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
..Borderline (HP:0012827)

Term ID:

12827

Name:

Borderline

Synonym:

Borderline

Definition:

Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean.

Comments:

Reference:

HP:0012827

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mild (HP:0012825)

Moderate (HP:0012826)

Profound (HP:0012829)

Severe (HP:0012828)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012827	HP:0012827	Borderline	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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