Human Phenotype Ontology

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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

Grandparent Node:
Hypoperistalsis (HP:0100771)

Parent Node:
Ineffective esophageal peristalsis (HP:0031857)

..Starting node
..Achalasia (HP:0002571)

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:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002571	HP:0002571	Achalasia	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.		57
HP:0002571	HP:0002571	Achalasia	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040281 - Very frequent		57
HP:0002571	HP:0002571	Achalasia	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent		72
HP:0002571	HP:0002571	Achalasia	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.		72
HP:0002571	HP:0002571	Achalasia	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		678
HP:0002571	HP:0002571	Achalasia	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		18
HP:0002571	HP:0002571	Achalasia	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa	.	HP:0011463 - Childhood onset	111
HP:0002571	HP:0002571	Achalasia	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0002571	HP:0002571	Achalasia	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	.		24
HP:0002571	HP:0002571	Achalasia	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040281 - Very frequent		24
HP:0002571	HP:0002571	Achalasia	0	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia	.
HP:0002571	HP:0002571	Achalasia	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0002571	HP:0002571	Achalasia	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0002571	HP:0002571	Achalasia	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0002571	HP:0002571	Achalasia	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0002571	HP:0002571	Achalasia	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002571	HP:0002571	Achalasia	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	HP:0040283 - Occasional		8
HP:0002571	HP:0002571	Achalasia	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0002571	HP:0002571	Achalasia	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	HP:0040283 - Occasional		27
HP:0002571	HP:0002571	Achalasia	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040281 - Very frequent		27

Genes (15) :AAAS ACTB COL4A5 COL4A6 FLVCR1 GLA GMPPA GUCY1A1 IARS2 IVNS1ABP MEIS2 MYO1H SAMD9 STAT3 TRAPPC11

Diseases (17) :OMIM:231550 ORPHA:869 ORPHA:79107 OMIM:607371 ORPHA:1018 OMIM:609033 ORPHA:324 OMIM:615510 OMIM:615750 ORPHA:436174 OMIM:616007 OMIM:618969 OMIM:600987 OMIM:619482 OMIM:617053 OMIM:615952 OMIM:615356

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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