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 lymphocyte proliferation (HP:0031378)

Parent Node:
Decreased lymphocyte proliferation in response to mitogen (HP:0031381)

..Starting node
..Decreased lymphocyte proliferation in response to anti-CD3 (HP:0031382)

Term ID:

31382

Name:

Decreased lymphocyte proliferation in response to anti-CD3

Synonym:

Defective lymphocyte proliferation to anti-CD3; Defective proliferation of lymphocytes following anti-CD3 stimulation

Definition:

A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.

Comments:

Reference:

HP:0031382

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:0031382	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0031382	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0031382	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0031382	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0031382	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0031382	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89

Genes (6) :IL2RA JAK3 KNSTRN PIK3CD RAC2 STAT1

Diseases (5) :OMIM:606367 OMIM:600802 ORPHA:221139 OMIM:618986 OMIM:614162

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