Human Phenotype Ontology

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:0001881	HP:0001881	Abnormal leukocyte morphology	0	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy		254
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia		51
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid		51
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency		91
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	11
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy		208
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy		307
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome		75
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0001881	HP:0001881	Abnormal leukocyte morphology	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:0001881	HP:0001881	Abnormal leukocyte morphology	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis		19
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency		62
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy		95
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2		106
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease		39
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis		39
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ARHGAP26 CL E G H	23092	17073	OMIM:607785	Juvenile myelomonocytic leukemia		12
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis		145
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy		204
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BAX CL E G H	581	959	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia		5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BCR CL E G H	613	1014	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid		5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9		35
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis		45
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis		272
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis		317
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CBL CL E G H	867	1541	OMIM:607785	Juvenile myelomonocytic leukemia		317
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19		18
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD4 CL E G H	920	1678	OMIM:613949	Okt4 epitope deficiency		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CEBPA CL E G H	1050	1833	OMIM:601626	Leukemia, acute myeloid		65
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis		1371
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome		515
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CHIC2 CL E G H	26511	1935	OMIM:601626	Leukemia, acute myeloid
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040283 - Occasional	102
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3		216
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8		7
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis		5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy		46
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CSF3R CL E G H	1441	2439	OMIM:617014	Neutropenia, severe congenital, 7, autosomal recessive		34
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary		34
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy		104
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides		10
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome		10
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus		10
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis		39
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease		27
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease		111
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy		263
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	65
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy		1496
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3		5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DNMT3A CL E G H	1788	2978	OMIM:601626	Leukemia, acute myeloid		44
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy		55
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy		358
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy		747
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DUT CL E G H	1854	3078	OMIM:620044
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia		79
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to		12
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ERCC6L2 CL E G H	375748	26922	OMIM:615715	Bone marrow failure syndrome 2		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ETV6 CL E G H	2120	3495	OMIM:601626	Leukemia, acute myeloid		13
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency		60
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency		32
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus		6
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy		36
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy		184
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FLT3 CL E G H	2322	3765	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		61
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FLT3 CL E G H	2322	3765	OMIM:601626	Leukemia, acute myeloid		61
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency		65
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities		29
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome		137
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GATA2 CL E G H	2624	4171	OMIM:601626	Leukemia, acute myeloid		137
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome		137
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy		35
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GNB1 CL E G H	2782	4396	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		12
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency		12
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia		580
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia		580
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69		23
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome		48
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0001881	Abnormal leukocyte morphology	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:0001881	HP:0001881	Abnormal leukocyte morphology	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IRAK4 CL E G H	51135	17967	ORPHA:70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency		58
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia		105
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive		8
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia		57
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	JAK2 CL E G H	3717	6192	OMIM:601626	Leukemia, acute myeloid		57
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		57
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis		57
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome		46
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis		327
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	KIT CL E G H	3815	6342	OMIM:601626	Leukemia, acute myeloid		327
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous		327
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	KIT CL E G H	3815	6342	ORPHA:280794	Pseudoxanthomatous diffuse cutaneous mastocytosis		327
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	KRAS CL E G H	3845	6407	OMIM:601626	Leukemia, acute myeloid		196
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy		279
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040281 - Very frequent	70
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy		286
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome		88
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome		88
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease		73
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy		645
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy		11
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome		186
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LPP CL E G H	4026	6679	OMIM:601626	Leukemia, acute myeloid		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040281 - Very frequent	239
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	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:0001881	HP:0001881	Abnormal leukocyte morphology	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MLLT10 CL E G H	8028	16063	OMIM:601626	Leukemia, acute myeloid
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia		97
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		97
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis		97
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy		1143
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy		452
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy		1269
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease		297
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy		217
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NBN CL E G H	4683	7652	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		706
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease		13
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I		13
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease		67
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II		67
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease		37
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy		167
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NF1 CL E G H	4763	7765	OMIM:607785	Juvenile myelomonocytic leukemia		1952
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome		217
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NPM1 CL E G H	4869	7910	OMIM:601626	Leukemia, acute myeloid		12
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NUMA1 CL E G H	4926	8059	OMIM:612376	Acute promyelocytic leukemia
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NUP214 CL E G H	8021	8064	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NUP214 CL E G H	8021	8064	OMIM:601626	Leukemia, acute myeloid		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	26
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PICALM CL E G H	8301	15514	OMIM:601626	Leukemia, acute myeloid		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome		36
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome		162
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease		563
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy		57
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy		65
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9		23
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy		148
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis		51
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy		241
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy		59
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome		948
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PTPN11 CL E G H	5781	9644	OMIM:607785	Juvenile myelomonocytic leukemia		291
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAC2 CL E G H	5880	9802	ORPHA:183707	Neutrophil immunodeficiency syndrome		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy		212
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome		127
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0001881	HP:0001881	Abnormal leukocyte morphology	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:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome		50
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0001881	HP:0001881	Abnormal leukocyte morphology	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:0001881	HP:0001881	Abnormal leukocyte morphology	0	RARA CL E G H	5914	9864	OMIM:612376	Acute promyelocytic leukemia		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA		365
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy		363
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome		37
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5		77
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	77
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis		181
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia		181
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RUNX1 CL E G H	861	10471	OMIM:601626	Leukemia, acute myeloid		181
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy		181
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome		86
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SCN10A CL E G H	6336	10582	ORPHA:90026	Primary erythromelalgia		146
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SCN11A CL E G H	11280	10583	ORPHA:90026	Primary erythromelalgia		19
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy		1134
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SCN9A CL E G H	6335	10597	ORPHA:90026	Primary erythromelalgia		318
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy		304
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy		223
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SH3GL1 CL E G H	6455	10830	OMIM:601626	Leukemia, acute myeloid
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease		78
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease		78
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome		26
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG		24
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary		101
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance		104
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis		34
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis		19
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TAL1 CL E G H	6886	11556	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TAL2 CL E G H	6887	11557	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis		20
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia		16
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy		78
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		48
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2		48
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		238
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	238
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TERT CL E G H	7015	11730	OMIM:601626	Leukemia, acute myeloid		238
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease		13
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis		6
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		60
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	60
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis		3
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy		136
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TNFRSF13B CL E G H	23495	18153	OMIM:609529	Immunoglobulin A deficiency 2		32
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome		131
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy		73
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy		180
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia		911
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome		911
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy		230
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease		31
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus		56
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome		11
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy		7128
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy		85
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease		22
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis		5
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0001881	Abnormal leukocyte morphology	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy		254
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0001881	HP:0001909	Leukemia	1	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia		51
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia		51
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia		51
HP:0001881	HP:0001909	Leukemia	1	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid		51
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency		91
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy		208
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy		307
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	75
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome		75
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome		75
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	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:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	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:0001881	HP:0011893	Abnormal leukocyte 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:0001881	HP:0001909	Leukemia	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0001881	HP:0001909	Leukemia	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0001881	HP:0001909	Leukemia	1	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0001881	HP:0011893	Abnormal leukocyte count	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001881	HP:0011893	Abnormal leukocyte count	1	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis		19
HP:0001881	HP:0011893	Abnormal leukocyte count	1	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis		19
HP:0001881	HP:0001909	Leukemia	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency		62
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0001881	HP:0011893	Abnormal leukocyte count	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0001881	HP:0001909	Leukemia	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare	2
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy		95
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2		106
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0011893	Abnormal leukocyte count	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0001881	HP:0001909	Leukemia	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0001881	HP:0001909	Leukemia	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease		39
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis		39
HP:0001881	HP:0001909	Leukemia	1	ARHGAP26 CL E G H	23092	17073	OMIM:607785	Juvenile myelomonocytic leukemia		12
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0001881	HP:0001909	Leukemia	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	145
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis		145
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis		145
HP:0001881	HP:0001909	Leukemia	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0001909	Leukemia	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0001881	HP:0001909	Leukemia	1	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0001881	HP:0011893	Abnormal leukocyte count	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0011893	Abnormal leukocyte count	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy		204
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001881	HP:0001909	Leukemia	1	BAX CL E G H	581	959	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		4
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0001881	HP:0011893	Abnormal leukocyte count	1	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0001881	HP:0011893	Abnormal leukocyte 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:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0001881	HP:0011893	Abnormal leukocyte count	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0001881	HP:0001909	Leukemia	1	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia		5
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia		5
HP:0001881	HP:0011893	Abnormal leukocyte count	1	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia		5
HP:0001881	HP:0001909	Leukemia	1	BCR CL E G H	613	1014	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		5
HP:0001881	HP:0001909	Leukemia	1	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid		5
HP:0001881	HP:0001909	Leukemia	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0001881	HP:0001909	Leukemia	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0001881	HP:0011893	Abnormal leukocyte count	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0001881	HP:0011893	Abnormal leukocyte count	1	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0001881	HP:0011893	Abnormal leukocyte count	1	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0001881	HP:0011893	Abnormal leukocyte count	1	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9		35
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001881	HP:0011893	Abnormal leukocyte count	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001881	HP:0001909	Leukemia	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0001881	HP:0011893	Abnormal leukocyte count	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0001881	HP:0011893	Abnormal leukocyte count	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0001881	HP:0001909	Leukemia	1	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0001881	HP:0001909	Leukemia	1	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent
HP:0001881	HP:0011893	Abnormal leukocyte count	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001881	HP:0011893	Abnormal leukocyte count	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0001881	HP:0011893	Abnormal leukocyte count	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0001881	HP:0011893	Abnormal leukocyte count	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001881	HP:0001909	Leukemia	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0001881	HP:0001909	Leukemia	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0001881	HP:0001909	Leukemia	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0001881	HP:0001909	Leukemia	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0001881	HP:0001909	Leukemia	1	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia		1
HP:0001881	HP:0001909	Leukemia	1	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis		45
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis		45
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis		272
HP:0001881	HP:0001909	Leukemia	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	317
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis		317
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis		317
HP:0001881	HP:0001909	Leukemia	1	CBL CL E G H	867	1541	OMIM:607785	Juvenile myelomonocytic leukemia		317
HP:0001881	HP:0001909	Leukemia	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19		18
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19		18
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CD4 CL E G H	920	1678	OMIM:613949	Okt4 epitope deficiency		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001881	HP:0001909	Leukemia	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0001881	HP:0001909	Leukemia	1	CEBPA CL E G H	1050	1833	OMIM:601626	Leukemia, acute myeloid		65
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency		3
HP:0001881	HP:0001909	Leukemia	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis		1371
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	515
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome		515
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome		515
HP:0001881	HP:0001909	Leukemia	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0001881	HP:0001909	Leukemia	1	CHIC2 CL E G H	26511	1935	OMIM:601626	Leukemia, acute myeloid
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3		216
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0001881	HP:0001909	Leukemia	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0001881	HP:0011893	Abnormal leukocyte count	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8		7
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8		7
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis		5
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0001881	HP:0001909	Leukemia	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1	.	291
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy		46
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CSF3R CL E G H	1441	2439	OMIM:617014	Neutropenia, severe congenital, 7, autosomal recessive		34
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CSF3R CL E G H	1441	2439	OMIM:617014	Neutropenia, severe congenital, 7, autosomal recessive		34
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary		34
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary		34
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy		104
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent	10
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent	10
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus		10
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis		39
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease		27
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease		111
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001881	HP:0011893	Abnormal leukocyte count	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV		2
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	94
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0001881	HP:0011893	Abnormal leukocyte count	1	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0011893	Abnormal leukocyte count	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0001881	HP:0011893	Abnormal leukocyte count	1	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0011893	Abnormal leukocyte count	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0001909	Leukemia	1	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0001881	HP:0011893	Abnormal leukocyte count	1	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001881	HP:0011893	Abnormal leukocyte count	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy		263
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0001881	HP:0001909	Leukemia	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0001881	HP:0011893	Abnormal leukocyte count	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0001881	HP:0011893	Abnormal leukocyte count	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy		1496
HP:0001881	HP:0001909	Leukemia	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3		5
HP:0001881	HP:0001909	Leukemia	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	5
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0001881	HP:0011893	Abnormal leukocyte count	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0001881	HP:0001909	Leukemia	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0001881	HP:0011893	Abnormal leukocyte count	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0001881	HP:0011893	Abnormal leukocyte count	1	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0001881	HP:0001909	Leukemia	1	DNMT3A CL E G H	1788	2978	OMIM:601626	Leukemia, acute myeloid		44
HP:0001881	HP:0001909	Leukemia	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0001881	HP:0011893	Abnormal leukocyte count	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0001881	HP:0011893	Abnormal leukocyte count	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0001881	HP:0011893	Abnormal leukocyte count	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0001881	HP:0011893	Abnormal leukocyte count	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0001881	HP:0011893	Abnormal leukocyte count	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0011893	Abnormal leukocyte count	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy		55
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy		358
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy		747
HP:0001881	HP:0001909	Leukemia	1	DUT CL E G H	1854	3078	OMIM:620044
HP:0001881	HP:0001909	Leukemia	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0001881	HP:0001909	Leukemia	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0001881	HP:0011893	Abnormal leukocyte count	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0001881	HP:0001909	Leukemia	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia		79
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia		79
HP:0001881	HP:0001909	Leukemia	1	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0001881	HP:0001909	Leukemia	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1	.	250
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0011893	Abnormal leukocyte count	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0001909	Leukemia	1	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to	.	12
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ERCC6L2 CL E G H	375748	26922	OMIM:615715	Bone marrow failure syndrome 2		4
HP:0001881	HP:0001909	Leukemia	1	ETV6 CL E G H	2120	3495	OMIM:601626	Leukemia, acute myeloid		13
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0001881	HP:0001909	Leukemia	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0001881	HP:0001909	Leukemia	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0001909	Leukemia	1	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency		60
HP:0001881	HP:0001909	Leukemia	1	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency		32
HP:0001881	HP:0001909	Leukemia	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0001881	HP:0001909	Leukemia	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0001881	HP:0001909	Leukemia	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.	147
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0001881	HP:0001909	Leukemia	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0001881	HP:0001909	Leukemia	1	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus		6
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus		2
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy		36
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy		184
HP:0001881	HP:0001909	Leukemia	1	FLT3 CL E G H	2322	3765	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		61
HP:0001881	HP:0001909	Leukemia	1	FLT3 CL E G H	2322	3765	OMIM:601626	Leukemia, acute myeloid		61
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0001881	HP:0011893	Abnormal leukocyte 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:0001881	HP:0004332	Abnormal lymphocyte morphology	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency		65
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1		3
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0001881	HP:0011893	Abnormal leukocyte count	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0001881	HP:0011893	Abnormal leukocyte count	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities		29
HP:0001881	HP:0011893	Abnormal leukocyte count	1	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities		29
HP:0001881	HP:0001909	Leukemia	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0001881	HP:0011893	Abnormal leukocyte count	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0001881	HP:0011893	Abnormal leukocyte count	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0001881	HP:0001909	Leukemia	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0001881	HP:0001909	Leukemia	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome		137
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome		137
HP:0001881	HP:0011893	Abnormal leukocyte count	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome		137
HP:0001881	HP:0001909	Leukemia	1	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0001881	HP:0011893	Abnormal leukocyte count	1	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0001881	HP:0001909	Leukemia	1	GATA2 CL E G H	2624	4171	OMIM:601626	Leukemia, acute myeloid		137
HP:0001881	HP:0001909	Leukemia	1	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia	.	137
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0001881	HP:0011893	Abnormal leukocyte count	1	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0001881	HP:0001909	Leukemia	1	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome		137
HP:0001881	HP:0011893	Abnormal leukocyte count	1	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome		137
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy		35
HP:0001881	HP:0011893	Abnormal leukocyte count	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0001881	HP:0001909	Leukemia	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0011893	Abnormal leukocyte count	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0001909	Leukemia	1	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0001881	HP:0011893	Abnormal leukocyte count	1	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001881	HP:0011893	Abnormal leukocyte count	1	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001881	HP:0011893	Abnormal leukocyte count	1	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0001881	HP:0001909	Leukemia	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0001881	HP:0001909	Leukemia	1	GNB1 CL E G H	2782	4396	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		12
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency		12
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0001881	HP:0011893	Abnormal leukocyte count	1	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001881	HP:0001909	Leukemia	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy		2
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0001881	HP:0001909	Leukemia	1	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0001881	HP:0011893	Abnormal leukocyte count	1	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0001881	HP:0011893	Abnormal leukocyte count	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0001881	HP:0011893	Abnormal leukocyte count	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia		580
HP:0001881	HP:0011893	Abnormal leukocyte count	1	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia		580
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0001881	HP:0011893	Abnormal leukocyte count	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001881	HP:0011893	Abnormal leukocyte count	1	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0001881	HP:0011893	Abnormal leukocyte count	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001881	HP:0011893	Abnormal leukocyte count	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0001909	Leukemia	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001881	HP:0001909	Leukemia	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69		23
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0001881	HP:0001909	Leukemia	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	48
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome		48
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome		48
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	94
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	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:0001881	HP:0011893	Abnormal leukocyte 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:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IRAK4 CL E G H	51135	17967	ORPHA:70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency		58
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IRAK4 CL E G H	51135	17967	ORPHA:70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency		58
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia		105
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001881	HP:0011893	Abnormal leukocyte count	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive		8
HP:0001881	HP:0011893	Abnormal leukocyte count	1	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive		8
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0001881	HP:0011893	Abnormal leukocyte count	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0001881	HP:0001909	Leukemia	1	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia		57
HP:0001881	HP:0001909	Leukemia	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0001881	HP:0001909	Leukemia	1	JAK2 CL E G H	3717	6192	OMIM:601626	Leukemia, acute myeloid		57
HP:0001881	HP:0001909	Leukemia	1	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		57
HP:0001881	HP:0001909	Leukemia	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0001881	HP:0011893	Abnormal leukocyte count	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0001881	HP:0011893	Abnormal leukocyte count	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis		57
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0001881	HP:0011893	Abnormal leukocyte count	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0001881	HP:0011893	Abnormal leukocyte count	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0001881	HP:0001909	Leukemia	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis		327
HP:0001881	HP:0001909	Leukemia	1	KIT CL E G H	3815	6342	OMIM:601626	Leukemia, acute myeloid		327
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous		327
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	KIT CL E G H	3815	6342	ORPHA:280794	Pseudoxanthomatous diffuse cutaneous mastocytosis		327
HP:0001881	HP:0001909	Leukemia	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0011893	Abnormal leukocyte count	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin		1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001881	HP:0001909	Leukemia	1	KRAS CL E G H	3845	6407	OMIM:601626	Leukemia, acute myeloid		196
HP:0001881	HP:0001909	Leukemia	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0001881	HP:0001909	Leukemia	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0001881	HP:0011893	Abnormal leukocyte count	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy		279
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency		1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy		286
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0001881	HP:0001909	Leukemia	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0001881	HP:0001909	Leukemia	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome		88
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome		88
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	88
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome		88
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome		88
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease		73
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy		645
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy		11
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy		11
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome		186
HP:0001881	HP:0001909	Leukemia	1	LPP CL E G H	4026	6679	OMIM:601626	Leukemia, acute myeloid		1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0001909	Leukemia	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001881	HP:0011893	Abnormal leukocyte count	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001881	HP:0001909	Leukemia	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	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:0001881	HP:0011893	Abnormal leukocyte 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:0001881	HP:0004332	Abnormal lymphocyte morphology	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0001881	HP:0001909	Leukemia	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0001881	HP:0001909	Leukemia	1	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0001881	HP:0001909	Leukemia	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0001881	HP:0001909	Leukemia	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0001881	HP:0001909	Leukemia	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0001881	HP:0001909	Leukemia	1	MLLT10 CL E G H	8028	16063	OMIM:601626	Leukemia, acute myeloid
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0001881	HP:0001909	Leukemia	1	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia		97
HP:0001881	HP:0001909	Leukemia	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0001881	HP:0001909	Leukemia	1	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		97
HP:0001881	HP:0001909	Leukemia	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis		97
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0001881	HP:0001909	Leukemia	1	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy		1143
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0001881	HP:0001909	Leukemia	1	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic	HP:0040283 - Occasional	9
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic		9
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0001881	HP:0001909	Leukemia	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040281 - Very frequent	9
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy		452
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy		1269
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease		297
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy		217
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001881	HP:0011893	Abnormal leukocyte count	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0001881	HP:0001909	Leukemia	1	NBN CL E G H	4683	7652	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		706
HP:0001881	HP:0001909	Leukemia	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease		13
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I		13
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease		67
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II		67
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease		37
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy		167
HP:0001881	HP:0001909	Leukemia	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare	1952
HP:0001881	HP:0001909	Leukemia	1	NF1 CL E G H	4763	7765	OMIM:607785	Juvenile myelomonocytic leukemia		1952
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040282 - Frequent	11
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome		217
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome		217
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0001881	HP:0001909	Leukemia	1	NPM1 CL E G H	4869	7910	OMIM:601626	Leukemia, acute myeloid		12
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001881	HP:0001909	Leukemia	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0001881	HP:0001909	Leukemia	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0001881	HP:0001909	Leukemia	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0001881	HP:0001909	Leukemia	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0001881	HP:0001909	Leukemia	1	NUMA1 CL E G H	4926	8059	OMIM:612376	Acute promyelocytic leukemia
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0011893	Abnormal leukocyte count	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0001909	Leukemia	1	NUP214 CL E G H	8021	8064	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		1
HP:0001881	HP:0001909	Leukemia	1	NUP214 CL E G H	8021	8064	OMIM:601626	Leukemia, acute myeloid		1
HP:0001881	HP:0001909	Leukemia	1	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent
HP:0001881	HP:0011893	Abnormal leukocyte count	1	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0001881	HP:0011893	Abnormal leukocyte count	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0001881	HP:0001909	Leukemia	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0001881	HP:0001909	Leukemia	1	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0001881	HP:0001909	Leukemia	1	PICALM CL E G H	8301	15514	OMIM:601626	Leukemia, acute myeloid		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0001881	HP:0001909	Leukemia	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome		36
HP:0001881	HP:0001909	Leukemia	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0001881	HP:0001909	Leukemia	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0001881	HP:0001909	Leukemia	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease		563
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy		57
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy		65
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001881	HP:0001909	Leukemia	1	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9	.	23
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy		148
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001881	HP:0001909	Leukemia	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0001881	HP:0001909	Leukemia	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis		51
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy		241
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy		59
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome		948
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome		948
HP:0001881	HP:0001909	Leukemia	1	PTPN11 CL E G H	5781	9644	OMIM:607785	Juvenile myelomonocytic leukemia		291
HP:0001881	HP:0001909	Leukemia	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus		3
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001881	HP:0011893	Abnormal leukocyte count	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RAC2 CL E G H	5880	9802	ORPHA:183707	Neutrophil immunodeficiency syndrome		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RAC2 CL E G H	5880	9802	ORPHA:183707	Neutrophil immunodeficiency syndrome		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy		212
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	127
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome		127
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome		127
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	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:0001881	HP:0011893	Abnormal leukocyte 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:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	50
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome		50
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome		50
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	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:0001881	HP:0011893	Abnormal leukocyte 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:0001881	HP:0001909	Leukemia	1	RARA CL E G H	5914	9864	OMIM:612376	Acute promyelocytic leukemia		2
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001881	HP:0001909	Leukemia	1	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.	365
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy		363
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0001881	HP:0001909	Leukemia	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040284 - Very rare	445
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	37
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome		37
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome		37
HP:0001881	HP:0001909	Leukemia	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0001881	HP:0001909	Leukemia	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0001881	HP:0001909	Leukemia	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0001881	HP:0001909	Leukemia	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0001881	HP:0001909	Leukemia	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0001881	HP:0001909	Leukemia	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0001909	Leukemia	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0001881	HP:0001909	Leukemia	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0001881	HP:0001909	Leukemia	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001909	Leukemia	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001909	Leukemia	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001909	Leukemia	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0001881	HP:0001909	Leukemia	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0001881	HP:0001909	Leukemia	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0001881	HP:0001909	Leukemia	1	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0001881	HP:0001909	Leukemia	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001909	Leukemia	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0001881	HP:0001909	Leukemia	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0001881	HP:0001909	Leukemia	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001909	Leukemia	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0001909	Leukemia	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0001909	Leukemia	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001909	Leukemia	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0001881	HP:0001909	Leukemia	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0001909	Leukemia	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5		77
HP:0001881	HP:0001909	Leukemia	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	181
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis		181
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis		181
HP:0001881	HP:0001909	Leukemia	1	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia		181
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia		181
HP:0001881	HP:0011893	Abnormal leukocyte count	1	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia		181
HP:0001881	HP:0001909	Leukemia	1	RUNX1 CL E G H	861	10471	OMIM:601626	Leukemia, acute myeloid		181
HP:0001881	HP:0001909	Leukemia	1	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy		181
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome		86
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0001881	HP:0001909	Leukemia	1	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0001881	HP:0001909	Leukemia	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001881	HP:0001909	Leukemia	1	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome		4
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome		4
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001881	HP:0001909	Leukemia	1	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7		4
HP:0001881	HP:0001909	Leukemia	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0001881	HP:0001909	Leukemia	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	26
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0001881	HP:0001909	Leukemia	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0001881	HP:0001909	Leukemia	1	SCN10A CL E G H	6336	10582	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional	146
HP:0001881	HP:0001909	Leukemia	1	SCN11A CL E G H	11280	10583	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional	19
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy		1134
HP:0001881	HP:0001909	Leukemia	1	SCN9A CL E G H	6335	10597	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional	318
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy		304
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5		2
HP:0001881	HP:0001909	Leukemia	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0001881	HP:0001909	Leukemia	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0001881	HP:0001909	Leukemia	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy		223
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0001881	HP:0001909	Leukemia	1	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia		4
HP:0001881	HP:0001909	Leukemia	1	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		4
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001881	HP:0001909	Leukemia	1	SH3GL1 CL E G H	6455	10830	OMIM:601626	Leukemia, acute myeloid
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease		78
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease		78
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome		26
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome		26
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG		24
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG		24
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	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:0001881	HP:0011893	Abnormal leukocyte count	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary		101
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary		101
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance		104
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance		104
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0001881	HP:0001909	Leukemia	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis		34
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001881	HP:0001909	Leukemia	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0001881	HP:0001909	Leukemia	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0001881	HP:0001909	Leukemia	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001881	HP:0001909	Leukemia	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001881	HP:0001909	Leukemia	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis		1
HP:0001881	HP:0001909	Leukemia	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0001881	HP:0011893	Abnormal leukocyte count	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0001881	HP:0011893	Abnormal leukocyte count	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0001881	HP:0011893	Abnormal leukocyte count	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0001881	HP:0011893	Abnormal leukocyte count	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0001881	HP:0011893	Abnormal leukocyte count	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0001881	HP:0011893	Abnormal leukocyte count	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus		2
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0011893	Abnormal leukocyte count	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0001881	HP:0011893	Abnormal leukocyte count	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0001881	HP:0011893	Abnormal leukocyte count	1	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0001881	HP:0001909	Leukemia	1	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis		19
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0001881	HP:0011893	Abnormal leukocyte count	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001881	HP:0011893	Abnormal leukocyte count	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0001881	HP:0011893	Abnormal leukocyte count	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001881	HP:0001909	Leukemia	1	TAL1 CL E G H	6886	11556	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1
HP:0001881	HP:0001909	Leukemia	1	TAL2 CL E G H	6887	11557	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis		20
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis		20
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia		16
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy		78
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0001881	HP:0001909	Leukemia	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0001881	HP:0001909	Leukemia	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		48
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		48
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0001881	HP:0001909	Leukemia	1	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	.	48
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		238
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		238
