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:
Temporal pattern (HP:0011008)

Parent Node:
Recurrent (HP:0031796)

..Starting node
..Episodic (HP:0025303)

Term ID:

25303

Name:

Episodic

Synonym:

Now and then

Definition:

Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present.

Comments:

Reference:

HP:0025303

Genes and Diseases:

Child Nodes:

Sister Nodes:

Periodic (HP:0025304)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025303	HP:0025303	Episodic	0	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated	16

Genes (1) :PTH

Diseases (1) :OMIM:146200

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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