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:
Lymphopenia (HP:0001888)

Parent Node:
T lymphocytopenia (HP:0005403)

..Starting node
..Decreased helper T cell proportion (HP:0008165)

Term ID:

8165

Name:

Decreased helper T cell proportion

Synonym:

Decreased proportion circulating T-helper cells; Reduced helper T cell proportion

Definition:

Reduced proportion of helper T cells relative to the total number of T cells.

Comments:

Reference:

HP:0008165

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased proportion of CD3-positive T cells (HP:0045080)

Decreased proportion of CD4-positive helper T cells (HP:0005407)

Decreased proportion of CD8-positive T cells (HP:0005415)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008165	HP:0008165	Decreased helper T cell proportion	0	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.	54

Genes (1) :FOXN1

Diseases (1) :OMIM:601705

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