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0001881	HP:0001909	Leukemia	1	TERT CL E G H	7015	11730	OMIM:601626	Leukemia, acute myeloid		238
HP:0001881	HP:0001909	Leukemia	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0001881	HP:0001909	Leukemia	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0001881	HP:0001909	Leukemia	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis		3
HP:0001881	HP:0001909	Leukemia	1	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia		3
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0001881	HP:0001909	Leukemia	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia		3
HP:0001881	HP:0001909	Leukemia	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease		13
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0001881	HP:0001909	Leukemia	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis		6
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis		6
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		60
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		60
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis		3
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis		3
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy		136
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TNFRSF13B CL E G H	23495	18153	OMIM:609529	Immunoglobulin A deficiency 2	.	32
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome		131
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy		73
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy		180
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001881	HP:0001909	Leukemia	1	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia		911
HP:0001881	HP:0001909	Leukemia	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0001881	HP:0001909	Leukemia	1	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome		911
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy		230
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis		2
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis		2
HP:0001881	HP:0001909	Leukemia	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease		31
HP:0001881	HP:0001909	Leukemia	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus		56
HP:0001881	HP:0001909	Leukemia	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0001881	HP:0011893	Abnormal leukocyte 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:0001881	HP:0001909	Leukemia	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome		11
HP:0001881	HP:0011893	Abnormal leukocyte count	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome		11
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy		7128
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy		85
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0001881	HP:0001909	Leukemia	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease		22
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0001881	HP:0011893	Abnormal leukocyte count	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0001881	HP:0011893	Abnormal leukocyte count	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0011893	Abnormal leukocyte count	1	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0001881	HP:0011893	Abnormal leukocyte count	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0001881	HP:0011893	Abnormal leukocyte count	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis		5
HP:0001881	HP:0011893	Abnormal leukocyte count	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis		5
HP:0001881	HP:0011893	Abnormal leukocyte count	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0001881	HP:0011893	Abnormal leukocyte count	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001881	HP:0011893	Abnormal leukocyte count	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0001881	HP:0011893	Abnormal leukocyte count	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0001881	HP:0011893	Abnormal leukocyte count	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0001881	HP:0011893	Abnormal leukocyte count	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0001881	HP:0011893	Abnormal leukocyte count	1	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0011893	Abnormal leukocyte count	1	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0001909	Leukemia	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0011893	Abnormal leukocyte count	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0011893	Abnormal leukocyte count	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0001881	HP:0011893	Abnormal leukocyte count	1	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0011893	Abnormal leukocyte count	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0001909	Leukemia	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0001881	HP:0011893	Abnormal leukocyte count	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0001881	HP:0011893	Abnormal leukocyte count	1	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001881	HP:0011893	Abnormal leukocyte count	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0001881	HP:0011893	Abnormal leukocyte count	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0001881	HP:0001909	Leukemia	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome		9
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0001881	HP:0004332	Abnormal lymphocyte morphology	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001881	HP:0010974	Abnormal myeloid leukocyte morphology	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0011893	Abnormal leukocyte count	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001881	HP:0005526	Lymphoid leukemia	2	CL E G H
HP:0001881	HP:0020178	Abnormal dendritic cell count	2	CL E G H
HP:0001881	HP:0030150	Plasmacytosis	2	CL E G H
HP:0001881	HP:0032372	Increased peripheral blast count	2	CL E G H
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy		254
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	51
HP:0001881	HP:0001974	Leukocytosis	2	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	51
HP:0001881	HP:0005547	Myeloproliferative disorder	2	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia	HP:0040280 - Obligate	51
HP:0001881	HP:0002488	Acute leukemia	2	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid		51
HP:0001881	HP:0005558	Chronic leukemia	2	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid		51
HP:0001881	HP:0001974	Leukocytosis	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent	91
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001881	HP:0002843	Abnormal T cell morphology	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy		208
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy		307
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome		75
HP:0001881	HP:0001974	Leukocytosis	2	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	75
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome		75
HP:0001881	HP:0002843	Abnormal T cell morphology	2	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0001881	HP:0002846	Abnormal B cell morphology	2	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0001881	HP:0001911	Abnormal granulocyte morphology	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:0001881	HP:0001974	Leukocytosis	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:0001881	HP:0002846	Abnormal B cell morphology	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:0001881	HP:0040088	Abnormal lymphocyte 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:0001881	HP:0032309	Abnormal granulocyte 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:0001881	HP:0001882	Leukopenia	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0002488	Acute leukemia	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0001881	HP:0001882	Leukopenia	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0001881	HP:0001974	Leukocytosis	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0001881	HP:0005558	Chronic leukemia	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0001881	HP:0001882	Leukopenia	2	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001881	HP:0002488	Acute leukemia	2	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0001881	HP:0001922	Vacuolated lymphocytes	2	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0001881	HP:0032309	Abnormal granulocyte count	2	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0001881	HP:0001882	Leukopenia	2	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001881	HP:0032309	Abnormal granulocyte count	2	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001881	HP:0001882	Leukopenia	2	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040281 - Very frequent	19
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis		19
HP:0001881	HP:0005547	Myeloproliferative disorder	2	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0001881	HP:0002846	Abnormal B cell morphology	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0001881	HP:0032309	Abnormal granulocyte count	2	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy		95
HP:0001881	HP:0001974	Leukocytosis	2	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2		106
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0002843	Abnormal T cell morphology	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0032309	Abnormal granulocyte count	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0001881	HP:0002488	Acute leukemia	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease		39
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis		39
HP:0001881	HP:0012324	Myeloid leukemia	2	ARHGAP26 CL E G H	23092	17073	OMIM:607785	Juvenile myelomonocytic leukemia		12
HP:0001881	HP:0001882	Leukopenia	2	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	147
HP:0001881	HP:0002846	Abnormal B cell morphology	2	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0001881	HP:0001974	Leukocytosis	2	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis		145
HP:0001881	HP:0001974	Leukocytosis	2	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis		145
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0001974	Leukocytosis	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0001881	HP:0002488	Acute leukemia	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0005547	Myeloproliferative disorder	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0001881	HP:0005558	Chronic leukemia	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0012324	Myeloid leukemia	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040281 - Very frequent	145
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0002488	Acute leukemia	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0001881	HP:0002843	Abnormal T cell morphology	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0001881	HP:0002846	Abnormal B cell morphology	2	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001881	HP:0001882	Leukopenia	2	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0001881	HP:0002843	Abnormal T cell morphology	2	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0001881	HP:0002488	Acute leukemia	2	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome	HP:0040283 - Occasional	169
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001881	HP:0001974	Leukocytosis	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001881	HP:0002846	Abnormal B cell morphology	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0002846	Abnormal B cell morphology	2	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0032309	Abnormal granulocyte count	2	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy		204
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001881	HP:0002488	Acute leukemia	2	BAX CL E G H	581	959	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		4
HP:0001881	HP:0002843	Abnormal T cell morphology	2	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0001881	HP:0001974	Leukocytosis	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0001881	HP:0001974	Leukocytosis	2	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0001881	HP:0032309	Abnormal granulocyte 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:0001881	HP:0001882	Leukopenia	2	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0001881	HP:0001974	Leukocytosis	2	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	101
HP:0001881	HP:0032309	Abnormal granulocyte count	2	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	5
HP:0001881	HP:0001974	Leukocytosis	2	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	5
HP:0001881	HP:0005547	Myeloproliferative disorder	2	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia	HP:0040280 - Obligate	5
HP:0001881	HP:0002488	Acute leukemia	2	BCR CL E G H	613	1014	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		5
HP:0001881	HP:0002488	Acute leukemia	2	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid		5
HP:0001881	HP:0005558	Chronic leukemia	2	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid		5
HP:0001881	HP:0002488	Acute leukemia	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0001881	HP:0002843	Abnormal T cell morphology	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0001881	HP:0032309	Abnormal granulocyte count	2	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0001881	HP:0032309	Abnormal granulocyte count	2	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0001881	HP:0001882	Leukopenia	2	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9	.	35
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001881	HP:0001974	Leukocytosis	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001881	HP:0032309	Abnormal granulocyte count	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001881	HP:0012324	Myeloid leukemia	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0001881	HP:0001882	Leukopenia	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	5769
HP:0001881	HP:0001882	Leukopenia	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	7642
HP:0001881	HP:0002488	Acute leukemia	2	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0001881	HP:0001882	Leukopenia	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1086
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001881	HP:0002846	Abnormal B cell morphology	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001881	HP:0032309	Abnormal granulocyte count	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001881	HP:0002846	Abnormal B cell morphology	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0001881	HP:0032309	Abnormal granulocyte count	2	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0001881	HP:0001882	Leukopenia	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001881	HP:0001974	Leukocytosis	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001881	HP:0002843	Abnormal T cell morphology	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001881	HP:0002488	Acute leukemia	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0001881	HP:0002488	Acute leukemia	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0001881	HP:0002488	Acute leukemia	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001881	HP:0001882	Leukopenia	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0001881	HP:0002488	Acute leukemia	2	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	1
HP:0001881	HP:0005547	Myeloproliferative disorder	2	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		1
HP:0001881	HP:0001974	Leukocytosis	2	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0001881	HP:0001974	Leukocytosis	2	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0001881	HP:0001974	Leukocytosis	2	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0001881	HP:0002846	Abnormal B cell morphology	2	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0001881	HP:0002843	Abnormal T cell morphology	2	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0001881	HP:0012310	Abnormal monocyte count	2	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis		45
HP:0001881	HP:0001974	Leukocytosis	2	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis		45
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis		45
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001881	HP:0001974	Leukocytosis	2	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0001974	Leukocytosis	2	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.	118
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0001974	Leukocytosis	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0002843	Abnormal T cell morphology	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0002846	Abnormal B cell morphology	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0001974	Leukocytosis	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0002843	Abnormal T cell morphology	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0002846	Abnormal B cell morphology	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0002843	Abnormal T cell morphology	2	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0001881	HP:0001974	Leukocytosis	2	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	272
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis		317
HP:0001881	HP:0001974	Leukocytosis	2	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis		317
HP:0001881	HP:0012324	Myeloid leukemia	2	CBL CL E G H	867	1541	OMIM:607785	Juvenile myelomonocytic leukemia		317
HP:0001881	HP:0012324	Myeloid leukemia	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0001881	HP:0002846	Abnormal B cell morphology	2	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0001974	Leukocytosis	2	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0002843	Abnormal T cell morphology	2	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0001881	HP:0001974	Leukocytosis	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0001881	HP:0002843	Abnormal T cell morphology	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19		18
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0001881	HP:0001974	Leukocytosis	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0001881	HP:0002843	Abnormal T cell morphology	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0001881	HP:0002843	Abnormal T cell morphology	2	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0001881	HP:0001974	Leukocytosis	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0001881	HP:0002843	Abnormal T cell morphology	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0001881	HP:0002843	Abnormal T cell morphology	2	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	.	19
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0001881	HP:0002843	Abnormal T cell morphology	2	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0001881	HP:0002843	Abnormal T cell morphology	2	CD4 CL E G H	920	1678	OMIM:613949	Okt4 epitope deficiency	.	1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0001881	HP:0002846	Abnormal B cell morphology	2	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0001881	HP:0002843	Abnormal T cell morphology	2	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001881	HP:0001974	Leukocytosis	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001881	HP:0002488	Acute leukemia	2	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0001881	HP:0001974	Leukocytosis	2	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0001881	HP:0002488	Acute leukemia	2	CEBPA CL E G H	1050	1833	OMIM:601626	Leukemia, acute myeloid		65
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency		3
HP:0001881	HP:0002488	Acute leukemia	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0001881	HP:0001974	Leukocytosis	2	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	1371
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome		515
HP:0001881	HP:0001974	Leukocytosis	2	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	515
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome		515
HP:0001881	HP:0002488	Acute leukemia	2	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0001881	HP:0002488	Acute leukemia	2	CHIC2 CL E G H	26511	1935	OMIM:601626	Leukemia, acute myeloid
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001881	HP:0002843	Abnormal T cell morphology	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001881	HP:0001922	Vacuolated lymphocytes	2	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.	216
HP:0001881	HP:0001922	Vacuolated lymphocytes	2	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0001881	HP:0001882	Leukopenia	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0001974	Leukocytosis	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0002488	Acute leukemia	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0012310	Abnormal monocyte count	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0001881	HP:0032309	Abnormal granulocyte count	2	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8		7
HP:0001881	HP:0001974	Leukocytosis	2	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	5
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy		46
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CSF3R CL E G H	1441	2439	OMIM:617014	Neutropenia, severe congenital, 7, autosomal recessive		34
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CSF3R CL E G H	1441	2439	OMIM:617014	Neutropenia, severe congenital, 7, autosomal recessive		34
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary		34
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary		34
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy		104
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0001881	HP:0001882	Leukopenia	2	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus	.	10
HP:0001881	HP:0002843	Abnormal T cell morphology	2	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001881	HP:0002846	Abnormal B cell morphology	2	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001881	HP:0002843	Abnormal T cell morphology	2	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0001881	HP:0002846	Abnormal B cell morphology	2	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0001881	HP:0001974	Leukocytosis	2	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	39
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0001881	HP:0032309	Abnormal granulocyte count	2	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease		27
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease		111
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV		2
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0001881	HP:0001974	Leukocytosis	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0001881	HP:0001974	Leukocytosis	2	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0001881	HP:0002846	Abnormal B cell morphology	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0001881	HP:0032309	Abnormal granulocyte count	2	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0032309	Abnormal granulocyte count	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0001881	HP:0002843	Abnormal T cell morphology	2	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0001974	Leukocytosis	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0002843	Abnormal T cell morphology	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0002846	Abnormal B cell morphology	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0032309	Abnormal granulocyte count	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0001882	Leukopenia	2	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0001881	HP:0002488	Acute leukemia	2	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0001881	HP:0012310	Abnormal monocyte count	2	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0001881	HP:0002843	Abnormal T cell morphology	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy		263
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0001881	HP:0001882	Leukopenia	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0001881	HP:0002488	Acute leukemia	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0001881	HP:0001882	Leukopenia	2	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	9
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy		1496
HP:0001881	HP:0002488	Acute leukemia	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3		5
HP:0001881	HP:0001882	Leukopenia	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	5
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0001881	HP:0002488	Acute leukemia	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0001881	HP:0032309	Abnormal granulocyte count	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0001881	HP:0002488	Acute leukemia	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0001881	HP:0032309	Abnormal granulocyte count	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0001881	HP:0001882	Leukopenia	2	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus	.	3
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0001881	HP:0002488	Acute leukemia	2	DNMT3A CL E G H	1788	2978	OMIM:601626	Leukemia, acute myeloid		44
HP:0001881	HP:0012324	Myeloid leukemia	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare	44
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0001881	HP:0002843	Abnormal T cell morphology	2	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0001881	HP:0002843	Abnormal T cell morphology	2	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0001881	HP:0001882	Leukopenia	2	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	18
HP:0001881	HP:0002843	Abnormal T cell morphology	2	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0001881	HP:0002846	Abnormal B cell morphology	2	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0001974	Leukocytosis	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0002843	Abnormal T cell morphology	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0032309	Abnormal granulocyte count	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy		55
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy		358
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy		747
HP:0001881	HP:0002488	Acute leukemia	2	DUT CL E G H	1854	3078	OMIM:620044
HP:0001881	HP:0002488	Acute leukemia	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	7
HP:0001881	HP:0001882	Leukopenia	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0001881	HP:0002488	Acute leukemia	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0001881	HP:0001974	Leukocytosis	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0001881	HP:0032309	Abnormal granulocyte count	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0001974	Leukocytosis	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0002488	Acute leukemia	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0012310	Abnormal monocyte count	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia		79
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia		79
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0001974	Leukocytosis	2	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0002488	Acute leukemia	2	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0012310	Abnormal monocyte count	2	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0001974	Leukocytosis	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001881	HP:0002846	Abnormal B cell morphology	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001881	HP:0001882	Leukopenia	2	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	4
HP:0001881	HP:0001882	Leukopenia	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0002843	Abnormal T cell morphology	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0032309	Abnormal granulocyte count	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0002488	Acute leukemia	2	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to		12
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0001881	HP:0001882	Leukopenia	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	158
HP:0001881	HP:0001882	Leukopenia	2	ERCC6L2 CL E G H	375748	26922	OMIM:615715	Bone marrow failure syndrome 2	.	4
HP:0001881	HP:0002488	Acute leukemia	2	ETV6 CL E G H	2120	3495	OMIM:601626	Leukemia, acute myeloid		13
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0001881	HP:0002488	Acute leukemia	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	209
HP:0001881	HP:0002488	Acute leukemia	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	137
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0001881	HP:0001974	Leukocytosis	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0001974	Leukocytosis	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0002843	Abnormal T cell morphology	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0012324	Myeloid leukemia	2	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040284 - Very rare	60
HP:0001881	HP:0012324	Myeloid leukemia	2	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040284 - Very rare	32
HP:0001881	HP:0001882	Leukopenia	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	340
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0001881	HP:0001882	Leukopenia	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	58
HP:0001881	HP:0001882	Leukopenia	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	410
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0001881	HP:0001882	Leukopenia	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	147
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0001881	HP:0001882	Leukopenia	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	73
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0001881	HP:0001882	Leukopenia	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	87
HP:0001881	HP:0001882	Leukopenia	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0001881	HP:0001882	Leukopenia	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	73
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0001881	HP:0001882	Leukopenia	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	157
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0001881	HP:0001882	Leukopenia	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	53
HP:0001881	HP:0001882	Leukopenia	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	107
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001974	Leukocytosis	2	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001974	Leukocytosis	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0002843	Abnormal T cell morphology	2	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0002843	Abnormal T cell morphology	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0002846	Abnormal B cell morphology	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0001974	Leukocytosis	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0001974	Leukocytosis	2	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0002843	Abnormal T cell morphology	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0002843	Abnormal T cell morphology	2	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0002846	Abnormal B cell morphology	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0001881	HP:0001882	Leukopenia	2	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus	.	6
HP:0001881	HP:0001882	Leukopenia	2	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus	.	2
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0001881	HP:0002843	Abnormal T cell morphology	2	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0001881	HP:0002846	Abnormal B cell morphology	2	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0001881	HP:0001974	Leukocytosis	2	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy		36
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0001881	HP:0001882	Leukopenia	2	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0001974	Leukocytosis	2	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy		184
HP:0001881	HP:0002488	Acute leukemia	2	FLT3 CL E G H	2322	3765	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		61
HP:0001881	HP:0002488	Acute leukemia	2	FLT3 CL E G H	2322	3765	OMIM:601626	Leukemia, acute myeloid		61
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0002846	Abnormal B cell morphology	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0001882	Leukopenia	2	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001881	HP:0001974	Leukocytosis	2	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001881	HP:0002843	Abnormal T cell morphology	2	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0001881	HP:0002843	Abnormal T cell morphology	2	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0001881	HP:0002843	Abnormal T cell morphology	2	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0001881	HP:0040088	Abnormal lymphocyte 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:0001881	HP:0001911	Abnormal granulocyte morphology	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0001881	HP:0002843	Abnormal T cell morphology	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0001974	Leukocytosis	2	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency		65
HP:0001881	HP:0001922	Vacuolated lymphocytes	2	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1		3
HP:0001881	HP:0001882	Leukopenia	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0001881	HP:0012310	Abnormal monocyte count	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0001881	HP:0032309	Abnormal granulocyte count	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0001881	HP:0001974	Leukocytosis	2	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.	101
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities		29
HP:0001881	HP:0032309	Abnormal granulocyte count	2	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities		29
HP:0001881	HP:0001882	Leukopenia	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0001881	HP:0002488	Acute leukemia	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0001881	HP:0032309	Abnormal granulocyte count	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0001881	HP:0001882	Leukopenia	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	29
HP:0001881	HP:0002488	Acute leukemia	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0001881	HP:0005547	Myeloproliferative disorder	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome		137
HP:0001881	HP:0001974	Leukocytosis	2	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040283 - Occasional	137
HP:0001881	HP:0002488	Acute leukemia	2	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent	137
HP:0001881	HP:0005547	Myeloproliferative disorder	2	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040283 - Occasional	137
HP:0001881	HP:0032309	Abnormal granulocyte count	2	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome		137
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0001881	HP:0012310	Abnormal monocyte count	2	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0001881	HP:0012324	Myeloid leukemia	2	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0001881	HP:0032309	Abnormal granulocyte count	2	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0001881	HP:0002488	Acute leukemia	2	GATA2 CL E G H	2624	4171	OMIM:601626	Leukemia, acute myeloid		137
HP:0001881	HP:0002488	Acute leukemia	2	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0001881	HP:0002843	Abnormal T cell morphology	2	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0001881	HP:0001974	Leukocytosis	2	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome	HP:0040283 - Occasional	137
HP:0001881	HP:0002488	Acute leukemia	2	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome		137
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy		35
HP:0001881	HP:0001882	Leukopenia	2	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0001974	Leukocytosis	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0002488	Acute leukemia	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0012310	Abnormal monocyte count	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0032309	Abnormal granulocyte count	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0001881	HP:0002488	Acute leukemia	2	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0001881	HP:0032309	Abnormal granulocyte count	2	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001881	HP:0002846	Abnormal B cell morphology	2	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001881	HP:0012310	Abnormal monocyte count	2	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001881	HP:0032309	Abnormal granulocyte count	2	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001881	HP:0032309	Abnormal granulocyte count	2	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001881	HP:0001922	Vacuolated lymphocytes	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0001881	HP:0002488	Acute leukemia	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	1
HP:0001881	HP:0002488	Acute leukemia	2	GNB1 CL E G H	2782	4396	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		12
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency		12
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0001881	HP:0032309	Abnormal granulocyte count	2	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0001881	HP:0032309	Abnormal granulocyte count	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy		2
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0001881	HP:0002488	Acute leukemia	2	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0001881	HP:0032309	Abnormal granulocyte count	2	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0001881	HP:0001974	Leukocytosis	2	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional	580
HP:0001881	HP:0001974	Leukocytosis	2	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040282 - Frequent	580
HP:0001881	HP:0001974	Leukocytosis	2	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.	580
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0001881	HP:0002843	Abnormal T cell morphology	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0001881	HP:0001882	Leukopenia	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	2
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001881	HP:0001974	Leukocytosis	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001881	HP:0002843	Abnormal T cell morphology	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001881	HP:0032309	Abnormal granulocyte count	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001881	HP:0001882	Leukopenia	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional	35
HP:0001881	HP:0001974	Leukocytosis	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional	35
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001881	HP:0032309	Abnormal granulocyte count	2	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0001881	HP:0032309	Abnormal granulocyte count	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0001881	HP:0002846	Abnormal B cell morphology	2	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0002846	Abnormal B cell morphology	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0002488	Acute leukemia	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001881	HP:0012324	Myeloid leukemia	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001881	HP:0005558	Chronic leukemia	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0001881	HP:0001974	Leukocytosis	2	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69		23
HP:0001881	HP:0001974	Leukocytosis	2	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0001881	HP:0002846	Abnormal B cell morphology	2	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0001881	HP:0002846	Abnormal B cell morphology	2	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0002843	Abnormal T cell morphology	2	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0002846	Abnormal B cell morphology	2	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001881	HP:0002846	Abnormal B cell morphology	2	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0001881	HP:0001974	Leukocytosis	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0001881	HP:0001974	Leukocytosis	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0001881	HP:0002488	Acute leukemia	2	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0001881	HP:0002846	Abnormal B cell morphology	2	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0001881	HP:0002846	Abnormal B cell morphology	2	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0001881	HP:0002846	Abnormal B cell morphology	2	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0001881	HP:0002843	Abnormal T cell morphology	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001881	HP:0002846	Abnormal B cell morphology	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001881	HP:0002843	Abnormal T cell morphology	2	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001881	HP:0002843	Abnormal T cell morphology	2	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome		48
HP:0001881	HP:0001974	Leukocytosis	2	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	48
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome		48
HP:0001881	HP:0002843	Abnormal T cell morphology	2	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0001881	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	2	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0001881	HP:0002843	Abnormal T cell morphology	2	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0001881	HP:0001974	Leukocytosis	2	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0001881	HP:0001974	Leukocytosis	2	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0001881	HP:0002846	Abnormal B cell morphology	2	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0001881	HP:0001974	Leukocytosis	2	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0001881	HP:0002843	Abnormal T cell morphology	2	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0001974	Leukocytosis	2	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0002843	Abnormal T cell morphology	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:0001881	HP:0040088	Abnormal lymphocyte 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:0001881	HP:0001911	Abnormal granulocyte morphology	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0001974	Leukocytosis	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0002843	Abnormal T cell morphology	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001881	HP:0001974	Leukocytosis	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001881	HP:0001882	Leukopenia	2	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IRAK4 CL E G H	51135	17967	ORPHA:70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency		58
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IRAK4 CL E G H	51135	17967	ORPHA:70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency		58
HP:0001881	HP:0001882	Leukopenia	2	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0001974	Leukocytosis	2	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0001881	HP:0002846	Abnormal B cell morphology	2	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0001974	Leukocytosis	2	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0012310	Abnormal monocyte count	2	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0032309	Abnormal granulocyte count	2	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0001882	Leukopenia	2	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0001881	HP:0001974	Leukocytosis	2	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0001881	HP:0001882	Leukopenia	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001881	HP:0002843	Abnormal T cell morphology	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001881	HP:0001882	Leukopenia	2	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.	105
HP:0001881	HP:0002843	Abnormal T cell morphology	2	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001881	HP:0002846	Abnormal B cell morphology	2	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive		8
HP:0001881	HP:0032309	Abnormal granulocyte count	2	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive		8
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0001881	HP:0001974	Leukocytosis	2	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0001881	HP:0032309	Abnormal granulocyte count	2	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0001881	HP:0002488	Acute leukemia	2	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	57
HP:0001881	HP:0002488	Acute leukemia	2	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0001881	HP:0005558	Chronic leukemia	2	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0001881	HP:0002488	Acute leukemia	2	JAK2 CL E G H	3717	6192	OMIM:601626	Leukemia, acute myeloid		57
HP:0001881	HP:0005547	Myeloproliferative disorder	2	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		57
HP:0001881	HP:0001974	Leukocytosis	2	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0001881	HP:0002488	Acute leukemia	2	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	57
HP:0001881	HP:0001974	Leukocytosis	2	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0001881	HP:0002843	Abnormal T cell morphology	2	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0001881	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	2	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0001881	HP:0002843	Abnormal T cell morphology	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0001881	HP:0002846	Abnormal B cell morphology	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0001881	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040281 - Very frequent	140
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis		327
HP:0001881	HP:0002488	Acute leukemia	2	KIT CL E G H	3815	6342	OMIM:601626	Leukemia, acute myeloid		327
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous		327
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	KIT CL E G H	3815	6342	ORPHA:280794	Pseudoxanthomatous diffuse cutaneous mastocytosis		327
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0001974	Leukocytosis	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0001881	HP:0002488	Acute leukemia	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0005547	Myeloproliferative disorder	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0001881	HP:0005558	Chronic leukemia	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0012324	Myeloid leukemia	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040281 - Very frequent	327
HP:0001881	HP:0032309	Abnormal granulocyte count	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	2	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin	.	1
HP:0001881	HP:0002843	Abnormal T cell morphology	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001881	HP:0002846	Abnormal B cell morphology	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001881	HP:0002488	Acute leukemia	2	KRAS CL E G H	3845	6407	OMIM:601626	Leukemia, acute myeloid		196
HP:0001881	HP:0012324	Myeloid leukemia	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0001881	HP:0001974	Leukocytosis	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0001881	HP:0012310	Abnormal monocyte count	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0001881	HP:0032309	Abnormal granulocyte count	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0001881	HP:0001974	Leukocytosis	2	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy		279
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency		1
HP:0001881	HP:0002843	Abnormal T cell morphology	2	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001881	HP:0032309	Abnormal granulocyte count	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001881	HP:0002843	Abnormal T cell morphology	2	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0002843	Abnormal T cell morphology	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0002846	Abnormal B cell morphology	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy		286
HP:0001881	HP:0002843	Abnormal T cell morphology	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0001881	HP:0002843	Abnormal T cell morphology	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0001881	HP:0002843	Abnormal T cell morphology	2	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0001881	HP:0002488	Acute leukemia	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0001881	HP:0001974	Leukocytosis	2	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	88
HP:0001881	HP:0002488	Acute leukemia	2	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	88
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome		88
HP:0001881	HP:0001974	Leukocytosis	2	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	88
HP:0001881	HP:0032309	Abnormal granulocyte count	2	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome		88
HP:0001881	HP:0001882	Leukopenia	2	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease		73
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0001881	HP:0032309	Abnormal granulocyte count	2	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0001881	HP:0032309	Abnormal granulocyte count	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy		645
HP:0001881	HP:0001974	Leukocytosis	2	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy		11
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy		11
HP:0001881	HP:0001974	Leukocytosis	2	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040282 - Frequent	186
HP:0001881	HP:0002488	Acute leukemia	2	LPP CL E G H	4026	6679	OMIM:601626	Leukemia, acute myeloid		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0002846	Abnormal B cell morphology	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0032309	Abnormal granulocyte count	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0005558	Chronic leukemia	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0001881	HP:0001922	Vacuolated lymphocytes	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040281 - Very frequent	239
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent	239
HP:0001881	HP:0032309	Abnormal granulocyte count	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0001881	HP:0001882	Leukopenia	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.	239
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001881	HP:0032309	Abnormal granulocyte count	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001881	HP:0001882	Leukopenia	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0001881	HP:0002843	Abnormal T cell morphology	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:0001881	HP:0040088	Abnormal lymphocyte 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:0001881	HP:0001922	Vacuolated lymphocytes	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0001881	HP:0012324	Myeloid leukemia	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0001881	HP:0002488	Acute leukemia	2	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0001881	HP:0002843	Abnormal T cell morphology	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001881	HP:0002846	Abnormal B cell morphology	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001881	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0001881	HP:0002488	Acute leukemia	2	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0001881	HP:0032309	Abnormal granulocyte count	2	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0001881	HP:0001974	Leukocytosis	2	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0001881	HP:0032309	Abnormal granulocyte count	2	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0001881	HP:0001974	Leukocytosis	2	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040282 - Frequent	281
HP:0001881	HP:0002488	Acute leukemia	2	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0001881	HP:0005558	Chronic leukemia	2	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0001881	HP:0032309	Abnormal granulocyte count	2	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0001881	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0001881	HP:0001974	Leukocytosis	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0001881	HP:0002488	Acute leukemia	2	MLLT10 CL E G H	8028	16063	OMIM:601626	Leukemia, acute myeloid
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0001881	HP:0032309	Abnormal granulocyte count	2	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0001881	HP:0032309	Abnormal granulocyte count	2	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0001881	HP:0032309	Abnormal granulocyte count	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0001881	HP:0032309	Abnormal granulocyte count	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0001881	HP:0001882	Leukopenia	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001881	HP:0032309	Abnormal granulocyte count	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0001881	HP:0032309	Abnormal granulocyte count	2	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0001881	HP:0032309	Abnormal granulocyte count	2	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0001881	HP:0002488	Acute leukemia	2	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	97
HP:0001881	HP:0002488	Acute leukemia	2	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0001881	HP:0005558	Chronic leukemia	2	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0001881	HP:0005547	Myeloproliferative disorder	2	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		97
HP:0001881	HP:0002488	Acute leukemia	2	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	97
HP:0001881	HP:0001974	Leukocytosis	2	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0001881	HP:0032309	Abnormal granulocyte count	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0001881	HP:0002488	Acute leukemia	2	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0001881	HP:0032309	Abnormal granulocyte count	2	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0001881	HP:0032309	Abnormal granulocyte count	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0001881	HP:0001974	Leukocytosis	2	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0001881	HP:0032309	Abnormal granulocyte count	2	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0001881	HP:0001974	Leukocytosis	2	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy		1143
HP:0001881	HP:0002843	Abnormal T cell morphology	2	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0001881	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	2	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic	.	9
HP:0001881	HP:0002846	Abnormal B cell morphology	2	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy		452
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy		1269
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease		297
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy		217
HP:0001881	HP:0001882	Leukopenia	2	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	.
