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:
Functional abnormality of the gastrointestinal tract (HP:0012719)

Parent Node:
Abnormal esophagus physiology (HP:0025270)

..Starting node
..Esophageal spasms (HP:0025271)

Term ID:

25271

Name:

Esophageal spasms

Synonym:

Definition:

Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful.

Comments:

Reference:

HP:0025271

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dysphagia (HP:0002015)

Gastroesophageal reflux (HP:0002020)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025271	HP:0025271	Esophageal spasms	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040284 - Very rare	46

Genes (1) :PIGA

Diseases (1) :ORPHA:447

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