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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002571	HP:0002571	Achalasia	0	AAAS CL E G H	8086	869				ORPHA	1	217	13666	605378
HP:0002571	HP:0002571	Achalasia	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1	217	13666	605378
HP:0002571	HP:0002571	Achalasia	0	ACTB CL E G H	60	79107				ORPHA	1	512	132	102630
HP:0002571	HP:0002571	Achalasia	0	ACTB CL E G H	60	607371	Juvenile-onset dystonia	607371	C1846331	OMIM	1	512	132	102630
HP:0002571	HP:0002571	Achalasia	0	CRLF1 CL E G H	9244	930				ORPHA	1	148	2364	604237
HP:0002571	HP:0002571	Achalasia	0	FLVCR1 CL E G H	28982	609033	Posterior column ataxia with retinitis pigmentosa	609033	C1836916	OMIM	1	529	24682	609144
HP:0002571	HP:0002571	Achalasia	0	GMPPA CL E G H	29926	869				ORPHA	1	150	22923	615495
HP:0002571	HP:0002571	Achalasia	0	GMPPA CL E G H	29926	615510	Alacrima, achalasia, and mental retardation syndrome	615510	C3809738	OMIM	1	150	22923	615495
HP:0002571	HP:0002571	Achalasia	0	GUCY1A1 CL E G H	2982	615750	Moyamoya disease 6 with achalasia	615750	C3810403	OMIM	1	102	4685	139396
HP:0002571	HP:0002571	Achalasia	0	HLA-DQA1 CL E G H	3117	930				ORPHA	1	20	4942	146880
HP:0002571	HP:0002571	Achalasia	0	HLA-DQB1 CL E G H	3119	930				ORPHA	1	18	4944	604305
HP:0002571	HP:0002571	Achalasia	0	IARS2 CL E G H	55699	436174				ORPHA	1	464	29685	612801
HP:0002571	HP:0002571	Achalasia	0	NOS1 CL E G H	4842	930				ORPHA	1	122	7872	163731
HP:0002571	HP:0002571	Achalasia	0	TRAPPC11 CL E G H	60684	869				ORPHA	1	983	25751	614138
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002571	HP:0002571	Achalasia	0	GLA CL E G H	2717	324	Slti Salem syndrome			ORPHA	0	1099	4296	300644
HP:0002571	HP:0002571	Achalasia	0	SAMD9 CL E G H	54809	617053	Mirage syndrome	617053	C4284088	OMIM	0	748	1348	610456
HP:0002571	HP:0002571	Achalasia	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	0	983	25751	614138

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.

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