HP:0001881	HP:0001882	Leukopenia	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:0001881	HP:0001911	Abnormal granulocyte morphology	2	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001881	HP:0002846	Abnormal B cell morphology	2	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001881	HP:0032309	Abnormal granulocyte count	2	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001881	HP:0001882	Leukopenia	2	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0001974	Leukocytosis	2	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0001881	HP:0032309	Abnormal granulocyte count	2	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0001881	HP:0002488	Acute leukemia	2	NBN CL E G H	4683	7652	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		706
HP:0001881	HP:0002488	Acute leukemia	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional	706
HP:0001881	HP:0002843	Abnormal T cell morphology	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0001881	HP:0002846	Abnormal B cell morphology	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease		13
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I		13
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I		13
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease		67
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II		67
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II		67
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease		37
HP:0001881	HP:0001974	Leukocytosis	2	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001881	HP:0002843	Abnormal T cell morphology	2	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001881	HP:0002846	Abnormal B cell morphology	2	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0001881	HP:0001922	Vacuolated lymphocytes	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy		167
HP:0001881	HP:0012324	Myeloid leukemia	2	NF1 CL E G H	4763	7765	OMIM:607785	Juvenile myelomonocytic leukemia		1952
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0001881	HP:0002846	Abnormal B cell morphology	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0001881	HP:0002843	Abnormal T cell morphology	2	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0001881	HP:0002846	Abnormal B cell morphology	2	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0001881	HP:0001974	Leukocytosis	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001881	HP:0001974	Leukocytosis	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001881	HP:0032309	Abnormal granulocyte count	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001881	HP:0001974	Leukocytosis	2	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent	217
HP:0001881	HP:0001974	Leukocytosis	2	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent	217
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001881	HP:0001974	Leukocytosis	2	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001881	HP:0032309	Abnormal granulocyte count	2	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001881	HP:0001974	Leukocytosis	2	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0001881	HP:0001974	Leukocytosis	2	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0001881	HP:0001882	Leukopenia	2	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	452
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0001881	HP:0001882	Leukopenia	2	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0001974	Leukocytosis	2	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0001881	HP:0032309	Abnormal granulocyte count	2	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0001881	HP:0002488	Acute leukemia	2	NPM1 CL E G H	4869	7910	OMIM:601626	Leukemia, acute myeloid		12
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001881	HP:0001974	Leukocytosis	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001881	HP:0032309	Abnormal granulocyte count	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001881	HP:0012324	Myeloid leukemia	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0001881	HP:0001974	Leukocytosis	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0001881	HP:0012310	Abnormal monocyte count	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0001881	HP:0032309	Abnormal granulocyte count	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0001881	HP:0002488	Acute leukemia	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0001881	HP:0002843	Abnormal T cell morphology	2	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0001881	HP:0002488	Acute leukemia	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0001881	HP:0001882	Leukopenia	2	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0001974	Leukocytosis	2	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0001881	HP:0002488	Acute leukemia	2	NUMA1 CL E G H	4926	8059	OMIM:612376	Acute promyelocytic leukemia
HP:0001881	HP:0032309	Abnormal granulocyte count	2	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0002488	Acute leukemia	2	NUP214 CL E G H	8021	8064	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		1
HP:0001881	HP:0002488	Acute leukemia	2	NUP214 CL E G H	8021	8064	OMIM:601626	Leukemia, acute myeloid		1
HP:0001881	HP:0001974	Leukocytosis	2	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0001881	HP:0001974	Leukocytosis	2	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0001881	HP:0001882	Leukopenia	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0001974	Leukocytosis	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0002843	Abnormal T cell morphology	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0001881	HP:0001882	Leukopenia	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1349
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0001881	HP:0001974	Leukocytosis	2	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0001881	HP:0005547	Myeloproliferative disorder	2	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0001881	HP:0001974	Leukocytosis	2	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0001881	HP:0005547	Myeloproliferative disorder	2	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia	.	28
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0001974	Leukocytosis	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0001882	Leukopenia	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0001974	Leukocytosis	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0002843	Abnormal T cell morphology	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0001881	HP:0002488	Acute leukemia	2	PICALM CL E G H	8301	15514	OMIM:601626	Leukemia, acute myeloid		3
HP:0001881	HP:0001882	Leukopenia	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0001881	HP:0002488	Acute leukemia	2	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040283 - Occasional	36
HP:0001881	HP:0002488	Acute leukemia	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0001881	HP:0002843	Abnormal T cell morphology	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001881	HP:0002846	Abnormal B cell morphology	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001881	HP:0002843	Abnormal T cell morphology	2	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001881	HP:0002846	Abnormal B cell morphology	2	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0001974	Leukocytosis	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0002846	Abnormal B cell morphology	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0012310	Abnormal monocyte count	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0001974	Leukocytosis	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0002843	Abnormal T cell morphology	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0012310	Abnormal monocyte count	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0001881	HP:0002843	Abnormal T cell morphology	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0002846	Abnormal B cell morphology	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0005558	Chronic leukemia	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0001974	Leukocytosis	2	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional	563
HP:0001881	HP:0002846	Abnormal B cell morphology	2	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy		57
HP:0001881	HP:0001882	Leukopenia	2	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0001881	HP:0001974	Leukocytosis	2	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0002843	Abnormal T cell morphology	2	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040281 - Very frequent	52
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0001922	Vacuolated lymphocytes	2	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040281 - Very frequent	65
HP:0001881	HP:0002843	Abnormal T cell morphology	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001881	HP:0002846	Abnormal B cell morphology	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy		148
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0001881	HP:0001882	Leukopenia	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	.	58
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0001881	HP:0002846	Abnormal B cell morphology	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001881	HP:0002488	Acute leukemia	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0001881	HP:0002488	Acute leukemia	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0001881	HP:0001882	Leukopenia	2	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0001881	HP:0001974	Leukocytosis	2	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	134
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0001974	Leukocytosis	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0002843	Abnormal T cell morphology	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0002846	Abnormal B cell morphology	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0032309	Abnormal granulocyte count	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0001974	Leukocytosis	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001881	HP:0002846	Abnormal B cell morphology	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0001881	HP:0001974	Leukocytosis	2	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	51
HP:0001881	HP:0001974	Leukocytosis	2	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	1
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy		241
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy		59
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome		948
HP:0001881	HP:0012324	Myeloid leukemia	2	PTPN11 CL E G H	5781	9644	OMIM:607785	Juvenile myelomonocytic leukemia		291
HP:0001881	HP:0012324	Myeloid leukemia	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0001881	HP:0001882	Leukopenia	2	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus	.	3
HP:0001881	HP:0001974	Leukocytosis	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001881	HP:0002843	Abnormal T cell morphology	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001881	HP:0002846	Abnormal B cell morphology	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001881	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0001881	HP:0001882	Leukopenia	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0002843	Abnormal T cell morphology	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0002846	Abnormal B cell morphology	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0012310	Abnormal monocyte count	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0002843	Abnormal T cell morphology	2	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0001881	HP:0002846	Abnormal B cell morphology	2	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RAC2 CL E G H	5880	9802	ORPHA:183707	Neutrophil immunodeficiency syndrome		9
HP:0001881	HP:0001974	Leukocytosis	2	RAC2 CL E G H	5880	9802	ORPHA:183707	Neutrophil immunodeficiency syndrome	HP:0040281 - Very frequent	9
HP:0001881	HP:0001974	Leukocytosis	2	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0002843	Abnormal T cell morphology	2	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0001882	Leukopenia	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	9
HP:0001881	HP:0001882	Leukopenia	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	391
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy		212
HP:0001881	HP:0002843	Abnormal T cell morphology	2	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0001881	HP:0002846	Abnormal B cell morphology	2	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0002843	Abnormal T cell morphology	2	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0002846	Abnormal B cell morphology	2	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome		127
HP:0001881	HP:0001974	Leukocytosis	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0001881	HP:0001974	Leukocytosis	2	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	127
HP:0001881	HP:0002846	Abnormal B cell morphology	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome		127
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0001881	HP:0001974	Leukocytosis	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0001881	HP:0002843	Abnormal T cell morphology	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0001881	HP:0002846	Abnormal B cell morphology	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0001881	HP:0002843	Abnormal T cell morphology	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:0001881	HP:0002846	Abnormal B cell morphology	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:0001881	HP:0040088	Abnormal lymphocyte 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:0001881	HP:0002843	Abnormal T cell morphology	2	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0001881	HP:0002846	Abnormal B cell morphology	2	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome		50
HP:0001881	HP:0001974	Leukocytosis	2	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	50
HP:0001881	HP:0001974	Leukocytosis	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0001881	HP:0002846	Abnormal B cell morphology	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome		50
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0001881	HP:0001974	Leukocytosis	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0001881	HP:0002843	Abnormal T cell morphology	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0001881	HP:0002846	Abnormal B cell morphology	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0001881	HP:0002843	Abnormal T cell morphology	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:0001881	HP:0002846	Abnormal B cell morphology	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:0001881	HP:0040088	Abnormal lymphocyte 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:0001881	HP:0001882	Leukopenia	2	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0001881	HP:0001974	Leukocytosis	2	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	2
HP:0001881	HP:0002488	Acute leukemia	2	RARA CL E G H	5914	9864	OMIM:612376	Acute promyelocytic leukemia		2
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0001974	Leukocytosis	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0002843	Abnormal T cell morphology	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0002846	Abnormal B cell morphology	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0002843	Abnormal T cell morphology	2	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001881	HP:0002846	Abnormal B cell morphology	2	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001881	HP:0001974	Leukocytosis	2	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy		363
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001881	HP:0001974	Leukocytosis	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001881	HP:0001882	Leukopenia	2	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0001881	HP:0001974	Leukocytosis	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001881	HP:0002846	Abnormal B cell morphology	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001881	HP:0001882	Leukopenia	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0001881	HP:0002843	Abnormal T cell morphology	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0001881	HP:0002843	Abnormal T cell morphology	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0001881	HP:0002843	Abnormal T cell morphology	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0001881	HP:0002843	Abnormal T cell morphology	2	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001881	HP:0002846	Abnormal B cell morphology	2	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0001881	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome		37
HP:0001881	HP:0001974	Leukocytosis	2	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	37
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome		37
HP:0001881	HP:0005558	Chronic leukemia	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0001881	HP:0005558	Chronic leukemia	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0001881	HP:0001974	Leukocytosis	2	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0001881	HP:0005558	Chronic leukemia	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0001881	HP:0001974	Leukocytosis	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0001881	HP:0001974	Leukocytosis	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0001881	HP:0005558	Chronic leukemia	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0001881	HP:0002843	Abnormal T cell morphology	2	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0001881	HP:0001882	Leukopenia	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0002488	Acute leukemia	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0001881	HP:0001882	Leukopenia	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0002488	Acute leukemia	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0001882	Leukopenia	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0002488	Acute leukemia	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0001881	HP:0001882	Leukopenia	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0002488	Acute leukemia	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0001881	HP:0001882	Leukopenia	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0002488	Acute leukemia	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001882	Leukopenia	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0002488	Acute leukemia	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001882	Leukopenia	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0002488	Acute leukemia	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001882	Leukopenia	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0001881	HP:0002488	Acute leukemia	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0001881	HP:0001882	Leukopenia	2	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0001881	HP:0001882	Leukopenia	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0001881	HP:0002488	Acute leukemia	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0001881	HP:0001882	Leukopenia	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0001881	HP:0002488	Acute leukemia	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0001881	HP:0001882	Leukopenia	2	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040283 - Occasional
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0001881	HP:0002488	Acute leukemia	2	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0001881	HP:0001882	Leukopenia	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0002488	Acute leukemia	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001882	Leukopenia	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0001881	HP:0002488	Acute leukemia	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0001881	HP:0001882	Leukopenia	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0001881	HP:0002488	Acute leukemia	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0001881	HP:0001882	Leukopenia	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0002488	Acute leukemia	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001882	Leukopenia	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0002488	Acute leukemia	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0001882	Leukopenia	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0002488	Acute leukemia	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0001882	Leukopenia	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0002488	Acute leukemia	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001882	Leukopenia	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0002488	Acute leukemia	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0001881	HP:0001882	Leukopenia	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0002488	Acute leukemia	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0001882	Leukopenia	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0002488	Acute leukemia	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0001881	HP:0001882	Leukopenia	2	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5	.	77
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis		181
HP:0001881	HP:0001974	Leukocytosis	2	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0001881	HP:0032309	Abnormal granulocyte count	2	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis		181
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	181
HP:0001881	HP:0001974	Leukocytosis	2	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	181
HP:0001881	HP:0005547	Myeloproliferative disorder	2	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia	HP:0040280 - Obligate	181
HP:0001881	HP:0002488	Acute leukemia	2	RUNX1 CL E G H	861	10471	OMIM:601626	Leukemia, acute myeloid		181
HP:0001881	HP:0002488	Acute leukemia	2	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy		181
HP:0001881	HP:0001974	Leukocytosis	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.	86
HP:0001881	HP:0001974	Leukocytosis	2	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040283 - Occasional	86
HP:0001881	HP:0001882	Leukopenia	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	HP:0040283 - Occasional	8
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0001881	HP:0002488	Acute leukemia	2	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome		4
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001881	HP:0002488	Acute leukemia	2	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome		4
HP:0001881	HP:0002488	Acute leukemia	2	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040282 - Frequent	4
HP:0001881	HP:0012324	Myeloid leukemia	2	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001881	HP:0012324	Myeloid leukemia	2	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome		4
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001881	HP:0002488	Acute leukemia	2	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7		4
HP:0001881	HP:0005558	Chronic leukemia	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0001881	HP:0001882	Leukopenia	2	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0001881	HP:0001882	Leukopenia	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0002843	Abnormal T cell morphology	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0002846	Abnormal B cell morphology	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0001881	HP:0001882	Leukopenia	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	26
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0001881	HP:0002488	Acute leukemia	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0001881	HP:0002488	Acute leukemia	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0001881	HP:0001882	Leukopenia	2	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional	77
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy		1134
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy		304
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5		2
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5		2
HP:0001881	HP:0012324	Myeloid leukemia	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0001881	HP:0002488	Acute leukemia	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0001881	HP:0001974	Leukocytosis	2	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0001881	HP:0002488	Acute leukemia	2	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy		223
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0001881	HP:0002488	Acute leukemia	2	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	4
HP:0001881	HP:0005547	Myeloproliferative disorder	2	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		4
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001881	HP:0001974	Leukocytosis	2	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001881	HP:0002488	Acute leukemia	2	SH3GL1 CL E G H	6455	10830	OMIM:601626	Leukemia, acute myeloid
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001881	HP:0001922	Vacuolated lymphocytes	2	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.	78
HP:0001881	HP:0001922	Vacuolated lymphocytes	2	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease	.	78
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome		26
HP:0001881	HP:0001974	Leukocytosis	2	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome		26
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome		26
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG		24
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG		24
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0001881	HP:0001974	Leukocytosis	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040281 - Very frequent	71
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0001881	HP:0002846	Abnormal B cell morphology	2	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001881	HP:0001882	Leukopenia	2	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.	101
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary		101
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary		101
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0001881	HP:0001974	Leukocytosis	2	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0001881	HP:0001882	Leukopenia	2	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0001881	HP:0001882	Leukopenia	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance		104
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0001881	HP:0001882	Leukopenia	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	274
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0001881	HP:0002843	Abnormal T cell morphology	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0001881	HP:0002843	Abnormal T cell morphology	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0001881	HP:0002488	Acute leukemia	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0001881	HP:0002846	Abnormal B cell morphology	2	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0001881	HP:0002843	Abnormal T cell morphology	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0001881	HP:0002846	Abnormal B cell morphology	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040281 - Very frequent	49
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0002846	Abnormal B cell morphology	2	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0001974	Leukocytosis	2	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	34
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001881	HP:0001974	Leukocytosis	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001881	HP:0001882	Leukopenia	2	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001881	HP:0002488	Acute leukemia	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0001881	HP:0001974	Leukocytosis	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0001974	Leukocytosis	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0002488	Acute leukemia	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0012310	Abnormal monocyte count	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0001881	HP:0001882	Leukopenia	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001881	HP:0002488	Acute leukemia	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001881	HP:0002488	Acute leukemia	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis		1
HP:0001881	HP:0001974	Leukocytosis	2	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0001974	Leukocytosis	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0001881	HP:0002488	Acute leukemia	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0005547	Myeloproliferative disorder	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0001881	HP:0005558	Chronic leukemia	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0012324	Myeloid leukemia	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040281 - Very frequent	1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0001881	HP:0002846	Abnormal B cell morphology	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0001881	HP:0032309	Abnormal granulocyte count	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0001881	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0001881	HP:0001974	Leukocytosis	2	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0001881	HP:0001882	Leukopenia	2	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0001881	HP:0001974	Leukocytosis	2	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	110
HP:0001881	HP:0032309	Abnormal granulocyte count	2	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0001881	HP:0032309	Abnormal granulocyte count	2	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0001881	HP:0001974	Leukocytosis	2	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0001881	HP:0032309	Abnormal granulocyte count	2	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0001881	HP:0001974	Leukocytosis	2	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0001881	HP:0032309	Abnormal granulocyte count	2	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0001881	HP:0001882	Leukopenia	2	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent	2
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus		2
HP:0001881	HP:0001882	Leukopenia	2	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0001974	Leukocytosis	2	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0001881	HP:0032309	Abnormal granulocyte count	2	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0001882	Leukopenia	2	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0001881	HP:0032309	Abnormal granulocyte count	2	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0001881	HP:0002488	Acute leukemia	2	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis	HP:0040283 - Occasional	19
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0001881	HP:0032309	Abnormal granulocyte count	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001881	HP:0032309	Abnormal granulocyte count	2	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0001881	HP:0032309	Abnormal granulocyte count	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0001881	HP:0002843	Abnormal T cell morphology	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001881	HP:0002846	Abnormal B cell morphology	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001881	HP:0002488	Acute leukemia	2	TAL1 CL E G H	6886	11556	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1
HP:0001881	HP:0002488	Acute leukemia	2	TAL2 CL E G H	6887	11557	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis		20
HP:0001881	HP:0001974	Leukocytosis	2	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	20
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis		20
HP:0001881	HP:0001882	Leukopenia	2	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0001881	HP:0001974	Leukocytosis	2	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	22
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0001881	HP:0002846	Abnormal B cell morphology	2	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0001881	HP:0001974	Leukocytosis	2	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0001881	HP:0001882	Leukopenia	2	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia	HP:0040283 - Occasional	16
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy		78
HP:0001881	HP:0002846	Abnormal B cell morphology	2	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0001881	HP:0002488	Acute leukemia	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0002843	Abnormal T cell morphology	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0002846	Abnormal B cell morphology	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0001974	Leukocytosis	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0002488	Acute leukemia	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0012310	Abnormal monocyte count	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23		3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		48
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0001881	HP:0012324	Myeloid leukemia	2	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	.	48
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0001881	HP:0001882	Leukopenia	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		238
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0001881	HP:0002488	Acute leukemia	2	TERT CL E G H	7015	11730	OMIM:601626	Leukemia, acute myeloid		238
HP:0001881	HP:0012324	Myeloid leukemia	2	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0001881	HP:0001974	Leukocytosis	2	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0001881	HP:0002488	Acute leukemia	2	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis		3
HP:0001881	HP:0001974	Leukocytosis	2	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis		3
HP:0001881	HP:0002488	Acute leukemia	2	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	3
HP:0001881	HP:0002846	Abnormal B cell morphology	2	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0001881	HP:0002488	Acute leukemia	2	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	3
HP:0001881	HP:0001974	Leukocytosis	2	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia		3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia		3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0001974	Leukocytosis	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0001881	HP:0002488	Acute leukemia	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0005547	Myeloproliferative disorder	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0001881	HP:0005558	Chronic leukemia	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0012324	Myeloid leukemia	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040281 - Very frequent	3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0001881	HP:0001882	Leukopenia	2	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0001881	HP:0001974	Leukocytosis	2	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0001881	HP:0002488	Acute leukemia	2	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0001881	HP:0005558	Chronic leukemia	2	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis		6
HP:0001881	HP:0001974	Leukocytosis	2	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	6
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis		6
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0001881	HP:0001882	Leukopenia	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.	60
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		60
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis		3
HP:0001881	HP:0001974	Leukocytosis	2	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	3
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis		3
HP:0001881	HP:0001882	Leukopenia	2	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0002846	Abnormal B cell morphology	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy		136
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0001881	HP:0001974	Leukocytosis	2	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040282 - Frequent	131
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy		73
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy		180
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001881	HP:0002846	Abnormal B cell morphology	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001881	HP:0002843	Abnormal T cell morphology	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0002846	Abnormal B cell morphology	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0012176	Abnormal natural killer cell morphology	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001881	HP:0001974	Leukocytosis	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001881	HP:0002488	Acute leukemia	2	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	911
HP:0001881	HP:0002488	Acute leukemia	2	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0001881	HP:0002488	Acute leukemia	2	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.	911
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy		230
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0001881	HP:0001974	Leukocytosis	2	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis		2
HP:0001881	HP:0001974	Leukocytosis	2	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	2
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis		2
HP:0001881	HP:0002488	Acute leukemia	2	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040283 - Occasional	31
HP:0001881	HP:0005558	Chronic leukemia	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0001881	HP:0001882	Leukopenia	2	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus	.	56
HP:0001881	HP:0002488	Acute leukemia	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0001881	HP:0002846	Abnormal B cell morphology	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0001881	HP:0040088	Abnormal lymphocyte 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:0001881	HP:0001882	Leukopenia	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0002488	Acute leukemia	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001974	Leukocytosis	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0001881	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome		11
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy		7128
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy		85
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0001881	HP:0002488	Acute leukemia	2	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040283 - Occasional	22
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0001881	HP:0032309	Abnormal granulocyte count	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0001881	HP:0001882	Leukopenia	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	2
HP:0001881	HP:0002843	Abnormal T cell morphology	2	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0002846	Abnormal B cell morphology	2	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0001881	HP:0032309	Abnormal granulocyte count	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0001881	HP:0032309	Abnormal granulocyte count	2	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis		5
HP:0001881	HP:0001974	Leukocytosis	2	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	5
HP:0001881	HP:0032309	Abnormal granulocyte count	2	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis		5
HP:0001881	HP:0001882	Leukopenia	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	41
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0001881	HP:0001882	Leukopenia	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0001881	HP:0032309	Abnormal granulocyte count	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001881	HP:0001974	Leukocytosis	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001881	HP:0001974	Leukocytosis	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001881	HP:0032309	Abnormal granulocyte count	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0001881	HP:0001882	Leukopenia	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0001881	HP:0032309	Abnormal granulocyte count	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0001881	HP:0032309	Abnormal granulocyte count	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0001881	HP:0001882	Leukopenia	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent	1
HP:0001881	HP:0001882	Leukopenia	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001881	HP:0001882	Leukopenia	2	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive	.	7
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0001881	HP:0032309	Abnormal granulocyte count	2	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0002843	Abnormal T cell morphology	2	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0012310	Abnormal monocyte count	2	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0032309	Abnormal granulocyte count	2	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0001974	Leukocytosis	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0002488	Acute leukemia	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0001881	HP:0002843	Abnormal T cell morphology	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0002971	Absent microvilli on the surface of peripheral blood lymphocytes	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0001881	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0005558	Chronic leukemia	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0032309	Abnormal granulocyte count	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0032309	Abnormal granulocyte count	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0001881	HP:0012310	Abnormal monocyte count	2	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0001881	HP:0032309	Abnormal granulocyte count	2	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0002843	Abnormal T cell morphology	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0002846	Abnormal B cell morphology	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0032309	Abnormal granulocyte count	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0001881	HP:0002488	Acute leukemia	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0001881	HP:0005558	Chronic leukemia	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0001881	HP:0032309	Abnormal granulocyte count	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0001881	HP:0002843	Abnormal T cell morphology	2	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001881	HP:0001974	Leukocytosis	2	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001881	HP:0032309	Abnormal granulocyte count	2	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0001881	HP:0001882	Leukopenia	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	125
HP:0001881	HP:0001974	Leukocytosis	2	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	9
HP:0001881	HP:0002488	Acute leukemia	2	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	9
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0001881	HP:0002843	Abnormal T cell morphology	2	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0001881	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	2	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	HP:0001974	Leukocytosis	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	HP:0002843	Abnormal T cell morphology	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	HP:0002843	Abnormal T cell morphology	2	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0001881	HP:0001882	Leukopenia	2	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0001881	HP:0001974	Leukocytosis	2	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0001881	HP:0040088	Abnormal lymphocyte count	2	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0001881	HP:0001974	Leukocytosis	2	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0001881	HP:0001882	Leukopenia	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001881	HP:0001911	Abnormal granulocyte morphology	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0004311	Abnormal macrophage morphology	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0012144	Abnormal monocyte morphology	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0012310	Abnormal monocyte count	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0032309	Abnormal granulocyte count	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0001974	Leukocytosis	2	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001881	HP:0005531	Biphenotypic acute leukemia	3	CL E G H
HP:0001881	HP:0005534	Transient myeloproliferative syndrome	3	CL E G H
HP:0001881	HP:0005539	T cell chronic lymphocytic lymphoma/leukemia	3	CL E G H
HP:0001881	HP:0025617	Abnormal plasma cell count	3	CL E G H
HP:0001881	HP:0030326	Abnormal macrophage count	3	CL E G H
HP:0001881	HP:0030333	Abnormal alpha-beta T cell morphology	3	CL E G H
HP:0001881	HP:0032310	Granulocytosis	3	CL E G H
HP:0001881	HP:0033046	Michaelis-Gutmann bodies	3	CL E G H
HP:0001881	HP:4000034	Infection-ssociated lymphopenia	3	CL E G H
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	254
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0001881	HP:0001912	Abnormal basophil morphology	3	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	51
HP:0001881	HP:0005506	Chronic myelogenous leukemia	3	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid	.	51
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid		51
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001881	HP:0001888	Lymphopenia	3	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001881	HP:0011839	Abnormal T cell count	3	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	208
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	307
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome		75
HP:0001881	HP:0001880	Eosinophilia	3	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	75
HP:0001881	HP:0020064	Abnormal eosinophil count	3	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome		75
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome		75
HP:0001881	HP:0001888	Lymphopenia	3	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0001881	HP:0010975	Abnormal B cell count	3	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0001881	HP:0011839	Abnormal T cell count	3	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0001881	HP:0001879	Abnormal eosinophil morphology	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:0001881	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:0001881	HP:0001888	Lymphopenia	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:0001881	HP:0020064	Abnormal eosinophil count	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:0001881	HP:0010975	Abnormal B cell count	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:0001881	HP:0032309	Abnormal granulocyte count	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:0001881	HP:0001874	Abnormality of neutrophils	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0004808	Acute myeloid leukemia	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0001888	Lymphopenia	3	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0001881	HP:0001888	Lymphopenia	3	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0001881	HP:0001888	Lymphopenia	3	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	1
HP:0001881	HP:0005550	Chronic lymphatic leukemia	3	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	116
HP:0001881	HP:0004808	Acute myeloid leukemia	3	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001881	HP:0001874	Abnormality of neutrophils	3	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0001881	HP:0011991	Abnormal neutrophil count	3	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0001881	HP:0032309	Abnormal granulocyte count	3	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0001881	HP:0001888	Lymphopenia	3	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001881	HP:0001913	Granulocytopenia	3	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001881	HP:0032309	Abnormal granulocyte count	3	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001881	HP:0001874	Abnormality of neutrophils	3	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040281 - Very frequent	19
HP:0001881	HP:0001888	Lymphopenia	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001881	HP:0010975	Abnormal B cell count	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001881	HP:0001874	Abnormality of neutrophils	3	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0001881	HP:0011991	Abnormal neutrophil count	3	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0001881	HP:0032309	Abnormal granulocyte count	3	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	95
HP:0001881	HP:0001874	Abnormality of neutrophils	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0011839	Abnormal T cell count	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0011991	Abnormal neutrophil count	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0032309	Abnormal granulocyte count	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0001874	Abnormality of neutrophils	3	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0001881	HP:0001982	Sea-blue histiocytosis	3	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease	.	39
HP:0001881	HP:0001982	Sea-blue histiocytosis	3	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent	39
HP:0001881	HP:0012209	Juvenile myelomonocytic leukemia	3	ARHGAP26 CL E G H	23092	17073	OMIM:607785	Juvenile myelomonocytic leukemia	.	12
HP:0001881	HP:0001888	Lymphopenia	3	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0001881	HP:0010975	Abnormal B cell count	3	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0001881	HP:0100827	Lymphocytosis	3	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	.
HP:0001881	HP:0002955	Granulomatosis	3	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis		145
HP:0001881	HP:0100494	Abnormal mast cell morphology	3	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040281 - Very frequent	145
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis		145
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis		145
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0001880	Eosinophilia	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0001881	HP:0001912	Abnormal basophil morphology	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0100494	Abnormal mast cell morphology	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040281 - Very frequent	145
HP:0001881	HP:0020064	Abnormal eosinophil count	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0004808	Acute myeloid leukemia	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0001881	HP:0005550	Chronic lymphatic leukemia	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040284 - Very rare	145
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0012325	Chronic myelomonocytic leukemia	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0001881	HP:0031806	Abnormal basophil count	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0001888	Lymphopenia	3	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0001881	HP:0001888	Lymphopenia	3	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0001881	HP:0011839	Abnormal T cell count	3	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0001881	HP:0001888	Lymphopenia	3	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001881	HP:0010975	Abnormal B cell count	3	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001881	HP:0011839	Abnormal T cell count	3	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001881	HP:0001888	Lymphopenia	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001881	HP:0020064	Abnormal eosinophil count	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001881	HP:0001888	Lymphopenia	3	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0001881	HP:0010975	Abnormal B cell count	3	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0001881	HP:0001912	Abnormal basophil morphology	3	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0010975	Abnormal B cell count	3	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0031806	Abnormal basophil count	3	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0032309	Abnormal granulocyte count	3	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0001874	Abnormality of neutrophils	3	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	204
HP:0001881	HP:0001874	Abnormality of neutrophils	3	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	BAX CL E G H	581	959	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	4
HP:0001881	HP:0011839	Abnormal T cell count	3	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0001881	HP:0001880	Eosinophilia	3	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0001881	HP:0001888	Lymphopenia	3	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0001881	HP:0020064	Abnormal eosinophil count	3	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0001881	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:0001881	HP:0020064	Abnormal eosinophil count	3	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0001881	HP:0011991	Abnormal neutrophil count	3	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0001881	HP:0032309	Abnormal granulocyte count	3	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0001881	HP:0001912	Abnormal basophil morphology	3	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	5
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	BCR CL E G H	613	1014	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	5
HP:0001881	HP:0005506	Chronic myelogenous leukemia	3	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid	.	5
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid		5
HP:0001881	HP:0004808	Acute myeloid leukemia	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0001881	HP:0011839	Abnormal T cell count	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0001881	HP:0001874	Abnormality of neutrophils	3	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0001881	HP:0011991	Abnormal neutrophil count	3	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0001881	HP:0032309	Abnormal granulocyte count	3	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0001881	HP:0001874	Abnormality of neutrophils	3	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0001881	HP:0011991	Abnormal neutrophil count	3	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0001881	HP:0032309	Abnormal granulocyte count	3	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001881	HP:0001888	Lymphopenia	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001881	HP:0020064	Abnormal eosinophil count	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001881	HP:0032309	Abnormal granulocyte count	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001881	HP:0012209	Juvenile myelomonocytic leukemia	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0001881	HP:0004808	Acute myeloid leukemia	3	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0001881	HP:0001874	Abnormality of neutrophils	3	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001881	HP:0001888	Lymphopenia	3	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001881	HP:0010975	Abnormal B cell count	3	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001881	HP:0011991	Abnormal neutrophil count	3	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001881	HP:0032309	Abnormal granulocyte count	3	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001881	HP:0001888	Lymphopenia	3	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0001881	HP:0010975	Abnormal B cell count	3	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0001881	HP:0001874	Abnormality of neutrophils	3	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0001881	HP:0011991	Abnormal neutrophil count	3	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0001881	HP:0032309	Abnormal granulocyte count	3	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001881	HP:0001880	Eosinophilia	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare	1
HP:0001881	HP:0100827	Lymphocytosis	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001881	HP:0020064	Abnormal eosinophil count	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001881	HP:0011839	Abnormal T cell count	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0001881	HP:0001880	Eosinophilia	3	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A	.	323
HP:0001881	HP:0020064	Abnormal eosinophil count	3	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0001881	HP:0020064	Abnormal eosinophil count	3	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0001881	HP:0100827	Lymphocytosis	3	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0001881	HP:0010975	Abnormal 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:0001881	HP:0011839	Abnormal T cell count	3	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0001881	HP:0012310	Abnormal monocyte count	3	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0001881	HP:0012312	Monocytopenia	3	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis		45
HP:0001881	HP:0001880	Eosinophilia	3	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis	.	45
HP:0001881	HP:0020064	Abnormal eosinophil count	3	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis		45
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis		45
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001881	HP:0001880	Eosinophilia	3	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001881	HP:0020064	Abnormal eosinophil count	3	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0001880	Eosinophilia	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0001881	HP:0001888	Lymphopenia	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0001881	HP:0100827	Lymphocytosis	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0001881	HP:0020064	Abnormal eosinophil count	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0010975	Abnormal B cell count	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0011839	Abnormal T cell count	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0001880	Eosinophilia	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0001881	HP:0100827	Lymphocytosis	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0020064	Abnormal eosinophil count	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0010975	Abnormal B cell count	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0011839	Abnormal T cell count	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0011839	Abnormal T cell count	3	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis		317
HP:0001881	HP:0100494	Abnormal mast cell morphology	3	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040281 - Very frequent	317
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis		317
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis		317
HP:0001881	HP:0012209	Juvenile myelomonocytic leukemia	3	CBL CL E G H	867	1541	OMIM:607785	Juvenile myelomonocytic leukemia	.	317
HP:0001881	HP:0012209	Juvenile myelomonocytic leukemia	3	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0001881	HP:0001888	Lymphopenia	3	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	147
HP:0001881	HP:0001888	Lymphopenia	3	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	38
HP:0001881	HP:0010975	Abnormal B cell count	3	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0001880	Eosinophilia	3	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0001888	Lymphopenia	3	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0020064	Abnormal eosinophil count	3	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0011839	Abnormal T cell count	3	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0001881	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:0001881	HP:0001888	Lymphopenia	3	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	8
HP:0001881	HP:0020064	Abnormal eosinophil count	3	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0001881	HP:0011839	Abnormal T cell count	3	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0001881	HP:0012156	Hemophagocytosis	3	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0001881	HP:0001888	Lymphopenia	3	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19	.	18
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0001881	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:0001881	HP:0001888	Lymphopenia	3	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	18
HP:0001881	HP:0020064	Abnormal eosinophil count	3	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0001881	HP:0011839	Abnormal T cell count	3	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0001881	HP:0001888	Lymphopenia	3	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18	HP:0040284 - Very rare	24
HP:0001881	HP:0011839	Abnormal T cell count	3	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0001881	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:0001881	HP:0001888	Lymphopenia	3	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	24
HP:0001881	HP:0020064	Abnormal eosinophil count	3	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0001881	HP:0011839	Abnormal T cell count	3	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0001881	HP:0001888	Lymphopenia	3	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0001881	HP:0011839	Abnormal T cell count	3	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0001881	HP:0011839	Abnormal T cell count	3	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0001881	HP:0001888	Lymphopenia	3	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0001881	HP:0010975	Abnormal B cell count	3	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0001881	HP:0001888	Lymphopenia	3	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0001881	HP:0001888	Lymphopenia	3	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0001881	HP:0011839	Abnormal T cell count	3	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	4
HP:0001881	HP:0001888	Lymphopenia	3	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	4
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001881	HP:0001888	Lymphopenia	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001881	HP:0020064	Abnormal eosinophil count	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001881	HP:0004808	Acute myeloid leukemia	3	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0001881	HP:0001880	Eosinophilia	3	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0001881	HP:0020064	Abnormal eosinophil count	3	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0001881	HP:0004808	Acute myeloid leukemia	3	CEBPA CL E G H	1050	1833	OMIM:601626	Leukemia, acute myeloid	.	65
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency		3
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0001881	HP:0001888	Lymphopenia	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome		515
HP:0001881	HP:0001880	Eosinophilia	3	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	515
HP:0001881	HP:0020064	Abnormal eosinophil count	3	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome		515
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome		515
HP:0001881	HP:0004808	Acute myeloid leukemia	3	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0001881	HP:0004808	Acute myeloid leukemia	3	CHIC2 CL E G H	26511	1935	OMIM:601626	Leukemia, acute myeloid	.
