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:
Clinical course (HP:0031797)

Parent Node:
Temporal pattern (HP:0011008)

..Starting node
..Recurrent (HP:0031796)

Term ID:

31796

Name:

Recurrent

Synonym:

Intermittent

Definition:

Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present.

Comments:

Reference:

HP:0031796

Genes and Diseases:

Child Nodes:

........

Episodic (HP:0025303)

........

Periodic (HP:0025304)

................... HP:0025305 Quotidian

Sister Nodes:

Acute (HP:0011009)

Chronic (HP:0011010)

Diurnal (HP:0025302)

Insidious onset (HP:0003587)

Migratory (HP:0025279)

Nocturnal (HP:0025301)

Prolonged (HP:0025297)

Subacute (HP:0011011)

Transient (HP:0025153)

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:0031796	HP:0031796	Recurrent	0	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion		1
HP:0031796	HP:0031796	Recurrent	0	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.	120
HP:0031796	HP:0031796	Recurrent	0	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.	162
HP:0031796	HP:0031796	Recurrent	0	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.	156
HP:0031796	HP:0031796	Recurrent	0	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated		16
HP:0031796	HP:0031796	Recurrent	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0031796	HP:0025304	Periodic	1	CL E G H
HP:0031796	HP:0033349	Seizure cluster	1	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion	HP:0040282 - Frequent	1
HP:0031796	HP:0025303	Episodic	1	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated		16
HP:0031796	HP:0033349	Seizure cluster	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0031796	HP:0025305	Quotidian	2	CL E G H

Genes (6) :ADORA2A BCKDHA BCKDHB DBT PTH SMC1A

Diseases (4) :ORPHA:363549 OMIM:248600 OMIM:146200 OMIM:301044

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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