Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal leukocyte morphology (HP:0001881)

Parent Node:
Abnormal leukocyte count (HP:0011893)

..Starting node
..Leukocytosis (HP:0001974)

Term ID:

1974

Name:

Leukocytosis

Synonym:

Elevated white blood count; High white blood count; Increased blood leukocyte number

Definition:

An abnormal increase in the number of leukocytes in the blood.

Comments:

Reference:

HP:0001974

Genes and Diseases:

Child Nodes:

........

Eosinophilia (HP:0001880)

........

Lymphocytosis (HP:0100827)

................... HP:0005404 Increased B cell count
................... HP:0100828 Increased T cell count

Sister Nodes:

Abnormal lymphocyte count (HP:0040088)

Abnormal monocyte count (HP:0012310)

Abnormal neutrophil count (HP:0011991)

Leukopenia (HP:0001882)

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:0001974	HP:0001974	Leukocytosis	0	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	51
HP:0001974	HP:0001974	Leukocytosis	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent	91
HP:0001974	HP:0001974	Leukocytosis	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	75
HP:0001974	HP:0001974	Leukocytosis	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:0001974	HP:0001974	Leukocytosis	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0001974	HP:0001974	Leukocytosis	0	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2		106
HP:0001974	HP:0001974	Leukocytosis	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0001974	HP:0001974	Leukocytosis	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0001974	HP:0001974	Leukocytosis	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0001974	HP:0001974	Leukocytosis	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001974	HP:0001974	Leukocytosis	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0001974	HP:0001974	Leukocytosis	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0001974	HP:0001974	Leukocytosis	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	101
HP:0001974	HP:0001974	Leukocytosis	0	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	5
HP:0001974	HP:0001974	Leukocytosis	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001974	HP:0001974	Leukocytosis	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001974	HP:0001974	Leukocytosis	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0001974	HP:0001974	Leukocytosis	0	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0001974	HP:0001974	Leukocytosis	0	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0001974	HP:0001974	Leukocytosis	0	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis		45
HP:0001974	HP:0001974	Leukocytosis	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001974	HP:0001974	Leukocytosis	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.	118
HP:0001974	HP:0001974	Leukocytosis	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001974	HP:0001974	Leukocytosis	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001974	HP:0001974	Leukocytosis	0	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	272
HP:0001974	HP:0001974	Leukocytosis	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0001974	HP:0001974	Leukocytosis	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001974	HP:0001974	Leukocytosis	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0001974	HP:0001974	Leukocytosis	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0001974	HP:0001974	Leukocytosis	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0001974	HP:0001974	Leukocytosis	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001974	HP:0001974	Leukocytosis	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0001974	HP:0001974	Leukocytosis	0	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	1371
HP:0001974	HP:0001974	Leukocytosis	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	515
HP:0001974	HP:0001974	Leukocytosis	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001974	HP:0001974	Leukocytosis	0	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	5
HP:0001974	HP:0001974	Leukocytosis	0	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	39
HP:0001974	HP:0001974	Leukocytosis	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0001974	HP:0001974	Leukocytosis	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0001974	HP:0001974	Leukocytosis	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001974	HP:0001974	Leukocytosis	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001974	HP:0001974	Leukocytosis	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0001974	HP:0001974	Leukocytosis	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001974	HP:0001974	Leukocytosis	0	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001974	HP:0001974	Leukocytosis	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001974	HP:0001974	Leukocytosis	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0001974	HP:0001974	Leukocytosis	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001974	HP:0001974	Leukocytosis	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001974	HP:0001974	Leukocytosis	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001974	HP:0001974	Leukocytosis	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001974	HP:0001974	Leukocytosis	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001974	HP:0001974	Leukocytosis	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0001974	HP:0001974	Leukocytosis	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0001974	HP:0001974	Leukocytosis	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001974	HP:0001974	Leukocytosis	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001974	HP:0001974	Leukocytosis	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.	101
HP:0001974	HP:0001974	Leukocytosis	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040283 - Occasional	137
HP:0001974	HP:0001974	Leukocytosis	0	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome	HP:0040283 - Occasional	137
HP:0001974	HP:0001974	Leukocytosis	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001974	HP:0001974	Leukocytosis	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional	580
HP:0001974	HP:0001974	Leukocytosis	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040282 - Frequent	580
HP:0001974	HP:0001974	Leukocytosis	0	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.	580
HP:0001974	HP:0001974	Leukocytosis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001974	HP:0001974	Leukocytosis	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional	35
HP:0001974	HP:0001974	Leukocytosis	0	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69		23
HP:0001974	HP:0001974	Leukocytosis	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0001974	HP:0001974	Leukocytosis	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0001974	HP:0001974	Leukocytosis	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0001974	HP:0001974	Leukocytosis	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	48
HP:0001974	HP:0001974	Leukocytosis	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0001974	HP:0001974	Leukocytosis	0	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0001974	HP:0001974	Leukocytosis	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0001974	HP:0001974	Leukocytosis	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0001974	HP:0001974	Leukocytosis	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001974	HP:0001974	Leukocytosis	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001974	HP:0001974	Leukocytosis	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0001974	HP:0001974	Leukocytosis	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001974	HP:0001974	Leukocytosis	0	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0001974	HP:0001974	Leukocytosis	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0001974	HP:0001974	Leukocytosis	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0001974	HP:0001974	Leukocytosis	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0001974	HP:0001974	Leukocytosis	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0001974	HP:0001974	Leukocytosis	0	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0001974	HP:0001974	Leukocytosis	0	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR		1
HP:0001974	HP:0001974	Leukocytosis	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	88
HP:0001974	HP:0001974	Leukocytosis	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	88
HP:0001974	HP:0001974	Leukocytosis	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy		11
HP:0001974	HP:0001974	Leukocytosis	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040282 - Frequent	186
HP:0001974	HP:0001974	Leukocytosis	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0001974	HP:0001974	Leukocytosis	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040282 - Frequent	281
HP:0001974	HP:0001974	Leukocytosis	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0001974	HP:0001974	Leukocytosis	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0001974	HP:0001974	Leukocytosis	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0001974	HP:0001974	Leukocytosis	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0001974	HP:0001974	Leukocytosis	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0001974	HP:0001974	Leukocytosis	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001974	HP:0001974	Leukocytosis	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001974	HP:0001974	Leukocytosis	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001974	HP:0001974	Leukocytosis	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0001974	HP:0001974	Leukocytosis	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent	217