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001881	HP:0001888	Lymphopenia	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001881	HP:0011839	Abnormal T cell count	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0001880	Eosinophilia	3	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0001881	HP:0001888	Lymphopenia	3	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	38
HP:0001881	HP:0020064	Abnormal eosinophil count	3	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0004808	Acute myeloid leukemia	3	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0012310	Abnormal monocyte count	3	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0012311	Monocytosis	3	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	38
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0001874	Abnormality of neutrophils	3	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0001881	HP:0011991	Abnormal neutrophil count	3	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0001881	HP:0032309	Abnormal granulocyte count	3	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0001881	HP:0001888	Lymphopenia	3	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8	.	7
HP:0001881	HP:0001888	Lymphopenia	3	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	46
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CSF3R CL E G H	1441	2439	OMIM:617014	Neutropenia, severe congenital, 7, autosomal recessive		34
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CSF3R CL E G H	1441	2439	OMIM:617014	Neutropenia, severe congenital, 7, autosomal recessive		34
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CSF3R CL E G H	1441	2439	OMIM:617014	Neutropenia, severe congenital, 7, autosomal recessive		34
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary		34
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary		34
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary		34
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	104
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	160
HP:0001881	HP:0001888	Lymphopenia	3	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0001881	HP:0002955	Granulomatosis	3	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	10
HP:0001881	HP:0001888	Lymphopenia	3	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001881	HP:0010975	Abnormal B cell count	3	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001881	HP:0011839	Abnormal T cell count	3	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001881	HP:0001888	Lymphopenia	3	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0001881	HP:0010975	Abnormal B cell count	3	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0001881	HP:0011839	Abnormal T cell count	3	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0001881	HP:0001888	Lymphopenia	3	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040281 - Very frequent	9
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0001881	HP:0011991	Abnormal neutrophil count	3	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0001881	HP:0032309	Abnormal granulocyte count	3	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	27
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0001881	HP:0002955	Granulomatosis	3	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.	27
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	111
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0001881	HP:0002955	Granulomatosis	3	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0001881	HP:0001874	Abnormality of neutrophils	3	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001881	HP:0001888	Lymphopenia	3	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001881	HP:0100494	Abnormal mast cell morphology	3	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV	HP:0040282 - Frequent	2
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0001881	HP:0001880	Eosinophilia	3	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0001881	HP:0001880	Eosinophilia	3	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0001881	HP:0001888	Lymphopenia	3	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0001881	HP:0020064	Abnormal eosinophil count	3	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0020064	Abnormal eosinophil count	3	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0001881	HP:0010975	Abnormal B cell count	3	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0001881	HP:0032309	Abnormal granulocyte count	3	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0032309	Abnormal granulocyte count	3	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0001881	HP:0011839	Abnormal T cell count	3	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0001880	Eosinophilia	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0001888	Lymphopenia	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0020064	Abnormal eosinophil count	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0010975	Abnormal B cell count	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0011839	Abnormal T cell count	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0032309	Abnormal granulocyte count	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0004808	Acute myeloid leukemia	3	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0001881	HP:0012310	Abnormal monocyte count	3	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0001881	HP:0012311	Monocytosis	3	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0001881	HP:0001888	Lymphopenia	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001881	HP:0011839	Abnormal T cell count	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001881	HP:0001874	Abnormality of neutrophils	3	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	263
HP:0001881	HP:0001874	Abnormality of neutrophils	3	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	65
HP:0001881	HP:0004808	Acute myeloid leukemia	3	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0001881	HP:0001874	Abnormality of neutrophils	3	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1496
HP:0001881	HP:0004808	Acute myeloid leukemia	3	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	HP:0040283 - Occasional	5
HP:0001881	HP:0001874	Abnormality of neutrophils	3	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0001881	HP:0004808	Acute myeloid leukemia	3	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	5
HP:0001881	HP:0011991	Abnormal neutrophil count	3	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0001881	HP:0032309	Abnormal granulocyte count	3	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0001881	HP:0001874	Abnormality of neutrophils	3	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0001881	HP:0004808	Acute myeloid leukemia	3	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0001881	HP:0011991	Abnormal neutrophil count	3	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0001881	HP:0032309	Abnormal granulocyte count	3	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0001881	HP:0012156	Hemophagocytosis	3	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0001881	HP:0004808	Acute myeloid leukemia	3	DNMT3A CL E G H	1788	2978	OMIM:601626	Leukemia, acute myeloid	.	44
HP:0001881	HP:0001874	Abnormality of neutrophils	3	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	79
HP:0001881	HP:0001888	Lymphopenia	3	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	79
HP:0001881	HP:0001888	Lymphopenia	3	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0001881	HP:0011839	Abnormal T cell count	3	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0001881	HP:0001888	Lymphopenia	3	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40	.	6
HP:0001881	HP:0011839	Abnormal T cell count	3	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0001881	HP:0001888	Lymphopenia	3	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0001881	HP:0010975	Abnormal B cell count	3	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0001881	HP:0011839	Abnormal T cell count	3	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0001880	Eosinophilia	3	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0001881	HP:0001888	Lymphopenia	3	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0020064	Abnormal eosinophil count	3	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0011839	Abnormal T cell count	3	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0032309	Abnormal granulocyte count	3	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0001874	Abnormality of neutrophils	3	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	55
HP:0001881	HP:0001874	Abnormality of neutrophils	3	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	358
HP:0001881	HP:0001874	Abnormality of neutrophils	3	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	747
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	DUT CL E G H	1854	3078	OMIM:620044
HP:0001881	HP:0001874	Abnormality of neutrophils	3	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0001881	HP:0004808	Acute myeloid leukemia	3	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0001881	HP:0100827	Lymphocytosis	3	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional	65
HP:0001881	HP:0011991	Abnormal neutrophil count	3	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0001881	HP:0032309	Abnormal granulocyte count	3	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0001880	Eosinophilia	3	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0001881	HP:0001888	Lymphopenia	3	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	79
HP:0001881	HP:0020064	Abnormal eosinophil count	3	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0004808	Acute myeloid leukemia	3	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0012310	Abnormal monocyte count	3	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0012311	Monocytosis	3	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	79
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia		79
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0001881	HP:0001888	Lymphopenia	3	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional	79
HP:0001881	HP:0020064	Abnormal eosinophil count	3	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia		79
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia		79
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0001880	Eosinophilia	3	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0001881	HP:0001913	Granulocytopenia	3	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0020064	Abnormal eosinophil count	3	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0004845	Acute monocytic leukemia	3	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0012310	Abnormal monocyte count	3	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0012311	Monocytosis	3	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0100827	Lymphocytosis	3	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001881	HP:0010975	Abnormal B cell count	3	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0001888	Lymphopenia	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0011839	Abnormal T cell count	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0011991	Abnormal neutrophil count	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0032309	Abnormal granulocyte count	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0004808	Acute myeloid leukemia	3	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to	.	12
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0001881	HP:0004808	Acute myeloid leukemia	3	ETV6 CL E G H	2120	3495	OMIM:601626	Leukemia, acute myeloid	.	13
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0001881	HP:0001880	Eosinophilia	3	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0001881	HP:0001888	Lymphopenia	3	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0001881	HP:0020064	Abnormal eosinophil count	3	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0001880	Eosinophilia	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0001888	Lymphopenia	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0001881	HP:0020064	Abnormal eosinophil count	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0011839	Abnormal T cell count	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001880	Eosinophilia	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0001881	HP:0001880	Eosinophilia	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0001881	HP:0001888	Lymphopenia	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0001881	HP:0100827	Lymphocytosis	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0001881	HP:0020064	Abnormal eosinophil count	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0020064	Abnormal eosinophil count	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0010975	Abnormal B cell count	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0011839	Abnormal T cell count	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0011839	Abnormal T cell count	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0001880	Eosinophilia	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0001881	HP:0001880	Eosinophilia	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0001881	HP:0001888	Lymphopenia	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0001881	HP:0100827	Lymphocytosis	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0001881	HP:0020064	Abnormal eosinophil count	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0020064	Abnormal eosinophil count	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0010975	Abnormal B cell count	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0011839	Abnormal T cell count	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0011839	Abnormal T cell count	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0001888	Lymphopenia	3	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	114
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0001881	HP:0001888	Lymphopenia	3	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0001881	HP:0010975	Abnormal B cell count	3	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0001881	HP:0011839	Abnormal T cell count	3	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	36
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	184
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	FLT3 CL E G H	2322	3765	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	61
HP:0001881	HP:0004808	Acute myeloid leukemia	3	FLT3 CL E G H	2322	3765	OMIM:601626	Leukemia, acute myeloid	.	61
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0001888	Lymphopenia	3	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0010975	Abnormal B cell count	3	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0100827	Lymphocytosis	3	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001881	HP:0001888	Lymphopenia	3	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0001881	HP:0011839	Abnormal T cell count	3	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0001881	HP:0001888	Lymphopenia	3	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0001881	HP:0011839	Abnormal T cell count	3	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0001881	HP:0001888	Lymphopenia	3	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0001881	HP:0011839	Abnormal T cell count	3	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0001881	HP:0011839	Abnormal T cell count	3	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0001880	Eosinophilia	3	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0020064	Abnormal eosinophil count	3	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency		65
HP:0001881	HP:0001874	Abnormality of neutrophils	3	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1		3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0001881	HP:0001888	Lymphopenia	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0001881	HP:0011991	Abnormal neutrophil count	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0001881	HP:0012310	Abnormal monocyte count	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0001881	HP:0012311	Monocytosis	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0001881	HP:0032309	Abnormal granulocyte count	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0001881	HP:0001874	Abnormality of neutrophils	3	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities		29
HP:0001881	HP:0011991	Abnormal neutrophil count	3	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities		29
HP:0001881	HP:0032309	Abnormal granulocyte count	3	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities		29
HP:0001881	HP:0001874	Abnormality of neutrophils	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0001881	HP:0004808	Acute myeloid leukemia	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0001881	HP:0011991	Abnormal neutrophil count	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0001881	HP:0032309	Abnormal granulocyte count	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0001881	HP:0006733	Acute megakaryocytic leukemia	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0001881	HP:0001874	Abnormality of neutrophils	3	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome		137
HP:0001881	HP:0011991	Abnormal neutrophil count	3	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent	137
HP:0001881	HP:0032309	Abnormal granulocyte count	3	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome		137
HP:0001881	HP:0001874	Abnormality of neutrophils	3	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0001881	HP:0001888	Lymphopenia	3	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0001881	HP:0011991	Abnormal neutrophil count	3	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0001881	HP:0012310	Abnormal monocyte count	3	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0001881	HP:0012312	Monocytopenia	3	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0001881	HP:0032309	Abnormal granulocyte count	3	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0001881	HP:0004808	Acute myeloid leukemia	3	GATA2 CL E G H	2624	4171	OMIM:601626	Leukemia, acute myeloid	.	137
HP:0001881	HP:0004808	Acute myeloid leukemia	3	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0001881	HP:0011839	Abnormal T cell count	3	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0001881	HP:0004808	Acute myeloid leukemia	3	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome	HP:0040284 - Very rare	137
HP:0001881	HP:0001874	Abnormality of neutrophils	3	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	35
HP:0001881	HP:0001874	Abnormality of neutrophils	3	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0001880	Eosinophilia	3	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0001881	HP:0001888	Lymphopenia	3	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	56
HP:0001881	HP:0020064	Abnormal eosinophil count	3	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0004808	Acute myeloid leukemia	3	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0001881	HP:0011991	Abnormal neutrophil count	3	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0012310	Abnormal monocyte count	3	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0012311	Monocytosis	3	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	56
HP:0001881	HP:0032309	Abnormal granulocyte count	3	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0001874	Abnormality of neutrophils	3	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0001881	HP:0004808	Acute myeloid leukemia	3	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults	HP:0040283 - Occasional	56
HP:0001881	HP:0011991	Abnormal neutrophil count	3	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0001881	HP:0032309	Abnormal granulocyte count	3	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0001881	HP:0001874	Abnormality of neutrophils	3	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001881	HP:0001888	Lymphopenia	3	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001881	HP:0010975	Abnormal B cell count	3	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001881	HP:0011991	Abnormal neutrophil count	3	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001881	HP:0012310	Abnormal monocyte count	3	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001881	HP:0012311	Monocytosis	3	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant	.	56
HP:0001881	HP:0032309	Abnormal granulocyte count	3	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001881	HP:0001874	Abnormality of neutrophils	3	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001881	HP:0001888	Lymphopenia	3	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001881	HP:0011991	Abnormal neutrophil count	3	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001881	HP:0032309	Abnormal granulocyte count	3	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001881	HP:0001982	Sea-blue histiocytosis	3	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.	120
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	GNB1 CL E G H	2782	4396	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	12
HP:0001881	HP:0001874	Abnormality of neutrophils	3	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency		12
HP:0001881	HP:0001874	Abnormality of neutrophils	3	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0001881	HP:0011991	Abnormal neutrophil count	3	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0001881	HP:0032309	Abnormal granulocyte count	3	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0001881	HP:0001874	Abnormality of neutrophils	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0001881	HP:0011991	Abnormal neutrophil count	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0001881	HP:0032309	Abnormal granulocyte count	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0001881	HP:0001874	Abnormality of neutrophils	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001881	HP:0001888	Lymphopenia	3	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	2
HP:0001881	HP:0012156	Hemophagocytosis	3	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040282 - Frequent
HP:0001881	HP:0012156	Hemophagocytosis	3	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE	HP:0040284 - Very rare
HP:0001881	HP:0001874	Abnormality of neutrophils	3	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0001881	HP:0011991	Abnormal neutrophil count	3	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0001881	HP:0032309	Abnormal granulocyte count	3	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0001881	HP:0001874	Abnormality of neutrophils	3	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	6
HP:0001881	HP:0001888	Lymphopenia	3	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	6
HP:0001881	HP:0001874	Abnormality of neutrophils	3	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040282 - Frequent	4
HP:0001881	HP:0002955	Granulomatosis	3	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0001881	HP:0011839	Abnormal T cell count	3	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0001881	HP:0002955	Granulomatosis	3	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	1
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001881	HP:0001880	Eosinophilia	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare	2
HP:0001881	HP:0100827	Lymphocytosis	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001881	HP:0020064	Abnormal eosinophil count	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001881	HP:0011839	Abnormal T cell count	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001881	HP:0032309	Abnormal granulocyte count	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001881	HP:0001874	Abnormality of neutrophils	3	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001881	HP:0011991	Abnormal neutrophil count	3	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001881	HP:0032309	Abnormal granulocyte count	3	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001881	HP:0001874	Abnormality of neutrophils	3	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0001881	HP:0011991	Abnormal neutrophil count	3	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0001881	HP:0032309	Abnormal granulocyte count	3	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0001881	HP:0010975	Abnormal B cell count	3	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001881	HP:0001888	Lymphopenia	3	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0001888	Lymphopenia	3	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0010975	Abnormal B cell count	3	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0004820	Acute myelomonocytic leukemia	3	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001881	HP:0005550	Chronic lymphatic leukemia	3	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	28
HP:0001881	HP:0001888	Lymphopenia	3	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0001881	HP:0001874	Abnormality of neutrophils	3	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0001881	HP:0011991	Abnormal neutrophil count	3	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0001881	HP:0100727	Histiocytosis	3	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0001881	HP:0001874	Abnormality of neutrophils	3	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0001881	HP:0001888	Lymphopenia	3	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0001881	HP:0010975	Abnormal B cell count	3	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0001881	HP:0011991	Abnormal neutrophil count	3	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0001881	HP:0001874	Abnormality of neutrophils	3	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0001881	HP:0011991	Abnormal neutrophil count	3	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0001881	HP:0001888	Lymphopenia	3	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0001881	HP:0010975	Abnormal B cell count	3	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0001888	Lymphopenia	3	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0010975	Abnormal B cell count	3	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0011839	Abnormal T cell count	3	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0001874	Abnormality of neutrophils	3	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001881	HP:0001888	Lymphopenia	3	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001881	HP:0010975	Abnormal B cell count	3	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001881	HP:0011991	Abnormal neutrophil count	3	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0001881	HP:0001880	Eosinophilia	3	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0001881	HP:0001880	Eosinophilia	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent	52
HP:0001881	HP:0020064	Abnormal eosinophil count	3	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0001881	HP:0020064	Abnormal eosinophil count	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0001881	HP:0001888	Lymphopenia	3	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0001881	HP:0010975	Abnormal B cell count	3	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0001881	HP:0001874	Abnormality of neutrophils	3	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040282 - Frequent	8
HP:0001881	HP:0001888	Lymphopenia	3	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0001881	HP:0010975	Abnormal B cell count	3	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0001881	HP:0001874	Abnormality of neutrophils	3	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0001881	HP:0011991	Abnormal neutrophil count	3	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0001881	HP:0010975	Abnormal B cell count	3	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0001881	HP:0001888	Lymphopenia	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001881	HP:0010975	Abnormal B cell count	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001881	HP:0011839	Abnormal T cell count	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001881	HP:0011839	Abnormal T cell count	3	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001881	HP:0001888	Lymphopenia	3	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0001881	HP:0011839	Abnormal T cell count	3	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome		48
HP:0001881	HP:0001880	Eosinophilia	3	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	48
HP:0001881	HP:0020064	Abnormal eosinophil count	3	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome		48
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome		48
HP:0001881	HP:0001888	Lymphopenia	3	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0001881	HP:0011839	Abnormal T cell count	3	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0001881	HP:0001888	Lymphopenia	3	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:0001881	HP:0040089	Abnormal natural killer cell count	3	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0001881	HP:0011839	Abnormal T cell count	3	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0001881	HP:0001874	Abnormality of neutrophils	3	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0001881	HP:0011991	Abnormal neutrophil count	3	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0001881	HP:0010975	Abnormal B cell count	3	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001881	HP:0001888	Lymphopenia	3	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001881	HP:0011991	Abnormal neutrophil count	3	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0001881	HP:0001880	Eosinophilia	3	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0001881	HP:0020064	Abnormal eosinophil count	3	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0001881	HP:0001888	Lymphopenia	3	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0001881	HP:0011839	Abnormal T cell count	3	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0001880	Eosinophilia	3	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0001881	HP:0020064	Abnormal eosinophil count	3	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0001888	Lymphopenia	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:0001881	HP:0011839	Abnormal T cell count	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:0001881	HP:0001874	Abnormality of neutrophils	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	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:0001881	HP:0001888	Lymphopenia	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:0001881	HP:0100827	Lymphocytosis	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:0001881	HP:0020064	Abnormal eosinophil count	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0011839	Abnormal T cell count	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0011991	Abnormal neutrophil count	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001881	HP:0001880	Eosinophilia	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001881	HP:0020064	Abnormal eosinophil count	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001881	HP:0001888	Lymphopenia	3	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0001881	HP:0001874	Abnormality of neutrophils	3	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0001881	HP:0011991	Abnormal neutrophil count	3	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0001881	HP:0001874	Abnormality of neutrophils	3	IRAK4 CL E G H	51135	17967	ORPHA:70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency		58
HP:0001881	HP:0011991	Abnormal neutrophil count	3	IRAK4 CL E G H	51135	17967	ORPHA:70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency		58
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IRAK4 CL E G H	51135	17967	ORPHA:70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency		58
HP:0001881	HP:0001874	Abnormality of neutrophils	3	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0011991	Abnormal neutrophil count	3	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0001888	Lymphopenia	3	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	4
HP:0001881	HP:0010975	Abnormal B cell count	3	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0001881	HP:0001874	Abnormality of neutrophils	3	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0001880	Eosinophilia	3	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0020064	Abnormal eosinophil count	3	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0011991	Abnormal neutrophil count	3	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0012310	Abnormal monocyte count	3	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0012312	Monocytopenia	3	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0032309	Abnormal granulocyte count	3	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0001881	HP:0001888	Lymphopenia	3	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001881	HP:0011839	Abnormal T cell count	3	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001881	HP:0001888	Lymphopenia	3	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001881	HP:0010975	Abnormal B cell count	3	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001881	HP:0011839	Abnormal T cell count	3	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001881	HP:0001874	Abnormality of neutrophils	3	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive		8
HP:0001881	HP:0011991	Abnormal neutrophil count	3	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive		8
HP:0001881	HP:0032309	Abnormal granulocyte count	3	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive		8
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0001881	HP:0001880	Eosinophilia	3	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0001881	HP:0020064	Abnormal eosinophil count	3	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0001881	HP:0032309	Abnormal granulocyte count	3	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0001881	HP:0004808	Acute myeloid leukemia	3	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	57
HP:0001881	HP:0005506	Chronic myelogenous leukemia	3	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	57
HP:0001881	HP:0004808	Acute myeloid leukemia	3	JAK2 CL E G H	3717	6192	OMIM:601626	Leukemia, acute myeloid	.	57
HP:0001881	HP:0001888	Lymphopenia	3	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0001881	HP:0011839	Abnormal T cell count	3	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0001881	HP:0001888	Lymphopenia	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040282 - Frequent	140
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0001881	HP:0010975	Abnormal B cell count	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0001881	HP:0011839	Abnormal T cell count	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0001881	HP:0100494	Abnormal mast cell morphology	3	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis		327
HP:0001881	HP:0004808	Acute myeloid leukemia	3	KIT CL E G H	3815	6342	OMIM:601626	Leukemia, acute myeloid	.	327
HP:0001881	HP:0100494	Abnormal mast cell morphology	3	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous		327
HP:0001881	HP:0100494	Abnormal mast cell morphology	3	KIT CL E G H	3815	6342	ORPHA:280794	Pseudoxanthomatous diffuse cutaneous mastocytosis		327
HP:0001881	HP:0001874	Abnormality of neutrophils	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0001880	Eosinophilia	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0001881	HP:0001912	Abnormal basophil morphology	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0100494	Abnormal mast cell morphology	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040281 - Very frequent	327
HP:0001881	HP:0020064	Abnormal eosinophil count	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0004808	Acute myeloid leukemia	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0001881	HP:0005550	Chronic lymphatic leukemia	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040284 - Very rare	327
HP:0001881	HP:0011991	Abnormal neutrophil count	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0012325	Chronic myelomonocytic leukemia	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0001881	HP:0031806	Abnormal basophil count	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0032309	Abnormal granulocyte count	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0001888	Lymphopenia	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001881	HP:0010975	Abnormal B cell count	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001881	HP:0011839	Abnormal T cell count	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001881	HP:0004808	Acute myeloid leukemia	3	KRAS CL E G H	3845	6407	OMIM:601626	Leukemia, acute myeloid	.	196
HP:0001881	HP:0012209	Juvenile myelomonocytic leukemia	3	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0001881	HP:0001874	Abnormality of neutrophils	3	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0001881	HP:0100827	Lymphocytosis	3	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0001881	HP:0011991	Abnormal neutrophil count	3	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0001881	HP:0012310	Abnormal monocyte count	3	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0001881	HP:0012311	Monocytosis	3	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0001881	HP:0032309	Abnormal granulocyte count	3	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0001881	HP:0001874	Abnormality of neutrophils	3	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	279
HP:0001881	HP:0001874	Abnormality of neutrophils	3	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency		1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency		1
HP:0001881	HP:0001888	Lymphopenia	3	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0001881	HP:0011839	Abnormal T cell count	3	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0001881	HP:0001874	Abnormality of neutrophils	3	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001881	HP:0011991	Abnormal neutrophil count	3	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001881	HP:0032309	Abnormal granulocyte count	3	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001881	HP:0001874	Abnormality of neutrophils	3	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001881	HP:0001888	Lymphopenia	3	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0001881	HP:0011839	Abnormal T cell count	3	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0010975	Abnormal B cell count	3	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0011839	Abnormal T cell count	3	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0001874	Abnormality of neutrophils	3	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	286
HP:0001881	HP:0001888	Lymphopenia	3	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0001881	HP:0011839	Abnormal T cell count	3	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0001881	HP:0001888	Lymphopenia	3	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0001881	HP:0011839	Abnormal T cell count	3	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0001881	HP:0011839	Abnormal T cell count	3	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0001881	HP:0001874	Abnormality of neutrophils	3	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome		88
HP:0001881	HP:0001880	Eosinophilia	3	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	88
HP:0001881	HP:0020064	Abnormal eosinophil count	3	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome		88
HP:0001881	HP:0032309	Abnormal granulocyte count	3	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome		88
HP:0001881	HP:0004333	Bone-marrow foam cells	3	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency	.	73
HP:0001881	HP:0004333	Bone-marrow foam cells	3	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040283 - Occasional	73
HP:0001881	HP:0001874	Abnormality of neutrophils	3	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0001881	HP:0011991	Abnormal neutrophil count	3	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0001881	HP:0032309	Abnormal granulocyte count	3	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0001881	HP:0001874	Abnormality of neutrophils	3	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0001881	HP:0011991	Abnormal neutrophil count	3	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0001881	HP:0032309	Abnormal granulocyte count	3	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0001881	HP:0001874	Abnormality of neutrophils	3	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	645
HP:0001881	HP:0100827	Lymphocytosis	3	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040282 - Frequent	11
HP:0001881	HP:0004808	Acute myeloid leukemia	3	LPP CL E G H	4026	6679	OMIM:601626	Leukemia, acute myeloid	.	1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0001888	Lymphopenia	3	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0010975	Abnormal B cell count	3	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0011991	Abnormal neutrophil count	3	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0032309	Abnormal granulocyte count	3	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0001874	Abnormality of neutrophils	3	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0005550	Chronic lymphatic leukemia	3	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0001881	HP:0001874	Abnormality of neutrophils	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0001881	HP:0100494	Abnormal mast cell morphology	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0001881	HP:0011991	Abnormal neutrophil count	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0001881	HP:0012156	Hemophagocytosis	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040281 - Very frequent	239
HP:0001881	HP:0032309	Abnormal granulocyte count	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0001881	HP:0001874	Abnormality of neutrophils	3	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001881	HP:0011991	Abnormal neutrophil count	3	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001881	HP:0012156	Hemophagocytosis	3	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001881	HP:0032309	Abnormal granulocyte count	3	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0001881	HP:0001888	Lymphopenia	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:0001881	HP:0011839	Abnormal T cell count	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:0001881	HP:0012209	Juvenile myelomonocytic leukemia	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0001881	HP:0004808	Acute myeloid leukemia	3	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0001881	HP:0001888	Lymphopenia	3	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001881	HP:0010975	Abnormal B cell count	3	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001881	HP:0011839	Abnormal T cell count	3	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0001881	HP:0004808	Acute myeloid leukemia	3	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0001881	HP:0001888	Lymphopenia	3	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0001881	HP:0011991	Abnormal neutrophil count	3	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0001881	HP:0032309	Abnormal granulocyte count	3	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0001881	HP:0011991	Abnormal neutrophil count	3	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0001881	HP:0032309	Abnormal granulocyte count	3	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0001881	HP:0004808	Acute myeloid leukemia	3	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040283 - Occasional	281
HP:0001881	HP:0005550	Chronic lymphatic leukemia	3	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040284 - Very rare	281
HP:0001881	HP:0011991	Abnormal neutrophil count	3	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0001881	HP:0032309	Abnormal granulocyte count	3	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0001881	HP:0004808	Acute myeloid leukemia	3	MLLT10 CL E G H	8028	16063	OMIM:601626	Leukemia, acute myeloid	.
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0001881	HP:0011991	Abnormal neutrophil count	3	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0001881	HP:0032309	Abnormal granulocyte count	3	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0001881	HP:0011991	Abnormal neutrophil count	3	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0001881	HP:0032309	Abnormal granulocyte count	3	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0001881	HP:0011991	Abnormal neutrophil count	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0001881	HP:0032309	Abnormal granulocyte count	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0001881	HP:0011991	Abnormal neutrophil count	3	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0001881	HP:0032309	Abnormal granulocyte count	3	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001881	HP:0011991	Abnormal neutrophil count	3	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001881	HP:0032309	Abnormal granulocyte count	3	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0001881	HP:0011991	Abnormal neutrophil count	3	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0001881	HP:0032309	Abnormal granulocyte count	3	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0001881	HP:0011991	Abnormal neutrophil count	3	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0001881	HP:0032309	Abnormal granulocyte count	3	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0001881	HP:0004808	Acute myeloid leukemia	3	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	97
HP:0001881	HP:0005506	Chronic myelogenous leukemia	3	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	97
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0001881	HP:0011991	Abnormal neutrophil count	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0001881	HP:0032309	Abnormal granulocyte count	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0001881	HP:0001888	Lymphopenia	3	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0001881	HP:0001888	Lymphopenia	3	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50	.	2
HP:0001881	HP:0011991	Abnormal neutrophil count	3	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0001881	HP:0032309	Abnormal granulocyte count	3	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0001881	HP:0001888	Lymphopenia	3	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0001881	HP:0011991	Abnormal neutrophil count	3	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0001881	HP:0032309	Abnormal granulocyte count	3	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0001881	HP:0011991	Abnormal neutrophil count	3	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0001881	HP:0032309	Abnormal granulocyte count	3	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1143
HP:0001881	HP:0001888	Lymphopenia	3	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0001881	HP:0011839	Abnormal T cell count	3	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0001881	HP:0001888	Lymphopenia	3	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0001881	HP:0010975	Abnormal B cell count	3	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040282 - Frequent	9
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	452
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1269
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease		297
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	217
HP:0001881	HP:0001874	Abnormality of neutrophils	3	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001881	HP:0001888	Lymphopenia	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:0001881	HP:0010975	Abnormal B cell count	3	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001881	HP:0011991	Abnormal neutrophil count	3	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001881	HP:0032309	Abnormal granulocyte count	3	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001881	HP:0001874	Abnormality of neutrophils	3	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0011991	Abnormal neutrophil count	3	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0032309	Abnormal granulocyte count	3	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0001874	Abnormality of neutrophils	3	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	NBN CL E G H	4683	7652	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	706
HP:0001881	HP:0001888	Lymphopenia	3	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0001881	HP:0010975	Abnormal B cell count	3	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0001881	HP:0011839	Abnormal T cell count	3	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0001881	HP:0001874	Abnormality of neutrophils	3	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	13
HP:0001881	HP:0001874	Abnormality of neutrophils	3	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I		13
HP:0001881	HP:0002955	Granulomatosis	3	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.	13
HP:0001881	HP:0001874	Abnormality of neutrophils	3	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	67
HP:0001881	HP:0001874	Abnormality of neutrophils	3	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II		67
HP:0001881	HP:0002955	Granulomatosis	3	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.	67
HP:0001881	HP:0001874	Abnormality of neutrophils	3	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	37
HP:0001881	HP:0100827	Lymphocytosis	3	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001881	HP:0010975	Abnormal B cell count	3	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001881	HP:0011839	Abnormal T cell count	3	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001881	HP:0001874	Abnormality of neutrophils	3	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0001881	HP:0004333	Bone-marrow foam cells	3	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0001881	HP:0001874	Abnormality of neutrophils	3	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	167
HP:0001881	HP:0012209	Juvenile myelomonocytic leukemia	3	NF1 CL E G H	4763	7765	OMIM:607785	Juvenile myelomonocytic leukemia	.	1952
HP:0001881	HP:0001888	Lymphopenia	3	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	7
HP:0001881	HP:0001888	Lymphopenia	3	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	11
HP:0001881	HP:0001888	Lymphopenia	3	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0001881	HP:0010975	Abnormal B cell count	3	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0001881	HP:0001888	Lymphopenia	3	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0001881	HP:0010975	Abnormal B cell count	3	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0001881	HP:0011839	Abnormal T cell count	3	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0001881	HP:0001874	Abnormality of neutrophils	3	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	27
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001881	HP:0001880	Eosinophilia	3	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001881	HP:0020064	Abnormal eosinophil count	3	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001881	HP:0032309	Abnormal granulocyte count	3	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001881	HP:0001874	Abnormality of neutrophils	3	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent	217
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001881	HP:0001880	Eosinophilia	3	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001881	HP:0020064	Abnormal eosinophil count	3	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001881	HP:0032309	Abnormal granulocyte count	3	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001881	HP:0001874	Abnormality of neutrophils	3	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	17
HP:0001881	HP:0001982	Sea-blue histiocytosis	3	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0001881	HP:0004333	Bone-marrow foam cells	3	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.	258
HP:0001881	HP:0001982	Sea-blue histiocytosis	3	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33
HP:0001881	HP:0004333	Bone-marrow foam cells	3	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33
HP:0001881	HP:0001874	Abnormality of neutrophils	3	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0011991	Abnormal neutrophil count	3	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0032309	Abnormal granulocyte count	3	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0001874	Abnormality of neutrophils	3	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	12
HP:0001881	HP:0004808	Acute myeloid leukemia	3	NPM1 CL E G H	4869	7910	OMIM:601626	Leukemia, acute myeloid	.	12
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001881	HP:0001888	Lymphopenia	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001881	HP:0020064	Abnormal eosinophil count	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001881	HP:0032309	Abnormal granulocyte count	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001881	HP:0012209	Juvenile myelomonocytic leukemia	3	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6	.	102
HP:0001881	HP:0001874	Abnormality of neutrophils	3	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0001881	HP:0100827	Lymphocytosis	3	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0001881	HP:0011991	Abnormal neutrophil count	3	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0001881	HP:0012310	Abnormal monocyte count	3	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0001881	HP:0012311	Monocytosis	3	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0001881	HP:0032309	Abnormal granulocyte count	3	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0001881	HP:0001888	Lymphopenia	3	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0001881	HP:0011839	Abnormal T cell count	3	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0001881	HP:0001874	Abnormality of neutrophils	3	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0001881	HP:0001874	Abnormality of neutrophils	3	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0004836	Acute promyelocytic leukemia	3	NUMA1 CL E G H	4926	8059	OMIM:612376	Acute promyelocytic leukemia	.
