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:
Abnormal peristalsis (HP:0030914)

Parent Node:
Hypoperistalsis (HP:0100771)

..Starting node
..Ineffective esophageal peristalsis (HP:0031857)

Term ID:

31857

Name:

Ineffective esophageal peristalsis

Synonym:

Ineffective esophageal motility

Definition:

Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.

Comments:

Reference:

HP:0031857

Genes and Diseases:

Child Nodes:

........

Achalasia (HP:0002571)

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:0031857	HP:0031857	Ineffective esophageal peristalsis	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome			57
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome			57
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome			24
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2			418
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0031857	HP:0031857	Ineffective esophageal peristalsis	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome			27
HP:0031857	HP:0002571	Achalasia	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.		57
HP:0031857	HP:0002571	Achalasia	1	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040281 - Very frequent		57
HP:0031857	HP:0002571	Achalasia	1	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent		72
HP:0031857	HP:0002571	Achalasia	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.		72
HP:0031857	HP:0002571	Achalasia	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		678
HP:0031857	HP:0002571	Achalasia	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		18
HP:0031857	HP:0002571	Achalasia	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa	.	HP:0011463 - Childhood onset	111
HP:0031857	HP:0002571	Achalasia	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0031857	HP:0002571	Achalasia	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	.		24
HP:0031857	HP:0002571	Achalasia	1	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040281 - Very frequent		24
HP:0031857	HP:0002571	Achalasia	1	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia	.
HP:0031857	HP:0002571	Achalasia	1	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:0031857	HP:0002571	Achalasia	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0031857	HP:0002571	Achalasia	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0031857	HP:0002571	Achalasia	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0031857	HP:0002571	Achalasia	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0031857	HP:0002571	Achalasia	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	HP:0040283 - Occasional		8
HP:0031857	HP:0002571	Achalasia	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0031857	HP:0002571	Achalasia	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	HP:0040283 - Occasional		27
HP:0031857	HP:0002571	Achalasia	1	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040281 - Very frequent		27

Genes (17) :AAAS ACTB COL4A5 COL4A6 FLVCR1 GLA GMPPA GUCY1A1 IARS2 IVNS1ABP MEIS2 MYH11 MYO1H PHOX2B SAMD9 STAT3 TRAPPC11

Diseases (19) :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:619350 OMIM:619482 OMIM:209880 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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