Human Phenotype Ontology 
Grandparent Node:
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Hypoperistalsis (HP:0100771)help
Parent Node:
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Ineffective esophageal peristalsis (HP:0031857)help
..Starting node
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Achalasia (HP:0002571)help
Term ID: 2571
Name: Achalasia
Synonym: Achalasia of the esophagus; Achalasia of the oesophagus
Definition: A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.
Comments:
Reference: HP:0002571
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002571HP:0002571Achalasia0AAAS CL E G H8086869ORPHA117413666605378
HP:0002571HP:0002571Achalasia0AAAS CL E G H8086869ORPHA116213666605378
HP:0002571HP:0002571Achalasia0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM117413666605378
HP:0002571HP:0002571Achalasia0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM116213666605378
HP:0002571HP:0002571Achalasia0ACTB CL E G H6079107ORPHA1349132102630
HP:0002571HP:0002571Achalasia0ACTB CL E G H6079107ORPHA1322132102630
HP:0002571HP:0002571Achalasia0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1349132102630
HP:0002571HP:0002571Achalasia0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1322132102630
HP:0002571HP:0002571Achalasia0CRLF1 CL E G H9244930ORPHA1712364604237
HP:0002571HP:0002571Achalasia0FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM139124682609144
HP:0002571HP:0002571Achalasia0FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM132624682609144
HP:0002571HP:0002571Achalasia0GMPPA CL E G H29926869ORPHA110722923615495
HP:0002571HP:0002571Achalasia0GMPPA CL E G H29926869ORPHA19822923615495
HP:0002571HP:0002571Achalasia0GMPPA CL E G H29926615510Alacrima, achalasia, and mental retardation syndrome615510C3809738OMIM110722923615495
HP:0002571HP:0002571Achalasia0GMPPA CL E G H29926615510Alacrima, achalasia, and mental retardation syndrome615510C3809738OMIM19822923615495
HP:0002571HP:0002571Achalasia0GUCY1A1 CL E G H2982615750Moyamoya disease 6 with achalasia615750C3810403OMIM1694685139396
HP:0002571HP:0002571Achalasia0GUCY1A1 CL E G H2982615750Moyamoya disease 6 with achalasia615750C3810403OMIM1664685139396
HP:0002571HP:0002571Achalasia0HLA-DQA1 CL E G H3117930ORPHA1144942146880
HP:0002571HP:0002571Achalasia0HLA-DQB1 CL E G H3119930ORPHA1124944604305
HP:0002571HP:0002571Achalasia0IARS2 CL E G H55699436174ORPHA117729685612801
HP:0002571HP:0002571Achalasia0IARS2 CL E G H55699436174ORPHA124629685612801
HP:0002571HP:0002571Achalasia0NOS1 CL E G H4842930ORPHA1697872163731
HP:0002571HP:0002571Achalasia0NOS1 CL E G H4842930ORPHA1707872163731
HP:0002571HP:0002571Achalasia0TRAPPC11 CL E G H60684869ORPHA167325751614138
HP:0002571HP:0002571Achalasia0TRAPPC11 CL E G H60684869ORPHA157325751614138
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002571HP:0002571Achalasia0GLA CL E G H2717324Slti Salem syndromeORPHA09484296300644
HP:0002571HP:0002571Achalasia0GLA CL E G H2717324Slti Salem syndromeORPHA08994296300644
HP:0002571HP:0002571Achalasia0SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM03681348610456
HP:0002571HP:0002571Achalasia0SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM01461348610456
HP:0002571HP:0002571Achalasia0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM067325751614138
HP:0002571HP:0002571Achalasia0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM057325751614138


Genes (13) :AAAS ACTB CRLF1 FLVCR1 GLA GMPPA GUCY1A1 HLA-DQA1 HLA-DQB1 IARS2 NOS1 SAMD9 TRAPPC11

Diseases (12) :869 231550 79107 607371 930 609033 324 615510 615750 436174 617053 615356
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.