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 cell proliferation (HP:0031377)

Grandparent Node:
Abnormal lymphocyte physiology (HP:0031409)

Parent Node:
Abnormal lymphocyte proliferation (HP:0031378)

..Starting node
..Decreased lymphocyte proliferation in response to mitogen (HP:0031381)

Term ID:

31381

Name:

Decreased lymphocyte proliferation in response to mitogen

Synonym:

Reduced lymphocyte proliferation to mitogen

Definition:

A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).

Comments:

Reference:

HP:0031381

Genes and Diseases:

Child Nodes:

........

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

Sister Nodes:

Abnormal B cell proliferation (HP:0031380)

Abnormal T cell proliferation (HP:0031379)

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:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	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:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	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:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	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:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040281 - Very frequent	48
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	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:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	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:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0031381	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040281 - Very frequent	46
HP:0031381	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0031381	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0031381	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0031381	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0031381	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0031381	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89

Genes (24) :CD247 CD27 CD3D CD3E CIITA EXTL3 IL2RA IL2RG IL7R JAK3 KNSTRN MGAT2 PIK3CD PNP RAC2 RAG1 RAG2 RASGRP1 RFX5 RFXANK RFXAP STAT1 SYK ZAP70

Diseases (18) :ORPHA:169160 OMIM:615122 ORPHA:572 ORPHA:508533 OMIM:606367 ORPHA:276 ORPHA:169154 OMIM:600802 ORPHA:35078 ORPHA:221139 ORPHA:79329 OMIM:613179 OMIM:618986 ORPHA:331206 OMIM:618534 OMIM:614162 OMIM:619381 ORPHA:911

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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