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:
All (HP:0000001)

Parent Node:
Frequency (HP:0040279)

..Starting node
..Occasional (HP:0040283)

Term ID:

40283

Name:

Occasional

Synonym:

Occasional (29-5%)

Definition:

Present in 5% to 29% of the cases.

Comments:

Reference:

HP:0040283

Genes and Diseases:

Child Nodes:

Sister Nodes:

Excluded (HP:0040285)

Frequent (HP:0040282)

Obligate (HP:0040280)

Very frequent (HP:0040281)

Very rare (HP:0040284)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040283	HP:0040283	Occasional	0	CL E G H

Genes (0) :

Diseases (0) :

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