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

..Starting node
..Increased proportion of CD8-positive, alpha-beta memory T cells (HP:0410392)

Term ID:

410392

Name:

Increased proportion of CD8-positive, alpha-beta memory T cells

Synonym:

Definition:

An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.

Comments:

Reference:

HP:0410392

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0410392	HP:0410392	Increased proportion of CD8-positive, alpha-beta memory T cells	0	SASH3 CL E G H	54440	15975	OMIM:301082		1
HP:0410392	HP:0410392	Increased proportion of CD8-positive, alpha-beta memory T cells	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B	2
HP:0410392	HP:0410396	Increased proportion of central memory CD8-positive, alpha-beta T cells	1	CL E G H
HP:0410392	HP:0500265	Increased proportion of CD8-positive, alpha-beta TEMRA T cells	1	SASH3 CL E G H	54440	15975	OMIM:301082		1
HP:0410392	HP:0410395	Increased proportion of effector memory CD8-positive, alpha-beta T cells	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B	2

Genes (2) :SASH3 TCF3

Diseases (2) :OMIM:301082 OMIM:619824

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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