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:
Abnormal cellular physiology (HP:0011017)

Grandparent Node:
Abnormal lymphocyte physiology (HP:0031409)

Parent Node:
Abnormality of T cell physiology (HP:0011840)

..Starting node
..Lack of T cell function (HP:0005354)

Term ID:

5354

Name:

Lack of T cell function

Synonym:

Absent cellular immunity

Definition:

Complete inability of T cells to perform their functions in cell-mediated immunity.

Comments:

Reference:

HP:0005354

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal delayed hypersensitivity skin test (HP:0002963)

Abnormal T cell activation (HP:0410035)

Abnormal T cell proliferation (HP:0031379)

Impaired T cell function (HP:0005435)

obsolete Exaggerated cellular immune processes (HP:0005397)

Oligoclonal T cell expansion (HP:0031430)

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:0005354	HP:0005354	Lack of T cell function	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0005354	HP:0005354	Lack of T cell function	0	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia	.	19
HP:0005354	HP:0005354	Lack of T cell function	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040281 - Very frequent	118
HP:0005354	HP:0005354	Lack of T cell function	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040281 - Very frequent	140
HP:0005354	HP:0005354	Lack of T cell function	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040281 - Very frequent	38
HP:0005354	HP:0005354	Lack of T cell function	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040281 - Very frequent	26
HP:0005354	HP:0005354	Lack of T cell function	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040281 - Very frequent	34

Genes (7) :ADA AK2 CIITA JAK3 RFX5 RFXANK RFXAP

Diseases (4) :ORPHA:277 OMIM:267500 ORPHA:572 ORPHA:35078

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