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

Term ID:

5415

Name:

Decreased proportion of CD8-positive T cells

Synonym:

CD8+ T-cell lymphopenia; Decreased proportion of CD8+ T cells; Decreased proportion of CD8-positive, alpha-beta T cells

Definition:

A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.

Comments:

Reference:

HP:0005415

Genes and Diseases:

Child Nodes:

........

Absence of CD8-positive T cells (HP:0005422)

Sister Nodes:

Decreased helper T cell proportion (HP:0008165)

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

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

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:0005415	HP:0005415	Decreased proportion of CD8-positive T cells	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	.	19
HP:0005415	HP:0005415	Decreased proportion of CD8-positive T cells	0	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0005415	HP:0005415	Decreased proportion of CD8-positive T cells	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0005415	HP:0005415	Decreased proportion of CD8-positive T cells	0	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0005415	HP:0005415	Decreased proportion of CD8-positive T cells	0	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0005415	HP:0005415	Decreased proportion of CD8-positive T cells	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0005415	HP:0005415	Decreased proportion of CD8-positive T cells	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0005415	HP:0005415	Decreased proportion of CD8-positive T cells	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0005415	HP:0005415	Decreased proportion of CD8-positive T cells	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0005415	HP:0005415	Decreased proportion of CD8-positive T cells	0	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0005415	HP:0005415	Decreased proportion of CD8-positive T cells	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0005415	HP:0005415	Decreased proportion of CD8-positive T cells	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0005415	HP:0005422	Absence of CD8-positive T cells	1	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial	.	4
HP:0005415	HP:0005422	Absence of CD8-positive T cells	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0005415	HP:0005422	Absence of CD8-positive T cells	1	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46

Genes (11) :CD3G CD8A EXTL3 IKBKB IL2RG IL7R NSMCE3 PIK3CG WAS WIPF1 ZAP70

Diseases (12) :OMIM:615607 OMIM:608957 ORPHA:508533 OMIM:618204 OMIM:312863 ORPHA:169154 OMIM:617241 OMIM:619802 OMIM:301000 OMIM:614493 ORPHA:911 OMIM:269840

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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