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 leukocyte count (HP:0011893)

Parent Node:
Abnormal lymphocyte morphology (HP:0004332)

Parent Node:
Leukopenia (HP:0001882)

..Starting node
..Lymphopenia (HP:0001888)

Term ID:

1888

Name:

Lymphopenia

Synonym:

Absolute lymphocyte count decrease; Decreased blood lymphocyte number; Low lymphocyte number; Lymphocytopenia

Definition:

A reduced number of lymphocytes in the blood.

Comments:

Reference:

HP:0001888

Genes and Diseases:

Child Nodes:

........

Decrease in T cell count (HP:0005403)

................... HP:0005407 Decreased proportion of CD4-positive T cells
................... HP:0005415 Decreased proportion of CD8-positive T cells
................... HP:0008165 Decreased proportion circulating T-helper cells
................... HP:0045080 Decreased proportion of CD3-positive T cells

........

B lymphocytopenia (HP:0010976)

................... HP:0005365 Severe B lymphocytopenia
................... HP:0030252 Absence of mature B cells

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:0001888	HP:0001888	Lymphopenia	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001888	HP:0001888	Lymphopenia	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0001888	HP:0001888	Lymphopenia	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0001888	HP:0001888	Lymphopenia	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0001888	HP:0001888	Lymphopenia	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0001888	HP:0001888	Lymphopenia	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	1
HP:0001888	HP:0001888	Lymphopenia	0	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001888	HP:0001888	Lymphopenia	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001888	HP:0001888	Lymphopenia	0	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0001888	HP:0001888	Lymphopenia	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0001888	HP:0001888	Lymphopenia	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0001888	HP:0001888	Lymphopenia	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001888	HP:0001888	Lymphopenia	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001888	HP:0001888	Lymphopenia	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0001888	HP:0001888	Lymphopenia	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0001888	HP:0001888	Lymphopenia	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001888	HP:0001888	Lymphopenia	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001888	HP:0001888	Lymphopenia	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0001888	HP:0001888	Lymphopenia	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0001888	HP:0001888	Lymphopenia	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	147
HP:0001888	HP:0001888	Lymphopenia	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	38
HP:0001888	HP:0001888	Lymphopenia	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001888	HP:0001888	Lymphopenia	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:0001888	HP:0001888	Lymphopenia	0	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19	.	18
HP:0001888	HP:0001888	Lymphopenia	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:0001888	HP:0001888	Lymphopenia	0	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18	HP:0040284 - Very rare	24
HP:0001888	HP:0001888	Lymphopenia	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:0001888	HP:0001888	Lymphopenia	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0001888	HP:0001888	Lymphopenia	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0001888	HP:0001888	Lymphopenia	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0001888	HP:0001888	Lymphopenia	0	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0001888	HP:0001888	Lymphopenia	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	4
HP:0001888	HP:0001888	Lymphopenia	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001888	HP:0001888	Lymphopenia	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0001888	HP:0001888	Lymphopenia	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001888	HP:0001888	Lymphopenia	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	38
HP:0001888	HP:0001888	Lymphopenia	0	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8	.	7
HP:0001888	HP:0001888	Lymphopenia	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0001888	HP:0001888	Lymphopenia	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0001888	HP:0001888	Lymphopenia	0	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001888	HP:0001888	Lymphopenia	0	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0001888	HP:0001888	Lymphopenia	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040281 - Very frequent	9
HP:0001888	HP:0001888	Lymphopenia	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001888	HP:0001888	Lymphopenia	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0001888	HP:0001888	Lymphopenia	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001888	HP:0001888	Lymphopenia	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001888	HP:0001888	Lymphopenia	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	79
HP:0001888	HP:0001888	Lymphopenia	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0001888	HP:0001888	Lymphopenia	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40	.	6
HP:0001888	HP:0001888	Lymphopenia	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0001888	HP:0001888	Lymphopenia	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001888	HP:0001888	Lymphopenia	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	79
HP:0001888	HP:0001888	Lymphopenia	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional	79
HP:0001888	HP:0001888	Lymphopenia	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001888	HP:0001888	Lymphopenia	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0001888	HP:0001888	Lymphopenia	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0001888	HP:0001888	Lymphopenia	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0001888	HP:0001888	Lymphopenia	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0001888	HP:0001888	Lymphopenia	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	114
HP:0001888	HP:0001888	Lymphopenia	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0001888	HP:0001888	Lymphopenia	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001888	HP:0001888	Lymphopenia	0	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0001888	HP:0001888	Lymphopenia	0	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0001888	HP:0001888	Lymphopenia	0	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0001888	HP:0001888	Lymphopenia	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0001888	HP:0001888	Lymphopenia	0	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0001888	HP:0001888	Lymphopenia	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	56