HP:0001881	HP:0011991	Abnormal neutrophil count	3	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0032309	Abnormal granulocyte count	3	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	NUP214 CL E G H	8021	8064	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	1
HP:0001881	HP:0004808	Acute myeloid leukemia	3	NUP214 CL E G H	8021	8064	OMIM:601626	Leukemia, acute myeloid	.	1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0011839	Abnormal T cell count	3	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0001881	HP:0011991	Abnormal neutrophil count	3	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	26
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0001881	HP:0011991	Abnormal neutrophil count	3	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0001881	HP:0011991	Abnormal neutrophil count	3	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0001881	HP:0001880	Eosinophilia	3	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0001881	HP:0020064	Abnormal eosinophil count	3	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0001881	HP:0001880	Eosinophilia	3	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia	.	28
HP:0001881	HP:0020064	Abnormal eosinophil count	3	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0001880	Eosinophilia	3	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0001888	Lymphopenia	3	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0020064	Abnormal eosinophil count	3	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0011991	Abnormal neutrophil count	3	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0001880	Eosinophilia	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0001881	HP:0001888	Lymphopenia	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0001881	HP:0020064	Abnormal eosinophil count	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0011839	Abnormal T cell count	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0011991	Abnormal neutrophil count	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0001888	Lymphopenia	3	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0001881	HP:0004808	Acute myeloid leukemia	3	PICALM CL E G H	8301	15514	OMIM:601626	Leukemia, acute myeloid	.	3
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0001881	HP:0001888	Lymphopenia	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001881	HP:0010975	Abnormal B cell count	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001881	HP:0011839	Abnormal T cell count	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001881	HP:0001888	Lymphopenia	3	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001881	HP:0010975	Abnormal B cell count	3	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001881	HP:0011839	Abnormal T cell count	3	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0001888	Lymphopenia	3	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0010975	Abnormal B cell count	3	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0011991	Abnormal neutrophil count	3	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0012310	Abnormal monocyte count	3	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0012311	Monocytosis	3	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0001880	Eosinophilia	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0001888	Lymphopenia	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0020064	Abnormal eosinophil count	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0011839	Abnormal T cell count	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0011991	Abnormal neutrophil count	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0012156	Hemophagocytosis	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0012310	Abnormal monocyte count	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0012312	Monocytopenia	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0001881	HP:0011991	Abnormal neutrophil count	3	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0001881	HP:0011991	Abnormal neutrophil count	3	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0001881	HP:0001888	Lymphopenia	3	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	.	43
HP:0001881	HP:0005550	Chronic lymphatic leukemia	3	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	HP:0040284 - Very rare	43
HP:0001881	HP:0010975	Abnormal B cell count	3	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0011839	Abnormal T cell count	3	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0010975	Abnormal B cell count	3	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	57
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0001888	Lymphopenia	3	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0011991	Abnormal neutrophil count	3	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0001888	Lymphopenia	3	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040283 - Occasional	52
HP:0001881	HP:0011839	Abnormal T cell count	3	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0001888	Lymphopenia	3	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001881	HP:0010975	Abnormal B cell count	3	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001881	HP:0011839	Abnormal T cell count	3	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001881	HP:0011991	Abnormal neutrophil count	3	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	148
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001881	HP:0011991	Abnormal neutrophil count	3	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0001881	HP:0011991	Abnormal neutrophil count	3	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0001881	HP:0012156	Hemophagocytosis	3	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	58
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0001881	HP:0012156	Hemophagocytosis	3	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0001881	HP:0011991	Abnormal neutrophil count	3	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0001881	HP:0001888	Lymphopenia	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001881	HP:0010975	Abnormal B cell count	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0001881	HP:0011991	Abnormal neutrophil count	3	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0001880	Eosinophilia	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0001881	HP:0001888	Lymphopenia	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0001881	HP:0100827	Lymphocytosis	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0001881	HP:0020064	Abnormal eosinophil count	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0010975	Abnormal B cell count	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0011839	Abnormal T cell count	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0011991	Abnormal neutrophil count	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0032309	Abnormal granulocyte count	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0100827	Lymphocytosis	3	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001881	HP:0010975	Abnormal B cell count	3	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001881	HP:0001888	Lymphopenia	3	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0001881	HP:0002955	Granulomatosis	3	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	241
HP:0001881	HP:0001874	Abnormality of neutrophils	3	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	59
HP:0001881	HP:0001888	Lymphopenia	3	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0001881	HP:0001888	Lymphopenia	3	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0001881	HP:0001888	Lymphopenia	3	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	HP:0040284 - Very rare	948
HP:0001881	HP:0001888	Lymphopenia	3	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	HP:0040284 - Very rare	948
HP:0001881	HP:0012209	Juvenile myelomonocytic leukemia	3	PTPN11 CL E G H	5781	9644	OMIM:607785	Juvenile myelomonocytic leukemia	.	291
HP:0001881	HP:0012209	Juvenile myelomonocytic leukemia	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0001881	HP:0002955	Granulomatosis	3	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	3
HP:0001881	HP:0001888	Lymphopenia	3	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001881	HP:0100827	Lymphocytosis	3	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001881	HP:0010975	Abnormal B cell count	3	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001881	HP:0011839	Abnormal T cell count	3	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0001881	HP:0012156	Hemophagocytosis	3	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040281 - Very frequent	67
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0001881	HP:0012156	Hemophagocytosis	3	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0001888	Lymphopenia	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0010975	Abnormal B cell count	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0011839	Abnormal T cell count	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0012310	Abnormal monocyte count	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0012312	Monocytopenia	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0001888	Lymphopenia	3	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0001881	HP:0010975	Abnormal B cell count	3	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0001881	HP:0011839	Abnormal T cell count	3	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RAC2 CL E G H	5880	9802	ORPHA:183707	Neutrophil immunodeficiency syndrome		9
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0011839	Abnormal T cell count	3	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	212
HP:0001881	HP:0001888	Lymphopenia	3	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0001881	HP:0010975	Abnormal B cell count	3	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0001881	HP:0011839	Abnormal T cell count	3	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0001888	Lymphopenia	3	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0010975	Abnormal B cell count	3	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0011839	Abnormal T cell count	3	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome		127
HP:0001881	HP:0001880	Eosinophilia	3	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0001881	HP:0001880	Eosinophilia	3	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	127
HP:0001881	HP:0001888	Lymphopenia	3	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0001881	HP:0020064	Abnormal eosinophil count	3	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0001881	HP:0020064	Abnormal eosinophil count	3	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome		127
HP:0001881	HP:0010975	Abnormal B cell count	3	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome		127
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0001881	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:0001881	HP:0001888	Lymphopenia	3	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0001881	HP:0020064	Abnormal eosinophil count	3	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	127
HP:0001881	HP:0010975	Abnormal B cell count	3	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	127
HP:0001881	HP:0011839	Abnormal T cell count	3	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	127
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0001881	HP:0001888	Lymphopenia	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:0001881	HP:0010975	Abnormal B cell count	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:0001881	HP:0011839	Abnormal T cell count	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:0001881	HP:0001888	Lymphopenia	3	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0001881	HP:0010975	Abnormal B cell count	3	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0001881	HP:0011839	Abnormal T cell count	3	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome		50
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0001881	HP:0001880	Eosinophilia	3	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	50
HP:0001881	HP:0001880	Eosinophilia	3	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0001881	HP:0001888	Lymphopenia	3	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0001881	HP:0020064	Abnormal eosinophil count	3	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome		50
HP:0001881	HP:0020064	Abnormal eosinophil count	3	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0001881	HP:0010975	Abnormal B cell count	3	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome		50
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0001881	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:0001881	HP:0001888	Lymphopenia	3	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0001881	HP:0020064	Abnormal eosinophil count	3	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	50
HP:0001881	HP:0010975	Abnormal B cell count	3	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	50
HP:0001881	HP:0011839	Abnormal T cell count	3	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	50
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0001881	HP:0001888	Lymphopenia	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:0001881	HP:0010975	Abnormal B cell count	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:0001881	HP:0011839	Abnormal T cell count	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:0001881	HP:0001874	Abnormality of neutrophils	3	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0001881	HP:0004836	Acute promyelocytic leukemia	3	RARA CL E G H	5914	9864	OMIM:612376	Acute promyelocytic leukemia	.	2
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0001880	Eosinophilia	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0001881	HP:0001888	Lymphopenia	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0001881	HP:0100827	Lymphocytosis	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0001881	HP:0020064	Abnormal eosinophil count	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0010975	Abnormal B cell count	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0011839	Abnormal T cell count	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0010975	Abnormal B cell count	3	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001881	HP:0011839	Abnormal T cell count	3	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	363
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001881	HP:0001880	Eosinophilia	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001881	HP:0020064	Abnormal eosinophil count	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0001881	HP:0001888	Lymphopenia	3	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001881	HP:0100827	Lymphocytosis	3	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001881	HP:0010975	Abnormal B cell count	3	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0001881	HP:0001888	Lymphopenia	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0001881	HP:0011839	Abnormal T cell count	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0001881	HP:0001888	Lymphopenia	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0001881	HP:0011839	Abnormal T cell count	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0001881	HP:0001888	Lymphopenia	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0001881	HP:0011839	Abnormal T cell count	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0001881	HP:0001888	Lymphopenia	3	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001881	HP:0010975	Abnormal B cell count	3	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001881	HP:0011839	Abnormal T cell count	3	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0001881	HP:0001888	Lymphopenia	3	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome		37
HP:0001881	HP:0001880	Eosinophilia	3	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	37
HP:0001881	HP:0020064	Abnormal eosinophil count	3	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome		37
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome		37
HP:0001881	HP:0005550	Chronic lymphatic leukemia	3	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	33
HP:0001881	HP:0005550	Chronic lymphatic leukemia	3	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	34
HP:0001881	HP:0100827	Lymphocytosis	3	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2	.	34
HP:0001881	HP:0005550	Chronic lymphatic leukemia	3	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	60
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0001881	HP:0001880	Eosinophilia	3	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0001881	HP:0001880	Eosinophilia	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0001881	HP:0020064	Abnormal eosinophil count	3	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0001881	HP:0020064	Abnormal eosinophil count	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0001881	HP:0005550	Chronic lymphatic leukemia	3	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0001881	HP:0001888	Lymphopenia	3	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0001881	HP:0011839	Abnormal T cell count	3	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040283 - Occasional
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001913	Granulocytopenia	3	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.	1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0001881	HP:0001888	Lymphopenia	3	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	77
HP:0001881	HP:0001874	Abnormality of neutrophils	3	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis		181
HP:0001881	HP:0100494	Abnormal mast cell morphology	3	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040281 - Very frequent	181
HP:0001881	HP:0011991	Abnormal neutrophil count	3	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis		181
HP:0001881	HP:0032309	Abnormal granulocyte count	3	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis		181
HP:0001881	HP:0001912	Abnormal basophil morphology	3	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	181
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RUNX1 CL E G H	861	10471	OMIM:601626	Leukemia, acute myeloid	.	181
HP:0001881	HP:0004808	Acute myeloid leukemia	3	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy		181
HP:0001881	HP:0004845	Acute monocytic leukemia	3	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy	.	181
HP:0001881	HP:0001888	Lymphopenia	3	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0001881	HP:0004808	Acute myeloid leukemia	3	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040282 - Frequent	4
HP:0001881	HP:0004820	Acute myelomonocytic leukemia	3	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040282 - Frequent	4
HP:0001881	HP:0004820	Acute myelomonocytic leukemia	3	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.	4
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001881	HP:0004808	Acute myeloid leukemia	3	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7		4
HP:0001881	HP:0005550	Chronic lymphatic leukemia	3	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	55
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0001888	Lymphopenia	3	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0010975	Abnormal B cell count	3	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0011839	Abnormal T cell count	3	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0001881	HP:0004808	Acute myeloid leukemia	3	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	26
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0001881	HP:0004808	Acute myeloid leukemia	3	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1134
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	304
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5		2
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5		2
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5		2
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0001881	HP:0001913	Granulocytopenia	3	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0001881	HP:0004808	Acute myeloid leukemia	3	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	223
HP:0001881	HP:0001888	Lymphopenia	3	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.	8
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001881	HP:0100827	Lymphocytosis	3	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	37
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001881	HP:0012156	Hemophagocytosis	3	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001881	HP:0004808	Acute myeloid leukemia	3	SH3GL1 CL E G H	6455	10830	OMIM:601626	Leukemia, acute myeloid	.
HP:0001881	HP:0001888	Lymphopenia	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0001881	HP:0001888	Lymphopenia	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome		26
HP:0001881	HP:0001880	Eosinophilia	3	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome	HP:0040281 - Very frequent	26
HP:0001881	HP:0020064	Abnormal eosinophil count	3	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome		26
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome		26
HP:0001881	HP:0100727	Histiocytosis	3	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040281 - Very frequent	68
HP:0001881	HP:0100727	Histiocytosis	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG		24
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG		24
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG		24
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0001881	HP:0001888	Lymphopenia	3	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001881	HP:0010975	Abnormal B cell count	3	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary		101
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary		101
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary		101
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0001881	HP:0001880	Eosinophilia	3	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040283 - Occasional	101
HP:0001881	HP:0020064	Abnormal eosinophil count	3	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0001881	HP:0012156	Hemophagocytosis	3	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0001881	HP:0012156	Hemophagocytosis	3	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0001881	HP:0001888	Lymphopenia	3	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0001881	HP:0001888	Lymphopenia	3	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0001881	HP:0011839	Abnormal T cell count	3	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0001881	HP:0004836	Acute promyelocytic leukemia	3	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164
HP:0001881	HP:0001982	Sea-blue histiocytosis	3	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.	164
HP:0001881	HP:0004333	Bone-marrow foam cells	3	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.	164
HP:0001881	HP:0001982	Sea-blue histiocytosis	3	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164
HP:0001881	HP:0004333	Bone-marrow foam cells	3	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164
HP:0001881	HP:0010975	Abnormal B cell count	3	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0001881	HP:0001888	Lymphopenia	3	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040284 - Very rare	49
HP:0001881	HP:0010975	Abnormal B cell count	3	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0001881	HP:0011839	Abnormal T cell count	3	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0001888	Lymphopenia	3	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0010975	Abnormal B cell count	3	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001881	HP:0001880	Eosinophilia	3	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001881	HP:0020064	Abnormal eosinophil count	3	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001881	HP:0001888	Lymphopenia	3	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0001881	HP:0004845	Acute monocytic leukemia	3	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0001881	HP:0001888	Lymphopenia	3	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0001881	HP:0001880	Eosinophilia	3	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0001881	HP:0020064	Abnormal eosinophil count	3	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0001880	Eosinophilia	3	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0001881	HP:0001888	Lymphopenia	3	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0001881	HP:0020064	Abnormal eosinophil count	3	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0004808	Acute myeloid leukemia	3	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0012310	Abnormal monocyte count	3	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0012311	Monocytosis	3	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001881	HP:0004808	Acute myeloid leukemia	3	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001881	HP:0004808	Acute myeloid leukemia	3	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis		1
HP:0001881	HP:0100494	Abnormal mast cell morphology	3	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040281 - Very frequent	1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0001880	Eosinophilia	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0001881	HP:0001912	Abnormal basophil morphology	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0100494	Abnormal mast cell morphology	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040281 - Very frequent	1
HP:0001881	HP:0020064	Abnormal eosinophil count	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0004808	Acute myeloid leukemia	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0001881	HP:0005550	Chronic lymphatic leukemia	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040284 - Very rare	1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0012325	Chronic myelomonocytic leukemia	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0001881	HP:0031806	Abnormal basophil count	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0001881	HP:0001888	Lymphopenia	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0001881	HP:0010975	Abnormal B cell count	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0001881	HP:0011991	Abnormal neutrophil count	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0001881	HP:0032309	Abnormal granulocyte count	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0001881	HP:0001888	Lymphopenia	3	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	.	89
HP:0001881	HP:0001888	Lymphopenia	3	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0001881	HP:0001874	Abnormality of neutrophils	3	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0001881	HP:0011991	Abnormal neutrophil count	3	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0001881	HP:0032309	Abnormal granulocyte count	3	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0001881	HP:0001874	Abnormality of neutrophils	3	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0001881	HP:0011991	Abnormal neutrophil count	3	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0001881	HP:0032309	Abnormal granulocyte count	3	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0001881	HP:0001880	Eosinophilia	3	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent	110
HP:0001881	HP:0020064	Abnormal eosinophil count	3	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0001881	HP:0032309	Abnormal granulocyte count	3	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0001881	HP:0001880	Eosinophilia	3	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0001881	HP:0020064	Abnormal eosinophil count	3	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0001881	HP:0032309	Abnormal granulocyte count	3	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0001881	HP:0001888	Lymphopenia	3	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent	2
HP:0001881	HP:0001874	Abnormality of neutrophils	3	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0011991	Abnormal neutrophil count	3	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0032309	Abnormal granulocyte count	3	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0001888	Lymphopenia	3	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0001881	HP:0001874	Abnormality of neutrophils	3	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0001881	HP:0001888	Lymphopenia	3	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS	.	4
HP:0001881	HP:0011991	Abnormal neutrophil count	3	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0001881	HP:0032309	Abnormal granulocyte count	3	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0001881	HP:0001874	Abnormality of neutrophils	3	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0001881	HP:0011991	Abnormal neutrophil count	3	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0001881	HP:0012156	Hemophagocytosis	3	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	85
HP:0001881	HP:0032309	Abnormal granulocyte count	3	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0001881	HP:0001874	Abnormality of neutrophils	3	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001881	HP:0011991	Abnormal neutrophil count	3	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001881	HP:0012156	Hemophagocytosis	3	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001881	HP:0032309	Abnormal granulocyte count	3	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001881	HP:0001874	Abnormality of neutrophils	3	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0001881	HP:0011991	Abnormal neutrophil count	3	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0001881	HP:0012156	Hemophagocytosis	3	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	70
HP:0001881	HP:0032309	Abnormal granulocyte count	3	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0001881	HP:0012156	Hemophagocytosis	3	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0001881	HP:0001888	Lymphopenia	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001881	HP:0010975	Abnormal B cell count	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001881	HP:0011839	Abnormal T cell count	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome	HP:0040282 - Frequent
HP:0001881	HP:0001913	Granulocytopenia	3	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	TAL1 CL E G H	6886	11556	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	TAL2 CL E G H	6887	11557	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis		20
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis		20
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis		20
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0001881	HP:0001880	Eosinophilia	3	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0001881	HP:0020064	Abnormal eosinophil count	3	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	78
HP:0001881	HP:0001888	Lymphopenia	3	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0001881	HP:0010975	Abnormal B cell count	3	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0001881	HP:0001888	Lymphopenia	3	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0010975	Abnormal B cell count	3	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0011839	Abnormal T cell count	3	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0001880	Eosinophilia	3	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0001881	HP:0001888	Lymphopenia	3	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	82
HP:0001881	HP:0020064	Abnormal eosinophil count	3	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0004808	Acute myeloid leukemia	3	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0012310	Abnormal monocyte count	3	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0012311	Monocytosis	3	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	82
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0001881	HP:0001888	Lymphopenia	3	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040282 - Frequent	57
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23		3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	48
HP:0001881	HP:0001888	Lymphopenia	3	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	48
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	238
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0001881	HP:0001888	Lymphopenia	3	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	238
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0001881	HP:0004808	Acute myeloid leukemia	3	TERT CL E G H	7015	11730	OMIM:601626	Leukemia, acute myeloid	.	238
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0001881	HP:0001913	Granulocytopenia	3	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0001881	HP:0004808	Acute myeloid leukemia	3	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis		3
HP:0001881	HP:0100494	Abnormal mast cell morphology	3	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040281 - Very frequent	3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis		3
HP:0001881	HP:0010975	Abnormal B cell count	3	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia		3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0001880	Eosinophilia	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0001881	HP:0001912	Abnormal basophil morphology	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0100494	Abnormal mast cell morphology	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040281 - Very frequent	3
HP:0001881	HP:0020064	Abnormal eosinophil count	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0004808	Acute myeloid leukemia	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0001881	HP:0005550	Chronic lymphatic leukemia	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040284 - Very rare	3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0012325	Chronic myelomonocytic leukemia	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0001881	HP:0031806	Abnormal basophil count	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0001881	HP:0001888	Lymphopenia	3	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.	67
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0001881	HP:0004808	Acute myeloid leukemia	3	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	23
HP:0001881	HP:0005506	Chronic myelogenous leukemia	3	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	23
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis		6
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis		6
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis		6
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	60
HP:0001881	HP:0001888	Lymphopenia	3	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	60
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis		3
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis		3
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis		3
HP:0001881	HP:0001888	Lymphopenia	3	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0001888	Lymphopenia	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0001913	Granulocytopenia	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0010975	Abnormal B cell count	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0012156	Hemophagocytosis	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	136
HP:0001881	HP:0001888	Lymphopenia	3	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0001881	HP:0001888	Lymphopenia	3	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0001881	HP:0001888	Lymphopenia	3	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	12
HP:0001881	HP:0001888	Lymphopenia	3	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	73
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	180
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	248
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001881	HP:0001888	Lymphopenia	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0001881	HP:0010975	Abnormal B cell count	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001881	HP:0001888	Lymphopenia	3	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0040089	Abnormal natural killer cell count	3	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0010975	Abnormal B cell count	3	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0011839	Abnormal T cell count	3	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001881	HP:0001888	Lymphopenia	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001881	HP:0020064	Abnormal eosinophil count	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001881	HP:0004808	Acute myeloid leukemia	3	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	230
HP:0001881	HP:0001888	Lymphopenia	3	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0040281 - Very frequent
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0001881	HP:0001880	Eosinophilia	3	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0001881	HP:0020064	Abnormal eosinophil count	3	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis		2
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis		2
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis		2
HP:0001881	HP:0005550	Chronic lymphatic leukemia	3	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	56
HP:0001881	HP:0006721	Acute lymphoblastic leukemia	3	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0001881	HP:0001888	Lymphopenia	3	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0001881	HP:0010975	Abnormal B cell count	3	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0004808	Acute myeloid leukemia	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001888	Lymphopenia	3	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0001881	HP:0001888	Lymphopenia	3	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	7128
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	85
HP:0001881	HP:0001874	Abnormality of neutrophils	3	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0001881	HP:0011991	Abnormal neutrophil count	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0001881	HP:0032309	Abnormal granulocyte count	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0001881	HP:0001888	Lymphopenia	3	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0010975	Abnormal B cell count	3	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0011839	Abnormal T cell count	3	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0001874	Abnormality of neutrophils	3	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0001881	HP:0011991	Abnormal neutrophil count	3	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0001881	HP:0012156	Hemophagocytosis	3	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	116
HP:0001881	HP:0032309	Abnormal granulocyte count	3	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0001881	HP:0001913	Granulocytopenia	3	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0001881	HP:0012156	Hemophagocytosis	3	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0001881	HP:0032309	Abnormal granulocyte count	3	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0001881	HP:0001874	Abnormality of neutrophils	3	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis		5
HP:0001881	HP:0011991	Abnormal neutrophil count	3	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis		5
HP:0001881	HP:0032309	Abnormal granulocyte count	3	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis		5
HP:0001881	HP:0001874	Abnormality of neutrophils	3	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	8
HP:0001881	HP:0001874	Abnormality of neutrophils	3	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0001881	HP:0011991	Abnormal neutrophil count	3	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0001881	HP:0032309	Abnormal granulocyte count	3	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001881	HP:0001888	Lymphopenia	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001881	HP:0020064	Abnormal eosinophil count	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001881	HP:0001888	Lymphopenia	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001881	HP:0020064	Abnormal eosinophil count	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001881	HP:0032309	Abnormal granulocyte count	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001881	HP:0001874	Abnormality of neutrophils	3	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	248
HP:0001881	HP:0001874	Abnormality of neutrophils	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0001881	HP:0001874	Abnormality of neutrophils	3	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0001881	HP:0011991	Abnormal neutrophil count	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0001881	HP:0011991	Abnormal neutrophil count	3	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0001881	HP:0032309	Abnormal granulocyte count	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0001881	HP:0032309	Abnormal granulocyte count	3	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0001881	HP:0001874	Abnormality of neutrophils	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0001881	HP:0011991	Abnormal neutrophil count	3	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0001881	HP:0032309	Abnormal granulocyte count	3	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0001881	HP:0001874	Abnormality of neutrophils	3	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0011839	Abnormal T cell count	3	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0011991	Abnormal neutrophil count	3	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0012310	Abnormal monocyte count	3	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0012312	Monocytopenia	3	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0032309	Abnormal granulocyte count	3	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0001874	Abnormality of neutrophils	3	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	65
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0001880	Eosinophilia	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0001888	Lymphopenia	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0001881	HP:0001888	Lymphopenia	3	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	65
HP:0001881	HP:0020064	Abnormal eosinophil count	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0011839	Abnormal T cell count	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0011991	Abnormal neutrophil count	3	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0032309	Abnormal granulocyte count	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0032309	Abnormal granulocyte count	3	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0001874	Abnormality of neutrophils	3	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0001881	HP:0011991	Abnormal neutrophil count	3	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0001881	HP:0012310	Abnormal monocyte count	3	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0001881	HP:0012312	Monocytopenia	3	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia	HP:0040281 - Very frequent	65
HP:0001881	HP:0032309	Abnormal granulocyte count	3	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0001881	HP:0001874	Abnormality of neutrophils	3	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0001888	Lymphopenia	3	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0010975	Abnormal B cell count	3	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0011839	Abnormal T cell count	3	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0011991	Abnormal neutrophil count	3	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0032309	Abnormal granulocyte count	3	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0001874	Abnormality of neutrophils	3	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	6
HP:0001881	HP:0001888	Lymphopenia	3	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	6
HP:0001881	HP:0011991	Abnormal neutrophil count	3	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0001881	HP:0032309	Abnormal granulocyte count	3	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0001881	HP:0001888	Lymphopenia	3	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0001881	HP:0011839	Abnormal T cell count	3	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0001881	HP:0001874	Abnormality of neutrophils	3	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	40
HP:0001881	HP:0001874	Abnormality of neutrophils	3	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001881	HP:0100827	Lymphocytosis	3	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	81
HP:0001881	HP:0011991	Abnormal neutrophil count	3	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001881	HP:0012156	Hemophagocytosis	3	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001881	HP:0032309	Abnormal granulocyte count	3	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001881	HP:0012156	Hemophagocytosis	3	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0001881	HP:0001888	Lymphopenia	3	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0001881	HP:0011839	Abnormal T cell count	3	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	HP:0001880	Eosinophilia	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0001881	HP:0001888	Lymphopenia	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	HP:0100827	Lymphocytosis	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0001881	HP:0020064	Abnormal eosinophil count	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	HP:0011839	Abnormal T cell count	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	HP:0001888	Lymphopenia	3	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0001881	HP:0011839	Abnormal T cell count	3	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	9
HP:0001881	HP:0001888	Lymphopenia	3	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	9
HP:0001881	HP:0001879	Abnormal eosinophil morphology	3	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0001881	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:0001881	HP:0020064	Abnormal eosinophil count	3	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0001881	HP:0001874	Abnormality of neutrophils	3	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0011991	Abnormal neutrophil count	3	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0012156	Hemophagocytosis	3	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0012310	Abnormal monocyte count	3	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0012311	Monocytosis	3	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0032309	Abnormal granulocyte count	3	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0011955	Hepatic granulomatosis	4	CL E G H
HP:0001881	HP:0012220	Non-caseating epithelioid cell granulomatosis	4	CL E G H
HP:0001881	HP:0025618	Reduced plasma cell count	4	CL E G H
HP:0001881	HP:0025619	Elevated plasma cell count	4	CL E G H
HP:0001881	HP:0030334	Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology	4	CL E G H
HP:0001881	HP:0032151	Episodic eosinophilia	4	CL E G H
HP:0001881	HP:0032236	Increased circulating immature neutrophil count	4	CL E G H
HP:0001881	HP:0032310	Granulocytosis	4	CL E G H
HP:0001881	HP:0034253	Eosinophil nuclear hypersegmentation	4	CL E G H
HP:0001881	HP:0040138	Mucinous histiocytosis	4	CL E G H
HP:0001881	HP:0100313	Cerebral granulomatosis	4	CL E G H
HP:0001881	HP:0001875	Neutropenia	4	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0001881	HP:0004848	Ph-positive acute lymphoblastic leukemia	4	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid	.	51
HP:0001881	HP:0001875	Neutropenia	4	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001881	HP:0005403	T lymphocytopenia	4	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001881	HP:0001880	Eosinophilia	4	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	75
HP:0001881	HP:0020064	Abnormal eosinophil count	4	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome		75
HP:0001881	HP:0005403	T lymphocytopenia	4	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0001881	HP:0010976	B lymphocytopenia	4	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0001881	HP:0001880	Eosinophilia	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:0001881	HP:0020064	Abnormal eosinophil count	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:0001881	HP:0010976	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:0001881	HP:0001875	Neutropenia	4	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0001875	Neutropenia	4	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0001881	HP:0011991	Abnormal neutrophil count	4	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0001881	HP:0001913	Granulocytopenia	4	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001881	HP:0012234	Agranulocytosis	4	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001881	HP:0010976	B lymphocytopenia	4	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0001881	HP:0001875	Neutropenia	4	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040282 - Frequent	25
