Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 modifier (HP:0012823)

Parent Node:
Severity (HP:0012824)

..Starting node
..Severe (HP:0012828)

Term ID:

12828

Name:

Severe

Synonym:

Severe

Definition:

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean.

Comments:

Reference:

HP:0012828

Genes and Diseases:

Child Nodes:

Sister Nodes:

Borderline (HP:0012827)

Mild (HP:0012825)

Moderate (HP:0012826)

Profound (HP:0012829)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012828	HP:0012828	Severe	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.

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