HP:0001888	HP:0001888	Lymphopenia	0	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001888	HP:0001888	Lymphopenia	0	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001888	HP:0001888	Lymphopenia	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001888	HP:0001888	Lymphopenia	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	6
HP:0001888	HP:0001888	Lymphopenia	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0001888	HP:0001888	Lymphopenia	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001888	HP:0001888	Lymphopenia	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0001888	HP:0001888	Lymphopenia	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0001888	HP:0001888	Lymphopenia	0	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0001888	HP:0001888	Lymphopenia	0	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001888	HP:0001888	Lymphopenia	0	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001888	HP:0001888	Lymphopenia	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0001888	HP:0001888	Lymphopenia	0	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0001888	HP:0001888	Lymphopenia	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001888	HP:0001888	Lymphopenia	0	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0001888	HP:0001888	Lymphopenia	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0001888	HP:0001888	Lymphopenia	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:0001888	HP:0001888	Lymphopenia	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001888	HP:0001888	Lymphopenia	0	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0001888	HP:0001888	Lymphopenia	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:0001888	HP:0001888	Lymphopenia	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:0001888	HP:0001888	Lymphopenia	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0001888	HP:0001888	Lymphopenia	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	4
HP:0001888	HP:0001888	Lymphopenia	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001888	HP:0001888	Lymphopenia	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001888	HP:0001888	Lymphopenia	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0001888	HP:0001888	Lymphopenia	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040282 - Frequent	140
HP:0001888	HP:0001888	Lymphopenia	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001888	HP:0001888	Lymphopenia	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0001888	HP:0001888	Lymphopenia	0	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0001888	HP:0001888	Lymphopenia	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0001888	HP:0001888	Lymphopenia	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0001888	HP:0001888	Lymphopenia	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001888	HP:0001888	Lymphopenia	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:0001888	HP:0001888	Lymphopenia	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001888	HP:0001888	Lymphopenia	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0001888	HP:0001888	Lymphopenia	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0001888	HP:0001888	Lymphopenia	0	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50	.	2
HP:0001888	HP:0001888	Lymphopenia	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0001888	HP:0001888	Lymphopenia	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0001888	HP:0001888	Lymphopenia	0	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0001888	HP:0001888	Lymphopenia	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0001888	HP:0001888	Lymphopenia	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0001888	HP:0001888	Lymphopenia	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	7
HP:0001888	HP:0001888	Lymphopenia	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	11
HP:0001888	HP:0001888	Lymphopenia	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0001888	HP:0001888	Lymphopenia	0	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0001888	HP:0001888	Lymphopenia	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001888	HP:0001888	Lymphopenia	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0001888	HP:0001888	Lymphopenia	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001888	HP:0001888	Lymphopenia	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0001888	HP:0001888	Lymphopenia	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0001888	HP:0001888	Lymphopenia	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001888	HP:0001888	Lymphopenia	0	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001888	HP:0001888	Lymphopenia	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001888	HP:0001888	Lymphopenia	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001888	HP:0001888	Lymphopenia	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	.	43
HP:0001888	HP:0001888	Lymphopenia	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0001888	HP:0001888	Lymphopenia	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040283 - Occasional	52
HP:0001888	HP:0001888	Lymphopenia	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001888	HP:0001888	Lymphopenia	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001888	HP:0001888	Lymphopenia	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0001888	HP:0001888	Lymphopenia	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0001888	HP:0001888	Lymphopenia	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0001888	HP:0001888	Lymphopenia	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0001888	HP:0001888	Lymphopenia	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	HP:0040284 - Very rare	948
HP:0001888	HP:0001888	Lymphopenia	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	HP:0040284 - Very rare	948
