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:
T lymphocytopenia (HP:0005403)

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

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

Term ID:

5422

Name:

Absence of CD8-positive T cells

Synonym:

Absence of CD8+ T cells

Definition:

Lack of detectible CD8-positive T cells

Comments:

Reference:

HP:0005422

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0005422	HP:0005422	Absence of CD8-positive T cells	0	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial	.	4
HP:0005422	HP:0005422	Absence 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:0005422	HP:0005422	Absence of CD8-positive T cells	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46

Genes (2) :CD8A ZAP70

Diseases (3) :OMIM:608957 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.