HP:0001974	HP:0001974	Leukocytosis	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001974	HP:0001974	Leukocytosis	0	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0001974	HP:0001974	Leukocytosis	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0001974	HP:0001974	Leukocytosis	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0001974	HP:0001974	Leukocytosis	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001974	HP:0001974	Leukocytosis	0	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0001974	HP:0001974	Leukocytosis	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0001974	HP:0001974	Leukocytosis	0	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0001974	HP:0001974	Leukocytosis	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0001974	HP:0001974	Leukocytosis	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001974	HP:0001974	Leukocytosis	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0001974	HP:0001974	Leukocytosis	0	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0001974	HP:0001974	Leukocytosis	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001974	HP:0001974	Leukocytosis	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001974	HP:0001974	Leukocytosis	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001974	HP:0001974	Leukocytosis	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001974	HP:0001974	Leukocytosis	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional	563
HP:0001974	HP:0001974	Leukocytosis	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	3
HP:0001974	HP:0001974	Leukocytosis	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	134
HP:0001974	HP:0001974	Leukocytosis	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001974	HP:0001974	Leukocytosis	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001974	HP:0001974	Leukocytosis	0	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	51
HP:0001974	HP:0001974	Leukocytosis	0	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	1
HP:0001974	HP:0001974	Leukocytosis	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001974	HP:0001974	Leukocytosis	0	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001974	HP:0001974	Leukocytosis	0	RAC2 CL E G H	5880	9802	ORPHA:183707	Neutrophil immunodeficiency syndrome	HP:0040281 - Very frequent	9
HP:0001974	HP:0001974	Leukocytosis	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	127
HP:0001974	HP:0001974	Leukocytosis	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0001974	HP:0001974	Leukocytosis	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0001974	HP:0001974	Leukocytosis	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	50
HP:0001974	HP:0001974	Leukocytosis	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0001974	HP:0001974	Leukocytosis	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0001974	HP:0001974	Leukocytosis	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	2
HP:0001974	HP:0001974	Leukocytosis	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001974	HP:0001974	Leukocytosis	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0001974	HP:0001974	Leukocytosis	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001974	HP:0001974	Leukocytosis	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001974	HP:0001974	Leukocytosis	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	37
HP:0001974	HP:0001974	Leukocytosis	0	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0001974	HP:0001974	Leukocytosis	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0001974	HP:0001974	Leukocytosis	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0001974	HP:0001974	Leukocytosis	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0001974	HP:0001974	Leukocytosis	0	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	181
HP:0001974	HP:0001974	Leukocytosis	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.	86
HP:0001974	HP:0001974	Leukocytosis	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040283 - Occasional	86
HP:0001974	HP:0001974	Leukocytosis	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0001974	HP:0001974	Leukocytosis	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001974	HP:0001974	Leukocytosis	0	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome		26
HP:0001974	HP:0001974	Leukocytosis	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040281 - Very frequent	71
HP:0001974	HP:0001974	Leukocytosis	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0001974	HP:0001974	Leukocytosis	0	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	34
HP:0001974	HP:0001974	Leukocytosis	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001974	HP:0001974	Leukocytosis	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0001974	HP:0001974	Leukocytosis	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001974	HP:0001974	Leukocytosis	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0001974	HP:0001974	Leukocytosis	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0001974	HP:0001974	Leukocytosis	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0001974	HP:0001974	Leukocytosis	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	110
HP:0001974	HP:0001974	Leukocytosis	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0001974	HP:0001974	Leukocytosis	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0001974	HP:0001974	Leukocytosis	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0001974	HP:0001974	Leukocytosis	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	20
HP:0001974	HP:0001974	Leukocytosis	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	22
HP:0001974	HP:0001974	Leukocytosis	0	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0001974	HP:0001974	Leukocytosis	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001974	HP:0001974	Leukocytosis	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0001974	HP:0001974	Leukocytosis	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0001974	HP:0001974	Leukocytosis	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0001974	HP:0001974	Leukocytosis	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0001974	HP:0001974	Leukocytosis	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0001974	HP:0001974	Leukocytosis	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	6
HP:0001974	HP:0001974	Leukocytosis	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	3
HP:0001974	HP:0001974	Leukocytosis	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040282 - Frequent	131
HP:0001974	HP:0001974	Leukocytosis	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001974	HP:0001974	Leukocytosis	0	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0001974	HP:0001974	Leukocytosis	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	2
HP:0001974	HP:0001974	Leukocytosis	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0001974	HP:0001974	Leukocytosis	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	5
HP:0001974	HP:0001974	Leukocytosis	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001974	HP:0001974	Leukocytosis	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001974	HP:0001974	Leukocytosis	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001974	HP:0001974	Leukocytosis	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001974	HP:0001974	Leukocytosis	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	9
HP:0001974	HP:0001974	Leukocytosis	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001974	HP:0001974	Leukocytosis	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	1
HP:0001974	HP:0001974	Leukocytosis	0	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0001974	HP:0001974	Leukocytosis	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001974	HP:0001880	Eosinophilia	1	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	75
HP:0001974	HP:0001880	Eosinophilia	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:0001974	HP:0100827	Lymphocytosis	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	.
HP:0001974	HP:0001880	Eosinophilia	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0001974	HP:0001880	Eosinophilia	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0001974	HP:0001880	Eosinophilia	1	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:0001974	HP:0100827	Lymphocytosis	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001974	HP:0001880	Eosinophilia	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare	1
HP:0001974	HP:0001880	Eosinophilia	1	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A	.	323
HP:0001974	HP:0100827	Lymphocytosis	1	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0001974	HP:0001880	Eosinophilia	1	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis	.	45