HP:0001888	HP:0001888	Lymphopenia	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001888	HP:0001888	Lymphopenia	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001888	HP:0001888	Lymphopenia	0	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0001888	HP:0001888	Lymphopenia	0	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0001888	HP:0001888	Lymphopenia	0	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001888	HP:0001888	Lymphopenia	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0001888	HP:0001888	Lymphopenia	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0001888	HP:0001888	Lymphopenia	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:0001888	HP:0001888	Lymphopenia	0	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0001888	HP:0001888	Lymphopenia	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0001888	HP:0001888	Lymphopenia	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0001888	HP:0001888	Lymphopenia	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:0001888	HP:0001888	Lymphopenia	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0001888	HP:0001888	Lymphopenia	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001888	HP:0001888	Lymphopenia	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0001888	HP:0001888	Lymphopenia	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0001888	HP:0001888	Lymphopenia	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0001888	HP:0001888	Lymphopenia	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001888	HP:0001888	Lymphopenia	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0001888	HP:0001888	Lymphopenia	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0001888	HP:0001888	Lymphopenia	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0001888	HP:0001888	Lymphopenia	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0001888	HP:0001888	Lymphopenia	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001888	HP:0001888	Lymphopenia	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.	8
HP:0001888	HP:0001888	Lymphopenia	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0001888	HP:0001888	Lymphopenia	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0001888	HP:0001888	Lymphopenia	0	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001888	HP:0001888	Lymphopenia	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0001888	HP:0001888	Lymphopenia	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0001888	HP:0001888	Lymphopenia	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0001888	HP:0001888	Lymphopenia	0	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001888	HP:0001888	Lymphopenia	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0001888	HP:0001888	Lymphopenia	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001888	HP:0001888	Lymphopenia	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0001888	HP:0001888	Lymphopenia	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0001888	HP:0001888	Lymphopenia	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	.	89
HP:0001888	HP:0001888	Lymphopenia	0	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0001888	HP:0001888	Lymphopenia	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent	2
HP:0001888	HP:0001888	Lymphopenia	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0001888	HP:0001888	Lymphopenia	0	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS	.	4
HP:0001888	HP:0001888	Lymphopenia	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001888	HP:0001888	Lymphopenia	0	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0001888	HP:0001888	Lymphopenia	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001888	HP:0001888	Lymphopenia	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	82
HP:0001888	HP:0001888	Lymphopenia	0	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040282 - Frequent	57
HP:0001888	HP:0001888	Lymphopenia	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	48
HP:0001888	HP:0001888	Lymphopenia	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	238
HP:0001888	HP:0001888	Lymphopenia	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.	67
HP:0001888	HP:0001888	Lymphopenia	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	60
HP:0001888	HP:0001888	Lymphopenia	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0001888	HP:0001888	Lymphopenia	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001888	HP:0001888	Lymphopenia	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0001888	HP:0001888	Lymphopenia	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0001888	HP:0001888	Lymphopenia	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	12
HP:0001888	HP:0001888	Lymphopenia	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0001888	HP:0001888	Lymphopenia	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0001888	HP:0001888	Lymphopenia	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001888	HP:0001888	Lymphopenia	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001888	HP:0001888	Lymphopenia	0	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0040281 - Very frequent
HP:0001888	HP:0001888	Lymphopenia	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0001888	HP:0001888	Lymphopenia	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0001888	HP:0001888	Lymphopenia	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0001888	HP:0001888	Lymphopenia	0	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001888	HP:0001888	Lymphopenia	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001888	HP:0001888	Lymphopenia	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001888	HP:0001888	Lymphopenia	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0001888	HP:0001888	Lymphopenia	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	65
HP:0001888	HP:0001888	Lymphopenia	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001888	HP:0001888	Lymphopenia	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	6
HP:0001888	HP:0001888	Lymphopenia	0	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0001888	HP:0001888	Lymphopenia	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0001888	HP:0001888	Lymphopenia	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001888	HP:0001888	Lymphopenia	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0001888	HP:0001888	Lymphopenia	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	9
HP:0001888	HP:0005403	T lymphocytopenia	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0001888	HP:0010976	B lymphocytopenia	1	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0001888	HP:0005403	T lymphocytopenia	1	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0001888	HP:0010976	B lymphocytopenia	1	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0001888	HP:0010976	B lymphocytopenia	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0001888	HP:0010976	B lymphocytopenia	1	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0001888	HP:0005403	T lymphocytopenia	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0001888	HP:0010976	B lymphocytopenia	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001888	HP:0010976	B lymphocytopenia	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0001888	HP:0010976	B lymphocytopenia	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001888	HP:0010976	B lymphocytopenia	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0001888	HP:0005403	T lymphocytopenia	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001888	HP:0005403	T lymphocytopenia	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001888	HP:0005403	T lymphocytopenia	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0001888	HP:0010976	B lymphocytopenia	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0001888	HP:0005403	T lymphocytopenia	1	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0001888	