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:
Clinical modifier (HP:0012823)

..Starting node
..Severity (HP:0012824)

Term ID:

12824

Name:

Severity

Synonym:

Intensity

Definition:

The intensity or degree of a manifestation.

Comments:

Reference:

HP:0012824

Genes and Diseases:

Child Nodes:

........

Mild (HP:0012825)

........

Moderate (HP:0012826)

........

Borderline (HP:0012827)

........

Severe (HP:0012828)

........

Profound (HP:0012829)

Sister Nodes:

Aggravated by (HP:0025285)

Ameliorated by (HP:0025254)

Pain characteristic (HP:0025280)

Phenotypic variability (HP:0003812)

Position (HP:0012830)

Refractory (HP:0031375)

Triggered by (HP:0025204)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012824	HP:0012824	Severity	0	CL E G H
HP:0012824	HP:0012825	Mild	1	CL E G H
HP:0012824	HP:0012829	Profound	1	CL E G H
HP:0012824	HP:0012828	Severe	1	CL E G H
HP:0012824	HP:0012827	Borderline	1	CL E G H
HP:0012824	HP:0012826	Moderate	1	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.