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:
Lymphopenia (HP:0001888)

Parent Node:
T lymphocytopenia (HP:0005403)

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

Term ID:

45080

Name:

Decreased proportion of CD3-positive T cells

Synonym:

Decreased proportion of CD3+ T cells

Definition:

Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells.

Comments:

Reference:

HP:0045080

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased helper T cell proportion (HP:0008165)

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:0045080	HP:0045080	Decreased proportion of CD3-positive T cells	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	8
HP:0045080	HP:0045080	Decreased proportion of CD3-positive T cells	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	18
HP:0045080	HP:0045080	Decreased proportion of CD3-positive T cells	0	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0045080	HP:0045080	Decreased proportion of CD3-positive T cells	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	24
HP:0045080	HP:0045080	Decreased proportion of CD3-positive T cells	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040283 - Occasional	94
HP:0045080	HP:0045080	Decreased proportion of CD3-positive T cells	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040282 - Frequent	48
HP:0045080	HP:0045080	Decreased proportion of CD3-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:0045080	HP:0045080	Decreased proportion of CD3-positive T cells	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0045080	HP:0045080	Decreased proportion of CD3-positive T cells	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040283 - Occasional	52
HP:0045080	HP:0045080	Decreased proportion of CD3-positive T cells	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0045080	HP:0045080	Decreased proportion of CD3-positive T cells	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50

Genes (10) :CD247 CD3D CD3E DCLRE1C IL2RG IL7R PGM3 PNP RAG1 RAG2

Diseases (8) :ORPHA:169160 OMIM:615615 ORPHA:275 ORPHA:276 ORPHA:169154 ORPHA:443811 ORPHA:760 ORPHA:331206

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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