HP:0005403	T lymphocytopenia	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0001888	HP:0010976	B lymphocytopenia	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0001888	HP:0010976	B lymphocytopenia	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001888	HP:0005403	T lymphocytopenia	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0001888	HP:0005403	T lymphocytopenia	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0001888	HP:0005403	T lymphocytopenia	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0001888	HP:0010976	B lymphocytopenia	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0001888	HP:0005403	T lymphocytopenia	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001888	HP:0005403	T lymphocytopenia	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001888	HP:0005403	T lymphocytopenia	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0001888	HP:0005403	T lymphocytopenia	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001888	HP:0005403	T lymphocytopenia	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001888	HP:0005403	T lymphocytopenia	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0001888	HP:0010976	B lymphocytopenia	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0001888	HP:0010976	B lymphocytopenia	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001888	HP:0005403	T lymphocytopenia	1	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency	HP:0040281 - Very frequent	54
HP:0001888	HP:0005403	T lymphocytopenia	1	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.	54
HP:0001888	HP:0005403	T lymphocytopenia	1	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0001888	HP:0010976	B lymphocytopenia	1	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant	.	56
HP:0001888	HP:0010976	B lymphocytopenia	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001888	HP:0010976	B lymphocytopenia	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0001888	HP:0010976	B lymphocytopenia	1	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0001888	HP:0005403	T lymphocytopenia	1	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001888	HP:0010976	B lymphocytopenia	1	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001888	HP:0010976	B lymphocytopenia	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0001888	HP:0010976	B lymphocytopenia	1	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0001888	HP:0005403	T lymphocytopenia	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001888	HP:0010976	B lymphocytopenia	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001888	HP:0005403	T lymphocytopenia	1	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0001888	HP:0005403	T lymphocytopenia	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0001888	HP:0005403	T lymphocytopenia	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0001888	HP:0005403	T lymphocytopenia	1	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0001888	HP:0005403	T lymphocytopenia	1	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:0001888	HP:0005403	T lymphocytopenia	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:0001888	HP:0005403	T lymphocytopenia	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001888	HP:0005403	T lymphocytopenia	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001888	HP:0010976	B lymphocytopenia	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001888	HP:0005403	T lymphocytopenia	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0001888	HP:0005403	T lymphocytopenia	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:0001888	HP:0010976	B lymphocytopenia	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040283 - Occasional	140
HP:0001888	HP:0010976	B lymphocytopenia	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0001888	HP:0005403	T lymphocytopenia	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001888	HP:0005403	T lymphocytopenia	1	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0001888	HP:0005403	T lymphocytopenia	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0001888	HP:0005403	T lymphocytopenia	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0001888	HP:0010976	B lymphocytopenia	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001888	HP:0005403	T lymphocytopenia	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:0001888	HP:0010976	B lymphocytopenia	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001888	HP:0005403	T lymphocytopenia	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001888	HP:0005403	T lymphocytopenia	1	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0001888	HP:0010976	B lymphocytopenia	1	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0001888	HP:0010976	B lymphocytopenia	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0001888	HP:0010976	B lymphocytopenia	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0001888	HP:0005403	T lymphocytopenia	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0001888	HP:0010976	B lymphocytopenia	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0001888	HP:0005403	T lymphocytopenia	1	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0001888	HP:0010976	B lymphocytopenia	1	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0001888	HP:0005403	T lymphocytopenia	1	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0001888	HP:0005403	T lymphocytopenia	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0001888	HP:0010976	B lymphocytopenia	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0001888	HP:0005403	T lymphocytopenia	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001888	HP:0005403	T lymphocytopenia	1	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001888	HP:0010976	B lymphocytopenia	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001888	HP:0005403	T lymphocytopenia	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001888	HP:0010976	B lymphocytopenia	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001888	HP:0010976	B lymphocytopenia	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001888	HP:0010976	B lymphocytopenia	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001888	HP:0005403	T lymphocytopenia	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001888	HP:0005403	T lymphocytopenia	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001888	HP:0010976	B lymphocytopenia	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001888	HP:0005403	T lymphocytopenia	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001888	HP:0010976	B lymphocytopenia	1	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0001888	HP:0005403	T lymphocytopenia	1	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	127
HP:0001888	HP:0010976	B lymphocytopenia	1	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	127
HP:0001888	HP:0005403	T lymphocytopenia	1	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040281 - Very frequent	127