HP:0001881	HP:0011991	Abnormal neutrophil count	4	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0001881	HP:0001875	Neutropenia	4	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional	2
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0001881	HP:0001875	Neutropenia	4	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0040218	Reduced natural killer cell count	4	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0011991	Abnormal neutrophil count	4	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0001875	Neutropenia	4	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0001881	HP:0010976	B lymphocytopenia	4	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0001881	HP:0040139	Lipogranulomatosis	4	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.	78
HP:0001881	HP:0001875	Neutropenia	4	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	145
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis		145
HP:0001881	HP:0031408	Increased proportion of CD25+ mast cells	4	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0001881	HP:0001880	Eosinophilia	4	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0001881	HP:0020064	Abnormal eosinophil count	4	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0011897	Neutrophilia	4	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0031806	Abnormal basophil count	4	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001881	HP:0031807	Increased basophil count	4	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0001881	HP:0005403	T lymphocytopenia	4	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0001881	HP:0010976	B lymphocytopenia	4	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0001881	HP:0001875	Neutropenia	4	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome	HP:0040281 - Very frequent	169
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0001881	HP:0020064	Abnormal eosinophil count	4	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001881	HP:0031891	Decreased eosinophil count	4	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001881	HP:0040218	Reduced natural killer cell count	4	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0001881	HP:0010976	B lymphocytopenia	4	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0031806	Abnormal basophil count	4	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0031808	Decreased basophil count	4	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0001881	HP:0001880	Eosinophilia	4	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0001881	HP:0020064	Abnormal eosinophil count	4	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0001881	HP:0001880	Eosinophilia	4	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:0001881	HP:0020064	Abnormal eosinophil count	4	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0001881	HP:0001875	Neutropenia	4	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	101
HP:0001881	HP:0011991	Abnormal neutrophil count	4	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0001881	HP:0004848	Ph-positive acute lymphoblastic leukemia	4	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid	.	5
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0001881	HP:0001875	Neutropenia	4	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive	.	4
HP:0001881	HP:0011991	Abnormal neutrophil count	4	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0001881	HP:0001875	Neutropenia	4	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	4
HP:0001881	HP:0011991	Abnormal neutrophil count	4	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0001881	HP:0020064	Abnormal eosinophil count	4	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001881	HP:0031891	Decreased eosinophil count	4	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001881	HP:0006727	T-cell acute lymphoblastic leukemias	4	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0001881	HP:0001875	Neutropenia	4	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001881	HP:0010976	B lymphocytopenia	4	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001881	HP:0011991	Abnormal neutrophil count	4	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001881	HP:0010976	B lymphocytopenia	4	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0001881	HP:0001875	Neutropenia	4	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040282 - Frequent	109
HP:0001881	HP:0011991	Abnormal neutrophil count	4	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0001881	HP:0001880	Eosinophilia	4	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare	1
HP:0001881	HP:0100828	Increased T cell count	4	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	1
HP:0001881	HP:0020064	Abnormal eosinophil count	4	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001881	HP:0001875	Neutropenia	4	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001881	HP:0001880	Eosinophilia	4	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A	.	323
HP:0001881	HP:0020064	Abnormal eosinophil count	4	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0001881	HP:0020064	Abnormal eosinophil count	4	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0001881	HP:0031891	Decreased eosinophil count	4	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0001881	HP:0005404	Increased B cell count	4	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0001881	HP:0012312	Monocytopenia	4	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0001881	HP:0001880	Eosinophilia	4	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis	.	45
HP:0001881	HP:0020064	Abnormal eosinophil count	4	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis		45
HP:0001881	HP:0001880	Eosinophilia	4	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001881	HP:0020064	Abnormal eosinophil count	4	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001881	HP:0032061	Hypereosinophilia	4	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001881	HP:0001875	Neutropenia	4	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0001875	Neutropenia	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0001880	Eosinophilia	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0001881	HP:0020064	Abnormal eosinophil count	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0005403	T lymphocytopenia	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0005404	Increased B cell count	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0001875	Neutropenia	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0001880	Eosinophilia	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0001881	HP:0020064	Abnormal eosinophil count	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0005404	Increased B cell count	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0001881	HP:0001875	Neutropenia	4	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	317
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis		317
HP:0001881	HP:0031408	Increased proportion of CD25+ mast cells	4	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0001881	HP:0001880	Eosinophilia	4	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0020064	Abnormal eosinophil count	4	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0005403	T lymphocytopenia	4	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0001880	Eosinophilia	4	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0001881	HP:0020064	Abnormal eosinophil count	4	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0001881	HP:0001880	Eosinophilia	4	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0001881	HP:0020064	Abnormal eosinophil count	4	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0001881	HP:0001880	Eosinophilia	4	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0001881	HP:0020064	Abnormal eosinophil count	4	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0001881	HP:0005403	T lymphocytopenia	4	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0001881	HP:0001875	Neutropenia	4	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3	.	27
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0001881	HP:0001875	Neutropenia	4	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0001881	HP:0040218	Reduced natural killer cell count	4	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0001881	HP:0001875	Neutropenia	4	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive	HP:0040283 - Occasional	9
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0001881	HP:0001875	Neutropenia	4	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	9
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0001881	HP:0010976	B lymphocytopenia	4	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0001881	HP:0001875	Neutropenia	4	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	6
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0001881	HP:0005403	T lymphocytopenia	4	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0001881	HP:0001875	Neutropenia	4	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001881	HP:0020064	Abnormal eosinophil count	4	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001881	HP:0031891	Decreased eosinophil count	4	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001881	HP:0001880	Eosinophilia	4	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0001881	HP:0020064	Abnormal eosinophil count	4	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency		3
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency		3
HP:0001881	HP:0001880	Eosinophilia	4	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	515
HP:0001881	HP:0020064	Abnormal eosinophil count	4	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome		515
HP:0001881	HP:0001875	Neutropenia	4	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0001881	HP:0001875	Neutropenia	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0001881	HP:0005403	T lymphocytopenia	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001881	HP:0001875	Neutropenia	4	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040281 - Very frequent	38
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0001881	HP:0001875	Neutropenia	4	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	HP:0040281 - Very frequent	38
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001881	HP:0001875	Neutropenia	4	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0001881	HP:0001875	Neutropenia	4	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040280 - Obligate	38
HP:0001881	HP:0001880	Eosinophilia	4	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0001881	HP:0020064	Abnormal eosinophil count	4	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001881	HP:0012311	Monocytosis	4	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	38
HP:0001881	HP:0001875	Neutropenia	4	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0001881	HP:0011991	Abnormal neutrophil count	4	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0001881	HP:0001875	Neutropenia	4	CSF3R CL E G H	1441	2439	OMIM:617014	Neutropenia, severe congenital, 7, autosomal recessive	.	34
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CSF3R CL E G H	1441	2439	OMIM:617014	Neutropenia, severe congenital, 7, autosomal recessive		34
HP:0001881	HP:0011897	Neutrophilia	4	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary	.	34
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary		34
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0001881	HP:0001875	Neutropenia	4	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040282 - Frequent	273
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0001881	HP:0001875	Neutropenia	4	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0001881	HP:0001875	Neutropenia	4	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0001881	HP:0001875	Neutropenia	4	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040281 - Very frequent	9
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0001881	HP:0011991	Abnormal neutrophil count	4	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040281 - Very frequent	9
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001881	HP:0001880	Eosinophilia	4	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0001881	HP:0001880	Eosinophilia	4	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0001881	HP:0020064	Abnormal eosinophil count	4	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0020064	Abnormal eosinophil count	4	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0001881	HP:0010976	B lymphocytopenia	4	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0001881	HP:0001880	Eosinophilia	4	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0020064	Abnormal eosinophil count	4	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0010976	B lymphocytopenia	4	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0031545	Abnormally low T cell receptor excision circle level	4	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0012311	Monocytosis	4	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001881	HP:0001875	Neutropenia	4	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	5
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0001881	HP:0011991	Abnormal neutrophil count	4	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0001881	HP:0001875	Neutropenia	4	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0001881	HP:0011991	Abnormal neutrophil count	4	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0001881	HP:0005403	T lymphocytopenia	4	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0001881	HP:0040218	Reduced natural killer cell count	4	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0001881	HP:0005403	T lymphocytopenia	4	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0001881	HP:0005403	T lymphocytopenia	4	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0001881	HP:0010976	B lymphocytopenia	4	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0001881	HP:0001880	Eosinophilia	4	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0001881	HP:0020064	Abnormal eosinophil count	4	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0005403	T lymphocytopenia	4	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0040218	Reduced natural killer cell count	4	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0006727	T-cell acute lymphoblastic leukemias	4	DUT CL E G H	1854	3078	OMIM:620044
HP:0001881	HP:0001875	Neutropenia	4	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	1
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0001881	HP:0001875	Neutropenia	4	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.	1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0001881	HP:0001875	Neutropenia	4	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040282 - Frequent	65
HP:0001881	HP:0011991	Abnormal neutrophil count	4	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0001881	HP:0001875	Neutropenia	4	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040280 - Obligate	79
HP:0001881	HP:0001880	Eosinophilia	4	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0001881	HP:0020064	Abnormal eosinophil count	4	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001881	HP:0012311	Monocytosis	4	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	79
HP:0001881	HP:0001875	Neutropenia	4	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0001881	HP:0001875	Neutropenia	4	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia	.	79
HP:0001881	HP:0020064	Abnormal eosinophil count	4	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia		79
HP:0001881	HP:0031891	Decreased eosinophil count	4	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional	79
HP:0001881	HP:0001875	Neutropenia	4	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0001880	Eosinophilia	4	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0001881	HP:0001913	Granulocytopenia	4	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0020064	Abnormal eosinophil count	4	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0012234	Agranulocytosis	4	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0012311	Monocytosis	4	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0001881	HP:0040218	Reduced natural killer cell count	4	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001881	HP:0001875	Neutropenia	4	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0005403	T lymphocytopenia	4	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0011991	Abnormal neutrophil count	4	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0001875	Neutropenia	4	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0001881	HP:0001875	Neutropenia	4	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0001881	HP:0001875	Neutropenia	4	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5	HP:0040283 - Occasional	13
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0001881	HP:0001880	Eosinophilia	4	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0001881	HP:0020064	Abnormal eosinophil count	4	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0001881	HP:0001880	Eosinophilia	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0020064	Abnormal eosinophil count	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0005403	T lymphocytopenia	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	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:0001881	HP:0001875	Neutropenia	4	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0001881	HP:0001875	Neutropenia	4	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0001881	HP:0001875	Neutropenia	4	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0001881	HP:0001875	Neutropenia	4	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0001881	HP:0001875	Neutropenia	4	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0001881	HP:0001875	Neutropenia	4	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0001881	HP:0001875	Neutropenia	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001875	Neutropenia	4	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001880	Eosinophilia	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0001881	HP:0001880	Eosinophilia	4	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0001881	HP:0020064	Abnormal eosinophil count	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0020064	Abnormal eosinophil count	4	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0005403	T lymphocytopenia	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0005404	Increased B cell count	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001875	Neutropenia	4	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0001875	Neutropenia	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0001880	Eosinophilia	4	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0001881	HP:0001880	Eosinophilia	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0001881	HP:0020064	Abnormal eosinophil count	4	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0020064	Abnormal eosinophil count	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0005403	T lymphocytopenia	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0005404	Increased B cell count	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0001875	Neutropenia	4	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	HP:0040283 - Occasional	384
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0001881	HP:0001875	Neutropenia	4	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0001881	HP:0040218	Reduced natural killer cell count	4	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0001881	HP:0001875	Neutropenia	4	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0001881	HP:0005403	T lymphocytopenia	4	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0001881	HP:0010976	B lymphocytopenia	4	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0001881	HP:0001875	Neutropenia	4	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	HP:0040284 - Very rare
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0001881	HP:0001875	Neutropenia	4	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0001881	HP:0001875	Neutropenia	4	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0001875	Neutropenia	4	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria	.	55
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0001881	HP:0001875	Neutropenia	4	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0010976	B lymphocytopenia	4	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0005403	T lymphocytopenia	4	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency	HP:0040281 - Very frequent	54
HP:0001881	HP:0005403	T lymphocytopenia	4	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.	54
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0001881	HP:0005403	T lymphocytopenia	4	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0001881	HP:0031545	Abnormally low T cell receptor excision circle level	4	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0001881	HP:0001875	Neutropenia	4	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0001881	HP:0001875	Neutropenia	4	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0001880	Eosinophilia	4	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0020064	Abnormal eosinophil count	4	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency		65
HP:0001881	HP:0001875	Neutropenia	4	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	HP:0040284 - Very rare	3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1		3
HP:0001881	HP:0001875	Neutropenia	4	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0001881	HP:0011991	Abnormal neutrophil count	4	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0001881	HP:0012311	Monocytosis	4	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0001881	HP:0001875	Neutropenia	4	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	.	29
HP:0001881	HP:0011991	Abnormal neutrophil count	4	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities		29
HP:0001881	HP:0001875	Neutropenia	4	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0001881	HP:0011991	Abnormal neutrophil count	4	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0001881	HP:0011991	Abnormal neutrophil count	4	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent	137
HP:0001881	HP:0001875	Neutropenia	4	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0001881	HP:0011991	Abnormal neutrophil count	4	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0001881	HP:0012312	Monocytopenia	4	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0001881	HP:0001875	Neutropenia	4	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040280 - Obligate	56
HP:0001881	HP:0001880	Eosinophilia	4	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0001881	HP:0020064	Abnormal eosinophil count	4	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0011991	Abnormal neutrophil count	4	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001881	HP:0012311	Monocytosis	4	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	56
HP:0001881	HP:0001875	Neutropenia	4	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults	.	56
HP:0001881	HP:0011991	Abnormal neutrophil count	4	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0001881	HP:0001875	Neutropenia	4	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant	.	56
HP:0001881	HP:0010976	B lymphocytopenia	4	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant	.	56
HP:0001881	HP:0011991	Abnormal neutrophil count	4	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0001881	HP:0012311	Monocytosis	4	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant	.	56
HP:0001881	HP:0001875	Neutropenia	4	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55	.
HP:0001881	HP:0500033	Abnormal natural killer subset distribution	4	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001881	HP:0011991	Abnormal neutrophil count	4	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency		12
HP:0001881	HP:0001875	Neutropenia	4	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.	39
HP:0001881	HP:0011991	Abnormal neutrophil count	4	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0001881	HP:0001875	Neutropenia	4	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0001881	HP:0011991	Abnormal neutrophil count	4	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0001881	HP:0001875	Neutropenia	4	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0001875	Neutropenia	4	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001881	HP:0001875	Neutropenia	4	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0001881	HP:0011991	Abnormal neutrophil count	4	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0001881	HP:0001880	Eosinophilia	4	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare	2
HP:0001881	HP:0100828	Increased T cell count	4	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	2
HP:0001881	HP:0020064	Abnormal eosinophil count	4	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001881	HP:0001875	Neutropenia	4	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001881	HP:0011991	Abnormal neutrophil count	4	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001881	HP:0001875	Neutropenia	4	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.	39
HP:0001881	HP:0011991	Abnormal neutrophil count	4	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001881	HP:0001875	Neutropenia	4	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0010976	B lymphocytopenia	4	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0001875	Neutropenia	4	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	23
HP:0001881	HP:0011991	Abnormal neutrophil count	4	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0001881	HP:0001875	Neutropenia	4	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0001881	HP:0010976	B lymphocytopenia	4	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0001881	HP:0011991	Abnormal neutrophil count	4	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0001881	HP:0001875	Neutropenia	4	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	7
HP:0001881	HP:0011991	Abnormal neutrophil count	4	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0001881	HP:0010976	B lymphocytopenia	4	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0001881	HP:0001875	Neutropenia	4	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0005403	T lymphocytopenia	4	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0001875	Neutropenia	4	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001881	HP:0010976	B lymphocytopenia	4	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001881	HP:0011991	Abnormal neutrophil count	4	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001881	HP:0001880	Eosinophilia	4	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0001881	HP:0001880	Eosinophilia	4	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent	52
HP:0001881	HP:0020064	Abnormal eosinophil count	4	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0001881	HP:0020064	Abnormal eosinophil count	4	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0001881	HP:0010976	B lymphocytopenia	4	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0001881	HP:0010976	B lymphocytopenia	4	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0001881	HP:0011897	Neutrophilia	4	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0001881	HP:0011991	Abnormal neutrophil count	4	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0001881	HP:0005403	T lymphocytopenia	4	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001881	HP:0010976	B lymphocytopenia	4	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001881	HP:0005403	T lymphocytopenia	4	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0001881	HP:0001880	Eosinophilia	4	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	48
HP:0001881	HP:0020064	Abnormal eosinophil count	4	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome		48
HP:0001881	HP:0005403	T lymphocytopenia	4	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0001881	HP:0005403	T lymphocytopenia	4	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0001881	HP:0040218	Reduced natural killer cell count	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:0001881	HP:0025540	Abnormal T cell subset distribution	4	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0001881	HP:0031545	Abnormally low T cell receptor excision circle level	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:0001881	HP:0011897	Neutrophilia	4	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0001881	HP:0011991	Abnormal neutrophil count	4	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0001881	HP:0001875	Neutropenia	4	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001881	HP:0040218	Reduced natural killer cell count	4	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001881	HP:0011991	Abnormal neutrophil count	4	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001881	HP:0001880	Eosinophilia	4	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0001881	HP:0020064	Abnormal eosinophil count	4	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0001881	HP:0005403	T lymphocytopenia	4	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0001881	HP:0001880	Eosinophilia	4	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0001881	HP:0020064	Abnormal eosinophil count	4	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome		94
HP:0001881	HP:0005403	T lymphocytopenia	4	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:0001881	HP:0001875	Neutropenia	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0001881	HP:0001880	Eosinophilia	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0001881	HP:0020064	Abnormal eosinophil count	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0005403	T lymphocytopenia	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:0001881	HP:0025540	Abnormal T cell subset distribution	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0011991	Abnormal neutrophil count	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0001880	Eosinophilia	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001881	HP:0020064	Abnormal eosinophil count	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001881	HP:0032061	Hypereosinophilia	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001881	HP:0001875	Neutropenia	4	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0001881	HP:0011991	Abnormal neutrophil count	4	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0001881	HP:0001875	Neutropenia	4	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:0001881	HP:0011991	Abnormal neutrophil count	4	IRAK4 CL E G H	51135	17967	ORPHA:70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency		58
HP:0001881	HP:0001875	Neutropenia	4	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0001881	HP:0011991	Abnormal neutrophil count	4	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0001881	HP:0001880	Eosinophilia	4	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0020064	Abnormal eosinophil count	4	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0011897	Neutrophilia	4	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0011991	Abnormal neutrophil count	4	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0012312	Monocytopenia	4	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0001875	Neutropenia	4	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0001881	HP:0005403	T lymphocytopenia	4	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001881	HP:0005403	T lymphocytopenia	4	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001881	HP:0010976	B lymphocytopenia	4	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001881	HP:0001875	Neutropenia	4	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive	.	8
HP:0001881	HP:0011991	Abnormal neutrophil count	4	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive		8
HP:0001881	HP:0001880	Eosinophilia	4	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0001881	HP:0020064	Abnormal eosinophil count	4	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0001881	HP:0005403	T lymphocytopenia	4	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0001881	HP:0500033	Abnormal natural killer subset distribution	4	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0001881	HP:0005403	T lymphocytopenia	4	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040281 - Very frequent	140
HP:0001881	HP:0500033	Abnormal natural killer subset distribution	4	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0001881	HP:0010976	B lymphocytopenia	4	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040283 - Occasional	140
HP:0001881	HP:0100495	Mastocytosis	4	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis		327
HP:0001881	HP:0100495	Mastocytosis	4	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous		327
HP:0001881	HP:0100495	Mastocytosis	4	KIT CL E G H	3815	6342	ORPHA:280794	Pseudoxanthomatous diffuse cutaneous mastocytosis		327
HP:0001881	HP:0001880	Eosinophilia	4	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0001881	HP:0020064	Abnormal eosinophil count	4	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0011897	Neutrophilia	4	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0001881	HP:0011991	Abnormal neutrophil count	4	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0031806	Abnormal basophil count	4	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001881	HP:0031807	Increased basophil count	4	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0001881	HP:0005403	T lymphocytopenia	4	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001881	HP:0040218	Reduced natural killer cell count	4	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0001881	HP:0010976	B lymphocytopenia	4	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0001881	HP:0001875	Neutropenia	4	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0001881	HP:0011991	Abnormal neutrophil count	4	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0001881	HP:0012311	Monocytosis	4	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0001881	HP:0001875	Neutropenia	4	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein	.	1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0001881	HP:0001875	Neutropenia	4	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency	HP:0040281 - Very frequent	1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency		1
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0001881	HP:0001875	Neutropenia	4	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001881	HP:0011991	Abnormal neutrophil count	4	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001881	HP:0005403	T lymphocytopenia	4	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0031545	Abnormally low T cell receptor excision circle level	4	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0005403	T lymphocytopenia	4	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0001881	HP:0005403	T lymphocytopenia	4	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0001881	HP:0001880	Eosinophilia	4	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	88
HP:0001881	HP:0020064	Abnormal eosinophil count	4	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome		88
HP:0001881	HP:0001875	Neutropenia	4	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040283 - Occasional	46
HP:0001881	HP:0011991	Abnormal neutrophil count	4	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0001881	HP:0001875	Neutropenia	4	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0001881	HP:0011991	Abnormal neutrophil count	4	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0001881	HP:0001875	Neutropenia	4	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0010976	B lymphocytopenia	4	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0011991	Abnormal neutrophil count	4	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0001875	Neutropenia	4	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0001881	HP:0001875	Neutropenia	4	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent	239
HP:0001881	HP:0011991	Abnormal neutrophil count	4	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0001881	HP:0031408	Increased proportion of CD25+ mast cells	4	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040281 - Very frequent	239
HP:0001881	HP:0001875	Neutropenia	4	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001881	HP:0011991	Abnormal neutrophil count	4	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001881	HP:0001875	Neutropenia	4	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V	.	1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0001881	HP:0005403	T lymphocytopenia	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:0001881	HP:0025540	Abnormal T cell subset distribution	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:0001881	HP:0005403	T lymphocytopenia	4	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001881	HP:0040218	Reduced natural killer cell count	4	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001881	HP:0010976	B lymphocytopenia	4	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001881	HP:0040218	Reduced natural killer cell count	4	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0001881	HP:0001875	Neutropenia	4	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0001881	HP:0001875	Neutropenia	4	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0001881	HP:0011991	Abnormal neutrophil count	4	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0001881	HP:0011897	Neutrophilia	4	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0001881	HP:0011991	Abnormal neutrophil count	4	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0001881	HP:0011897	Neutrophilia	4	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040282 - Frequent	281
HP:0001881	HP:0011991	Abnormal neutrophil count	4	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0001881	HP:0001875	Neutropenia	4	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0001881	HP:0011991	Abnormal neutrophil count	4	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0001881	HP:0001875	Neutropenia	4	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0001881	HP:0011991	Abnormal neutrophil count	4	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0001881	HP:0001875	Neutropenia	4	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0001881	HP:0011991	Abnormal neutrophil count	4	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0001881	HP:0001875	Neutropenia	4	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0001881	HP:0011991	Abnormal neutrophil count	4	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0001881	HP:0001875	Neutropenia	4	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001881	HP:0011991	Abnormal neutrophil count	4	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001881	HP:0001875	Neutropenia	4	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040283 - Occasional
HP:0001881	HP:0011991	Abnormal neutrophil count	4	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0001881	HP:0001875	Neutropenia	4	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040283 - Occasional
HP:0001881	HP:0011991	Abnormal neutrophil count	4	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0001881	HP:0001875	Neutropenia	4	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0001881	HP:0011991	Abnormal neutrophil count	4	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0001881	HP:0006727	T-cell acute lymphoblastic leukemias	4	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0001881	HP:0001875	Neutropenia	4	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50	.	2
HP:0001881	HP:0011991	Abnormal neutrophil count	4	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0001881	HP:0001875	Neutropenia	4	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional	88
HP:0001881	HP:0011991	Abnormal neutrophil count	4	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0001881	HP:0011897	Neutrophilia	4	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0001881	HP:0011991	Abnormal neutrophil count	4	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0001881	HP:0005403	T lymphocytopenia	4	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0001881	HP:0010976	B lymphocytopenia	4	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease		297
HP:0001881	HP:0001875	Neutropenia	4	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0001881	HP:0010976	B lymphocytopenia	4	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0001881	HP:0011991	Abnormal neutrophil count	4	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001881	HP:0001875	Neutropenia	4	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0001881	HP:0011991	Abnormal neutrophil count	4	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0001881	HP:0005403	T lymphocytopenia	4	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0001881	HP:0010976	B lymphocytopenia	4	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I		13
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II		67
HP:0001881	HP:0005404	Increased B cell count	4	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001881	HP:0001875	Neutropenia	4	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0001881	HP:0010976	B lymphocytopenia	4	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0001881	HP:0005403	T lymphocytopenia	4	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0001881	HP:0010976	B lymphocytopenia	4	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0001881	HP:0040218	Reduced natural killer cell count	4	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0001881	HP:0001880	Eosinophilia	4	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001881	HP:0020064	Abnormal eosinophil count	4	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001881	HP:0032061	Hypereosinophilia	4	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001881	HP:0001880	Eosinophilia	4	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001881	HP:0020064	Abnormal eosinophil count	4	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001881	HP:0001875	Neutropenia	4	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0001881	HP:0011991	Abnormal neutrophil count	4	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0020064	Abnormal eosinophil count	4	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001881	HP:0031891	Decreased eosinophil count	4	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001881	HP:0001875	Neutropenia	4	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0001881	HP:0011991	Abnormal neutrophil count	4	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0001881	HP:0012311	Monocytosis	4	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0001881	HP:0005403	T lymphocytopenia	4	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0001881	HP:0001875	Neutropenia	4	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0001881	HP:0011991	Abnormal neutrophil count	4	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0011897	Neutrophilia	4	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0001875	Neutropenia	4	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	HP:0040284 - Very rare
HP:0001881	HP:0011991	Abnormal neutrophil count	4	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0001881	HP:0001875	Neutropenia	4	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0001881	HP:0011991	Abnormal neutrophil count	4	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0001881	HP:0001875	Neutropenia	4	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92
HP:0001881	HP:0011991	Abnormal neutrophil count	4	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0001881	HP:0001880	Eosinophilia	4	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0001881	HP:0020064	Abnormal eosinophil count	4	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0001881	HP:0001880	Eosinophilia	4	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia	.	28
HP:0001881	HP:0020064	Abnormal eosinophil count	4	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0001881	HP:0001875	Neutropenia	4	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0001880	Eosinophilia	4	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0020064	Abnormal eosinophil count	4	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0011991	Abnormal neutrophil count	4	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0001875	Neutropenia	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0001881	HP:0001880	Eosinophilia	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0001881	HP:0020064	Abnormal eosinophil count	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0005403	T lymphocytopenia	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0001881	HP:0040218	Reduced natural killer cell count	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0011991	Abnormal neutrophil count	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0005403	T lymphocytopenia	4	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001881	HP:0040218	Reduced natural killer cell count	4	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0001881	HP:0010976	B lymphocytopenia	4	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0001881	HP:0005403	T lymphocytopenia	4	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001881	HP:0010976	B lymphocytopenia	4	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0011897	Neutrophilia	4	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0011991	Abnormal neutrophil count	4	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0012311	Monocytosis	4	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0001875	Neutropenia	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0001880	Eosinophilia	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0020064	Abnormal eosinophil count	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0005403	T lymphocytopenia	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0040218	Reduced natural killer cell count	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0011991	Abnormal neutrophil count	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0012312	Monocytopenia	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0001875	Neutropenia	4	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive	.	43
HP:0001881	HP:0011991	Abnormal neutrophil count	4	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0001881	HP:0001875	Neutropenia	4	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	43
HP:0001881	HP:0011991	Abnormal neutrophil count	4	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0010976	B lymphocytopenia	4	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0001881	HP:0001875	Neutropenia	4	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0001881	HP:0001875	Neutropenia	4	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0011991	Abnormal neutrophil count	4	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001881	HP:0010976	B lymphocytopenia	4	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001881	HP:0001875	Neutropenia	4	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001881	HP:0011991	Abnormal neutrophil count	4	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001881	HP:0001875	Neutropenia	4	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0001881	HP:0011991	Abnormal neutrophil count	4	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001881	HP:0001875	Neutropenia	4	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0001881	HP:0011991	Abnormal neutrophil count	4	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0001881	HP:0001875	Neutropenia	4	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	58
HP:0001881	HP:0011991	Abnormal neutrophil count	4	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0001881	HP:0010976	B lymphocytopenia	4	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001881	HP:0001875	Neutropenia	4	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	134
