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 cell proliferation (HP:0031377)

Parent Node:
Abnormal lymphocyte physiology (HP:0031409)

..Starting node
..Abnormal lymphocyte proliferation (HP:0031378)

Term ID:

31378

Name:

Abnormal lymphocyte proliferation

Synonym:

Definition:

Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.

Comments:

Reference:

HP:0031378

Genes and Diseases:

Child Nodes:

........

Abnormal T cell proliferation (HP:0031379)

................... HP:0030253 Defective T cell proliferation
................... HP:0031402 Reduced antigen-specific T cell proliferation

........

Abnormal B cell proliferation (HP:0031380)

........

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

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

Sister Nodes:

Abnormal lymphocyte apoptosis (HP:0030886)

Abnormal natural killer cell physiology (HP:0012177)

Abnormality of T cell physiology (HP:0011840)

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:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0031378	HP:0031378	Abnormal lymphocyte proliferation	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0031378	HP:0031379	Abnormal T cell proliferation	1	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	8
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	18
HP:0031378	HP:0031379	Abnormal T cell proliferation	1	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	24
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0031378	HP:0031379	Abnormal T cell proliferation	1	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0031378	HP:0031379	Abnormal T cell proliferation	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	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:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040281 - Very frequent	140
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0031378	HP:0031379	Abnormal T cell proliferation	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0031378	HP:0031379	Abnormal T cell proliferation	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0031378	HP:0031379	Abnormal T cell proliferation	1	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0031378	HP:0031379	Abnormal T cell proliferation	1	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0031378	HP:0031379	Abnormal T cell proliferation	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0031378	HP:0031379	Abnormal T cell proliferation	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0031378	HP:0031379	Abnormal T cell proliferation	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0031378	HP:0031379	Abnormal T cell proliferation	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0031378	HP:0031380	Abnormal B cell proliferation	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0031378	HP:0031379	Abnormal T cell proliferation	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0031378	HP:0031379	Abnormal T cell proliferation	1	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0031378	HP:0031381	Decreased lymphocyte proliferation in response to mitogen	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040281 - Very frequent	46
HP:0031378	HP:0031402	Reduced antigen-specific T cell proliferation	2	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0031378	HP:0030253	Defective T cell proliferation	2	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18	HP:0040283 - Occasional	24
HP:0031378	HP:0030253	Defective T cell proliferation	2	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0031378	HP:0031402	Reduced antigen-specific T cell proliferation	2	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0031378	HP:0031402	Reduced antigen-specific T cell proliferation	2	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0031378	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0031378	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	2	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0031378	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0031378	HP:0031402	Reduced antigen-specific T cell proliferation	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0031378	HP:0030253	Defective T cell proliferation	2	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0031378	HP:0030253	Defective T cell proliferation	2	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0031378	HP:0031402	Reduced antigen-specific T cell proliferation	2	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0031378	HP:0031402	Reduced antigen-specific T cell proliferation	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0031378	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0031378	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0031378	HP:0031402	Reduced antigen-specific T cell proliferation	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0031378	HP:0031402	Reduced antigen-specific T cell proliferation	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0031378	HP:0030253	Defective T cell proliferation	2	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0031378	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0031378	HP:0030253	Defective T cell proliferation	2	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0031378	HP:0030253	Defective T cell proliferation	2	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6

Genes (36) :CARD11 CD247 CD27 CD3D CD3E CIITA CTPS1 DEF6 DOCK2 EXTL3 IL2RA IL2RG IL7R JAK3 KNSTRN LCP2 LIG1 MGAT2 MRTFA NSMCE3 PGM3 PIK3CD PNP RAC2 RAG1 RAG2 RASGRP1 REL RFX5 RFXANK RFXAP STAT1 SYK TGFB1 WIPF1 ZAP70

Diseases (31) :OMIM:615206 ORPHA:169160 OMIM:615122 OMIM:615615 ORPHA:572 OMIM:615897 OMIM:619573 OMIM:616433 ORPHA:508533 OMIM:606367 ORPHA:276 ORPHA:169154 OMIM:600802 ORPHA:35078 ORPHA:221139 OMIM:619374 OMIM:619774 ORPHA:79329 OMIM:618847 OMIM:617241 ORPHA:443811 OMIM:613179 OMIM:618986 ORPHA:331206 OMIM:618534 OMIM:619652 OMIM:614162 OMIM:619381 OMIM:618213 OMIM:614493 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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