achalasia
MONDO:0008698Mondo
Findings
No curated finding names achalasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food.
Definition from the Mondo Disease Ontology (MONDO:0008698), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IRAG1HGNC:7237
- Limited · LiferaOmics · Autosomal recessive · 2026
Where it sits
- A kind of
- Narrower terms (2)
Other names
5 names
Resolves to: achalasia
- Also called
- achalasia (disease)achalasia of cardiaachalasia of oesophaguscardiospasmesophageal achalasia