HP:0001974	HP:0001880	Eosinophilia	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001974	HP:0100827	Lymphocytosis	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0001974	HP:0001880	Eosinophilia	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0001974	HP:0100827	Lymphocytosis	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001974	HP:0001880	Eosinophilia	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0001974	HP:0001880	Eosinophilia	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001974	HP:0001880	Eosinophilia	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0001974	HP:0001880	Eosinophilia	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0001974	HP:0001880	Eosinophilia	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0001974	HP:0001880	Eosinophilia	1	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0001974	HP:0001880	Eosinophilia	1	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	515
HP:0001974	HP:0001880	Eosinophilia	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0001974	HP:0001880	Eosinophilia	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0001974	HP:0001880	Eosinophilia	1	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0001974	HP:0001880	Eosinophilia	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001974	HP:0001880	Eosinophilia	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0001974	HP:0100827	Lymphocytosis	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional	65
HP:0001974	HP:0001880	Eosinophilia	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0001974	HP:0001880	Eosinophilia	1	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0001974	HP:0100827	Lymphocytosis	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001974	HP:0001880	Eosinophilia	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0001974	HP:0001880	Eosinophilia	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001974	HP:0001880	Eosinophilia	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0001974	HP:0001880	Eosinophilia	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0001974	HP:0100827	Lymphocytosis	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0001974	HP:0001880	Eosinophilia	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0001974	HP:0001880	Eosinophilia	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0001974	HP:0100827	Lymphocytosis	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0001974	HP:0100827	Lymphocytosis	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001974	HP:0001880	Eosinophilia	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001974	HP:0001880	Eosinophilia	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0001974	HP:0100827	Lymphocytosis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001974	HP:0001880	Eosinophilia	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare	2
HP:0001974	HP:0001880	Eosinophilia	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent	52
HP:0001974	HP:0001880	Eosinophilia	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0001974	HP:0001880	Eosinophilia	1	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	48
HP:0001974	HP:0001880	Eosinophilia	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0001974	HP:0001880	Eosinophilia	1	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0001974	HP:0100827	Lymphocytosis	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0001974	HP:0001880	Eosinophilia	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0001974	HP:0001880	Eosinophilia	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001974	HP:0001880	Eosinophilia	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001974	HP:0001880	Eosinophilia	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0001974	HP:0001880	Eosinophilia	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0001974	HP:0100827	Lymphocytosis	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0001974	HP:0001880	Eosinophilia	1	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	88
HP:0001974	HP:0100827	Lymphocytosis	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040282 - Frequent	11
HP:0001974	HP:0100827	Lymphocytosis	1	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001974	HP:0001880	Eosinophilia	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001974	HP:0001880	Eosinophilia	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001974	HP:0100827	Lymphocytosis	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0001974	HP:0001880	Eosinophilia	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0001974	HP:0001880	Eosinophilia	1	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia	.	28
HP:0001974	HP:0001880	Eosinophilia	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001974	HP:0001880	Eosinophilia	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0001974	HP:0001880	Eosinophilia	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001974	HP:0001880	Eosinophilia	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0001974	HP:0100827	Lymphocytosis	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0001974	HP:0100827	Lymphocytosis	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001974	HP:0100827	Lymphocytosis	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001974	HP:0001880	Eosinophilia	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0001974	HP:0001880	Eosinophilia	1	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	127
HP:0001974	HP:0001880	Eosinophilia	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	127
HP:0001974	HP:0001880	Eosinophilia	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0001974	HP:0001880	Eosinophilia	1	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	50
HP:0001974	HP:0001880	Eosinophilia	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	50
HP:0001974	HP:0001880	Eosinophilia	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0001974	HP:0100827	Lymphocytosis	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0001974	HP:0001880	Eosinophilia	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001974	HP:0100827	Lymphocytosis	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001974	HP:0001880	Eosinophilia	1	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	37
HP:0001974	HP:0100827	Lymphocytosis	1	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2	.	34
HP:0001974	HP:0001880	Eosinophilia	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0001974	HP:0001880	Eosinophilia	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0001974	HP:0100827	Lymphocytosis	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	37
HP:0001974	HP:0001880	Eosinophilia	1	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome	HP:0040281 - Very frequent	26
HP:0001974	HP:0001880	Eosinophilia	1	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040283 - Occasional	101
HP:0001974	HP:0001880	Eosinophilia	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001974	HP:0001880	Eosinophilia	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0001974	HP:0001880	Eosinophilia	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0001974	HP:0001880	Eosinophilia	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0001974	HP:0001880	Eosinophilia	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent	110
HP:0001974	HP:0001880	Eosinophilia	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0001974	HP:0001880	Eosinophilia	1	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0001974	HP:0001880	Eosinophilia	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0001974	HP:0001880	Eosinophilia	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0001974	HP:0001880	Eosinophilia	1	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0001974	HP:0001880	Eosinophilia	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001974	HP:0100827	Lymphocytosis	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	81
HP:0001974	HP:0100827	Lymphocytosis	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0001974	HP:0001880	Eosinophilia	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0001974	HP:0001880	Eosinophilia	1	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	HP:0040284 - Very rare	1
HP:0001974	HP:0032151	Episodic eosinophilia	2	CL E G H
HP:0001974	HP:0100828	Increased T cell count	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	1
HP:0001974	HP:0005404	Increased 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:0001974	HP:0032061	Hypereosinophilia	2	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001974	HP:0005404	Increased B cell count	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0001974	HP:0005404	Increased B cell count	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0001974	HP:0032061	Hypereosinophilia	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0001974	HP:0005404	Increased B cell count	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0001974	HP:0005404	Increased B cell count	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0001974	HP:0100828	Increased T cell count	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	2
HP:0001974	HP:0032061	Hypereosinophilia	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001974	HP:0005404	Increased B cell count	2	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001974	HP:0032061	Hypereosinophilia	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001974	HP:0005404	Increased B cell count	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0001974	HP:0005404	Increased B cell count	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001974	HP:0005404	Increased B cell count	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001974	HP:0005404	Increased B cell count	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0001974	HP:0032061	Hypereosinophilia	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0001974	HP:0032061	Hypereosinophilia	2	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY	.	1