HP:0001881	HP:0011991	Abnormal neutrophil count	4	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0001881	HP:0001875	Neutropenia	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0001880	Eosinophilia	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0001881	HP:0020064	Abnormal eosinophil count	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0005403	T lymphocytopenia	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0005404	Increased B cell count	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0011991	Abnormal neutrophil count	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0005404	Increased B cell count	4	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001881	HP:0005403	T lymphocytopenia	4	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001881	HP:0005404	Increased B cell count	4	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001881	HP:0040218	Reduced natural killer cell count	4	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001881	HP:0001875	Neutropenia	4	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040282 - Frequent	67
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0001881	HP:0001875	Neutropenia	4	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0005403	T lymphocytopenia	4	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0010976	B lymphocytopenia	4	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0012312	Monocytopenia	4	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0031545	Abnormally low T cell receptor excision circle level	4	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0010976	B lymphocytopenia	4	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0001881	HP:0031545	Abnormally low T cell receptor excision circle level	4	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0001881	HP:0011897	Neutrophilia	4	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	RAC2 CL E G H	5880	9802	ORPHA:183707	Neutrophil immunodeficiency syndrome	HP:0040281 - Very frequent	9
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0031545	Abnormally low T cell receptor excision circle level	4	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0005403	T lymphocytopenia	4	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	127
HP:0001881	HP:0010976	B lymphocytopenia	4	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	127
HP:0001881	HP:0001875	Neutropenia	4	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0005403	T lymphocytopenia	4	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040281 - Very frequent	127
HP:0001881	HP:0010976	B lymphocytopenia	4	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040281 - Very frequent	127
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0001880	Eosinophilia	4	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0001881	HP:0001880	Eosinophilia	4	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	127
HP:0001881	HP:0020064	Abnormal eosinophil count	4	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0001881	HP:0020064	Abnormal eosinophil count	4	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome		127
HP:0001881	HP:0010976	B lymphocytopenia	4	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0001881	HP:0001880	Eosinophilia	4	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	127
HP:0001881	HP:0020064	Abnormal eosinophil count	4	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0001881	HP:0005403	T lymphocytopenia	4	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:0001881	HP:0010976	B lymphocytopenia	4	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:0001881	HP:0005403	T lymphocytopenia	4	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	50
HP:0001881	HP:0010976	B lymphocytopenia	4	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	50
HP:0001881	HP:0001880	Eosinophilia	4	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	50
HP:0001881	HP:0001880	Eosinophilia	4	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0001881	HP:0020064	Abnormal eosinophil count	4	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome		50
HP:0001881	HP:0020064	Abnormal eosinophil count	4	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0001881	HP:0010976	B lymphocytopenia	4	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0001881	HP:0001880	Eosinophilia	4	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	50
HP:0001881	HP:0020064	Abnormal eosinophil count	4	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0001881	HP:0005403	T lymphocytopenia	4	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:0001881	HP:0010976	B lymphocytopenia	4	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:0001881	HP:0001875	Neutropenia	4	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	2
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0001881	HP:0001875	Neutropenia	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0001880	Eosinophilia	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0001881	HP:0020064	Abnormal eosinophil count	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0005403	T lymphocytopenia	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0005404	Increased B cell count	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001881	HP:0001880	Eosinophilia	4	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001881	HP:0020064	Abnormal eosinophil count	4	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001881	HP:0001875	Neutropenia	4	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001881	HP:0010976	B lymphocytopenia	4	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001881	HP:0001875	Neutropenia	4	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0001881	HP:0001875	Neutropenia	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0001881	HP:0005403	T lymphocytopenia	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0001881	HP:0001875	Neutropenia	4	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0001881	HP:0001875	Neutropenia	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0001881	HP:0005403	T lymphocytopenia	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0001881	HP:0001875	Neutropenia	4	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0001881	HP:0001875	Neutropenia	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0001881	HP:0005403	T lymphocytopenia	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0001881	HP:0005403	T lymphocytopenia	4	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001881	HP:0040218	Reduced natural killer cell count	4	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001881	HP:0010976	B lymphocytopenia	4	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001881	HP:0001875	Neutropenia	4	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent	37
HP:0001881	HP:0001875	Neutropenia	4	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0001881	HP:0001880	Eosinophilia	4	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	37
HP:0001881	HP:0020064	Abnormal eosinophil count	4	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome		37
HP:0001881	HP:0001875	Neutropenia	4	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0001881	HP:0001880	Eosinophilia	4	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0001881	HP:0001880	Eosinophilia	4	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0001881	HP:0020064	Abnormal eosinophil count	4	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0001881	HP:0020064	Abnormal eosinophil count	4	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0001881	HP:0031545	Abnormally low T cell receptor excision circle level	4	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0001881	HP:0001875	Neutropenia	4	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0001875	Neutropenia	4	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0001881	HP:0001875	Neutropenia	4	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0001875	Neutropenia	4	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001875	Neutropenia	4	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0001881	HP:0001875	Neutropenia	4	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0001875	Neutropenia	4	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0001881	HP:0001875	Neutropenia	4	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001875	Neutropenia	4	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001875	Neutropenia	4	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001875	Neutropenia	4	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0001881	HP:0001875	Neutropenia	4	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0001881	HP:0001875	Neutropenia	4	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040283 - Occasional
HP:0001881	HP:0001875	Neutropenia	4	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001881	HP:0001875	Neutropenia	4	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0001881	HP:0001875	Neutropenia	4	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4	.	5
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0001881	HP:0001875	Neutropenia	4	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0001881	HP:0001875	Neutropenia	4	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0001881	HP:0001875	Neutropenia	4	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001875	Neutropenia	4	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001881	HP:0001875	Neutropenia	4	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0001875	Neutropenia	4	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001875	Neutropenia	4	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001913	Granulocytopenia	4	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.	1
HP:0001881	HP:0001875	Neutropenia	4	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001881	HP:0001875	Neutropenia	4	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001881	HP:0001875	Neutropenia	4	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8	.	20
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0001881	HP:0001875	Neutropenia	4	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	181
HP:0001881	HP:0011991	Abnormal neutrophil count	4	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis		181
HP:0001881	HP:0031408	Increased proportion of CD25+ mast cells	4	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0001881	HP:0001875	Neutropenia	4	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0001881	HP:0001875	Neutropenia	4	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001881	HP:0001875	Neutropenia	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0005403	T lymphocytopenia	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0040218	Reduced natural killer cell count	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0010976	B lymphocytopenia	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0001875	Neutropenia	4	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	26
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0001881	HP:0001875	Neutropenia	4	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	26
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0001881	HP:0001875	Neutropenia	4	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0001881	HP:0001875	Neutropenia	4	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.	2
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5		2
HP:0001881	HP:0001875	Neutropenia	4	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0001881	HP:0001913	Granulocytopenia	4	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0001881	HP:0001875	Neutropenia	4	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0001881	HP:0001880	Eosinophilia	4	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome	HP:0040281 - Very frequent	26
HP:0001881	HP:0020064	Abnormal eosinophil count	4	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome		26
HP:0001881	HP:0001875	Neutropenia	4	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0001881	HP:0001875	Neutropenia	4	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG	HP:0040281 - Very frequent	24
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG		24
HP:0001881	HP:0011897	Neutrophilia	4	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc	.	71
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0001881	HP:0011897	Neutrophilia	4	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040281 - Very frequent	71
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0001881	HP:0001875	Neutropenia	4	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0001881	HP:0001875	Neutropenia	4	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0001881	HP:0001875	Neutropenia	4	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0001881	HP:0010976	B lymphocytopenia	4	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001881	HP:0001875	Neutropenia	4	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.	101
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary		101
HP:0001881	HP:0001880	Eosinophilia	4	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040283 - Occasional	101
HP:0001881	HP:0020064	Abnormal eosinophil count	4	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0001881	HP:0001875	Neutropenia	4	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0001881	HP:0001875	Neutropenia	4	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0001881	HP:0001875	Neutropenia	4	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0001881	HP:0005403	T lymphocytopenia	4	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent	49
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0001881	HP:0001875	Neutropenia	4	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0010976	B lymphocytopenia	4	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0001880	Eosinophilia	4	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001881	HP:0020064	Abnormal eosinophil count	4	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001881	HP:0032061	Hypereosinophilia	4	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0001881	HP:0001880	Eosinophilia	4	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0001881	HP:0020064	Abnormal eosinophil count	4	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0001881	HP:0001875	Neutropenia	4	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040280 - Obligate
HP:0001881	HP:0001880	Eosinophilia	4	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0001881	HP:0020064	Abnormal eosinophil count	4	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001881	HP:0012311	Monocytosis	4	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0001881	HP:0001875	Neutropenia	4	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0001881	HP:0001875	Neutropenia	4	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent
HP:0001881	HP:0011990	Abnormality of neutrophil physiology	4	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001881	HP:0001875	Neutropenia	4	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001881	HP:0001875	Neutropenia	4	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis		1
HP:0001881	HP:0031408	Increased proportion of CD25+ mast cells	4	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0001881	HP:0001880	Eosinophilia	4	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0001881	HP:0020064	Abnormal eosinophil count	4	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0011897	Neutrophilia	4	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0031806	Abnormal basophil count	4	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001881	HP:0031807	Increased basophil count	4	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0001881	HP:0001875	Neutropenia	4	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0001881	HP:0010976	B lymphocytopenia	4	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0001881	HP:0011991	Abnormal neutrophil count	4	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0001881	HP:0001875	Neutropenia	4	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	110
HP:0001881	HP:0011991	Abnormal neutrophil count	4	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0001881	HP:0001875	Neutropenia	4	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0001881	HP:0011991	Abnormal neutrophil count	4	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0001881	HP:0001880	Eosinophilia	4	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent	110
HP:0001881	HP:0020064	Abnormal eosinophil count	4	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0001881	HP:0001880	Eosinophilia	4	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0001881	HP:0020064	Abnormal eosinophil count	4	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0001881	HP:0001875	Neutropenia	4	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0001881	HP:0011991	Abnormal neutrophil count	4	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001881	HP:0001875	Neutropenia	4	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS	.	4
HP:0001881	HP:0011991	Abnormal neutrophil count	4	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0001881	HP:0001875	Neutropenia	4	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0001881	HP:0011991	Abnormal neutrophil count	4	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0001881	HP:0001875	Neutropenia	4	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001881	HP:0011991	Abnormal neutrophil count	4	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001881	HP:0001875	Neutropenia	4	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0001881	HP:0011991	Abnormal neutrophil count	4	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0001881	HP:0005403	T lymphocytopenia	4	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001881	HP:0040218	Reduced natural killer cell count	4	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001881	HP:0010976	B lymphocytopenia	4	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001881	HP:0001875	Neutropenia	4	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	HP:0040283 - Occasional
HP:0001881	HP:0001913	Granulocytopenia	4	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001881	HP:0001875	Neutropenia	4	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001881	HP:0011897	Neutrophilia	4	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	20
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis		20
HP:0001881	HP:0001875	Neutropenia	4	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	22
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0001881	HP:0001880	Eosinophilia	4	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0001881	HP:0020064	Abnormal eosinophil count	4	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0001881	HP:0010976	B lymphocytopenia	4	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0001881	HP:0004812	B Acute Lymphoblastic Leukemia	4	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0010976	B lymphocytopenia	4	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0001875	Neutropenia	4	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	2
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0001881	HP:0001875	Neutropenia	4	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040280 - Obligate	82
HP:0001881	HP:0001880	Eosinophilia	4	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0001881	HP:0020064	Abnormal eosinophil count	4	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001881	HP:0012311	Monocytosis	4	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	82
HP:0001881	HP:0001875	Neutropenia	4	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040282 - Frequent	57
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0001881	HP:0001875	Neutropenia	4	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.	57
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0001881	HP:0001875	Neutropenia	4	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23	.	3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23		3
HP:0001881	HP:0001875	Neutropenia	4	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	48
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0001881	HP:0001875	Neutropenia	4	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0001881	HP:0001875	Neutropenia	4	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	238
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0001881	HP:0001875	Neutropenia	4	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0001881	HP:0001913	Granulocytopenia	4	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0001881	HP:0001875	Neutropenia	4	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis		3
HP:0001881	HP:0031408	Increased proportion of CD25+ mast cells	4	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0001881	HP:0001875	Neutropenia	4	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia	HP:0040284 - Very rare	3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia		3
HP:0001881	HP:0001880	Eosinophilia	4	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0001881	HP:0020064	Abnormal eosinophil count	4	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0011897	Neutrophilia	4	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0031806	Abnormal basophil count	4	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001881	HP:0031807	Increased basophil count	4	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0001881	HP:0001875	Neutropenia	4	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.	67
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0001881	HP:0001875	Neutropenia	4	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0001881	HP:0011897	Neutrophilia	4	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	6
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis		6
HP:0001881	HP:0011897	Neutrophilia	4	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	3
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis		3
HP:0001881	HP:0001875	Neutropenia	4	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0001913	Granulocytopenia	4	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0010976	B lymphocytopenia	4	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0012234	Agranulocytosis	4	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0011992	Abnormality of neutrophil morphology	4	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001881	HP:0001875	Neutropenia	4	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001881	HP:0010976	B lymphocytopenia	4	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001881	HP:0005403	T lymphocytopenia	4	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0040218	Reduced natural killer cell count	4	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0025539	Abnormal B cell subset distribution	4	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0001875	Neutropenia	4	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001881	HP:0001875	Neutropenia	4	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	HP:0040284 - Very rare
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0001881	HP:0020064	Abnormal eosinophil count	4	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001881	HP:0031891	Decreased eosinophil count	4	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001881	HP:0001875	Neutropenia	4	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001881	HP:0001880	Eosinophilia	4	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0001881	HP:0020064	Abnormal eosinophil count	4	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0001881	HP:0032061	Hypereosinophilia	4	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY	.	1
HP:0001881	HP:0011897	Neutrophilia	4	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	2
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis		2
HP:0001881	HP:0010976	B lymphocytopenia	4	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0001881	HP:0001875	Neutropenia	4	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001881	HP:0001875	Neutropenia	4	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0001881	HP:0011991	Abnormal neutrophil count	4	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0001881	HP:0005403	T lymphocytopenia	4	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0010976	B lymphocytopenia	4	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0001875	Neutropenia	4	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0001881	HP:0011991	Abnormal neutrophil count	4	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0001881	HP:0001913	Granulocytopenia	4	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0001881	HP:0011897	Neutrophilia	4	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	5
HP:0001881	HP:0011991	Abnormal neutrophil count	4	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis		5
HP:0001881	HP:0001875	Neutropenia	4	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0001881	HP:0011991	Abnormal neutrophil count	4	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0001881	HP:0020064	Abnormal eosinophil count	4	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001881	HP:0031891	Decreased eosinophil count	4	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001881	HP:0020064	Abnormal eosinophil count	4	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001881	HP:0031891	Decreased eosinophil count	4	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001881	HP:0001875	Neutropenia	4	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546
HP:0001881	HP:0001875	Neutropenia	4	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0001881	HP:0011991	Abnormal neutrophil count	4	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0001881	HP:0011991	Abnormal neutrophil count	4	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0001881	HP:0001875	Neutropenia	4	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001881	HP:0001875	Neutropenia	4	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive	.	7
HP:0001881	HP:0011991	Abnormal neutrophil count	4	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0001881	HP:0001875	Neutropenia	4	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked	.	65
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0011991	Abnormal neutrophil count	4	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0012312	Monocytopenia	4	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0001875	Neutropenia	4	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0001881	HP:0001880	Eosinophilia	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0020064	Abnormal eosinophil count	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0005403	T lymphocytopenia	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0011991	Abnormal neutrophil count	4	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0001875	Neutropenia	4	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia	HP:0040281 - Very frequent	65
HP:0001881	HP:0011991	Abnormal neutrophil count	4	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0001881	HP:0012312	Monocytopenia	4	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia	HP:0040281 - Very frequent	65
HP:0001881	HP:0001875	Neutropenia	4	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome	.
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0010976	B lymphocytopenia	4	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0011991	Abnormal neutrophil count	4	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0001875	Neutropenia	4	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0001881	HP:0011991	Abnormal neutrophil count	4	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0001881	HP:0005403	T lymphocytopenia	4	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0001881	HP:0001875	Neutropenia	4	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001881	HP:0011991	Abnormal neutrophil count	4	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0001881	HP:0001880	Eosinophilia	4	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0001881	HP:0020064	Abnormal eosinophil count	4	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	HP:0005403	T lymphocytopenia	4	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	HP:0005403	T lymphocytopenia	4	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0001881	HP:0025540	Abnormal T cell subset distribution	4	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0001881	HP:0001875	Neutropenia	4	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	1
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0001881	HP:0001880	Eosinophilia	4	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	HP:0040284 - Very rare	1
HP:0001881	HP:0020064	Abnormal eosinophil count	4	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0001881	HP:0011897	Neutrophilia	4	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0011991	Abnormal neutrophil count	4	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0012311	Monocytosis	4	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0012235	Drug-induced agranulocytosis	5	CL E G H
HP:0001881	HP:0012552	Increased neutrophil nuclear projections	5	CL E G H
HP:0001881	HP:0030251	Absence of memory B cells	5	CL E G H
HP:0001881	HP:0030335	Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count	5	CL E G H
HP:0001881	HP:0030370	Abnormal proportion of naive B cells	5	CL E G H
HP:0001881	HP:0030376	Abnormal proportion of immature B cells	5	CL E G H
HP:0001881	HP:0031019	Pyknotic bone marrow neutrophils	5	CL E G H
HP:0001881	HP:0031410	Abnormal distribution of CD56 bright/dim natural killer cells	5	CL E G H
HP:0001881	HP:0031824	Hepatic mastocytosis	5	CL E G H
HP:0001881	HP:0032127	Abnormal plasmablast proportion	5	CL E G H
HP:0001881	HP:0032151	Episodic eosinophilia	5	CL E G H
HP:0001881	HP:0032236	Increased circulating immature neutrophil count	5	CL E G H
HP:0001881	HP:0032237	Increased circulating myelocyte count	5	CL E G H
HP:0001881	HP:0032238	Increased circulating metamyelocyte count	5	CL E G H
HP:0001881	HP:0032239	Increased circulating band cell count	5	CL E G H
HP:0001881	HP:0032577	Clonal T cell receptor rearrangement	5	CL E G H
HP:0001881	HP:0041080	Abnormal proportion of exhausted T cells	5	CL E G H
HP:0001881	HP:0410251	Abnormal L-selectin shedding	5	CL E G H
HP:0001881	HP:0410257	Neutrophilia in presence of infection	5	CL E G H
HP:0001881	HP:0410258	Neutrophilia in absence of infection	5	CL E G H
HP:0001881	HP:0500272	Abnormal proportion of immature gamma-delta T cells	5	CL E G H
HP:0001881	HP:0001875	Neutropenia	5	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0001881	HP:0001875	Neutropenia	5	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001881	HP:0001880	Eosinophilia	5	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	75
HP:0001881	HP:0001880	Eosinophilia	5	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:0001881	HP:0005365	Severe B lymphocytopenia	5	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:0001881	HP:0001875	Neutropenia	5	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0001881	HP:0001875	Neutropenia	5	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0001881	HP:0005541	Congenital agranulocytosis	5	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001881	HP:0012234	Agranulocytosis	5	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001881	HP:0001875	Neutropenia	5	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040282 - Frequent	25
HP:0001881	HP:0004821	Hypersegmentation of neutrophil nuclei	5	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040281 - Very frequent	25
HP:0001881	HP:0001875	Neutropenia	5	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional	2
HP:0001881	HP:0001875	Neutropenia	5	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0001875	Neutropenia	5	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0001881	HP:0030379	Abnormal proportion of transitional B cells	5	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0001881	HP:0001875	Neutropenia	5	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	145
HP:0001881	HP:0001880	Eosinophilia	5	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0001881	HP:0011897	Neutrophilia	5	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0001881	HP:0031807	Increased basophil count	5	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0001881	HP:0031392	Abnormal 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:0001881	HP:0001875	Neutropenia	5	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome	HP:0040281 - Very frequent	169
HP:0001881	HP:0031891	Decreased eosinophil count	5	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0031808	Decreased basophil count	5	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0032182	Abnormal proportion of memory T cells	5	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0001881	HP:0001880	Eosinophilia	5	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0001881	HP:0001880	Eosinophilia	5	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:0001881	HP:0001875	Neutropenia	5	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	101
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0001881	HP:0001875	Neutropenia	5	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive	.	4
HP:0001881	HP:0001875	Neutropenia	5	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	4
HP:0001881	HP:0031891	Decreased eosinophil count	5	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001881	HP:0001875	Neutropenia	5	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001881	HP:0030252	Absent circulating B cells	5	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0001881	HP:0001875	Neutropenia	5	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040282 - Frequent	109
HP:0001881	HP:0001880	Eosinophilia	5	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare	1
HP:0001881	HP:0001875	Neutropenia	5	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001881	HP:0001880	Eosinophilia	5	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A	.	323
HP:0001881	HP:0031891	Decreased eosinophil count	5	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0001881	HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	5	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0001881	HP:0001880	Eosinophilia	5	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis	.	45
HP:0001881	HP:0001880	Eosinophilia	5	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001881	HP:0032061	Hypereosinophilia	5	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001881	HP:0001875	Neutropenia	5	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001881	HP:0001875	Neutropenia	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0001880	Eosinophilia	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0001881	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0001875	Neutropenia	5	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0001880	Eosinophilia	5	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0001881	HP:0002853	Increased proportion of HLA DR+ T cells	5	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0001881	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	5	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0001881	HP:0001875	Neutropenia	5	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	317
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0001881	HP:0001880	Eosinophilia	5	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0001881	HP:0001880	Eosinophilia	5	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0001881	HP:0045080	Decreased proportion of CD3-positive T cells	5	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	8
HP:0001881	HP:0001880	Eosinophilia	5	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0001881	HP:0045080	Decreased proportion of CD3-positive T cells	5	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	18
HP:0001881	HP:0045080	Decreased proportion of CD3-positive T cells	5	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0001881	HP:0001880	Eosinophilia	5	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0001881	HP:0045080	Decreased proportion of CD3-positive T cells	5	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	24
HP:0001881	HP:0005415	Decreased proportion of CD8-positive T cells	5	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	.	19
HP:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0001881	HP:0001875	Neutropenia	5	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3	.	27
HP:0001881	HP:0001875	Neutropenia	5	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0001881	HP:0001875	Neutropenia	5	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive	HP:0040283 - Occasional	9
HP:0001881	HP:0001875	Neutropenia	5	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	9
HP:0001881	HP:0001875	Neutropenia	5	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	6
HP:0001881	HP:0005415	Decreased proportion of CD8-positive T cells	5	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0001881	HP:0410252	Chronic neutropenia	5	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001881	HP:0001875	Neutropenia	5	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001881	HP:0031891	Decreased eosinophil count	5	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001881	HP:0001880	Eosinophilia	5	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0001881	HP:0005400	Reduction of neutrophil motility	5	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0001881	HP:0011447	Hyposegmentation of neutrophil nuclei	5	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0001881	HP:0041045	Increased neutrophil mitochondria	5	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency	.	3
HP:0001881	HP:0041046	Increased neutrophil ribosomes	5	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency	.	3
HP:0001881	HP:0011447	Hyposegmentation of neutrophil nuclei	5	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency	.	3
HP:0001881	HP:0011993	Impaired neutrophil bactericidal activity	5	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency		3
HP:0001881	HP:0012551	Absent neutrophil specific granules	5	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency	.	3
HP:0001881	HP:0001880	Eosinophilia	5	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	515
HP:0001881	HP:0001875	Neutropenia	5	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0001881	HP:0001875	Neutropenia	5	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0001881	HP:0005407	Decreased 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	HP:0040282 - Frequent	118
HP:0001881	HP:0031392	Abnormal 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:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0001881	HP:0410255	Transient neutropenia	5	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0001881	HP:0001875	Neutropenia	5	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040281 - Very frequent	38
HP:0001881	HP:0001875	Neutropenia	5	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	HP:0040281 - Very frequent	38
HP:0001881	HP:0001875	Neutropenia	5	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0001881	HP:0001875	Neutropenia	5	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040280 - Obligate	38
HP:0001881	HP:0001880	Eosinophilia	5	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0001881	HP:0001875	Neutropenia	5	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0001881	HP:0001875	Neutropenia	5	CSF3R CL E G H	1441	2439	OMIM:617014	Neutropenia, severe congenital, 7, autosomal recessive	.	34
HP:0001881	HP:0011897	Neutrophilia	5	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary	.	34
HP:0001881	HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	5	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001881	HP:4000039	Reduced proportion of mucosal-associated invariant T cells	5	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0001881	HP:0001875	Neutropenia	5	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040282 - Frequent	273
HP:0001881	HP:0004821	Hypersegmentation of neutrophil nuclei	5	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040281 - Very frequent	273
HP:0001881	HP:0410252	Chronic neutropenia	5	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0001881	HP:0001875	Neutropenia	5	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0001881	HP:0001875	Neutropenia	5	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0001881	HP:0001875	Neutropenia	5	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040281 - Very frequent	9
HP:0001881	HP:0011993	Impaired neutrophil bactericidal activity	5	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0001881	HP:0011993	Impaired neutrophil bactericidal activity	5	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0001881	HP:0011993	Impaired neutrophil bactericidal activity	5	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001881	HP:0001880	Eosinophilia	5	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0001881	HP:0001880	Eosinophilia	5	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0001881	HP:0005365	Severe B lymphocytopenia	5	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0001881	HP:0045080	Decreased proportion of CD3-positive T cells	5	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040283 - Occasional	94
HP:0001881	HP:0001880	Eosinophilia	5	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001881	HP:0410255	Transient neutropenia	5	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0001881	HP:0410252	Chronic neutropenia	5	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0001881	HP:0001875	Neutropenia	5	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	5
HP:0001881	HP:0005400	Reduction of neutrophil motility	5	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0001881	HP:0001875	Neutropenia	5	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0001881	HP:0001880	Eosinophilia	5	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0001881	HP:0005407	Decreased 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:0001881	HP:0031392	Abnormal 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:0001881	HP:0410255	Transient neutropenia	5	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0001881	HP:0410252	Chronic neutropenia	5	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0001881	HP:0001875	Neutropenia	5	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	1
HP:0001881	HP:0005400	Reduction of neutrophil motility	5	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0001881	HP:0001875	Neutropenia	5	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.	1
HP:0001881	HP:0001875	Neutropenia	5	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040282 - Frequent	65
HP:0001881	HP:0001875	Neutropenia	5	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040280 - Obligate	79
HP:0001881	HP:0001880	Eosinophilia	5	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0001881	HP:0001875	Neutropenia	5	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0001881	HP:0001875	Neutropenia	5	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia	.	79
HP:0001881	HP:0040289	Cyclic neutropenia	5	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia	.	79
HP:0001881	HP:0040289	Cyclic neutropenia	5	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040281 - Very frequent	79
HP:0001881	HP:0031891	Decreased eosinophil count	5	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional	79
HP:0001881	HP:0001875	Neutropenia	5	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0001880	Eosinophilia	5	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0001881	HP:0005541	Congenital agranulocytosis	5	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0001881	HP:0012234	Agranulocytosis	5	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001881	HP:0030373	Abnormal 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:0001881	HP:0001875	Neutropenia	5	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0001875	Neutropenia	5	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0001881	HP:0001875	Neutropenia	5	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0001881	HP:0001875	Neutropenia	5	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5	HP:0040283 - Occasional	13
HP:0001881	HP:0001880	Eosinophilia	5	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0001881	HP:0001880	Eosinophilia	5	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0005407	Decreased 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	HP:0040283 - Occasional	3
HP:0001881	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:0001881	HP:0031392	Abnormal 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:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0032061	Hypereosinophilia	5	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0001881	HP:0001875	Neutropenia	5	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0001881	HP:0001875	Neutropenia	5	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0001881	HP:0001875	Neutropenia	5	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0001881	HP:0001875	Neutropenia	5	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0001881	HP:0001875	Neutropenia	5	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0001881	HP:0001875	Neutropenia	5	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0001881	HP:0001875	Neutropenia	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001875	Neutropenia	5	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001880	Eosinophilia	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0001881	HP:0001880	Eosinophilia	5	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0001881	HP:0002853	Increased proportion of HLA DR+ T cells	5	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0001881	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	5	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001875	Neutropenia	5	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0001875	Neutropenia	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0001880	Eosinophilia	5	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0001881	HP:0001880	Eosinophilia	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0001881	HP:0002853	Increased proportion of HLA DR+ T cells	5	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0001881	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	5	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0001875	Neutropenia	5	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	HP:0040283 - Occasional	384
HP:0001881	HP:0001875	Neutropenia	5	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0001881	HP:0001875	Neutropenia	5	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia	HP:0040281 - Very frequent	5
HP:0001881	HP:0001875	Neutropenia	5	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	HP:0040284 - Very rare
HP:0001881	HP:0410255	Transient neutropenia	5	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0001881	HP:0410252	Chronic neutropenia	5	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0001881	HP:0001875	Neutropenia	5	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0001881	HP:0001875	Neutropenia	5	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0001881	HP:0001875	Neutropenia	5	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria	.	55
HP:0001881	HP:0001875	Neutropenia	5	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0030252	Absent circulating B cells	5	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	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:0001881	HP:0500263	Abnormal helper T cell proportion	5	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0001881	HP:0001875	Neutropenia	5	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0001881	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	5	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0001881	HP:0001875	Neutropenia	5	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0001880	Eosinophilia	5	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001881	HP:0004821	Hypersegmentation of neutrophil nuclei	5	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency	.	65
HP:0001881	HP:0001875	Neutropenia	5	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	HP:0040284 - Very rare	3
HP:0001881	HP:0001875	Neutropenia	5	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0001881	HP:0001875	Neutropenia	5	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	.	29
HP:0001881	HP:0001875	Neutropenia	5	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0001881	HP:0001875	Neutropenia	5	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0001881	HP:0001875	Neutropenia	5	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040280 - Obligate	56
HP:0001881	HP:0001880	Eosinophilia	5	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0001881	HP:0001875	Neutropenia	5	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults	.	56
HP:0001881	HP:0001875	Neutropenia	5	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant	.	56
HP:0001881	HP:0001875	Neutropenia	5	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55	.