HP:0001888	HP:0010976	B lymphocytopenia	1	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040281 - Very frequent	127
HP:0001888	HP:0010976	B lymphocytopenia	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0001888	HP:0010976	B lymphocytopenia	1	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:0001888	HP:0005403	T lymphocytopenia	1	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:0001888	HP:0010976	B lymphocytopenia	1	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	50
HP:0001888	HP:0005403	T lymphocytopenia	1	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	50
HP:0001888	HP:0010976	B lymphocytopenia	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0001888	HP:0010976	B lymphocytopenia	1	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:0001888	HP:0005403	T lymphocytopenia	1	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:0001888	HP:0005403	T lymphocytopenia	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001888	HP:0010976	B lymphocytopenia	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001888	HP:0005403	T lymphocytopenia	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0001888	HP:0005403	T lymphocytopenia	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0001888	HP:0005403	T lymphocytopenia	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0001888	HP:0010976	B lymphocytopenia	1	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001888	HP:0005403	T lymphocytopenia	1	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001888	HP:0005403	T lymphocytopenia	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001888	HP:0010976	B lymphocytopenia	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001888	HP:0010976	B lymphocytopenia	1	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001888	HP:0005403	T lymphocytopenia	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent	49
HP:0001888	HP:0010976	B lymphocytopenia	1	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001888	HP:0010976	B lymphocytopenia	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0001888	HP:0005403	T lymphocytopenia	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001888	HP:0010976	B lymphocytopenia	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001888	HP:0010976	B lymphocytopenia	1	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0001888	HP:0010976	B lymphocytopenia	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001888	HP:0010976	B lymphocytopenia	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001888	HP:0010976	B lymphocytopenia	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0001888	HP:0005403	T lymphocytopenia	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001888	HP:0010976	B lymphocytopenia	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0001888	HP:0010976	B lymphocytopenia	1	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001888	HP:0005403	T lymphocytopenia	1	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001888	HP:0005403	T lymphocytopenia	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001888	HP:0010976	B lymphocytopenia	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001888	HP:0005403	T lymphocytopenia	1	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0001888	HP:0005403	T lymphocytopenia	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001888	HP:0005403	T lymphocytopenia	1	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0001888	HP:0030251	Absence of memory B cells	2	CL E G H
HP:0001888	HP:0005365	Severe B lymphocytopenia	2	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0001888	HP:0030252	Absent circulating B cells	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0001888	HP:0005415	Decreased proportion of CD8-positive T cells	2	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	.	19
HP:0001888	HP:0005415	Decreased proportion of CD8-positive T cells	2	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0001888	HP:0005365	Severe B lymphocytopenia	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0001888	HP:0005415	Decreased proportion of CD8-positive T cells	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0001888	HP:0030252	Absent circulating B cells	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001888	HP:0008165	Decreased helper T cell proportion	2	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.	54
HP:0001888	HP:0030252	Absent circulating B cells	2	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0001888	HP:0005415	Decreased proportion of CD8-positive T cells	2	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001888	HP:0005415	Decreased proportion of CD8-positive T cells	2	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	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:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0001888	HP:0005415	Decreased proportion of CD8-positive T cells	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22	.	1
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional	11
HP:0001888	HP:0005365	Severe B lymphocytopenia	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0001888	HP:0005415	Decreased proportion of CD8-positive T cells	2	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040281 - Very frequent	15
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0001888	HP:0005415	Decreased proportion of CD8-positive T cells	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001888	HP:0005365	Severe B lymphocytopenia	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0001888	HP:0005365	Severe B lymphocytopenia	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0001888	HP:0005365	Severe B lymphocytopenia	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001888	HP:0030252	Absent circulating B cells	2	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001888	HP:0030252	Absent circulating B cells	2	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001888	HP:0005415	Decreased proportion of CD8-positive T cells	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001888	HP:0005407	Decreased proportion of CD4-positive helper T cells	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001888	HP:0005415	Decreased proportion of CD8-positive T cells	2	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0001888	HP:0005415	Decreased proportion 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:0001888	HP:0005415	Decreased proportion of CD8-positive T cells	2	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0001888	HP:0005422	Absence of CD8-positive T cells	3	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial	.	4
HP:0001888	HP:0005422	Absence of CD8-positive T cells	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0001888	HP:0005422	Absence of CD8-positive T cells	3	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46