Genes (147) :ABL1 ACAT1 ADA ADA2 ANKRD26 ARPC1B ASXL1 ATRX BCL11B BCOR BCR BRAF BTNL2 CALR CAPN3 CARD11 CARD9 CASK CASP10 CASR CBL CD247 CD3D CD3E CDH23 CDSN CFTR CHD7 CLPB CPA1 CTRC DCLRE1C DOCK8 EIF2AK3 ELANE ELF4 EXTL3 FAS FASLG FERMT3 FIP1L1 FOCAD FOXP3 G6PD GATA2 GFI1 HBB HLA-DRB1 HMGCL IFNG IFNGR1 IKBKG IL2RG IL36RN IL37 IL6ST IL7R IPO8 IRF2BP2 IRF8 ITGB2 JAK1 JAK2 KIT KRAS LACC1 LIG4 LMNB2 LPIN2 MEFV MICU1 MPL MVK NABP1 NCKAP1L NHLRC2 NLRP1 NLRP12 NLRP3 NPM1 NR3C1 NRAS NUMA1 OAS1 OSTM1 OTULIN PDGFRA PDGFRB PGM3 PIK3CD PIK3CG PKHD1 PML PRKAR1A PRKCD PRSS1 PRSS2 PTPRC RAC2 RAG1 RAG2 RARA RASGRP1 RBCK1 RBM8A REL RMRP RNASEH2B RNU4ATAC RUNX1 SALL4 SF3B1 SH2D1A SLC27A4 SLC35C1 SLC46A1 SPINK1 SPINK5 SREBF1 SRP54 SRSF2 STAT2 STAT3 STAT5B TBK1 TBL1XR1 TBX21 TCIRG1 TET2 TGFB1 TICAM1 TLR3 TNFRSF1A TP53 TRAC TRAF3 TTC7A UNC93B1 USP48 USP8 WAS XIAP XRCC4 ZAP70 ZBTB16 ZNF341 ZPR1

