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 morphology (HP:0004332)

Grandparent Node:
Leukopenia (HP:0001882)

Parent Node:
Lymphopenia (HP:0001888)

..Starting node
..T lymphocytopenia (HP:0005403)

Term ID:

5403

Name:

T lymphocytopenia

Synonym:

Decrease in T cell count; Decrease in T cell number; Decreased numbers of circulating T cells; Low T cell count; Reduced number of T cells

Definition:

An abnormally low count of T cells.

Comments:

Reference:

HP:0005403

Genes and Diseases:

Child Nodes:

........

Decreased proportion of CD4-positive T cells (HP:0005407)

........

Decreased proportion of CD8-positive T cells (HP:0005415)

................... HP:0005422 Absence of CD8-positive T cells

........

Decreased proportion circulating T-helper cells (HP:0008165)

........

Decreased proportion of CD3-positive T cells (HP:0045080)

Sister Nodes:

B lymphocytopenia (HP:0010976)

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:0005403	HP:0005403	T lymphocytopenia	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0005403	HP:0005403	T lymphocytopenia	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0005403	HP:0005403	T lymphocytopenia	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0005403	HP:0005403	T lymphocytopenia	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0005403	HP:0005403	T lymphocytopenia	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0005403	HP:0005403	T lymphocytopenia	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0005403	HP:0005403	T lymphocytopenia	0	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0005403	HP:0005403	T lymphocytopenia	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0005403	HP:0005403	T lymphocytopenia	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0005403	HP:0005403	T lymphocytopenia	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0005403	HP:0005403	T lymphocytopenia	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0005403	HP:0005403	T lymphocytopenia	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0005403	HP:0005403	T lymphocytopenia	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0005403	HP:0005403	T lymphocytopenia	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0005403	HP:0005403	T lymphocytopenia	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0005403	HP:0005403	T lymphocytopenia	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0005403	HP:0005403	T lymphocytopenia	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0005403	HP:0005403	T lymphocytopenia	0	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency	HP:0040281 - Very frequent	54
HP:0005403	HP:0005403	T lymphocytopenia	0	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.	54
HP:0005403	HP:0005403	T lymphocytopenia	0	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0005403	HP:0005403	T lymphocytopenia	0	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0005403	HP:0005403	T lymphocytopenia	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0005403	HP:0005403	T lymphocytopenia	0	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0005403	HP:0005403	T lymphocytopenia	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0005403	HP:0005403	T lymphocytopenia	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0005403	HP:0005403	T lymphocytopenia	0	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0005403	HP:0005403	T lymphocytopenia	0	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive		94
HP:0005403	HP:0005403	T lymphocytopenia	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:0005403	HP:0005403	T lymphocytopenia	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0005403	HP:0005403	T lymphocytopenia	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0005403	HP:0005403	T lymphocytopenia	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0005403	HP:0005403	T lymphocytopenia	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:0005403	HP:0005403	T lymphocytopenia	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0005403	HP:0005403	T lymphocytopenia	0	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0005403	HP:0005403	T lymphocytopenia	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0005403	HP:0005403	T lymphocytopenia	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0005403	HP:0005403	T lymphocytopenia	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0005403	HP:0005403	T lymphocytopenia	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0005403	HP:0005403	T lymphocytopenia	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0005403	HP:0005403	T lymphocytopenia	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0005403	HP:0005403	T lymphocytopenia	0	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0005403	HP:0005403	T lymphocytopenia	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0005403	HP:0005403	T lymphocytopenia	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0005403	HP:0005403	T lymphocytopenia	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0005403	HP:0005403	T lymphocytopenia	0	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0005403	HP:0005403	T lymphocytopenia	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0005403	HP:0005403	T lymphocytopenia	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0005403	HP:0005403	T lymphocytopenia	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0005403	HP:0005403	T lymphocytopenia	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0005403	HP:0005403	T lymphocytopenia	0	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	127
HP:0005403	HP:0005403	T lymphocytopenia	0	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040281 - Very frequent	127
HP:0005403	HP:0005403	T lymphocytopenia	0	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	127
HP:0005403	HP:0005403	T lymphocytopenia	0	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	50
HP:0005403	HP:0005403	T lymphocytopenia	0	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	50
HP:0005403	HP:0005403	T lymphocytopenia	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0005403	HP:0005403	T lymphocytopenia	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0005403	HP:0005403	T lymphocytopenia	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0005403	HP:0005403	T lymphocytopenia	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0005403	HP:0005403	T lymphocytopenia	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0005403	HP:0005403	T lymphocytopenia	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0005403	HP:0005403	T lymphocytopenia	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent	49
HP:0005403	HP:0005403	T lymphocytopenia	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0005403	HP:0005403	T lymphocytopenia	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0005403	HP:0005403	T lymphocytopenia	0	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0005403	HP:0005403	T lymphocytopenia	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0005403	HP:0005403	T lymphocytopenia	0	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0005403	HP:0005403	T lymphocytopenia	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0005403	HP:0005403	T lymphocytopenia	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0005403	HP:0005415	Decreased proportion of CD8-positive T cells	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	.	19
HP:0005403	HP:0005415	Decreased proportion of CD8-positive T cells	1	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0005403	HP:0005415	Decreased proportion of CD8-positive T cells	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0005403	HP:0008165	Decreased helper T cell proportion	1	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.	54
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0005403	HP:0005415	Decreased proportion of CD8-positive T cells	1	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0005403	HP:0005415	Decreased proportion of CD8-positive T cells	1	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	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:0005403	HP:0005415	Decreased proportion of CD8-positive T cells	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:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	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:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22	.	1
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional	11
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0005403	HP:0005415	Decreased proportion of CD8-positive T cells	1	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040281 - Very frequent	15
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0005403	HP:0005415	Decreased proportion of CD8-positive T cells	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0005403	HP:0005415	Decreased proportion of CD8-positive T cells	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0005403	HP:0005407	Decreased proportion of CD4-positive helper T cells	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0005403	HP:0005415	Decreased proportion of CD8-positive T cells	1	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0005403	HP:0005415	Decreased proportion of CD8-positive T cells	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0005403	HP:0005415	Decreased proportion of CD8-positive T cells	1	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0005403	HP:0005422	Absence of CD8-positive T cells	2	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial	.	4
HP:0005403	HP:0005422	Absence of CD8-positive T cells	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0005403	HP:0005422	Absence of CD8-positive T cells	2	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46

