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:
Abnormality of immune system physiology (HP:0010978)

Parent Node:
Abnormal T cell proliferation (HP:0031379)

Parent Node:
Impaired antigen-specific response (HP:0031404)

..Starting node
..Reduced antigen-specific T cell proliferation (HP:0031402)

Term ID:

31402

Name:

Reduced antigen-specific T cell proliferation

Synonym:

Antigen-specific T cell proliferation defect; Impaired activated T cell proliferation; Impaired Ag-specific T cell proliferation; Impaired cellular adaptive immune response

Definition:

Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.

Comments:

Reference:

HP:0031402

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased circulating level of specific antibody (HP:0012475)

Impaired pathogen-specific CD8 cytoxicity (HP:0031403)

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:0031402	HP:0031402	Reduced antigen-specific T cell proliferation	0	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0031402	HP:0031402	Reduced antigen-specific T cell proliferation	0	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0031402	HP:0031402	Reduced antigen-specific T cell proliferation	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0031402	HP:0031402	Reduced antigen-specific T cell proliferation	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0031402	HP:0031402	Reduced antigen-specific T cell proliferation	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0031402	HP:0031402	Reduced antigen-specific T cell proliferation	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0031402	HP:0031402	Reduced antigen-specific T cell proliferation	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0031402	HP:0031402	Reduced antigen-specific T cell proliferation	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50

Genes (8) :CARD11 CTPS1 DOCK2 LCP2 NSMCE3 PGM3 RAG1 RAG2

Diseases (7) :OMIM:615206 OMIM:615897 OMIM:616433 OMIM:619374 OMIM:617241 ORPHA:443811 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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