Diseases (119) :ORPHA:521 ORPHA:134 ORPHA:39041 OMIM:102700 OMIM:615688 OMIM:188000 OMIM:617718 ORPHA:98850 ORPHA:98849 ORPHA:96253 OMIM:617237 OMIM:618092 ORPHA:520 ORPHA:797 ORPHA:824 OMIM:253600 OMIM:616452 OMIM:617638 OMIM:212050 OMIM:300908 ORPHA:3261 OMIM:603909 ORPHA:676 OMIM:610163 ORPHA:169160 OMIM:270300 ORPHA:486 OMIM:603554 OMIM:602450 OMIM:243700 ORPHA:1667 OMIM:202700 OMIM:301074 OMIM:617425 ORPHA:508533 OMIM:601859 OMIM:612840 OMIM:619991 OMIM:304790 ORPHA:3226 ORPHA:98827 ORPHA:231222 ORPHA:232 OMIM:603903 ORPHA:20 OMIM:618963 OMIM:209950 OMIM:308300 ORPHA:464 OMIM:614204 OMIM:619398 OMIM:618523 ORPHA:169154 OMIM:619472 OMIM:226990 OMIM:116920 OMIM:618999 OMIM:263300 OMIM:614470 OMIM:618795 ORPHA:99812 ORPHA:79087 ORPHA:77297 OMIM:249100 ORPHA:3243 OMIM:615673 OMIM:260920 OMIM:610377 OMIM:618982 OMIM:618278 OMIM:617388 OMIM:611762 ORPHA:1451 OMIM:607115 OMIM:120100 OMIM:191900 OMIM:618042 OMIM:259720 OMIM:617099 OMIM:607685 OMIM:131440 OMIM:615816 ORPHA:443811 OMIM:619281 OMIM:619802 ORPHA:53035 OMIM:615559 OMIM:619924 OMIM:608203 ORPHA:183707 ORPHA:331206 OMIM:615895 OMIM:274000 OMIM:619652 OMIM:610181 OMIM:616651 ORPHA:353298 OMIM:147750 ORPHA:2307 ORPHA:75564 OMIM:308240 ORPHA:88621 ORPHA:99843 ORPHA:90045 OMIM:256500 OMIM:158310 OMIM:618886 ORPHA:2314 OMIM:147060 ORPHA:1930 OMIM:619630 OMIM:618213 ORPHA:32960 OMIM:615387 OMIM:243150 OMIM:301000 ORPHA:911 OMIM:618282 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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