Genes (166) :ACP5 ADA ADA2 ADAMTS3 AK2 ALG12 ARHGEF1 ATM ATP11A ATRX B2M BCL11B BRAF BTK CASP10 CCBE1 CD19 CD247 CD3D CD3E CD3G CD79B CD81 CD8A CDCA7 CDH23 CHD7 CIITA CLPB CORO1A CR2 CTLA4 CTNNBL1 CTPS1 CXCR4 CYBC1 DCLRE1C DEF6 DNMT3B DOCK2 DOCK8 ELANE EPG5 EXTL3 FAS FASLG FAT4 FCHO1 FNIP1 FOXN1 G6PC3 GATA2 GFI1 GINS1 GTF2H5 HELLS ICOS IFIH1 IGHM IGLL1 IKBKB IKBKG IKZF1 IKZF3 IL2RA IL2RG IL6ST IL7 IL7R IRAK1 IRF2BP2 ITK IVNS1ABP JAK3 KNSTRN LAT LCK LEP LEPR LRBA MAGT1 MCM10 MDM4 MS4A1 MSN MTHFD1 MYC MYD88 MYSM1 NBN NFKB1 NFKB2 NHEJ1 NR3C1 NSMCE3 PGM3 PI4KA PIK3CD PIK3CG PIK3R1 PNP POMP PRIM1 PRKCD PSMB4 PSMB9 PTEN PTPRC RAC2 RAG1 RAG2 RASGRP1 REL RFX5 RFXANK RFXAP RIPK1 RMRP RPA1 RRAS2 SAMD9 SASH3 SGPL1 SKIC2 SKIC3 SLC39A7 SMARCAL1 SP110 SPI1 SPP1 SPRED2 SRP54 STAT1 STAT2 STAT4 STING1 STK4 SYK TCF3 TCIRG1 TCN2 TERC TERT TFR2 TINF2 TLR7 TLR8 TNFAIP3 TNFRSF13B TNFRSF13C TNFSF12 TOM1 TP53 TPP2 TRNT1 TTC7A TTI2 UNC119 USP48 USP8 WAS WDR1 WIPF1 XRCC4 ZAP70 ZBTB24

