndrome (D011004)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3984
Name:	Esophageal Achalasia
Definition:	A motility disorder of the ESOPHAGUS in which the LOWER ESOPHAGEAL SPHINCTER (near the CARDIA) fails to relax resulting in functional obstruction of the esophagus, and DYSPHAGIA. Achalasia is characterized by a grossly contorted and dilated esophagus (megaesophagus).
Alternative IDs:
ParentIDs:	MESH:D015154
TreeNumbers:	C06.405.117.119.500.432
Synonyms:	Achalasia \|Achalasia, Esophageal \|Achalasias \|Achalasias, Esophageal \|Cardiospasm \|Cardiospasms \|Esophageal Achalasias \|Megaesophagus
Slim Mappings:	Digestive system disease
Reference:	MedGen: D004931 MeSH: D004931 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants