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:
Abnormal cellular immune system morphology (HP:0010987)

Grandparent Node:
Abnormality of blood and blood-forming tissues (HP:0001871)

Parent Node:
Abnormal leukocyte morphology (HP:0001881)

..Starting node
..Abnormal leukocyte count (HP:0011893)

Term ID:

11893

Name:

Abnormal leukocyte count

Synonym:

Abnormal white blood cell count

Definition:

Number of leukocytes per volume of blood beyond normal limits.

Comments:

Reference:

HP:0011893

Genes and Diseases:

Child Nodes:

........

Leukopenia (HP:0001882)

................... HP:0001888 Lymphopenia

........

Leukocytosis (HP:0001974)

................... HP:0001880 Eosinophilia
................... HP:0100827 Lymphocytosis

........

Abnormal neutrophil count (HP:0011991)

................... HP:0001875 Neutropenia
................... HP:0011897 Neutrophilia

........

Abnormal monocyte count (HP:0012310)

................... HP:0012311 Monocytosis
................... HP:0012312 Monocytopenia

........

Abnormal lymphocyte count (HP:0040088)

................... HP:0010975 Abnormal B cell count
................... HP:0011839 Abnormal T cell count

Sister Nodes:

Abnormal lymphocyte morphology (HP:0004332)

Abnormal monocyte morphology (HP:0012144)

Abnormal myeloid leukocyte morphology (HP:0010974)

Leukemia (HP:0001909)

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:0011893	HP:0011893	Abnormal leukocyte count	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia		51
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency		91
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome		75
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0011893	HP:0011893	Abnormal leukocyte count	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:0011893	HP:0011893	Abnormal leukocyte count	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0011893	HP:0011893	Abnormal leukocyte count	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0011893	HP:0011893	Abnormal leukocyte count	0	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0011893	HP:0011893	Abnormal leukocyte count	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis		19
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0011893	HP:0011893	Abnormal leukocyte count	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2		106
HP:0011893	HP:0011893	Abnormal leukocyte count	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0011893	HP:0011893	Abnormal leukocyte count	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis		145
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0011893	HP:0011893	Abnormal leukocyte count	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia		5
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9		35
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0011893	HP:0011893	Abnormal leukocyte count	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis		45
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis		272
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis		317
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19		18
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis		1371
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome		515
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0011893	HP:0011893	Abnormal leukocyte count	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8		7
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis		5
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CSF3R CL E G H	1441	2439	OMIM:617014	Neutropenia, severe congenital, 7, autosomal recessive		34
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary		34
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus		10
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis		39
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0011893	HP:0011893	Abnormal leukocyte count	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0011893	HP:0011893	Abnormal leukocyte count	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome		94
HP:0011893	HP:0011893	Abnormal leukocyte count	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0011893	HP:0011893	Abnormal leukocyte count	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0011893	HP:0011893	Abnormal leukocyte count	0	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0011893	HP:0011893	Abnormal leukocyte count	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011893	HP:0011893	Abnormal leukocyte count	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0011893	HP:0011893	Abnormal leukocyte count	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0011893	HP:0011893	Abnormal leukocyte count	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0011893	HP:0011893	Abnormal leukocyte count	0	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0011893	HP:0011893	Abnormal leukocyte count	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0011893	HP:0011893	Abnormal leukocyte count	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0011893	HP:0011893	Abnormal leukocyte count	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0011893	HP:0011893	Abnormal leukocyte count	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0011893	HP:0011893	Abnormal leukocyte count	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0011893	HP:0011893	Abnormal leukocyte count	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia		79
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0011893	HP:0011893	Abnormal leukocyte count	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ERCC6L2 CL E G H	375748	26922	OMIM:615715	Bone marrow failure syndrome 2		4
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0011893	HP:0011893	Abnormal leukocyte count	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus		6
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0011893	HP:0011893	Abnormal leukocyte count	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0011893	HP:0011893	Abnormal leukocyte count	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0011893	HP:0011893	Abnormal leukocyte count	0	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities		29
HP:0011893	HP:0011893	Abnormal leukocyte count	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0011893	HP:0011893	Abnormal leukocyte count	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0011893	HP:0011893	Abnormal leukocyte count	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome		137
HP:0011893	HP:0011893	Abnormal leukocyte count	0	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0011893	HP:0011893	Abnormal leukocyte count	0	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0011893	HP:0011893	Abnormal leukocyte count	0	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome		137
HP:0011893	HP:0011893	Abnormal leukocyte count	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0011893	HP:0011893	Abnormal leukocyte count	0	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0011893	HP:0011893	Abnormal leukocyte count	0	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0011893	HP:0011893	Abnormal leukocyte count	0	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0011893	HP:0011893	Abnormal leukocyte count	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0011893	HP:0011893	Abnormal leukocyte count	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0011893	HP:0011893	Abnormal leukocyte count	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0011893	HP:0011893	Abnormal leukocyte count	0	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia		580
HP:0011893	HP:0011893	Abnormal leukocyte count	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia		580
HP:0011893	HP:0011893	Abnormal leukocyte count	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0011893	HP:0011893	Abnormal leukocyte count	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0011893	HP:0011893	Abnormal leukocyte count	0	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0011893	HP:0011893	Abnormal leukocyte count	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0011893	HP:0011893	Abnormal leukocyte count	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69		23
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome		48
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome		94
HP:0011893	HP:0011893	Abnormal leukocyte count	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:0011893	HP:0011893	Abnormal leukocyte count	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IRAK4 CL E G H	51135	17967	ORPHA:70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency		58
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia		105
HP:0011893	HP:0011893	Abnormal leukocyte count	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0011893	HP:0011893	Abnormal leukocyte count	0	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive		8
HP:0011893	HP:0011893	Abnormal leukocyte count	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0011893	HP:0011893	Abnormal leukocyte count	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0011893	HP:0011893	Abnormal leukocyte count	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis		57
HP:0011893	HP:0011893	Abnormal leukocyte count	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0011893	HP:0011893	Abnormal leukocyte count	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0011893	HP:0011893	Abnormal leukocyte count	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0011893	HP:0011893	Abnormal leukocyte count	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome		88
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome		88
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy		11
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome		186
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0011893	HP:0011893	Abnormal leukocyte count	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0011893	HP:0011893	Abnormal leukocyte count	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:0011893	HP:0011893	Abnormal leukocyte count	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis		97
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0011893	HP:0011893	Abnormal leukocyte count	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome		217
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0011893	HP:0011893	Abnormal leukocyte count	0	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0011893	HP:0011893	Abnormal leukocyte count	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011893	HP:0011893	Abnormal leukocyte count	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease		563
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0011893	HP:0011893	Abnormal leukocyte count	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis		51
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome		948
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RAC2 CL E G H	5880	9802	ORPHA:183707	Neutrophil immunodeficiency syndrome		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome		127
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0011893	HP:0011893	Abnormal leukocyte count	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:0011893	HP:0011893	Abnormal leukocyte count	0	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome		50
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0011893	HP:0011893	Abnormal leukocyte count	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:0011893	HP:0011893	Abnormal leukocyte count	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0011893	HP:0011893	Abnormal leukocyte count	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome		37
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5		77
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis		181
HP:0011893	HP:0011893	Abnormal leukocyte count	0	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia		181
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome		86
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome		26
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG		24
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary		101
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance		104
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis		34
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0011893	HP:0011893	Abnormal leukocyte count	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0011893	HP:0011893	Abnormal leukocyte count	0	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0011893	HP:0011893	Abnormal leukocyte count	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0011893	HP:0011893	Abnormal leukocyte count	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0011893	HP:0011893	Abnormal leukocyte count	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0011893	HP:0011893	Abnormal leukocyte count	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0011893	HP:0011893	Abnormal leukocyte count	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011893	HP:0011893	Abnormal leukocyte count	0	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0011893	HP:0011893	Abnormal leukocyte count	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0011893	HP:0011893	Abnormal leukocyte count	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0011893	HP:0011893	Abnormal leukocyte count	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0011893	HP:0011893	Abnormal leukocyte count	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis		20
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia		16
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		48
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		238
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease		13
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis		6
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		60
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis		3
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome		131
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus		56
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0011893	HP:0011893	Abnormal leukocyte count	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome		11
HP:0011893	HP:0011893	Abnormal leukocyte count	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0011893	HP:0011893	Abnormal leukocyte count	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0011893	HP:0011893	Abnormal leukocyte count	0	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0011893	HP:0011893	Abnormal leukocyte count	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0011893	HP:0011893	Abnormal leukocyte count	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0011893	HP:0011893	Abnormal leukocyte count	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis		5
HP:0011893	HP:0011893	Abnormal leukocyte count	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0011893	HP:0011893	Abnormal leukocyte count	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0011893	HP:0011893	Abnormal leukocyte count	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0011893	HP:0011893	Abnormal leukocyte count	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0011893	HP:0011893	Abnormal leukocyte count	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0011893	HP:0011893	Abnormal leukocyte count	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0011893	HP:0011893	Abnormal leukocyte count	0	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0011893	HP:0011893	Abnormal leukocyte count	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0011893	Abnormal leukocyte count	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0011893	Abnormal leukocyte count	0	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0011893	HP:0011893	Abnormal leukocyte count	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0011893	HP:0011893	Abnormal leukocyte count	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0011893	HP:0011893	Abnormal leukocyte count	0	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0011893	HP:0011893	Abnormal leukocyte count	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0011893	HP:0011893	Abnormal leukocyte count	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0011893	HP:0011893	Abnormal leukocyte count	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0011893	HP:0011893	Abnormal leukocyte count	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0011893	HP:0020178	Abnormal dendritic cell count	1	CL E G H
HP:0011893	HP:0032372	Increased peripheral blast count	1	CL E G H
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0011893	HP:0001974	Leukocytosis	1	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	51
HP:0011893	HP:0001974	Leukocytosis	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent	91
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome		75
HP:0011893	HP:0001974	Leukocytosis	1	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	75
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0011893	HP:0040088	Abnormal lymphocyte count	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:0011893	HP:0001974	Leukocytosis	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:0011893	HP:0032309	Abnormal granulocyte count	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:0011893	HP:0032309	Abnormal granulocyte count	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0011893	HP:0001882	Leukopenia	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0011893	HP:0001974	Leukocytosis	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0011893	HP:0001882	Leukopenia	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0011893	HP:0001882	Leukopenia	1	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0011893	HP:0032309	Abnormal granulocyte count	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0011893	HP:0001882	Leukopenia	1	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0011893	HP:0032309	Abnormal granulocyte count	1	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0011893	HP:0001882	Leukopenia	1	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040281 - Very frequent	19
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0011893	HP:0032309	Abnormal granulocyte count	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0011893	HP:0001974	Leukocytosis	1	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2		106
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0011893	HP:0032309	Abnormal granulocyte count	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0011893	HP:0032309	Abnormal granulocyte count	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0011893	HP:0001882	Leukopenia	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	147
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0011893	HP:0001974	Leukocytosis	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0011893	HP:0001974	Leukocytosis	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis		145
HP:0011893	HP:0001974	Leukocytosis	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0011893	HP:0001882	Leukopenia	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0011893	HP:0001974	Leukocytosis	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0011893	HP:0032309	Abnormal granulocyte count	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0011893	HP:0001974	Leukocytosis	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0011893	HP:0001974	Leukocytosis	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0011893	HP:0001882	Leukopenia	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0011893	HP:0032309	Abnormal granulocyte count	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0011893	HP:0001974	Leukocytosis	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	101
HP:0011893	HP:0001974	Leukocytosis	1	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	5
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0011893	HP:0032309	Abnormal granulocyte count	1	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0011893	HP:0032309	Abnormal granulocyte count	1	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0011893	HP:0001882	Leukopenia	1	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9	.	35
HP:0011893	HP:0001974	Leukocytosis	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0011893	HP:0032309	Abnormal granulocyte count	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0011893	HP:0001882	Leukopenia	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	5769
HP:0011893	HP:0001882	Leukopenia	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	7642
HP:0011893	HP:0001882	Leukopenia	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1086
HP:0011893	HP:0032309	Abnormal granulocyte count	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0011893	HP:0032309	Abnormal granulocyte count	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0011893	HP:0001882	Leukopenia	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	1
HP:0011893	HP:0001974	Leukocytosis	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0011893	HP:0001882	Leukopenia	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0011893	HP:0001974	Leukocytosis	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0011893	HP:0001974	Leukocytosis	1	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0011893	HP:0001974	Leukocytosis	1	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0011893	HP:0012310	Abnormal monocyte count	1	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0011893	HP:0001974	Leukocytosis	1	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis		45
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis		45
HP:0011893	HP:0001974	Leukocytosis	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011893	HP:0001974	Leukocytosis	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.	118
HP:0011893	HP:0001974	Leukocytosis	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0011893	HP:0001974	Leukocytosis	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0011893	HP:0001974	Leukocytosis	1	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	272
HP:0011893	HP:0001974	Leukocytosis	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis		317
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0011893	HP:0001974	Leukocytosis	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0011893	HP:0001974	Leukocytosis	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19		18
HP:0011893	HP:0001974	Leukocytosis	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0011893	HP:0001974	Leukocytosis	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0011893	HP:0001974	Leukocytosis	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0011893	HP:0001974	Leukocytosis	1	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0011893	HP:0001974	Leukocytosis	1	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	1371
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0011893	HP:0001974	Leukocytosis	1	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	515
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome		515
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0011893	HP:0001882	Leukopenia	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0011893	HP:0012310	Abnormal monocyte count	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0011893	HP:0001974	Leukocytosis	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0011893	HP:0032309	Abnormal granulocyte count	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8		7
HP:0011893	HP:0001974	Leukocytosis	1	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	5
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CSF3R CL E G H	1441	2439	OMIM:617014	Neutropenia, severe congenital, 7, autosomal recessive		34
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary		34
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0011893	HP:0001882	Leukopenia	1	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus	.	10
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0011893	HP:0001974	Leukocytosis	1	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	39
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0011893	HP:0032309	Abnormal granulocyte count	1	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0011893	HP:0001974	Leukocytosis	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0011893	HP:0001974	Leukocytosis	1	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0011893	HP:0032309	Abnormal granulocyte count	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0011893	HP:0032309	Abnormal granulocyte count	1	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome		94
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0011893	HP:0032309	Abnormal granulocyte count	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0011893	HP:0001974	Leukocytosis	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0011893	HP:0001882	Leukopenia	1	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0011893	HP:0012310	Abnormal monocyte count	1	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011893	HP:0001882	Leukopenia	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0011893	HP:0001882	Leukopenia	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	9
HP:0011893	HP:0001882	Leukopenia	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	5
HP:0011893	HP:0032309	Abnormal granulocyte count	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0011893	HP:0032309	Abnormal granulocyte count	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0011893	HP:0001882	Leukopenia	1	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus	.	3
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0011893	HP:0001882	Leukopenia	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	18
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0011893	HP:0032309	Abnormal granulocyte count	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0011893	HP:0001974	Leukocytosis	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0011893	HP:0032309	Abnormal granulocyte count	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0011893	HP:0001882	Leukopenia	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0011893	HP:0001974	Leukocytosis	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0011893	HP:0032309	Abnormal granulocyte count	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0011893	HP:0001974	Leukocytosis	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0011893	HP:0012310	Abnormal monocyte count	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia		79
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0011893	HP:0012310	Abnormal monocyte count	1	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0011893	HP:0001974	Leukocytosis	1	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0011893	HP:0001974	Leukocytosis	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0011893	HP:0001882	Leukopenia	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	4
HP:0011893	HP:0032309	Abnormal granulocyte count	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011893	HP:0001882	Leukopenia	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0011893	HP:0001882	Leukopenia	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	158
HP:0011893	HP:0001882	Leukopenia	1	ERCC6L2 CL E G H	375748	26922	OMIM:615715	Bone marrow failure syndrome 2	.	4
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0011893	HP:0001974	Leukocytosis	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0011893	HP:0001974	Leukocytosis	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0011893	HP:0001882	Leukopenia	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	340
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0011893	HP:0001882	Leukopenia	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	58
HP:0011893	HP:0001882	Leukopenia	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	410
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0011893	HP:0001882	Leukopenia	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	147
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0011893	HP:0001882	Leukopenia	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	73
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0011893	HP:0001882	Leukopenia	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	87
HP:0011893	HP:0001882	Leukopenia	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0011893	HP:0001882	Leukopenia	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	73
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0011893	HP:0001882	Leukopenia	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	157
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0011893	HP:0001882	Leukopenia	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	53
HP:0011893	HP:0001882	Leukopenia	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	107
HP:0011893	HP:0001974	Leukocytosis	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0001974	Leukocytosis	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0001974	Leukocytosis	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0001974	Leukocytosis	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0011893	HP:0001882	Leukopenia	1	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus	.	6
HP:0011893	HP:0001882	Leukopenia	1	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus	.	2
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0011893	HP:0001974	Leukocytosis	1	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0011893	HP:0001882	Leukopenia	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0011893	HP:0001974	Leukocytosis	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0011893	HP:0001882	Leukopenia	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0011893	HP:0001974	Leukocytosis	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0011893	HP:0001974	Leukocytosis	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0011893	HP:0032309	Abnormal granulocyte count	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1		3
HP:0011893	HP:0012310	Abnormal monocyte count	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0011893	HP:0001882	Leukopenia	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0011893	HP:0032309	Abnormal granulocyte count	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0011893	HP:0001974	Leukocytosis	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.	101
HP:0011893	HP:0032309	Abnormal granulocyte count	1	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities		29
HP:0011893	HP:0032309	Abnormal granulocyte count	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0011893	HP:0001882	Leukopenia	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0011893	HP:0001882	Leukopenia	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	29
HP:0011893	HP:0001974	Leukocytosis	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040283 - Occasional	137
HP:0011893	HP:0032309	Abnormal granulocyte count	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome		137
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0011893	HP:0012310	Abnormal monocyte count	1	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0011893	HP:0032309	Abnormal granulocyte count	1	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0011893	HP:0001974	Leukocytosis	1	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome	HP:0040283 - Occasional	137
HP:0011893	HP:0001882	Leukopenia	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0011893	HP:0001974	Leukocytosis	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0011893	HP:0012310	Abnormal monocyte count	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0011893	HP:0032309	Abnormal granulocyte count	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0011893	HP:0032309	Abnormal granulocyte count	1	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0011893	HP:0032309	Abnormal granulocyte count	1	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0011893	HP:0012310	Abnormal monocyte count	1	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0011893	HP:0032309	Abnormal granulocyte count	1	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0011893	HP:0032309	Abnormal granulocyte count	1	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0011893	HP:0032309	Abnormal granulocyte count	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0011893	HP:0032309	Abnormal granulocyte count	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0011893	HP:0001974	Leukocytosis	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional	580
HP:0011893	HP:0001974	Leukocytosis	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040282 - Frequent	580
HP:0011893	HP:0001974	Leukocytosis	1	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.	580
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0011893	HP:0001882	Leukopenia	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	2
HP:0011893	HP:0001974	Leukocytosis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0011893	HP:0001882	Leukopenia	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional	35
HP:0011893	HP:0001974	Leukocytosis	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional	35
HP:0011893	HP:0032309	Abnormal granulocyte count	1	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0011893	HP:0032309	Abnormal granulocyte count	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0011893	HP:0001974	Leukocytosis	1	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69		23
HP:0011893	HP:0001974	Leukocytosis	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0011893	HP:0001974	Leukocytosis	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0011893	HP:0001974	Leukocytosis	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0011893	HP:0001974	Leukocytosis	1	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	48
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome		48
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0011893	HP:0001974	Leukocytosis	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0011893	HP:0001974	Leukocytosis	1	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0011893	HP:0001974	Leukocytosis	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0011893	HP:0001974	Leukocytosis	1	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome		94
HP:0011893	HP:0040088	Abnormal lymphocyte count	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:0011893	HP:0001974	Leukocytosis	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011893	HP:0001974	Leukocytosis	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011893	HP:0001882	Leukopenia	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IRAK4 CL E G H	51135	17967	ORPHA:70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency		58
HP:0011893	HP:0001974	Leukocytosis	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0011893	HP:0001882	Leukopenia	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0011893	HP:0032309	Abnormal granulocyte count	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0011893	HP:0001974	Leukocytosis	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0011893	HP:0012310	Abnormal monocyte count	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0011893	HP:0001882	Leukopenia	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0011893	HP:0001974	Leukocytosis	1	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0011893	HP:0001882	Leukopenia	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0011893	HP:0001882	Leukopenia	1	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.	105
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0011893	HP:0032309	Abnormal granulocyte count	1	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive		8
HP:0011893	HP:0001974	Leukocytosis	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0011893	HP:0032309	Abnormal granulocyte count	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0011893	HP:0001974	Leukocytosis	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0011893	HP:0001974	Leukocytosis	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0011893	HP:0032309	Abnormal granulocyte count	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0011893	HP:0001974	Leukocytosis	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0011893	HP:0012310	Abnormal monocyte count	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0011893	HP:0001974	Leukocytosis	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0011893	HP:0032309	Abnormal granulocyte count	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0011893	HP:0001974	Leukocytosis	1	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR		1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency		1
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0011893	HP:0032309	Abnormal granulocyte count	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0011893	HP:0001974	Leukocytosis	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	88
HP:0011893	HP:0001974	Leukocytosis	1	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	88
HP:0011893	HP:0032309	Abnormal granulocyte count	1	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome		88
HP:0011893	HP:0001882	Leukopenia	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0011893	HP:0032309	Abnormal granulocyte count	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0011893	HP:0032309	Abnormal granulocyte count	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0011893	HP:0001974	Leukocytosis	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy		11
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy		11
HP:0011893	HP:0001974	Leukocytosis	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040282 - Frequent	186
HP:0011893	HP:0032309	Abnormal granulocyte count	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011893	HP:0032309	Abnormal granulocyte count	1	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0011893	HP:0032309	Abnormal granulocyte count	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0011893	HP:0001882	Leukopenia	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.	239
HP:0011893	HP:0001882	Leukopenia	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0011893	HP:0040088	Abnormal lymphocyte count	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:0011893	HP:0040088	Abnormal lymphocyte count	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0011893	HP:0032309	Abnormal granulocyte count	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0011893	HP:0032309	Abnormal granulocyte count	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0011893	HP:0001974	Leukocytosis	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0011893	HP:0001974	Leukocytosis	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040282 - Frequent	281
HP:0011893	HP:0032309	Abnormal granulocyte count	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0011893	HP:0001974	Leukocytosis	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0011893	HP:0032309	Abnormal granulocyte count	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0011893	HP:0032309	Abnormal granulocyte count	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0011893	HP:0032309	Abnormal granulocyte count	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0011893	HP:0032309	Abnormal granulocyte count	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0011893	HP:0032309	Abnormal granulocyte count	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0011893	HP:0001882	Leukopenia	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0011893	HP:0032309	Abnormal granulocyte count	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0011893	HP:0032309	Abnormal granulocyte count	1	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0011893	HP:0001974	Leukocytosis	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0011893	HP:0032309	Abnormal granulocyte count	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0011893	HP:0032309	Abnormal granulocyte count	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0011893	HP:0001974	Leukocytosis	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0011893	HP:0032309	Abnormal granulocyte count	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0011893	HP:0001974	Leukocytosis	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0011893	HP:0001882	Leukopenia	1	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	.
HP:0011893	HP:0001882	Leukopenia	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:0011893	HP:0040088	Abnormal lymphocyte count	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0011893	HP:0032309	Abnormal granulocyte count	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0011893	HP:0001974	Leukocytosis	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0011893	HP:0001882	Leukopenia	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0011893	HP:0032309	Abnormal granulocyte count	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0011893	HP:0001974	Leukocytosis	1	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0011893	HP:0032309	Abnormal granulocyte count	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0011893	HP:0001974	Leukocytosis	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0011893	HP:0032309	Abnormal granulocyte count	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0011893	HP:0001974	Leukocytosis	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0011893	HP:0001974	Leukocytosis	1	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0011893	HP:0001974	Leukocytosis	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent	217
HP:0011893	HP:0001974	Leukocytosis	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0011893	HP:0032309	Abnormal granulocyte count	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0011893	HP:0001974	Leukocytosis	1	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0011893	HP:0001974	Leukocytosis	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0011893	HP:0001882	Leukopenia	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	452
HP:0011893	HP:0032309	Abnormal granulocyte count	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0011893	HP:0001974	Leukocytosis	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0011893	HP:0001882	Leukopenia	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0011893	HP:0032309	Abnormal granulocyte count	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0011893	HP:0001974	Leukocytosis	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0011893	HP:0032309	Abnormal granulocyte count	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0011893	HP:0012310	Abnormal monocyte count	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0011893	HP:0001974	Leukocytosis	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0011893	HP:0001882	Leukopenia	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0011893	HP:0032309	Abnormal granulocyte count	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0011893	HP:0001974	Leukocytosis	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0011893	HP:0001974	Leukocytosis	1	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0011893	HP:0001974	Leukocytosis	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0011893	HP:0001882	Leukopenia	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011893	HP:0032309	Abnormal granulocyte count	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0011893	HP:0001974	Leukocytosis	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0011893	HP:0001882	Leukopenia	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1349
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0011893	HP:0001974	Leukocytosis	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0011893	HP:0001974	Leukocytosis	1	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0011893	HP:0001974	Leukocytosis	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0011893	HP:0001974	Leukocytosis	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0011893	HP:0001882	Leukopenia	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0011893	HP:0001882	Leukopenia	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0011893	HP:0001974	Leukocytosis	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0011893	HP:0012310	Abnormal monocyte count	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0012310	Abnormal monocyte count	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0001974	Leukocytosis	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0011893	HP:0001974	Leukocytosis	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional	563
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0011893	HP:0001974	Leukocytosis	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	3
HP:0011893	HP:0001882	Leukopenia	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0011893	HP:0001882	Leukopenia	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	.	58
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0011893	HP:0001882	Leukopenia	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0011893	HP:0001974	Leukocytosis	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	134
HP:0011893	HP:0001974	Leukocytosis	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0011893	HP:0032309	Abnormal granulocyte count	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0011893	HP:0001974	Leukocytosis	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0011893	HP:0001974	Leukocytosis	1	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	51
HP:0011893	HP:0001974	Leukocytosis	1	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	1
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome		948
HP:0011893	HP:0001882	Leukopenia	1	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus	.	3
HP:0011893	HP:0001974	Leukocytosis	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0011893	HP:0001882	Leukopenia	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0011893	HP:0012310	Abnormal monocyte count	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0011893	HP:0001974	Leukocytosis	1	RAC2 CL E G H	5880	9802	ORPHA:183707	Neutrophil immunodeficiency syndrome	HP:0040281 - Very frequent	9
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0011893	HP:0001974	Leukocytosis	1	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0011893	HP:0001882	Leukopenia	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	9
HP:0011893	HP:0001882	Leukopenia	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	391
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0011893	HP:0001974	Leukocytosis	1	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	127
HP:0011893	HP:0001974	Leukocytosis	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome		127
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0011893	HP:0001974	Leukocytosis	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0011893	HP:0040088	Abnormal lymphocyte count	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:0011893	HP:0040088	Abnormal lymphocyte count	1	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0011893	HP:0001974	Leukocytosis	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0011893	HP:0001974	Leukocytosis	1	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	50
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome		50
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0011893	HP:0001974	Leukocytosis	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0011893	HP:0040088	Abnormal lymphocyte count	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:0011893	HP:0001882	Leukopenia	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0011893	HP:0001974	Leukocytosis	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	2
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011893	HP:0001974	Leukocytosis	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0011893	HP:0001974	Leukocytosis	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0011893	HP:0001974	Leukocytosis	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0011893	HP:0001882	Leukopenia	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0011893	HP:0001974	Leukocytosis	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0011893	HP:0001882	Leukopenia	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0011893	HP:0001974	Leukocytosis	1	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	37
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome		37
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0011893	HP:0001974	Leukocytosis	1	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0011893	HP:0001974	Leukocytosis	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0011893	HP:0001974	Leukocytosis	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0011893	HP:0001882	Leukopenia	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0011893	HP:0001882	Leukopenia	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0011893	HP:0001882	Leukopenia	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0011893	HP:0001882	Leukopenia	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0011893	HP:0001882	Leukopenia	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011893	HP:0001882	Leukopenia	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011893	HP:0001882	Leukopenia	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0011893	HP:0001882	Leukopenia	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0011893	HP:0001882	Leukopenia	1	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0011893	HP:0001882	Leukopenia	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0011893	HP:0001882	Leukopenia	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0011893	HP:0001882	Leukopenia	1	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040283 - Occasional
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011893	HP:0001882	Leukopenia	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0011893	HP:0001882	Leukopenia	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0011893	HP:0001882	Leukopenia	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0011893	HP:0001882	Leukopenia	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0011893	HP:0001882	Leukopenia	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0011893	HP:0001882	Leukopenia	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0011893	HP:0001882	Leukopenia	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011893	HP:0001882	Leukopenia	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0011893	HP:0001882	Leukopenia	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0011893	HP:0001882	Leukopenia	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0011893	HP:0001882	Leukopenia	1	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5	.	77
HP:0011893	HP:0001974	Leukocytosis	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0011893	HP:0032309	Abnormal granulocyte count	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis		181
HP:0011893	HP:0001974	Leukocytosis	1	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	181
HP:0011893	HP:0001974	Leukocytosis	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040283 - Occasional	86
HP:0011893	HP:0001974	Leukocytosis	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.	86
HP:0011893	HP:0001882	Leukopenia	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	HP:0040283 - Occasional	8
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0011893	HP:0001882	Leukopenia	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0011893	HP:0001882	Leukopenia	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0011893	HP:0001882	Leukopenia	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	26
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0011893	HP:0001882	Leukopenia	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional	77
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5		2
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0011893	HP:0001974	Leukocytosis	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0011893	HP:0001974	Leukocytosis	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011893	HP:0001974	Leukocytosis	1	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome		26
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome		26
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG		24
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0011893	HP:0001974	Leukocytosis	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040281 - Very frequent	71
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary		101
HP:0011893	HP:0001882	Leukopenia	1	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.	101
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0011893	HP:0001974	Leukocytosis	1	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0011893	HP:0001882	Leukopenia	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0011893	HP:0001882	Leukopenia	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0011893	HP:0001882	Leukopenia	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	274
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040281 - Very frequent	49
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0011893	HP:0001974	Leukocytosis	1	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	34
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0011893	HP:0001974	Leukocytosis	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0011893	HP:0001882	Leukopenia	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011893	HP:0001974	Leukocytosis	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0011893	HP:0001974	Leukocytosis	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0011893	HP:0012310	Abnormal monocyte count	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0011893	HP:0001882	Leukopenia	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis		1
HP:0011893	HP:0001974	Leukocytosis	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0011893	HP:0001974	Leukocytosis	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0011893	HP:0032309	Abnormal granulocyte count	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0011893	HP:0001974	Leukocytosis	1	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0011893	HP:0001974	Leukocytosis	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	110
HP:0011893	HP:0001882	Leukopenia	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0011893	HP:0032309	Abnormal granulocyte count	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0011893	HP:0032309	Abnormal granulocyte count	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0011893	HP:0001974	Leukocytosis	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0011893	HP:0032309	Abnormal granulocyte count	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0011893	HP:0001974	Leukocytosis	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0011893	HP:0032309	Abnormal granulocyte count	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus		2
HP:0011893	HP:0001882	Leukopenia	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent	2
HP:0011893	HP:0001974	Leukocytosis	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0011893	HP:0032309	Abnormal granulocyte count	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0011893	HP:0001882	Leukopenia	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011893	HP:0001882	Leukopenia	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0011893	HP:0032309	Abnormal granulocyte count	1	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0011893	HP:0032309	Abnormal granulocyte count	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0011893	HP:0032309	Abnormal granulocyte count	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0011893	HP:0032309	Abnormal granulocyte count	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011893	HP:0001974	Leukocytosis	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	20
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis		20
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0011893	HP:0001882	Leukopenia	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0011893	HP:0001974	Leukocytosis	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	22
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0011893	HP:0001974	Leukocytosis	1	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0011893	HP:0001882	Leukopenia	1	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia	HP:0040283 - Occasional	16
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0011893	HP:0001974	Leukocytosis	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0011893	HP:0012310	Abnormal monocyte count	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23		3
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		48
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0011893	HP:0001882	Leukopenia	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		238
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0011893	HP:0001974	Leukocytosis	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis		3
HP:0011893	HP:0001974	Leukocytosis	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0011893	HP:0001974	Leukocytosis	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia		3
HP:0011893	HP:0001974	Leukocytosis	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0011893	HP:0001882	Leukopenia	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0011893	HP:0001974	Leukocytosis	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0011893	HP:0001974	Leukocytosis	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	6
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis		6
HP:0011893	HP:0001882	Leukopenia	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.	60
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		60
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis		3
HP:0011893	HP:0001974	Leukocytosis	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	3
HP:0011893	HP:0001882	Leukopenia	1	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0011893	HP:0001974	Leukocytosis	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040282 - Frequent	131
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0011893	HP:0001974	Leukocytosis	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0011893	HP:0001974	Leukocytosis	1	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis		2
HP:0011893	HP:0001974	Leukocytosis	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	2
HP:0011893	HP:0001882	Leukopenia	1	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus	.	56
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0011893	HP:0032309	Abnormal granulocyte count	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011893	HP:0001882	Leukopenia	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0011893	HP:0001974	Leukocytosis	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome		11
HP:0011893	HP:0032309	Abnormal granulocyte count	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0011893	HP:0001882	Leukopenia	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	2
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0011893	HP:0032309	Abnormal granulocyte count	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0011893	HP:0032309	Abnormal granulocyte count	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0011893	HP:0032309	Abnormal granulocyte count	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis		5
HP:0011893	HP:0001974	Leukocytosis	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	5
HP:0011893	HP:0001882	Leukopenia	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	41
HP:0011893	HP:0032309	Abnormal granulocyte count	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0011893	HP:0001882	Leukopenia	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0011893	HP:0001974	Leukocytosis	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0011893	HP:0032309	Abnormal granulocyte count	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0011893	HP:0001974	Leukocytosis	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0011893	HP:0032309	Abnormal granulocyte count	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0011893	HP:0032309	Abnormal granulocyte count	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0011893	HP:0001882	Leukopenia	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0011893	HP:0001882	Leukopenia	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent	1
HP:0011893	HP:0001882	Leukopenia	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0011893	HP:0001882	Leukopenia	1	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive	.	7
HP:0011893	HP:0032309	Abnormal granulocyte count	1	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0011893	HP:0032309	Abnormal granulocyte count	1	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0011893	HP:0012310	Abnormal monocyte count	1	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0032309	Abnormal granulocyte count	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0001974	Leukocytosis	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0032309	Abnormal granulocyte count	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0012310	Abnormal monocyte count	1	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0011893	HP:0032309	Abnormal granulocyte count	1	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0011893	HP:0032309	Abnormal granulocyte count	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0011893	HP:0032309	Abnormal granulocyte count	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0011893	HP:0032309	Abnormal granulocyte count	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0011893	HP:0001974	Leukocytosis	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0011893	HP:0001882	Leukopenia	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	125
HP:0011893	HP:0001974	Leukocytosis	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	9
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0011893	HP:0001974	Leukocytosis	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0011893	HP:0001882	Leukopenia	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0011893	HP:0001974	Leukocytosis	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	1
HP:0011893	HP:0040088	Abnormal lymphocyte count	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0011893	HP:0001974	Leukocytosis	1	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0011893	HP:0001882	Leukopenia	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011893	HP:0032309	Abnormal granulocyte count	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0011893	HP:0012310	Abnormal monocyte count	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0011893	HP:0001974	Leukocytosis	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0011893	HP:4000034	Infection-ssociated lymphopenia	2	CL E G H
HP:0011893	HP:0032310	Granulocytosis	2	CL E G H
HP:0011893	HP:0011991	Abnormal neutrophil count	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0011893	HP:0011991	Abnormal neutrophil count	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0011893	HP:0011839	Abnormal T cell count	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0011893	HP:0001888	Lymphopenia	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0011893	HP:0020064	Abnormal eosinophil count	2	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome		75
HP:0011893	HP:0001880	Eosinophilia	2	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	75
HP:0011893	HP:0001888	Lymphopenia	2	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0011893	HP:0011839	Abnormal T cell count	2	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0011893	HP:0010975	Abnormal B cell count	2	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0011893	HP:0010975	Abnormal B cell count	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:0011893	HP:0001888	Lymphopenia	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:0011893	HP:0001880	Eosinophilia	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:0011893	HP:0020064	Abnormal eosinophil count	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:0011893	HP:0011991	Abnormal neutrophil count	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0011893	HP:0001888	Lymphopenia	2	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0011893	HP:0001888	Lymphopenia	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0011893	HP:0001888	Lymphopenia	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0011893	HP:0001888	Lymphopenia	2	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0011893	HP:0001913	Granulocytopenia	2	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0011893	HP:0010975	Abnormal B cell count	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0011893	HP:0001888	Lymphopenia	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0011893	HP:0011991	Abnormal neutrophil count	2	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0011893	HP:0011991	Abnormal neutrophil count	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0011893	HP:0011991	Abnormal neutrophil count	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0011893	HP:0011839	Abnormal T cell count	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0011893	HP:0011991	Abnormal neutrophil count	2	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0011893	HP:0010975	Abnormal B cell count	2	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0011893	HP:0001888	Lymphopenia	2	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0011893	HP:0100827	Lymphocytosis	2	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	.
HP:0011893	HP:0011991	Abnormal neutrophil count	2	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis		145
HP:0011893	HP:0031806	Abnormal basophil count	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0011893	HP:0020064	Abnormal eosinophil count	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0011893	HP:0011991	Abnormal neutrophil count	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0011893	HP:0001880	Eosinophilia	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0011893	HP:0001888	Lymphopenia	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0011893	HP:0011839	Abnormal T cell count	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0011893	HP:0001888	Lymphopenia	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0011893	HP:0010975	Abnormal B cell count	2	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0011893	HP:0001888	Lymphopenia	2	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0011893	HP:0011839	Abnormal T cell count	2	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0011893	HP:0011991	Abnormal neutrophil count	2	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0011893	HP:0020064	Abnormal eosinophil count	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0011893	HP:0001888	Lymphopenia	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0011893	HP:0001888	Lymphopenia	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0011893	HP:0010975	Abnormal B cell count	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0011893	HP:0010975	Abnormal B cell count	2	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0011893	HP:0031806	Abnormal basophil count	2	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0011893	HP:0011839	Abnormal T cell count	2	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0011893	HP:0001888	Lymphopenia	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0011893	HP:0020064	Abnormal eosinophil count	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0011893	HP:0001880	Eosinophilia	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0011893	HP:0020064	Abnormal eosinophil count	2	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0011893	HP:0001880	Eosinophilia	2	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	HP:0040284 - Very rare	3
HP:0011893	HP:0011991	Abnormal neutrophil count	2	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0011893	HP:0011839	Abnormal T cell count	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0011893	HP:0011991	Abnormal neutrophil count	2	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0011893	HP:0011991	Abnormal neutrophil count	2	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0011893	HP:0020064	Abnormal eosinophil count	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0011893	HP:0001888	Lymphopenia	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0011893	HP:0001888	Lymphopenia	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0011893	HP:0011991	Abnormal neutrophil count	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0011893	HP:0010975	Abnormal B cell count	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0011893	HP:0001888	Lymphopenia	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0011893	HP:0010975	Abnormal B cell count	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0011893	HP:0011991	Abnormal neutrophil count	2	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0011893	HP:0100827	Lymphocytosis	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0011893	HP:0001880	Eosinophilia	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare	1
HP:0011893	HP:0011839	Abnormal T cell count	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0011893	HP:0020064	Abnormal eosinophil count	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0011893	HP:0001880	Eosinophilia	2	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A	.	323
HP:0011893	HP:0020064	Abnormal eosinophil count	2	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0011893	HP:0020064	Abnormal eosinophil count	2	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0011893	HP:0100827	Lymphocytosis	2	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0011893	HP:0010975	Abnormal B cell count	2	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0011893	HP:0012312	Monocytopenia	2	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0011893	HP:0011839	Abnormal T cell count	2	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0011893	HP:0020064	Abnormal eosinophil count	2	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis		45
HP:0011893	HP:0001880	Eosinophilia	2	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis	.	45
HP:0011893	HP:0001880	Eosinophilia	2	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0011893	HP:0020064	Abnormal eosinophil count	2	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011893	HP:0020064	Abnormal eosinophil count	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0011893	HP:0100827	Lymphocytosis	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0011893	HP:0011839	Abnormal T cell count	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0011893	HP:0010975	Abnormal B cell count	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0011893	HP:0001888	Lymphopenia	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0011893	HP:0001880	Eosinophilia	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0011893	HP:0020064	Abnormal eosinophil count	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011893	HP:0010975	Abnormal B cell count	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011893	HP:0001880	Eosinophilia	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0011893	HP:0100827	Lymphocytosis	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011893	HP:0011839	Abnormal T cell count	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011893	HP:0011839	Abnormal T cell count	2	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis		317
HP:0011893	HP:0001888	Lymphopenia	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	147
HP:0011893	HP:0001888	Lymphopenia	2	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	38
HP:0011893	HP:0010975	Abnormal B cell count	2	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0011893	HP:0001888	Lymphopenia	2	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0011893	HP:0011839	Abnormal T cell count	2	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0011893	HP:0020064	Abnormal eosinophil count	2	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0011893	HP:0001880	Eosinophilia	2	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0011893	HP:0001888	Lymphopenia	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	8
HP:0011893	HP:0001880	Eosinophilia	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0011893	HP:0011839	Abnormal T cell count	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0011893	HP:0020064	Abnormal eosinophil count	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0011893	HP:0001888	Lymphopenia	2	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19	.	18
HP:0011893	HP:0020064	Abnormal eosinophil count	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0011893	HP:0011839	Abnormal T cell count	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0011893	HP:0001888	Lymphopenia	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	18
HP:0011893	HP:0001880	Eosinophilia	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0011893	HP:0011839	Abnormal T cell count	2	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0011893	HP:0001888	Lymphopenia	2	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18	HP:0040284 - Very rare	24
HP:0011893	HP:0020064	Abnormal eosinophil count	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0011893	HP:0001888	Lymphopenia	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	24
HP:0011893	HP:0001880	Eosinophilia	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0011893	HP:0011839	Abnormal T cell count	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0011893	HP:0001888	Lymphopenia	2	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0011893	HP:0011839	Abnormal T cell count	2	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0011893	HP:0011839	Abnormal T cell count	2	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0011893	HP:0010975	Abnormal B cell count	2	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0011893	HP:0001888	Lymphopenia	2	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0011893	HP:0001888	Lymphopenia	2	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0011893	HP:0001888	Lymphopenia	2	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0011893	HP:0011839	Abnormal T cell count	2	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0011893	HP:0001888	Lymphopenia	2	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	4
HP:0011893	HP:0020064	Abnormal eosinophil count	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0011893	HP:0001888	Lymphopenia	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0011893	HP:0001880	Eosinophilia	2	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0011893	HP:0020064	Abnormal eosinophil count	2	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0011893	HP:0001888	Lymphopenia	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0011893	HP:0001880	Eosinophilia	2	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	515
HP:0011893	HP:0020064	Abnormal eosinophil count	2	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome		515
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0011893	HP:0001888	Lymphopenia	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0011893	HP:0011839	Abnormal T cell count	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0011893	HP:0001880	Eosinophilia	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0011893	HP:0012311	Monocytosis	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	38
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0011893	HP:0020064	Abnormal eosinophil count	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0011893	HP:0001888	Lymphopenia	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	38
HP:0011893	HP:0011991	Abnormal neutrophil count	2	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0011893	HP:0001888	Lymphopenia	2	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8	.	7
HP:0011893	HP:0001888	Lymphopenia	2	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CSF3R CL E G H	1441	2439	OMIM:617014	Neutropenia, severe congenital, 7, autosomal recessive		34
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary		34
HP:0011893	HP:0001888	Lymphopenia	2	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0011893	HP:0010975	Abnormal B cell count	2	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0011893	HP:0001888	Lymphopenia	2	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0011893	HP:0011839	Abnormal T cell count	2	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0011893	HP:0011839	Abnormal T cell count	2	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0011893	HP:0001888	Lymphopenia	2	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0011893	HP:0010975	Abnormal B cell count	2	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0011893	HP:0011991	Abnormal neutrophil count	2	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0011893	HP:0001888	Lymphopenia	2	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040281 - Very frequent	9
HP:0011893	HP:0001888	Lymphopenia	2	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0011893	HP:0020064	Abnormal eosinophil count	2	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome		94
HP:0011893	HP:0001888	Lymphopenia	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0011893	HP:0001880	Eosinophilia	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0011893	HP:0001880	Eosinophilia	2	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0011893	HP:0020064	Abnormal eosinophil count	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0011893	HP:0010975	Abnormal B cell count	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0011893	HP:0011839	Abnormal T cell count	2	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0011893	HP:0011839	Abnormal T cell count	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0011893	HP:0020064	Abnormal eosinophil count	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0011893	HP:0001888	Lymphopenia	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0011893	HP:0010975	Abnormal B cell count	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0011893	HP:0001880	Eosinophilia	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0011893	HP:0012311	Monocytosis	2	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0011893	HP:0011839	Abnormal T cell count	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011893	HP:0001888	Lymphopenia	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011893	HP:0011991	Abnormal neutrophil count	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0011893	HP:0011991	Abnormal neutrophil count	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0011893	HP:0001888	Lymphopenia	2	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	79
HP:0011893	HP:0011839	Abnormal T cell count	2	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0011893	HP:0001888	Lymphopenia	2	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0011893	HP:0011839	Abnormal T cell count	2	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0011893	HP:0001888	Lymphopenia	2	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40	.	6
HP:0011893	HP:0010975	Abnormal B cell count	2	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0011893	HP:0001888	Lymphopenia	2	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0011893	HP:0011839	Abnormal T cell count	2	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0011893	HP:0020064	Abnormal eosinophil count	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0011893	HP:0001880	Eosinophilia	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0011893	HP:0001888	Lymphopenia	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0011893	HP:0011839	Abnormal T cell count	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0011893	HP:0011991	Abnormal neutrophil count	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0011893	HP:0100827	Lymphocytosis	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional	65
HP:0011893	HP:0011991	Abnormal neutrophil count	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0011893	HP:0001880	Eosinophilia	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0011893	HP:0001888	Lymphopenia	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	79
HP:0011893	HP:0012311	Monocytosis	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	79
HP:0011893	HP:0020064	Abnormal eosinophil count	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0011893	HP:0011991	Abnormal neutrophil count	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0011893	HP:0020064	Abnormal eosinophil count	2	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0011893	HP:0001888	Lymphopenia	2	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional	79
HP:0011893	HP:0011991	Abnormal neutrophil count	2	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia		79
HP:0011893	HP:0011991	Abnormal neutrophil count	2	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0011893	HP:0001880	Eosinophilia	2	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0011893	HP:0011991	Abnormal neutrophil count	2	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0011893	HP:0001913	Granulocytopenia	2	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0011893	HP:0020064	Abnormal eosinophil count	2	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0011893	HP:0012311	Monocytosis	2	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0011893	HP:0010975	Abnormal B cell count	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0011893	HP:0100827	Lymphocytosis	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0011893	HP:0001888	Lymphopenia	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011893	HP:0011839	Abnormal T cell count	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011893	HP:0011991	Abnormal neutrophil count	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011893	HP:0011991	Abnormal neutrophil count	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0011893	HP:0011991	Abnormal neutrophil count	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0011893	HP:0011991	Abnormal neutrophil count	2	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0011893	HP:0001880	Eosinophilia	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0011893	HP:0001888	Lymphopenia	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0011893	HP:0020064	Abnormal eosinophil count	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0011893	HP:0001888	Lymphopenia	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0011893	HP:0011839	Abnormal T cell count	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0011893	HP:0020064	Abnormal eosinophil count	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0011893	HP:0001880	Eosinophilia	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0011893	HP:0020064	Abnormal eosinophil count	2	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0001880	Eosinophilia	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0011893	HP:0020064	Abnormal eosinophil count	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0010975	Abnormal B cell count	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0001888	Lymphopenia	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0011893	HP:0011839	Abnormal T cell count	2	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0100827	Lymphocytosis	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0011893	HP:0011839	Abnormal T cell count	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0001880	Eosinophilia	2	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0011893	HP:0001880	Eosinophilia	2	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0011893	HP:0001888	Lymphopenia	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0011893	HP:0010975	Abnormal B cell count	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0020064	Abnormal eosinophil count	2	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0001880	Eosinophilia	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0011893	HP:0011839	Abnormal T cell count	2	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0100827	Lymphocytosis	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0011893	HP:0020064	Abnormal eosinophil count	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0011839	Abnormal T cell count	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0001888	Lymphopenia	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	114
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0011893	HP:0001888	Lymphopenia	2	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0011893	HP:0011839	Abnormal T cell count	2	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0011893	HP:0010975	Abnormal B cell count	2	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0011893	HP:0010975	Abnormal B cell count	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0011893	HP:0001888	Lymphopenia	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0011893	HP:0100827	Lymphocytosis	2	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0011893	HP:0001888	Lymphopenia	2	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0011893	HP:0011839	Abnormal T cell count	2	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0011893	HP:0011839	Abnormal T cell count	2	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0011893	HP:0001888	Lymphopenia	2	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0011893	HP:0011839	Abnormal T cell count	2	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0011893	HP:0001888	Lymphopenia	2	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0011893	HP:0011839	Abnormal T cell count	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0011893	HP:0001880	Eosinophilia	2	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0011893	HP:0020064	Abnormal eosinophil count	2	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0011893	HP:0011991	Abnormal neutrophil count	2	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1		3
HP:0011893	HP:0001888	Lymphopenia	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0011893	HP:0012311	Monocytosis	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0011893	HP:0011991	Abnormal neutrophil count	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0011893	HP:0011991	Abnormal neutrophil count	2	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities		29
HP:0011893	HP:0011991	Abnormal neutrophil count	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0011893	HP:0011991	Abnormal neutrophil count	2	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent	137
HP:0011893	HP:0011991	Abnormal neutrophil count	2	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0011893	HP:0012312	Monocytopenia	2	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0011893	HP:0001888	Lymphopenia	2	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0011893	HP:0011839	Abnormal T cell count	2	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0011893	HP:0001888	Lymphopenia	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	56
HP:0011893	HP:0020064	Abnormal eosinophil count	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0011893	HP:0001880	Eosinophilia	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0011893	HP:0012311	Monocytosis	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	56
HP:0011893	HP:0011991	Abnormal neutrophil count	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0011893	HP:0011991	Abnormal neutrophil count	2	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0011893	HP:0001888	Lymphopenia	2	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0011893	HP:0010975	Abnormal B cell count	2	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0011893	HP:0012311	Monocytosis	2	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant	.	56
HP:0011893	HP:0011991	Abnormal neutrophil count	2	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0011893	HP:0011991	Abnormal neutrophil count	2	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0011893	HP:0001888	Lymphopenia	2	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0011893	HP:0011991	Abnormal neutrophil count	2	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0011893	HP:0011991	Abnormal neutrophil count	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0011893	HP:0011991	Abnormal neutrophil count	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0011893	HP:0011991	Abnormal neutrophil count	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0011893	HP:0001888	Lymphopenia	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0011893	HP:0011991	Abnormal neutrophil count	2	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0011893	HP:0001888	Lymphopenia	2	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	6
HP:0011893	HP:0011839	Abnormal T cell count	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0011893	HP:0020064	Abnormal eosinophil count	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0011893	HP:0011839	Abnormal T cell count	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0011893	HP:0001880	Eosinophilia	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare	2
HP:0011893	HP:0100827	Lymphocytosis	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0011893	HP:0011991	Abnormal neutrophil count	2	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0011893	HP:0011991	Abnormal neutrophil count	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0011893	HP:0010975	Abnormal B cell count	2	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011893	HP:0001888	Lymphopenia	2	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0011893	HP:0011991	Abnormal neutrophil count	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0011893	HP:0010975	Abnormal B cell count	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0011893	HP:0001888	Lymphopenia	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0011893	HP:0001888	Lymphopenia	2	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0011893	HP:0011991	Abnormal neutrophil count	2	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0011893	HP:0010975	Abnormal B cell count	2	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0011893	HP:0011991	Abnormal neutrophil count	2	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0011893	HP:0001888	Lymphopenia	2	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0011893	HP:0011991	Abnormal neutrophil count	2	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0011893	HP:0001888	Lymphopenia	2	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0011893	HP:0010975	Abnormal B cell count	2	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0011893	HP:0011991	Abnormal neutrophil count	2	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0011893	HP:0001888	Lymphopenia	2	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0011839	Abnormal T cell count	2	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0010975	Abnormal B cell count	2	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0010975	Abnormal B cell count	2	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0011893	HP:0011991	Abnormal neutrophil count	2	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0011893	HP:0001888	Lymphopenia	2	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0011893	HP:0001880	Eosinophilia	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent	52
HP:0011893	HP:0020064	Abnormal eosinophil count	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0011893	HP:0001880	Eosinophilia	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0011893	HP:0020064	Abnormal eosinophil count	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0011893	HP:0010975	Abnormal B cell count	2	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0011893	HP:0001888	Lymphopenia	2	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0011893	HP:0001888	Lymphopenia	2	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0011893	HP:0010975	Abnormal B cell count	2	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0011893	HP:0011991	Abnormal neutrophil count	2	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0011893	HP:0010975	Abnormal B cell count	2	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0011893	HP:0011839	Abnormal T cell count	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011893	HP:0001888	Lymphopenia	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011893	HP:0010975	Abnormal B cell count	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011893	HP:0011839	Abnormal T cell count	2	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0011893	HP:0001888	Lymphopenia	2	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0011893	HP:0011839	Abnormal T cell count	2	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0011893	HP:0020064	Abnormal eosinophil count	2	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome		48
HP:0011893	HP:0001880	Eosinophilia	2	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	48
HP:0011893	HP:0011839	Abnormal T cell count	2	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0011893	HP:0001888	Lymphopenia	2	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0011893	HP:0011839	Abnormal T cell count	2	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0011893	HP:0001888	Lymphopenia	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:0011893	HP:0011991	Abnormal neutrophil count	2	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0011893	HP:0010975	Abnormal B cell count	2	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0011893	HP:0001888	Lymphopenia	2	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0011893	HP:0001880	Eosinophilia	2	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0011893	HP:0020064	Abnormal eosinophil count	2	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0011893	HP:0001888	Lymphopenia	2	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0011893	HP:0011839	Abnormal T cell count	2	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0011893	HP:0020064	Abnormal eosinophil count	2	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome		94
HP:0011893	HP:0001880	Eosinophilia	2	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0011893	HP:0011839	Abnormal T cell count	2	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:0011893	HP:0001888	Lymphopenia	2	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:0011893	HP:0020064	Abnormal eosinophil count	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0011893	HP:0001888	Lymphopenia	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:0011893	HP:0011991	Abnormal neutrophil count	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0011893	HP:0001880	Eosinophilia	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0011893	HP:0100827	Lymphocytosis	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0011893	HP:0011839	Abnormal T cell count	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0011893	HP:0020064	Abnormal eosinophil count	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011893	HP:0001880	Eosinophilia	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011893	HP:0001888	Lymphopenia	2	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0011893	HP:0011991	Abnormal neutrophil count	2	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0011893	HP:0011991	Abnormal neutrophil count	2	IRAK4 CL E G H	51135	17967	ORPHA:70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency		58
HP:0011893	HP:0011991	Abnormal neutrophil count	2	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0011893	HP:0001888	Lymphopenia	2	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	4
HP:0011893	HP:0010975	Abnormal B cell count	2	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0011893	HP:0011991	Abnormal neutrophil count	2	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0011893	HP:0020064	Abnormal eosinophil count	2	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0011893	HP:0001880	Eosinophilia	2	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0011893	HP:0012312	Monocytopenia	2	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0011893	HP:0011991	Abnormal neutrophil count	2	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0011893	HP:0011839	Abnormal T cell count	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0011893	HP:0001888	Lymphopenia	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0011893	HP:0001888	Lymphopenia	2	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0011893	HP:0010975	Abnormal B cell count	2	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0011893	HP:0011839	Abnormal T cell count	2	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0011893	HP:0011991	Abnormal neutrophil count	2	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive		8
HP:0011893	HP:0020064	Abnormal eosinophil count	2	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0011893	HP:0001880	Eosinophilia	2	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0011893	HP:0011839	Abnormal T cell count	2	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0011893	HP:0001888	Lymphopenia	2	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0011893	HP:0010975	Abnormal B cell count	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0011893	HP:0001888	Lymphopenia	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040282 - Frequent	140
HP:0011893	HP:0011839	Abnormal T cell count	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0011893	HP:0001880	Eosinophilia	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0011893	HP:0020064	Abnormal eosinophil count	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0011893	HP:0011991	Abnormal neutrophil count	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0011893	HP:0031806	Abnormal basophil count	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0011893	HP:0011839	Abnormal T cell count	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0011893	HP:0010975	Abnormal B cell count	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0011893	HP:0001888	Lymphopenia	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0011893	HP:0100827	Lymphocytosis	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0011893	HP:0012311	Monocytosis	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0011893	HP:0011991	Abnormal neutrophil count	2	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency		1
HP:0011893	HP:0001888	Lymphopenia	2	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0011893	HP:0011839	Abnormal T cell count	2	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0011893	HP:0011991	Abnormal neutrophil count	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0011893	HP:0001888	Lymphopenia	2	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0011893	HP:0011839	Abnormal T cell count	2	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0011893	HP:0011839	Abnormal T cell count	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011893	HP:0010975	Abnormal B cell count	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011893	HP:0001888	Lymphopenia	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0011893	HP:0011839	Abnormal T cell count	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0011893	HP:0011839	Abnormal T cell count	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0011893	HP:0001888	Lymphopenia	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0011893	HP:0011839	Abnormal T cell count	2	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0011893	HP:0020064	Abnormal eosinophil count	2	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome		88
HP:0011893	HP:0001880	Eosinophilia	2	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	88
HP:0011893	HP:0011991	Abnormal neutrophil count	2	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0011893	HP:0011991	Abnormal neutrophil count	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0011893	HP:0100827	Lymphocytosis	2	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040282 - Frequent	11
HP:0011893	HP:0010975	Abnormal B cell count	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011893	HP:0001888	Lymphopenia	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011893	HP:0011991	Abnormal neutrophil count	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011893	HP:0011991	Abnormal neutrophil count	2	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0011893	HP:0011991	Abnormal neutrophil count	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0011893	HP:0011991	Abnormal neutrophil count	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0011893	HP:0011991	Abnormal neutrophil count	2	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0011893	HP:0001888	Lymphopenia	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:0011893	HP:0011839	Abnormal T cell count	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:0011893	HP:0010975	Abnormal B cell count	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0011893	HP:0011839	Abnormal T cell count	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0011893	HP:0001888	Lymphopenia	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0011893	HP:0001888	Lymphopenia	2	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0011893	HP:0011991	Abnormal neutrophil count	2	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0011893	HP:0011991	Abnormal neutrophil count	2	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0011893	HP:0011991	Abnormal neutrophil count	2	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0011893	HP:0011991	Abnormal neutrophil count	2	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0011893	HP:0011991	Abnormal neutrophil count	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0011893	HP:0011991	Abnormal neutrophil count	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0011893	HP:0011991	Abnormal neutrophil count	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0011893	HP:0011991	Abnormal neutrophil count	2	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0011893	HP:0011991	Abnormal neutrophil count	2	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0011893	HP:0011991	Abnormal neutrophil count	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0011893	HP:0001888	Lymphopenia	2	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0011893	HP:0001888	Lymphopenia	2	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50	.	2
HP:0011893	HP:0011991	Abnormal neutrophil count	2	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0011893	HP:0001888	Lymphopenia	2	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0011893	HP:0011991	Abnormal neutrophil count	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0011893	HP:0011991	Abnormal neutrophil count	2	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0011893	HP:0011839	Abnormal T cell count	2	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0011893	HP:0001888	Lymphopenia	2	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0011893	HP:0010975	Abnormal B cell count	2	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0011893	HP:0001888	Lymphopenia	2	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0011893	HP:0011991	Abnormal neutrophil count	2	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0011893	HP:0001888	Lymphopenia	2	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0011893	HP:0010975	Abnormal B cell count	2	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0011893	HP:0011991	Abnormal neutrophil count	2	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0011893	HP:0010975	Abnormal B cell count	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0011893	HP:0001888	Lymphopenia	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0011893	HP:0011839	Abnormal T cell count	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0011893	HP:0100827	Lymphocytosis	2	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0011893	HP:0011839	Abnormal T cell count	2	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0011893	HP:0010975	Abnormal B cell count	2	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0011893	HP:0011991	Abnormal neutrophil count	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0011893	HP:0001888	Lymphopenia	2	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	7
HP:0011893	HP:0001888	Lymphopenia	2	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	11
HP:0011893	HP:0001888	Lymphopenia	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0011893	HP:0010975	Abnormal B cell count	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0011893	HP:0001888	Lymphopenia	2	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0011893	HP:0010975	Abnormal B cell count	2	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0011893	HP:0011839	Abnormal T cell count	2	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0011893	HP:0001880	Eosinophilia	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0011893	HP:0020064	Abnormal eosinophil count	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0011893	HP:0001880	Eosinophilia	2	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0011893	HP:0020064	Abnormal eosinophil count	2	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0011893	HP:0011991	Abnormal neutrophil count	2	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0011893	HP:0020064	Abnormal eosinophil count	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0011893	HP:0001888	Lymphopenia	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0011893	HP:0100827	Lymphocytosis	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0011893	HP:0012311	Monocytosis	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0011893	HP:0011991	Abnormal neutrophil count	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0011893	HP:0011839	Abnormal T cell count	2	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0011893	HP:0001888	Lymphopenia	2	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0011893	HP:0011991	Abnormal neutrophil count	2	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0011893	HP:0011991	Abnormal neutrophil count	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0011893	HP:0011839	Abnormal T cell count	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0011893	HP:0011991	Abnormal neutrophil count	2	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0011893	HP:0011991	Abnormal neutrophil count	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0011893	HP:0011991	Abnormal neutrophil count	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0011893	HP:0020064	Abnormal eosinophil count	2	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0011893	HP:0001880	Eosinophilia	2	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0011893	HP:0020064	Abnormal eosinophil count	2	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0011893	HP:0001880	Eosinophilia	2	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia	.	28
HP:0011893	HP:0001888	Lymphopenia	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0011893	HP:0011991	Abnormal neutrophil count	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0011893	HP:0020064	Abnormal eosinophil count	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0011893	HP:0001880	Eosinophilia	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0011893	HP:0020064	Abnormal eosinophil count	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0011893	HP:0011839	Abnormal T cell count	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0011893	HP:0011991	Abnormal neutrophil count	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0011893	HP:0001888	Lymphopenia	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0011893	HP:0001880	Eosinophilia	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0011893	HP:0001888	Lymphopenia	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0011893	HP:0010975	Abnormal B cell count	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0011893	HP:0001888	Lymphopenia	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0011893	HP:0011839	Abnormal T cell count	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0011893	HP:0001888	Lymphopenia	2	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0011893	HP:0010975	Abnormal B cell count	2	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0011893	HP:0011839	Abnormal T cell count	2	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0011893	HP:0001888	Lymphopenia	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0011893	HP:0010975	Abnormal B cell count	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0011893	HP:0011991	Abnormal neutrophil count	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0011893	HP:0012311	Monocytosis	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0011893	HP:0012312	Monocytopenia	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0001888	Lymphopenia	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0020064	Abnormal eosinophil count	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0011991	Abnormal neutrophil count	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0011839	Abnormal T cell count	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0001880	Eosinophilia	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0011991	Abnormal neutrophil count	2	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0011893	HP:0011991	Abnormal neutrophil count	2	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0011893	HP:0001888	Lymphopenia	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	.	43
HP:0011893	HP:0011839	Abnormal T cell count	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0011893	HP:0010975	Abnormal B cell count	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0011893	HP:0010975	Abnormal B cell count	2	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0011893	HP:0011991	Abnormal neutrophil count	2	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0011893	HP:0011991	Abnormal neutrophil count	2	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0011893	HP:0001888	Lymphopenia	2	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0011893	HP:0011839	Abnormal T cell count	2	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0011893	HP:0001888	Lymphopenia	2	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040283 - Occasional	52
HP:0011893	HP:0010975	Abnormal B cell count	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0011893	HP:0011839	Abnormal T cell count	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0011893	HP:0001888	Lymphopenia	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0011893	HP:0011991	Abnormal neutrophil count	2	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0011893	HP:0011991	Abnormal neutrophil count	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0011893	HP:0011991	Abnormal neutrophil count	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0011893	HP:0011991	Abnormal neutrophil count	2	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0011893	HP:0010975	Abnormal B cell count	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0011893	HP:0001888	Lymphopenia	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0011893	HP:0011991	Abnormal neutrophil count	2	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0011893	HP:0001880	Eosinophilia	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0011893	HP:0011839	Abnormal T cell count	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0011893	HP:0001888	Lymphopenia	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0011893	HP:0020064	Abnormal eosinophil count	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0011893	HP:0011991	Abnormal neutrophil count	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0011893	HP:0010975	Abnormal B cell count	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0011893	HP:0100827	Lymphocytosis	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0011893	HP:0010975	Abnormal B cell count	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0011893	HP:0100827	Lymphocytosis	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0011893	HP:0001888	Lymphopenia	2	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0011893	HP:0001888	Lymphopenia	2	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0011893	HP:0001888	Lymphopenia	2	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0011893	HP:0001888	Lymphopenia	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	HP:0040284 - Very rare	948
HP:0011893	HP:0001888	Lymphopenia	2	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	HP:0040284 - Very rare	948
HP:0011893	HP:0001888	Lymphopenia	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0011893	HP:0010975	Abnormal B cell count	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0011893	HP:0100827	Lymphocytosis	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0011893	HP:0011839	Abnormal T cell count	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0011893	HP:0001888	Lymphopenia	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0011893	HP:0010975	Abnormal B cell count	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0011893	HP:0012312	Monocytopenia	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0011893	HP:0011839	Abnormal T cell count	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0011893	HP:0001888	Lymphopenia	2	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0011893	HP:0010975	Abnormal B cell count	2	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0011893	HP:0011839	Abnormal T cell count	2	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0011893	HP:0011839	Abnormal T cell count	2	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0011893	HP:0001888	Lymphopenia	2	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0011893	HP:0011839	Abnormal T cell count	2	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0011893	HP:0010975	Abnormal B cell count	2	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0011893	HP:0011839	Abnormal T cell count	2	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0011893	HP:0001888	Lymphopenia	2	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0011893	HP:0010975	Abnormal B cell count	2	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0011893	HP:0020064	Abnormal eosinophil count	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0011893	HP:0010975	Abnormal B cell count	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0011893	HP:0001880	Eosinophilia	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0011893	HP:0001880	Eosinophilia	2	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	127
HP:0011893	HP:0020064	Abnormal eosinophil count	2	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome		127
HP:0011893	HP:0001888	Lymphopenia	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0011893	HP:0001888	Lymphopenia	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0011893	HP:0001880	Eosinophilia	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	127
HP:0011893	HP:0011839	Abnormal T cell count	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	127
HP:0011893	HP:0020064	Abnormal eosinophil count	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0011893	HP:0010975	Abnormal B cell count	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	127
HP:0011893	HP:0010975	Abnormal B cell count	2	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:0011893	HP:0011839	Abnormal T cell count	2	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:0011893	HP:0001888	Lymphopenia	2	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:0011893	HP:0011839	Abnormal T cell count	2	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0011893	HP:0010975	Abnormal B cell count	2	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0011893	HP:0001888	Lymphopenia	2	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0011893	HP:0001880	Eosinophilia	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0011893	HP:0020064	Abnormal eosinophil count	2	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome		50
HP:0011893	HP:0010975	Abnormal B cell count	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0011893	HP:0001880	Eosinophilia	2	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	50
HP:0011893	HP:0020064	Abnormal eosinophil count	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0011893	HP:0001888	Lymphopenia	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0011893	HP:0011839	Abnormal T cell count	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	50
HP:0011893	HP:0020064	Abnormal eosinophil count	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0011893	HP:0001888	Lymphopenia	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0011893	HP:0010975	Abnormal B cell count	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	50
HP:0011893	HP:0001880	Eosinophilia	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	50
HP:0011893	HP:0001888	Lymphopenia	2	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:0011893	HP:0011839	Abnormal T cell count	2	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:0011893	HP:0010975	Abnormal B cell count	2	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:0011893	HP:0011991	Abnormal neutrophil count	2	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0011893	HP:0010975	Abnormal B cell count	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011893	HP:0020064	Abnormal eosinophil count	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011893	HP:0100827	Lymphocytosis	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0011893	HP:0001880	Eosinophilia	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0011893	HP:0001888	Lymphopenia	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0011893	HP:0011839	Abnormal T cell count	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011893	HP:0010975	Abnormal B cell count	2	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0011893	HP:0011839	Abnormal T cell count	2	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0011893	HP:0001880	Eosinophilia	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0011893	HP:0020064	Abnormal eosinophil count	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0011893	HP:0001888	Lymphopenia	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0011893	HP:0100827	Lymphocytosis	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0011893	HP:0010975	Abnormal B cell count	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0011893	HP:0011839	Abnormal T cell count	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0011893	HP:0001888	Lymphopenia	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0011893	HP:0001888	Lymphopenia	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0011893	HP:0011839	Abnormal T cell count	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0011893	HP:0011839	Abnormal T cell count	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0011893	HP:0001888	Lymphopenia	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0011893	HP:0011839	Abnormal T cell count	2	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0011893	HP:0010975	Abnormal B cell count	2	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0011893	HP:0001888	Lymphopenia	2	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0011893	HP:0001888	Lymphopenia	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0011893	HP:0001880	Eosinophilia	2	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	37
HP:0011893	HP:0020064	Abnormal eosinophil count	2	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome		37
HP:0011893	HP:0100827	Lymphocytosis	2	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2	.	34
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0011893	HP:0001880	Eosinophilia	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0011893	HP:0020064	Abnormal eosinophil count	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0011893	HP:0020064	Abnormal eosinophil count	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0011893	HP:0001880	Eosinophilia	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0011893	HP:0001888	Lymphopenia	2	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0011893	HP:0011839	Abnormal T cell count	2	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011893	HP:0001913	Granulocytopenia	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.	1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0011893	HP:0001888	Lymphopenia	2	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis		181
HP:0011893	HP:0001888	Lymphopenia	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0011839	Abnormal T cell count	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0001888	Lymphopenia	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0010975	Abnormal B cell count	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5		2
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0011893	HP:0001913	Granulocytopenia	2	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0011893	HP:0001888	Lymphopenia	2	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.	8
HP:0011893	HP:0100827	Lymphocytosis	2	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	37
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0011893	HP:0001888	Lymphopenia	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0011893	HP:0001888	Lymphopenia	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0011893	HP:0020064	Abnormal eosinophil count	2	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome		26
HP:0011893	HP:0001880	Eosinophilia	2	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome	HP:0040281 - Very frequent	26
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG		24
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0011893	HP:0010975	Abnormal B cell count	2	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0011893	HP:0001888	Lymphopenia	2	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary		101
HP:0011893	HP:0001880	Eosinophilia	2	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040283 - Occasional	101
HP:0011893	HP:0020064	Abnormal eosinophil count	2	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0011893	HP:0001888	Lymphopenia	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0011893	HP:0011839	Abnormal T cell count	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0011893	HP:0001888	Lymphopenia	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0011893	HP:0010975	Abnormal B cell count	2	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0011893	HP:0001888	Lymphopenia	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0011893	HP:0010975	Abnormal B cell count	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0011893	HP:0011839	Abnormal T cell count	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0011893	HP:0001888	Lymphopenia	2	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0011893	HP:0010975	Abnormal B cell count	2	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0011893	HP:0020064	Abnormal eosinophil count	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0011893	HP:0001880	Eosinophilia	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0011893	HP:0001888	Lymphopenia	2	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0011893	HP:0001888	Lymphopenia	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011893	HP:0020064	Abnormal eosinophil count	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0011893	HP:0001880	Eosinophilia	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0011893	HP:0012311	Monocytosis	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0011893	HP:0001888	Lymphopenia	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0011893	HP:0020064	Abnormal eosinophil count	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0011893	HP:0001880	Eosinophilia	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0011893	HP:0031806	Abnormal basophil count	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0011893	HP:0020064	Abnormal eosinophil count	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0011893	HP:0001880	Eosinophilia	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0011893	HP:0010975	Abnormal B cell count	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0011893	HP:0001888	Lymphopenia	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0011893	HP:0001888	Lymphopenia	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	.	89
HP:0011893	HP:0001888	Lymphopenia	2	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0011893	HP:0011991	Abnormal neutrophil count	2	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0011893	HP:0011991	Abnormal neutrophil count	2	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0011893	HP:0020064	Abnormal eosinophil count	2	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0011893	HP:0001880	Eosinophilia	2	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent	110
HP:0011893	HP:0001880	Eosinophilia	2	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0011893	HP:0020064	Abnormal eosinophil count	2	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0011893	HP:0001888	Lymphopenia	2	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent	2
HP:0011893	HP:0011991	Abnormal neutrophil count	2	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0011893	HP:0001888	Lymphopenia	2	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011893	HP:0011991	Abnormal neutrophil count	2	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0011893	HP:0001888	Lymphopenia	2	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS	.	4
HP:0011893	HP:0011991	Abnormal neutrophil count	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0011893	HP:0011991	Abnormal neutrophil count	2	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0011893	HP:0011991	Abnormal neutrophil count	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0011893	HP:0011839	Abnormal T cell count	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0011893	HP:0010975	Abnormal B cell count	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0011893	HP:0001888	Lymphopenia	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0011893	HP:0001913	Granulocytopenia	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis		20
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0011893	HP:0001880	Eosinophilia	2	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0011893	HP:0020064	Abnormal eosinophil count	2	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0011893	HP:0001888	Lymphopenia	2	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0011893	HP:0010975	Abnormal B cell count	2	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0011893	HP:0001888	Lymphopenia	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011893	HP:0010975	Abnormal B cell count	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011893	HP:0011839	Abnormal T cell count	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0011893	HP:0012311	Monocytosis	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	82
HP:0011893	HP:0001888	Lymphopenia	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	82
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0011893	HP:0001880	Eosinophilia	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0011893	HP:0020064	Abnormal eosinophil count	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0011893	HP:0001888	Lymphopenia	2	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040282 - Frequent	57
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23		3
HP:0011893	HP:0001888	Lymphopenia	2	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	48
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0011893	HP:0001888	Lymphopenia	2	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	238
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0011893	HP:0001913	Granulocytopenia	2	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis		3
HP:0011893	HP:0010975	Abnormal B cell count	2	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia		3
HP:0011893	HP:0001880	Eosinophilia	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0011893	HP:0020064	Abnormal eosinophil count	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0011893	HP:0031806	Abnormal basophil count	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0011893	HP:0001888	Lymphopenia	2	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.	67
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis		6
HP:0011893	HP:0001888	Lymphopenia	2	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	60
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis		3
HP:0011893	HP:0001888	Lymphopenia	2	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0011893	HP:0010975	Abnormal B cell count	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0011893	HP:0001913	Granulocytopenia	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0011893	HP:0001888	Lymphopenia	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0011893	HP:0001888	Lymphopenia	2	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0011893	HP:0001888	Lymphopenia	2	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0011893	HP:0001888	Lymphopenia	2	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	12
HP:0011893	HP:0001888	Lymphopenia	2	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0011893	HP:0001888	Lymphopenia	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0011893	HP:0010975	Abnormal B cell count	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0011893	HP:0010975	Abnormal B cell count	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011893	HP:0001888	Lymphopenia	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011893	HP:0011839	Abnormal T cell count	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0011893	HP:0020064	Abnormal eosinophil count	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0011893	HP:0001888	Lymphopenia	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0011893	HP:0001888	Lymphopenia	2	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0040281 - Very frequent
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0011893	HP:0001880	Eosinophilia	2	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0011893	HP:0020064	Abnormal eosinophil count	2	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis		2
HP:0011893	HP:0010975	Abnormal B cell count	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0011893	HP:0001888	Lymphopenia	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0011893	HP:0011991	Abnormal neutrophil count	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011893	HP:0001888	Lymphopenia	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0011893	HP:0001888	Lymphopenia	2	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0011893	HP:0011991	Abnormal neutrophil count	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0011893	HP:0001888	Lymphopenia	2	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0011893	HP:0011839	Abnormal T cell count	2	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0011893	HP:0010975	Abnormal B cell count	2	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0011893	HP:0011991	Abnormal neutrophil count	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0011893	HP:0001913	Granulocytopenia	2	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0011893	HP:0011991	Abnormal neutrophil count	2	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis		5
HP:0011893	HP:0011991	Abnormal neutrophil count	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0011893	HP:0020064	Abnormal eosinophil count	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0011893	HP:0001888	Lymphopenia	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0011893	HP:0001888	Lymphopenia	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0011893	HP:0020064	Abnormal eosinophil count	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0011893	HP:0011991	Abnormal neutrophil count	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0011893	HP:0011991	Abnormal neutrophil count	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0011893	HP:0011991	Abnormal neutrophil count	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0011893	HP:0011991	Abnormal neutrophil count	2	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0011893	HP:0011839	Abnormal T cell count	2	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0011893	HP:0011991	Abnormal neutrophil count	2	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0011893	HP:0012312	Monocytopenia	2	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0011893	HP:0020064	Abnormal eosinophil count	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0011991	Abnormal neutrophil count	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0001888	Lymphopenia	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0011893	HP:0001888	Lymphopenia	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	65
HP:0011893	HP:0001880	Eosinophilia	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0011839	Abnormal T cell count	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0011991	Abnormal neutrophil count	2	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0011893	HP:0012312	Monocytopenia	2	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia	HP:0040281 - Very frequent	65
HP:0011893	HP:0011839	Abnormal T cell count	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0011893	HP:0001888	Lymphopenia	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0011893	HP:0010975	Abnormal B cell count	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0011893	HP:0011991	Abnormal neutrophil count	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0011893	HP:0011991	Abnormal neutrophil count	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0011893	HP:0001888	Lymphopenia	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	6
HP:0011893	HP:0011839	Abnormal T cell count	2	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0011893	HP:0001888	Lymphopenia	2	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0011893	HP:0011991	Abnormal neutrophil count	2	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0011893	HP:0100827	Lymphocytosis	2	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	81
HP:0011893	HP:0001888	Lymphopenia	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0011893	HP:0011839	Abnormal T cell count	2	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0011893	HP:0001880	Eosinophilia	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0011893	HP:0011839	Abnormal T cell count	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0011893	HP:0100827	Lymphocytosis	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0011893	HP:0020064	Abnormal eosinophil count	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0011893	HP:0001888	Lymphopenia	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0011893	HP:0001888	Lymphopenia	2	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0011893	HP:0011839	Abnormal T cell count	2	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0011893	HP:0011991	Abnormal neutrophil count	2	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0011893	HP:0001888	Lymphopenia	2	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	9
HP:0011893	HP:0001880	Eosinophilia	2	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	HP:0040284 - Very rare	1
HP:0011893	HP:0020064	Abnormal eosinophil count	2	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0011893	HP:0012311	Monocytosis	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0011893	HP:0011991	Abnormal neutrophil count	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0011893	HP:0032236	Increased circulating immature neutrophil count	3	CL E G H
HP:0011893	HP:0032151	Episodic eosinophilia	3	CL E G H
HP:0011893	HP:0001875	Neutropenia	3	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0011893	HP:0005403	T lymphocytopenia	3	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0011893	HP:0001875	Neutropenia	3	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0011893	HP:0001880	Eosinophilia	3	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	75
HP:0011893	HP:0005403	T lymphocytopenia	3	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0011893	HP:0010976	B lymphocytopenia	3	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0011893	HP:0010976	B lymphocytopenia	3	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:0011893	HP:0001880	Eosinophilia	3	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:0011893	HP:0001875	Neutropenia	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0011893	HP:0001875	Neutropenia	3	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0011893	HP:0012234	Agranulocytosis	3	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0011893	HP:0010976	B lymphocytopenia	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0011893	HP:0001875	Neutropenia	3	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040282 - Frequent	25
HP:0011893	HP:0001875	Neutropenia	3	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional	2
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0011893	HP:0001875	Neutropenia	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0011893	HP:0001875	Neutropenia	3	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0011893	HP:0010976	B lymphocytopenia	3	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0011893	HP:0001875	Neutropenia	3	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	145
HP:0011893	HP:0011897	Neutrophilia	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0011893	HP:0031807	Increased basophil count	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0011893	HP:0001880	Eosinophilia	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0011893	HP:0005403	T lymphocytopenia	3	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0011893	HP:0010976	B lymphocytopenia	3	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0011893	HP:0001875	Neutropenia	3	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome	HP:0040281 - Very frequent	169
HP:0011893	HP:0031891	Decreased eosinophil count	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0011893	HP:0010976	B lymphocytopenia	3	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0011893	HP:0031808	Decreased basophil count	3	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0011893	HP:0001880	Eosinophilia	3	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0011893	HP:0001880	Eosinophilia	3	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	HP:0040284 - Very rare	3
HP:0011893	HP:0001875	Neutropenia	3	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	101
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0011893	HP:0001875	Neutropenia	3	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive	.	4
HP:0011893	HP:0001875	Neutropenia	3	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	4
HP:0011893	HP:0031891	Decreased eosinophil count	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0011893	HP:0010976	B lymphocytopenia	3	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0011893	HP:0001875	Neutropenia	3	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0011893	HP:0010976	B lymphocytopenia	3	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0011893	HP:0001875	Neutropenia	3	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040282 - Frequent	109
HP:0011893	HP:0001880	Eosinophilia	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare	1
HP:0011893	HP:0100828	Increased T cell count	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	1
HP:0011893	HP:0001875	Neutropenia	3	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0011893	HP:0001880	Eosinophilia	3	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A	.	323
HP:0011893	HP:0031891	Decreased eosinophil count	3	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0011893	HP:0005404	Increased B cell count	3	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0011893	HP:0001880	Eosinophilia	3	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis	.	45
HP:0011893	HP:0001880	Eosinophilia	3	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0011893	HP:0032061	Hypereosinophilia	3	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0011893	HP:0001875	Neutropenia	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0011893	HP:0001875	Neutropenia	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0011893	HP:0005404	Increased B cell count	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0011893	HP:0001880	Eosinophilia	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0011893	HP:0005403	T lymphocytopenia	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0011893	HP:0005404	Increased B cell count	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0011893	HP:0001880	Eosinophilia	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0011893	HP:0001875	Neutropenia	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0011893	HP:0001875	Neutropenia	3	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	317
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0011893	HP:0005403	T lymphocytopenia	3	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0011893	HP:0001880	Eosinophilia	3	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0011893	HP:0001880	Eosinophilia	3	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0011893	HP:0001880	Eosinophilia	3	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0011893	HP:0001880	Eosinophilia	3	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0011893	HP:0005403	T lymphocytopenia	3	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0011893	HP:0001875	Neutropenia	3	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3	.	27
HP:0011893	HP:0001875	Neutropenia	3	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0011893	HP:0001875	Neutropenia	3	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive	HP:0040283 - Occasional	9
HP:0011893	HP:0001875	Neutropenia	3	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	9
HP:0011893	HP:0010976	B lymphocytopenia	3	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0011893	HP:0001875	Neutropenia	3	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	6
HP:0011893	HP:0005403	T lymphocytopenia	3	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0011893	HP:0001875	Neutropenia	3	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0011893	HP:0031891	Decreased eosinophil count	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0011893	HP:0001880	Eosinophilia	3	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0011893	HP:0001880	Eosinophilia	3	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	515
HP:0011893	HP:0001875	Neutropenia	3	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0011893	HP:0005403	T lymphocytopenia	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0011893	HP:0001875	Neutropenia	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0011893	HP:0001875	Neutropenia	3	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040281 - Very frequent	38
HP:0011893	HP:0001875	Neutropenia	3	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	HP:0040281 - Very frequent	38
HP:0011893	HP:0001875	Neutropenia	3	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0011893	HP:0001880	Eosinophilia	3	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0011893	HP:0001875	Neutropenia	3	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040280 - Obligate	38
HP:0011893	HP:0001875	Neutropenia	3	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0011893	HP:0001875	Neutropenia	3	CSF3R CL E G H	1441	2439	OMIM:617014	Neutropenia, severe congenital, 7, autosomal recessive	.	34
HP:0011893	HP:0011897	Neutrophilia	3	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary	.	34
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0011893	HP:0001875	Neutropenia	3	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040282 - Frequent	273
HP:0011893	HP:0001875	Neutropenia	3	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0011893	HP:0001875	Neutropenia	3	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0011893	HP:0001875	Neutropenia	3	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040281 - Very frequent	9
HP:0011893	HP:0001880	Eosinophilia	3	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0011893	HP:0010976	B lymphocytopenia	3	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0011893	HP:0001880	Eosinophilia	3	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0011893	HP:0031545	Abnormally low T cell receptor excision circle level	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0011893	HP:0010976	B lymphocytopenia	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0011893	HP:0001880	Eosinophilia	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011893	HP:0001875	Neutropenia	3	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	5
HP:0011893	HP:0001875	Neutropenia	3	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0011893	HP:0005403	T lymphocytopenia	3	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0011893	HP:0005403	T lymphocytopenia	3	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0011893	HP:0005403	T lymphocytopenia	3	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0011893	HP:0010976	B lymphocytopenia	3	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0011893	HP:0001880	Eosinophilia	3	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0011893	HP:0005403	T lymphocytopenia	3	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0011893	HP:0001875	Neutropenia	3	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	1
HP:0011893	HP:0001875	Neutropenia	3	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.	1
HP:0011893	HP:0001875	Neutropenia	3	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040282 - Frequent	65
HP:0011893	HP:0001880	Eosinophilia	3	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0011893	HP:0001875	Neutropenia	3	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040280 - Obligate	79
HP:0011893	HP:0001875	Neutropenia	3	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia	.	79
HP:0011893	HP:0001875	Neutropenia	3	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0011893	HP:0031891	Decreased eosinophil count	3	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional	79
HP:0011893	HP:0001880	Eosinophilia	3	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0011893	HP:0001875	Neutropenia	3	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0011893	HP:0012234	Agranulocytosis	3	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011893	HP:0001875	Neutropenia	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011893	HP:0005403	T lymphocytopenia	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011893	HP:0001875	Neutropenia	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0011893	HP:0001875	Neutropenia	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0011893	HP:0001875	Neutropenia	3	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5	HP:0040283 - Occasional	13
HP:0011893	HP:0001880	Eosinophilia	3	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0011893	HP:0005403	T lymphocytopenia	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0011893	HP:0001880	Eosinophilia	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0011893	HP:0032061	Hypereosinophilia	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0011893	HP:0001875	Neutropenia	3	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0011893	HP:0001875	Neutropenia	3	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0011893	HP:0001875	Neutropenia	3	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0011893	HP:0001875	Neutropenia	3	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0011893	HP:0001875	Neutropenia	3	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0011893	HP:0001875	Neutropenia	3	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0011893	HP:0001880	Eosinophilia	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0011893	HP:0005403	T lymphocytopenia	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0005404	Increased B cell count	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0011893	HP:0001880	Eosinophilia	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0011893	HP:0001875	Neutropenia	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0001875	Neutropenia	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0001880	Eosinophilia	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0005403	T lymphocytopenia	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0001875	Neutropenia	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0005404	Increased B cell count	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0011893	HP:0001880	Eosinophilia	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0011893	HP:0001875	Neutropenia	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0001875	Neutropenia	3	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	HP:0040283 - Occasional	384
HP:0011893	HP:0001875	Neutropenia	3	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0011893	HP:0001875	Neutropenia	3	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0011893	HP:0005403	T lymphocytopenia	3	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0011893	HP:0010976	B lymphocytopenia	3	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0011893	HP:0001875	Neutropenia	3	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	HP:0040284 - Very rare
HP:0011893	HP:0001875	Neutropenia	3	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0011893	HP:0001875	Neutropenia	3	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0011893	HP:0001875	Neutropenia	3	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria	.	55
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0011893	HP:0001875	Neutropenia	3	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0011893	HP:0010976	B lymphocytopenia	3	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0011893	HP:0005403	T lymphocytopenia	3	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency	HP:0040281 - Very frequent	54
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0011893	HP:0005403	T lymphocytopenia	3	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.	54
HP:0011893	HP:0005403	T lymphocytopenia	3	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0011893	HP:0031545	Abnormally low T cell receptor excision circle level	3	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0011893	HP:0001875	Neutropenia	3	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0011893	HP:0001875	Neutropenia	3	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0011893	HP:0001880	Eosinophilia	3	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0011893	HP:0001875	Neutropenia	3	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	HP:0040284 - Very rare	3
HP:0011893	HP:0001875	Neutropenia	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0011893	HP:0001875	Neutropenia	3	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	.	29
HP:0011893	HP:0001875	Neutropenia	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0011893	HP:0001875	Neutropenia	3	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0011893	HP:0001880	Eosinophilia	3	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0011893	HP:0001875	Neutropenia	3	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040280 - Obligate	56
HP:0011893	HP:0001875	Neutropenia	3	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults	.	56
HP:0011893	HP:0010976	B lymphocytopenia	3	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant	.	56
HP:0011893	HP:0001875	Neutropenia	3	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant	.	56
HP:0011893	HP:0001875	Neutropenia	3	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55	.
HP:0011893	HP:0001875	Neutropenia	3	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.	39
HP:0011893	HP:0001875	Neutropenia	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0011893	HP:0001875	Neutropenia	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0011893	HP:0001875	Neutropenia	3	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0011893	HP:0001875	Neutropenia	3	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0011893	HP:0001880	Eosinophilia	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare	2
HP:0011893	HP:0100828	Increased T cell count	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	2
HP:0011893	HP:0001875	Neutropenia	3	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0011893	HP:0001875	Neutropenia	3	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.	39
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011893	HP:0001875	Neutropenia	3	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0011893	HP:0010976	B lymphocytopenia	3	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0011893	HP:0001875	Neutropenia	3	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	23
HP:0011893	HP:0001875	Neutropenia	3	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0011893	HP:0010976	B lymphocytopenia	3	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0011893	HP:0001875	Neutropenia	3	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	7
HP:0011893	HP:0010976	B lymphocytopenia	3	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0011893	HP:0001875	Neutropenia	3	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0011893	HP:0005403	T lymphocytopenia	3	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0001875	Neutropenia	3	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0011893	HP:0010976	B lymphocytopenia	3	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0011893	HP:0001880	Eosinophilia	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent	52
HP:0011893	HP:0001880	Eosinophilia	3	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0011893	HP:0010976	B lymphocytopenia	3	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0011893	HP:0010976	B lymphocytopenia	3	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0011893	HP:0011897	Neutrophilia	3	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0011893	HP:0005403	T lymphocytopenia	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011893	HP:0010976	B lymphocytopenia	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0011893	HP:0005403	T lymphocytopenia	3	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0011893	HP:0001880	Eosinophilia	3	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	48
HP:0011893	HP:0005403	T lymphocytopenia	3	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0011893	HP:0031545	Abnormally low T cell receptor excision circle level	3	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040282 - Frequent	48
HP:0011893	HP:0005403	T lymphocytopenia	3	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0011893	HP:0011897	Neutrophilia	3	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0011893	HP:0001875	Neutropenia	3	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0011893	HP:0001880	Eosinophilia	3	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0011893	HP:0005403	T lymphocytopenia	3	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0011893	HP:0001880	Eosinophilia	3	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0011893	HP:0005403	T lymphocytopenia	3	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:0011893	HP:0001880	Eosinophilia	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0011893	HP:0005403	T lymphocytopenia	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0011893	HP:0001875	Neutropenia	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0011893	HP:0032061	Hypereosinophilia	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011893	HP:0001880	Eosinophilia	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011893	HP:0001875	Neutropenia	3	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0011893	HP:0001875	Neutropenia	3	IRAK4 CL E G H	51135	17967	ORPHA:70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency	HP:0040281 - Very frequent	58
HP:0011893	HP:0001875	Neutropenia	3	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0011893	HP:0011897	Neutrophilia	3	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0011893	HP:0001880	Eosinophilia	3	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0011893	HP:0001875	Neutropenia	3	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0011893	HP:0005403	T lymphocytopenia	3	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0011893	HP:0005403	T lymphocytopenia	3	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0011893	HP:0010976	B lymphocytopenia	3	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0011893	HP:0001875	Neutropenia	3	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive	.	8
HP:0011893	HP:0001880	Eosinophilia	3	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0011893	HP:0005403	T lymphocytopenia	3	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0011893	HP:0010976	B lymphocytopenia	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040283 - Occasional	140
HP:0011893	HP:0005403	T lymphocytopenia	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040281 - Very frequent	140
HP:0011893	HP:0031807	Increased basophil count	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0011893	HP:0011897	Neutrophilia	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0011893	HP:0001880	Eosinophilia	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0011893	HP:0005403	T lymphocytopenia	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0011893	HP:0010976	B lymphocytopenia	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0011893	HP:0001875	Neutropenia	3	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0011893	HP:0001875	Neutropenia	3	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein	.	1
HP:0011893	HP:0001875	Neutropenia	3	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency	HP:0040281 - Very frequent	1
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0011893	HP:0001875	Neutropenia	3	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0011893	HP:0005403	T lymphocytopenia	3	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0011893	HP:0031545	Abnormally low T cell receptor excision circle level	3	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011893	HP:0005403	T lymphocytopenia	3	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0011893	HP:0005403	T lymphocytopenia	3	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0011893	HP:0001880	Eosinophilia	3	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	88
HP:0011893	HP:0001875	Neutropenia	3	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040283 - Occasional	46
HP:0011893	HP:0001875	Neutropenia	3	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011893	HP:0010976	B lymphocytopenia	3	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011893	HP:0001875	Neutropenia	3	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011893	HP:0001875	Neutropenia	3	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0011893	HP:0001875	Neutropenia	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0011893	HP:0001875	Neutropenia	3	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0011893	HP:0001875	Neutropenia	3	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V	.	1
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0011893	HP:0005403	T lymphocytopenia	3	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0011893	HP:0005403	T lymphocytopenia	3	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0011893	HP:0010976	B lymphocytopenia	3	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0011893	HP:0001875	Neutropenia	3	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0011893	HP:0001875	Neutropenia	3	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0011893	HP:0011897	Neutrophilia	3	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0011893	HP:0011897	Neutrophilia	3	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040282 - Frequent	281
HP:0011893	HP:0001875	Neutropenia	3	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0011893	HP:0001875	Neutropenia	3	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0011893	HP:0001875	Neutropenia	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0011893	HP:0001875	Neutropenia	3	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0011893	HP:0001875	Neutropenia	3	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0011893	HP:0001875	Neutropenia	3	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040283 - Occasional
HP:0011893	HP:0001875	Neutropenia	3	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040283 - Occasional
HP:0011893	HP:0001875	Neutropenia	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0011893	HP:0001875	Neutropenia	3	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50	.	2
HP:0011893	HP:0001875	Neutropenia	3	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional	88
HP:0011893	HP:0011897	Neutrophilia	3	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0011893	HP:0005403	T lymphocytopenia	3	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0011893	HP:0010976	B lymphocytopenia	3	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0011893	HP:0001875	Neutropenia	3	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0011893	HP:0010976	B lymphocytopenia	3	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0011893	HP:0001875	Neutropenia	3	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0011893	HP:0005403	T lymphocytopenia	3	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0011893	HP:0010976	B lymphocytopenia	3	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0011893	HP:0005404	Increased B cell count	3	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0011893	HP:0001875	Neutropenia	3	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0011893	HP:0010976	B lymphocytopenia	3	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0011893	HP:0005403	T lymphocytopenia	3	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0011893	HP:0010976	B lymphocytopenia	3	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0011893	HP:0032061	Hypereosinophilia	3	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0011893	HP:0001880	Eosinophilia	3	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0011893	HP:0001880	Eosinophilia	3	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0011893	HP:0001875	Neutropenia	3	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0011893	HP:0031891	Decreased eosinophil count	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0011893	HP:0001875	Neutropenia	3	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0011893	HP:0005403	T lymphocytopenia	3	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0011893	HP:0001875	Neutropenia	3	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0011893	HP:0011897	Neutrophilia	3	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0011893	HP:0001875	Neutropenia	3	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	HP:0040284 - Very rare
HP:0011893	HP:0001875	Neutropenia	3	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0011893	HP:0001875	Neutropenia	3	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92
HP:0011893	HP:0001880	Eosinophilia	3	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0011893	HP:0001880	Eosinophilia	3	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia	.	28
HP:0011893	HP:0001875	Neutropenia	3	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0011893	HP:0001880	Eosinophilia	3	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0011893	HP:0001880	Eosinophilia	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0011893	HP:0001875	Neutropenia	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0011893	HP:0005403	T lymphocytopenia	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0011893	HP:0010976	B lymphocytopenia	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0011893	HP:0005403	T lymphocytopenia	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0011893	HP:0005403	T lymphocytopenia	3	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0011893	HP:0010976	B lymphocytopenia	3	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0011893	HP:0011897	Neutrophilia	3	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0011893	HP:0005403	T lymphocytopenia	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0001875	Neutropenia	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0001880	Eosinophilia	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0001875	Neutropenia	3	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive	.	43
HP:0011893	HP:0001875	Neutropenia	3	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	43
HP:0011893	HP:0010976	B lymphocytopenia	3	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0011893	HP:0001875	Neutropenia	3	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	3
HP:0011893	HP:0001875	Neutropenia	3	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0011893	HP:0010976	B lymphocytopenia	3	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0011893	HP:0001875	Neutropenia	3	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0011893	HP:0001875	Neutropenia	3	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0011893	HP:0001875	Neutropenia	3	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0011893	HP:0001875	Neutropenia	3	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	58
HP:0011893	HP:0010976	B lymphocytopenia	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0011893	HP:0001875	Neutropenia	3	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	134
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0011893	HP:0005403	T lymphocytopenia	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0011893	HP:0005404	Increased B cell count	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0011893	HP:0001875	Neutropenia	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0011893	HP:0001880	Eosinophilia	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0011893	HP:0005404	Increased B cell count	3	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0011893	HP:0005404	Increased B cell count	3	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0011893	HP:0005403	T lymphocytopenia	3	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0011893	HP:0001875	Neutropenia	3	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040282 - Frequent	67
HP:0011893	HP:0010976	B lymphocytopenia	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0011893	HP:0001875	Neutropenia	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0011893	HP:0031545	Abnormally low T cell receptor excision circle level	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0011893	HP:0005403	T lymphocytopenia	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0011893	HP:0010976	B lymphocytopenia	3	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0011893	HP:0031545	Abnormally low T cell receptor excision circle level	3	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0011893	HP:0031545	Abnormally low T cell receptor excision circle level	3	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0011893	HP:0011897	Neutrophilia	3	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0011893	HP:0010976	B lymphocytopenia	3	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	127
HP:0011893	HP:0005403	T lymphocytopenia	3	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	127
HP:0011893	HP:0010976	B lymphocytopenia	3	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040281 - Very frequent	127
HP:0011893	HP:0001875	Neutropenia	3	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0011893	HP:0005403	T lymphocytopenia	3	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040281 - Very frequent	127
HP:0011893	HP:0001880	Eosinophilia	3	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0011893	HP:0001880	Eosinophilia	3	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	127
HP:0011893	HP:0010976	B lymphocytopenia	3	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0011893	HP:0001880	Eosinophilia	3	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	127
HP:0011893	HP:0010976	B lymphocytopenia	3	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:0011893	HP:0005403	T lymphocytopenia	3	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:0011893	HP:0010976	B lymphocytopenia	3	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	50
HP:0011893	HP:0005403	T lymphocytopenia	3	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	50
HP:0011893	HP:0001880	Eosinophilia	3	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	50
HP:0011893	HP:0010976	B lymphocytopenia	3	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0011893	HP:0001880	Eosinophilia	3	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0011893	HP:0001880	Eosinophilia	3	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	50
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0011893	HP:0005403	T lymphocytopenia	3	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:0011893	HP:0010976	B lymphocytopenia	3	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:0011893	HP:0001875	Neutropenia	3	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	2
HP:0011893	HP:0005403	T lymphocytopenia	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011893	HP:0001880	Eosinophilia	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0011893	HP:0001875	Neutropenia	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011893	HP:0005404	Increased B cell count	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0011893	HP:0001880	Eosinophilia	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0011893	HP:0001875	Neutropenia	3	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0011893	HP:0010976	B lymphocytopenia	3	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0011893	HP:0001875	Neutropenia	3	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0011893	HP:0001875	Neutropenia	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0011893	HP:0005403	T lymphocytopenia	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0011893	HP:0001875	Neutropenia	3	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0011893	HP:0001875	Neutropenia	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0011893	HP:0005403	T lymphocytopenia	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0011893	HP:0001875	Neutropenia	3	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0011893	HP:0005403	T lymphocytopenia	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0011893	HP:0001875	Neutropenia	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0011893	HP:0010976	B lymphocytopenia	3	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0011893	HP:0005403	T lymphocytopenia	3	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0011893	HP:0001875	Neutropenia	3	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0011893	HP:0001875	Neutropenia	3	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent	37
HP:0011893	HP:0001880	Eosinophilia	3	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	37
HP:0011893	HP:0001875	Neutropenia	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0011893	HP:0001880	Eosinophilia	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0011893	HP:0001880	Eosinophilia	3	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0011893	HP:0031545	Abnormally low T cell receptor excision circle level	3	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0011893	HP:0001875	Neutropenia	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0011893	HP:0001875	Neutropenia	3	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0011893	HP:0001875	Neutropenia	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0011893	HP:0001875	Neutropenia	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011893	HP:0001875	Neutropenia	3	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0011893	HP:0001875	Neutropenia	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0011893	HP:0001875	Neutropenia	3	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0011893	HP:0001875	Neutropenia	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0011893	HP:0001875	Neutropenia	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011893	HP:0001875	Neutropenia	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011893	HP:0001875	Neutropenia	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0011893	HP:0001875	Neutropenia	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0011893	HP:0001875	Neutropenia	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0011893	HP:0001875	Neutropenia	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011893	HP:0001875	Neutropenia	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0011893	HP:0001875	Neutropenia	3	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4	.	5
HP:0011893	HP:0001875	Neutropenia	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0011893	HP:0001875	Neutropenia	3	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0011893	HP:0001875	Neutropenia	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0011893	HP:0001875	Neutropenia	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0011893	HP:0001875	Neutropenia	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0011893	HP:0001875	Neutropenia	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0011893	HP:0001875	Neutropenia	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0011893	HP:0001875	Neutropenia	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0011893	HP:0001875	Neutropenia	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0011893	HP:0001875	Neutropenia	3	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8	.	20
HP:0011893	HP:0001875	Neutropenia	3	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	181
HP:0011893	HP:0001875	Neutropenia	3	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0011893	HP:0001875	Neutropenia	3	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0011893	HP:0010976	B lymphocytopenia	3	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0001875	Neutropenia	3	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0005403	T lymphocytopenia	3	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0001875	Neutropenia	3	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	26
HP:0011893	HP:0001875	Neutropenia	3	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	26
HP:0011893	HP:0001875	Neutropenia	3	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0011893	HP:0001875	Neutropenia	3	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.	2
HP:0011893	HP:0001875	Neutropenia	3	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0011893	HP:0001875	Neutropenia	3	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0011893	HP:0001880	Eosinophilia	3	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome	HP:0040281 - Very frequent	26
HP:0011893	HP:0001875	Neutropenia	3	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0011893	HP:0001875	Neutropenia	3	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG	HP:0040281 - Very frequent	24
HP:0011893	HP:0011897	Neutrophilia	3	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc	.	71
HP:0011893	HP:0011897	Neutrophilia	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040281 - Very frequent	71
HP:0011893	HP:0001875	Neutropenia	3	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0011893	HP:0001875	Neutropenia	3	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0011893	HP:0001875	Neutropenia	3	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0011893	HP:0010976	B lymphocytopenia	3	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0011893	HP:0001875	Neutropenia	3	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.	101
HP:0011893	HP:0001880	Eosinophilia	3	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040283 - Occasional	101
HP:0011893	HP:0001875	Neutropenia	3	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0011893	HP:0001875	Neutropenia	3	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0011893	HP:0001875	Neutropenia	3	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0011893	HP:0005403	T lymphocytopenia	3	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent	49
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0011893	HP:0010976	B lymphocytopenia	3	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0011893	HP:0001875	Neutropenia	3	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0011893	HP:0001880	Eosinophilia	3	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0011893	HP:0032061	Hypereosinophilia	3	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0011893	HP:0001880	Eosinophilia	3	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0011893	HP:0001880	Eosinophilia	3	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0011893	HP:0001875	Neutropenia	3	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040280 - Obligate
HP:0011893	HP:0001875	Neutropenia	3	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0011893	HP:0001875	Neutropenia	3	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent
HP:0011893	HP:0001875	Neutropenia	3	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0011893	HP:0001875	Neutropenia	3	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	1
HP:0011893	HP:0001880	Eosinophilia	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0011893	HP:0011897	Neutrophilia	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0011893	HP:0031807	Increased basophil count	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0011893	HP:0010976	B lymphocytopenia	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0011893	HP:0001875	Neutropenia	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0011893	HP:0001875	Neutropenia	3	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	110
HP:0011893	HP:0001875	Neutropenia	3	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0011893	HP:0001880	Eosinophilia	3	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent	110
HP:0011893	HP:0001880	Eosinophilia	3	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0011893	HP:0001875	Neutropenia	3	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0011893	HP:0001875	Neutropenia	3	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS	.	4
HP:0011893	HP:0001875	Neutropenia	3	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0011893	HP:0001875	Neutropenia	3	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0011893	HP:0001875	Neutropenia	3	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0011893	HP:0005403	T lymphocytopenia	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0011893	HP:0010976	B lymphocytopenia	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0011893	HP:0001875	Neutropenia	3	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	HP:0040283 - Occasional
HP:0011893	HP:0001875	Neutropenia	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011893	HP:0011897	Neutrophilia	3	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	20
HP:0011893	HP:0001875	Neutropenia	3	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	22
HP:0011893	HP:0001880	Eosinophilia	3	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0011893	HP:0010976	B lymphocytopenia	3	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011893	HP:0010976	B lymphocytopenia	3	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011893	HP:0001875	Neutropenia	3	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	2
HP:0011893	HP:0001880	Eosinophilia	3	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0011893	HP:0001875	Neutropenia	3	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040280 - Obligate	82
HP:0011893	HP:0001875	Neutropenia	3	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040282 - Frequent	57
HP:0011893	HP:0001875	Neutropenia	3	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.	57
HP:0011893	HP:0001875	Neutropenia	3	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23	.	3
HP:0011893	HP:0001875	Neutropenia	3	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	48
HP:0011893	HP:0001875	Neutropenia	3	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0011893	HP:0001875	Neutropenia	3	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	238
HP:0011893	HP:0001875	Neutropenia	3	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0011893	HP:0001875	Neutropenia	3	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	3
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0011893	HP:0001875	Neutropenia	3	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia	HP:0040284 - Very rare	3
HP:0011893	HP:0001880	Eosinophilia	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0011893	HP:0011897	Neutrophilia	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0011893	HP:0031807	Increased basophil count	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0011893	HP:0001875	Neutropenia	3	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.	67
HP:0011893	HP:0001875	Neutropenia	3	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0011893	HP:0011897	Neutrophilia	3	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	6
HP:0011893	HP:0011897	Neutrophilia	3	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	3
HP:0011893	HP:0010976	B lymphocytopenia	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0011893	HP:0001875	Neutropenia	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0011893	HP:0012234	Agranulocytosis	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0011893	HP:0001875	Neutropenia	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0011893	HP:0010976	B lymphocytopenia	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0011893	HP:0005403	T lymphocytopenia	3	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011893	HP:0025539	Abnormal B cell subset distribution	3	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011893	HP:0001875	Neutropenia	3	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0011893	HP:0001875	Neutropenia	3	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	HP:0040284 - Very rare
HP:0011893	HP:0031891	Decreased eosinophil count	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0011893	HP:0001875	Neutropenia	3	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0011893	HP:0032061	Hypereosinophilia	3	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY	.	1
HP:0011893	HP:0001880	Eosinophilia	3	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0011893	HP:0011897	Neutrophilia	3	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	2
HP:0011893	HP:0010976	B lymphocytopenia	3	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0011893	HP:0001875	Neutropenia	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0011893	HP:0001875	Neutropenia	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0011893	HP:0010976	B lymphocytopenia	3	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0011893	HP:0005403	T lymphocytopenia	3	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0011893	HP:0001875	Neutropenia	3	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0011893	HP:0011897	Neutrophilia	3	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	5
HP:0011893	HP:0001875	Neutropenia	3	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0011893	HP:0031891	Decreased eosinophil count	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0011893	HP:0031891	Decreased eosinophil count	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0011893	HP:0001875	Neutropenia	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546
HP:0011893	HP:0001875	Neutropenia	3	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0011893	HP:0001875	Neutropenia	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0011893	HP:0001875	Neutropenia	3	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive	.	7
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0011893	HP:0001875	Neutropenia	3	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked	.	65
HP:0011893	HP:0001875	Neutropenia	3	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0011893	HP:0005403	T lymphocytopenia	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0001880	Eosinophilia	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0001875	Neutropenia	3	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia	HP:0040281 - Very frequent	65
HP:0011893	HP:0001875	Neutropenia	3	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome	.
HP:0011893	HP:0010976	B lymphocytopenia	3	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0011893	HP:0001875	Neutropenia	3	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0011893	HP:0005403	T lymphocytopenia	3	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0011893	HP:0001875	Neutropenia	3	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0011893	HP:0005403	T lymphocytopenia	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0011893	HP:0001880	Eosinophilia	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0011893	HP:0025540	Abnormal T cell subset distribution	3	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0011893	HP:0005403	T lymphocytopenia	3	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0011893	HP:0001875	Neutropenia	3	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	1
HP:0011893	HP:0001880	Eosinophilia	3	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	HP:0040284 - Very rare	1
HP:0011893	HP:0011897	Neutrophilia	3	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0011893	HP:0041080	Abnormal proportion of exhausted T cells	4	CL E G H
HP:0011893	HP:0500272	Abnormal proportion of immature gamma-delta T cells	4	CL E G H
HP:0011893	HP:0032577	Clonal T cell receptor rearrangement	4	CL E G H
HP:0011893	HP:0030370	Abnormal proportion of naive B cells	4	CL E G H
HP:0011893	HP:0032151	Episodic eosinophilia	4	CL E G H
HP:0011893	HP:0030251	Absence of memory B cells	4	CL E G H
HP:0011893	HP:0012235	Drug-induced agranulocytosis	4	CL E G H
HP:0011893	HP:0410258	Neutrophilia in absence of infection	4	CL E G H
HP:0011893	HP:0030376	Abnormal proportion of immature B cells	4	CL E G H
HP:0011893	HP:0032239	Increased circulating band cell count	4	CL E G H
HP:0011893	HP:0410257	Neutrophilia in presence of infection	4	CL E G H
HP:0011893	HP:0032238	Increased circulating metamyelocyte count	4	CL E G H
HP:0011893	HP:0032127	Abnormal plasmablast proportion	4	CL E G H
HP:0011893	HP:0032237	Increased circulating myelocyte count	4	CL E G H
HP:0011893	HP:0005365	Severe B lymphocytopenia	4	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:0011893	HP:0005541	Congenital agranulocytosis	4	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0011893	HP:0030379	Abnormal proportion of transitional B cells	4	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0011893	HP:0032182	Abnormal proportion of memory T cells	4	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0011893	HP:0030252	Absent circulating B cells	4	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0011893	HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	4	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0011893	HP:0032061	Hypereosinophilia	4	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0011893	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0011893	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0011893	HP:0002853	Increased proportion of HLA DR+ T cells	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0011893	HP:0045080	Decreased proportion of CD3-positive T cells	4	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	8
HP:0011893	HP:0045080	Decreased proportion of CD3-positive T cells	4	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	18
HP:0011893	HP:0045080	Decreased proportion of CD3-positive T cells	4	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0011893	HP:0045080	Decreased proportion of CD3-positive T cells	4	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	24
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	4	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	.	19
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	4	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0011893	HP:0410252	Chronic neutropenia	4	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0011893	HP:0410255	Transient neutropenia	4	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0011893	HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	4	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0011893	HP:4000039	Reduced proportion of mucosal-associated invariant T cells	4	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0011893	HP:0410252	Chronic neutropenia	4	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0011893	HP:0005365	Severe B lymphocytopenia	4	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0011893	HP:0045080	Decreased proportion of CD3-positive T cells	4	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040283 - Occasional	94
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011893	HP:0410255	Transient neutropenia	4	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0011893	HP:0410252	Chronic neutropenia	4	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0011893	HP:0410252	Chronic neutropenia	4	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0011893	HP:0410255	Transient neutropenia	4	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0011893	HP:0040289	Cyclic neutropenia	4	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040281 - Very frequent	79
HP:0011893	HP:0040289	Cyclic neutropenia	4	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia	.	79
HP:0011893	HP:0005541	Congenital agranulocytosis	4	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0011893	HP:0032061	Hypereosinophilia	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0011893	HP:0002853	Increased proportion of HLA DR+ T cells	4	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0011893	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0011893	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0011893	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0011893	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0011893	HP:0002853	Increased proportion of HLA DR+ T cells	4	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia	HP:0040281 - Very frequent	5
HP:0011893	HP:0410255	Transient neutropenia	4	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0011893	HP:0410252	Chronic neutropenia	4	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0011893	HP:0030252	Absent circulating B cells	4	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0011893	HP:0500263	Abnormal helper T cell proportion	4	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0011893	HP:0008165	Decreased helper T cell proportion	4	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.	54
HP:0011893	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent	1
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	HP:0040283 - Occasional	32
HP:0011893	HP:0030252	Absent circulating B cells	4	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	4	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011893	HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	4	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	4	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0011893	HP:0031396	Abnormal proportion of naive T cells	4	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	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:0011893	HP:0045080	Decreased proportion of CD3-positive T cells	4	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040282 - Frequent	48
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0011893	HP:0045080	Decreased proportion of CD3-positive T cells	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0011893	HP:0032061	Hypereosinophilia	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011893	HP:0410255	Transient neutropenia	4	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional	3
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0011893	HP:0500269	Abnormal proportion of gamma-delta T cells	4	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22	.	1
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0011893	HP:0500269	Abnormal proportion of gamma-delta T cells	4	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0011893	HP:0410252	Chronic neutropenia	4	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional	11
HP:0011893	HP:0032182	Abnormal proportion of memory T cells	4	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0011893	HP:0005365	Severe B lymphocytopenia	4	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0011893	HP:0032061	Hypereosinophilia	4	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	4	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0011893	HP:0045080	Decreased proportion of CD3-positive T cells	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040281 - Very frequent	15
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0011893	HP:0030379	Abnormal proportion of transitional B cells	4	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0032182	Abnormal proportion of memory T cells	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0030379	Abnormal proportion of transitional B cells	4	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0011893	HP:0031396	Abnormal proportion of naive T cells	4	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0011893	HP:0045080	Decreased proportion of CD3-positive T cells	4	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040283 - Occasional	52
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0011893	HP:0410252	Chronic neutropenia	4	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0011893	HP:0005365	Severe B lymphocytopenia	4	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0011893	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0011893	HP:0033207	Increased proportion autoreactive unresponsive CD21-/low B cells	4	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040282 - Frequent	127
HP:0011893	HP:0005365	Severe B lymphocytopenia	4	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0011893	HP:0045080	Decreased proportion of CD3-positive T cells	4	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0011893	HP:0005365	Severe B lymphocytopenia	4	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0011893	HP:0045080	Decreased proportion of CD3-positive T cells	4	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0011893	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0011893	HP:0033207	Increased proportion autoreactive unresponsive CD21-/low B cells	4	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0031396	Abnormal proportion of naive T cells	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0032182	Abnormal proportion of memory T cells	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0410252	Chronic neutropenia	4	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0011893	HP:0410255	Transient neutropenia	4	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0011893	HP:0410252	Chronic neutropenia	4	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040282 - Frequent	110
HP:0011893	HP:0040289	Cyclic neutropenia	4	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0011893	HP:0030252	Absent circulating B cells	4	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0011893	HP:0031396	Abnormal proportion of naive T cells	4	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0011893	HP:0410255	Transient neutropenia	4	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0011893	HP:0030252	Absent circulating B cells	4	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0011893	HP:0032061	Hypereosinophilia	4	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0011893	HP:0410255	Transient neutropenia	4	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0011893	HP:0410252	Chronic neutropenia	4	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional	89
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0011893	HP:0031396	Abnormal proportion of naive T cells	4	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0011893	HP:0040289	Cyclic neutropenia	4	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0011893	HP:0032182	Abnormal proportion of memory T cells	4	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011893	HP:0030373	Abnormal proportion of memory B cells	4	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011893	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	4	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0011893	HP:0032061	Hypereosinophilia	4	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY	.	1
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0031392	Abnormal proportion of CD4-positive T cells	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	4	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0011893	HP:0031394	Abnormal CD4:CD8 ratio	4	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	4	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0011893	HP:0031393	Abnormal proportion of CD8-positive T cells	4	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	4	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0011893	HP:0030371	Increased proportion of naive B cells	5	CL E G H
HP:0011893	HP:0030380	Decreased proportion of transitional B cells	5	CL E G H
HP:0011893	HP:0500271	Decreased proportion of gamma-delta T cells	5	CL E G H
HP:0011893	HP:0030378	Decreased proportion of immature B cells	5	CL E G H
HP:0011893	HP:0020112	Increased proportion of CD4+CD25+ regulatory T cells	5	CL E G H
HP:0011893	HP:0500264	Increased helper T cell proportion	5	CL E G H
HP:0011893	HP:0032124	Abnormal proportion of unswitched memory B cells	5	CL E G H
HP:0011893	HP:0410374	Abnormal proportion of naive CD8 T cells	5	CL E G H
HP:0011893	HP:0030377	Increased proportion of immature B cells	5	CL E G H
HP:0011893	HP:0031514	Increased proportion of exhausted T cells	5	CL E G H
HP:0011893	HP:0032129	Decreased proportion of plasmablasts	5	CL E G H
HP:0011893	HP:0500274	Decreased proportion of immature gamma-delta T cells	5	CL E G H
HP:0011893	HP:0031398	Increased proportion of naive T cells	5	CL E G H
HP:0011893	HP:0032128	Increased proportion of plasmablasts	5	CL E G H
HP:0011893	HP:0030375	Increased proportion of memory B cells	5	CL E G H
HP:0011893	HP:0410254	Cyclic neutropenia in myeloid maturation arrest in bone marrow	5	CL E G H
HP:0011893	HP:0025623	Abnormal proportion of CD4+ effector memory cells	5	CL E G H
HP:0011893	HP:0500273	Increased proportion of immature gamma-delta T cells	5	CL E G H
HP:0011893	HP:0410379	Abnormal proportion of CD4-positive, alpha-beta memory T cells	5	CL E G H
HP:0011893	HP:0030372	Decreased proportion of naive B cells	5	CL E G H
HP:0011893	HP:0033222	Decreased CD4:CD8 ratio	5	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0011893	HP:0030381	Increased proportion of transitional B cells	5	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0011893	HP:0032183	Decreased proportion of memory T cells	5	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0011893	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	5	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0011893	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0011893	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011893	HP:0033222	Decreased CD4:CD8 ratio	5	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0011893	HP:0030386	Abnormal proportion of class-switched memory B cells	5	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	5	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	.	19
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0011893	HP:0005422	Absence of CD8-positive T cells	5	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial	.	4
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	5	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0011893	HP:0410256	Infection associated neutropenia	5	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent	38
HP:0011893	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	5	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0011893	HP:0030386	Abnormal proportion of class-switched memory B cells	5	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0011893	HP:0033222	Decreased CD4:CD8 ratio	5	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011893	HP:0033222	Decreased CD4:CD8 ratio	5	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	5	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0011893	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0011893	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0011893	HP:0030386	Abnormal proportion of class-switched memory B cells	5	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0011893	HP:0008165	Decreased helper T cell proportion	5	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.	54
HP:0011893	HP:0031401	Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040282 - Frequent	32
HP:0011893	HP:0033222	Decreased CD4:CD8 ratio	5	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011893	HP:0030386	Abnormal proportion of class-switched memory B cells	5	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011893	HP:0030386	Abnormal proportion of class-switched memory B cells	5	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	5	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0030386	Abnormal proportion of class-switched memory B cells	5	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0011893	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	5	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011893	HP:0033222	Decreased CD4:CD8 ratio	5	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011893	HP:0033222	Decreased CD4:CD8 ratio	5	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	5	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0011893	HP:0031397	Decreased proportion of naive T cells	5	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:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0011893	HP:0030386	Abnormal proportion of class-switched memory B cells	5	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	5	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0011893	HP:0030386	Abnormal proportion of class-switched memory B cells	5	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0011893	HP:0500270	Increased proportion of gamma-delta T cells	5	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0011893	HP:0030386	Abnormal proportion of class-switched memory B cells	5	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0011893	HP:0500270	Increased proportion of gamma-delta T cells	5	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0011893	HP:0030386	Abnormal proportion of class-switched memory B cells	5	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011893	HP:0033222	Decreased CD4:CD8 ratio	5	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0011893	HP:0032184	Increased proportion of memory T cells	5	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	5	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0011893	HP:0032219	Increased proportion of CD4-positive T cells	5	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0011893	HP:0030386	Abnormal proportion of class-switched memory B cells	5	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0011893	HP:0030381	Increased proportion of transitional B cells	5	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0410380	Abnormal proportion of CD8-positive, alpha-beta memory T cells	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0032183	Decreased proportion of memory T cells	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0410373	Abnormal proportion of naive CD4 T cells	5	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0011893	HP:0031397	Decreased proportion of naive T cells	5	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0011893	HP:0030381	Increased proportion of transitional B cells	5	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0011893	HP:0030386	Abnormal proportion of class-switched memory B cells	5	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0011893	HP:0033221	Increased CD4:CD8 ratio	5	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0011893	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0011893	HP:0030386	Abnormal proportion of class-switched memory B cells	5	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011893	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0011893	HP:0030386	Abnormal proportion of class-switched memory B cells	5	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0410373	Abnormal proportion of naive CD4 T cells	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0032184	Increased proportion of memory T cells	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0031397	Decreased proportion of naive T cells	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0410380	Abnormal proportion of CD8-positive, alpha-beta memory T cells	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0410373	Abnormal proportion of naive CD4 T cells	5	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0011893	HP:0031397	Decreased proportion of naive T cells	5	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0011893	HP:0030386	Abnormal proportion of class-switched memory B cells	5	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0011893	HP:0030383	Abnormal proportion of marginal zone B cells	5	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent	49
HP:0011893	HP:0031397	Decreased proportion of naive T cells	5	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0011893	HP:0032183	Decreased proportion of memory T cells	5	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011893	HP:0032184	Increased proportion of memory T cells	5	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011893	HP:0410380	Abnormal proportion of CD8-positive, alpha-beta memory T cells	5	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011893	HP:0030386	Abnormal proportion of class-switched memory B cells	5	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011893	HP:0030374	Decreased proportion of memory B cells	5	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0011893	HP:0033222	Decreased CD4:CD8 ratio	5	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0011893	HP:0033222	Decreased CD4:CD8 ratio	5	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0011893	HP:0032218	Decreased proportion of CD4-positive T cells	5	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	5	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	5	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0011893	HP:0033221	Increased CD4:CD8 ratio	5	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0011893	HP:0005422	Absence of CD8-positive T cells	5	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	5	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0011893	HP:0005415	Decreased proportion of CD8-positive T cells	5	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0011893	HP:0005422	Absence of CD8-positive T cells	5	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0011893	HP:0025620	Abnormal proportion of CD4+ central memory cells	6	CL E G H
HP:0011893	HP:0032126	Decreased proportion of unswitched memory B cells	6	CL E G H
HP:0011893	HP:0410376	Increased proportion of naive CD8 T cells	6	CL E G H
HP:0011893	HP:0032125	Increased proportion of unswitched memory B cells	6	CL E G H
HP:0011893	HP:0410375	Increased proportion of naive CD4 T cells	6	CL E G H
HP:0011893	HP:0500274	Decreased proportion of immature gamma-delta T cells	6	CL E G H
HP:0011893	HP:0410384	Abnormal proportion of central memory CD8-positive, alpha-beta T cells	6	CL E G H
HP:0011893	HP:0025625	Elevated proportion of CD4+ effector memory T cells	6	CL E G H
HP:0011893	HP:0410383	Abnormal proportion of effector memory CD8-positive, alpha-beta T cells	6	CL E G H
HP:0011893	HP:0025624	Reduced proportion of CD4+ effector memory T cells	6	CL E G H
HP:0011893	HP:0500273	Increased proportion of immature gamma-delta T cells	6	CL E G H
HP:0011893	HP:0410381	Abnormal proportion of central memory CD4-positive, alpha-beta T cells	6	CL E G H
HP:0011893	HP:0030387	Increased proportion of class-switched memory B cells	6	CL E G H
HP:0011893	HP:0410391	Increased proportion of CD4-positive, alpha-beta memory T cells	6	CL E G H
HP:0011893	HP:0030385	Increased proportion of marginal zone B cells	6	CL E G H
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0011893	HP:0410386	Decreased proportion of CD4-positive, alpha-beta memory T cells	6	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0011893	HP:0030388	Decreased proportion of class-switched memory B cells	6	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0011893	HP:0005422	Absence of CD8-positive T cells	6	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial	.	4
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0011893	HP:0030388	Decreased proportion of class-switched memory B cells	6	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0011893	HP:0030388	Decreased proportion of class-switched memory B cells	6	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0011893	HP:0030388	Decreased proportion of class-switched memory B cells	6	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0011893	HP:0030388	Decreased proportion of class-switched memory B cells	6	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011893	HP:0030388	Decreased proportion of class-switched memory B cells	6	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	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:0011893	HP:0030388	Decreased proportion of class-switched memory B cells	6	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0011893	HP:0030388	Decreased proportion of class-switched memory B cells	6	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22	.	1
HP:0011893	HP:0030388	Decreased proportion of class-switched memory B cells	6	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0011893	HP:0030388	Decreased proportion of class-switched memory B cells	6	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional	11
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040281 - Very frequent	15
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0011893	HP:0030388	Decreased proportion of class-switched memory B cells	6	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0011893	HP:0410385	Decreased proportion of CD8-positive, alpha-beta memory T cells	6	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0020177	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	6	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0410378	Decreased proportion of naive CD4 T cells	6	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0011893	HP:0410377	Decreased proportion of naive CD8 T cells	6	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0011893	HP:0030388	Decreased proportion of class-switched memory B cells	6	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0011893	HP:0030388	Decreased proportion of class-switched memory B cells	6	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0011893	HP:0030388	Decreased proportion of class-switched memory B cells	6	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0011893	HP:0410377	Decreased proportion of naive CD8 T cells	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0410378	Decreased proportion of naive CD4 T cells	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0020177	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0410392	Increased proportion of CD8-positive, alpha-beta memory T cells	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0410377	Decreased proportion of naive CD8 T cells	6	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0011893	HP:0030384	Decreased proportion of marginal zone B cells	6	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0011893	HP:0030388	Decreased proportion of class-switched memory B cells	6	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0011893	HP:0410385	Decreased proportion of CD8-positive, alpha-beta memory T cells	6	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011893	HP:0020177	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	6	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011893	HP:0410392	Increased proportion of CD8-positive, alpha-beta memory T cells	6	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011893	HP:0030388	Decreased proportion of class-switched memory B cells	6	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0011893	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011893	HP:0005422	Absence of CD8-positive T cells	6	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0011893	HP:0005422	Absence of CD8-positive T cells	6	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0011893	HP:0410390	Decreased proportion of effector memory CD8-positive, alpha-beta T cells	7	CL E G H
HP:0011893	HP:0410389	Decreased proportion of central memory CD8-positive, alpha-beta T cells	7	CL E G H
HP:0011893	HP:0410396	Increased proportion of central memory CD8-positive, alpha-beta T cells	7	CL E G H
HP:0011893	HP:0410394	Increased proportion of effector memory CD4-positive, alpha-beta T cells	7	CL E G H
HP:0011893	HP:0410393	Increased proportion of central memory CD4-positive, alpha-beta T cells	7	CL E G H
HP:0011893	HP:0410388	Decreased proportion of central memory CD4-positive, alpha-beta T cells	7	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0011893	HP:0500266	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells	7	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0011893	HP:0500265	Increased proportion of CD8-positive, alpha-beta TEMRA T cells	7	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011893	HP:0500266	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells	7	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011893	HP:0410395	Increased proportion of effector memory CD8-positive, alpha-beta T cells	7	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2

Genes (438) :ABCD4 ABL1 ACAT1 ACP5 ADA ADA2 ADAMTS3 ADH5 AGA AK2 ALG12 AMN ANAPC1 ANKRD26 AP3B1 AP3D1 ARHGAP31 ARHGEF1 ARPC1B ASXL1 ATM ATP11A ATP6AP1 ATP6AP2 ATRX B2M BACH2 BCL10 BCL11B BCOR BCR BLM BLNK BLOC1S6 BRAF BRCA1 BRCA2 BRIP1 BTK BTNL2 CA2 CALR CAMK2B CAPN3 CARD10 CARD11 CARD9 CARS1 CASK CASP10 CASP8 CASR CBL CCBE1 CD19 CD247 CD3D CD3E CD3G CD4 CD40 CD40LG CD79A CD79B CD81 CD8A CDC40 CDCA7 CDH23 CDSN CFTR CHD7 CIITA CLPB COG4 CORO1A CPA1 CR2 CSF3R CTLA4 CTNNBL1 CTPS1 CTRC CUBN CXCR2 CXCR4 CYBC1 DCLRE1C DDX41 DEF6 DKC1 DLL4 DNAJC21 DNASE1 DNMT3B DOCK2 DOCK6 DOCK8 EFL1 EIF2AK3 ELANE ELF4 EOGT EPG5 ERCC2 ERCC3 ERCC4 ERCC6L2 ETV6 EXTL3 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FAT4 FBXL4 FBXW7 FCGR2A FCGR2B FCGR3B FCHO1 FDX2 FERMT3 FIBP FIP1L1 FMO3 FNIP1 FOCAD FOXN1 FOXP3 FUT8 G6PC3 G6PD GATA1 GATA2 GBA1 GFI1 GINS1 GSS GTF2E2 GTF2H5 HAX1 HBB HELLS HLA-DPB1 HLA-DRB1 HMGCL HSCB HTRA2 HYOU1 ICOS IFIH1 IFNG IFNGR1 IGHM IGLL1 IKBKB IKBKG IKZF1 IKZF3 IL1RN IL21 IL2RA IL2RB IL2RG IL36RN IL37 IL6R IL6ST IL7 IL7R IPO8 IRAK1 IRAK4 IRF2BP2 IRF8 ISCU ITCH ITGB2 ITK IVD IVNS1ABP JAGN1 JAK1 JAK2 JAK3 KIT KNSTRN KRAS LACC1 LAMTOR2 LAT LBR LCK LCP2 LEP LEPR LIG1 LIG4 LIPA LMBRD1 LMNB2 LPIN2 LRBA LRRC8A LYST MAD2L2 MAGT1 MCM10 MDM4 MECOM MEFV MICU1 MMAA MMAB MMACHC MMUT MPL MPLKIP MS4A1 MSN MTHFD1 MTRR MVK MYC MYD88 MYSM1 NABP1 NBN NCKAP1L NDUFA6 NFKB1 NFKB2 NHEJ1 NHLRC2 NLRP1 NLRP12 NLRP3 NOTCH1 NPM1 NR3C1 NRAS NSMCE3 NUMA1 OAS1 OSTM1 OTUD5 OTULIN PACS2 PALB2 PCCA PCCB PDGFRA PDGFRB PGM3 PI4KA PIGA PIK3CD PIK3CG PIK3R1 PKHD1 PLCG2 PML PNP POMP PPIL1 PRDX1 PRF1 PRIM1 PRKAR1A PRKCD PRSS1 PRSS2 PSMB4 PSMB9 PTEN PTPN22 PTPRC RAB27A RAC2 RAD51 RAD51C RAG1 RAG2 RARA RASGRP1 RBCK1 RBM8A RBPJ RECQL4 REL RFWD3 RFX5 RFXANK RFXAP RIPK1 RMRP RNASEH2B RNF113A RNU4ATAC RPA1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS2 RTEL1 RUNX1 SALL4 SAMD9 SAMD9L SARS2 SASH3 SBDS SCARB2 SEC61A1 SF3B1 SGPL1 SH2D1A SKIC2 SKIC3 SLC27A4 SLC35A1 SLC35C1 SLC37A4 SLC39A7 SLC46A1 SLC7A7 SLX4 SMARCAL1 SMARCD2 SOCS1 SP110 SPI1 SPINK1 SPINK5 SPP1 SPRED2 SREBF1 SRP54 SRSF2 STAT1 STAT2 STAT3 STAT4 STAT5B STING1 STK4 STX11 STXBP2 SYK TAFAZZIN TARS1 TBK1 TBL1XR1 TBX21 TBXAS1 TCF3 TCIRG1 TCN2 TDP2 TERC TERT TET2 TFR2 TFRC TGFB1 TICAM1 TINF2 TLR3 TLR7 TLR8 TNFAIP3 TNFRSF13B TNFRSF13C TNFRSF1A TNFSF12 TOM1 TONSL TP53 TPP2 TRAC TRAF3 TREX1 TRNT1 TSR2 TTC7A TTI2 UBE2A UBE2T UNC119 UNC13D UNC93B1 UROS USB1 USP48 USP8 VPS13B VPS33A VPS45 WAS WDR1 WIPF1 XIAP XRCC2 XRCC4 ZAP70 ZBTB16 ZBTB24 ZNF341 ZNF699 ZNFX1 ZPR1

Diseases (433) :OMIM:614857 ORPHA:521 ORPHA:134 OMIM:607944 ORPHA:39041 ORPHA:277 OMIM:102700 ORPHA:124 OMIM:182410 OMIM:615688 ORPHA:2136 OMIM:619151 OMIM:208400 OMIM:267500 ORPHA:33355 ORPHA:79324 ORPHA:35858 ORPHA:221008 OMIM:188000 OMIM:608233 OMIM:617050 ORPHA:974 OMIM:618459 OMIM:617718 ORPHA:98850 ORPHA:98849 ORPHA:100 OMIM:208900 OMIM:619851 OMIM:300972 OMIM:301045 ORPHA:231401 ORPHA:96253 OMIM:241600 OMIM:618394 OMIM:616098 OMIM:617237 OMIM:618092 ORPHA:520 ORPHA:125 OMIM:613502 ORPHA:33110 OMIM:614171 ORPHA:84 OMIM:300755 OMIM:307200 ORPHA:47 ORPHA:797 ORPHA:2785 ORPHA:824 OMIM:617799 OMIM:253600 OMIM:619632 OMIM:616452 OMIM:615206 OMIM:617638 OMIM:212050 ORPHA:33364 OMIM:300908 ORPHA:3261 OMIM:603909 OMIM:607271 ORPHA:676 ORPHA:1572 OMIM:613493 OMIM:610163 ORPHA:169160 OMIM:615617 OMIM:615615 OMIM:615607 OMIM:619238 OMIM:606843 OMIM:308230 OMIM:613501 OMIM:612692 OMIM:608957 OMIM:619302 ORPHA:2268 OMIM:270300 OMIM:214800 OMIM:209920 ORPHA:572 ORPHA:445038 OMIM:616271 OMIM:619835 ORPHA:486 OMIM:618150 OMIM:615401 OMIM:617014 OMIM:162830 OMIM:616100 OMIM:152700 OMIM:619846 OMIM:615897 OMIM:619407 OMIM:193670 ORPHA:51636 OMIM:618935 OMIM:603554 ORPHA:275 OMIM:602450 OMIM:616871 OMIM:619573 OMIM:305000 ORPHA:811 OMIM:260400 OMIM:242860 OMIM:616433 ORPHA:217390 OMIM:243700 OMIM:617941 ORPHA:1667 OMIM:162800 ORPHA:2686 OMIM:202700 OMIM:301074 OMIM:242840 OMIM:615715 OMIM:616216 OMIM:617425 ORPHA:508533 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:614082 OMIM:609053 OMIM:601859 OMIM:615471 OMIM:620012 ORPHA:464370 OMIM:619164 OMIM:251900 OMIM:612840 ORPHA:500095 OMIM:602079 OMIM:619705 OMIM:619991 ORPHA:169095 OMIM:601705 OMIM:618806 ORPHA:37042 OMIM:304790 OMIM:618005 OMIM:612541 OMIM:300835 ORPHA:79277 ORPHA:3226 OMIM:614172 OMIM:614038 ORPHA:98827 ORPHA:77259 OMIM:607847 OMIM:613107 OMIM:617827 OMIM:266130 OMIM:616395 OMIM:610738 ORPHA:231222 OMIM:603903 ORPHA:232 ORPHA:133 ORPHA:20 OMIM:619523 OMIM:617248 OMIM:233600 OMIM:607594 OMIM:619773 ORPHA:88 OMIM:618963 OMIM:209950 OMIM:601495 OMIM:613500 OMIM:618204 OMIM:301081 OMIM:308300 ORPHA:464 OMIM:616873 OMIM:619437 OMIM:612852 OMIM:615767 OMIM:606367 OMIM:618495 OMIM:312863 OMIM:300400 ORPHA:276 OMIM:614204 OMIM:619398 OMIM:618944 OMIM:619752 OMIM:618523 OMIM:618309 OMIM:608971 ORPHA:169154 OMIM:619472 ORPHA:93552 OMIM:607676 ORPHA:70592 OMIM:617765 OMIM:226990 OMIM:255125 ORPHA:228426 OMIM:116920 OMIM:613011 OMIM:243500 OMIM:618969 OMIM:616022 OMIM:618999 OMIM:263300 OMIM:600802 ORPHA:35078 ORPHA:221139 OMIM:614470 OMIM:618795 OMIM:610798 ORPHA:90023 OMIM:617514 OMIM:169400 OMIM:615758 OMIM:619374 ORPHA:66628 ORPHA:179494 OMIM:619774 ORPHA:99812 OMIM:278000 ORPHA:79284 OMIM:277380 ORPHA:79087 ORPHA:77297 OMIM:614700 ORPHA:167 OMIM:214500 OMIM:617243 OMIM:300853 OMIM:619313 OMIM:618849 OMIM:616738 OMIM:249100 ORPHA:3243 OMIM:615673 OMIM:251100 OMIM:251110 ORPHA:79282 OMIM:277400 OMIM:251000 ORPHA:79312 ORPHA:289916 OMIM:300988 OMIM:617780 ORPHA:2169 OMIM:260920 OMIM:610377 ORPHA:543 OMIM:612260 OMIM:618116 ORPHA:508542 OMIM:251260 OMIM:618982 OMIM:618253 ORPHA:293978 ORPHA:169079 OMIM:618278 OMIM:617388 OMIM:611762 ORPHA:1451 OMIM:607115 OMIM:120100 OMIM:191900 OMIM:617241 OMIM:618042 OMIM:259720 OMIM:301056 OMIM:617099 OMIM:618067 OMIM:606054 OMIM:607685 OMIM:131440 OMIM:615816 ORPHA:443811 OMIM:619708 ORPHA:447 OMIM:615513 OMIM:619281 OMIM:619802 OMIM:615214 OMIM:616005 ORPHA:53035 OMIM:614878 OMIM:613179 ORPHA:760 OMIM:618048 OMIM:619301 ORPHA:540 OMIM:603553 OMIM:620005 OMIM:615559 OMIM:617591 OMIM:158350 OMIM:605309 OMIM:619924 ORPHA:79477 OMIM:618986 OMIM:618987 ORPHA:183707 OMIM:608203 OMIM:233650 ORPHA:231154 ORPHA:331206 OMIM:601457 OMIM:618534 OMIM:615895 OMIM:274000 ORPHA:221016 OMIM:619652 OMIM:618108 OMIM:250250 ORPHA:175 OMIM:610181 ORPHA:353298 OMIM:616651 OMIM:619767 OMIM:612562 OMIM:618310 OMIM:614900 OMIM:612528 ORPHA:86841 OMIM:612527 OMIM:105650 OMIM:606164 OMIM:612563 OMIM:618624 OMIM:615190 OMIM:147750 ORPHA:2307 OMIM:617053 OMIM:619041 OMIM:159550 OMIM:613845 OMIM:301082 OMIM:617056 ORPHA:75564 OMIM:617575 OMIM:308240 ORPHA:84064 ORPHA:88621 OMIM:603585 ORPHA:238459 OMIM:266265 ORPHA:99843 ORPHA:79259 OMIM:232220 OMIM:232240 OMIM:619693 OMIM:229050 ORPHA:90045 ORPHA:470 OMIM:222700 OMIM:242900 ORPHA:1830 OMIM:617475 OMIM:619375 ORPHA:79124 OMIM:619707 OMIM:256500 OMIM:619745 OMIM:158310 OMIM:618752 ORPHA:391487 OMIM:614162 OMIM:616636 OMIM:618886 OMIM:615952 ORPHA:2314 OMIM:147060 OMIM:615934 OMIM:614868 OMIM:603552 OMIM:619381 OMIM:302060 ORPHA:1930 OMIM:619630 OMIM:231095 OMIM:616941 OMIM:619824 ORPHA:859 OMIM:275350 OMIM:616949 OMIM:127550 OMIM:613989 OMIM:619126 ORPHA:98826 OMIM:604250 OMIM:616740 ORPHA:1328 OMIM:618213 OMIM:613990 OMIM:301080 OMIM:301078 OMIM:616744 ORPHA:32960 OMIM:619510 ORPHA:93357 OMIM:271510 ORPHA:444463 OMIM:619220 OMIM:615387 OMIM:616084 OMIM:243150 ORPHA:391307 ORPHA:163956 OMIM:615518 OMIM:608898 OMIM:604173 OMIM:216550 ORPHA:193 ORPHA:505248 OMIM:617303 OMIM:615285 OMIM:300299 ORPHA:906 OMIM:301000 ORPHA:86788 OMIM:150550 OMIM:614493 OMIM:616541 OMIM:617006 ORPHA:911 OMIM:269840 OMIM:618282 OMIM:619488 OMIM:619644 OMIM:619321

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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