Diseases (159) :OMIM:607944 ORPHA:277 OMIM:102700 OMIM:182410 OMIM:615688 ORPHA:2136 OMIM:267500 ORPHA:79324 OMIM:618459 ORPHA:100 OMIM:208900 OMIM:619851 ORPHA:96253 OMIM:241600 OMIM:617237 OMIM:300755 OMIM:307200 ORPHA:3261 ORPHA:1572 OMIM:610163 ORPHA:169160 OMIM:615617 OMIM:615615 OMIM:615607 OMIM:612692 OMIM:608957 ORPHA:2268 OMIM:214800 ORPHA:572 ORPHA:486 OMIM:615401 OMIM:616100 OMIM:619846 OMIM:615897 ORPHA:51636 OMIM:618935 OMIM:603554 OMIM:602450 OMIM:619573 OMIM:242860 OMIM:616433 ORPHA:217390 OMIM:243700 ORPHA:2686 OMIM:242840 OMIM:617425 ORPHA:508533 OMIM:619164 OMIM:619705 ORPHA:169095 OMIM:601705 OMIM:618806 OMIM:612541 OMIM:614172 OMIM:613107 OMIM:617827 OMIM:616395 OMIM:607594 OMIM:619773 OMIM:601495 OMIM:613500 OMIM:618204 OMIM:301081 OMIM:616873 OMIM:619437 OMIM:606367 OMIM:312863 OMIM:300400 ORPHA:276 OMIM:619752 OMIM:618309 OMIM:608971 ORPHA:169154 ORPHA:93552 OMIM:613011 OMIM:618969 OMIM:600802 ORPHA:35078 ORPHA:221139 OMIM:617514 OMIM:615758 ORPHA:66628 ORPHA:179494 OMIM:614700 OMIM:300853 OMIM:619313 OMIM:618849 OMIM:300988 OMIM:617780 ORPHA:543 OMIM:612260 ORPHA:508542 OMIM:251260 ORPHA:293978 ORPHA:169079 OMIM:617241 OMIM:615816 ORPHA:443811 OMIM:619708 OMIM:615513 OMIM:619281 OMIM:619802 OMIM:616005 OMIM:613179 ORPHA:760 OMIM:618048 OMIM:620005 OMIM:617591 OMIM:158350 OMIM:605309 OMIM:619924 OMIM:618986 OMIM:618987 OMIM:233650 ORPHA:231154 ORPHA:331206 OMIM:601457 OMIM:619652 OMIM:618108 OMIM:250250 OMIM:619767 OMIM:618624 OMIM:617053 OMIM:301082 OMIM:617575 ORPHA:84064 OMIM:619693 OMIM:242900 ORPHA:1830 ORPHA:79124 OMIM:619707 OMIM:619745 ORPHA:391487 OMIM:614162 OMIM:616636 OMIM:615934 OMIM:614868 OMIM:619381 OMIM:616941 OMIM:619824 ORPHA:859 OMIM:127550 OMIM:604250 OMIM:301080 OMIM:301078 OMIM:616744 OMIM:619510 ORPHA:444463 OMIM:616084 OMIM:243150 ORPHA:391307 OMIM:615518 OMIM:301000 ORPHA:906 OMIM:150550 OMIM:614493 OMIM:616541 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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