Genes (56) :ACP5 ADA ATM CASP10 CD247 CD3G CD8A CIITA DNMT3B DOCK2 DOCK8 EPG5 EXTL3 FAS FASLG FCHO1 FOXN1 IKBKB IL2RA IL2RG IL7 IL7R ITK IVNS1ABP JAK3 KNSTRN LCK LEP LEPR MAGT1 MCM10 MYC NBN NHEJ1 NSMCE3 PGM3 PIK3CD PIK3CG PRKCD PTPRC RAC2 RAG1 RAG2 RASGRP1 RFX5 RFXANK RFXAP RIPK1 SASH3 SP110 SYK TOM1 UNC119 WAS WIPF1 ZAP70

Diseases (58) :OMIM:607944 ORPHA:277 OMIM:208900 ORPHA:3261 OMIM:610163 OMIM:615607 OMIM:608957 ORPHA:572 OMIM:242860 OMIM:616433 ORPHA:217390 OMIM:243700 OMIM:242840 ORPHA:508533 OMIM:619164 ORPHA:169095 OMIM:601705 OMIM:618806 OMIM:618204 OMIM:606367 OMIM:312863 OMIM:300400 ORPHA:276 OMIM:618309 OMIM:608971 ORPHA:169154 OMIM:613011 OMIM:618969 OMIM:600802 ORPHA:35078 ORPHA:221139 OMIM:615758 ORPHA:66628 ORPHA:179494 OMIM:300853 OMIM:619313 ORPHA:543 OMIM:251260 ORPHA:169079 OMIM:617241 ORPHA:443811 OMIM:615513 OMIM:619802 OMIM:619924 OMIM:618986 OMIM:233650 ORPHA:231154 OMIM:601457 OMIM:618108 OMIM:301082 ORPHA:79124 OMIM:619381 OMIM:619510 OMIM:615518 OMIM:301000 OMIM:614493 ORPHA:911 OMIM:269840

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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