HP:0001881	HP:0040219	Absent natural killer cells	5	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001881	HP:0011993	Impaired neutrophil bactericidal activity	5	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency		12
HP:0001881	HP:0001875	Neutropenia	5	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.	39
HP:0001881	HP:0001875	Neutropenia	5	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0001881	HP:0001875	Neutropenia	5	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001881	HP:0001875	Neutropenia	5	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001881	HP:0001875	Neutropenia	5	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent	1
HP:0001881	HP:0001880	Eosinophilia	5	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare	2
HP:0001881	HP:0001875	Neutropenia	5	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001881	HP:0001875	Neutropenia	5	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.	39
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001881	HP:0001875	Neutropenia	5	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	HP:0040283 - Occasional	32
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0001875	Neutropenia	5	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	23
HP:0001881	HP:0001875	Neutropenia	5	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0001881	HP:0001875	Neutropenia	5	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	7
HP:0001881	HP:0030252	Absent circulating B cells	5	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0001881	HP:0001875	Neutropenia	5	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0005415	Decreased proportion of CD8-positive T cells	5	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0001875	Neutropenia	5	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001881	HP:0001880	Eosinophilia	5	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0001881	HP:0001880	Eosinophilia	5	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent	52
HP:0001881	HP:0011897	Neutrophilia	5	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0001881	HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	5	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0001881	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:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0001881	HP:0001880	Eosinophilia	5	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	48
HP:0001881	HP:0005407	Decreased 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	HP:0040281 - Very frequent	48
HP:0001881	HP:0045080	Decreased proportion of CD3-positive T cells	5	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040282 - Frequent	48
HP:0001881	HP:0031392	Abnormal 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:0001881	HP:0031396	Abnormal 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		48
HP:0001881	HP:0011897	Neutrophilia	5	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0001881	HP:0030373	Abnormal 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:0001881	HP:0001875	Neutropenia	5	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001881	HP:0001880	Eosinophilia	5	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0001881	HP:0001880	Eosinophilia	5	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0001881	HP:0001875	Neutropenia	5	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0001881	HP:0001880	Eosinophilia	5	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0001881	HP:0005407	Decreased 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	HP:0040282 - Frequent	94
HP:0001881	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:0001881	HP:0045080	Decreased proportion of CD3-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:0001881	HP:0031392	Abnormal 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:0001881	HP:0031393	Abnormal 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		94
HP:0001881	HP:0001880	Eosinophilia	5	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001881	HP:0032061	Hypereosinophilia	5	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001881	HP:0410255	Transient neutropenia	5	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0001881	HP:0001875	Neutropenia	5	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0001881	HP:0001875	Neutropenia	5	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:0001881	HP:0001875	Neutropenia	5	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0001881	HP:0001880	Eosinophilia	5	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0011897	Neutrophilia	5	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0011993	Impaired neutrophil bactericidal activity	5	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0001875	Neutropenia	5	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional	3
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001881	HP:0001875	Neutropenia	5	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive	.	8
HP:0001881	HP:0001880	Eosinophilia	5	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0001881	HP:0040219	Absent natural killer cells	5	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0001881	HP:0040219	Absent natural killer cells	5	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040282 - Frequent	140
HP:0001881	HP:0200151	Cutaneous mastocytosis	5	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis	HP:0040281 - Very frequent	327
HP:0001881	HP:0200151	Cutaneous mastocytosis	5	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous	.	327
HP:0001881	HP:0200151	Cutaneous mastocytosis	5	KIT CL E G H	3815	6342	ORPHA:280794	Pseudoxanthomatous diffuse cutaneous mastocytosis	HP:0040281 - Very frequent	327
HP:0001881	HP:0001880	Eosinophilia	5	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0001881	HP:0011897	Neutrophilia	5	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0001881	HP:0031807	Increased basophil count	5	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001881	HP:0001875	Neutropenia	5	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0001881	HP:0001875	Neutropenia	5	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein	.	1
HP:0001881	HP:0001875	Neutropenia	5	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency	HP:0040281 - Very frequent	1
HP:0001881	HP:0500269	Abnormal proportion of gamma-delta T cells	5	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0001881	HP:0001875	Neutropenia	5	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001881	HP:0011447	Hyposegmentation of neutrophil nuclei	5	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly	.	70
HP:0001881	HP:0011447	Hyposegmentation of neutrophil nuclei	5	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22	.	1
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0001881	HP:0005400	Reduction of neutrophil motility	5	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0001881	HP:0031392	Abnormal 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:0001881	HP:0500269	Abnormal proportion of gamma-delta T cells	5	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0001881	HP:0001880	Eosinophilia	5	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	88
HP:0001881	HP:0001875	Neutropenia	5	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040283 - Occasional	46
HP:0001881	HP:0001875	Neutropenia	5	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0001881	HP:0410252	Chronic neutropenia	5	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0001875	Neutropenia	5	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0001875	Neutropenia	5	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0001881	HP:0001875	Neutropenia	5	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0001881	HP:0001875	Neutropenia	5	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001881	HP:0011993	Impaired neutrophil bactericidal activity	5	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001881	HP:0032499	Giant neutrophil granules	5	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001881	HP:0001875	Neutropenia	5	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V	.	1
HP:0001881	HP:0005407	Decreased 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:0001881	HP:0031392	Abnormal 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:0001881	HP:0031394	Abnormal 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:0001881	HP:0001875	Neutropenia	5	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0001881	HP:0001875	Neutropenia	5	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0001881	HP:0011897	Neutrophilia	5	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0001881	HP:0011897	Neutrophilia	5	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040282 - Frequent	281
HP:0001881	HP:0001875	Neutropenia	5	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0001881	HP:0001875	Neutropenia	5	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0001881	HP:0001875	Neutropenia	5	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0001881	HP:0001875	Neutropenia	5	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0001881	HP:0001875	Neutropenia	5	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001881	HP:0001875	Neutropenia	5	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040283 - Occasional
HP:0001881	HP:0001875	Neutropenia	5	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040283 - Occasional
HP:0001881	HP:0001875	Neutropenia	5	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0001881	HP:0001875	Neutropenia	5	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50	.	2
HP:0001881	HP:0001875	Neutropenia	5	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional	88
HP:0001881	HP:0011897	Neutrophilia	5	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional	11
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0001881	HP:0008264	Neutrophil inclusion bodies	5	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	.	297
HP:0001881	HP:0008264	Neutrophil inclusion bodies	5	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040282 - Frequent	297
HP:0001881	HP:0001875	Neutropenia	5	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0001881	HP:0001875	Neutropenia	5	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0001881	HP:0011447	Hyposegmentation of neutrophil nuclei	5	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0001881	HP:0011993	Impaired neutrophil bactericidal activity	5	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I		13
HP:0001881	HP:0011993	Impaired neutrophil bactericidal activity	5	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II		67
HP:0001881	HP:0032182	Abnormal proportion of memory T cells	5	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001881	HP:0001875	Neutropenia	5	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0001881	HP:0005365	Severe B lymphocytopenia	5	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0001881	HP:0001880	Eosinophilia	5	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001881	HP:0032061	Hypereosinophilia	5	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001881	HP:0001880	Eosinophilia	5	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001881	HP:0001875	Neutropenia	5	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0001881	HP:0031891	Decreased eosinophil count	5	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001881	HP:0001875	Neutropenia	5	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0001881	HP:0005407	Decreased 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:0001881	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:0001881	HP:0031392	Abnormal 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:0001881	HP:0031393	Abnormal 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:0001881	HP:0001875	Neutropenia	5	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0001881	HP:0011897	Neutrophilia	5	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0001875	Neutropenia	5	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	HP:0040284 - Very rare
HP:0001881	HP:0001875	Neutropenia	5	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0001881	HP:0001875	Neutropenia	5	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92
HP:0001881	HP:0001880	Eosinophilia	5	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0001881	HP:0001880	Eosinophilia	5	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia	.	28
HP:0001881	HP:0001875	Neutropenia	5	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0001880	Eosinophilia	5	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001881	HP:0001875	Neutropenia	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0001881	HP:0001880	Eosinophilia	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040281 - Very frequent	15
HP:0001881	HP:0045080	Decreased proportion of CD3-positive T cells	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001881	HP:0030379	Abnormal proportion of transitional B cells	5	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001881	HP:0011897	Neutrophilia	5	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001881	HP:0001875	Neutropenia	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0001880	Eosinophilia	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	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:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0032182	Abnormal proportion of memory T cells	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0001875	Neutropenia	5	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive	.	43
HP:0001881	HP:0001875	Neutropenia	5	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	43
HP:0001881	HP:0030379	Abnormal proportion of transitional B cells	5	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0031396	Abnormal proportion of naive T cells	5	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0030373	Abnormal 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:0001881	HP:0001875	Neutropenia	5	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	3
HP:0001881	HP:0005400	Reduction of neutrophil motility	5	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0001881	HP:0001875	Neutropenia	5	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0001881	HP:0045080	Decreased proportion of CD3-positive T cells	5	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040283 - Occasional	52
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001881	HP:0410252	Chronic neutropenia	5	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001881	HP:0001875	Neutropenia	5	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001881	HP:0001875	Neutropenia	5	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0001881	HP:0001875	Neutropenia	5	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0001881	HP:0001875	Neutropenia	5	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	58
HP:0001881	HP:0005365	Severe B lymphocytopenia	5	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001881	HP:0001875	Neutropenia	5	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	134
HP:0001881	HP:0001875	Neutropenia	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0001880	Eosinophilia	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0001881	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0033207	Increased proportion autoreactive unresponsive CD21-/low B cells	5	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001881	HP:0001875	Neutropenia	5	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040282 - Frequent	67
HP:0001881	HP:0001875	Neutropenia	5	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0005400	Reduction of neutrophil motility	5	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0005400	Reduction of neutrophil motility	5	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0011897	Neutrophilia	5	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0011993	Impaired neutrophil bactericidal activity	5	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0001875	Neutropenia	5	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040282 - Frequent	127
HP:0001881	HP:0001880	Eosinophilia	5	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0001881	HP:0001880	Eosinophilia	5	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	127
HP:0001881	HP:0005365	Severe B lymphocytopenia	5	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0001881	HP:0001880	Eosinophilia	5	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	127
HP:0001881	HP:0045080	Decreased proportion of CD3-positive T cells	5	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0001881	HP:0001880	Eosinophilia	5	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	50
HP:0001881	HP:0001880	Eosinophilia	5	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0001881	HP:0005365	Severe B lymphocytopenia	5	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0001881	HP:0001880	Eosinophilia	5	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	50
HP:0001881	HP:0045080	Decreased proportion of CD3-positive T cells	5	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0001881	HP:0001875	Neutropenia	5	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	2
HP:0001881	HP:0001875	Neutropenia	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0001880	Eosinophilia	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0001881	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0033207	Increased proportion autoreactive unresponsive CD21-/low B cells	5	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001881	HP:0001880	Eosinophilia	5	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001881	HP:0001875	Neutropenia	5	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001881	HP:0001875	Neutropenia	5	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0001881	HP:0001875	Neutropenia	5	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0001881	HP:0005407	Decreased 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	HP:0040282 - Frequent	38
HP:0001881	HP:0031392	Abnormal 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:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0001881	HP:0001875	Neutropenia	5	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0001881	HP:0001875	Neutropenia	5	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0001881	HP:0005407	Decreased 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	HP:0040282 - Frequent	26
HP:0001881	HP:0031392	Abnormal 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:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0001881	HP:0001875	Neutropenia	5	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0001881	HP:0001875	Neutropenia	5	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0001881	HP:0005407	Decreased 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	HP:0040282 - Frequent	34
HP:0001881	HP:0031392	Abnormal 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:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0001881	HP:0001875	Neutropenia	5	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent	37
HP:0001881	HP:0001875	Neutropenia	5	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0001881	HP:0001880	Eosinophilia	5	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	37
HP:0001881	HP:0001875	Neutropenia	5	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001881	HP:0001880	Eosinophilia	5	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0001881	HP:0001880	Eosinophilia	5	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0001881	HP:0001875	Neutropenia	5	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0001881	HP:0001875	Neutropenia	5	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0001881	HP:0001875	Neutropenia	5	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0001881	HP:0001875	Neutropenia	5	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001881	HP:0001875	Neutropenia	5	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0001881	HP:0001875	Neutropenia	5	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0001881	HP:0001875	Neutropenia	5	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0001881	HP:0001875	Neutropenia	5	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001881	HP:0001875	Neutropenia	5	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001881	HP:0001875	Neutropenia	5	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001881	HP:0001875	Neutropenia	5	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0001881	HP:0001875	Neutropenia	5	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0001881	HP:0001875	Neutropenia	5	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0001881	HP:0001875	Neutropenia	5	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001881	HP:0001875	Neutropenia	5	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0001881	HP:0001875	Neutropenia	5	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4	.	5
HP:0001881	HP:0001875	Neutropenia	5	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0001881	HP:0001875	Neutropenia	5	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0001881	HP:0001875	Neutropenia	5	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001881	HP:0001875	Neutropenia	5	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0001881	HP:0001875	Neutropenia	5	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0001881	HP:0001875	Neutropenia	5	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001881	HP:0001875	Neutropenia	5	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001881	HP:0001875	Neutropenia	5	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0001881	HP:0001875	Neutropenia	5	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0001881	HP:0001875	Neutropenia	5	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8	.	20
HP:0001881	HP:0001875	Neutropenia	5	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	181
HP:0001881	HP:0001875	Neutropenia	5	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0001881	HP:0001875	Neutropenia	5	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001881	HP:0001875	Neutropenia	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0031396	Abnormal proportion of naive T cells	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0032182	Abnormal proportion of memory T cells	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0001875	Neutropenia	5	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	26
HP:0001881	HP:0410255	Transient neutropenia	5	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0001881	HP:0410252	Chronic neutropenia	5	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0001881	HP:0001875	Neutropenia	5	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	26
HP:0001881	HP:0005400	Reduction of neutrophil motility	5	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0001881	HP:0001875	Neutropenia	5	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0001881	HP:0001875	Neutropenia	5	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.	2
HP:0001881	HP:0001875	Neutropenia	5	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0001881	HP:0011447	Hyposegmentation of neutrophil nuclei	5	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional	19
HP:0001881	HP:0001875	Neutropenia	5	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001881	HP:0004821	Hypersegmentation of neutrophil nuclei	5	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0001881	HP:0001880	Eosinophilia	5	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome	HP:0040281 - Very frequent	26
HP:0001881	HP:0001875	Neutropenia	5	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0001881	HP:0001875	Neutropenia	5	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG	HP:0040281 - Very frequent	24
HP:0001881	HP:0005400	Reduction of neutrophil motility	5	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc	.	71
HP:0001881	HP:0011897	Neutrophilia	5	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc	.	71
HP:0001881	HP:0011897	Neutrophilia	5	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040281 - Very frequent	71
HP:0001881	HP:0410252	Chronic neutropenia	5	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:0001881	HP:0001875	Neutropenia	5	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0001881	HP:0001875	Neutropenia	5	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0001881	HP:0001875	Neutropenia	5	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0001881	HP:0040289	Cyclic neutropenia	5	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0001881	HP:0030252	Absent circulating B cells	5	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001881	HP:0001875	Neutropenia	5	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.	101
HP:0001881	HP:0001880	Eosinophilia	5	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040283 - Occasional	101
HP:0001881	HP:0001875	Neutropenia	5	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0001881	HP:0001875	Neutropenia	5	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0001881	HP:0031396	Abnormal proportion of naive T cells	5	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0001881	HP:0001875	Neutropenia	5	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0001881	HP:0012551	Absent neutrophil specific granules	5	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0001881	HP:0030373	Abnormal 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:0001881	HP:0030373	Abnormal proportion of memory B cells	5	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0001881	HP:0410255	Transient neutropenia	5	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0001875	Neutropenia	5	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0030252	Absent circulating B cells	5	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0001880	Eosinophilia	5	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001881	HP:0032061	Hypereosinophilia	5	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0001881	HP:0001880	Eosinophilia	5	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0001881	HP:0001875	Neutropenia	5	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040280 - Obligate
HP:0001881	HP:0001880	Eosinophilia	5	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0001881	HP:0001875	Neutropenia	5	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0001881	HP:0410255	Transient neutropenia	5	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0001881	HP:0410252	Chronic neutropenia	5	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0001881	HP:0001875	Neutropenia	5	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent
HP:0001881	HP:0005400	Reduction of neutrophil motility	5	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001881	HP:0001875	Neutropenia	5	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0001881	HP:0001875	Neutropenia	5	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	1
HP:0001881	HP:0001880	Eosinophilia	5	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0001881	HP:0011897	Neutrophilia	5	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0001881	HP:0031807	Increased basophil count	5	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0001881	HP:0001875	Neutropenia	5	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional	89
HP:0001881	HP:0001875	Neutropenia	5	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	110
HP:0001881	HP:0001875	Neutropenia	5	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0001881	HP:0001880	Eosinophilia	5	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent	110
HP:0001881	HP:0001880	Eosinophilia	5	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0001881	HP:0001875	Neutropenia	5	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0001881	HP:0001875	Neutropenia	5	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS	.	4
HP:0001881	HP:0001875	Neutropenia	5	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0001881	HP:0001875	Neutropenia	5	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001881	HP:0001875	Neutropenia	5	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0001881	HP:0031396	Abnormal proportion of naive T cells	5	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001881	HP:0001875	Neutropenia	5	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	HP:0040283 - Occasional
HP:0001881	HP:0040289	Cyclic neutropenia	5	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001881	HP:0001875	Neutropenia	5	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001881	HP:0011897	Neutrophilia	5	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	20
HP:0001881	HP:0001875	Neutropenia	5	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	22
HP:0001881	HP:0001880	Eosinophilia	5	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0032182	Abnormal proportion of memory T cells	5	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0001875	Neutropenia	5	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	2
HP:0001881	HP:0001875	Neutropenia	5	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040280 - Obligate	82
HP:0001881	HP:0001880	Eosinophilia	5	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0001881	HP:0001875	Neutropenia	5	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040282 - Frequent	57
HP:0001881	HP:0001875	Neutropenia	5	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.	57
HP:0001881	HP:0001875	Neutropenia	5	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23	.	3
HP:0001881	HP:0001875	Neutropenia	5	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	48
HP:0001881	HP:0001875	Neutropenia	5	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0001881	HP:0001875	Neutropenia	5	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	238
HP:0001881	HP:0001875	Neutropenia	5	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0001881	HP:0011447	Hyposegmentation of neutrophil nuclei	5	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional	3
HP:0001881	HP:0001875	Neutropenia	5	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	3
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0001881	HP:0001875	Neutropenia	5	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia	HP:0040284 - Very rare	3
HP:0001881	HP:0001880	Eosinophilia	5	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0001881	HP:0011897	Neutrophilia	5	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0001881	HP:0031807	Increased basophil count	5	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0001881	HP:0001875	Neutropenia	5	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.	67
HP:0001881	HP:0001875	Neutropenia	5	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0001881	HP:0011897	Neutrophilia	5	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	6
HP:0001881	HP:0011897	Neutrophilia	5	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	3
HP:0001881	HP:0001875	Neutropenia	5	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0012234	Agranulocytosis	5	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001881	HP:0011447	Hyposegmentation of neutrophil nuclei	5	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001881	HP:0001875	Neutropenia	5	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0030373	Abnormal proportion of memory B cells	5	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0001875	Neutropenia	5	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0001881	HP:0001875	Neutropenia	5	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	HP:0040284 - Very rare
HP:0001881	HP:0031891	Decreased eosinophil count	5	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001881	HP:0001875	Neutropenia	5	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	5	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001881	HP:0001880	Eosinophilia	5	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0001881	HP:0032061	Hypereosinophilia	5	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY	.	1
HP:0001881	HP:0011897	Neutrophilia	5	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	2
HP:0001881	HP:0001875	Neutropenia	5	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001881	HP:0001875	Neutropenia	5	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0001875	Neutropenia	5	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0001881	HP:0011897	Neutrophilia	5	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	5
HP:0001881	HP:0001875	Neutropenia	5	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0001881	HP:0031891	Decreased eosinophil count	5	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001881	HP:0031891	Decreased eosinophil count	5	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001881	HP:0001875	Neutropenia	5	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546
HP:0001881	HP:0001875	Neutropenia	5	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0001881	HP:0001875	Neutropenia	5	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001881	HP:0001875	Neutropenia	5	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive	.	7
HP:0001881	HP:0001875	Neutropenia	5	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked	.	65
HP:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0001875	Neutropenia	5	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0001881	HP:0001880	Eosinophilia	5	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	5	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0005415	Decreased proportion of CD8-positive T cells	5	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0031392	Abnormal proportion of CD4-positive T cells	5	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0001875	Neutropenia	5	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia	HP:0040281 - Very frequent	65
HP:0001881	HP:0001875	Neutropenia	5	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome	.
HP:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001881	HP:0001875	Neutropenia	5	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0001881	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:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0001881	HP:0001875	Neutropenia	5	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001881	HP:0031394	Abnormal CD4:CD8 ratio	5	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0001881	HP:0001880	Eosinophilia	5	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0001881	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:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0001881	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:0001881	HP:0031393	Abnormal proportion of CD8-positive T cells	5	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0001881	HP:0001875	Neutropenia	5	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	1
HP:0001881	HP:0001880	Eosinophilia	5	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	HP:0040284 - Very rare	1
HP:0001881	HP:0011897	Neutrophilia	5	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001881	HP:0005512	Impaired neutrophil killing of staphylococci	6	CL E G H
HP:0001881	HP:0012235	Drug-induced agranulocytosis	6	CL E G H
HP:0001881	HP:0020112	Increased proportion of CD4+CD25+ regulatory T cells	6	CL E G H
HP:0001881	HP:0025623	Abnormal proportion of CD4+ effector memory cells	6	CL E G H
HP:0001881	HP:0030336	Absence of CD4-positive, CD25-positive regulatory T cells	6	CL E G H
HP:0001881	HP:0030337	Elevated CD4-positive, CD25-positive regulatory T cell count	6	CL E G H
HP:0001881	HP:0030371	Increased proportion of naive B cells	6	CL E G H
HP:0001881	HP:0030372	Decreased proportion of naive B cells	6	CL E G H
HP:0001881	HP:0030375	Increased proportion of memory B cells	6	CL E G H
HP:0001881	HP:0030377	Increased proportion of immature B cells	6	CL E G H
HP:0001881	HP:0030378	Decreased proportion of immature B cells	6	CL E G H
HP:0001881	HP:0030380	Decreased proportion of transitional B cells	6	CL E G H
HP:0001881	HP:0031398	Increased proportion of naive T cells	6	CL E G H
HP:0001881	HP:0031514	Increased proportion of exhausted T cells	6	CL E G H
HP:0001881	HP:0032124	Abnormal proportion of unswitched memory B cells	6	CL E G H
HP:0001881	HP:0032128	Increased proportion of plasmablasts	6	CL E G H
HP:0001881	HP:0032129	Decreased proportion of plasmablasts	6	CL E G H
HP:0001881	HP:0032151	Episodic eosinophilia	6	CL E G H
HP:0001881	HP:0032237	Increased circulating myelocyte count	6	CL E G H
HP:0001881	HP:0032238	Increased circulating metamyelocyte count	6	CL E G H
HP:0001881	HP:0032239	Increased circulating band cell count	6	CL E G H
HP:0001881	HP:0410254	Cyclic neutropenia in myeloid maturation arrest in bone marrow	6	CL E G H
HP:0001881	HP:0410257	Neutrophilia in presence of infection	6	CL E G H
HP:0001881	HP:0410258	Neutrophilia in absence of infection	6	CL E G H
HP:0001881	HP:0410374	Abnormal proportion of naive CD8 T cells	6	CL E G H
HP:0001881	HP:0410379	Abnormal proportion of CD4-positive, alpha-beta memory T cells	6	CL E G H
HP:0001881	HP:0500264	Increased helper T cell proportion	6	CL E G H
HP:0001881	HP:0500271	Decreased proportion of gamma-delta T cells	6	CL E G H
HP:0001881	HP:0500273	Increased proportion of immature gamma-delta T cells	6	CL E G H
HP:0001881	HP:0500274	Decreased proportion of immature gamma-delta T cells	6	CL E G H
HP:0001881	HP:0005541	Congenital agranulocytosis	6	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0001881	HP:0033222	Decreased CD4:CD8 ratio	6	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0001881	HP:0030381	Increased proportion of transitional B cells	6	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001881	HP:0032183	Decreased proportion of memory T cells	6	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0001881	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	6	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0001881	HP:0032061	Hypereosinophilia	6	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0001881	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	6	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0001881	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	6	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0001881	HP:0033222	Decreased CD4:CD8 ratio	6	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0001881	HP:0030386	Abnormal proportion of class-switched memory B cells	6	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0001881	HP:0005415	Decreased proportion of CD8-positive T cells	6	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	.	19
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0001881	HP:0005415	Decreased proportion of CD8-positive T cells	6	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0001881	HP:0005422	Absence of CD8-positive T cells	6	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial	.	4
HP:0001881	HP:0410252	Chronic neutropenia	6	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001881	HP:0040238	Impaired neutrophil chemotaxis	6	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0001881	HP:0041042	Absent neutrophil lactoferrin	6	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency	.	3
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0001881	HP:0500267	Abnormal 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		118
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001881	HP:0410255	Transient neutropenia	6	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0001881	HP:0410256	Infection associated neutropenia	6	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent	38
HP:0001881	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	6	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001881	HP:0030386	Abnormal proportion of class-switched memory B cells	6	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001881	HP:0033222	Decreased CD4:CD8 ratio	6	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0001881	HP:0410252	Chronic neutropenia	6	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0001881	HP:0003203	Impaired oxidative burst	6	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.	27
HP:0001881	HP:0003203	Impaired oxidative burst	6	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0001881	HP:0003203	Impaired oxidative burst	6	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001881	HP:0033222	Decreased CD4:CD8 ratio	6	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001881	HP:0410255	Transient neutropenia	6	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0001881	HP:0410252	Chronic neutropenia	6	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0001881	HP:0040238	Impaired neutrophil chemotaxis	6	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0001881	HP:0500267	Abnormal 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:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0410255	Transient neutropenia	6	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0001881	HP:0410252	Chronic neutropenia	6	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0001881	HP:0040238	Impaired neutrophil chemotaxis	6	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0001881	HP:0040289	Cyclic neutropenia	6	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia	.	79
HP:0001881	HP:0040289	Cyclic neutropenia	6	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040281 - Very frequent	79
HP:0001881	HP:0005541	Congenital agranulocytosis	6	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001881	HP:0005415	Decreased proportion of CD8-positive 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:0001881	HP:0500267	Abnormal 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		3
HP:0001881	HP:0032061	Hypereosinophilia	6	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0001881	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	6	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0001881	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	6	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0001881	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	6	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0001881	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	6	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia	HP:0040281 - Very frequent	5
HP:0001881	HP:0410255	Transient neutropenia	6	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0001881	HP:0410252	Chronic neutropenia	6	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0030386	Abnormal 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:0001881	HP:0008165	Decreased helper T cell proportion	6	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.	54
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0001881	HP:0031401	Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	6	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040282 - Frequent	32
HP:0001881	HP:0033222	Decreased CD4:CD8 ratio	6	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001881	HP:0030386	Abnormal proportion of class-switched memory B cells	6	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	HP:0040283 - Occasional	32
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0030386	Abnormal proportion of class-switched memory B cells	6	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0005415	Decreased proportion of CD8-positive T cells	6	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0001881	HP:0030386	Abnormal proportion of class-switched memory B cells	6	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0001881	HP:0033222	Decreased CD4:CD8 ratio	6	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001881	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	6	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001881	HP:0033222	Decreased CD4:CD8 ratio	6	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001881	HP:0005415	Decreased proportion of CD8-positive T cells	6	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0001881	HP:0500267	Abnormal 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		48
HP:0001881	HP:0031397	Decreased proportion of naive 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:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0001881	HP:0030386	Abnormal 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:0001881	HP:0005415	Decreased proportion of CD8-positive 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:0001881	HP:0500267	Abnormal 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		94
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0001881	HP:0032061	Hypereosinophilia	6	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001881	HP:0410255	Transient neutropenia	6	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0001881	HP:0030386	Abnormal proportion of class-switched memory B cells	6	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0001881	HP:0003203	Impaired oxidative burst	6	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional	3
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001881	HP:0500270	Increased proportion of gamma-delta T cells	6	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0001881	HP:0040238	Impaired neutrophil chemotaxis	6	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0030386	Abnormal proportion of class-switched memory B cells	6	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0001881	HP:0500270	Increased proportion of gamma-delta T cells	6	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0001881	HP:0410252	Chronic neutropenia	6	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0030386	Abnormal 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:0001881	HP:0033222	Decreased CD4:CD8 ratio	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:0001881	HP:0500267	Abnormal 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:0001881	HP:0032218	Decreased proportion of CD4-positive 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:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0001881	HP:0040235	Leukocyte inclusion bodies	6	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	.	297
HP:0001881	HP:0003203	Impaired oxidative burst	6	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.	13
HP:0001881	HP:0003203	Impaired oxidative burst	6	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.	67
HP:0001881	HP:0032184	Increased proportion of memory T cells	6	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001881	HP:0032061	Hypereosinophilia	6	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001881	HP:0005415	Decreased proportion of CD8-positive T cells	6	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0001881	HP:0500267	Abnormal 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:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0001881	HP:0032219	Increased proportion of CD4-positive T cells	6	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001881	HP:0030381	Increased proportion of transitional B cells	6	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001881	HP:0030386	Abnormal proportion of class-switched memory B cells	6	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001881	HP:0410380	Abnormal 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:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	6	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	6	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0005415	Decreased proportion of CD8-positive T cells	6	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0032183	Decreased proportion of memory T cells	6	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0410373	Abnormal proportion of naive CD4 T cells	6	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0030381	Increased proportion of transitional B cells	6	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0031397	Decreased proportion of naive T cells	6	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0001881	HP:0030386	Abnormal 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:0001881	HP:0040238	Impaired neutrophil chemotaxis	6	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0001881	HP:0033221	Increased CD4:CD8 ratio	6	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0001881	HP:0410252	Chronic neutropenia	6	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0001881	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	6	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001881	HP:0030386	Abnormal 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:0001881	HP:0040238	Impaired neutrophil chemotaxis	6	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001881	HP:0003203	Impaired oxidative burst	6	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0040238	Impaired neutrophil chemotaxis	6	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040282 - Frequent	127
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0001881	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	6	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001881	HP:0030386	Abnormal proportion of class-switched memory B cells	6	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0001881	HP:0500267	Abnormal 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		38
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0001881	HP:0500267	Abnormal 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		26
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0001881	HP:0500267	Abnormal 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		34
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0001881	HP:0410373	Abnormal proportion of naive CD4 T cells	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0410380	Abnormal proportion of CD8-positive, alpha-beta memory T cells	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0031397	Decreased proportion of naive T cells	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0032184	Increased proportion of memory T cells	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0410255	Transient neutropenia	6	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0001881	HP:0410252	Chronic neutropenia	6	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0001881	HP:0040238	Impaired neutrophil chemotaxis	6	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0001881	HP:0410252	Chronic neutropenia	6	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:0001881	HP:0040289	Cyclic neutropenia	6	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0001881	HP:0410373	Abnormal proportion of naive CD4 T cells	6	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0001881	HP:0031397	Decreased proportion of naive T cells	6	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0001881	HP:0030383	Abnormal 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:0001881	HP:0030386	Abnormal 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:0001881	HP:0030374	Decreased proportion of memory B cells	6	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent	49
HP:0001881	HP:0410255	Transient neutropenia	6	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0001881	HP:0032061	Hypereosinophilia	6	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0001881	HP:0410255	Transient neutropenia	6	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0001881	HP:0410252	Chronic neutropenia	6	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0001881	HP:0040238	Impaired neutrophil chemotaxis	6	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional	89
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0001881	HP:0031397	Decreased proportion of naive T cells	6	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0001881	HP:0040289	Cyclic neutropenia	6	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001881	HP:0410380	Abnormal 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:0001881	HP:0032183	Decreased proportion of memory T cells	6	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0032184	Increased proportion of memory T cells	6	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0001881	HP:0030386	Abnormal proportion of class-switched memory B cells	6	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0030374	Decreased proportion of memory B cells	6	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	6	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001881	HP:0032061	Hypereosinophilia	6	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY	.	1
HP:0001881	HP:0033222	Decreased CD4:CD8 ratio	6	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0033222	Decreased CD4:CD8 ratio	6	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0001881	HP:0005415	Decreased proportion of CD8-positive T cells	6	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0500267	Abnormal proportion of CD4-positive helper T cells	6	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0032218	Decreased proportion of CD4-positive T cells	6	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0005415	Decreased proportion of CD8-positive T cells	6	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0001881	HP:0033221	Increased CD4:CD8 ratio	6	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0001881	HP:0005415	Decreased proportion 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:0001881	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:0001881	HP:0005415	Decreased proportion of CD8-positive T cells	6	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0001881	HP:0005422	Absence of CD8-positive T cells	6	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0001881	HP:0025620	Abnormal proportion of CD4+ central memory cells	7	CL E G H
HP:0001881	HP:0025624	Reduced proportion of CD4+ effector memory T cells	7	CL E G H
HP:0001881	HP:0025625	Elevated proportion of CD4+ effector memory T cells	7	CL E G H
HP:0001881	HP:0030385	Increased proportion of marginal zone B cells	7	CL E G H
HP:0001881	HP:0030387	Increased proportion of class-switched memory B cells	7	CL E G H
HP:0001881	HP:0032125	Increased proportion of unswitched memory B cells	7	CL E G H
HP:0001881	HP:0032126	Decreased proportion of unswitched memory B cells	7	CL E G H
HP:0001881	HP:0410254	Cyclic neutropenia in myeloid maturation arrest in bone marrow	7	CL E G H
HP:0001881	HP:0410375	Increased proportion of naive CD4 T cells	7	CL E G H
HP:0001881	HP:0410376	Increased proportion of naive CD8 T cells	7	CL E G H
HP:0001881	HP:0410381	Abnormal proportion of central memory CD4-positive, alpha-beta T cells	7	CL E G H
HP:0001881	HP:0410383	Abnormal proportion of effector memory CD8-positive, alpha-beta T cells	7	CL E G H
HP:0001881	HP:0410384	Abnormal proportion of central memory CD8-positive, alpha-beta T cells	7	CL E G H
HP:0001881	HP:0410391	Increased proportion of CD4-positive, alpha-beta memory T cells	7	CL E G H
HP:0001881	HP:0500273	Increased proportion of immature gamma-delta T cells	7	CL E G H
HP:0001881	HP:0500274	Decreased proportion of immature gamma-delta T cells	7	CL E G H
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0001881	HP:0410386	Decreased proportion of CD4-positive, alpha-beta memory T cells	7	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0001881	HP:0030388	Decreased proportion of class-switched memory B cells	7	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0001881	HP:0005422	Absence of CD8-positive T cells	7	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial	.	4
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0001881	HP:0410256	Infection associated neutropenia	7	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent	38
HP:0001881	HP:0030388	Decreased proportion of class-switched memory B cells	7	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0001881	HP:0030388	Decreased proportion of class-switched memory B cells	7	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001881	HP:0030388	Decreased proportion of class-switched memory B cells	7	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001881	HP:0030388	Decreased proportion of class-switched memory B cells	7	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001881	HP:0030388	Decreased proportion of class-switched memory B cells	7	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	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:0001881	HP:0030388	Decreased proportion of class-switched memory B cells	7	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0001881	HP:0030388	Decreased proportion of class-switched memory B cells	7	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22	.	1
HP:0001881	HP:0030388	Decreased proportion of class-switched memory B cells	7	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0001881	HP:0030388	Decreased proportion of class-switched memory B cells	7	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional	11
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040281 - Very frequent	15
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0001881	HP:0030388	Decreased proportion of class-switched memory B cells	7	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0001881	HP:0410385	Decreased proportion of CD8-positive, alpha-beta memory T cells	7	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0020177	Abnormal 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:0001881	HP:0410378	Decreased proportion of naive CD4 T cells	7	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0410377	Decreased proportion of naive CD8 T cells	7	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001881	HP:0030388	Decreased proportion of class-switched memory B cells	7	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0001881	HP:0030388	Decreased proportion of class-switched memory B cells	7	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0001881	HP:0030388	Decreased proportion of class-switched memory B cells	7	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0001881	HP:0410378	Decreased proportion of naive CD4 T cells	7	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0410377	Decreased proportion of naive CD8 T cells	7	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0410392	Increased proportion of CD8-positive, alpha-beta memory T cells	7	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0020177	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	7	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0410377	Decreased proportion of naive CD8 T cells	7	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0001881	HP:0030384	Decreased proportion of marginal zone B cells	7	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0001881	HP:0030388	Decreased proportion of class-switched memory B cells	7	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0001881	HP:0410385	Decreased proportion of CD8-positive, alpha-beta memory T cells	7	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0410392	Increased proportion of CD8-positive, alpha-beta memory T cells	7	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0020177	Abnormal 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:0001881	HP:0030388	Decreased proportion of class-switched memory B cells	7	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0001881	HP:0005407	Decreased proportion of CD4-positive helper T cells	7	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001881	HP:0005422	Absence of CD8-positive T cells	7	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0001881	HP:0005422	Absence of CD8-positive T cells	7	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0001881	HP:0410389	Decreased proportion of central memory CD8-positive, alpha-beta T cells	8	CL E G H
HP:0001881	HP:0410390	Decreased proportion of effector memory CD8-positive, alpha-beta T cells	8	CL E G H
HP:0001881	HP:0410393	Increased proportion of central memory CD4-positive, alpha-beta T cells	8	CL E G H
HP:0001881	HP:0410394	Increased proportion of effector memory CD4-positive, alpha-beta T cells	8	CL E G H
HP:0001881	HP:0410396	Increased proportion of central memory CD8-positive, alpha-beta T cells	8	CL E G H
HP:0001881	HP:0410388	Decreased proportion of central memory CD4-positive, alpha-beta T cells	8	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0001881	HP:0500266	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells	8	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001881	HP:0500265	Increased proportion of CD8-positive, alpha-beta TEMRA T cells	8	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001881	HP:0410395	Increased proportion of effector memory CD8-positive, alpha-beta T cells	8	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001881	HP:0500266	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells	8	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2